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Thousands of pathogenic variants in more than 100 genes can cause kidney cysts with substantial variability in phenotype and risk of subsequent kidney failure. Despite an established genotype-phenotype correlation in cystic kidney diseases, incomplete penetrance and variable disease expressivity are present as is the case in all monogenic diseases. In family members with autosomal dominant polycystic kidney disease (ADPKD), the same causal variant is responsible in all affected family members; however, there can still be striking discordance in phenotype severity. This narrative review explores contributors to within-family discordance in ADPKD severity. Cases of biallelic and digenic inheritance, where 2 rare pathogenic variants in cystogenic genes are coexistent in one family, account for a small proportion of within-family discordance. Genetic background, including cis and trans factors and the polygenic propensity for comorbid disease, also plays a role but has not yet been exhaustively quantified. Environmental exposures, including diet; smoking; alcohol, salt, and protein intake, and comorbid diseases, including obesity, diabetes, hypertension, kidney stones, dyslipidemia, and additional coexistent kidney diseases all contribute to ADPKD phenotypic variability among family members. Given that many of the factors contributing to phenotype variability are preventable, modifiable, or treatable, health care providers and patients need to be aware of these factors and address them in the treatment of ADPKD.
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BACKGROUND: Currently, no consensus metric for measuring academic productivity within plastic surgery exists. The h-index is widely used, as it captures both the quantity and quality of an individual's contribution. However, discrepancies in online reporting make accurate h-index calculation challenging. This study highlights inconsistencies within plastic surgery by assessing differences in reporting of the h-index and other measures of academic productivity across online scientific databases. METHODS: Plastic surgery faculty at institutions with Accreditation Council for Graduate Medical Education-accredited residency programs were identified and searched across four databases: Web of Science, Scopus, Google Scholar, and the National Library of Medicine (PubMed). The total number of publications, citations, and h-index were recorded for each author and analyzed using a Mann-Whitney test. RESULTS: Seven hundred twenty-two faculty members were included in this study. Reporting of publications was highest in Google Scholar and lowest in Web of Science. Because of incomplete information (PubMed) and underuse (Google Scholar), h-index could be assessed only between Web of Science and Scopus, where the average discrepancy in citations and h-index was 722 and 7.0 per author, respectively. Discrepancies were more significant among faculty members holding a Ph.D. degree, higher academic rank, or belonging to the male gender. CONCLUSIONS: Inconsistencies between online scientific databases profoundly affect plastic surgeons. Given the importance placed on metrics such as the h-index, it is imperative that the plastic surgery community push for solutions that ensure more reliable, transparent, and cohesive reporting of academic productivity.
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Bibliometria , Pesquisa Biomédica/estatística & dados numéricos , Docentes de Medicina , Fator de Impacto de Revistas , Publicações Periódicas como Assunto/estatística & dados numéricos , Editoração/estatística & dados numéricos , Cirurgia Plástica , Eficiência , HumanosRESUMO
This study presents a systematic review of randomized controlled trials (RCTs) in cleft and craniofacial surgery. All studies reporting on RCTs in cleft and craniofacial surgery were identified on PubMed using the search terms "cleft," "velopharyngeal insufficiency," "velopharyngeal dysfunction," "nasoalveolar molding," "gingivoperiosteoplasty," "Pierre Robin sequence," "craniofacial," "craniosynostosis," "craniofacial microsomia," "hemifacial microsomia," "hypertelorism," "Le Fort," "monobloc," "distraction osteogenesis," "Treacher Collins," and "Goldenhar." Studies were excluded if they were not randomized, did not focus primarily on topics related to cleft or craniofacial surgery, included repeat publications of data, or were unavailable in English. Studies were evaluated on demographic and bibliometric data, study size, specific area of focus, and findings reported. Four hundred forty-seven unique studies were identified. One hundred eighty-three papers met inclusion criteria (115 cleft lip and palate, 65 craniofacial, and 3 spanning both disciplines). Sixty-six (36%) were dedicated to topics related to surgical techniques. There were no studies comparing current cleft lip or soft palate repair techniques and no studies on cleft rhinoplasty. The most frequently reported surgical topic was cleft palate. There were several studies on orthognathic techniques which compared distraction osteogenesis to traditional advancement. Most craniofacial operations, such as cranial vault remodeling and frontofacial advancement/distraction, were not represented. Several standard operations in cleft and craniofacial surgery are not supported by Level I evidence from randomized controlled trials. Our community should consider methods by which more RCTs can be performed, or redefine the acceptable standards of evidence to guide our clinical decisions.
