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Find video protocols related to scientific articles indexed in Pubmed.
An unusual location of a pilar sheath acanthoma.
Int J Trichology
PUBLISHED: 11-05-2014
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Pilar sheath acanthoma is a rare, benign follicular hamartoma that frequently presents as an asymptomatic, flesh-colored papule with a central opening. First described in 1978 by Mehregan and Brownstein, these lesions generally appear on the upper lip of elderly patients. We present an interesting case of a pilar sheath acanthoma presenting on the earlobe in a middle-aged male. To the best of our knowledge, this is the first reported case of a pilar sheath acanthoma found in such a unique location.
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Refocussing our attention on 'need' in the application of telehealth.
Stud Health Technol Inform
PUBLISHED: 11-04-2014
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Given that e-health (including telehealth) is an opportunity cost (i.e., redirecting already scarce healthcare resources away from more traditional healthcare delivery needs), performing needs assessment ensures that investment of resources in e-health is appropriate. Yet the current literature shows research is on clever, narrow, or 'one disease' telehealth applications (e.g., telediabetes; telesurgery), or creation of electronic records (e.g., EHR's; EMRs; HIS's) and accumulation of 'big data' (e.g. biosurveillance). Given the reality of comorbidity, the complexity of telesurgery, and the lack of successful country-wide EHR implementations, are we using our investments in e-health wisely? The requirement for needs assessment to guide selection and implementation of evidence-based and needs-based e-health solutions is seldom adhered to. We must refocus our efforts on more pragmatic needs. Where might insight to evidence-based health needs come from? Using South Africa as an example, this paper highlights several readily available resources, and how they may guide future telehealth implementations in South Africa and elsewhere.
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The spectrum of needed e-Health capacity building - towards a conceptual framework for e-Health 'training'.
Stud Health Technol Inform
PUBLISHED: 11-04-2014
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To ensure the benefits of e-Health are maximised, e-Health capacity building requires a formal and logical structure that describes broad areas that must be addressed. In this paper a Conceptual Framework for e-Health Training is derived that could guide well-thought-out and consistent development of future capacity building efforts. Consideration of e-health education needs is the mandate of the International Society for Telemedicine and eHealth (ISfTeH) Education Working Group. Through this Group a structured but generic 2 - 3 day telehealth training programme for healthcare professionals was developed and trialed, and the Group has been asked to develop a telehealth curriculum. Ongoing debate and feedback has made it clear that this is insufficient. In an effort to establish an Conceptual Framework for e-Health Training four aspects or levels of instruction are considered necessary at this time: 'education' of a small number of personnel leading to an academic graduate qualification (MSc, PhD); 'instruction' of a slightly larger number of personnel (e.g., to provide proficient network managers); 'teaching' of a still larger number of personnel in terms of the use of specific technologies, devices, and services; and 'awareness' of the general populace. Collectively this is referred to as e-health 'training'. If implemented in a coordinated and structured manner, such an approach would stimulate e-health growth and application globally. It would generate demand (awareness), allow that demand to be filled (teaching) and guided (instruction), with the focus on technologically appropriate and needs-based solutions (education). The Education Working Group intends to develop outlines of recommended instructional and informational content for training at each level. Here the four levels are highlighted and the terms, hierarchy, and descriptions of the Education Working Group's proposed approach to its Conceptual Framework for e-Health Training, are formalised.
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Applying change management metaphors to a national e-Health strategy.
Stud Health Technol Inform
PUBLISHED: 11-04-2014
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Recent attempts at a collective understanding of how to develop an e-Health strategy have addressed the individual organisation, collection of organisations, and national levels. At the national level the World Health Organisation's National eHealth Strategy Toolkit serves as an exemplar that consolidates knowledge in this area, guides practical implementations, and identifies areas for future research. A key implication of this toolkit is the considerable number of organisational changes required to successfully apply their ideas in practice. This study looks critically at the confluence of change management and e-Health strategy using metaphors that underpin established models of change management. Several of Morgan's organisational metaphors are presented (highlighting varied beliefs and assumptions regarding how change is enacted, who is responsible for the change, and guiding principles for that change), and used to provide a framework. Attention is then directed to several prominent models of change management that exemplify one or more of these metaphors, and these theoretical insights are applied to evaluate the World Health Organisation's National eHealth Strategy Toolkit. The paper presents areas for consideration when using the WHO/ITU toolkit, and suggestions on how to improve its use in practice. The goal is to seek insight regarding the optimal sequence of steps needed to ensure successful implementation and integration of e-health into health systems using change management models. No single model, toolkit, or guideline will offer all the needed answers, but clarity around the underlying metaphors informing the change management models being used provides valuable insight so potentially challenging areas can be avoided or mitigated.
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Gland ring morphometry for prostate cancer prognosis in multispectral immunofluorescence images.
Med Image Comput Comput Assist Interv
PUBLISHED: 10-22-2014
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Morphometric features characterizing the fusion and fragmentation of the glandular architecture of advanced prostate cancer have not previously been based upon the automated segmentation of discrete gland rings, due in part to the difficulty of extracting these structures from the H&E stained tissues. We present a novel approach for segmenting gland rings in multi-spectral immunofluorescence (IF) images and demonstrate the utility of the resultant features in predicting cancer recurrence in a cohort of 1956 images of prostate biopsies and prostatectomies from 679 patients. The proposed approach is evaluated for prediction of actual clinical outcomes of interest to physicians in comparison with previously published gland-unit features, yielding a concordance index (CI) of 0.67. This compares favorably to the CI of 0.66 obtained using a semi-automated segmentation of the corresponding H&E images from the same patients. This work presents the first algorithms for segmentation of gland rings lacking a central lumen, and for separation of touching epithelial units, and introduces new gland adjacency features for predicting prostate cancer clinical progression across both biopsy and prostatectomy images.
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Defining the "sweet spot" for administered luteinizing hormone-to-follicle-stimulating hormone gonadotropin ratios during ovarian stimulation to protect against a clinically significant late follicular increase in progesterone: an analysis of 10,280 first in vitro ferti
Fertil. Steril.
PUBLISHED: 08-20-2014
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To determine whether different ratios of administered LH-to-FSH influence the risk of clinically relevant late follicular P elevations and whether there is an optimal range of LH-to-FSH to mitigate this risk.
