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Find video protocols related to scientific articles indexed in Pubmed.
Detection of high levels of anti-?-galactosyl antibodies in sera of patients with Old World cutaneous leishmaniasis: a possible tool for diagnosis and biomarker for cure in an elimination setting.
Parasitology
PUBLISHED: 10-09-2014
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SUMMARY In the Kingdom of Saudi Arabia (KSA), Old World cutaneous leishmaniasis (CL) is mainly caused by Leishmania major and Leishmania tropica parasites. Diagnosis of CL is predominately made by clinicians, who at times fail to detect the disease and are unable to identify parasite species. Here, we report the development of a chemiluminescent enzyme-linked immunosorbent assay (CL-ELISA) to measure the levels of anti-?-galactosyl antibodies in human sera. Using this assay, we have found that individuals infected with either Leishmania spp. had significantly elevated levels (up to 9-fold higher) of anti-?-Gal IgG compared to healthy control individuals. The assay sensitivity was 96% for L. major (95% CI; 94-98%) and 91% for L. tropica (95% CI; 86-98%) infections and therefore equivalent to restriction fragment length polymorphism-polymerase chain reaction analysis of parasite ITS1 gene. In addition, the assay had higher sensitivity than microscopy analysis, which only detected 68 and 45% of the L. major and L. tropica infections, respectively. Interestingly, up to 2 years following confirmed CL cure individuals had 28-fold higher levels of anti-?-Gal IgG compared to healthy volunteers. Monitoring levels of anti-?-Gal antibodies can be exploited as both a diagnostic tool and as a biomarker of cure of Old World CL in disease elimination settings.
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Leishmaniasis in the middle East: incidence and epidemiology.
PLoS Negl Trop Dis
PUBLISHED: 10-01-2014
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Leishmaniasis is a major health problem worldwide, with several countries reporting cases of leishmaniasis resulting in loss of human life or a lifelong stigma because of bodily scars. The Middle East is endemic for cutaneous leishmaniasis, with countries like Syria reporting very high incidence of the disease. Despite several countries establishing national control programs for containing the sandfly vector and treatment of infection, the disease continues to spread. In addition to the endemicity of the region for leishmaniasis, the Middle East has seen a great deal of human migration either for earning of livelihood or due to political upheaval in the region. These factors contribute to the spread and proliferation of the causative species Leishmania and its sandfly host. This review discusses the current epidemiological scenario in Iraq, Syria, Saudi Arabia, and Jordan, emphasizing the number of cases reported, vector species, Leishmania species, and treatment available. The data is primarily from WHO reports for each country and current and old literature.
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External laryngeal manipulation done by the laryngoscopist makes the best laryngeal view for intubation.
Saudi J Anaesth
PUBLISHED: 09-06-2014
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External laryngeal manipulation (ELM) is used to get better laryngeal view during direct laryngoscopy. This study was designed to test the hypothesis that ELM done by the intubating anesthetist (laryngoscopist) offers the best laryngeal view for tracheal intubation.
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Serum procalcitonin in cirrhotic patients with septic shock: relationship with adrenal insufficiency and clinical outcomes.
Clin. Lab.
PUBLISHED: 08-20-2014
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Serum procalcitonin is commonly used to differentiate systemic inflammation due to infection from non-infectious causes. Limited data exist on the value of procalcitonin in predicting relative adrenal insufficiency (RAI). This study evaluated the value of procalcitonin in predicting RAI and mortality in cirrhotic patients with septic shock.
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Consanguinity and primary immunodeficiencies.
Hum. Hered.
PUBLISHED: 07-29-2014
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Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous marriage. Reports about PIDs from these areas have demonstrated a peculiar prevalence of more severe forms of diseases compared to other regions, and patients born to consanguineous parents have increased rates of morbidity and mortality compared to other patients. Individuals at high risk of having a child with a PID who wish to have a healthy child have limited options, these include prenatal diagnosis and pre-implantation genetic diagnosis. However, these options require a collaborative team of specialists and may not always be implemented due to geographic, religious, financial or social factors. The recent introduction of newborn-screening programs for a number of T and B lymphocyte deficiencies will facilitate early diagnosis and therapeutic interventions, which may include hematopoietic stem cell transplantation and intravenous immunoglobulin treatment. There is a need for the implementation of strategies to increase public awareness of the health risks associated with consanguineous marriage. It should be stressed that genetic counseling should be an important component of the care of patients with PIDs as well as their families.
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Noninfectious cutaneous granulomas in primary immunodeficiency disorders: report from a national registry.
Am J Dermatopathol
PUBLISHED: 07-26-2014
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: The association of noninfectious cutaneous granulomas with primary immunodeficiency disorders (PIDs) is a rare but well-recognized phenomenon. With the recent advent of new classification and broadening of the list of PIDs, there is now ever-growing number of PIDs having being reported with noninfectious cutaneous granulomas or granulomatous tissue reactions. The authors observed 4 patients with cutaneous granulomas associated with PIDs that constitute 2% of total PIDs registered with them. In this report, the authors describe these 4 patients with cutaneous granulomas/granulomatous skin reactions associated one each with common variable immunodeficiency, Omenn syndrome, combined immunodeficiency, and Blau syndrome (BS), and briefly review the literature on various clinicopathological patterns of cutaneous granulomas with possible underlying pathogenetic mechanisms responsible for such tissue reactions in patients with PID.
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Exploring the immediate and long-term impact on bacterial communities in soil amended with animal and urban organic waste fertilizers using pyrosequencing and screening for horizontal transfer of antibiotic resistance.
FEMS Microbiol. Ecol.
PUBLISHED: 07-11-2014
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We investigated immediate and long-term effects on bacterial populations of soil amended with cattle manure, sewage sludge or municipal solid waste compost in an ongoing agricultural field trial. Soils were sampled in weeks 0, 3, 9 and 29 after fertilizer application. Pseudomonas isolates were enumerated, and the impact on soil bacterial community structure was investigated using 16S rRNA amplicon pyrosequencing. Bacterial community structure at phylum level remained mostly unaffected. Actinobacteria, Proteobacteria and Chloroflexi were the most prevalent phyla significantly responding to sampling time. Seasonal changes seemed to prevail with decreasing bacterial richness in week 9 followed by a significant increase in week 29 (springtime). The Pseudomonas population richness seemed temporarily affected by fertilizer treatments, especially in sludge- and compost-amended soils. To explain these changes, prevalence of antibiotic- and mercury-resistant pseudomonads was investigated. Fertilizer amendment had a transient impact on the resistance profile of the soil community; abundance of resistant isolates decreased with time after fertilizer application, but persistent strains appeared multiresistant, also in unfertilized soil. Finally, the ability of a P. putida strain to take up resistance genes from indigenous soil bacteria by horizontal gene transfer was present only in week 0, indicating a temporary increase in prevalence of transferable antibiotic resistance genes.
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Molecular characterization of a population-based series of endometrial stromal sarcomas in Kuwait.
Hum. Pathol.