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Procedimentos Cirúrgicos Ortognáticos/estatística & dados numéricos , Ensaios Clínicos Controlados Aleatórios como Assunto/estatística & dados numéricos , Enxerto de Osso Alveolar , Bibliometria , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Humanos , Insuficiência Velofaríngea/cirurgiaRESUMO
BACKGROUND: Despite the growing success of facial transplantation, organ donor shortages remain challenging. Educational health campaigns can effectively inform the general public and institute behavioral modifications. A brief educational introduction to facial transplantation may positively influence the public's position on facial donation. METHODS: The authors anonymously surveyed 300 participants, gathering basic demographic information, donor registration status, awareness of facial transplantation, and willingness to donate solid organs and facial allografts. Two-hundred of these participants were presented an educational video and subsequently resurveyed on facial donation. Factorial parametric analyses were performed to compare exposure responses before and after watching video exposure. RESULTS: Among participants completing the survey alone (control group), 49 percent were registered donors, 78 percent reported willingness to donate solid organs, and 52 percent reported willingness to donate facial allograft. Of participants who watched the video (video group) 52 percent were registered; 69 and 51 percent were willing to donate solid organs and face, respectively. Following educational intervention, 69 percent of participants in the video group reported willingness to donate facial tissue, an 18 percent increase (p < 0.05), that equated to those willing to donate solid organs. The greatest increase was observed among younger participants (23 percent); women (22 percent); Jewish (22 percent), Catholic (22 percent), and black/African American (25 percent) participants; and respondents holding a higher degree. No significant differences according to gender or ethnicity were observed. CONCLUSION: Educational interventions hold much promise for increasing the general public's awareness of facial transplantation and willingness to participate in donation of facial allografts.
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Transplante de Face/psicologia , Educação em Saúde/métodos , Conhecimentos, Atitudes e Prática em Saúde , Doadores de Tecidos/psicologia , Obtenção de Tecidos e Órgãos/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cidade de Nova Iorque , Inquéritos e Questionários , Gravação em Vídeo , Adulto JovemRESUMO
INTRODUCTION: In 2014, the Canadian Task Force on Preventive Health Care (CTFPHC) recommended against routine prostate cancer screening with the prostate-specific antigen (PSA) blood test. We surveyed Canadian primary care physicians (PCPs) to understand their opinions and attitudes towards prostate cancer screening in 2016. METHODS: Twenty PCPs piloted the survey to assess its accessibility. We distributed a flyer to 19 633 PCPs as an insert in a large mailed package inviting them to attend a national meeting, and later promoted the survey at the meeting. Multinomial logistic regression models examined factors associated with agreement of key guideline statements and the overall benefit of PSA screening. RESULTS: A total of 1254 PCPs responded (rate of 6.4%); 54.7% of physicians aware of the CTFPHC recommendations report screening less often as a result. Overall, 55.6% of PCPs feel that the risks of PSA screening outweigh the benefits. On multivariable analysis, physicians who did not read the guidelines, did not have an academic appointment, or were in practice for over 20 years were significantly more likely to disagree with the statement that men 55-69 years old should not be screened for prostate cancer with PSA. CONCLUSIONS: Our national survey found that the prostate cancer screening practices of Canadian PCPs varies widely across physician demographic groups, with almost equal numbers for or against. This has significant ethical, medical, and legal implications. The poor response rate to highly incentivized survey request may suggest a reluctance or general apathy towards this subject because of the Task Force recommendations. Future efforts should provide physicians with objective guidance around PSA screening, incorporating input from all stakeholders, including PCPs, urologists, and patients.
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BACKGROUND: Delayed graft function (DGF) and slow graft function (SGF) are ischemia-reperfusion-associated acute kidney injuries (AKI) that decrease long-term graft survival after kidney transplantation. Regulatory T (Treg) cells are protective in murine AKI, and their suppressive function predictive of AKI in kidney transplantation. The conventional Treg cell function coculture assay is however time-consuming and labor intensive. We sought a simpler alternative to measure Treg cell function and predict AKI. METHODS: In this prospective observational cohort study, pretransplant recipient circulating CD4+CD25+CD127lo/- and CD4+CD127lo/- tumor necrosis factor receptor 2 (TNFR2)+ Treg cells were measured by flow cytometry in 76 deceased donor kidney transplant recipients (DGF, n = 18; SGF, n = 34; immediate graft function [IGF], n = 24). In a subset of 37 recipients, pretransplant circulating Treg cell-suppressive function was also quantified by measuring the suppression of autologous effector T-cell proliferation by Treg cell in coculture. RESULTS: The TNFR2+ expression on CD4+CD127lo/- T cells correlated with Treg cell-suppressive function (r = 0.63, P < 0.01). In receiver operating characteristic curves, percentage and absolute number of CD4+CD127lo/-TNFR2+ Treg cell predicted DGF from non-DGF (IGF + SGF) with area under the curves of 0.75 and 0.77, respectively, and also AKI (DGF + SGF) from IGF with area under the curves of 0.76 and 0.72, respectively (P < 0.01). Prediction of AKI (DGF + SGF) from IGF remained significant in multivariate logistic regression accounting for cold ischemic time, donor age, previous transplant, and pretransplant dialysis modality. CONCLUSIONS: Pretransplant recipient circulating CD4+CD127lo/-TNFR2+ Treg cell is potentially a simpler alternative to Treg cell function as a pretransplant recipient immune marker for AKI (DGF + SGF), independent from donor and organ procurement characteristics.