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Find video protocols related to scientific articles indexed in Pubmed.
Modified free radial forearm fascia flap reconstruction of lower extremity and foot wounds: optimal contour and minimal donor-site morbidity.
J Reconstr Microsurg
PUBLISHED: 09-03-2014
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Free tissue transfer is commonly required for reconstruction of distal third lower extremity injuries. Injuries involving the dorsal surface of the foot require thin pliable flaps. Musculocutaneous flaps are often too bulky to accommodate shoewear. Fasciocutaneous flaps, while an improvement, need secondary contouring procedures. The modified radial forearm fascial flap (MRFFF) may offer an alternative.
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Salvage of a costochondral graft for microtia after postoperative infection.
Ann Plast Surg
PUBLISHED: 08-19-2014
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Costochondral grafts have been the gold standard for ear reconstruction in cases of microtia repair for decades. Microtia repair has been traditionally associated with a low complication rate, yet little exists in the literature regarding the management of complications when they do occur. Postoperative infections of costochondral grafts have traditionally resulted in complete graft loss, necessitating additional surgery or leaving the patient with continued physical disfigurement and the accompanying psychological and emotional distress. The authors wish to present a case report demonstrating the treatment of a fulminant postoperative infection of a costochondral graft and its cutaneous pocket in a 16-year-old male patient with microtia. In this report, we discuss the successful treatment of the infection and 5 years of follow-up demonstrating the complete salvage of the costochondral construct. This is the first case report on the successful treatment and salvage of an infected costochondral graft in microtia repair.
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Targeting Burn Prevention in Ukraine: Evaluation of Base Knowledge in Burn Prevention and First Aid Treatment.
J Burn Care Res
PUBLISHED: 07-24-2014
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Burn prevention has been identified by the World Health Organization (WHO) as a topic in need of further investigation and education throughout the world with an increased need in low income countries. It has been noted that implementing educational programs for prevention in high income countries has aided in lowering the rate of burn injuries. The purpose of this study is to evaluate the current education level of knowledge of prevention and first aid treatment of scald burns. A prevention campaign will target these educational needs as a part of an outreach program to improve burn care in Ukraine. The research team evaluated the current health structure in Ukraine and how it could benefit from the increased knowledge of burn prevention and first aid. A test was designed to assess the baseline level of knowledge with regard to first aid and scald prevention in parents, pregnant woman, and healthcare and daycare providers. A total of 14,456 tests were sent to pediatric clinics, obstetrician clinics, and daycare facilities to test respondents. A total of 6,120 completed tests were returned. Doctors presented with the highest level of knowledge averaging 77.0% on prevention and 67.5% on first aid while daycare workers presented the largest gap in knowledge at 65.0% in prevention and 54.3% in first aid. Interest in further educational materials was reported by 92% of respondents. The results of this study clearly show a lack of knowledge in first aid and prevention of scald burn injury in all the populations tested.
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Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia.
Am. J. Med. Genet. A
PUBLISHED: 05-22-2014
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Circulating total ghrelin levels are elevated in older children and adults with Prader-Willi syndrome (PWS). However, the presence or absence of hyperghrelinemia in young children with PWS remains controversial. We hypothesized that a more robust way to analyze appetite-regulating hormones in PWS would be by nutritional phases rather than age alone. Our objectives were to compare total serum ghrelin levels in children with PWS by nutritional phase as well as to compare total ghrelin levels in PWS (5 weeks to 21 years of age) to normal weight controls and individuals with early-onset morbid obesity (EMO) without PWS. Fasting serum total ghrelin levels were measured in 60 subjects with PWS, 39 subjects with EMO of unknown etiology, and in 95 normal non-obese sibling controls of PWS or EMO subjects (SibC) in this 12 year longitudinal study. Within PWS, total ghrelin levels were significantly (P?
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Global Health: Burn Outreach Program.
J Burn Care Res
PUBLISHED: 05-15-2014
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The objective of this article is to outline the elements of an international burn care outreach program in a resource-constrained country. The program has grown from a collaborative effort with Ukrainian physicians and healthcare officials. With this collaboration, a multipronged approach has been developed to address the gaps in burn care as discovered by years of interaction with the medical community in Ukraine. Contact was initiated with the burn unit of a single municipal hospital in Lviv, Ukraine. Patients with burn injuries were screened and selected patients were comanaged over a 3-year period by American and Ukrainian physicians. This comanagement included repeated evaluation both by telemedicine conferencing as well as annual trips with physicians from Boston, Massachusetts, traveling to Ukraine to assess patients in an outreach clinic and perform surgical procedures. In our first trip in 2011 we assessed 22 patients and operated on 5. In 2012, 38 patients were evaluated and 12 had combined surgical intervention. In our 2013 trip, 63 patients were evaluated and we operated on 22 of these patients. Multiple clinical research projects related to burn prevention and improving perioperative care have been initiated, presented at national meetings, and submitted for publication in peer-reviewed journals. Our outreach program in Lviv, Ukraine, strives to improve overall burn care by a multilayered approach. These elements can serve as a possible template for additional international burn outreach plans as they can be customized for both large and small interventions.
