Results 71 to 80 of about 43,107 (233)
Wolfram syndrome: case report [PDF]
Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders.
Chen, Jane +4 more
core +2 more sources
ABSTRACT Radiation therapy (RT) has emerged as a promising non‐surgical approach for treating canine adrenal tumours. This multi‐institutional, retrospective study describes clinical outcomes for 21 dogs having been prescribed a course of hypofractionated image‐guided intensity‐modulated RT (IMRT) entailing delivery of 25–35 Gy total in 5 fractions ...
Yen‐Hao Erik Lai +4 more
wiley +1 more source
Diabetes mellitus is a disease characterized by the excess of sugar in the blood and urine. The two most common types of diabetes are insulin-dependent diabetes mellitus and insulin-resistant diabetes mellitus, both presenting glycemic regulation-damage ...
Flávia Lúcia Abreu Rabelo +1 more
doaj
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders. [PDF]
Prohormone convertase 1/3, encoded by the PCSK1 gene, is a serine endoprotease that is involved in the processing of a variety of proneuropeptides and prohormones. Humans who are homozygous or compound heterozygous for loss-of-function mutations in PCSK1
core +2 more sources
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem +6 more
wiley +1 more source
Neurogenic diabetes insipidus presenting in a patient with subacute liver failure: a case report
Introduction To the best of our knowledge, this is the first report in the literature of development of neurogenic diabetes insipidus in a patient with subacute liver failure.
O'Beirne James +5 more
doaj +1 more source
Adipsic Diabetes Insipidus is a rare hypothalamic disorder characterized by a loss of thirst in response to hypernatraemia accompanied by diabetes insipidus.
Rinkoo Dalan +9 more
doaj +1 more source
Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency
ABSTRACT GABA‐transaminase (GABA‐T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the ABAT gene. We report a case of a newborn female born to a G10P5 mother, with abnormal fetal movements and polyhydramnios in ...
Deima Alammary +8 more
wiley +1 more source
Nanoparticle‐driven nose‐to‐brain drug delivery offers a noninvasive approach to bypass the blood–brain barrier (BBB) and directly modulate reactive astrocytes in CNS disorders. This review highlights biodegradable nanoparticles for astrocyte modulation, enhancing drug bioavailability, sustained release, and neuroinflammation control.
Senamile M. Dlamini +3 more
wiley +1 more source
An unusual case of intertrigo in an adult caused by purely cutaneous Langerhans cell histiocytosis [PDF]
We report a case of persistent intertrigo in an adult, eventually diagnosed as cutaneous Langerhans cell histiocytosis (LCH). It is known that LCH has a predilection for intertriginous areas, however purely cutaneous disease as in our case, is uncommon ...
Baldacchino, Godfrey +3 more
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