PUBLISHED: 07-09-2014
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Endometrial stromal sarcomas (ESSs) frequently harbor genetic fusions, including JAZF1-SUZ12 and equivalent fusions in low-grade ESS (LGESS) and YWHAE-NUTM2 in high-grade ESS (HGESS). This study aims to classify a population-based series of ESSs in Kuwait based on the 2014 World Health Organization classification system and to assess the diagnostic use of interferon-induced transmembrane protein 1 (IFITM1) immunomarker for ESSs. Twenty ESSs including 19 LGESSs and 1 HGESS treated during the period between 2002 and 2013 were identified, and the cases were reviewed and characterized using fluorescence in situ hybridization and immunohistochemical studies. Thirteen (81.3%) of 16 LGESSs with interpretable results showed JAZF1 and/or PHF1 genetic rearrangements by fluorescence in situ hybridization, and the only HGESS in the series showed YWHAE genetic rearrangement. All LGESSs with interpretable results showed positive immunostaining for CD10 compared with 11 (61%) of 18 that showed positive immunostaining for IFITM1; 4 of 7 IFITM1-negative LGESSs showed JAZF1 and/or PHF1 rearrangements. A series of uterine leiomyomas, leiomyosarcomas, adenosarcomas, and carcinosarcomas were included for comparison, and positive IFITM1 staining was found in 1 of 10 leiomyomas, 3 of 13 leiomyosarcomas, 3 of 4 adenosarcomas, and 3 of 8 carcinosarcomas, compared to 0 of 10 leiomyomas, 9 of 13 leiomyosarcomas, 3 of 4 adenosarcomas, and 5 of 8 carcinosarcomas that were positive for CD10. Our results demonstrated characteristic genetic rearrangements in a high percentage of LGESSs in this Middle Eastern population, and IFITM1 antibody appears to be less sensitive than CD10 for LGESS.
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Echocardiography Detects Elevated Left Ventricular Filling Pressures in Heart Transplant Recipients.
Echocardiography
PUBLISHED: 07-05-2014
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Diastolic dysfunction is a recognized complication in heart transplant (HTx) recipients that limits exercise capacity and is a risk factor for mortality. We investigated the ability of echocardiography to detect elevated pulmonary capillary wedge pressure (mean PCWP>15 mmHg) in HTx recipients. This retrospective study comprised HTx recipients with echocardiography and right heart catheterization within 24 hours (n = 100, 113 investigations). Echocardiographic assessment was performed using mitral inflow (E/A ratio, deceleration time [DT], isovolumic relaxation time [IVRT]), tissue Doppler (E/E' lateral) parameters, and the Doppler-estimated pulmonary artery systolic pressure (Doppler PASP). The right atrial pressure (RAP) was estimated based on size and the effect of respiration or sniffing on the inferior vena cava diameter. Cutoff values were determined from a derivation group (n = 57, receiver operator characteristic curve analysis) and evaluated in a test group (n = 56). Elevated PCWP were found in 38%. The RAP and PCWP were both normal in 58 investigations and elevated in 39 investigations (concordance rate of 86.6%). The presence of signs of increased RAP by echocardiography or with three of five parameters (E/A, DT, IVRT, E/E' lateral, and Doppler PASP) reaching the cutoff values ruled in elevated PCWP with positive likelihood ratios ranging from 15.3 to 9. With normal RAP by echocardiography or none of the other parameters reaching cutoff values elevated PCWP can be ruled out with negative likelihood ratios ranging from 0.07 to 0.19. In conclusion, elevated PCWP in HTx recipients can be assessed using echocardiography.
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Adult depression screening in Saudi primary care: prevalence, instrument and cost.
BMC Psychiatry
PUBLISHED: 06-10-2014
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By the year 2020 depression would be the second major cause of disability adjusted life years lost, as reported by the World Health Organization. Depression is a mental illness which causes persistent low mood, a sense of despair, and has multiple risk factors. Its prevalence in primary care varies between 15.3-22%, with global prevalence up to 13% and between 17-46% in Saudi Arabia. Despite several studies that have shown benefit of early diagnosis and cost-savings of up to 80%, physicians in primary care setting continue to miss out on 30-50% of depressed patients in their practices.
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Gender-associated genomic differences in colorectal cancer: clinical insight from feminization of male cancer cells.
Int J Mol Sci
PUBLISHED: 05-27-2014
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Gender-related differences in colorectal cancer (CRC) are not fully understood. Recent studies have shown that CRC arising in females are significantly associated with CpG island methylator phenotype (CIMP-high). Using array comparative genomic hybridization, we analyzed a cohort of 116 CRCs (57 males, 59 females) for chromosomal copy number aberrations (CNA) and found that CRC in females had significantly higher numbers of gains involving chromosome arms 1q21.2-q21.3, 4q13.2, 6p21.1 and 16p11.2 and copy number losses of chromosome arm 11q25 compared to males. Interestingly, a subset of male CRCs (46%) exhibited a "feminization" phenomenon in the form of gains of X chromosomes (or an arm of X) and/or losses of the Y chromosome. Feminization of cancer cells was significantly associated with microsatellite-stable CRCs (p-value 0.003) and wild-type BRAF gene status (p-value 0.009). No significant association with other clinicopathological parameters was identified including disease-free survival. In summary, our data show that some CNAs in CRC may be gender specific and that male cancers characterized by feminization may constitute a specific subset of CRCs that warrants further investigation.
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Pharmacokinetic plasma behaviors of intravenous and oral bioavailability of thymoquinone in a rabbit model.
Eur J Drug Metab Pharmacokinet
PUBLISHED: 05-22-2014
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Thymoquinone (THQ), the active constituent of Nigella sativa seeds, has demonstrated some potential pharmacological activities. The present study was designed to investigate the pharmacokinetic behavior of THQ following intravenous (IV) and oral (PO) administration using an animal model. THQ was given vascularly (5 mg/kg IV) and extravascularly (20 mg/kg PO) to Vole rabbits, and blood samples were collected at predetermined time points. The concentrations of THQ in plasma were measured by a high-performance liquid chromatography, and the pharmacokinetic parameters were determined using both compartmental and non-compartmental analyses. The calculated clearance (CL) following IV administration was 7.19 ± 0.83 ml/kg/min, and the estimated volume of distribution at steady state (V ss) was 700.90 ± 55.01 ml/kg. Whereas with PO dosing, apparent CL/F value was 12.30 ± 0.30 ml/min/kg and V ss/F was 5,109.46 ± 196.08 ml/kg. These parameters were associated with an elimination half-life (T 1/2) of 63.43 ± 10.69 and 274.61 ± 8.48 min with IV and PO dosing, respectively. The calculated absorption T 1/2 was about 217 min. Compartmental analysis revealed T 1/2? of ~8.9 min and T 1/2? of ~86.6 min. The calculated absolute bioavailability of THQ was ~58 % with a lag time of ~23 min. The estimated THQ protein binding was >99 %. Therefore, THQ represents a compound with rapid elimination and relatively slower absorption following PO administration.
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Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.
J. Allergy Clin. Immunol.
PUBLISHED: 05-19-2014
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Dedicator of cytokinesis 8 (DOCK8) deficiency is typified by recurrent infections, increased serum IgE levels, eosinophilia, and a high incidence of allergic and autoimmune manifestations.
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Robotic-assisted laparoscopic excision of gossypiboma simulating bladder wall mass after 35 years of appendectomy.
Urol Ann
PUBLISHED: 05-17-2014
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Gossypiboma or textiloma are terms commonly used to describe a retained sponge in the body that is composed of sponge invested within a layer of foreign body reaction in the form of an abscess or an aseptic fibrotic reaction. These cases are rarely reported despite an incidence of 1:1,000-1,500 of abdominal or pelvic surgery. We report a patient who presented with an incidental supravesical mass discovered upon work up for frequency and suprapubic pain. He had appendectomy 35 years ago. The mass was excised by robotic-assisted laparoscopic technique. The pathologic evaluation came as gossypiboma.
