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Background/purpose: Complications, such as postoperative pneumonia, can occur after pediatric cardiac surgery; however, studies on related changes in perioperative oral bacterial counts are scarce. Herein, we investigated the changes in oral bacterial counts before and after surgery in infants who underwent cardiac surgery, as well as after oral care using an antiseptic mouthwash.
Materials And Methods: A total of 102 infants who underwent congenital heart disease surgery were enrolled in this study.
Prenatally suspected and clinically diagnosed congenital chloride diarrhea.
Radiol Case Rep
March 2025
Dilla University, College of Medicine and Health Sciences, Department of Obstetrics and Gynecology, Dilla, Ethiopia.
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. Although prenatal diagnosis is ideal, many cases are identified postnatally. This case report details an 18-year-old primigravid lady in her third trimester who presented with severe polyhydramnios and fetal bowel dilation observed via ultrasound.
View Article and Find Full Text PDFSLC26A3 (DRA, the Congenital Chloride Diarrhea Gene): A Novel Therapeutic Target for Diarrheal Diseases.
Cell Mol Gastroenterol Hepatol
December 2024
- Division of Gastroenterology and Hepatology, Department of Medicine, University of Illinois, Chicago, IL, USA; - Jesse Brown VA Medical Center, Chicago, IL, USA. Electronic address:
Diarrhea associated with enteric infections, gut inflammation, and genetic defects poses a major health burden and results in significant morbidity and mortality. Impaired fluid and electrolyte absorption and/or secretion in the intestine are the hallmark of diarrhea. Electroneutral NaCl absorption in the mammalian GI tract involves the coupling of Na/H and Cl/HCO exchangers.
View Article and Find Full Text PDFCase report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFCase report: A complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia.
Front Vet Sci
November 2024
Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, São Paulo State University (Unesp), Botucatu, SP, Brazil.
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump. Additionally, myotonia of the upper lip muscles was observed upon manipulation.
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