Results 51 to 60 of about 1,043,887 (211)
Diabetes insípida como forma de apresentação de leucemia mielóide aguda.
Central diabetes insipidus, is a syndrome characterized by the excretion of abnormally elevated volumes of diluted urine, due to the diminution of reabsorption of water in the collecting ducts, induced by the diminution of production of antidiuretic ...
Susana Calretas +5 more
doaj +1 more source
ABSTRACT Desmoplastic infantile ganglioglioma should be considered when an infant presents with a suprasellar mass, nystagmus, and developmental delay. Deep midline location limits resection, so BRAF V600E testing matters: it can open a targeted treatment option when surgery cannot control the disease.
Tawfiq Zuhair Abdullah Allaylah
wiley +1 more source
Targeted proteomics reveal histiocytosis‐associated neurodegeneration signatures
Abstract Neurodegeneration (ND) is a severe complication of Langerhans cell histiocytosis (LCH), yet its underlying biology and reliable biomarkers remain poorly defined. The aim of this study was to (1) gain insight into neuroimmunological mechanisms governing ND and (2) assess the clinical value of established and novel biomarkers for ND‐LCH.
Egle Kvedaraite +29 more
wiley +1 more source
Langerhans Cell Histiocytosis in Adults: A Canadian Multicenter Case Series
ABSTRACT Langerhans cell histiocytosis (LCH) is a rare clonal myeloid neoplasm. Canadian data on clinical characteristics, molecular profile, and treatment outcomes is limited. This study aims to report the initial experience of a Canadian rare diseases program, reflecting “real‐world” diagnostic pathways, referral patterns, and treatment heterogeneity
Stephanie Quon +7 more
wiley +1 more source
FGF-21 levels in polyuria-polydipsia syndrome
The pathomechanism of primary polydipsia is poorly understood. Recent animal data reported a connection between fibroblast growth factor 21 (FGF-21) and elevated fluid intake independently of hormonal control by the hormone arginine-vasopressin (AVP) and
Julie Refardt +8 more
doaj +1 more source
ABSTRACT Objective To compare iron phenotypes and questionnaire reports about menses, pregnancies, and live births in females with HFE p.C282Y (rs1800562) homozygosity (Y/Y) and HFE wt/wt (absence of p.C282Y and p.H63D (rs1799945) (wt/wt)). Methods We compared post‐screening iron phenotypes and questionnaire reports of self‐identified non‐Hispanic ...
James C. Barton +2 more
wiley +1 more source
Thunderclap headache caused by a pituitary non-functioning tumour presenting as spontaneous pituitary apoplexy [PDF]
Hemorrhagic or ischemic pituitary apoplexy is a rare neuro-endocrine emergency, potentially leading to coma. Neuro-ophthalmic symptoms or complications are amongst the most prevalent clinical features at onset, especially in previously asymptomatic ...
Carmen E. Georgescu +5 more
doaj +1 more source
Severe hypernatraemia (Na+ 192 mmol/L) secondary to adipsia was successfully managed through gradual sodium correction, close monitoring and assisted water supplementation in a dog with a pituitary macroadenoma. No neurologic complications occurred during correction, and serum sodium concentrations remained stable for 9 months. This case highlights the
Gyo‐Bin Choo +4 more
wiley +1 more source
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen +9 more
wiley +1 more source
Diabetes insipidus: The other diabetes
Diabetes insipidus (DI) is a hereditary or acquired condition which disrupts normal life of persons with the condition; disruption is due to increased thirst and passing of large volumes of urine, even at night. A systematic search of literature for DI was carried out using the PubMed database for the purpose of this review.
Sanjay Kalra +9 more
openaire +3 more sources

