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Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.
J Bone Miner Res
October 2024
Clinical Genetics, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, SE1 9RT, United Kingdom.
Article Synopsis
- Two patients of East African descent have been identified with a novel homozygous variant in the parathyroid hormone receptor type 1 (PTH1R), which is linked to Eiken syndrome features such as brachydactyly and skeletal abnormalities.
- Both patients showed parathyroid hormone resistance, resulting in low calcium and high phosphate levels, which initially pointed to pseudohypoparathyroidism, yet genetic testing confirmed a specific PTH1R mutation.
- Functional analysis revealed that both PTH1R variants caused increased basal cAMP signaling and reduced responsiveness to PTH and PTH-related peptide, indicating a disruption in PTH1R signaling pathways associated with their clinical symptoms.
A novel -Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism.
Clin Pediatr Endocrinol
January 2024
Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
We encountered a Chinese girl with pseudohypoparathyroidism type 1A (PHP1A) and her mother with pseudopseudohypoparathyroidism (PPHP). Sequencing analysis of -Gsα revealed a heterozygous c.212+2T>C variant (NM_000516.
View Article and Find Full Text PDFThe Diagnosis of Albright's Osteodystrophy in a Case With Respiratory Failure.
Cureus
February 2024
Internal Medicine, Centro Hospitalar Barreiro-Montijo, Barreiro, PRT.
Albright's hereditary osteodystrophy is a rare hereditary disease due to a mutation of the complex guanine nucleotide-binding protein, alpha-stimulating activity polypeptide. This condition is commonly associated with type 1A and 1C pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism due to resistance of parathyroid hormone. Patients present with specific characteristics such as brachydactyly, short stature, round facies, subcutaneous ossifications, developmental delay, and obesity, associated with hypocalcemia and hyperphosphatemia.
View Article and Find Full Text PDFAcute coronary syndrome with severe coronary calcification in a patient with pseudo-pseudohypoparathyroidism.
J Cardiol Cases
October 2023
Department of Cardiovascular Medicine, Fukushima Medical University, Fukushima, Japan.
Unlabelled: A 40-year-old female with a history of steroid therapy for juvenile rheumatoid arthritis was brought to our hospital because of chest pain. A diagnosis of non-ST elevation myocardial infarction was made, and emergency coronary angiography revealed stenotic lesions with severe calcification in the left anterior descending artery and the right coronary artery. Percutaneous coronary intervention with rotational atherectomy followed by a drug-coated balloon was performed to the lesion in the left anterior descending artery.
View Article and Find Full Text PDFCo-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Front Cell Dev Biol
August 2023
Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy.
Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases. In rare cases, two fully expressed imprinting disorders may coexist in the same patient.
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