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Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia.
Obesity (Silver Spring)
PUBLISHED: 02-28-2014
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Hyperphagia is a central feature of inherited disorders (e.g., Prader-Willi Syndrome) in which obesity is a primary phenotypic component. Hyperphagia may also contribute to obesity as observed in the general population, thus raising the potential importance of common underlying mechanisms and treatments. Substantial gaps in understanding the molecular basis of inherited hyperphagia syndromes are present as are a lack of mechanistic of mechanistic targets that can serve as a basis for pharmacologic and behavioral treatments.
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Improving burn care and preventing burns by establishing a burn database in Ukraine.
Burns
PUBLISHED: 01-10-2014
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Burns are a challenge for trauma care and a contribution to the surgical burden. The former Soviet republic of Ukraine has a foundation for burn care; however data concerning burns in Ukraine has historically been scant. The objective of this paper was to compare a new burn database to identify problems and implement improvements in burn care and prevention in this country.
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Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology.
Genet. Med.
PUBLISHED: 12-04-2013
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Purpose:Prader-Willi syndrome is an imprinting disorder characterized by typical facial, physical, and cognitive/behavioral features, resulting from lack of paternally expressed genes on chromosome 15q11.2-q13. Studies have suggested an increased risk of other imprinting disorders in children conceived by assisted reproductive techniques. This study was designed to determine the association between assisted reproductive technology and Prader-Willi syndrome.Methods:Data on individuals with Prader-Willi syndrome were collected from three distinct sources and the proportion of assisted reproductive technology births analyzed.Results:The proportions of assisted reproductive technology births in the Prader-Willi Syndrome Association (USA), Rare Diseases Clinical Research Network, and University of California, Irvine Medical Center populations were 1.0% (18/1,736), 1.0% (1/98), and 2.0% (1/50), respectively (overall 1.1%; population frequency for the United States was 1.0%). Of note, 2.4% (45/1,898) of participants were co-twins (11 born after assisted reproductive technology procedures); US twin frequency is 1.6% (P = 0.007). The proportion of individuals with maternal disomy 15/imprinting defects born after assisted reproductive technology was higher than that in the total sample, 55.6% (10/18) and 34.5% (431/1,250), respectively.Conclusion:This study found no association between assisted reproductive technology and Prader-Willi syndrome. There was an increased frequency of twinning. The number of individuals with maternal disomy 15/imprinting defect was nearly double in the assisted reproductive technology group as compared with the total Prader-Willi syndrome participants.Genet Med advance online publication 8 August 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.97.
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Immediate and early tissue expander placement for acute closure of scalp wounds.
Ann Plast Surg
PUBLISHED: 07-11-2013
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Scalp tissue expansion is a reliable technique for reconstruction of scalp alopecia and other deformities. However, the conventional practice involves establishing temporary wound coverage before expander placement, expansion, and definitive reconstruction. We propose that immediate (at the time of injury and initial wound debridement, leaving an open wound during expansion) tissue expander placement may be a reasonable approach to the management of full-thickness scalp wounds not amenable to primary closure.
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Case of extreme growth deceleration after burns.
Burns
PUBLISHED: 06-05-2013
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Studies have demonstrated deceleration in both weight and height following burns in children. It is expected patients will display catch up growth and return to normal weight within three years but continued height deficiency may remain in cases of severe burns. We describe a case of severe growth retardation of 8 years old orphan child from Ukraine who suffered of burn less than 40% of total body surface area when he was a 3 years of life. His case was complicated by domestic abuse, neglect and limited medical care. He initially presented to the United States for surgical care of his contractures but his treatment quickly focused on his profound growth retardation. Despite aggressive nutritional supplementation and evaluation he did not demonstrate any weight gain.
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Use of telemedicine to improve burn care in Ukraine.
J Burn Care Res
PUBLISHED: 05-25-2013
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Global burn injuries have been described as the "forgotten public health crises" by the World Health Organization. Nearly 11 million people a year suffer burns severe enough to require medical attention; more people are burned each year than are infected with human immunodeficiency virus/acquired immunodeficiency syndrome and tuberculosis combined. Telemedicine has the potential to link experts in specialized fields, such as burn care, to regions of the world that have limited or no access to such specialized care. A multilevel telemedicine program was developed between Massachusetts General Hospital/Shriners Hospital in Boston, Massachusetts, and City Hospital #8 in Lviv, Ukraine. The program should lead to a sustainable improvement in the care of burn victims in Ukraine. The authors helped establish a Learning Center at City Hospital #8 in Lviv, Ukraine, through which they were able to consult from Shriners Hospital in Boston, on a total of 14 acute burn patients in Ukraine. This article discusses two case reports with the use of telemedicine and how it has allowed the authors to provide not only acute care consultation on an international scale, but also to arrange for direct expert examination and international transport to their specialized burn center in the United States. The authors have established a program through doctors from Massachusetts General Hospital/Shriners Hospital in Boston, which works with a hospital in Ukraine and has provided acute consultation, as well as patient transportation to the United States for treatment and direct assessment.