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Trophectoderm DNA fingerprinting by quantitative real-time PCR successfully distinguishes sibling human embryos.
J. Assist. Reprod. Genet.
PUBLISHED: 08-17-2014
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To validate a novel and more practical system for trophectoderm DNA fingerprinting which reliably distinguishes sibling embryos from each other.
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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Eur. J. Hum. Genet.
PUBLISHED: 08-13-2014
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De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear.European Journal of Human Genetics advance online publication, 13 August 2014; doi:10.1038/ejhg.2014.162.
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Embryonic aneuploidy: overcoming molecular genetics challenges improves outcomes and changes practice patterns.
Trends Mol Med
PUBLISHED: 08-08-2014
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Since its inception, in vitro fertilization (IVF) has pursued molecular technology to improve patient outcomes, leading to enhanced methods of embryo selection. Comprehensive chromosomal screening (CCS) is a powerful tool that decreases maternal and neonatal morbidity due to multiple gestations by allowing the transfer of fewer embryos while maintaining success rates. To optimize this genetic test, physiological principles limiting the timing and type of cells to be removed had to be realized. Molecular barriers involved in genome amplification and ensuring the accuracy and validity of the CCS platform required a multistep approach to ensure that this technology was not used prematurely. Only after ensuring that the potential for harm was minimized and benefit maximized could clinicians use this technology to improve patient care.
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Synovial fluid differential cell count in wear debris synovitis after total knee replacement.
Knee
PUBLISHED: 07-28-2014
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Determining the cause of synovitis following total knee arthroplasty (TKA) can be challenging. The differential diagnoses include infection, hemarthrosis, instability, crystalline disease, wear debris or idiopathic causes. Wear particle synovitis can mimic periprosthetic infection with symptoms of pain and effusion. Radiographs and physical exam are often inconclusive in differentiating the two. Synovial fluid analysis is routinely used in evaluating periprosthetic infections. We examined the association between synovial white blood cell count and differentials, and polyethylene wear and osteolysis, to see if fluid analysis can aid in establishing the diagnosis of wear particle synovitis.
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Vitamin D levels do not affect IVF outcomes following the transfer of euploid blastocysts.
Am. J. Obstet. Gynecol.
PUBLISHED: 07-15-2014
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We sought to characterize the relationship between serum 25-hydroxy vitamin D (25-OH D) levels and implantation and clinical pregnancy rates in women who undergo a euploid blastocyst embryo transfer.
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Cruciate-retaining TKA Is an Option in Patients With Prior Patellectomy.
Clin. Orthop. Relat. Res.
PUBLISHED: 07-09-2014
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The recommendation for using posterior-stabilized (PS) implants in patellectomy patients undergoing total knee arthroplasty (TKA) is based on older case series with heterogeneous patient populations. The use of cruciate-retaining implants in these patients has not been evaluated with more contemporary implant designs.
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Comparative mechanistic studies of brilacidin, daptomycin, and the antimicrobial peptide LL16.
Antimicrob. Agents Chemother.
PUBLISHED: 06-16-2014
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Brilacidin (PMX30063) has shown potent bactericidal activity against drug-resistant and -susceptible strains of multiple Gram-negative and Gram-positive pathogens. In this study, we demonstrate that brilacidin causes membrane depolarization in the Gram-positive bacterium Staphylococcus aureus, to an extent comparable to that caused by the lipopeptidic drug daptomycin. Transcriptional profiling of Staphylococcus aureus by deep sequencing shows that the global response to brilacidin treatment is well correlated to those of treatment with daptomycin and the cationic antimicrobial peptide LL37 and mostly indicates abrogation of cell wall and membrane functions. Furthermore, the upregulation of various chaperones and proteases by brilacidin and daptomycin indicates that cytoplasmic protein misfolding stress may be a contributor to the mechanism of action of these drugs. These stress responses were orchestrated mainly by three two-component systems, GraSR, VraSR, and NsaSR, which have been implicated in virulence and drug resistance against other clinically available antibiotics.
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Towards indicated prevention of psychosis: using probabilistic assessments of transition risk in psychosis prodrome.
J Neural Transm
PUBLISHED: 05-29-2014
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The concept of indicated prevention has proliferated in psychiatry, and accumulating evidence suggests that it may indeed be possible to prevent or delay the onset of a first episode of psychosis though adequate interventions in individuals deemed at clinical high risk (CHR) for such an event. One challenge undermining these efforts is the relatively poor predictive accuracy of clinical assessments used in practice for CHR individuals, often leading to diagnostic and therapeutic uncertainty reflected in clinical guidelines promoting a 'watch and wait' approach to CHR patients. Using data from published studies, and employing predictive models based on the odds-ratio form of Bayes' rule, we simulated scenarios where clinical interview, neurocognitive testing, structural magnetic resonance imaging and electrophysiology are part of the initial assessment process of a CHR individual (extended diagnostic approach). Our findings indicate that for most at-risk patients, at least three of these assessments are necessary to arrive at a clinically meaningful differentiation into high- intermediate-, and low-risk groups. In particular, patients with equivocal results in the initial assessments require additional diagnostic testing to produce an accurate risk profile forming part of the comprehensive initial assessment. The findings may inform future research into reliable identification and personalized therapeutic targeting of CHR patients, to prevent transition to full-blown psychosis.
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Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies.
Eur. J. Hum. Genet.
PUBLISHED: 05-12-2014
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Comprehensive chromosome screening (CCS) methods are being extensively used to select chromosomally normal embryos in human assisted reproduction. Some concerns related to the stage of analysis and which aneuploidy screening method to use still remain. In this study, the reliability of blastocyst-stage aneuploidy screening and the diagnostic performance of the two mostly used CCS methods (quantitative real-time PCR (qPCR) and array comparative genome hybridization (aCGH)) has been assessed. aCGH aneuploid blastocysts were rebiopsied, blinded, and evaluated by qPCR. Discordant cases were subsequently rebiopsied, blinded, and evaluated by single-nucleotide polymorphism (SNP) array-based CCS. Although 81.7% of embryos showed the same diagnosis when comparing aCGH and qPCR-based CCS, 18.3% (22/120) of embryos gave a discordant result for at least one chromosome. SNP array reanalysis showed that a discordance was reported in ten blastocysts for aCGH, mostly due to false positives, and in four cases for qPCR. The discordant aneuploidy call rate per chromosome was significantly higher for aCGH (5.7%) compared with qPCR (0.6%; P<0.01). To corroborate these findings, 39 embryos were simultaneously biopsied for aCGH and qPCR during blastocyst-stage aneuploidy screening cycles. 35 matched including all 21 euploid embryos. Blinded SNP analysis on rebiopsies of the four embryos matched qPCR. These findings demonstrate the high reliability of diagnosis performed at the blastocyst stage with the use of different CCS methods. However, the application of aCGH can be expected to result in a higher aneuploidy rate than other contemporary methods of CCS.European Journal of Human Genetics advance online publication, 29 October 2014; doi:10.1038/ejhg.2014.222.
