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1.
J Ethn Subst Abuse ; 21(3): 773-792, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-32757884

RESUMO

This narrative literature review addresses grassroots interventions for alcohol use disorders as practiced in Mexican immigrant communities. These organic efforts are 24-hour AA groups, or anexos, fourth and fifth step AA groups, juramentos, and curanderismo. Literature was identified using PubMed and CINAHL and limited to works published from 2000 to 2018. In all, three publications on 24-hour groups were found, two on fourth and fifth step groups, four on juramentos, and one on curanderismo use. The review offers insight on their practices and concludes that the interventions' cultural resonance provides advantages over cultural competency AUDs programs developed in public health.


Assuntos
Alcoolismo , Emigrantes e Imigrantes , Alcoolismo/terapia , Competência Cultural , Humanos , México
2.
Med Teach ; 43(8): 889-893, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34078213

RESUMO

INTRODUCTION: Ongoing leadership development is essential for academic health center faculty members to respond to increasing environmental complexity. At the George Washington University School of Medicine and Health Sciences, an 8-month program, based on Conger's leadership development approach emphasizing conceptual understanding, skill building, feedback and personal growth was offered to mid-level faculty charged with developing educational programs, clinical services, and/or research initiatives. We studied how specific learning methods catering to different learning approaches contributed to improving leadership competencies. METHODS: Session and program evaluations, participant interviews, mentor surveys, and supervisor interviews were used for data collection. Themes were identified through open coding with use of constant comparative methods to help find patterns in the data. RESULTS: Readings and classroom modules provided a broadened, holistic understanding of leadership; role plays and action plans helped participants apply and practice leadership skills; self-assessments and feedback from peers and mentors provided specifics for focusing development efforts; and personal growth exercises provided opportunities to reflect and consider fresh perspectives. Anchoring learning methods around a real-time project led to improved leadership competencies and personal confidence as reported by participants, supervisors and mentors. CONCLUSION: A faculty leadership development program that integrates understanding, skill building, feedback and personal growth and connects multiple learning methods can provide the synergy to facilitate behavior change and organizational growth.


Assuntos
Docentes , Liderança , Docentes de Medicina , Retroalimentação , Humanos , Mentores , Grupo Associado , Desenvolvimento de Programas
3.
Community Ment Health J ; 55(3): 440-447, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30825072

RESUMO

While there are high rates of food insecurity among individuals with serious mental illnesses, and among African Americans, there is very little research on the ways African Americans in public-sector mental health services cope with food insecurity. This research paper presents qualitative data from a mixed methods study on the prevalence and management of food insecurity among African Americans using public sector mental health services. We interviewed 21 people about their everyday experiences of food insecurity and strategies they used to cope. While participants reported experiencing high levels of food insecurity, they also described the use of communal strategies to help them cope, including sharing food and cooking meals jointly, which seemed to reduce the negative effects of living with high levels of food insecurity as well as a serious mental illness. Policy innovations like communal gardens and kitchens provided through public mental health services may be particularly helpful.


Assuntos
Adaptação Psicológica , Negro ou Afro-Americano/psicologia , Serviços Comunitários de Saúde Mental , Abastecimento de Alimentos , Setor Público , Adolescente , Adulto , Idoso , District of Columbia/epidemiologia , Feminino , Humanos , Entrevistas como Assunto , Masculino , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Saúde Mental , Pessoa de Meia-Idade , Prevalência , Pesquisa Qualitativa , Adulto Jovem
4.
Psychiatr Serv ; 70(3): 184-190, 2019 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-30554560

RESUMO

OBJECTIVE: This study elicited factors that shaped treatment decision making for young adults and their key supporters after an initial hospitalization for psychosis to generate hypotheses about how to improve service engagement. METHODS: This prospective, longitudinal, ethnographic study (using home visits, interviews, and hospital-based fieldwork) asked what mattered to 18 young adults primarily from racial-ethnic minority groups and 19 of their self-identified key supporters (N=37) as they made decisions about treatment during the 12-week critical period after an initial hospitalization for psychosis. The analytical approach used inductive coding and constructivist grounded theory methods to analyze interview transcripts and field notes from home visits and generate hypotheses about key factors that seemed to affect treatment decision making. Factors were ranked in order of frequency across all participants (overall, young adults only, and key supporters only). RESULTS: Among the 37 total participants (young adults and key supporters), more than two-thirds were concerned with getting back to normal, the insufficient mental health care on offer, police involvement in their pathway to care, feeling worse, and needing help with repairing strained relationships. More than one-half were concerned with how young adults would be able to live independently in the future, paying for mental health care, distrusting mental health diagnoses, managing social pressure to use substances, feeling disempowered by hospitalization experiences, and managing transportation challenges. CONCLUSIONS: To better engage young adults with early psychosis in care, including those from racial-ethnic minority groups, there is a need to design services that address the specific concerns of their everyday lives in the context of the initial hospitalization and posthospitalization period.