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Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
J. Clin. Invest.
PUBLISHED: 04-18-2013
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Sim1 haploinsufficiency in mice induces hyperphagic obesity and developmental abnormalities of the brain. In humans, abnormalities in chromosome 6q16, a region that includes SIM1, were reported in obese children with a Prader-Willi-like syndrome; however, SIM1 involvement in obesity has never been conclusively demonstrated. Here, SIM1 was sequenced in 44 children with Prader-Willi-like syndrome features, 198 children with severe early-onset obesity, 568 morbidly obese adults, and 383 controls. We identified 4 rare variants (p.I128T, p.Q152E, p.R581G, and p.T714A) in 4 children with Prader-Willi-like syndrome features (including severe obesity) and 4 other rare variants (p.T46R, p.E62K, p.H323Y, and p.D740H) in 7 morbidly obese adults. By assessing the carriers relatives, we found a significant contribution of SIM1 rare variants to intra-family risk for obesity. We then assessed functional effects of the 8 substitutions on SIM1 transcriptional activities in stable cell lines using luciferase gene reporter assays. Three mutations showed strong loss-of-function effects (p.T46R, p.H323Y, and p.T714A) and were associated with high intra-family risk for obesity, while the variants with mild or no effects on SIM1 activity were not associated with obesity within families. Our genetic and functional studies demonstrate a firm link between SIM1 loss of function and severe obesity associated with, or independent of, Prader-Willi-like features.
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Chemical changes exhibited by latent fingerprints after exposure to vacuum conditions.
Forensic Sci. Int.
PUBLISHED: 03-20-2013
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The effect of vacuum exposure on latent fingerprint chemistry has been evaluated. Fingerprints were analysed using a quartz crystal microbalance to measure changes in mass, gas chromatography mass spectrometry to measure changes in lipid composition and attenuated total reflection Fourier transform infrared spectroscopy (ATR-FTIR) to determine changes in the content of water, fatty acids and their esters after exposure to vacuum. The results are compared with samples aged under ambient conditions. It was found that fingerprints lose around 26% of their mass when exposed to vacuum conditions, equivalent to around 5 weeks ageing under ambient conditions. Further exposure to vacuum causes a significant reduction in the lipid composition of a fingerprint, in particular with the loss of tetradecanoic and pentadecanoic acid, that was not observed in ambient aged samples. There are therefore implications for sequence in which fingerprint development procedures (for example vacuum metal deposition) are carried out, as well as the use of vacuum based methods such as secondary ion mass spectrometry (SIMS) and matrix-assisted laser desorption ionisation (MALDI) in the study of fingerprint chemistry.
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Molecular characterization of a patient presumed to have prader-willi syndrome.
Clin Med Insights Case Rep
PUBLISHED: 01-01-2013
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Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She died at age of 56 from pulmonary embolism. SNORD115 and SNORD116 are unexpectedly stable in post mortem tissue and can be used for post-mortem diagnosis. Molecular characterization of PWS tissue donors can confirm the diagnosis and identify those patients that have been misdiagnosed.
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Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
Eur. J. Hum. Genet.
PUBLISHED: 11-02-2011
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Prader-Willi syndrome (PWS) is a multisystem, contiguous gene disorder caused by an absence of paternally expressed genes within the 15q11.2-q13 region via one of the three main genetic mechanisms: deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. The deletion class is typically subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3 and BP2-BP3, respectively). Despite PWS being a well-characterized genetic disorder the role of the specific genes contributing to various aspects of the phenotype are not well understood. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a recently developed technique that detects copy number changes and aberrant DNA methylation. In this study, we initially applied MS-MLPA to elucidate the deletion subtypes of 88 subjects. In our cohort, 32 had a Type 1 and 49 had a Type 2 deletion. The remaining seven subjects had unique or atypical deletions that were either smaller (n=5) or larger (n=2) than typically described and were further characterized by array-based comparative genome hybridization. In two subjects both the PWS region (15q11.2) and the newly described 15q13.3 microdeletion syndrome region were deleted. The subjects with a unique or an atypical deletion revealed distinct phenotypic features. In conclusion, unique or atypical deletions were found in ?8% of the deletion subjects with PWS in our cohort. These novel deletions provide further insight into the potential role of several of the genes within the 15q11.2 and the 15q13.3 regions.
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Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.
