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1.
J Drugs Dermatol ; 22(4): 364-368, 2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37026886

RESUMO

BACKGROUND: Local anesthesia administration is frequently the most painful step of dermatologic surgery. Identification of an anesthetic that minimizes infiltration pain and toxicity while maximizing duration of action would improve both patient satisfaction and procedural safety. This study compared eight local anesthetic solutions to identify the composition that minimizes infiltration pain, maximizes duration of effect, and minimizes amount of local anesthetic needed. METHODS: In a double-blinded study, thirty subjects were injected with eight local anesthetic solutions of varied concentrations of lidocaine, epinephrine, benzyl alcohol, and sodium bicarbonate. Infiltration pain was rated by subjects using a visual analog scale and duration of anesthesia was assessed by needle prick sensation every 15 minutes. RESULTS: Solutions 2, 7, and 8, were significantly less painful (P<0.001), though not statistically different from each other. Two of the three solutions were buffered 10:1 with sodium bicarbonate. Additionally, two of the three contained notably decreased concentrations of lidocaine, 0.091% and 0.083%, than traditionally used in practice. The use of benzyl alcohol did not result in a reduction of reported pain. The duration of action was equal among the solutions regardless of anesthetic concentration. CONCLUSIONS: A solution of 0.091% lidocaine with epinephrine 1:1,100,000 and 0.82% benzyl alcohol reduces medication dose while ensuring maximum patient comfort and, theoretically, increases shelf life. While considered off-label, clinically effective dermal anesthesia may be obtained at a lower concentration of lidocaine and epinephrine than is commonly used, aiding conservative use of local anesthetic, particularly during times of national shortage. J Drugs Dermatol. 2023;22(4): doi:10.36849/JDD.5183 Citation: Moses A, Klager S, Weinstein A, et al. A comparative analysis of local anesthetics: Injection associated pain and duration of anesthesia. J Drugs Dermatol. 2023;22(4):364-368. doi:10.36849/JDD.5183.


Assuntos
Anestésicos Locais , Bicarbonato de Sódio , Humanos , Anestésicos Locais/efeitos adversos , Lidocaína/efeitos adversos , Dor/tratamento farmacológico , Dor/etiologia , Epinefrina/efeitos adversos , Álcool Benzílico , Anestesia Local , Método Duplo-Cego
2.
BMC Med Educ ; 23(1): 188, 2023 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-36978085

RESUMO

BACKGROUND: Many students report feeling inadequately prepared for their clinical experiences in pediatrics. There is striking variability on how pediatric clinical skills are taught in pre-clerkship curricula. METHODS: We asked students who completed their clerkships in pediatrics, family medicine, surgery, obstetrics-gynecology and internal medicine to rate their pre-clinical training in preparing them for each clerkship, specifically asking about medical knowledge, communication, and physical exam skills. Based on these results, we surveyed pediatric clerkship and clinical skills course directors at North American medical schools to describe the competence students should have in the pediatric physical exam prior to their pediatric clerkship. RESULTS: Close to 1/3 of students reported not feeling adequately prepared for their pediatrics, obstetrics-gynecology, or surgery clerkship. Students felt less prepared to perform pediatric physical exam skills compared to physical exam skills in all other clerkships. Pediatric clerkship directors and clinical skills course directors felt students should have knowledge of and some ability to perform a wide spectrum of physical exam skills on children. There were no differences between the two groups except that clinical skills educators identified a slightly higher expected competence for development assessment skills compared to pediatric clerkship directors. CONCLUSIONS: As medical schools undergo cycles of curricular reform, it may be beneficial to integrate more pre-clerkship exposure to pediatric topics and skills. Further exploration and collaboration establishing how and when to incorporate this learning could serve as a starting point for curricular improvements, with evaluation of effects on student experience and performance. A challenge is identifying infants and children for physical exam skills practice.