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Does Increased Topside Conformity in Modular Total Knee Arthroplasty Lead to Increased Backside Wear?
Clin. Orthop. Relat. Res.
PUBLISHED: 04-30-2014
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Modular metal-backed tibia components allow surgeons intraoperative flexibility. Although it is known that modular tibia components introduce the possibility for backside wear resulting from relative motion between the polyethylene insert and the tibial baseplate, it is not known to what degree variability in the conformity of the tibial polyethylene liner itself might contribute to backside wear.
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Expertise in a resident-centered colposcopy clinic: are you smarter than a third year?
Obstet Gynecol
PUBLISHED: 04-29-2014
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Colposcopic evaluation is integral to proper patient care and duty-hour limitations are feared to hinder learning this art. We aim to observe adequate resident training in colposcopy by assessing whether clinical findings in a resident-centered colposcopy clinic are equivalent to the expected national trends for health care practitioners who have already completed training.
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Activity of potent and selective host defense peptide mimetics in mouse models of oral candidiasis.
Antimicrob. Agents Chemother.
PUBLISHED: 04-21-2014
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There is a strong need for new broadly active antifungal agents for the treatment of oral candidiasis that not only are active against many species of Candida, including drug-resistant strains, but also evade microbial countermeasures which may lead to resistance. Host defense peptides (HDPs) can provide a foundation for the development of such agents. Toward this end, we have developed fully synthetic, small-molecule, nonpeptide mimetics of the HDPs that improve safety and other pharmaceutical properties. Here we describe the identification of several HDP mimetics that are broadly active against C. albicans and other species of Candida, rapidly fungicidal, and active against yeast and hyphal cultures and that exhibit low cytotoxicity for mammalian cells. Importantly, specificity for Candida over commensal bacteria was also evident, thereby minimizing potential damage to the endogenous microbiome which otherwise could favor fungal overgrowth. Three compounds were tested as topical agents in two different mouse models of oral candidiasis and were found to be highly active. Following single-dose administrations, total Candida burdens in tongues of infected animals were reduced up to three logs. These studies highlight the potential of HDP mimetics as a new tool in the antifungal arsenal for the treatment of oral candidiasis.
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Effect of a Home Intervention Program on Pediatric Asthma in an Environmental Justice Community.
Health Promot Pract
PUBLISHED: 04-16-2014
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Asthma prevalence rates are at an all-time high in the United States with over 25 million persons diagnosed with asthma. African Americans and other minorities have higher asthma prevalence and higher exposure to environmental factors that worsen asthma as compared to Caucasians. This article describes the evaluation of an inner-city home-based asthma education and environmental remediation program that addressed both indoor and outdoor triggers through collaboration between a health system and local environmental justice organization. The program enrolled 132 children older than 2.5 years and centers on a 4- to 6-week intervention with peer counselors using the U.S. Environmental Protection Agency Asthma Home Environment Checklist and the You Can Control Asthma curriculum. Families receive asthma-friendly environmental home kits. Peer counselors reinforce key asthma management messages and facilitate the completion of Asthma Action Plans. The environmental justice community partner organized block cleanups to reduce outdoor triggers. The evaluation used a pretest-posttest design to assess changes in client behavior and asthma symptoms. Data were collected at baseline and during a 6-month postintervention period. Participants saw enhanced conditions on asthma severity and control. The improvement was greatest for children whose asthma was considered "severe" based on the validated Asthma Control Test. Other positive results include the following: greater completion of Asthma Action Plans, significant reduction in the number of emergency room visits (p = .006), and substantial decreases in school absenteeism (p = .008) and use of rescue medications (p = .049). The evaluation suggests that the program was effective in improving asthma self-management in a high-risk population living within an environmental justice community.
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Electric Morcellation-related Reoperations After Laparoscopic Myomectomy and Nonmyomectomy Procedures.
J Minim Invasive Gynecol
PUBLISHED: 03-01-2014
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To identify, collate, and summarize the most common causes and pathologies of electric morcellation-related reoperations after laparoscopic myomectomy and nonmyomectomy procedures.
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Outpatient follow-up versus 30-day readmission among general and vascular surgery patients: a case for redesigning transitional care.
Surgery
PUBLISHED: 02-25-2014
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The association between early outpatient follow-up and 30-day readmission has not been evaluated in any surgical population. Our study characterizes the relationship between outpatient follow-up and early readmissions among surgical patients.
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Diphenylacetylene-linked peptide strands induce bidirectional ?-sheet formation.
Angew. Chem. Int. Ed. Engl.
PUBLISHED: 02-19-2014
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In the search for synthetic mimics of protein secondary structures relevant to the mediation of protein-protein interactions, we have synthesized a series of tetrasubstituted diphenylacetylenes that display ?-sheet structures in two directions. Extensive X-ray crystallographic and NMR solution phase studies are consistent with these proteomimetics adopting sheet structures, displaying both hydrophobic and hydrophilic amino acid side chains.
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Total knee arthroplasty in patients with juvenile idiopathic arthritis.
Clin. Orthop. Relat. Res.
PUBLISHED: 02-19-2014
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Total knee arthroplasty (TKA) for juvenile idiopathic arthritis is rare but is nonetheless indicated for many patients with this disease. Few reports exist on the results of TKA in patients with juvenile idiopathic arthritis.
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De novo design of self-assembling foldamers that inhibit heparin-protein interactions.
ACS Chem. Biol.
