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[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.
JCI Insight
December 2024
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Article Synopsis
- - Pseudohypoparathyroidism type 1B (PHP1B) is caused by epigenetic changes affecting the GNAS gene, leading to parathyroid hormone resistance, especially in kidney cells due to inhibited Gsα protein expression from the maternal allele.
- - Genetic defects in PHP1B patients include loss of methylation in specific regions and additional methylation issues in some, prompting researchers to identify the genetic basis for autosomal dominant PHP1B in families with complex GNAS methylation problems.
- - Genome sequencing highlighted small GNAS variants and a microdeletion in affected families that possibly alter AS transcript expression, leading to reduced NESP transcription, thus suggesting a mechanism behind PHP1B development.
Fahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.
Int J Mol Sci
October 2024
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710000, China.
Article Synopsis
- - Fahr's syndrome is a rare neurodegenerative disorder with under-explored oral manifestations; this study examines the dental features and genetic aspects using a specific patient case and literature review.
- - The examined patient exhibited several dental issues, including extra teeth, missing teeth, and enamel problems, but genetic testing did not identify known mutations linked to her conditions.
- - A review of previous cases revealed that patients with Fahr's syndrome and related disorders share common oral problems, suggesting that dental anomalies may be significant features in understanding these conditions.
Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating mutation.
Front Endocrinol (Lausanne)
October 2024
Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Article Synopsis
- This report investigates a family with familial isolated hypoparathyroidism (FIH), highlighting a specific mutation that leads to high levels of functionally inactive parathyroid hormone (PTH) in a 34-year-old woman and her siblings.* -
- The siblings were diagnosed with pseudohypoparathyroidism type 1b, characterized by chronic low calcium levels and elevated PTH, but without the typical features of related disorders.* -
- Treatment with teriparatide, a recombinant human PTH, successfully normalized calcium levels and improved wellbeing for the patient, indicating that inactive variants of PTH can lead to complex hypocalcemia cases.*
Pseudohypoparathyroidism leading to bilateral hip fracture: A case report.
Radiol Case Rep
November 2024
Department of Internal Medicine, Nishtar Medical University, Multan, Punjab, Pakistan.
Article Synopsis
- Pseudohypoparathyroidism (PHP) is a disorder where the body is resistant to parathyroid hormone, causing high PTH levels, low calcium, and high phosphate, leading to various health issues.
- The most common subtype, PHP type 1a, causes symptoms like short stature and electrolyte imbalances, which can result in conditions like seizures or fractures.
- A case study of a 22-year-old woman with PHP highlights her severe symptoms, diagnosis process, and treatment plan, including calcium and Vitamin D supplementation after managing her fractures.
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