Results 41 to 50 of about 2,322 (168)

Fahr's Syndrome in a Young Adult Male: A Case of Seizure and Cognitive Decline Secondary to Hypoparathyroidism

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Fahr's syndrome is a rare neurological condition characterized by bilateral intracranial calcifications secondary to metabolic or endocrine abnormalities, most commonly hypoparathyroidism. This condition is distinct from Fahr's disease (primary familial brain calcification), which is genetically inherited.
Sarah Nisar, Hamza Mushtaq, Muhammad Haris Khan, Fatima Sajjad, Abdullah Afridi, Zaryab Bacha, Bibi Hafza, Kamil Ahmad Kamil   +7 more
wiley   +1 more source

The role of accessory proteins and co‐factors in regulation of melanocortin‐4 receptor signalling: An update

Journal of Neuroendocrinology, Volume 38, Issue 3, March 2026.
Abstract The melanocortin‐4 receptor (MC4R) is a G protein‐coupled receptor with an essential role in appetite suppression and energy homeostasis. Genetic mutations in the receptor and components of its signalling pathway that cause obesity in humans, dogs and rodent models have revealed important insights into how the receptor signals and what ...
Aqfan Jamaluddin, Alyce McClellan, Eleanor Raffan, Caroline M. Gorvin   +3 more
wiley   +1 more source

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

Incidental Diagnosis of Fahr's Disease Following Severe Traumatic Brain Injury: A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Fahr's disease is a rare idiopathic neurodegenerative disorder characterized by symmetrical calcifications in the basal ganglia and cerebellar dentate nuclei. Although it may present with diverse neuropsychiatric symptoms, a significant number of cases remain asymptomatic and are only identified incidentally through neuroimaging performed for ...
Hadi Ebrahimi, Ali Holakoo, Seyyed Ebrahim Hejazian, Hamed Ahmadian, Amir Hosein Zohrevand, Morteza Sharifzadeh   +5 more
wiley   +1 more source

Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female

International Medical Case Reports Journal, 2012
Pooja Raghavan,1 Charles M Katz21Department of Medicine, Mount Carmel Health, Columbus, OH, USA; 2Division of Endocrinology and Metabolism, Mount Carmel Health, Columbus, OH, USAAbstract: Pseudohypoparathyroidism is a rare disorder of calcium metabolism ...
Raghavan P, Katz CM
doaj  

Single‐Stage Bilateral Repair of Simultaneous Distal Triceps Tendon Ruptures in Patients With Long‐Term Anabolic Steroid Use: A Two‐Case Report

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Bilateral simultaneous distal triceps tendon ruptures are extremely rare, with only a few cases reported. This article presents two traumatic bilateral ruptures in middle‐aged men with a history of long‐term anabolic steroid use, a factor associated with tendon weakening.
Ewerton Lima, Gabriel Ferreira Santos Vasconcelos, Arthur Cardoso Paroneto, Leonardo Berto, Paulo Henrique Schmidt Lara, Paulo Santoro Belangero, Carlos Vicente Andreoli, Benno Ejnisman, Alberto Pochini, Shashank Kaushik   +9 more
wiley   +1 more source

Pseudohypoparathyroidism and Growth

, 2011
Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). There are two main subtypes of PHP, named as PHP types Ia and Ib and caused by genetic alterations within upstream of the GNAS locus. Heterozygous inactivating mutations within alpha subunit of the stimulatory
Duzcan, Füsun, Semiz, Serap
openaire   +4 more sources

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

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

Improving the diagnosis of hyperphagia in melanocortin‐4 receptor pathway diseases

Obesity, Volume 33, Issue 7, Page 1217-1231, July 2025.
Abstract Characteristics of hyperphagia include heightened and prolonged hunger, longer time to satiation, shorter duration of satiety, severe preoccupation with food (i.e., hyperphagic drive), abnormal food‐seeking behaviors, and distress or functional impairment when food is unavailable.
M. Jennifer Abuzzahab, Beatrice Dubern, Anthony P. Goldstone, Andrea M. Haqq, Steven B. Heymsfield, Jennifer L. Miller, Jesse Richards, Martin Wabitsch, Jack A. Yanovski   +8 more
wiley   +1 more source