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Neonatal pseudo-hypoaldosteronism type 1 with a novel gene variant.
Sudan J Paediatr
January 2024
Department of Paediatrics, South West Acute Hospital, Enniskillen, UK.
Pseudohypoaldosteronism (PHA) is a rare disorder that mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis.
View Article and Find Full Text PDFObjective: Aim: The aim of the study was evaluation of the methionine-enkephalin in patients with severe COVID-19 with various activities of the renin-aldosterone system in comparison with COVID-19 patients with pre-existing comorbidities (renal cell cancer, critical limb ischemia) and adverse pregnancy outcomes..
Patients And Methods: Materials and Methods: To test our hypothesis, this case-control study consisted of 20 healthy donors (control group); 49 patients with a positive diagnosis of COVID-19 according to PCR analysis; 15 patients with a positive diagnosis of COVID-19 in combination with renal cell cancer; 29 patients with a positive diagnosis of COVID-19 in combination with critical limb ischemia, 10 pregnant womens with COVID-19.
Glucocorticoids and mineralocorticoids in hair: facilitating accurate diagnosis of adrenal-related endocrine disorders.
Front Endocrinol (Lausanne)
November 2024
Department of Biochemistry, Stellenbosch University, Stellenbosch, South Africa.
Article Synopsis
- A study was conducted to investigate the presence of mineralocorticoids and glucocorticoids, particularly focusing on aldosterone and 18-hydroxycorticosterone, in hair follicles, which has not been reported before.
- Hair samples from 15 healthy volunteers were analyzed using advanced extraction and mass spectrometry techniques, allowing for the detection of various steroids without significant differences between genders.
- Notable findings included the detection of deoxycortisol, deoxycorticosterone, and 18-hydroxycorticosterone for the first time in hair, showing variability in levels for some steroids but stability in others across individuals.
Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report.
Cureus
October 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
Early-onset Leigh syndrome is usually a genetically and phenotypically heterogeneous, severe, rapidly progressive mitochondrial disorder with a fatal outcome. Leigh syndrome is genetically heterogeneous as it is based on mutations in mtDNA or nDNA genes, which mostly encode subunits of respiratory chain complexes or assembly factors. It is phenotypically heterogeneous because it is genetically heterogeneous and due to the peculiarities of mitochondrial genetics.
View Article and Find Full Text PDFPrevalence of and factors associated with Na + /K + imbalances in a population of children hospitalized with febrile urinary tract infection.
Eur J Pediatr
December 2024
Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione Ca' Granda IRCCS, Policlinico Di Milano, Milan, Italy.
Article Synopsis
- Researchers looked at children in Italy who were hospitalized for a urinary infection and checked their sodium (Na) and potassium (K) levels.
- They found that 23% of the kids had low sodium, while some had high potassium or both low sodium and high potassium.
- The study also discovered that specific levels in the blood and age were linked to these imbalances, with the most common issue being low sodium.
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