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Host-specific microbial communities in three sympatric North Sea sponges.
FEMS Microbiol. Ecol.
PUBLISHED: 05-07-2014
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The establishment of next-generation technology sequencing has deepened our knowledge of marine sponge-associated microbiota with the identification of at least 32 phyla of Bacteria and Archaea from a large number of sponge species. In this study, we assessed the diversity of the microbial communities hosted by three sympatric sponges living in a semi-enclosed North Sea environment using pyrosequencing of bacterial and archaeal 16S ribosomal RNA gene fragments. The three sponges harbor species-specific communities each dominated by a different class of Proteobacteria. An ?-proteobacterial Rhodobacter-like phylotype was confirmed as the predominant symbiont of Halichondria panicea. The microbial communities of Haliclona xena and H. oculata are described for the first time in this study and are dominated by Gammaproteobacteria and Betaproteobacteria, respectively. Several common phylotypes belonging to Chlamydiae, TM6, Actinobacteria, and Betaproteobacteria were detected in all sponge samples. A number of phylotypes of the phylum Chlamydiae were present at an unprecedentedly high relative abundance of up to 14.4 ± 1.4% of the total reads, which suggests an important ecological role in North Sea sponges. These Chlamydiae-affiliated operational taxonomic units may represent novel lineages at least at the genus level as they are only 86-92% similar to known sequences.
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Colonisation resistance in the sand fly gut: Leishmania protects Lutzomyia longipalpis from bacterial infection.
Parasit Vectors
PUBLISHED: 05-01-2014
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Phlebotomine sand flies transmit the haemoflagellate Leishmania, the causative agent of human leishmaniasis. The Leishmania promastigotes are confined to the gut lumen and are exposed to the gut microbiota within female sand flies. Here we study the colonisation resistance of yeast and bacteria in preventing the establishment of a Leishmania population in sand flies and the ability of Leishmania to provide colonisation resistance towards the insect bacterial pathogen Serratia marcescens that is also pathogenic towards Leishmania.
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Synbiotic Lactobacillus acidophilus NCFM and cellobiose does not affect human gut bacterial diversity but increases abundance of lactobacilli, bifidobacteria and branched-chain fatty acids: a randomized, double-blinded cross-over trial.
FEMS Microbiol. Ecol.
PUBLISHED: 04-28-2014
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Probiotics, prebiotics, and combinations thereof, that is synbiotics, have been reported to modulate gut microbiota of humans. In this study, effects of a novel synbiotic on the composition and metabolic activity of human gut microbiota were investigated. Healthy volunteers (n = 18) were enrolled in a double-blinded, randomized, and placebo-controlled cross-over study and received synbiotic [Lactobacillus acidophilus NCFM (10(9)  CFU) and cellobiose (5 g)] or placebo daily for 3 weeks. Fecal samples were collected and lactobacilli numbers were quantified by qPCR. Furthermore, 454 tag-encoded amplicon pyrosequencing was used to monitor the effect of synbiotic on the composition of the microbiota. The synbiotic increased levels of Lactobacillus spp. and relative abundances of the genera Bifidobacterium, Collinsella, and Eubacterium while the genus Dialister was decreased (P < 0.05). No other effects were found on microbiota composition. Remarkably, however, the synbiotic increased concentrations of branched-chain fatty acids, measured by gas chromatography, while short-chain fatty acids were not affected.
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Isolated ureteric endometriosis presenting as a ureteric tumor.
Urol Ann
PUBLISHED: 03-27-2014
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A 32 year old lady presented with recurrent left flank pain for 4 weeks and chronic lower back pain. CT without contrast showed no stones and mild left hydronephrosis. CT of the spine suggested an inflammatory process at L5-S1 vertebra. The diagnosis was supported by a bone scan. Incidentally, the scan showed nonfunctioning left kidney. Diuretic renography confirmed poor perfusion and no excretion. A retrograde study showed narrowing of the ureter at the pelvic brim. Ureteroscopy showed a papillary mass in the lumen of the ureter from which multiple cold cup biopsies were taken. The pathology however was not conclusive. A robotic nephroureterectomy was carried out. Definitive pathology showed intrinsic endometriosis of the ureter. We conclude that endometriosis should be considered in the differential diagnosis of unexplained ureteric obstruction and ureteric lumen filling defects in young women.
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Clinical study evaluating pregabalin efficacy and tolerability for pain management in patients undergoing laparoscopic cholecystectomy.
Clin J Pain
PUBLISHED: 03-26-2014
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To evaluate the efficacy and tolerability of pregabalin in postoperative pain management after laparoscopic cholecystectomy (LC).
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Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.
Sci Transl Med
PUBLISHED: 03-14-2014
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Wiskott-Aldrich syndrome (WAS) is characterized by microthrombocytopenia, immunodeficiency, autoimmunity, and susceptibility to malignancies. In our hematopoietic stem cell gene therapy (GT) trial using a ?-retroviral vector, 9 of 10 patients showed sustained engraftment and correction of WAS protein (WASP) expression in lymphoid and myeloid cells and platelets. GT resulted in partial or complete resolution of immunodeficiency, autoimmunity, and bleeding diathesis. Analysis of retroviral insertion sites revealed >140,000 unambiguous integration sites and a polyclonal pattern of hematopoiesis in all patients early after GT. Seven patients developed acute leukemia [one acute myeloid leukemia (AML), four T cell acute lymphoblastic leukemia (T-ALL), and two primary T-ALL with secondary AML associated with a dominant clone with vector integration at the LMO2 (six T-ALL), MDS1 (two AML), or MN1 (one AML) locus]. Cytogenetic analysis revealed additional genetic alterations such as chromosomal translocations. This study shows that hematopoietic stem cell GT for WAS is feasible and effective, but the use of ?-retroviral vectors is associated with a substantial risk of leukemogenesis.
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Pyridoxal-5'-phosphate (MC-1), a vitamin B6 derivative, inhibits expressed P2X receptors.
Can. J. Physiol. Pharmacol.
PUBLISHED: 03-06-2014
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P2X receptors are cation-permeable ligand-gated ion channels that open in response to the binding of ATP. These receptors are present in many excitable cells, including neurons, striated muscle cells, epithelial cells, and leukocytes. They mediate fast excitatory neurotransmission in the central and peripheral nervous systems and are thought to be involved in neuropathic pain, inflammation, and cell damage following ischemia-reperfusion injuries. P2X receptors are thus a target for the development of new therapeutics to treat chronic pain and inflammation. In this study, we characterized the inhibition caused by pyridoxal-5'-phosphate, a natural metabolite of vitamin B6 (MC-1), of P2X?, P2X?, P2X?, and P2X?/? receptors stably expressed in HEK293 cells using the patch-clamp technique in the whole-cell configuration. We also tested a new approach using VC6.1, a modified cameleon calcium-sensitive fluorescent protein, to characterize the inhibition of P2X? and P2X?/?. MC-1 blocked these two P2X receptors, with an IC?? of 7 and 13 ?mol/L, respectively. P2X? exhibited the highest affinity for VC6.1, and the chimeric receptor P2X?/?, the lowest. The patch-clamp and imaging approaches gave similar results and indicated that VC6.1 may be useful for high throughput drug screening. Pyridoxal-5'-phosphate is an efficient P2X blocker and can be classified as a P2X antagonist.