PUBLISHED: 02-11-2014
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A series of self-associating foldamers have been designed as heparin reversal agents, as antidotes to prevent bleeding due to this potent antithrombotic agent. The foldamers have a repeating sequence of Lys-Sal, in which Sal is 5-amino-2-methoxy-benzoic acid. These foldamers are designed to self-associate along one face of an extended chain in a ?-sheet-like interaction. The methoxy groups were included to form intramolecular hydrogen bonds that preclude the formation of very large amyloid-like aggregates, while the positively charged Lys side chains were introduced to interact electrostatically with the highly anionic heparin polymer. The prototype compound (Lys-Sal)4 carboxamide weakly associates in aqueous solution at physiological salt concentration in a monomer-dimer-hexamer equilibrium. The association is greatly enhanced at either high ionic strength or in the presence of a heparin derivative, which is bound tightly. Variants of this foldamer are active in an antithrombin III-factor Xa assay, showing their potential as heparin reversal agents.
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All-polyethylene tibial components in octogenarians: survivorship, performance, and cost.
Am J. Orthop.
PUBLISHED: 02-04-2014
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The ideal recipient for an all-polyethylene tibial (APT) component continues to be controversial. Several recent randomized clinical studies have demonstrated clinical efficacy of APT when compared to metal backed tibial (MBT) components in relation to survival and clinical outcomes measures, particularly in an elderly population. In this retrospective series, 166 knees in 130 patients (age > 80 years) received an APT component. Average follow-up for the living and deceased was 5.7 and 5.2 years, respectively. There were no APT failures at the time of most recent follow-up. Knee Society function score improved from 30 to 48. Almost all respondents reported either good or excellent satisfaction with their outcome. The average cost savings of using APT instead of MBT component can be substantial. We believe octogenarian patients represent the ideal population for an APT component, that functional outcomes and satisfaction levels will be acceptable to those patients, and that the component will outlast the remaining life of the patient while also potentially providing a substantial cost savings, compared with the cost of MBT components.
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Embryology training for Reproductive Endocrine fellows in the clinical human embryology laboratory.
J. Assist. Reprod. Genet.
PUBLISHED: 02-03-2014
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To determine if comprehensive embryology training for clinical Reproductive Endocrinology fellows could be completed to a level of proficiency equivalent to that of experienced embryologists.
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A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Am. J. Med. Genet. A
PUBLISHED: 01-30-2014
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We report on a family with five fetuses conceived to first cousin parents presenting with abnormal ultrasound findings including contractures and microcephaly. Cerebellar hypoplasia and ventriculomegaly were also present in two and fetal edema developed in the one fetus that survived beyond 24 weeks of gestation. Linkage studies of 15 members of the family, including four affecteds, were undertaken followed by exome sequencing of one affected individual and their parents. Analysis of exome data was restricted to the 9.3?Mb largest shared region of homozygosity identified by linkage; a single novel homozygous mutation in the proband that was heterozygous in the parents (ERCC5 c.2766dupA, p.Leu923ThrfsX7) was identified. This segregated with disease. ERCC5 is a component of the nucleotide excision repair machinery and biallelic mutations in the gene have previously been associated with xeroderma pigmentosum (group G), Cockayne syndrome and the more severe cerebrooculofacioskeletal syndrome. The phenotype in the family we report on is consistent with a severe manifestation of cerebrooculofacioskeletal syndrome. Our data broaden the reported clinical spectrum of ERCC5 mutations and provide further evidence of genotype-phenotype correlation with truncating mutations being associated with severe phenotypes. They also demonstrate the molecular diagnostic power of a combined approach of linkage studies and exome sequencing in families with rare, genetically heterogeneous disorders and a well described pedigree.
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Examining the temperature of embryo culture in in vitro fertilization: a randomized controlled trial comparing traditional core temperature (37°C) to a more physiologic, cooler temperature (36°C).
Fertil. Steril.
PUBLISHED: 01-25-2014
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To determine whether culture at a more physiologically cooler temperature, as suggested by limited human and animal data, would improve blastulation and pregnancy rates in human clinical IVF.
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A chemoresponse assay for prediction of platinum resistance in primary ovarian cancer.
Am. J. Obstet. Gynecol.
PUBLISHED: 01-23-2014
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Recurrence following primary platinum-based chemotherapy remains a challenge in the treatment of patients with advanced-stage epithelial ovarian cancer. This study examines whether a chemoresponse assay can identify patients who are platinum-resistant prior to treatment.
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Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.
J. Assist. Reprod. Genet.
PUBLISHED: 01-17-2014
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A recent experiment indicated that a loss of function mutation in the murine Katnal1 gene resulted in male factor infertility due to premature exfoliation of spermatids. This study investigated the relevance of this gene to infertility in humans.
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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Am. J. Hum. Genet.
PUBLISHED: 01-06-2014
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Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. Sanger sequencing revealed PIEZO2 mutations in five of seven additional families studied (for a total of 10/12 [83%] individuals), and nine families had an identical c.8057G>A (p.Arg2686His) mutation. The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (MWS). Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition.
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Twenty-four new species of Aleiodes Wesmael from the eastern Andes of Ecuador with associated biological information (Hymenoptera, Braconidae, Rogadinae).
