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Disaccharidase Enzyme Deficiency in Adult Patients with Gas and Bloating.
Clin Transl Gastroenterol
January 2025
Division of Gastroenterology and Hepatology, Department of Internal Medicine, Wellstar Medical College of Georgia, Augusta University, Augusta, Georgia.
Introduction: Disaccharidases produced by the small intestinal brush border facilitate digestion of dietary carbohydrates. If deficient, they can cause carbohydrate malabsorption resulting in several abdominal symptoms. Our aim was to examine the prevalence of disaccharidase deficiency and correlate this with abdominal symptoms in adult patients with chronic abdominal symptoms.
View Article and Find Full Text PDFMaize drought protection by Azospirillum argentinense Az19 requires bacterial trehalose accumulation.
Appl Microbiol Biotechnol
December 2024
Facultad de Ciencias Agrarias, Universidad Nacional de Mar del Plata (UNMdP), Ruta Provincial 226 Km 73.5, B7620, Balcarce, Buenos Aires, Argentina.
Azospirillum argentinense Az19 is an osmotolerant plant growth-promoting bacterium that protects maize plants from drought. In this work, we explored the role of trehalose in the superior performance of Az19 under stress. The trehalase-coding gene treF was constitutively expressed in Az19 through a miniTn7 system.
View Article and Find Full Text PDFSevere Hypercalcemia in an Infant With Transient Disaccharidase Deficiency.
JCEM Case Rep
November 2024
Division of Pediatric Endocrinology and Diabetes, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA.
Article Synopsis
- An 11-month-old girl with a history of good health experienced growth failure, feeding issues, and irritability, which led to the discovery of severe hypercalcemia (high calcium levels in the blood).
- Despite initial improvement with hydration, her calcium levels rose again, and tests ruled out common causes while a biopsy showed low disaccharidase levels.
- Switching her to a disaccharide-free diet resolved her hypercalcemia, and follow-up testing indicated that her condition could have been a transient result of disaccharidase deficiency, with no known mechanism for the hypercalcemia identified.
The sucrose challenge symptoms test optimized for diagnosis of congenital sucrase isomaltase deficiency.
PLoS One
September 2024
QOL Medical LLC, Vero Beach, Florida, United States of America.
Background: Congenital sucrase isomaltase deficiency (CSID), an inherited carbohydrate malabsorption disorder, is difficult to diagnose because of overlapping symptoms with other gastrointestinal (GI) diseases. An at-home study was conducted in CSID and healthy adults to evaluate the diagnostic utility of self-reported GI symptoms following administration of a sucrose challenge.
Methods: This study investigated the optimum symptom scoring with a sucrose challenge symptoms test (SCST) for diagnosing CSID in 45 confirmed patients and 118 healthy controls.
Prevalence of Trehalase Enzymopathy Genetic Determinants in Siberian and Russian Far East Populations.
Dokl Biochem Biophys
December 2024
Research Center of Medical Genetics, Moscow, Russian Federation.
Unlabelled: To date, it has been established that the patient's genotype plays a significant role in the formation of trehalase enzymopathy: the level of enzyme activity decreases when the G→A allele replacement occurs in the rs2276064 locus of the TREH gene. To assess the prevalence of trehalase deficiency, extensive population-based studies are needed. Clinical observations show that the reduced activity of bowel trehalase is more common in the Arctic than in European populations.
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