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Use of Rotaflow pump for left ventricular assist device bridging for 15 weeks.
Asian Cardiovasc Thorac Ann
PUBLISHED: 03-04-2014
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Mechanical circulatory support systems have been described for short- and long-term left ventricular assistance. We report the use of a Rotaflow centrifugal pump in a 55-year-old man with ischemic cardiomyopathy and severe left ventricular dysfunction. He was successfully bridged to transplantation with 15 weeks of Rotaflow support, with no major adverse events.
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Identifying qualitative effects of different grazing types on below-ground communities and function in a long-term field experiment.
Environ. Microbiol.
PUBLISHED: 02-28-2014
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Herbivory is an important modulator of plant biodiversity and productivity in grasslands, but our understanding of herbivore-induced changes on below-ground processes and communities is limited. Using a long-term (17 years) experimental site, we evaluated impacts of rabbit and invertebrate grazers on some soil functions involved in carbon cycling, microbial diversity, structure and functional composition. Both rabbit and invertebrate grazing impacted soil functions and microbial community structure. All functional community measures (functions, biogeochemical cycling genes, network association between different taxa) were more strongly affected by invertebrate grazers than rabbits. Furthermore, our results suggest that exclusion of invertebrate grazers decreases both microbial biomass and abundance of genes associated with key biogeochemical cycles, and could thus have long-term consequences for ecosystem functions. The mechanism behind these impacts are likely to be driven by both direct effects of grazing altering the pattern of nutrient inputs and by indirect effects through changes in plant species composition. However, we could not entirely discount that the pesticide used to exclude invertebrates may have affected some microbial community measures. Nevertheless, our work illustrates that human activity that affects grazing intensity may affect ecosystem functioning and sustainability, as regulated by multi-trophic interactions between above- and below-ground communities.
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ICON: the early diagnosis of congenital immunodeficiencies.
J. Clin. Immunol.
PUBLISHED: 02-17-2014
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Primary immunodeficiencies are intrinsic defects in the immune system that result in a predisposition to infection and are frequently accompanied by a propensity to autoimmunity and/or immunedysregulation. Primary immunodeficiencies can be divided into innate immunodeficiencies, phagocytic deficiencies, complement deficiencies, disorders of T cells and B cells (combined immunodeficiencies), antibody deficiencies and immunodeficiencies associated with syndromes. Diseases of immune dysregulation and autoinflammatory disorder are many times also included although the immunodeficiency in these disorders are often secondary to the autoimmunity or immune dysregulation and/or secondary immunosuppression used to control these disorders. Congenital primary immunodeficiencies typically manifest early in life although delayed onset are increasingly recognized. The early diagnosis of congenital immunodeficiencies is essential for optimal management and improved outcomes. In this International Consensus (ICON) document, we provide the salient features of the most common congenital immunodeficiencies.
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BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.
J. Allergy Clin. Immunol.
PUBLISHED: 02-12-2014
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Severe combined immunodeficiency (SCID) is a syndrome characterized by profound T-cell deficiency. BCG vaccine is contraindicated in patients with SCID. Because most countries encourage BCG vaccination at birth, a high percentage of patients with SCID are vaccinated before their immune defect is detected.
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Epithelioid trophoblastic tumor: report of two cases in postmenopausal women with literature review and emphasis on cytological findings.
Acta Cytol.
PUBLISHED: 02-07-2014
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Epithelioid trophoblastic tumor (ETT) is a rare gestational trophoblastic neoplasm of intermediate trophoblasts. It was first described by Shih and Kurman [Am J Surg Pathol 1998;22:1393-1403] who outlined its clinicopathologic characteristics in 14 cases, establishing it as a distinct entity of gestational trophoblastic tumors. It represents 1.39% of all gestational trophoblastic diseases. Most cases are reported in reproductive-age women following a prior gestation with a time interval between 2 weeks and 30 years. ETT is extremely rare in postmenopausal women. It is commonly misdiagnosed as a squamous cell carcinoma (SCC), poorly differentiated carcinoma or another gestational trophoblastic tumor. Limited data is available regarding its cytological features on Pap smears.
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Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.
Clin. Immunol.
PUBLISHED: 01-21-2014
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DOCK8 deficiency is a primary immunodeficiency characterized by recurrent sinopulmonary infections, dermatitis with cutaneous infections, elevated serum IgE levels, eosinophilia, and a high incidence of food allergy. Given the seriousness of DOCK8 deficiency, it is important to recognize it early and initiate appropriate therapy. Diagnosis relies on examining DOCK8 protein expression and sequencing of the 48 exons in the DOCK8 gene, but these assays are not always readily available. A major problem facing clinicians is that DOCK8 deficiency shares many clinical and laboratory features with severe atopic dermatitis. Here, we have identified biomarkers routinely measured by flow cytometry on whole blood in clinical immunology laboratories that may be used in distinguishing DOCK8 deficiency from severe atopic dermatitis. The use of these biomarkers may help the clinician identify those patients who are most likely to have DOCK8 mutations and would benefit from further specialized diagnostic testing.
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Loss of microbial diversity in soils is coincident with reductions in some specialized functions.
Environ. Microbiol.
PUBLISHED: 01-15-2014
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Loss of microbial diversity is considered a major threat because of its importance for ecosystem functions, but there is a lack of conclusive evidence that diversity itself is reduced under anthropogenic stress, and about the consequences of diversity loss. Heavy metals are one of the largest, widespread pollutant types globally, and these represent a significant environmental stressor for terrestrial microbial communities. Using combined metagenomics and functional assays, we show that the compositional and functional response of microbial communities to long-term heavy metal stress results in a significant loss of diversity. Our results indicate that even at a moderate loss of diversity, some key specialized functions (carried out by specific groups) may be compromised. Together with previous work, our data suggest disproportionate impact of contamination on microbes that carry out specialized, but essential, ecosystem functions. Based on these findings, we propose a conceptual framework to explicitly consider diversity of functions and microbial functional groups to test the relationship between biodiversity and soil functions.
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Assessment of osteopontin in early breast cancer: correlative study in a randomised clinical trial.
Breast Cancer Res.
PUBLISHED: 01-10-2014
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Osteopontin (OPN) is a malignancy-associated glycoprotein that contributes functionally to tumor aggressiveness. In metastatic breast cancer, we previously demonstrated that elevated OPN in primary tumor and blood was associated with poor prognosis.
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Betaine supplementation protects against renal injury induced by cadmium intoxication in rats: role of oxidative stress and caspase-3.
Environ. Toxicol. Pharmacol.