Zookeys
PUBLISHED: 01-01-2014
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Aleiodes Wesmael is the most diverse rogadine genus worldwide, with specialized koinobiont endoparasitic development in Lepidoptera caterpillars resulting in mummification of the host remains. This paper focuses on describing new Aleiodes species from the Yanayacu Biological Station, with special interest in those with biological information. We describe 24 new species (Aleiodes albidactyl sp. n., Aleiodes albigena sp. n., Aleiodes albiviria sp. n., Aleiodes bimaculatus sp. n., Aleiodes cacuangoi sp. n., Aleiodes colberti sp. n., Aleiodes delicatus sp. n., Aleiodes dyeri sp. n., Aleiodes elleni sp. n., Aleiodes falloni sp. n., Aleiodes frosti sp. n., Aleiodes kingmani sp. n., Aleiodes longikeros sp. n., Aleiodes luteosicarius sp. n., Aleiodes marilynae sp. n., Aleiodes mirandae sp. n., Aleiodes napo sp. n., Aleiodes nubicola sp. n., Aleiodes onyx sp. n., Aleiodes shakirae sp. n., Aleiodes stewarti sp. n., Aleiodes townsendi sp. n., Aleiodes tzantza sp. n., and Aleiodes yanayacu sp. n.) from Napo Province in Ecuador, 16 of which were reared from host caterpillars. With these results 89 species of Neotropical Aleiodes are now known, with 41 of them having host records. The most commonly reared species were in the circumscriptus/gastritor species-group, and mostly associated with Geometridae hosts (six of ten species). Three species of seriatus species-group, in contrast, were each reared from a different family. One of these species (i.e. A. frosti sp. n.), reared from Notodontidae, cuts a posterior radial opening in the mummy for emergence, a unique behavior in Aleiodes, recorded here for the first time. A. luteosicarius sp. n. is the first described species from Ecuador in the pallidator species-group. Differing from previously described pallidator species, which attack only Lymantriinae larvae, A. luteosicarius sp. n. attacks several species of Arctiinae larvae, being both subfamilies within Erebidae with densely setose caterpillars. We also describe new species of the gressitti and pulchripes species-groups.
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Retreatment with bevacizumab in patients with gynecologic malignancy is associated with clinical response and does not increase morbidity.
Onco Targets Ther
PUBLISHED: 01-01-2014
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Bevacizumab (Bev) is associated with improved progression-free survival in advanced epithelial ovarian cancer. The use of Bev in patients with gynecologic malignancy is increasing; however, little is known about cumulative toxicity and response in patients retreated with Bev. Our goal was to determine cumulative side effects and response in patients retreated with Bev.
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res.
PUBLISHED: 11-11-2013
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The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types, function, embryology, pathology and other domains. This allows interoperability with several resources, especially those containing phenotype information on model organisms such as mouse and zebrafish. Here we describe the updated HPO database, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO. Various meta-attributes such as frequency, references and negations are associated with each annotation. Several large-scale projects worldwide utilize the HPO for describing phenotype information in their datasets. We have therefore generated equivalence mappings to other phenotype vocabularies such as LDDB, Orphanet, MedDRA, UMLS and phenoDB, allowing integration of existing datasets and interoperability with multiple biomedical resources. We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online.
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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Nat. Genet.
PUBLISHED: 10-23-2013
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Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism.
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Diagnosis and indications for treatment of unicompartmental arthritis.
Clin Sports Med
PUBLISHED: 10-17-2013
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Unicompartmental knee arthroplasty (UKA) is a reliable operation for isolated unicompartmental arthritis. A comprehensive understanding of the limitations of UKA is crucial for success in the young patient. Obesity may impact implant longevity; however, acceptable results can be achieved with precise component implantation and careful patient selection. UKA for degenerative medial compartment arthritis with attritional anterior cruciate ligament (ACL) rupture is generally contraindicated. However, concomitant ACL/UKA reconstruction is a dependable treatment for early posterior-medial compartment arthritis caused by an acute ACL rupture. Regardless of its limitations, the functional benefits and limited morbidity of UKA make it an appealing treatment option for unicompartmental disease.
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Could safety boards provide a valuable tool to enhance the safety of reproductive medicine?
Fertil. Steril.
PUBLISHED: 09-30-2013
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Medicine and aviation have a striking number of similarities. Both are led by highly-trained individuals performing complex tasks that are critical to outcomes. They also integrate the efforts of other professionals to assure that the flight, procedures, or processes are completed successfully. Also in common, is the potential for errors to have catastrophic and even life-threatening consequences. Both aviation and medicine have responded to this complex operating environment by building safety programs. Unfortunately, those in medicine have not been optimal in reducing significant adverse outcomes, including deaths. It has been suggested that given the parallels, that aviation safety programs might be adapted to clinical medicine. One such measure would the formation of a Clinical Safety Board (CSB) modeled after the National Transportation Safety Board (NTSB). Such a board would collect data across the nation and determine root causes of errors. They may then provide recommendations to professional societies and regulatory agencies for consideration for implementation. Such programs would be dependent on accurate and thorough reporting. Indemnification, similar to that enacted by the federal government for aviation, would be critical. In the end, a CSB should empower better patient care with reduced liability to the providers and programs.
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Impact of facility volume on therapy and survival for locally advanced cervical cancer.
Gynecol. Oncol.
PUBLISHED: 09-09-2013
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Chemosensitizing radiation with brachytherapy is standard of care for treatment of locally advanced cervical cancer, an increasingly rare disease. Treatment facility volume has been correlated with outcome in many diseases. Treatment outcome and likelihood of receiving standard therapy in locally advanced cervical cancer based on facility volume were examined using a large national cancer database.
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The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening.
Fertil. Steril.
PUBLISHED: 08-24-2013
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To determine the relationship between the age of the female partner and the prevalence and nature of human embryonic aneuploidy.
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Obstetrical and neonatal outcomes from the BEST Trial: single embryo transfer with aneuploidy screening improves outcomes after in vitro fertilization without compromising delivery rates.
Am. J. Obstet. Gynecol.
PUBLISHED: 08-21-2013
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We sought to determine whether performing elective single embryo transfer (eSET) after trophectoderm biopsy and rapid aneuploidy screening results in improved obstetrical and neonatal outcomes compared with transferring 2 untested embryos.
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Simultaneous Bilateral Knee Arthroplasty in Octogenarians: Can It Be Safe and Effective?
J Arthroplasty
PUBLISHED: 08-15-2013
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Simultaneous bilateral knee arthroplasty (SBTKA) in octogenarians is controversial. Our purpose was to review the outcomes of octogenarians undergoing SBTKA. All patients greater than 80years of age who underwent SBTKA by a single surgeon were retrospectively evaluated. Fifty-six patients with an average age of 82.5years were identified. Twelve postoperative complications occurred. Three were serious; two non-fatal PEs and one wound debridement. Minor complications included UTI, decubitus ulcer, DVT, confusion, transfusion reaction and ileus. Average postoperative survival was 7.4years. No deaths occurred within 30days postoperatively. Simultaneous bilateral total knee arthroplasty can be a safe and effective option for octogenarians. Complications and mortality are not higher for SBTKA compared to UTKA in this population.
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Overexpression of vascular endothelial growth factor in the germinal matrix induces neurovascular proteases and intraventricular hemorrhage.