Assuntos
Tomada de Decisões , Aceitação pelo Paciente de Cuidados de Saúde/etnologia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Transtornos Psicóticos/etnologia , Transtornos Psicóticos/psicologia , Aculturação , Adolescente , Feminino , Hospitalização , Humanos , Entrevistas como Assunto , Masculino , Grupos Minoritários , Estudos Prospectivos , Transtornos Psicóticos/terapia , Texas , Adulto Jovem
6.
J Med Radiat Sci ; 63(4): 209-216, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27910290

RESUMO

INTRODUCTION: In 2001, the Radiation Therapy Advisory Panel (RTAP) of the Australian Society of Medical Imaging and Radiation Therapy (ASMIRT) (formerly known as Australian Institute of Radiography) published a model for radiation therapist staffing in Australian radiation oncology departments. Between 2012-2013, the model was reviewed to ensure it reflected current radiation therapy practice, technology, and to facilitate forward planning of the radiation therapy workforce. METHOD: Twenty-four sites from all states participated and provided data on megavoltage simulation, planning and treatment delivery. For simulation and planning activity, the length of time to complete was collected against relevant Medicare Benefits Schedule (MBS) items. For treatment delivery, time to complete activities was collected against a common set of activities. Modelling assumptions are clearly identified in the methodology. RESULTS: A new model was developed retaining the essential model parameter of full-time equivalent (FTE) radiation therapists (RTs) per linear accelerator operating hour as in the 2001 model but based on contemporary practice and data. The model also includes significant refinements that improve the model's overall utility and flexibility for both workforce planning purposes and for individual services to use the model according to their own organisational needs and service delivery profiles. CONCLUSION: The ASMIRT believes that the 2014 RT staffing model provides the utility and flexibility for radiation oncology services to best plan RT staffing establishments according to their needs and reflecting the diversity between services and within the sector. It should also provide a robust and valid basis for governments and service planners to use as a guide in workforce planning into the future.


Assuntos
Gestão de Recursos Humanos/normas , Guias de Prática Clínica como Assunto , Radiologia , Radioterapia , Austrália , Radiologistas/estatística & dados numéricos , Radiologistas/provisão & distribuição , Radiologia/organização & administração , Radiologia/normas , Sociedades Médicas , Recursos Humanos
7.
Invest Ophthalmol Vis Sci ; 46(9): 3081-8, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16123405

RESUMO

PURPOSE: To test whether genes for drusen formation are independent of age-related macular degeneration (AMD) pathogenesis. METHODS: A genome-wide model-free linkage analysis was performed, using two semiquantitative drusen traits, size and type, on two sets of data: (1) 325 individuals (225 sib pairs) from the Beaver Dam Eye Study (BDES), and (2) 297 individuals (346 sib pairs) from the Family Age Related Maculopathy Study (FARMS). Apolipoprotein E (APOE) genotypes were used as a covariate in a multipoint sibpair analysis. RESULTS: The authors found evidence of linkage on 19q13.31 (D19S245), with size of drusen in both the BDES (P = 0.0287) and the FARMS (P = 0.0013; P = 0.0005, combined). In the BDES, type showed linkage evidence on 3p24.3 (D3S1768; P = 0.0189) and 3q25.1 (D3S2404; P = 0.0141); the linkage on 3p24.3 was also found with size (D3S1768; P = 0.0264). In the FARMS, size showed evidence of linkage at 5q33.3 (D5S820; P = 0.0021), 14q32.33 (D14S1007; P = 0.0013), and 16p13.13 (D16S2616; P = 0.0015) and type at 21q21.2 (D21S2052; P = 0.0070). For size in the FARMS, there was a small increase in P-value at marker D19S245 from 0.0044 to 0.0111, and from 0.0044 to 0.0064, when the epsilon4-carrier and the epsilon3-carrier genotype were the covariates, respectively. CONCLUSIONS: The results show that APOE effects may be mediated early in the progression of ARM to AMD and thus may not be detected by standard genome scans for more severe disease.