PUBLISHED: 01-02-2014
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Cadmium (Cd) is an environmental and industrial pollutant that can induce a broad spectrum of toxicological effects that affect various organs in humans and experimental animals. This study aims to investigate the effect of betaine supplementation on cadmium-induced oxidative impairment in rat kidney. The animals were divided into four groups (n=10 per group): control, cadmium, betaine and betaine+cadmium (1) saline control group; (2) cadmium group in which cadmium chloride (CdCl2) was given orally at a daily dose of 5 mg/kg body weight for four weeks; (3) betaine group, in which betaine was given to rats at a dose of 250 mg/kg/day, orally via gavage for six weeks; (4) cadmium+betaine group in which betaine was given at a dose of 250 mg/kg/day, orally via gavage for two weeks prior to cadmium administration and concurrently during cadmium administration for four weeks. Cadmium nephrotoxicity was indicated by elevated blood urea nitrogen (BUN) and serum creatinine levels. Kidneys from cadmium-treated rats showed an increase in lipid peroxidation measured as thiobarbituric acid-reactive substances (TBARS) concentration and reductions in total antioxidant status (TAS), reduced glutathione (GSH) content, glutathione peroxidase (GSH-Px) activity, superoxide dismutase concentration (SOD) and catalase activity. Caspase-3 activity, a marker of DNA damage was also elevated in renal tissues of cadmium-treated rats. Pre-treatment of rats with betaine substantially attenuated the increase in BUN and serum creatinine levels. Betaine also inhibited the increase in TBARS concentration and reversed the cadmium-induced depletion in total antioxidant status, GSH, GSH-Px, SOD and catalase concentrations in renal tissues. Renal caspase-3 activity was also reduced with betaine supplementation. These data emphasize the importance of oxidative stress and caspase signaling cascade in cadmium nephrotoxicity and suggest that betaine pretreatment reduces severity of cadmium nephrotoxicity probably via antioxidant action and suppression of apoptosis.
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Visual rehabilitation in low-moderate keratoconus: intracorneal ring segment implantation followed by same-day topography-guided photorefractive keratectomy and collagen cross linking.
Int J Ophthalmol
PUBLISHED: 01-01-2014
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To present the results of same-day topography-guided photorefractive keratectomy (TG-PRK) and corneal collagen crosslinking (CXL) after previous intrastromal corneal ring segment (ISCR) implantation for keratoconus.
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Prevalence of stress in junior doctors during their internship training: a cross-sectional study of three Saudi medical colleges' hospitals.
Neuropsychiatr Dis Treat
PUBLISHED: 01-01-2014
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Medical science is perceived as a stressful educational career, and medical students experience monstrous stress during their undergraduate studies, internship, and residency training, which affects their cognitive function, practical life, and patient care. In the present study, an assessment of the prevalence of self-perceived stress among new medical graduates during their internship training has been performed, and correlations of self-perceived stress with sex, marital status, and clinical rotations have been evaluated.
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Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Front Immunol
PUBLISHED: 01-01-2014
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We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
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Association between HLA variations and chronic hepatitis B virus infection in Saudi Arabian patients.
PLoS ONE
PUBLISHED: 01-01-2014
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Hepatitis B virus (HBV) infection is a leading cause of liver diseases including cirrhosis and hepatocellular carcinoma. Human leukocyte antigens (HLAs) play an important role in the regulation of immune response against infectious organisms, including HBV. Recently, several genome-wide association (GWAS) studies have shown that genetic variations in HLA genes influence disease progression in HBV infection. The aim of this study was to investigate the role of HLA genetic polymorphisms and their possible role in HBV infection in Saudi Arabian patients. Variations in HLA genes were screened in 1672 subjects who were divided according to their clinical status into six categories as follows; clearance group, inactive carriers, active carriers, cirrhosis, hepatocellular carcinoma (HCC) patients and uninfected healthy controls. Three single nucleotide polymorphisms (SNPs) belonged to HLA-DQ region (rs2856718, rs7453920 and rs9275572) and two SNPs belonged to HLA-DP (rs3077 and rs9277535) were studied. The SNPs were genotyped by PCR-based DNA sequencing (rs2856718) and allele specific TaqMan genotyping assays (rs3077, rs7453920, rs9277535 and rs9275572). The results showed that rs2856718, rs3077, rs9277535 and rs9275572 were associated with HBV infection (p?=?0.0003, OR?=?1.351, CI?=?1.147-1.591; p?=?0.041, OR?=?1.20, CI?=?1.007-1.43; p?=?0.045, OR?=?1.198, CI?=?1.004-1.43 and p?=?0.0018, OR?=?0.776, CI?=?0.662-0.910, respectively). However, allele frequency of rs2856718, rs7453920 and rs9275572 were found more in chronically infected patients when compared to clearance group infection (p?=?0.0001, OR?=?1.462, CI?=?1.204-1.776; p?=?0.0178, OR?=?1.267, CI?=?1.042-1.540 and p?=?0.010, OR?=?0.776, CI?=?0.639-0.942, respectively). No association was found when polymorphisms in HLA genes were compared in active carriers versus cirrhosis/HCC patients. In conclusion, these results suggest that variations in HLA genes could affect susceptibility to and clearance of HBV infection in Saudi Arabian patients.
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Distribution patterns of toxic metals in the marine oyster Saccostrea cucullata from the Arabian Sea in Oman: spatial, temporal, and size variations.
Springerplus
PUBLISHED: 12-01-2013
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The variations in size and spatial and temporal variations in concentrations of toxic metals (cadmium, mercury, and lead) in oyster tissues were studied. Samples were collected at monthly intervals over a 1-year period from three locations along the southern coast of Oman (Mirbat, Hadbeen, and Sadah). Cadmium and lead were analyzed using an inductively coupled plasma atomic emission spectrometer, and mercury was analyzed using a direct mercury analyzer. The annual mean concentrations in oyster tissues sampled from the three locations and from different time periods ranged from 2.64 to 3.80 mg kg(-1) for cadmium, 0.009 to 0.02 mg kg(-1) for lead, and 0.01 to 0.02 mg kg(-1) for mercury. The temporal effect on cadmium concentrations was more distinct than the local site-specific effect, with higher concentrations recorded in tissues during the summer season than in the winter season. Moreover, within each site, a significant time-specific dependence on the toxic metal concentration differences was recorded. Lipid content was found to influence mercury concentrations in the oysters; however, there was no relationship between cadmium or lead and moisture or lipid content. No distinct relationships were observed between the size of oysters and metal uptake by the oyster. The results were discussed in relation to those obtained from related species in the seas of Oman and worldwide.
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Correlation between hepatitis B surface antigen titers and HBV DNA levels.
Saudi J Gastroenterol
PUBLISHED: 11-08-2013
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To assess the correlation between serum HBsAg titers and hepatitis B virus (HBV) DNA levels in patients with hepatitis B envelop antigen-negative (HBeAg -ve) HBV genotype-D (HBV/D) infection.
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Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3.
J. Med. Genet.
PUBLISHED: 09-24-2013
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Hepatitis B virus (HBV) affects millions of people worldwide. While some people are able to clear the virus following the first encounter, those who develop chronic infection manifest remarkable clinical heterogeneity that ranges from asymptomatic carrier state to cirrhosis and hepatocellular carcinoma. Despite extensive studies, little is known about genetic host factors that influence the outcome of chronic HBV infection. Thus, we conducted this study to investigate the genetic risk of developing active liver disease among chronic carriers of HBV.
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Mobile teledermatology--patient satisfaction, diagnostic and management concordance, and factors affecting patient refusal to participate in Saudi Arabia.
J Telemed Telecare
PUBLISHED: 09-03-2013
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We evaluated the use of a 4G smart phone for mobile teledermatology. A dermatologist took pictures of skin images with a mobile phone (8 Mpixel camera resolution) and made a face-to-face diagnosis. The images were transmitted to a second dermatologist who viewed them on a similar mobile phone and made an independent diagnosis for comparison. Images were taken and transmitted only after receiving informed consent from the patients. A total of 166 consecutive patients were included in the study (97 male and 69 female). A questionnaire to assess patient satisfaction was administered to each patient. Most of the responders were highly satisfied with teledermatology. However, 23 patients (14%) refused photography of the skin lesions (21 female and 2 males). The main reasons for refusal to be photographed were stated as social or religious. The broad categorical diagnostic and management concordance (i.e. when considering at least one of the diagnoses to be similar) was 95%. Specific diagnostic concordance varied according to the disease. The average kappa coefficient was 0.66 for diagnostic concordance and 0.82 for management concordance. Refusal to be photographed--a problem not limited to teledermatology--needs to be considered when designing teledermatology protocols for larger scale implementation in areas like the Middle East.