Assuntos
Estágio Clínico , Estudantes de Medicina , Humanos , Criança , Avaliação das Necessidades , Currículo , Medicina Interna/educação , Competência Clínica
3.
Chem Rev ; 118(5): 2636-2679, 2018 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-28975795

RESUMO

Palladium-catalyzed aerobic oxidation reactions have been the focus of industrial application and extensive research efforts for nearly 60 years. A significant transition occurred in this field approximately 20 years ago, with the introduction of catalysts supported by ancillary ligands. The ligands play crucial roles in the reactions, including promotion of direct oxidation of palladium(0) by O2, bypassing the typical requirement for Cu salts or related redox cocatalysts to facilitate oxidation of the reduced Pd catalyst; facilitation of key bond-breaking and bond-forming steps during substrate oxidation; and modulation of chemo-, regio-, or stereoselectivity of a reaction. The use of ligands has contributed to significant expansion of the scope of accessible aerobic oxidation reactions. Increased understanding of the role of ancillary ligands should promote the development of new synthetic transformations, enable improved control over the reaction selectivity, and improve catalyst activity and stability. This review surveys the different ligands that have been used to support palladium-catalyzed aerobic oxidation reactions and, where possible, describes mechanistic insights into the role played by the ancillary ligand.


Assuntos
Ligantes , Paládio/química , 2,2'-Dipiridil/química , Catálise , Metano/análogos & derivados , Metano/química , Oxirredução , Oxigênio/química , Piridinas/química , Quinolinas/química , Safrol/análogos & derivados , Safrol/química
5.
J Nucl Cardiol ; 26(1): 236-245, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-28462467

RESUMO

BACKGROUND: Data regarding cardiac cadmium-zinc-telluride (CZT)-specific augmented databases and their impact on CT-based attenuation correction (AC) perfusion scores in myocardial perfusion imaging (MPI) were obtained on a multiple-pinhole CZT SPECT/CT. METHODS AND RESULTS: Summed stress (SSS) and rest scores (SRS) were measured using automated software in three independent patient groups: group 1 (n = 80) underwent MPI on both CZT and conventional sodium iodide (NaI) devices, group 2 (n = 80) with low coronary artery disease likelihood and normal MPI provided reference CZT databases; and group 3 (n = 152) served to compare AC and non-AC (NAC) scores on CZT. Group 1 CZT and NaI scores gave a significant 1:1 linear correlation for CZT scores referenced to the custom database vs NaI scores referenced to the default database, but these were not concordant when CZT scores were referenced to the default database. AC significantly decreased average SSS and SRS in men vs NAC, 4.29 ± 6.30 vs 5.37 ± 7.26 (P < 0.001) and 2.37 ± 4.72 vs 3.13 ± 5.85 (P < 0.001), but not in women, 2.28 ± 3.42 vs 2.28 ± 3.08 (p NS) and 0.46 ± 1.51 vs 0.61 ± 1.86, (p NS), respectively. CONCLUSIONS: Specifically designed databases for solid-state CZT cardiac SPECT provide accurate quantitation of perfusion scores concordant with those previously validated for conventional SPECT. AC and NAC CZT scores differed significantly, especially in men.


Assuntos
Coração/diagnóstico por imagem , Imagem de Perfusão do Miocárdio , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único , Idoso , Cádmio , Doença da Artéria Coronariana/diagnóstico por imagem , Bases de Dados Factuais , Feminino , Câmaras gama , Humanos , Masculino , Pessoa de Meia-Idade , Perfusão , Processamento de Sinais Assistido por Computador , Software , Telúrio , Zinco
6.
J Emerg Med ; 56(4): 441-443, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30826084

RESUMO

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a complement-mediated disease manifesting in thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury. It has a higher incidence of extrarenal manifestations, including central nervous system findings like seizure or stroke, pancreatitis, and cardiac manifestations. CASE REPORT: We present a case of an unimmunized 14-month-old girl presenting with generalized seizure and ultimately diagnosed with aHUS. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: These atypical neurological symptoms can cause the diagnosis to be commonly missed in the emergency department. The etiology of approximately 60% of patients with aHUS can be attributed to genetic mutations in complement regulators including factor H, membrane cofactor protein, factor I, activator factor B, or C3. Although previously treated with plasma transfusion and immunosuppressants, eculizumab is a newer treatment that has been changing prognosis and management of aHUS, but it should be administered within 48 h of symptom onset for best efficacy.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/complicações , Convulsões/etiologia , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Soluções Tampão , Gluconato de Cálcio/uso terapêutico , Eletroencefalografia/métodos , Feminino , Humanos , Hiperpotassemia/tratamento farmacológico , Hiperpotassemia/etiologia , Hipnóticos e Sedativos/uso terapêutico , Incidência , Lactente , Midazolam/uso terapêutico , Convulsões/tratamento farmacológico , Convulsões/fisiopatologia , Bicarbonato de Sódio/uso terapêutico , Trombocitopenia/etiologia , Vômito/etiologia
7.
Surg Endosc ; 30(2): 670-675, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26091995