Assuntos
Predisposição Genética para Doença/genética , Drusas Retinianas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Apolipoproteínas E/genética , Mapeamento Cromossômico , Cromossomos Humanos/genética , Progressão da Doença , Feminino , Ligação Genética , Testes Genéticos , Genoma Humano , Genótipo , Humanos , Degeneração Macular/genética , Masculino , Pessoa de Meia-Idade , Fenótipo
8.
Obes Surg ; 15(4): 584-90, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15946444

RESUMO

BACKGROUND: Methemoglobinemia results from oxidation of ferrous to ferric iron in hemoglobin. In addition to a functional anemia, methhemoglobinemia causes the O2-binding affinity of the remaining O2 sites in the hemoglobin tetramer to increase; essentially shifting the oxyhemoglobin dissociation curve to the left and decreasing O2 delivery. Patients develop profound cyanosis unresponsive to O2 when methemoglobin (MHb) levels exceed 10%. It can be lethal if levels exceed 70%. Benzocaine 20% (Hurricaine) spray, commonly used in endoscopy (EGD) can cause methemoglobinemia. We report our experience. METHODS: Two patients out of >1,000 EGDs in 4 yrs developed methemoglobinemia. RESULTS: Patient 1: 34 F, BMI 46, open distal gastric bypass. Patient 2: 26 F, BMI 49, laparoscopic proximal gastric bypass. Both had nausea and vomiting from stomal stenosis requiring EGD for which benzocaine 20% spray was used. Severe cyanosis (despite pulse oximetry readings of 86% and 89%), dyspnea and tachycardia, were seen within 13 and 7 minutes. They were unresponsive to O2, despite being awake and conversant after complete reversal of sedatives. MHb levels were 35.6% and 18.8% (normal <1%). Patients dramatically improved after 1% methylene blue at 1-2 mg/kg IV over 5 minutes. MHb levels dropped to 2.3% and 0.8 % within 150 and 110 minutes. Neither patient had any evidence of pulmonary embolism or DVT or G6PD deficiency. CONCLUSION: Topical benzocaine 20% (Hurricaine) spray used in EGDs gets absorbed and can cause methemoglobinemia. Sprays should be limited to 1 second. Prompt treatment with 1% methylene blue IV can be life-saving.


Assuntos
Benzocaína/efeitos adversos , Derivação Gástrica/efeitos adversos , Metemoglobinemia/induzido quimicamente , Metemoglobinemia/terapia , Obesidade Mórbida/cirurgia , Administração Tópica , Adulto , Anestésicos Locais/efeitos adversos , Anestésicos Locais/uso terapêutico , Benzocaína/uso terapêutico , Índice de Massa Corporal , Terapia Combinada , Feminino , Seguimentos , Derivação Gástrica/métodos , Humanos , Infusões Intravenosas , Laparoscopia/efeitos adversos , Laparoscopia/métodos , Metemoglobinemia/fisiopatologia , Azul de Metileno/uso terapêutico , Obesidade Mórbida/diagnóstico , Oxigênio/uso terapêutico , Medição de Risco , Índice de Gravidade de Doença , Resultado do Tratamento
9.
Obes Surg ; 15(8): 1165-70, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16197791

RESUMO

BACKGROUND: Obesity, hypertension, smoking, and amphetamine diet pills increase the risk for renal cell carcinoma (RCC). Obesity causes a four-fold increase. We report our 11-year experience with RCC after bariatric operations. METHODS: 5 patients with RCC were identified out of 2,287 bariatric surgical patients since 1993 on retrospective chart review. RESULTS: 4 of the 5 patients were females. At time of their bariatric operation, patients were age 29-52 (43.4) years, weighed 109-158 (129.8) kg, and BMI was 43-60 (49.4). All tumors were incidentally discovered 8-66 (27.4) months postoperatively when the patients weighed 54-94 (71.4) kg, with BMI 21-34 (26.6). Preoperative renal ultrasound obtained within 3 months of the bariatric operation was normal in 4; the other did not have a preoperative study. The latter patient had a vertical banded gastroplasty 12 years before and the RCC was discovered 5 1/2 years later during work-up for a revision. 3 had a distal gastric bypass and 1 underwent adjustable gastric banding. 4 of the patients had a radical nephrectomy and 1 underwent a partial nephrectomy. Tumors were 2.0-8.7 (4.4) cm in size, and all were clear-cell RCC without vascular or extrarenal involvement. None has had recurrence at 3-67 (30.8) months follow-up. 1 patient died from a stroke 18 months later. CONCLUSION: Reversal of obesity following bariatric surgery does not eliminate risk for RCC. Preoperative and annual postoperative ultrasonography may be useful in identifying early stage RCC. Lesions that are not pure cysts must be evaluated with CT scans or MRI. Nephrectomy may be curative.