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Comparative studies and modeling structures of two new isomers containing binuclear Pd(II) complexes derived from 2,4,6-tri-(2-pyridyl)-1,3,5-triazine (TPTZ).
Spectrochim Acta A Mol Biomol Spectrosc
PUBLISHED: 08-26-2013
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The synthesis and comparative studies of two new binuclear Pd(II) isomer complexes derived from TPTZ, [2,4,6-tri-(2-pyridyl)-1,3,5-triazine], have been synthesized and characterized. Their structures have been investigated by elemental analyses, spectral (IR, UV-vis, mass and (1)H-NMR) and thermal measurements. Electronic and magnetic studies suggest a distorted square-planar around the two Pd(II) ions. The HOMO, LUMO and DFT parameters on the atoms have been calculated to confirm the geometry of the ligand and their complexes. Kinetic parameters were determined using Coats-Redfern and Horowitz-Metzger methods. Also, the geometry of the two isomers is confirmed using DFT method from DMOL(3) calculations. Moreover, the two Pd(II) complexes have different specific optical rotation where the red Pd(II) complex has dextrorotatory (+5.68) while the yellow Pd(II) complex has levorotatory (-9.37). The results of biological activity for the two Pd(II) complexes promised to be effective in tumor treatment.
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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
J. Allergy Clin. Immunol.
PUBLISHED: 08-22-2013
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The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. Pathogenic mutations in the RAG1/2 genes result in various forms of primary immunodeficiency, ranging from T(-)B(-) severe combined immune deficiency to delayed-onset disease with granuloma formation, autoimmunity, or both. It is not clear what contributes to such heterogeneity of phenotypes.
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Honorary authorship in biomedical journals: how common is it and why does it exist?
J Med Ethics
PUBLISHED: 08-17-2013
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The number of coauthors in the medical literature has increased over the past 50 years as authorship continues to have important academic, social and financial implications.
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Invasive mucormycosis in a patient with liver cirrhosis: case report and review of the literature.
Hepat Mon
PUBLISHED: 08-01-2013
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Cutaneous Mucormycosis is a rare opportunistic infection caused by Zygomycetes class of fungi that is often fatal, requiring aggressive local control as well as systemic therapy. Few cases of mucormycosis were described in patients with liver cirrhosis, mostly rhino-orbital. To our knowledge, only two cases of upper extremity involvement was reported in cirrhosis while a few cases were reported in the post-transplant setting. We report herein the third case of upper extremity mucor infection in the setting of liver cirrhosis.
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Reforms and emerging noncommunicable disease: some challenges facing a conflict-ridden country--the case of the Syrian Arab Republic.
Int J Health Plann Manage
PUBLISHED: 06-25-2013
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The past year witnessed considerable turbulence in the Arab world-in this case, Syria, a lower middle-income country with a record of a strong public health infrastructure. This paper explores the current challenges facing its health system from reforms, civil strife and international sanctions all of which we argue have serious implications for population health. The health sector in Syria was little known, and until recently, it was well integrated to provide preventive and specialized care when needed. Regionally, it was one of the few countries ready and capable of addressing the challenges of demographic and epidemiologic transition with a long-standing emphasis on primary care and prevention, unlike most countries of the region. This context has changed dramatically through the recent implementation of reforms and the current civil war. Changes to financing, management and the delivery of health service placed access to services in jeopardy, but now, these are compounded by the destruction from an intractable and violent conflict and international sanctions. This paper explores some of the combined effects of reforms, conflict and sanctions on population health.
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Reduced FHIT expression is associated with mismatch repair deficient and high CpG island methylator phenotype colorectal cancer.
J. Histochem. Cytochem.
PUBLISHED: 06-24-2013
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Colorectal cancer (CRC) is a heterogeneous disease and a major contributor to world cancer mortality rates. Molecular subtypes of CRC have become standards for CRC classification and have established prognostic potential. Here, we attempt to corroborate and provide further insight pertinent to the fragile histidine triad (FHIT) gene in microsatellite instable (MSI), microsatellite stable (MSS), and CpG island methylator phenotype (CIMP) CRC subtypes. We employed array comparative genomic hybridization and multiplex ligation-dependent probe amplification (MLPA) techniques to survey genomic aberrations in FHIT gene and their effects on FHIT protein expression using immunohistochemistry (IHC) in a CRC cohort. We further studied FHIT protein expression by IHC in a larger CRC cohort defined for its mismatch repair (MMR) protein expression and genomic methylation profiles. Our results show FHIT genomic deletions centered in exons 4 and 5 in most of MSI-CRC samples. Moreover, we confirmed the significant association of FHIT protein expression diminution (p=0.035) with MSI-CRC. In the larger cohort, reduced FHIT protein expression was significantly associated with CIMP-high subtype of CRC (p=0.009) and loss of PMS2 protein expression (p=0.017). We conclude that FHIT expression may be a valuable marker for CRC subtyping, and its diagnostic, prognostic, and therapeutic potential should be perused.
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Long-term outcome of genital reconstruction of Middle Eastern women with congenital adrenal hyperplasia.
Urol Ann
PUBLISHED: 06-05-2013
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There is a paucity of data on the long-term outcome of genital reconstruction of female children with congenital adrenal hyperplasia (CAH) as they become adult women. We report on the surgical outcome general condition and marriage status.
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IL28B polymorphisms predict the virological response to standard therapy in patients with chronic hepatitis C virus genotype 4 infection.
Hepatol Int
PUBLISHED: 06-01-2013
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Genome-wide association studies have recently revealed that several single-nucleotide polymorphisms (SNPs) in the interleukin (IL) 28B genes can predict the sustained virological response (SVR) to pegylated interferon-?2a/b plus ribavirin in hepatitis C virus (HCV)-genotype 1 patients. However, data for patients infected with HCV genotype 4 (HCV-G4) are limited.
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Structural comparative studies on new Mn(II), Cr(III) and Ru(III) complexes derived from 2,4,6-tri-(2-pyridyl)-1,3,5-triazine (TPTZ).
Spectrochim Acta A Mol Biomol Spectrosc
PUBLISHED: 05-13-2013
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The structure of a new Mn(II) complex, [Mn(TPTZ)Cl2(H2O)]?H2O, was established by a single crystal X-ray diffraction. Crystal data are as follow: monoclinic, P21/c,a = 8.7202 (3)Å, b = 11.5712 (4)Å, c = 20.8675 (9)Å, ?=11 (18) × 1010, V = 2029.27 (13)Å(3), Z = 4. The HOMO, LUMO and other DFT parameters on the atoms have been calculated to confirm the geometry of the ligand and its complexes using material studio program. The complexes were characterized by elemental analyses, spectral, magnetic, thermal and cyclic voltammetry measurements. Electronic spectra and magnetic moments of the complexes suggest distorted-octahedral structures around the metal ions (Mn(II), Cr(III) and Ru(III)). The redox properties were investigated by cyclic voltammetry. Kinetic parameters were determined using Coats-Redfern and Horowitz-Metzger methods. The results of DNA studies of the metal complexes promised to be effective in tumour treatment.