Sci Transl Med
PUBLISHED: 07-12-2013
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Intracranial hemorrhage in preterm neonates may result in neonatal mortality and functional disabilities, but its pathogenic mechanisms are poorly defined and better therapies are needed. We used a tetracycline-regulated transgenic system to test whether the induction of vascular endothelial growth factor (VEGF) in the germinal matrix leads to intracranial hemorrhage. This genetic strategy initially induced a dense network of loosely adjoined endothelial cells and pericytes near lateral ventricles, similar to the immature vascular rete in human fetal brains. Yet, this rich vascular network transformed into low-vasculature patches correlated with hemorrhage and caspase-3 activation near birth. Gene expression and biochemical analyses suggested that downstream mediators of VEGF in this network include transcriptional factors ETS1 and HIF2? (hypoxia-inducible factor 2?), components of the PDGF? (platelet-derived growth factor ?) and TGF? (transforming growth factor-?) receptor signaling pathways, matrix metalloproteinase-9 (MMP-9), and cathepsins. Prenatal administration of glucocorticoids markedly reduced mortality and cerebral hemorrhage in mutant animals, as in human neonates. This protective effect was not due to blocking vasculogenesis, but was instead associated with inhibition of neurovascular proteases, notably MMP-9, cathepsin B, and caspase-3. Collectively, these results support a causative role of VEGF in perinatal cerebral hemorrhage and implicate its downstream proteases as potential therapeutic targets.
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Role of Amphiphilicity in the Design of Synthetic Mimics of Antimicrobial Peptides with Gram-negative Activity.
ACS Med Chem Lett
PUBLISHED: 07-02-2013
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Two new series of aryl SMAMPs (synthetic mimics of antimicrobial peptides) with facially amphiphilic (FA) and disrupted amphiphilic (DA) topologies were designed and synthesized to directly assess the role of amphiphilicity on their antimicrobial activity against gram-positive and gram-negative bacteria in closely related structures. The FA SMAMPs displayed broad spectrum antimicrobial activity against both gram-positive S. aureus and gram-negative E. coli, whereas the DA SMAMPs, which contained a polar amide bond in between the hydrophobic moieties, only exhibited activity towards S. aureus with increasing hydrophobicity. The integy moment (IW) was used to quantify the amphiphilicity of the SMAMPs and confirmed that it is critical for the design of SMAMPs with gram-negative activity.
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Uniparental disomy in the human blastocyst is exceedingly rare.
Fertil. Steril.
PUBLISHED: 05-30-2013
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To establish whether uniparental disomy (UPD) could represent an outcome of embryonic aneuploidy self-correction and its relevance to preimplantation genetic diagnosis, and to validate a method of UPD detection in limited quantities of cells and determine the frequency of UPD in a large sample size of human blastocysts.
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Selecting the optimal time to perform biopsy for preimplantation genetic testing.
Fertil. Steril.
PUBLISHED: 05-10-2013
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A consistent requirement for all preimplantation genetic testing is the need to obtain DNA from the oocyte or embryo. Currently this sample is attained through biopsy of one or both polar bodies, blastomere biopsy at the cleavage stage, or trophectoderm biopsy after blastulation. Selecting the optimal time for biopsy requires careful consideration. Polar body biopsy is less invasive and provides more time for analysis but fails to capture as many as one in three embryonic aneuploidies. Additionally, the inability to readily distinguish nondysjunction from premature separation of sister chromatids greatly limits the predictive value of the technique and may lead to an overdiagnosis of aneuploidy in as many as 45% of cases with first polar-body errors. Cleavage-stage biopsy provides adequate samples but is detrimental to the embryo. The adverse effect of blastomere biopsy may result in approximately two of every five reproductively competent embryos losing their ability to implant and sustain development. Trophectoderm biopsy does not adversely impact the embryos. However, for the majority of clinical programs without a genetics laboratory, vitrification would be necessary to allow time for the genetic analysis. Although this extends the time required for treatment, clinical outcomes are equivalent after transfer of euploid blasts during fresh IVF and cryopreserved embryo transfer cycles, so that excellent outcomes are maintained. At present the blastocyst stage is the optimal time to perform biopsies for preimplantation genetic testing.
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In vivo packaging of triacylglycerols enhances Arabidopsis leaf biomass and energy density.
Plant Physiol.
PUBLISHED: 04-24-2013
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Our dependency on reduced carbon for energy has led to a rapid increase in the search for sustainable alternatives and a call to focus on energy densification and increasing biomass yields. In this study, we generated a uniquely stabilized plant structural protein (cysteine [Cys]-oleosin) that encapsulates triacylglycerol (TAG). When coexpressed with diacylglycerol O-acyltransferase (DGAT1) in Arabidopsis (Arabidopsis thaliana), we observed a 24% increase in the carbon dioxide (CO2) assimilation rate per unit of leaf area and a 50% increase in leaf biomass as well as approximately 2-, 3-, and 5-fold increases in the fatty acid content of the mature leaves, senescing leaves, and roots, respectively. We propose that the coexpression led to the formation of enduring lipid droplets that prevented the futile cycle of TAG biosynthesis/lipolysis and instead created a sustained demand for de novo lipid biosynthesis, which in turn elevated CO2 recycling in the chloroplast. Fatty acid profile analysis indicated that the formation of TAG involved acyl cycling in Arabidopsis leaves and roots. We also demonstrate that the combination of Cys-oleosin and DGAT1 resulted in the highest accumulation of fatty acids in the model single-cell eukaryote, Saccharomyces cerevisiae. Our results support the notion that the prevention of lipolysis is vital to enabling TAG accumulation in vegetative tissues and confirm the earlier speculation that elevating fatty acid biosynthesis in the leaf would lead to an increase in CO2 assimilation. The Cys-oleosins have applications in biofuels, animal feed, and human nutrition as well as in providing a tool for investigating fatty acid biosynthesis and catabolism.
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Principles and framework for eHealth strategy development.
