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http://dx.doi.org/10.1590/s0004-282x2010000100028 | DOI Listing |
Metabolites
December 2024
IVF Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.
Thalassemia is an autosomal recessive hereditary chronic hemolytic anemia characterized by a partial or complete deficiency in the synthesis of alpha- or beta-globin chains, which are essential components of adult hemoglobin. Mutations in the globin genes lead to the production of unstable globin chains that precipitate within cells, causing hemolysis. This shortens the lifespan of mature red blood cells (RBCs) and results in the premature destruction of RBC precursors in the bone marrow.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Ministry of Health, Riyadh, Saudi Arabia.
Background: Klinefelter syndrome is considered one of the most common sex chromosome disorders affecting males. The presence of an extra X chromosome can alter the tendency to develop various cancers, including lymphomas. Lacrimal gland lymphoma is a disease of the elderly, with a median age of presentation of 70 years.
View Article and Find Full Text PDFFront Neurol
December 2024
Brain Rehabilitation Research Center, Malcom Randall Department of Veterans Affairs Medical Center, North Florida/South Georgia Veterans Health System, Gainesville, FL, United States.
Endocr Connect
December 2024
M Ruchala, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland.
Introduction And Objectives: Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of Magnetic Resonance Imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.
Patients And Methods: The present research was a single-center retrospective case-control study.
Cochlear Implants Int
December 2024
Department of ENT and Head & Neck Surgery, Seth GS Medical College & K.E.M. Hospital, Mumbai, India.
Introduction: Wolfram syndrome, a rare autosomal recessive disorder, is characterised by diabetes insipidus, juvenile diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Case Report: We present a case of a 21-year-old male diagnosed with Wolfram syndrome who underwent cochlear implantation due to progressive hearing loss. The patient first complained of bilateral hearing loss at the age of 8 years.
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