162 research outputs found

    Cystic fibrosis presenting as recurrent pancreatitis in a young child with a normal sweat test and pancreas divisum: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>Pancreatitis is a rare manifestation of cystic fibrosis (CF) and may rarely be the presenting symptom in adolescent or adult patients with CF. We report a case of a 4 year-old female who initially presented with recurrent pancreatitis, a normal sweat test, and a diagnosis of pancreas divisum. She was subsequently diagnosed with cystic fibrosis at the age of 6 years, despite normal growth and no pulmonary symptoms, after nasal potential difference measurements suggested possible CF and two known CF-causing mutations (ΔF508 and L997F) were detected.</p> <p>Case Presentation</p> <p>An otherwise healthy 4 year-old female developed chronic pancreatitis and was diagnosed with pancreas divisum. Sphincterotomy was performed without resolution of her pancreatitis. Sweat test was negative for cystic fibrosis, but measurement of nasal potential differences suggested possible cystic fibrosis. These results prompted extended Cystic Fibrosis Transmembrane Regulator Conductance (CFTR) mutational analysis that revealed a compound heterozygous mutation: ΔF508 and L997F.</p> <p>Conclusion</p> <p>CFTR mutations should be considered in cases of chronic or recurrent pancreatitis despite a negative sweat test and the presence of pancreas divisum. Children with CFTR mutations may present with recurrent pancreatitis, lacking any other signs or symptoms of cystic fibrosis. It is possible that the combination of pancreas divisum and abnormal CFTR function may contribute to the severity and frequency of recurrent pancreatitis.</p

    Pathways to Injury in Chronic Pancreatitis: Decoding the Role of the High-Risk SPINK1 N34S Haplotype Using Meta-Analysis

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    Background: The complex interactions between recurrent trypsin-mediated pancreatic injury, alcohol-associated pancreatic injury and SPINK1 polymorphisms in chronic pancreatitis (CP) are undefined. We hypothesize that CP occurs as a result of multiple pathological mechanisms (pathways) that are initiated by different metabolic or environmental factors (etiologies) and may be influenced differentially by downstream genetic risk factors. We tested this hypothesis by evaluating the differences in effect size of the high risk SPINK1 N34S haplotype on CP from multiple etiologies after combining clinical reports of SPINK1 N34S frequency using meta-analysis. Methods and Findings: The Pubmed and the Embase databases were reviewed. We studied 24 reports of SPINK1 N34S in CP (2,421 cases, 4,857 controls) using reported etiological factors as surrogates for pathways and multiple meta-analyses to determine the differential effects of SPINK1 N34S between alcoholic and non-alcoholic etiologies. Using estimates of between-study heterogeneity, we sub-classified our 24 studies into four specific clusters. We found that SPINK1 N34S is strongly associated with CP overall (OR 11.00; 95% CI: 7.59-15.93), but the effect of SPINK1 N34S in alcoholic CP (OR 4.98, 95% CI: 3.16-7.85) was significantly smaller than in idiopathic CP (OR 14.97, 95% C.I. = 9.09-24.67) or tropical CP (OR 19.15, 95% C.I. = 8.83-41.56). Studies analyzing familial CP showed very high heterogeneity suggestive of a complex etiology with an I2 = 80.95%. Conclusion: The small effect of SPINK1 N34S in alcoholic subjects suggests that CP is driven through a different pathway that is largely trypsin-independent. The results also suggest that large effect sizes of SPINK1 N34S in small candidate gene studies in CP may be related to a mixture of multiple etiologic pathways leading to the same clinical endpoint. © 2008 Aoun MD et al

    Religious Diversity and Conceptual Schemes: Critically Appraising Internalist Pluralism

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    Is a philosophical theory needed to ‘underwrite’ attitudes of toleration and respect in a multicultural and religiously diverse world? Many philosophers of religion have thought so, including Victoria Harrison. This article interrogates Harrison’s theory of internalist pluralism, which, though offering a welcome alternative to other theories, such as John Hick’s ‘pluralistic hypothesis’, nevertheless faces problems. Questioning the coherence of the theory’s account of how the existence of objects of worship can avoid being fully conceptual-scheme dependent, and raising doubts about its pretensions to promote interreligious harmony, I also critically discuss the common philosophical tendency to work with under-described and insufficiently analysed examples. What philosophy ought to be able to offer in relation to religious diversity, I propose, is attentiveness to nuances and particularities, thereby aiding religious understanding without the need for a general theory

    Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

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    Archaeological Investigations of the Northern Maya Highlands, Guatemala: Interaction and Development of Maya Civilization

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    Final report of the 1970-1974 research conducted in the Salama Valley, Baja Verapaz, and adjacent areas of the highlands of Guatemala. The volume presents the results of the first comprehensive study of northern highland preclassic occupation and cultural development in light of the question of highland-lowland interaction and its role in the growth of Maya civilization

    Hepatitis A Epidemics From Utility Sewage In Ocoee, Florida

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    The 1988-1989 hepatitis A epidemic in the Palms section of Ocm, Florida, followed sewage overflows and involved 39 cases and a fetal death. Of the 18 index cases (i.e., the first hepatitis illness in a household), each had a history of contact with sewagecontaminated stormwater and no other known contact with the infection. Illnesses varied from mild to severe; 20 people reported that diarrhea, abdominal pain, varying degrees of ascites, and other symptoms continued for 2 y after the initial illness. Health injuries up to 20 y of lost life, measured by CEA-Clinical Epidemiological Analysisw, were found. Public records of rainfall and sewage flows provide evidence of massive stormwater entry into the utility system, which periodically appears to have flushed sewage from the utility lift station into residential areas. © 1993 Taylor & Francis Group, LLC
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