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A Veteran Presenting With Fatigue and Weakness.
Fed Pract
October 2024
Veterans Affairs Boston Healthcare System, West Roxbury, Massachusetts.
: A 65-year-old male veteran presented to the Veterans Affairs Boston Healthcare System (VABHS) emergency department with progressive fatigue, dyspnea on exertion, lightheadedness, and falls over the last month. New bilateral lower extremity numbness up to his knees developed in the week prior to admission and prompted him to seek care. Additional history included 2 episodes of transient loss of consciousness resulting in falls and a week of diarrhea, which had resolved.
View Article and Find Full Text PDFDistributive and Refractory Shock in Myxoedema Coma.
Cureus
December 2024
Intensive Care Unit, Hospital de Braga, Braga, PRT.
Myxoedema coma is a rare medical emergency, presenting even less commonly without sepsis and with the diagnosis of distributive shock. Reports of catecholamine-refractory shock are scarce. This report describes the case of a 54-year-old male, who presented to the emergency department with altered mental status.
View Article and Find Full Text PDFThe Development of Monoclonal Antibody Against Thyroid-Stimulating Hormone for Congenital Hypothyroidism Screening in Indonesia.
Monoclon Antib Immunodiagn Immunother
December 2024
Endocrinology Division, Department of Pediatrics of Saiful Anwar General Hospital, Universitas Brawijaya, Malang, Indonesia.
Congenital hypothyroidism (CH) is a major health issue that can lead to intellectual disability if not detected and treated earlier. The preliminary screening program for neonatal CH in Indonesia gave a provisional incidence of 1:2513. Newborn screening using a dried blood spot sample is the standard method for CH detection, but it has limitations.
View Article and Find Full Text PDFExpanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.
Clin Genet
December 2024
Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
SOFT syndrome (SOFTS) is an autosomal recessive disorder caused by biallelic POC1A variants, characterized by short stature, distinctive facial features, onychodysplasia, and hypotrichosis. To date, 21 pathogenic POC1A variants have been reported in 26 families. This study aims to broaden the phenotypic and genotypic spectrum of SOFTS with emphasis on the long-term effects of growth hormone (GH) therapy.
View Article and Find Full Text PDFJohanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.
Pediatr Radiol
January 2025
St. John's Medical College Hospital, Sarjapur Road, Koramangala, Karnataka, 560034, Bengaluru, India.
Johanson-Blizzard syndrome is a rare genetic disorder characterised by various systemic manifestations, including sensorineural hearing loss. We present a unique case of a 3.5-year-old girl with genetically confirmed Johanson-Blizzard syndrome, who exhibited typical features alongside rare radiological findings of cystic dilation of the cochlea and hypoplastic modiolus.
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