Assuntos
Cirurgia Bariátrica , Carcinoma de Células Renais/etiologia , Neoplasias Renais/etiologia , Obesidade Mórbida/cirurgia , Adulto , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/cirurgia , Feminino , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Nefrectomia , Obesidade Mórbida/complicações
10.
Obes Surg ; 15(2): 207-15; discussion 215, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15802063

RESUMO

BACKGROUND: We report an unusual complication after Lap-Band placement characterized by herniation of the anterior stomach through the band. METHODS: Group 1 - 105 patients: Operated elsewhere (prior to US FDA approval) and followed by us; perigastric technique was used in 74 and pars flaccida in 31. Group 2 - 218 patients: Operated by us since August 2001 using the pars flaccida approach only. 4 patients with this unusual problem were identified. RESULTS: Patients were all female, with age 37.5 (3343) yr, weight 143.7 (123-167) kg, and BMI 54 (45-65). Onset occurred at 9 (5-16) months, with weight loss: 38.5 (27-53) kg and %EWL 47.3 (31-54)%. All had sudden nausea, vomiting and epigastric abdominal pain that persisted despite emptying the band. None of these symptoms were related to a recent band adjustment. CT scan showed a paragastric Richter's hernia of the stomach underneath the band. At exploration, the band was in the normal location. 3 patients from Group 2 had Richter's hernia of the anterior stomach through the band; reduction of the stomach with closure of the defect was performed. One patient from group 1 had gangrene of the entrapped stomach, resulting in band removal and gastrectomy. CONCLUSION: Lap-Band patients with sudden nausea, vomiting and abdominal pain, when not relieved by emptying the band, should undergo a CT scan. If a traditional slippage is not confirmed, paragastric Richter's hernia of the stomach through the band should be suspected. Immediate exploration with reduction of the stomach and closure of the defect can salvage the stomach and the band. Gastro-gastric sutures must completely close the space underneath the band to prevent this complication.


Assuntos
Obstrução da Saída Gástrica/etiologia , Gastroplastia/efeitos adversos , Hérnia/etiologia , Laparoscopia/efeitos adversos , Obesidade Mórbida/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Adulto , Índice de Massa Corporal , Estudos de Coortes , Diagnóstico Precoce , Feminino , Seguimentos , Obstrução da Saída Gástrica/epidemiologia , Obstrução da Saída Gástrica/cirurgia , Gastroplastia/métodos , Hérnia/epidemiologia , Herniorrafia , Humanos , Incidência , Laparoscopia/métodos , Obesidade Mórbida/diagnóstico , Complicações Pós-Operatórias/diagnóstico por imagem , Prevenção Primária/métodos , Reoperação , Medição de Risco , Tomografia Computadorizada por Raios X
11.
Vet Clin Pathol ; 44(2): 194-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25727137

RESUMO

BACKGROUND: Established breed-specific reference intervals (RI) are an important tool for monitoring the health of horses. There is a lack of published work on breed-specific RI for Friesian horses. OBJECTIVES: The goal of this project was to determine hematologic and biochemical RI for Friesian horses residing in North America. METHODS: Strict inclusion and exclusion criteria were established for selection of reference subjects and for blood specimen collection and handling. Blood samples from 123 healthy, adult (range 3-18 years, median 8 years) Friesian horses of both sexes (70 mares, 45 geldings, and 8 stallions) were used to determine RI. Complete blood counts (CBC) and biochemistry profiles were performed on the Sysmex XT-2000iV hematology and Olympus AU400 biochemistry analyzers, respectively, at IDEXX Laboratories Inc. (Columbus, OH, USA). Results were analyzed using Reference Value Advisor. According to the guidelines of the ASVCP, nonparametric RI with 90% confidence intervals were determined. RESULTS: IDEXX equine RI are transferrable to Friesian horses for 30 of 36 analytes. Friesian-specific RI (medians) are recommended for the following variables: RBC 5.02-8.74 × 10(6) /µL (6.66), HCT 27-42% (34), HGB 9.0-14.3 g/dL (11.4), lactate dehydrogenase 299-866 U/L (493), direct bilirubin 0.3-0.7 mg/dL (0.5), and anion gap 7-18 mEq/L (12). CONCLUSIONS: The RI established in this study provide a useful baseline for the assessment of hematologic and biochemical data in Friesian horses residing in North America.