RESUMO

BACKGROUND: Ventral hernia repair in obese patients has a high perioperative morbidity and recurrence. The laparoscopic approach may reduce those rates. This study compares those outcomes following laparoscopic ventral hernia repair (LVHR) with the standard open approach (OVHR) in obese patients. METHODS: A retrospective review of patients with a BMI > 30 kg/m(2) that had undergone ventral hernia repair (VHR) between 2004 and 2012 was included. Demographics, perioperative complications and recurrence rates were compared between the two approaches. Hernia size was divided into three categories (small, medium and large). Physical examination and CT imaging mainly evaluated recurrences. RESULTS: A total of 186 patients that underwent VHR were included, 35 patients had LVHR. Groups did not differ in terms of age, gender, ASA score, BMI and in rates of primary or incisional ventral hernia repair. The laparoscopic repairs were performed on significantly larger hernias (48.6 vs. 28.9% categorized as large, p = 0.02). The operative time was significantly longer in the laparoscopic repair (102 vs. 67 min, p < 0.01). Overall, perioperative complications following LVHR and OVHR were 17.1 versus 20.5% (p = 0.53). Wound-related complications were lower in the LVHR group (5.7 vs. 15.8%, p = 0.09). After a mean follow-up of 58 months, recurrence rates in the laparoscopic and open approaches were 20.0 versus 27.1% (p = 0.28), respectively. Advanced age was found to be a significantly protector from recurrence (OR -0.03; 95% CI 0.96-0.01, p = 0.01). OVHR carries an odds ratio of 2.7 (95% CI 0.88-8.2, p = 0.07) for recurrence compared with OVHR. CONCLUSIONS: The risk of recurrence after VHR in obese patients is high. Laparoscopic approach offers a better perioperative and recurrence outcome. We believe that change in those outcomes is possible through weight loss procedures, but may need further studies to be conducted in the form of prospective randomized trials.


Assuntos
Hérnia Ventral/cirurgia , Herniorrafia/métodos , Laparoscopia , Obesidade/complicações , Adulto , Idoso , Feminino , Seguimentos , Hérnia Ventral/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Duração da Cirurgia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
8.
BMC Nephrol ; 17(1): 83, 2016 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-27422016

RESUMO

BACKGROUND: The global pediatric nephrology workforce is poorly characterized. The objectives of our study were to assess pediatric nephrologists' perceptions of the adequacy of the pediatric nephrology workforce, and understand regional challenges to fellow recruitment and job acquisition. Perceptions regarding optimal length of training and research requirements were also queried. METHODS: A 17-question web-based survey comprised of 14 close-ended and 3 open-ended questions was e-mailed to members of the International Pediatric Nephrology Association. Quantitative and qualitative analyses were performed. RESULTS: We received 341 responses from members of the International Pediatric Nephrology Association from 71 countries. There was a high degree of overall perceived workforce inadequacy with 67 % of all respondents reporting some degree of shortage. Perceived workforce shortage ranged from 20 % in Australia/New Zealand to 100 % in Africa. Respondents from Africa (25 %) and North America (22.4 %) reported the greatest difficulty recruiting fellows. Respondents from Australia/New Zealand (53.3 %) and Latin America (31.3 %) reported the greatest perceived difficulty finding jobs as pediatric nephrologists after training. Low trainee interest, low salary, lack of government or institutional support, and few available jobs in pediatric nephrology were the most frequently reported obstacles to fellow recruitment and job availability. CONCLUSIONS: Globally, there is a high level of perceived inadequacy in the pediatric nephrology workforce. Regional variability exists in perceived workforce adequacy, ease of recruitment, and job acquisition. Interventions to improve recruitment targeted to specific regional barriers are suggested.


