Results 61 to 70 of about 2,981 (206)

Late-onset Hypocalcemic Seizures: A Presenting Feature of Undiagnosed Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy - A Case Report

Indian Pediatrics Case Reports
Background: Hypocalcemic seizure is a well-known entity in infancy. However, late-onset hypocalcemic seizures are unusual and often point towards underlying endocrine or genetic disorders.
Kritika Goel, R. Selvakumar, Anil Soni, Bijoy Patra   +3 more
doaj   +1 more source

Fahr’s Syndrome With Neurocognitive Dysfunction Due to Hypoparathyroidism: A Case Report

Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.
Background: Fahr’s syndrome is a rare neurodegenerative condition characterized by bilateral progressive calcification of the basal ganglia and other brain structures. Due to overlapping symptoms, it can be misdiagnosed as other neurological disorders.
Faezeh Sehatpour, Shahrzad Mohseni, Mahnaz Pejman Sani, Kalyani Sen   +3 more
wiley   +1 more source

Pseudohypoparathyroidism : diagnosis and treatment

, 2011
Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of various hormones (primarily PTH) that activate cAMP-dependent pathways via Gsα protein.
G. Mantovani, Giovanna Mantovani
core   +1 more source

Genetic Landscape of Obesity in Children: Research Advances and Prospects

Journal of Obesity, Volume 2025, Issue 1, 2025.
Obesity is a chronic metabolic disease characterized by excessive accumulation or uneven distribution of fat in the body, which poses a serious threat to health. Obesity significantly increases the risk of developing сonditions such as type 2 diabetes, coronary heart disease, hypertension, obstructive sleep apnea, and some types of cancer.
Rita Khusainova, Ildar Minniakhmetov, Olga Vasyukova, Bulat Yalaev, Ramil Salakhov, Darya Kopytina, Raisat Guseinova, Ekaterina Dobreva, Galina Melnichenko, Ivan Dedov, Natalia Mokrysheva, Claire Stocker   +11 more
wiley   +1 more source

Short Root Anomaly and Transverse Hemimelia: A Rare Case Presentation

Clinical Case Reports, Volume 12, Issue 12, December 2024.
ABSTRACT A case of Short Root Anomaly (SRA), hypodontia and taurodontism with the associated finding of transverse hemimelia, is presented. Although there is no documented evidence of a link between SRA and hemimelia, the shared genetic, environmental and metabolic factors suggest the possibility of a common underlying mechanism.
Emmanuel Mazinis, Vasilios Thomaidis
wiley   +1 more source

Infantile Pseudohypoparathyroidism

, 2014
- A case of 35 day old infant is presented who had late onset seizure associated with hypocalcemia, hyperphosphatemia, and raised parathyroid hormone. The infant did not have any stigmata of pseudohypoparathyroidism.
P. Manoj Kumar Reddy, A. Prema, P. Paraman, Mahesh Inbasekaran, P. Karthikeyan   +4 more
core  

Transient neonatal pseudohypoparathyroidism

, 2007
Introduction Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by end organ unresponsiveness to parathormone (PTH), due to receptor or postreceptor defects. The characteristic biochemical disturbances include hypocalcaemia,
Sajić Silvija, Milos Jesic, Tomanović Mirjana, Silvija Sajic, Svetislav Necic, Maglajlić Svjetlana, Maja Jesic, Ješić Miloš, Necić Svetislav, Svjetlana Maglajlic, Mirjana Tomanovic, Ješić Maja   +11 more
core   +1 more source

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance

Frontiers in Endocrinology, 2019
Pseudohypoparathyroidism (PHP) is a rare endocrine disorder derived from the defective activation of the cAMP pathway by the parathyroid hormone secondary to GNAS molecular defects.
Francesca Marta Elli, Luisa de Sanctis, Bruno Madeo, Maria A. Maffini, Paolo Bordogna, Arianna Pirelli, Maura Arosio, Maura Arosio, Giovanna Mantovani, Giovanna Mantovani   +9 more
doaj   +1 more source

Gαs defines the fundamental coupling mechanism of insulin secretion

Journal of Diabetes Investigation, Volume 17, Issue 1, Page 9-11, January 2026.
Jun Shirakawa
wiley   +1 more source

NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing

Annals of Human Genetics, Volume 88, Issue 5, Page 392-398, September 2024.
Abstract Introduction Long‐read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5‐methylcytosine, nanopore is a promising technology to improve diagnostics of imprinting disorders. Methods Currently,
Caroline Hey Bækgaard, Emilie Boye Lester, Steffen Møller‐Larsen, Mathilde Faurholdt Lauridsen, Martin Jakob Larsen   +4 more
wiley   +1 more source