Genet Test Mol Biomarkers
PUBLISHED: 10-06-2011
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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are complex neurodevelopmental disorders caused by loss of expression of imprinted genes from the 15q11-q13 region depending on the parent of origin. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) kits from MRC-Holland (Amsterdam, The Netherlands) were used to detect PWS and AS deletion subtypes. We report our experience with two versions of the MS-MLPA-PWS/AS kit (original A1 and newer B1) in determining methylation status and deletion subtypes in individuals with PWS.
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Prader-Willi syndrome.
Genet. Med.
PUBLISHED: 09-29-2011
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Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep abnormalities and scoliosis are common. Growth hormone insufficiency is frequent, and replacement therapy provides improvement in growth, body composition, and physical attributes. Management is otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65-75% of individuals), maternal uniparental disomy 15 (20-30%), or an imprinting defect (1-3%). Parent-specific DNA methylation analysis will detect >99% of individuals. However, additional genetic studies are necessary to identify the molecular class. There are multiple imprinted genes in this region, the loss of which contribute to the complete phenotype of Prader-Willi syndrome. However, absence of a small nucleolar organizing RNA gene, SNORD116, seems to reproduce many of the clinical features. Sibling recurrence risk is typically <1%, but higher risks may pertain in certain cases. Prenatal diagnosis is available.
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Prader-Willi syndrome.
Genet. Med.
PUBLISHED: 09-26-2011
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Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep abnormalities and scoliosis are common. Growth hormone insufficiency is frequent, and replacement therapy provides improvement in growth, body composition, and physical attributes. Management is otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65-75% of individuals), maternal uniparental disomy 15 (20-30%), or an imprinting defect (1-3%). Parent-specific DNA methylation analysis will detect >99% of individuals. However, additional genetic studies are necessary to identify the molecular class. There are multiple imprinted genes in this region, the loss of which contribute to the complete phenotype of Prader-Willi syndrome. However, absence of a small nucleolar organizing RNA gene, SNORD116, seems to reproduce many of the clinical features. Sibling recurrence risk is typically <1%, but higher risks may pertain in certain cases. Prenatal diagnosis is available.
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Changing trends in pediatric upper extremity electrical burns.
Hand (N Y)
PUBLISHED: 08-19-2011
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Upper extremity electrical burns are a cause of major morbidity and disability in affected individuals. Anecdotally, we have noted changes in the presentation of cases to our institution. We sought to compare current data on upper extremity electrical burns in children with our previously published historical data.
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Amphidoma languida sp. nov. (Dinophyceae) reveals a close relationship between Amphidoma and Azadinium.
Protist
PUBLISHED: 07-05-2011
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Toxic algae such as Alexandrium and Azadinium have an important ecological impact and have originated several times independently within the dinophytes. Their closest relatives, however, are mostly unknown at present. A new dinophyte species, Amphidoma languida sp. nov., was isolated from Bantry Bay (Ireland) during a period of elevated azaspiracid toxicity in mussels. The new species was described in detail, and its phylogenetic position was analysed, by using a combination of light and electron microscopy, chemical detection methods, and sequence comparison of concatenated ribosomal RNA sequence data. Morphological similarities, such as cingular and hypothecal plates, the number and arrangement of sulcal plates, and the characteristic apical pore complex with a small X-plate centrally invading the first apical plate, indicated a close relationship between Amphidoma and Azadinium. However, no known azaspiracid analogues were detected in A. languida by liquid chromatography coupled with tandem mass-spectrometry. In a molecular phylogeny, the Amphidomataceae including Amphidoma and Azadinium were an independent lineage among other monophyletic major groups of the dinophytes such as the Suessiales, Prorocentrales, Gonyaulacales, and Peridiniales. Thus, the taxonomic affiliation of Azadinium is clarified, and our data may prove helpful in the development of specific and reliable molecular detection methods of toxic Azadinium.
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Growth standards of infants with Prader-Willi syndrome.
Pediatrics
PUBLISHED: 03-14-2011
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To generate and report standardized growth curves for weight, length, head circumference, weight/length, and BMI for non-growth hormone-treated white infants (boys and girls) with Prader-Willi syndrome (PWS) between 0 and 36 months of age. The goal was to monitor growth and compare data with other infants with PWS.
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Mussels increase xenobiotic (azaspiracid) toxicity using a unique bioconversion mechanism.
Environ. Sci. Technol.
