Objective: To evaluate the role of serum enzymes for defining the pancreatic phenotype in Shwachman-Diamond syndrome (SDS), an inherited multisystem condition.
Study Design: Serum pancreatic trypsinogen and isoamylase were measured in 164 patients known or presumed to have SDS. The diagnosis was confirmed in 90 patients. Among 74 unconfirmed cases, 35 ("probable SDS") had hematologic dysfunction but lacked documented pancreatic dysfunction, whereas 39 patients ("improbable SDS") lacked both documented pancreatic and hematologic dysfunction. Classification and regression tree (CART) analysis was performed in 90 patients with SDS and 134 control patients to establish a rule for defining the pancreatic phenotype of SDS; the rule was then applied to the patients with unconfirmed diagnosis.
Results: In the control patients, serum trypsinogen showed little variation with age, whereas serum isoamylase values rose from birth on, attaining adult values by 3 years. For patients with SDS, serum trypsinogen values were low in young patients and tended to increase with age, whereas serum isoamylase values remained low at all ages. The CART rule combined results from both enzymes and classified the pancreatic phenotype in all but one SDS patient, who was <3 years of age. Excluding patients <3 years of age, CART identified the pancreatic phenotype in 82% and 7% of the "probable SDS" and "improbable SDS" cases, respectively.
Conclusions: Serum pancreatic enzymes are useful for determining the pancreatic phenotype and confirming the diagnosis of SDS.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1067/mpd.2002.125849 | DOI Listing |
Diabetol Int
January 2025
Department of Endocrinology, Metabolism and Nephrology, Graduate School of Medicine, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-Ku, Tokyo, 113-8603 Japan.
Type 2 diabetes (T2D) is a polygenic disease, and the development of animal models by selective breeding is crucial for understanding its etiology, pathophysiology, complications, and treatments. We recently developed a new T2D model, the Oikawa-Nagao (ON) mouse, by selectively breeding mice with inferior glucose tolerance [diabetes-prone (ON mouse DP®; ON-DP) strain] and superior glucose tolerance [diabetes-resistant (ON mouse DR®; ON-DR) strain] on a high-fat diet. ON-DP mice are predisposed to develop diabetes and obesity after being fed a high-fat diet, compared to ON-DR mice.
View Article and Find Full Text PDFBMC Cancer
January 2025
First Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital of Kunming Medical University, Kunming, China.
Pancreatic adenocarcinoma (PAAD) is a highly malignant tumor in the digestive system, with an increasing incidence and mortality rate globally. Recent genetic studies have revealed that the abnormal expression and functional dysregulation of various genes are involved in the occurrence and progression of pancreatic cancer. NIPA-like proteins (NIPAs) are expressed in a variety of cancer types, yet the role of NIPAL1 in cancer remains unclear.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Geriatric Medicine, the Affiliated Hospital of Guilin Medical University, Guilin, Guangxi, China.
Objective: To develop a predictive model for microvascular invasion (MVI) in hepatocellular carcinoma (HCC) through radiomics analysis, integrating data from both enhanced computed tomography (CT) and magnetic resonance imaging (MRI).
Methods: A retrospective analysis was conducted on 93 HCC patients who underwent partial hepatectomy. The gold standard for MVI was based on the histopathological diagnosis of the tissue.
Discov Oncol
January 2025
Department of Laboratory, the Second Hospital of Shanxi Medical University, No. 382, Wuyi Road, Taiyuan, 030001, Shanxi, People's Republic of China.
Background: Pancreatic cancer (PAC) has a complex tumor immune microenvironment, and currently, there is a lack of accurate personalized treatment. Establishing a novel consensus machine learning driven signature (CMLS) that offers a unique predictive model and possible treatment targets for this condition was the goal of this study.
Methods: This study integrated multiple omics data of PAC patients, applied ten clustering techniques and ten machine learning approaches to construct molecular subtypes for PAC, and created a new CMLS.
Life Metab
February 2025
New Cornerstone Science Laboratory, State Key Laboratory of Membrane Biology, Beijing Key Laboratory of Cardiometabolic Molecular Medicine, Institute of Molecular Medicine, National Biomedical Imaging Center, The Beijing Laboratory of Biomedical Imaging, Peking-Tsinghua Center for Life Sciences, School of Future Technology, Peking University, Beijing 100871, China.
Glucose-stimulated insulin release from pancreatic β-cells is critical for maintaining blood glucose homeostasis. An abrupt increase in blood glucose concentration evokes a rapid and transient rise in insulin secretion followed by a prolonged, slower phase. A diminished first phase is one of the earliest indicators of β-cell dysfunction in individuals predisposed to develop type 2 diabetes.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!