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The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders
Background and Aims: The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease. Methods: Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored. Results: One hundred three patients (52% girls), from 14 publications, were included....
Source: Journal of Pediatric Gastroenterology and Nutrition - May 1, 2022 Category: Gastroenterology Tags: Original Articles: Gastroenterology Source Type: research

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism
ABSTRACTThe metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation, homocysteine (Hcy) remethylation, or cobalamin and folate metabolism, in Hcy transsulfuration, and Cys and hydrogen sulfide (H2S) catabolism. These disorders may manifest between the newborn period and late adulthood by a combination of neuropsychiatric abnormalities, thromboembolism, megaloblastic anemia, hepatopathy, myopathy, ...
Source: Journal of Nutrition - October 1, 2020 Category: Nutrition Source Type: research

Cancers, Vol. 11, Pages 1300: Assessing Cachexia Acutely after Autologous Stem Cell Transplant
ncey Jose M. Garcia Autologous hematopoietic stem cell transplantation (AHCT) is an accepted strategy for various hematologic malignancies that can lead to functional impairment, fatigue, muscle wasting, and reduced quality of life (QOL). In cancer cachexia, these symptoms are associated with inflammation, hypermetabolism, and decreased anabolic hormones. The relative significance of these factors soon after AHCT setting is unclear. The purpose of this study was to characterize the acute effects of AHCT on physical function, body composition, QOL, energy expenditure, cytokines, and testosterone. Outcomes were assesse...
Source: Cancers - September 3, 2019 Category: Cancer & Oncology Authors: Lindsey J. Anderson Chelsea Yin Raul Burciaga Jonathan Lee Stephanie Crabtree Dorota Migula Kelsey Geiss-Wessel Haiming M. Liu Solomon A. Graf Thomas R. Chauncey Jose M. Garcia Tags: Article Source Type: research