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BACKGROUND & AIMS: Low-phospholipid-associated cholelithiasis (LPAC) syndrome, a rare genetic form of intrahepatic cholelithiasis in adults, is still poorly understood. We report the results of the largest-ever case-control study of patients with LPAC syndrome aiming to assess the prevalence, clinical features, and comorbidities of the disease. METHODS: We included all LPAC cases diagnosed between 2001 and 2016 in 11 French centres. Controls consisted of all patients who underwent a cholecystectomy for common gallstone disease in a single non-academic centre over 1 year. A logistic regression analysis was used to identify the clinical features associated with LPAC syndrome across several patient strata with increasing levels of diagnostic confidence. The ratio between the incident cases of LPAC syndrome and the total number of cholecystectomies for gallstones was used to assess the relative prevalence of the disease. RESULTS: In this study, 308 cases and 206 controls were included. LPAC syndrome accounted for 0.5-1.9% of all patients admitted with symptomatic gallstone disease. Age at first symptoms <40 years, absence of overweight, persistence of symptoms after cholecystectomy, intrahepatic micro- or macrolithiasis, common bile duct (CBD) lithiasis, and no history of cholecystitis were independently associated with LPAC diagnosis. ATP-binding cassette subfamily B member 4 (ABCB4) variants, present in 46% of cases, were associated with CBD lithiasis, chronic elevation of gamma-glutamyltransferase (GGT), and personal or family history of hepato-biliary cancer. CONCLUSIONS: In this case-control study, LPAC syndrome accounted for approximately 1% of symptomatic cholelithiasis in adults. In addition to pre-established diagnostic criteria, normal weight, CBD lithiasis, and no history of cholecystitis were significantly associated with the syndrome. ABCB4 gene variations in patients with LPAC were associated with CBD lithiasis, chronic cholestasis, and a personal or family history of hepato-biliary cancer. LAY SUMMARY: In the largest case-control study ever conducted in patients with LPAC syndrome, a rare genetic form of intrahepatic cholelithiasis in young adults, LPAC syndrome was found in approximately 1% of all patients admitted to the hospital for symptomatic gallstones and, in addition to the pre-established characteristics of the syndrome (age at first symptoms <40 years, recurrence of symptoms after cholecystectomy, and/or imaging evidence of intrahepatic microlithiasis), was associated with lower BMI, higher prevalence of common bile duct stones, and lower incidence of acute cholecystitis. ABCB4 gene variants, which were detected in about half of cases, were associated with common bile duct stones and a personal or family history of hepato-biliary cancer.
RESUMO
RATIONALE AND OBJECTIVES: To evaluate limited training of ICU physicians without knowledge of ultrasound in performing basic general ultrasonography. DESIGN AND SETTING: A prospective, observational, study conducted in a 14-bed MICU. PATIENTS: Seventy-seven critically ill patients (38 females) aged 64 +/- 16 years, with a SAPS II score of 47 +/- 21, 49 of whom (64%) were receiving mechanical ventilation. METHODS: After 8.5 h of training comprising a 2.5 h didactic course that included essential views of normal and pathologic conditions and three hands-on sessions of 2 h each, one of eight ICU residents and the radiologist on duty performed the same examination in a blind manner. The questions addressed concerned the presence of pleural effusion, intra-abdominal effusion, acute cholecystitis, intrahepatic biliary duct dilation, obstructive uropathy, chronic renal disease, and deep venous thrombosis. MEASUREMENTS AND MAIN RESULTS: The answers to 129 questions were analyzed. The possible presence of pleural effusion, and arguments for the presence of urinary tract obstruction and chronic renal insufficiency, were the questions most frequently addressed. Residents answered 84.4% of the questions correctly [Kappa: 0.66, CI 95% (0.32-1.12)]. Most of the discrepancies concerned small non-drainable pleural or abdominal effusions. For questions with a potential therapeutic impact, residents answered 95% of the questions correctly [Kappa 0.86, CI 95% (0.75-1.04)]. Residents completed the examination in 37 +/- 39 min compared with 296 +/- 487 min for the radiologists (P = 0.004). CONCLUSIONS: These results suggest that after brief focused training, intensive-care unit physicians without previous knowledge of ultrasonography can competently perform basic general ultrasonic examinations.