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454 pyrosequencing analyses of bacterial and archaeal richness in 21 full-scale biogas digesters.
FEMS Microbiol. Ecol.
PUBLISHED: 05-11-2013
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The microbial community of 21 full-scale biogas reactors was examined using 454 pyrosequencing of 16S rRNA gene sequences. These reactors included seven (six mesophilic and one thermophilic) digesting sewage sludge (SS) and 14 (ten mesophilic and four thermophilic) codigesting (CD) various combinations of wastes from slaughterhouses, restaurants, households, etc. The pyrosequencing generated more than 160,000 sequences representing 11 phyla, 23 classes, and 95 genera of Bacteria and Archaea. The bacterial community was always both more abundant and more diverse than the archaeal community. At the phylum level, the foremost populations in the SS reactors included Actinobacteria, Proteobacteria, Chloroflexi, Spirochetes, and Euryarchaeota, while Firmicutes was the most prevalent in the CD reactors. The main bacterial class in all reactors was Clostridia. Acetoclastic methanogens were detected in the SS, but not in the CD reactors. Their absence suggests that methane formation from acetate takes place mainly via syntrophic acetate oxidation in the CD reactors. A principal component analysis of the communities at genus level revealed three clusters: SS reactors, mesophilic CD reactors (including one thermophilic CD and one SS), and thermophilic CD reactors. Thus, the microbial composition was mainly governed by the substrate differences and the process temperature.
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Clinical characteristics of patients with hepatocellular carcinoma in a middle eastern population.
Hepat Mon
PUBLISHED: 05-01-2013
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Hepatocellular carcinoma (HCC) is one of the leading causes of death in Saudi male patients. Local clinical and demographic data of this disease are scarce.
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Vitamin D intake and other risk factors for vitamin D insufficiency in Middle Eastern people living in the UK: a comparison of cultural and ethnic groups.
Ecol Food Nutr
PUBLISHED: 04-30-2013
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A questionnaire was designed to obtain information about factors affecting vitamin D status in Middle Eastern people living in the UK. A total of 242 questionnaires were returned out of 350 distributed. A total of 85% of the sample was estimated to have a low vitamin D intake (< 5 ?g/d). Other risk factors for vitamin D insufficiency included covering skin from sunlight (62% men and 84% women); low use of vitamin D containing supplements (18.5%) and being overweight or obese (49% men and 44% women). Vitamin D intake was lowest in the Kurdish ethnic group (2.18 ?g/d) and in those with primary (1.83 ?g/d) and secondary school (2.14 ?g/d) level education compared to higher education (3.0-3.59 ?g/d). Vitamin D intake was highest in those aged 40-49 years (4.0 ?g/d), those born in the Levant (4.29 ?g/d), and in those who were obese (3.60 ?g/d).
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Accuracy of international guidelines for identifying significant fibrosis in hepatitis B e antigen--negative patients with chronic hepatitis.
Clin. Gastroenterol. Hepatol.
PUBLISHED: 04-22-2013
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Differing threshold levels of hepatitis B virus (HBV) DNA and alanine aminotransferase (ALT) are recommended by international guidelines for commencement of antiviral therapy. These guidelines advocate therapy for patients with significant fibrosis (METAVIR score ?F2); we assessed the accuracy of these guideline-defined thresholds in identifying patients with ?F2 fibrosis.
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Parasitic infestation in pediatric and adolescent appendicitis: a local experience.
Oman Med J
PUBLISHED: 04-20-2013
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The relationship between parasites and pediatric appendicitis is a highly debatable issue. This study aims to investigate the role of parasitic infestation in the etiology of acute pediatric appendicitis.
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Ciprofloxacin-associated posterior reversible encephalopathy.
BMJ Case Rep
PUBLISHED: 04-16-2013
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Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological syndrome characterised by numerous symptoms and of no specific aetiology. Headache, confusion, seizures, cortical visual disturbances or blindness are the key symptoms. As this syndrome is reversible and readily treated by interrupting or discontinuing the aetiology, it should sharply be acknowledged. Ciprofloxacin was associated with PRES in an adolescent male treated from chest infection. It was managed in a hospital intensive care unit and was observed until disappearance.
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A framework for a competency based medical curriculum in saudi arabia.
Mater Sociomed
PUBLISHED: 04-11-2013
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We recently adopted a competency based curriculum based on the CanMEDs model. This shift required the cross-mapping of all key CanMEDs competencies with the competencies for higher education in Saudi Arabia as per the Saudi National Commission for Academic Accreditation & Assessment (NCAAA) guidelines.
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Genetic variation at -1878 (rs2596542) in MICA gene region is associated with chronic hepatitis B virus infection in Saudi Arabian patients.
Exp. Mol. Pathol.
PUBLISHED: 04-10-2013
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MHC class I polypeptide-related chain A (MICA), mapping to 6p21.33, belongs to the non-classical class I family and its expression is induced by several stress factors including viral infection. A recent genome-wide association study has identified a single nucleotide polymorphism (SNP) of MICA, rs2596542 to be significantly associated with hepatitis C-induced hepatocellular carcinoma (HCC) in a Japanese population. Therefore, this study aims to investigate whether the SNP rs2596542 plays any role in hepatitis B virus (HBV) sero-clearance or in the development of complications associated with chronic HBV such as cirrhosis and/or HCC. TaqMan genotyping assay was used to identify the association of the SNP among 584 normal healthy controls and 777 HBV-infected patients. The patient group was further categorized into inactive carriers (Group I), active carriers (Group II), cirrhosis (Group III) and cirrhosis-HCC (Group IV). Variation at this SNP was found to be significantly more frequent in control subjects than in patients (OR=0.852; 95% C.I.=0.730-0.994; p=0.0415). Also, the SNP was found to have a highly significant association when the inactive carriers were compared to the rest of the patients (OR=1.308; 95% C.I.=1.058-1.617; p=0.0130). The TT genotype was found to occur more frequently among active HBV carriers (groups II, III and IV) when compared to inactive HBV carriers, thus suggesting that the rs2596542-T may be recessively associated with an active HBV infection. However, no significant association was observed in the case of HBV-related cirrhosis or HCC. These findings indicate that the MICA rs2596542 has a significant role in HBV infection.
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A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
J. Clin. Immunol.
PUBLISHED: 04-09-2013
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The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased exponentially, especially in the past decade. The biennial classification published by the IUIS PID expert committee is therefore quickly expanding, providing valuable information regarding the disease-causing genotypes, the immunological anomalies, and the associated clinical features of PIDs. These are grouped in eight, somewhat overlapping, categories of immune dysfunction. However, based on this immunological classification, the diagnosis of a specific PID from the clinicians observation of an individual clinical and/or immunological phenotype remains difficult, especially for non-PID specialists. The purpose of this work is to suggest a phenotypic classification that forms the basis for diagnostic trees, leading the physician to particular groups of PIDs, starting from clinical features and combining routine immunological investigations along the way. We present 8 colored diagnostic figures that correspond to the 8 PID groups in the IUIS Classification, including all the PIDs cited in the 2011 update of the IUIS classification and most of those reported since.
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Concentration and exposure assessment of mercury in commercial fish and other seafood marketed in Oman.