J. Med. Internet Res.
PUBLISHED: 04-19-2013
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Significant investment in eHealth solutions is being made in nearly every country of the world. How do we know that these investments and the foregone opportunity costs are the correct ones? Absent, poor, or vague eHealth strategy is a significant barrier to effective investment in, and implementation of, sustainable eHealth solutions and establishment of an eHealth favorable policy environment. Strategy is the driving force, the first essential ingredient, that can place countries in charge of their own eHealth destiny and inform them of the policy necessary to achieve it. In the last 2 years, there has been renewed interest in eHealth strategy from the World Health Organization (WHO), International Telecommunications Union (ITU), Pan American Health Organization (PAHO), the African Union, and the Commonwealth; yet overall, the literature lacks clear guidance to inform countries why and how to develop their own complementary but locally specific eHealth strategy. To address this gap, this paper further develops an eHealth Strategy Development Framework, basing it upon a conceptual framework and relevant theories of strategy and complex system analysis available from the literature. We present here the rationale, theories, and final eHealth strategy development framework by which a systematic and methodical approach can be applied by institutions, subnational regions, and countries to create holistic, needs- and evidence-based, and defensible eHealth strategy and to ensure wise investment in eHealth.
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Effect of initial tibial resection thickness on outcomes of revision UKA.
Orthopedics
PUBLISHED: 04-18-2013
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The frequency of unicompartmental knee arthroplasty (UKA) procedures has increased rapidly over the past decade. Some conflicting evidence exists concerning UKA revision. Some studies have found UKA revisions to be comparable with primary total knee arthroplasty, whereas others have found that UKA revisions require a higher need for tibial stems and augments and have more complications and worse results. This study seeks to determine the effect of a conservative tibial resection in UKA on the ease of revision and its outcomes in a consecutive patient cohort.Thirty-five patients underwent 37 conversions of a medial UKA to a total knee arthroplasty. Clinical, functional, and radiological data were evaluated. At revision, a primary total knee arthroplasty implant was used in 24 (88.8%) patients who underwent a conservative tibial resection during their UKA compared with only 3 (30%) patients who underwent an aggressive tibial resection (P<.001). The odds ratio of needing an augment or stem was 26.8 (95% confidence interval, 3.71-194) when an aggressive resection was performed compared with a conservative resection during the UKA.The results indicate that revision of a medial UKA can be comparable with a primary TKA when a conservative tibial resection is performed at the time of the primary UKA. It is possible to preoperatively predict which patients might need the use of augmentation and stems during UKA revision. This data should guide surgeons to strive for the most conservative UKA tibial resection possible in patients undergoing medial UKA.
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Upper abdominal procedures in advanced stage ovarian or primary peritoneal carcinoma patients with minimal or no gross residual disease: an analysis of Gynecologic Oncology Group (GOG) 182.
Gynecol. Oncol.
PUBLISHED: 04-16-2013
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To examine the utility of upper abdominal procedures (UAPs) performed in a cohort of optimally cytoreduced patients with advanced stage epithelial ovarian cancer (EOC) or primary peritoneal cancer (PPC) and identify potential areas where aggressive surgery may impact survival.
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Incidental identification of balanced translocation carrier patients through comprehensive chromosome screening of IVF-derived blastocysts.
J. Assist. Reprod. Genet.
PUBLISHED: 03-18-2013
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To demonstrate that translocation carrier patients can be identified by analysis of chromosomes in preimplantation human embryos.
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Comprehensive chromosome screening alters traditional morphology-based embryo selection: a prospective study of 100 consecutive cycles of planned fresh euploid blastocyst transfer.
Fertil. Steril.
PUBLISHED: 02-26-2013
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To determine how often trophectoderm biopsy and rapid, real-time quantitative polymerase chain reaction (PCR)-based comprehensive chromosome screening (CCS) alters clinical management by resulting in the transfer of a different embryo than would have been chosen by traditional day 5 morphology-based criteria.
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Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial.
Fertil. Steril.
PUBLISHED: 02-21-2013
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To determine whether blastocyst biopsy and rapid quantitative real-time polymerase chain reaction (qPCR)-based comprehensive chromosome screening (CCS) improves in vitro fertilization (IVF) implantation and delivery rates.
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Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial.
Fertil. Steril.
PUBLISHED: 02-17-2013
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To determine if cleavage- or blastocyst-stage embryo biopsy affects reproductive competence.
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Deep brain stimulation as a treatment for neuropathic pain: a longitudinal study addressing neuropsychological outcomes.
J Pain
PUBLISHED: 01-11-2013
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Deep Brain Stimulation (DBS) of the periventricular/periaqueductal grey (PVG/PAG) area and sensory thalamus (ST) can reduce pain intensity in patients with neuropathic pain. However, little is known about its impact on quality of life, emotional well-being, and cognition. This study followed up 18 patients who had received DBS for neuropathic pain. Each participant had previously undergone psychometric evaluation of each of the above areas as part of a routine pre-surgical neuropsychological assessment. Commensurate measures were employed at a follow-up assessment at least 6 months post-surgery. DBS significantly improved mood, anxiety, and aspects of quality of life. Improvements correlated with reduced pain severity. However, the sample continued to show impairments in most areas when compared against normative data published on non-clinical samples. There was little change in general cognitive functioning, aside from deterioration in spatial working memory. However, improvements in pain severity were associated with less improvement (and even deterioration) on measures of executive cognitive functioning. Improvements in emotional well-being also correlated with changes in cognition. These results suggest that DBS of the PVG/PAG and/or ST improves quality of life and emotional well-being in sufferers, although there is some indication of executive dysfunction particularly amongst those reporting greatest pain alleviation.
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Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease.
Fertil. Steril.
PUBLISHED: 01-09-2013
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To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD); to evaluate semiconductor-based NGS for genetic analysis of human embryos.
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In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial.
Fertil. Steril.
PUBLISHED: 01-02-2013
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To determine whether performing comprehensive chromosome screening (CCS) and transferring a single euploid blastocyst can result in an ongoing pregnancy rate that is equivalent to transferring two untested blastocysts while reducing the risk of multiple gestation.
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Neuropsychological sequelae following pediatric stroke: a nonlinear model of age at lesion effects.
Child Neuropsychol
PUBLISHED: 12-06-2011
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The distribution and quality of brain recovery following pediatric arterial ischemic stroke remains controversial. The literature suggests that age at stroke may be an important modulator of neuropsychological outcome, with reports inferring either greater vulnerability or plasticity in the nascent brain. Our aim was to investigate neuropsychological outcomes following pediatric stroke in a clinical sample with reference to age at lesion, lesion laterality, elapsed time from stroke to assessment, and persistent neurological sequelae.