Assuntos
Atitude do Pessoal de Saúde , Mão de Obra em Saúde/normas , Internacionalidade , Nefrologia/normas , Pediatria/normas , Médicos/normas , Humanos , Nefrologia/tendências , Pediatria/tendências , Médicos/psicologia , Médicos/tendências , Inquéritos e Questionários/normas
9.
Nephrol News Issues ; 29(12): 58-60, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26677598

RESUMO

It is important for providers and practices to begin working with registry level data. Submitting data to a qualified clinical data registry currently satisfies Meaningful Use Stage II menu set items. In the future, with the rollout of MIPS and the increasing focus on sharing risk, registry data will be used as a benchmark for both publicly-reported performance (the physician compare program will be linked to provider-level QCDR data) and modifications to reimbursement. It is important to remember that PQRS data is the basis for the value based modifier now and MIPS- related quality data after 2018. The RPA has launched and is evolving a unique and versatile nephrology-specific data collection and analytics tool. In collaboration with the American Society of Diagnostic and Interventional Nephrology, vascular access measures will be added to the registry for 2016. The registry and the analytics platform is a tier of software operating above your practice management system and EHR and, if data can be obtained, it can span all the locations in which nephrologists provide care.


Assuntos
Confiabilidade dos Dados , Nefrologia , Sistema de Registros , Humanos , Nefropatias/terapia
10.
J Org Chem ; 78(12): 6309-15, 2013 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-23734834

RESUMO

A modified protocol has been identified for Pd-catalyzed intermolecular aminoacetoxylation of terminal and internal alkenes that enables the alkene to be used as the limiting reagent. The results prompt a reassessment of the stereochemical course of these reactions. X-ray crystallographic characterization of two of the products, together with isotopic labeling studies, show that the amidopalladation step switches from a cis-selective process under aerobic conditions to a trans-selective process in the presence of diacetoxyiodobenzene.


Assuntos
Alcenos/química , Iodobenzenos/química , Paládio/química , Catálise , Cristalografia por Raios X , Deutério , Marcação por Isótopo , Estrutura Molecular , Oxigênio/química , Estereoisomerismo
13.
Environ Int ; 146: 106201, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33129000

RESUMO

Elevated blood pressure in childhood is an important risk factor for hypertension in adulthood. Environmental exposures have been associated with elevated blood pressure over the life course and exposure to mercury (Hg) has been linked to cardiovascular effects in adults. As subclinical vascular changes begin early in life, Hg may play a role in altered blood pressure in children. However, the evidence linking early life Hg exposure to altered blood pressure in childhood has been largely inconsistent. In the ongoing New Hampshire Birth Cohort Study, we investigated prenatal and childhood Hg exposure at multiple time points and associations with blood pressure measurements in 395 young children (mean age 5.5 years, SD 0.4). Hg exposure was measured in children's toenail clippings at age 3 and in urine at age 5-6 years, as well as in maternal toenail samples collected at ∼28 weeks gestation and 6 weeks postpartum, the latter two samples reflecting early prenatal and mid-gestation exposures, respectively. Five measurements of systolic blood pressure (SBP), diastolic blood pressure (DBP) and mean arterial pressure (MAP) were averaged for each child using a standardized technique. In covariate-adjusted linear regression analyses, we observed that a 0.1 µg/g increase in child toenail Hg at age 3 or a 0.1 µg/L urine Hg at age 5-6 were individually associated with greater DBP (toenail ß: 0.53 mmHg; 95% CI: -0.02, 1.07; urine ß: 0.48 mmHg; 95% CI: 0.10, 0.86) and MAP (toenail ß: 0.67 mmHg; 95% CI: 0.002, 1.33; urine ß: 0.55 mmHg; 95% CI: 0.10, 1.01). Neither early prenatal nor mid-gestation Hg exposure, as measured by maternal toenails, were related to any changes to child BP. Simultaneous inclusion of both child urine Hg and child toenail Hg in models suggested a potentially stronger relationship of urine Hg at age 5-6 with DBP and MAP, as compared to toenail Hg at age 3. Our findings suggest that Hg exposure during childhood is associated with alterations in BP. Childhood may be an important window of opportunity to reduce the impacts of Hg exposure on children's blood pressure, and in turn, long-term health.