PUBLISHED: 03-14-2011
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Azaspiracid Poisoning (AZP) is a human toxic syndrome which is associated with the consumption of bivalve shellfish. Unlike other shellfish, mussels contain a large array of azaspiracid analogs, many of which are suspected bioconversion products. These studies were conducted to elucidate the metabolic pathways of azaspiracid (AZA1) in the blue mussel (Mytilus edulis) and revealed that the main biotransformation product was the more toxic demethyl analog, AZA3. To elucidate the mechanism of this C-demethylation, an unprecedented xenobiotic bioconversion step in shellfish, AZA1 was fed to mussels that contained no detectable azaspiracids. Triple quadrupole mass spectrometry (MS) and high resolution Orbitrap MS were used to determine the uptake of AZA1 and the toxin profiles in three tissue compartments of mussels. The second most abundant bioconversion product was identified as AZA17, a carboxyl analog of AZA3, which is a key intermediate in the formation of AZA3. Also, two pairs of isomeric hydroxyl analogs, AZA4/AZA5 and AZA7/AZA8, have been confirmed as bioconversion products for the first time. Ultra high resolution (100 k) MS studies showed that the most probable structural assignment for AZA17 is 22-carboxy-AZA3 and a mechanism for its facile decarboxylation to form AZA3 has been proposed.
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Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome.
J Neurodev Disord
PUBLISHED: 02-22-2011
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Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC?+?UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score ?15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lams) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score ?15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score ?15.
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Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome.
Am. J. Med. Genet. A
PUBLISHED: 02-18-2011
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Carnitine deficiency or coenzyme Q10 (CoQ10) deficiency may present with hypotonia, poor growth, easy fatigability, and apnea. This constellation of findings can also be seen in individuals with Prader-Willi syndrome (PWS). Animal studies indicate that increased fat mass due to obesity negatively correlates with both carnitine and CoQ10 levels in skeletal muscle. Increased body fat and obesity are characteristic of individuals with PWS. Currently, there is no documentation of serum carnitine levels, and only one study investigating plasma CoQ10 levels, in individuals with PWS. Fasting serum carnitine and plasma CoQ10 levels were measured in 40 individuals with molecularly confirmed PWS (ages 1-27 years; 19 F/21 M), 11 individuals with early-onset morbid obesity of unknown etiology (ages 3-13 years; 5 F/6 M), and 35 control siblings from both groups (ages 1-24 years; 19 F/16 M). There were no significant differences among the three groups in either total carnitine, free carnitine, or CoQ10 levels. However, individuals with PWS had higher serum levels of carnitine esters (P = 0.013) and higher ester-to-free carnitine ratios (P = 0.0096) than controls suggesting a possible underlying impairment of peripheral carnitine utilization and mitochondrial energy metabolism in some individuals with PWS. Serum sampling identified no significant differences in total and free carnitine or CoQ10 levels between individuals with PWS, obese individuals, and sibling control groups. Muscle biopsy or measurement in leukocytes or cultured skin fibroblasts could be a better method to identify abnormalities in carnitine and CoQ10 metabolism in individuals with PWS than peripheral blood sampling.
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Nutritional phases in Prader-Willi syndrome.
Am. J. Med. Genet. A
PUBLISHED: 01-25-2011
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Prader-Willi syndrome (PWS) is a complex neurobehavioral condition which has been classically described as having two nutritional stages: poor feeding, frequently with failure to thrive (FTT) in infancy (Stage 1), followed by hyperphagia leading to obesity in later childhood (Stage 2). We have longitudinally followed the feeding behaviors of individuals with PWS and found a much more gradual and complex progression of the nutritional phases than the traditional two stages described in the literature. Therefore, this study characterizes the growth, metabolic, and laboratory changes associated with the various nutritional phases of PWS in a large cohort of subjects. We have identified a total of seven different nutritional phases, with five main phases and sub-phases in phases 1 and 2. Phase 0 occurs in utero, with decreased fetal movements and growth restriction compared to unaffected siblings. In phase 1 the infant is hypotonic and not obese, with sub-phase 1a characterized by difficulty feeding with or without FTT (ages birth-15 months; median age at completion: 9 months). This phase is followed by sub-phase 1b when the infant grows steadily along a growth curve and weight is increasing at a normal rate (median age of onset: 9 months; age quartiles 5-15 months). Phase 2 is associated with weight gain-in sub-phase 2a the weight increases without a significant change in appetite or caloric intake (median age of onset 2.08 years; age quartiles 20-31 months;), while in sub-phase 2b the weight gain is associated with a concomitant increased interest in food (median age of onset: 4.5 years; quartiles 3-5.25 years). Phase 3 is characterized by hyperphagia, typically accompanied by food-seeking and lack of satiety (median age of onset: 8 years; quartiles 5-13 years). Some adults progress to phase 4 which is when an individual who was previously in phase 3 no longer has an insatiable appetite and is able to feel full. Therefore, the progression of the nutritional phases in PWS is much more complex than previously recognized. Awareness of the various phases will aid researchers in unraveling the pathophysiology of each phase and provide a foundation for developing rational therapies. Counseling parents of newly diagnosed infants with PWS as to what to expect with regard to these nutritional phases may help prevent or slow the early-onset of obesity in this syndrome.
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The ubiquitin+proteasome protein degradation pathway as a therapeutic strategy in the treatment of solid tumor malignancies.
