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Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.
Neurol Sci
February 2025
Physiology Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran.
Introduction: EAST/SeSAME syndrome is an ultra-rare disease characterized by seizures, epilepsy, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and arises due to deleterious variants disrupting the function of the KCNJ10 gene. In this study, we investigated the clinical symptoms and genetic cause of the disease in a 10-year-old Iranian girl who presented with neurological, hearing, and renal problems.
Methods: Magnetic resonance imaging (MRI), electroencephalography (EEG), and laboratory tests were performed to evaluate the clinical characteristics of the proband.
Patterns and factors associated with electrolyte abnormalities among patients with heart failure in Uganda.
BMC Cardiovasc Disord
November 2024
Department of Internal Medicine, Faculty of Clinical Medicine and Dentistry, Kampala International University, Ishaka, Bushenyi, Uganda.
Background: Electrolyte abnormalities (EAs) worsen the clinical course of patients with heart failure (HF). The patterns of EAs vary among patients with HF. This study investigated patterns and factors associated with EAs among patients with HF admitted to Hoima Regional Referral Hospital (HRRH) in western Uganda.
View Article and Find Full Text PDFSex differences in the adrenal circadian clock: a role for BMAL1 in the regulation of urinary aldosterone excretion and renal electrolyte balance in mice.
Am J Physiol Renal Physiol
January 2025
Department of Physiology and Aging, University of Florida, Gainesville, Florida, United States.
Brain and muscle ARNT-Like 1 (BMAL1) is a circadian clock transcription factor that regulates physiological functions. Male adrenal-specific () KO mice displayed blunted serum corticosterone rhythms, altered blood pressure rhythm, and altered timing of eating, but there is a lack of knowledge in females. This study investigates the role of adrenal BMAL1 in renal electrolyte handling and urinary aldosterone levels in response to low salt in male and female mice.
View Article and Find Full Text PDF[Disorders in plasmatic levels of potassium, magnesium, and calcium in elderly adults associated with colistin: time series].
Medicina (B Aires)
October 2024
Servicio de Clínica Médica, Hospital Dr. César Milstein, Buenos Aires, Argentina.
Article Synopsis
- The study investigates the effects of colistin on water and electrolyte balance in older hospitalized patients, finding significant disturbances.
- Out of 89 patients, 77.5% experienced hypokalemia, with factors like older age and longer treatment duration contributing to potassium decline, while 79.5% had magnesium issues.
- The findings indicate that electrolyte levels normalize 72 hours after stopping colistin, emphasizing the need for ongoing monitoring of electrolytes and kidney function during treatment.
Blood pressure alteration associated with abnormal body electrolyte and water balance in colitis mice.
Hypertens Res
November 2024
Department of Pharmacology, Faculty of Medicine, Kagawa University, 7610793, Kagawa, Japan.
Previous studies reported that there is an association between abnormal body fluid balance and prognosis in colitis patients. However, it remains to be clarified the effects of colitis on characteristics of body electrolytes or water content, including alternation in blood pressure. In this study, we examined the effects of colon injury on body water balance and blood pressure in the dextran sodium sulfate (DSS)-induced colitis mouse model.
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