Assuntos
Hipertensão , Mercúrio , Efeitos Tardios da Exposição Pré-Natal , Adulto , Pressão Sanguínea , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Hipertensão/induzido quimicamente , Mercúrio/toxicidade , New Hampshire , Gravidez
14.
Sci Rep ; 11(1): 3179, 2021 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-33542400

RESUMO

The coronavirus disease 2019 (COVID-19) pandemic caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has infected millions and killed more than 1.7 million people worldwide as of December 2020. Healthcare providers are at increased risk of infection when caring for patients with COVID-19. The mechanism of transmission of SARS-CoV-2 is beginning to emerge as airborne spread in addition to direct droplet and indirect contact as main routes of transmission. Here, we report on the design, construction, and testing of the BADGER (Box for Aerosol and Droplet Guarding and Evacuation in Respiratory Infection), an affordable, scalable device that contains droplets and aerosol particles, thus minimizing the risk of infection to healthcare providers. A semi-sealed environment is created inside the BADGER, which is placed over the head of the patient and maintains at least 12-air changes per hour using in-wall vacuum suction. Multiple hand-ports enable healthcare providers to perform essential tasks on a patient's airway and head. Overall, the BADGER has the potential to contain large droplets and small airborne particles as demonstrated by simulated qualitative and quantitative assessments to provide an additional layer of protection for healthcare providers treating COVID-19 and future respiratory contagions.


Assuntos
COVID-19 , Transmissão de Doença Infecciosa do Paciente para o Profissional/prevenção & controle , Equipamentos de Proteção , Aerossóis , COVID-19/prevenção & controle , COVID-19/transmissão , Humanos
15.
Acad Pediatr ; 20(7): 1037-1040, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32437882

RESUMO

Parents of children with medical complexity can serve as family-faculty in undergraduate medical education. Medical students can learn about family-centered care through structured interviews, reflective writing, and classroom discussions with family-faculty.


Assuntos
Educação de Graduação em Medicina , Estudantes de Medicina , Criança , Currículo , Empatia , Docentes , Humanos , Assistência Centrada no Paciente
16.
Saudi J Anaesth ; 13(4): 359-361, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31572083

RESUMO

Electrical storm (ES) is a potentially lethal syndrome defined as three or more sustained episodes of ventricular tachycardia or ventricular fibrillation within 24 h. There are multiple inciting factors for ES, one of which involves excess catecholamine (endogenous and exogenous) effects. Exogenous catecholamines used for hemodynamic support can paradoxically engender or exacerbate an underling arrhythmia leading to ES. We report on an 63-year-old man who presented for repair of an ascending aortic dissection. After cardiopulmonary bypass separation assisted with high-dose epinephrine, ES developed requiring over 40 defibrillatory shocks. The epinephrine infusion was held and within 5 min, the ES self-terminated. ES in the context of cardiovascular surgery with the use of epinephrine for hemodynamic support has not be previously reported. Clinicians need to be cognizant of the seemingly paradoxical effect of epinephrine to induce ES. Initial ES treatment involves acute stabilization (treating or removing exacerbating factors (i.e., excess catecholamines)).