Anticancer Agents Med Chem
PUBLISHED: 01-24-2011
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A concept that currently steers the development of cancer therapies has been that agents directed against specific proteins that facilitate tumorigenesis or maintain a malignant phenotype will have greater efficacy, less toxicity and a more sustained response relative to traditional cytotoxic chemotherapeutic agents. The clinical success of the targeted agent Imatinib mesylate as an inhibitor of the tyrosine kinase associated with the breakpoint cluster region-Abelson oncogene locus (BCR-ABL) in the treatment of Philadelphia-positive chronic myelogenous leukemia (CML) has served as a paradigm. While intellectually gratifying, the selective targeting of a single driver event by a small molecule, e.g., kinase inhibitor, to dampen a tumor-promoting pathway in the treatment of solid tumors is limited by many factors. Focus can alternatively be placed on targeting fundamental cellular processes that regulate multiple events, e.g., protein degradation, through the Ubiquitin (Ub)+Proteasome System (UPS). The UPS plays a critical role in modulating numerous cellular proteins to regulate cellular processes such as signal transduction, growth, proliferation, differentiation and apoptosis. Clinical success with the proteasome inhibitor bortezomib revolutionized treatment of B-cell lineage malignancies such as Multiple Myeloma (MM). However, many patients harbor primary resistance and do not respond to bortezomib and those that do respond inevitably develop resistance (secondary resistance). The lack of clinical efficacy of proteasome inhibitors in the treatment of solid tumors may be linked mechanistically to the resistance detected during treatment of hematologic malignancies. Potential mechanisms of resistance and means to improve the response to proteasome inhibitors in solid tumors are discussed.
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Thickness dependence of the terahertz response in (110)-oriented GaAs crystals for electro-optic sampling at 1.55 microm.
Opt Express
PUBLISHED: 08-20-2010
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We experimentally study the thickness dependence of the terahertz (THz) response in {110}-oriented GaAs crystals for free space electro-optic sampling at 1.55 microm. The THz response bandwidths are analyzed and simulated under phase-matching condition with a model frequency response function. The results indicate that the detection bandwidth increases from 2 THz to 3 THz when the thickness of GaAs is reduced from 2 mm to 1 mm. Below 1 mm, the detected bandwidth is increasingly limited by the emitter characteristics and the finite probe pulse duration. The broadest bandwidth in experiment reaches 3.3 THz when using a 0.2 mm thick crystal, while it exceeds 5 THz in theory. The THz response sensitivity was studied experimentally and modeled taking into account the absorption of the THz radiation in the GaAs crystal. While absorption was found to be negligible for the crystal thickness range studied here, strong saturation is predicted theoretically for crystal thicknesses exceeding 5 mm.
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Clinical and genetic aspects of Angelman syndrome.
Genet. Med.
PUBLISHED: 05-07-2010
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Angelman syndrome is characterized by severe developmental delay, speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavioral phenotype that includes happy demeanor and excessive laughter. Microcephaly and seizures are common. Developmental delays are first noted at 3 to 6 months age, but the unique clinical features of the syndrome do not become manifest until after age 1 year. Management includes treatment of gastrointestinal symptoms, use of antiepileptic drugs for seizures, and provision of physical, occupational, and speech therapy with an emphasis on nonverbal methods of communication. The diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 78% of individuals with lack of maternal contribution. Less than 1% of individuals have a visible chromosome rearrangement. UBE3A sequence analysis detects mutations in an additional 11% of individuals. The remaining 10% of individuals with classic phenotypic features of Angelman syndrome have a presently unidentified genetic mechanism and thus are not amenable to diagnostic testing. The risk to sibs of a proband depends on the genetic mechanism of the loss of the maternally contributed Angelman syndrome/Prader-Willi syndrome region: typically <1% for probands with a deletion or uniparental disomy; as high as 50% for probands with an imprinting defect or a mutation of UBE3A. Members of the mothers extended family are also at increased risk when an imprinting defect or a UBE3A mutation is present. Chromosome rearrangements may be inherited or de novo. Prenatal testing is possible for certain genetic mechanisms.
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Pediatric burn-related scalp alopecia treated with tissue expansion and the incidence of associated facial burn injuries.
J Burn Care Res
PUBLISHED: 04-09-2010
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In the pediatric population, cutis aplasia, scalp avulsion, and burn injuries are the leading causes of scalp alopecia that is evaluated for reconstruction by plastic surgeons. Scalp alopecia is seen in 25% of children who suffer burn injuries of the head and neck. These injuries are rarely isolated to the scalp, and the adjacent structures are often affected. This may complicate reconstruction surgery and necessitate multiple reconstructive procedures. A retrospective chart was performed of all cases of staged scalp tissue-expansion cases performed for the reconstruction of burn-related scalp alopecia by the two senior authors at the Shriners Hospital for Children of Boston between 2003 and 2007. In each case, the incidence and severity of burn-related deformities of the nose, eyebrows, and ears as seen in clinical photographs were documented. Between 2003 and 2007, 96 scalp tissue expanders were placed in 78 patients for the treatment of scalp alopecia. Of these patients, associated adjacent burn deformities were commonly found involving the ear, nose, and eyebrow. These injuries included ear deformity (46%), nasal deformity (27%), and eyebrow deformity (46%). In planning the surgical reconstruction for pediatric scalp alopecia, it is helpful to evaluate each patient for adjacent structure burn injuries requiring reconstruction. It is our belief that the stages of tissue expansion surgery can be combined with the reconstruction of associated burn injuries sometimes using the region of expected alopecia excision.