Assuntos
Contagem de Células Sanguíneas/veterinária , Análise Química do Sangue/veterinária , Cavalos/sangue , Envelhecimento , Animais , Análise Química do Sangue/normas , Feminino , Cavalos/genética , Masculino , América do Norte , Valores de Referência
12.
Obes Surg ; 13(2): 275-80, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12740138

RESUMO

BACKGROUND: European and Australian results with laparoscopic adjustable gastric banding (LAGB) using the Lap-Band (Inamed Health, Santa Barbara, CA) have been impressive, with over 100,000 procedures completed at this writing. However, prior to U.S. FDA approval in June 2001, U.S. patients had to travel out of the U.S. for this procedure. This study reports on a series of U.S. patients who requested off-shore referral for LAGB placement. METHODS: 105 U.S. patients were implanted with the Lap-Band System in Mexico by one surgeon in a private practice. 70% were implanted with the perigastric approach, while the final 30% were implanted using the pars flaccida approach. Routine postoperative visits, including band adjustments, were completed in a private U.S. clinic where medical staff performed frequent small adjustments as necessary to optimize results. Data were collected from concurrent and retrospective chart reviews and from telephone interviews. Summary statistics provided for baseline measures included mean +/- standard deviation. Postoperative measures of weight loss included mean +/- standard error. RESULTS: Weight loss results were comparable to international results: 61% EWL at 12 months (n=50), 75% EWL at 24 months (n=37), 72% EWL at 36 months (n=24), and 60% EWL at 48 months (n=7). There were few major complications. CONCLUSION: Attention to patient management is essential to success, and this study found that appropriately-managed U.S. LAGB patients can be as successful as their international counterparts. Frequent follow-up delivered by a bariatric team with easy access to band adjustments is essential.


Assuntos
Gastroplastia , Adulto , Feminino , Gastroplastia/métodos , Humanos , Laparoscopia , Masculino , Pessoa de Meia-Idade , Equipe de Assistência ao Paciente , Cuidados Pós-Operatórios , Encaminhamento e Consulta , Resultado do Tratamento
13.
Obes Surg ; 14(6): 811-22, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15318988

RESUMO

BACKGROUND: Life-threatening small bowel obstruction (SBO) after Roux-en-Y gastric bypass can present with surprisingly minimal laboratory and plain x-ray findings. Based on a 10-year (1994-2003) experience of 1,409 open distal gastric bypasses, we present clinical and radiological findings in 29 patients with unusual forms of bowel obstruction. METHODS: A retrospective chart review was conducted. A radiologist experienced in reviewing these in gastric bypass patients reviewed all computed tomography (CT) scans. RESULTS: CT findings: The normal appearance and 7 recurring patterns of small bowel obstruction were identified. These include: 1) intussusception, 2) internal hernia through Petersen's space, 3) through Petersen's space and the mesenteric defect at enteroenterostomy, 4) through the mesenteric defect from the entero-enterostomy, 5) isolated biliary limb obstruction, 6) segmental non-anastomotic ischemia, and 7) internal hernia through bands. CLINICAL FINDINGS: 1 had peritonitis, and 1 had free air on plain film. WBC count was normal in 20/27 patients (74%) including 5/6 (83%) with dead bowel. 9/14 patients (62%) had "non-specific" findings on x-rays. 7 of these had an internal hernia (2 with volvulus and 2 with dead bowel), 1 had biliopancreatic limb obstruction, and 1 had peritonitis. CONCLUSION: Patients with SBO after distal gastric bypass may present with vague complaints and confusing laboratory and non-specific findings on x-rays. Delayed diagnosis can have catastrophic consequences. CT imaging with oral and intravenous contrast can be life-saving, and should be obtained in all gastric bypass patients with abdominal pain, particularly when all other parameters seem "normal". Unexplained abdominal pain should prompt exploration.