17.
Cardiol Res ; 10(1): 1-8, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30834053

RESUMO

BACKGROUND: The role of anesthesiologists has expanded from operating rooms to preoperative evaluation clinics. This role involves performing preoperative cardiovascular evaluation and optimization of patients before elective surgery, which can include ordering cardiac stress tests. We aimed to study the ordering patterns by anesthesiologists for preoperative cardiac stress tests, focusing on whether societal and institutional guidelines and recommendations were used. Choice of type of cardiac stress test was also examined. METHODS: A single center retrospective chart review from December 1, 2005 to May 31, 2015 was performed on 492 patients who had a cardiac stress test ordered by an anesthesiologist. Patients were categorized by indication for ordering the cardiac stress test based on societal practice guidelines, institutional guidelines or other relevant reasons at the time of patient encounter. Those "other" category cardiac stress tests were assessed for indication and evaluated by physician peer review to see if there was peer agreement for being appropriately ordered. Exercise electrocardiography (ECG) cardiac stress tests ordered were evaluated for appropriateness based on baseline resting ECG findings. Patients with left bundle branch block (LBBB) or right ventricular (RV) pacing were evaluated for appropriateness of proper cardiac stress test modality based on whether a pharmacological vasodilator cardiac stress test was ordered. RESULTS: Analysis of the cardiac stress tests ordered showed that 43% were ordered according to American College of Cardiology/American Heart Association guidelines, 29% were ordered according to institutional guidelines, and 28% were categorized as "other". Of the 28% "other" cardiac stress tests, 53% were in agreement for ordering by peer review. Sixty-four exercise ECG cardiac stress tests were ordered, of which 58% were appropriate based on having no baseline resting ECG abnormalities. Fifty-one patients were identified as having a resting ECG of LBBB or RV pacing of which 41% had an appropriate pharmacological vasodilator cardiac stress tests ordered. CONCLUSIONS: Anesthesiologists order most preoperative cardiac stress tests according to professional societal or institutional guidelines (72%), yet they are not always choosing the best modality of cardiac stress test. A significant portion of cardiac stress tests are ordered (28%) based on clinical judgment, likely due to the lack of guidelines and recommendations being all-encompassing on many commonly encountered preoperative patient situations.

19.
Am J Kidney Dis ; 52(6): 1096-103, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18951670

RESUMO

BACKGROUND: Urinary oxalate is a major risk factor for calcium oxalate stones. Marked hyperoxaluria arises from mutations in 2 separate loci, AGXT and GRHPR, the causes of primary hyperoxaluria (PH) types 1 (PH1) and 2 (PH2), respectively. Studies of null Slc26a6(-/-) mice have shown a phenotype of hyperoxaluria, hyperoxalemia, and calcium oxalate urolithiasis, leading to the hypothesis that SLC26A6 mutations may cause or modify hyperoxaluria in humans. STUDY DESIGN: Cross-sectional case-control. SETTING & PARTICIPANTS: Cases were recruited from the International Primary Hyperoxaluria Registry. Control DNA samples were from a pool of adult subjects who identified themselves as being in good health. PREDICTOR: PH1, PH2, and non-PH1/PH2 genotypes in cases. OUTCOMES & MEASURES: Homozygosity or compound heterozygosity for SLC26A6 variants. Functional expression of oxalate transport in Xenopus laevis oocytes. RESULTS: 80 PH1, 6 PH2, 8 non-PH1/PH2, and 96 control samples were available for SLC26A6 screening. A rare variant, c.487C-->T (p.Pro163Ser), was detected solely in 1 non-PH1/PH2 pedigree, but this variant failed to segregate with hyperoxaluria, and functional studies of oxalate transport in Xenopus oocytes showed no transport defect. No other rare variant was identified specifically in non-PH1/PH2. Six additional missense variants were detected in controls and cases. Of these, c.616G-->A (p.Val206Met) was most common (11%) and showed a 30% reduction in oxalate transport. To test p.Val206Met as a potential modifier of hyperoxaluria, we extended screening to PH1 and PH2. Heterozygosity for this variant did not affect plasma or urine oxalate levels in this population. LIMITATIONS: We did not have a sufficient number of cases to determine whether homozygosity for p.Val206Met might significantly affect urine oxalate. CONCLUSIONS: SLC26A6 was effectively ruled out as the disease gene in this non-PH1/PH2 cohort. Taken together, our studies are the first to identify and characterize SLC26A6 variants in patients with hyperoxaluria. Phenotypic and functional analysis excluded a significant effect of identified variants on oxalate excretion.


Assuntos
Oxalato de Cálcio , Hipercalciúria/genética , Proteínas de Membrana Transportadoras/genética , Mutação , Nefrolitíase/genética , Adolescente , Adulto , Oxalato de Cálcio/metabolismo , Estudos de Casos e Controles , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nefrolitíase/metabolismo , Linhagem , Fenótipo , Transportadores de Sulfato , Adulto Jovem
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