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Combining scalp tissue expansion with porous polyethylene total ear reconstruction in burned patients.
Ann Plast Surg
PUBLISHED: 01-26-2010
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Burned ear reconstruction remains one of the most difficult areas of plastic surgery. A superior result is needed to justify the donor site morbidity when reconstructing with a costochondral graft. Recently, more studies have evaluated porous polyethylene ear reconstruction in microtia and in burns. A total loss of the pinna from burns is rare and often associated with significant alopecia. Tissue expansion is an excellent means of reconstructing burned scalp alopecia. Deeply burned skin is often so densely scarred that a costochondral graft would produce a nondescript scarred mass with little resemblance to the native ear. This mini series overview describes 3 cases of porous polyethylene and total ear reconstructions done in conjunction with tissue expansion reconstruction for burn alopecia. This method can be used as a very efficient combination of procedures in a severely burned patient without the additional morbidity of costochondral grafting.This is the first description of this combination of procedures. At the initial procedure, a large tissue expander is placed beneath the hair-bearing scalp in a subgaleal plane. At the time of tissue expander removal and alopecia resection, a temporoparietal fascia flap is elevated. The incisions for alopecia resection allow easy dissection behind the external auditory meatus. The porous polyethylene construct is then placed posteriorly and wrapped with the temporoparietal fascial flap. The hairline is reconstructed simultaneously. The technique described makes full use of the temporoparietal fascial flap that may, otherwise, be resected or injured with the alopecia resection. It also allows alopecia reconstruction and accomplishes 2 reconstructive goals at once with little or no donor site morbidity.
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Sleep disordered breathing in infants with Prader-Willi syndrome during the first 6 weeks of growth hormone therapy: a pilot study.
J Clin Sleep Med
PUBLISHED: 12-08-2009
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Sleep-related breathing disorders are common in individuals with Prader-Willi syndrome (PWS). The US Food and Drug Administration approved the use of growth hormone in PWS in 2000. Many infants with PWS are being started on growth hormone therapy, but no data exist on the respiratory effects of growth hormone treatment in this age group.
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Is gestation in Prader-Willi syndrome affected by the genetic subtype?
J. Assist. Reprod. Genet.
PUBLISHED: 08-14-2009
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Prader-Willi syndrome (PWS) is a complex genetic disorder with errors in genomic imprinting, generally due to a paternal deletion of chromosome 15q11-q13 region. Maternal disomy 15 (both 15s from the mother) is the second most common form of PWS resulting from a trisomic zygote followed by trisomy rescue in early pregnancy and loss of the paternal chromosome 15. However, trisomy 15 or mosaicism for trisomy 15 may be present in the placenta possibly leading to placental abnormalities affecting gestational age and delivery.
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Mastopexy techniques after massive weight loss: an algorithmic approach and review of the literature.
Ann Plast Surg
PUBLISHED: 06-24-2009
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Mastopexy after massive weight loss (MWL) poses unique challenges that may not be successfully addressed with traditional mastopexy procedures. Several novel techniques have been proposed to improve esthetic outcomes; however, little data exists to guide the plastic surgeon on choice of technique for individual patients. A literature review revealed 10 articles with specific emphasis on mastopexy techniques in MWL patients. These articles focused on ways to improve shape, projection, and long-term results, using autologous tissue alone or combined with breast implants. Key concepts include increasing volume of the breast by utilizing excess axillary tissue (lateral thoracic/spiral/intercostal artery perforator flap), modification of existing superomedial pedicle techniques to maximize breast volume, and increasing breast parenchymal support with suture fixation and dermal suspension. This article offers an algorithmic approach to treat breast ptosis in the MWL patient based on breast volume, axillary tissue, desired scar location, and preferred surgical technique.
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Early childhood obesity is associated with compromised cerebellar development.
