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1.
Surgery ; 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38997864

RESUMO

BACKGROUND: Patients with cirrhosis have increased risk of perioperative complications, and surgical management of concomitant rectal prolapse poses a challenge in these patients. Given the paucity of data informing this, our study aimed to evaluate postoperative outcomes. METHODS: The National Surgical Quality Improvement Program database was queried for patients undergoing rectal prolapse repair from 2011 to 2019. Patients were stratified by cirrhosis (Model for End-Stage Liver Disease ≥10) and no cirrhosis. Bivariate and multivariable regression analyses were used to compare comorbidities, repair types, and identify predictors of postoperative outcomes. RESULTS: We identified 2,234 patients: 332 patients with cirrhosis (Model for End-Stage Liver Disease 14 [10-34]). Patients with cirrhosis were older (76 ± 12 years vs 69 ± 17, P < .001) with increased comorbidities (eg, heart failure, lung disease), greater mortality (3.6% vs 0.8%, P < .001), and complication rates compared with patients without cirrhosis. Readmission rates and longer hospital stays also were observed in patients with cirrhosis. A total of 52% of NCPs underwent abdominal repair compared with 62% of patients with cirrhosis who received perineal repair; greater complication rates were observed for abdominal repairs in both groups (patients without cirrhosis 11.4%, patients with cirrhosis 25%). Predictors of greater complication rates in patients with cirrhosis included abdominal repair (odds ratio 2.7, 95% confidence interval 1.4-5, P = .002) and presence of ascites (odds ratio 4.6, 95% confidence interval 1.1-20, P = .04). CONCLUSION: Overall, abdominal repairs have greater complication rates even when controlling for Model for End-Stage Liver Disease score and presence of ascites. The Delorme procedure had the lowest complication rates. Additional evidence is needed to recommend a preferred surgical approach to rectal prolapse repair in patients with cirrhosis.

2.
Circ Genom Precis Med ; 12(11): e002723, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31638829

RESUMO

BACKGROUND: The prevalence of familial hypercholesterolemia is 1 in 250, but <10% of patients are diagnosed. Cascade testing enables early detection of cases through systematic family tracing. Establishment of familial hypercholesterolemia cascade testing programs in the US could be informed by approaches used elsewhere. METHODS: We conducted a systematic review of published studies in the English language of cascade testing for familial hypercholesterolemia, which reported the number of index cases and number of relatives tested and specified methods of contacting relatives and testing modalities methods utilized. For each study, we calculated yield (proportion of relatives who test positive) and new cases per index case, to facilitate comparison. RESULTS: We identified 10 studies from the literature that met inclusion criteria; the mean number of probands and relatives per study was 242 and 826, respectively. The average yield was 44.76% with a range of 30% to 60.5%, and the mean new cases per index case was 1.65 with a range of 0.22 to 8.0. New cases per index case tended to be greater in studies that used direct contact versus indirect contact (2.06 versus 0.86), tested beyond first-degree relatives versus only first-degree relatives (3.65 versus 0.80), used active sample collection versus collection at clinic (4.11 versus 1.06), and utilized genetic testing versus biochemical testing (2.47 versus 0.42). CONCLUSIONS: New case detection in familial hypercholesterolemia cascade testing programs tended to be higher with direct contact of relatives, testing beyond first-degree relatives, in-home-based sample collection, and genetic testing. These findings should be helpful for establishing cascade testing programs in the United States.


Assuntos
Hiperlipoproteinemia Tipo II/genética , Apolipoproteínas B/genética , Testes Genéticos , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Mutação , Linhagem , Pró-Proteína Convertase 9/genética , Receptores de LDL/genética
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