Assuntos
Derivação Gástrica/efeitos adversos , Obstrução Intestinal/diagnóstico por imagem , Anastomose Cirúrgica , Hérnia Ventral/etiologia , Humanos , Obstrução Intestinal/etiologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
15.
Cardiology ; 97(4): 218-25, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12145478

RESUMO

After an initial safety study in 7 normal volunteers, a randomized double-blind comparison was made between 3,5-diiodothyropropionic acid (DITPA) and placebo in 19 patients with moderately severe congestive failure. In heart failure patients receiving the drug for 4 weeks, cardiac index was increased (p = 0.04) and systemic vascular resistance index was decreased (p = 0.02). Systolic cardiac function was unchanged but isovolumetric relaxation time was decreased significantly, suggesting improvement in diastolic function. Total serum cholesterol (p = 0.005) and triglycerides (p = 0.01) also were decreased significantly. DITPA could represent a useful new agent for treatment of congestive heart failure.


Assuntos
Di-Iodotironinas/uso terapêutico , Insuficiência Cardíaca/tratamento farmacológico , Propionatos/uso terapêutico , Hormônios Tireóideos/uso terapêutico , Adulto , HDL-Colesterol/sangue , HDL-Colesterol/efeitos dos fármacos , LDL-Colesterol/sangue , LDL-Colesterol/efeitos dos fármacos , Relação Dose-Resposta a Droga , Método Duplo-Cego , Insuficiência Cardíaca/sangue , Hemodinâmica/efeitos dos fármacos , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Hormônios Tireóideos/sangue , Tireotropina/sangue , Tireotropina/efeitos dos fármacos , Fatores de Tempo , Resultado do Tratamento , Função Ventricular Esquerda/efeitos dos fármacos
16.
J Am Soc Nephrol ; 14(7 Suppl 2): S195-201, 2003 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12819328

RESUMO

Diabetic nephropathy (DN), a major cause of ESRD, is undoubtedly multifactorial and is caused by environmental and genetic factors. To identify a genetic basis for DN susceptibility, we are collecting multiplex DN families in the Caucasian (CA) and African-American (AA) populations for whole genome scanning and candidate gene analysis. A candidate gene search of diabetic sibs discordantly affected, concordantly affected and concordantly unaffected for DN was performed with microsatellite markers in genomic regions suspected to harbor nephropathy susceptibility loci. Regions examined were at human chromosome 10p,10q (orthologous to the rat renal susceptibility Rf-1 locus), and at NPHS1 (nephrin), CD2AP, Wilms tumor (WT1), and NPHS2 (podocin) loci. Linkage analyses were conducted using model-free methods (SIBPAL, S.A.G.E.) for AA, CA, and the combined sample. Allele frequencies and the identity by descent sharing were estimated separately for AA and CA, and race was included as a covariate in the final linkage analysis. To date, we have collected 212 sib pairs from 46 CA and 50 AA families. The average age of diabetes onset was 46.8 yr versus 36.2 yr for CA and 39.5 yr versus 40.2 yr for AA, in males versus females respectively. Genotyping data were available for 106 sib pairs (43 CA, 63 AA) from 27 CA (44% male probands) and 38 AA families (43% male probands). Average AA and CA sibship size was 2.73. Singlepoint and multipoint linkage analyses indicate that marker D10S1654 on chromosome 10p is potentially linked to DN (CA only multipoint P = 4 x 10(-3)). Interestingly, the majority of the linkage evidence derives from the CA sib pairs. We are now adding sib pairs and increasing marker density on chromosome 10. We have excluded linkage with candidate regions for nephrin, CD2AP, WT1, and podocin in this sample. In conjunction with previous reports, our data support evidence for a DN susceptibility locus on chromosome 10.


Assuntos
Cromossomos Humanos Par 10 , Nefropatias Diabéticas/genética , Ligação Genética , Predisposição Genética para Doença , Falência Renal Crônica/genética , Idoso , Estudos de Coortes , Nefropatias Diabéticas/complicações , Progressão da Doença , Feminino , Marcadores Genéticos , Humanos , Falência Renal Crônica/etiologia , Testes de Função Renal , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Índice de Gravidade de Doença
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