Dev Neuropsychol
PUBLISHED: 05-14-2009
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As part of a study investigating commonalities between Prader-Willi syndrome (PWS-a genetic imprinting disorder) and early-onset obesity of unknown etiology (EMO) we measured total cerebral and cerebellar volume on volumetric magnetic resonance imaging (MRI) images. Individuals with PWS (N = 16) and EMO (N = 12) had smaller cerebellar volumes than a control group of 15 siblings (p = .02 control vs. EMO; p = .0005 control vs. PWS), although there was no difference among the groups in cerebral volume. Individuals with PWS and EMO also had impaired cognitive function: general intellectual ability (GIA): PWS 65 +/- 25; EMO 81 +/- 19; and Controls 112 +/- 13 (p < .0001 controls vs. PWS and controls vs. EMO). As both conditions are characterized by early-onset obesity and slowed cognitive development, these results raise the possibility that early childhood obesity retards both cerebellar and cognitive development.
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Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Am. J. Hum. Genet.
PUBLISHED: 03-27-2009
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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder of the lung with defining histologic abnormalities typically associated with multiple congenital anomalies (MCA). Using array CGH analysis, we have identified six overlapping microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.2 in patients with ACD/MPV and MCA. Subsequently, we have identified four different heterozygous mutations (frameshift, nonsense, and no-stop) in the candidate FOXF1 gene in unrelated patients with sporadic ACD/MPV and MCA. Custom-designed, high-resolution microarray analysis of additional ACD/MPV samples revealed one microdeletion harboring FOXF1 and two distinct microdeletions upstream of FOXF1, implicating a position effect. DNA sequence analysis revealed that in six of nine deletions, both breakpoints occurred in the portions of Alu elements showing eight to 43 base pairs of perfect microhomology, suggesting replication error Microhomology-Mediated Break-Induced Replication (MMBIR)/Fork Stalling and Template Switching (FoSTeS) as a mechanism of their formation. In contrast to the association of point mutations in FOXF1 with bowel malrotation, microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes. These differences reveal the phenotypic consequences of gene alterations in cis.
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Prader-Willi syndrome.
Eur. J. Hum. Genet.
PUBLISHED: 02-06-2009
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Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.
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Nasal reconstruction after severe facial burns using a local turndown flap.
Ann Plast Surg
PUBLISHED: 01-23-2009
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Reconstruction of the nose after severe burn injury is a challenging problem. There are usually associated facial burns, which limits the availability of local flaps. Reconstruction with unburned distant tissue is often not appropriate because of the resulting mismatch in color and texture. Successful nasal reconstruction can be accomplished in this group of challenging patients using a simple, inferiorly based flap from the nasal dorsum with subsequent skin grafting to the resulting defect. We have used an inferiorly based nasal turndown flap to reconstruct severe nasal deformities after burn injury in 28 patients. The flap tissue consists of the dorsal surface of the nose, which is usually made up of skin graft and scar. The flap base is the scar transition zone between the dorsum of the nose and the lining mucosa. This is turned over to provide nasal length, projection, and to stimulate alar lobules. The resulting defect on the dorsum of the nose is then skin grafted. If further length or refinement is required, the procedure may be repeated. The records of all patients who underwent this procedure were reviewed for demographics, age at burn, percentage of total body surface area burned (%TBSA), availability of the forehead, number of procedures, and complications. Twenty-eight patients underwent nasal reconstruction in our series using this local turndown flap. Most of these patients had severe burns, with an average %TBSA of 46%. The procedure was initially applied to patients with devastating injuries and %TBSA of 80%-95%, with extremely limited donor sites. As the success of the procedure was established, less severely burned patients were included in the series, thereby lowering the mean %TBSA. All patients had partial or complete destruction of their forehead donor site. All patients presented for multiple hospitalizations, with an average of 17 hospital admissions. Using this local turndown flap, adequate nasal length and projection could be achieved. There were few complications. All of the flaps survived, although there were 2 cases of necrosis of the distal edge of the flaps (0.7%). This resulted in decreased length and projection but this problem was successfully addressed with additional staged procedures. Contraction of local scar tissue created bulk and support, eliminating the need for distant tissue transfer or cartilage grafting. Twelve of the 28 patients required repeat turndown flaps to achieve sufficient nasal length and projection. These results were durable over a follow-up period of up to several decades. A simple, multistaged dorsal nasal flap can be used to reconstruct severe nasal deformities after facial burn injury. This can obviate the need for distant tissue transfer. Even in patients with subtotal nasal amputation and complete absence of cartilaginous support, the opportunistic use of scar tissue can restore nasal tip projection and alar lobule architecture without cartilage grafting. The resulting nasal reconstruction blends well into the surrounding facial appearance. This simple technique has been remarkably successful in this selected group of patients with challenging nasal deformities.
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Polycarbonate bottle use and urinary bisphenol A concentrations.
Environ. Health Perspect.
PUBLISHED: 01-22-2009
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Bisphenol A (BPA) is a high-production-volume chemical commonly used in the manufacture of polycarbonate plastic. Low-level concentrations of BPA in animals and possibly in humans may cause endocrine disruption. Whether ingestion of food or beverages from polycarbonate containers increases BPA concentrations in humans has not been studied.
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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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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.