J. Food Sci.
PUBLISHED: 04-02-2013
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The results of this study present analytical data of the mercury levels in several fish and shellfish species to create awareness among individuals of the risks associated with consuming fish contaminated with mercury. Mercury concentrations varied from a mean of 0.02 mg/kg in Indian mackerel to 0.19 mg/kg in shark in both fresh and frozen fish, from 0.02 mg/kg in sardines to 0.18 mg/kg in skipjack tuna in canned fish, and from 0.02 mg/kg in Indian mackerel to 0.79 mg/kg in shark in dried fish. Shellfish contained a slightly higher amount of mercury than fresh or frozen fish with a mean of 0.09 mg/kg. Trophic position, followed by habitat, was the most important factors for variability in mercury concentrations in fish and shellfish. The maximum safe weekly intake (MSWI) values of mercury were significantly higher for herbivores than for carnivores. The MSWI value for total mercury in the case of consuming most (72%) fish species was more than 5 kg; however, the MSWI value was never more than 5 kg in most (66%) shellfish species. Risks were identified upon consumption of 120 g of dried shark when exceeding the provisional tolerable weekly intake threshold (1.6 ?g/kg) for methylmercury. Therefore, fish-eating populations should reduce the quantity of dried shark to efficiently diminish the exposure to mercury.
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Revising the upper limit of normal for levels of serum alanine aminotransferase in a Middle Eastern population with normal liver histology.
Dig. Dis. Sci.
PUBLISHED: 03-20-2013
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Recently, the upper limits of normal (ULN) for alanine-aminotransferase (ALT) has been recommended to be lowered to ? 30 U/l in men and ? 19 U/l in women.
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HCV genotypes among 1013 Saudi nationals: a multicenter study.
Ann Saudi Med
PUBLISHED: 03-06-2013
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Hepatitis C virus (HCV) genotype (G) knowledge is essential for determining type, duration and rate of response to antiviral therapy, possible route of HCV transmission, and future vaccine development. Our aim was to study HCV genotypes and to provide precise data on genotype distribution in both genders and different age groups amongst Saudi patients.
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Immunocytochemical detection of raf kinase inhibitor protein and human papillomavirus profiling of normal and abnormal cervical ThinPrep samples.
Acta Cytol.
PUBLISHED: 02-25-2013
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This study investigates the potential value of Raf kinase inhibitor protein (RKIP) as a marker of normal squamous cells in ThinPrep slides. RKIP was evaluated for its ability to distinguish between normal and abnormal cervical samples in the context of human papillomavirus (HPV) infections.
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Viral load of human papillomavirus in women with normal and abnormal cervical cytology in Kuwait.
J Infect Dev Ctries
PUBLISHED: 02-19-2013
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Human papillomaviruses (HPV) are the most commonly known sexually transmitted agents. Almost all cases of cervical cancer are caused by persistent infection. This study was conducted to ascertain whether there is a difference in HPV load in cervical samples with normal and abnormal cervical cytology reports in Kuwait.
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Pressure reflection in the pulmonary circulation by echocardiography in patients with left heart disease indicates reactive pulmonary hypertension.
Int. J. Cardiol.
PUBLISHED: 02-17-2013
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The two hemodynamic profiles in left heart disease (LHD) with pulmonary hypertension (PH), passive PH with increased pulmonary venous pressure and reactive PH with increased pulmonary vascular resistance (PVR > 3 Wood units, WU), are difficult to distinguish non-invasively. We hypothesized that echocardiographic signs of pressure reflection (PR) in the pulmonary circulation can be used to diagnose reactive PH.
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Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Orphanet J Rare Dis
PUBLISHED: 02-14-2013
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Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. If left untreated with biotin, the disease can progress to severe quadriparesis and even death.
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Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
J. Allergy Clin. Immunol.
PUBLISHED: 02-04-2013
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Dedicator of cytokinesis 8 (DOCK8) mutations are responsible for a rare primary combined immunodeficiency syndrome associated with severe cutaneous viral infections, increased IgE levels, autoimmunity, and malignancy. Natural killer (NK) cells are essential for tumor surveillance and defense against virally infected cells. NK cell function relies on Wiskott-Aldrich syndrome protein for filamentous actin (F-actin) accumulation at the lytic NK cell immunologic synapse. DOCK8 activates cell division cycle 42, which, together with Wiskott-Aldrich syndrome protein, coordinates F-actin reorganization. Although abnormalities in T- and B-cell function have been described in DOCK8-deficient patients, the role of NK cells in this disease is unclear.
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Phylogenetic analysis of partial L1 gene of 10 human papillomavirus types isolated most commonly from women with normal and abnormal cervical cytology in Kuwait.
Arch. Virol.
PUBLISHED: 02-01-2013
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This study was undertaken to evaluate the presence of human papillomavirus (HPV) variants in cervical samples. L1 genetic variable region was studied in 10 HPV types: HPV 11, 16, 18, 33, 53, 54, 56, 61, 66 and 81. A total of 116 isolates were examined, including 47 HPVs isolated from women with normal cytology and 69 with abnormal cytology of different grades. HPV sequences were detected using MY09/MY11 consensus primers. Fifty silent and 65 missense mutations were detected. Two missense mutations were detected in HPV18, 3 in HPV56 and 17 in HPV61. The number of missense mutations per isolate ranged from 1 to 3, except in HPV54 and HPV61, where 7 and 11 missense mutations were found, respectively. Most of the isolates (52.3 %) with missense mutations were isolated from women with abnormal cervical samples. Low-grade squamous intraepithelial lesion cytology diagnosis dominated all cervical abnormalities. This study is the first on the identification of molecular variants in the Middle East and suggests the circulation of new HPV subtypes and variants in Kuwait, which needs to be confirmed by further analysis of the complete HPV genome.
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Investigating the diversity of pseudomonas spp. in soil using culture dependent and independent techniques.
Curr. Microbiol.
PUBLISHED: 01-23-2013
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Less than 1 % of bacterial populations present in environmental samples are culturable, meaning that cultivation will lead to an underestimation of total cell counts and total diversity. However, it is less clear whether this is also true for specific well-defined groups of bacteria for which selective culture media is available. In this study, we use culture dependent and independent techniques to describe whether isolation of Pseudomonas spp. on selective nutrient-poor NAA 1:100 agar-medium can reflect the full diversity, found by pyrosequencing, of the total soil Pseudomonas community in an urban waste field trial experiment. Approximately 3,600 bacterial colonies were isolated using nutrient-poor NAA 1:100 medium from soils treated with different fertilizers; (i) high N-level sewage sludge (SA), (ii) high N-level cattle manure (CMA), and (iii) unfertilized control soil (U). Based on Pseudomonas specific quantitative-PCR and Pseudomonas CFU counts, less than 4 % of Pseudomonas spp. were culturable using NAA 1:100 medium. The Pseudomonas selectivity and specificity of the culture medium were evaluated by 454 pyrosequencing of 16S rRNA gene amplicons generated using Bacteria- and Pseudomonas-specific primers. Pyrosequencing results showed that most isolates were Pseudomonas and that the culturable fraction of Pseudomonas spp. reflects most clusters of the total Pseudomonas diversity in soil. This indicates that NAA 1:100 medium is highly selective for Pseudomonas species, and reveals the ability of NAA 1:100 medium to culture mostly the dominant Pseudomonas species in soil.
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A study of in vitro antibacterial activity of lanthanides complexes with a tetradentate Schiff base ligand.
Asian Pac J Trop Biomed
PUBLISHED: 01-23-2013
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To establish the antibacterial activity of lanthanides complexes with a tetradentate Schiff base ligand L.
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