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Anion mediated activation of guanidine rich small molecules.
Org. Biomol. Chem.
PUBLISHED: 10-24-2011
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Cell penetrating peptides (CPPs) and their synthetic analogs are of widespread interest. Here we report that guanidine rich small molecules can be potential membrane transporters in the presence of hydrophobic counteranion activators. To our knowledge, this is the first example of small molecules that mimic the anion-activated transport function of CPP.
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Polar body morphology is not predictive of its cell division origin.
J. Assist. Reprod. Genet.
PUBLISHED: 09-30-2011
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This study sought to determine whether morphology of simultaneously biopsied polar bodies is predictive of their cell division origin.
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Radical hysterectomy for early stage cervical cancer: laparoscopy versus laparotomy.
JSLS
PUBLISHED: 09-10-2011
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Gynecologic oncologists have recently begun using laparoscopic techniques to treat early stage cervical cancer. We evaluated a single institutions experience of laparoscopic radical hysterectomy and staging compared with laparotomy.
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Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Am. J. Hum. Genet.
PUBLISHED: 09-07-2011
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Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in KIF22 as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found Kif22 to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated.
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Antibacterial mechanism of action of arylamide foldamers.
Antimicrob. Agents Chemother.
PUBLISHED: 08-15-2011
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Small arylamide foldamers designed to mimic the amphiphilic nature of antimicrobial peptides (AMPs) have shown potent bactericidal activity against both Gram-negative and Gram-positive strains without many of the drawbacks of natural AMPs. These foldamers were shown to cause large changes in the permeability of the outer membrane of Escherichia coli. They cause more limited permeabilization of the inner membrane which reaches critical levels corresponding with the time required to bring about bacterial cell death. Transcriptional profiling of E. coli treated with sublethal concentrations of the arylamides showed induction of genes related to membrane and oxidative stresses, with some overlap with the effects observed for polymyxin B. Protein secretion into the periplasm and the outer membrane is also compromised, possibly contributing to the lethality of the arylamide compounds. The induction of membrane stress response regulons such as rcs coupled with morphological changes at the membrane observed by electron microscopy suggests that the activity of the arylamides at the membrane represents a significant contribution to their mechanism of action.
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Should stage IIIC ovarian cancer be further stratified by intraperitoneal vs. retroperitoneal only disease?: a Gynecologic Oncology Group study.
Gynecol. Oncol.
PUBLISHED: 08-01-2011
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To examine whether clinical outcomes varied with intraperitoneal (IP) and/or retroperitoneal (RP) involvement in stage IIIC epithelial ovarian cancer (EOC) patients with microscopic residual disease after cytoreduction.
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Possible use of CA-125 level normalization after the third chemotherapy cycle in deciding on chemotherapy regimen in patients with epithelial ovarian cancer: brief report.
Int. J. Gynecol. Cancer
PUBLISHED: 07-28-2011
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Cancer antigen (CA)-125 is a biomarker widely used in the monitoring of response to chemotherapy in patients with epithelial ovarian cancer (EOC). We hypothesize that normalization of the CA-125 after the third cycle of chemotherapy is an independent prognostic indicator of prolonged progression-free survival (PFS) and overall survival (OS).
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Fertility after age 45: From natural conception to Assisted Reproductive Technology and beyond.
Maturitas
PUBLISHED: 07-06-2011
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The introduction of in vitro fertilization (IVF) in 1978 - an accomplishment awarded with the 2010 Nobel Prize in Physiology or Medicine - has revolutionized the lives of millions of couples previously unable to conceive. Though initially applied primarily to young women with blocked Fallopian tubes, over the past three decades IVF has been increasingly used to combat age-related infertility. It has become clear that the decline in fertility with increasing female age is largely due to a rapid decrease in oocyte (egg) quantity and quality, with a higher proportion of oocytes displaying genetic abnormalities. Despite significant improvements in medical stimulation and laboratory culturing of embryos, IVF success once women reach the age of 45 is exceedingly rare. It has been well established through elegant clinical studies that, unlike the ovary, the reproductive capacity of the uterus does not diminish with age, even into the late 40s and 50s. With the use of oocytes from younger donors, women who are menopausal can attain very high rates of conception. The increased obstetrical risks in this population, which has a higher risk of underlying medical co-morbidities, must be considered prior to attempts at assisted conception, often in consultation with a multidisciplinary team of physicians. Finally, attempts to reverse the age-related decline in oocyte quality through micro-manipulation of the nucleus and cytoplasm have yielded disappointing results and are fraught with ethical concerns.
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Glycogen synthase kinase-3 in the etiology and treatment of mood disorders.
Front Mol Neurosci
PUBLISHED: 06-19-2011
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The mood disorders major depressive disorder and bipolar disorder are prevalent, are inadequately treated, and little is known about their etiologies. A better understanding of the causes of mood disorders would benefit from improved animal models of mood disorders, which now rely on behavioral measurements. This review considers the limitations in relating measures of rodent behaviors to mood disorders, and the evidence from behavioral assessments indicating that glycogen synthase kinase-3 (GSK3) dysregulation promotes mood disorders and is a potential target for treating mood disorders. The classical mood stabilizer lithium was identified by studying animal behaviors and later was discovered to be an inhibitor of GSK3. Several mood-relevant behavioral effects of lithium in rodents have been identified, and most have now been shown to be due to its inhibition of GSK3. An extensive variety of pharmacological and molecular approaches for manipulating GSK3 are discussed, the results of which strongly support the proposal that inhibition of GSK3 reduces both depression-like and manic-like behaviors. Studies in human postmortem brain and peripheral cells also have identified correlations between alterations in GSK3 and mood disorders. Evidence is reviewed that depression may be associated with impaired inhibitory control of GSK3, and mania by hyper-stimulation of GSK3. Taken together, these studies provide substantial support for the hypothesis that inhibition of GSK3 activity is therapeutic for mood disorders. Future research should identify the causes of dysregulated GSK3 in mood disorders and the actions of GSK3 that contribute to these diseases.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

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We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

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In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.