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BACKGROUND & AIMS: Shwachman syndrome is an inherited condition with multisystemic abnormalities, including exocrine pancreatic dysfunction. The aim of this study was to evaluate the occurrence and progression of features in a large cohort of patients. METHODS: Clinical records of 25 patients with Shwachman syndrome were reviewed. RESULTS: Mean birth weight (2.92 +/- 0.51 kg) was at the 25th percentile. However, by 6 months of age, mean heights and weights were less than the 5th percentile. After 6 months of age, growth velocity was normal. Severe fat maldigestion due to pancreatic insufficiency was present in early life (fecal fat, 26% +/- 17% of fat intake; age, < 2 years). Serial assessment of exocrine pancreatic function showed persistent deficits of enzyme secretion, but 45% of patients showed moderate age-related improvements leading to pancreatic sufficiency. Neutropenia was the most common hematologic abnormality (88%), but leukopenia, thrombocytopenia, and anemia were also frequently encountered. Patients with hypoplasia of all three bone marrow cellular lines (n = 11) had the worst prognosis; 5 patients died, 2 of sepsis and 3 of acute myelogenous leukemia. Other findings included hepatomegaly and/or abnormal liver function test results and skeletal abnormalities. CONCLUSIONS: A wide and varied spectrum of phenotypic abnormalities among patients with Shwachman syndrome is described. Pancreatic acinar dysfunction is an invariable abnormality. Patients with severe bone marrow involvement may have a guarded prognosis. (Gastroenterology 1996 Dec;111(6):1593-602) 相似文献
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Philippe Généreux Nicolo Piazza Maria C. Alu Tamim Nazif Rebecca T. Hahn Philippe Pibarot Jeroen J. Bax Jonathon A. Leipsic Philipp Blanke Eugene H. Blackstone Matthew T. Finn Samir Kapadia Axel Linke Michael J. Mack Raj Makkar Roxana Mehran Jeffrey J. Popma Martin B. Leon 《Journal of the American College of Cardiology》2021,77(21):2717-2746
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Sahar Mack Yves Flattet Philippe Bichard Jean Louis Frossard 《World journal of gastroenterology : WJG》2022,28(48):6867-6874
Autoimmune pancreatitis (AIP) is a type of immune-mediated pancreatitis subdivided into two subtypes, type 1 and type 2 AIP. Furthermore, type 1 AIP is considered to be the pancreatic manifestation of the immunoglobulin G4 (IgG4)-related disease. Nowadays, AIP is increasingly researched and recognized, although its diagnosis represents a challenge for several reasons: False positive ultrasound-guided cytological samples for a neoplastic process, difficult to interpret levels of IgG4, the absence of biological markers to diagnose type 2 AIP, and the challenging clinical identification of atypical forms. Furthermore, 60% and 78% of type 1 and type 2 AIP, respectively, are retrospectively diagnosed on surgical specimens of resected pancreas for suspected cancer. As distinguishing AIP from pancreatic ductal adenocarcinoma can be challenging, obtaining a definitive diagnosis can therefore prove difficult, since endoscopic ultrasound fine-needle aspiration or biopsy of the pancreas are suboptimal. This paper focuses on recent innovations in the management of AIP with regard to the use of artificial intelligence, new serum markers, and new therapeutic approaches, while it also outlines the current management recommendations. A better knowledge of AIP can reduce the recourse to surgery and avoid its overuse, although such an approach requires close collaboration between gastroenterologists, surgeons and radiologists. Better knowledge on AIP and IgG4-related disease remains necessary to diagnose and manage patients. 相似文献
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Janarthanan Sathananthan Dale J. Murdoch Brian R. Lindman Alan Zajarias Wael A. Jaber Paul Cremer David Wood Robert Moss Anson Cheung Jian Ye Rebecca T. Hahn Aaron Crowley Martin B. Leon Michael J. Mack John G. Webb 《JACC: Cardiovascular Interventions》2018,11(12):1154-1160
Objectives
The aim of this study was to assess the implications of concomitant tricuspid regurgitation (TR) in patients undergoing valve-in-valve (VIV) transcatheter aortic valve replacement.Background
Patients undergoing VIV transcatheter aortic valve replacement with concomitant TR may have worse outcomes, and optimal management remains undetermined.Methods
The multicenter PARTNER 2 (Placement of Aortic Transcatheter Valves) VIV trial enrolled patients with symptomatic degenerated surgical aortic bioprostheses who were at high risk for reoperation. Outcomes were assessed between patients with mild or no TR versus moderate or severe TR.Results
A total of 237 patients underwent VIV procedures (mean age 78.7 ± 10.8 years, mean Society of Thoracic Surgeons score 9.1 ± 4.8%). In this cohort, 162 patients (68.4%) had mild or no TR, and 75 patients (31.6%) had moderate or severe TR. Although there was no difference in New York Heart Association functional class III or IV symptomatic status (89.3% vs. 91.4%; p = 0.62) or moderate or severe right ventricular dysfunction (9.4% vs. 16.9%; p = 0.11), patients with moderate or severe TR were more likely to be at high surgical risk, with a Society of Thoracic Surgeons score of >8 (62.7% vs 46.9%; p = 0.02). There was no difference in a composite endpoint of death and rehospitalization between moderate or severe TR and mild or no TR, either at 30 days (10.7% vs. 9.9%; p = 0.85) or at 1-year follow-up (24.1% vs. 23.2%; p = 0.80). There was a significant reduction in overall moderate or severe TR from baseline at 30 days (31.1% vs. 21.1%; p = 0.002), which was sustained at 1-year follow-up (38.0% vs. 22.8%; p = 0.004).Conclusions
Despite higher predicted surgical risk, the presence of TR was not a predictor of long-term outcomes. Importantly, there was significant reduction in TR severity at both short- and long-term follow-up. In selected patients undergoing VIV transcatheter aortic valve replacement, it may be appropriate to conservatively manage concomitant TR. 相似文献100.
Height,skeletal maturation and adiposity in adolescents with high relative weight at one year of age
The relationship between adolescent obesity and both stature and skeletal maturation was examined within a population of urban black adolescents for whom growth data in early childhood were available. From a larger population of approximately 4400 boys and girls, the 6–8% demonstrating the heaviest weight for observed length at 12 months of age were followed up between 9 and 15 years of age.The children were divided into obese and non-obese groups on the basis of triceps skinfold thickness at the time of follow-up. Their earlier growth measurements, together with adolescent heights and skeletal ages, were then compared. Only the younger sample of obese males were found to have been significantly taller than their non-obese peers at seven years of age and at the time of follow-up during adolescence. The obese females had not been significantly taller than their non-obese peers at any age.Keeping chronological age as a covariate, the contribution of one year length, adolescent skeletal age, and adolescent adiposity to height in adolescence was examined by means of linear regression analyses.In agreement with earlier reports, these longitudinal data indicate a consistent but minimal height advantage for youngsters with early onset obesity when compared to their age and sex-matched non-obese peers. The height advantage can be parcelled out almost equally to differences in length by one year of age and to differences in rate of skeletal maturation during adolescence. In our analyses, adolescent skinfold thickness, as an index of degree of “overnutrition”, did not substitute for either of those variables or contribute more than a very small amount of additional information to the prediction of adolescent height. 相似文献