Results 51 to 60 of about 1,340,239 (214)

Inborn errors of immunity in children with neuroinflammation

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu   +5 more
wiley   +1 more source

Early tocilizumab and outcomes in acute necrotizing encephalopathy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Early tocilizumab and outcome in acute necrotising encephalopathy. Aim To evaluate the timing and safety of tocilizumab in acute necrotizing encephalopathy (ANE). Method This was a multicentre retrospective study evaluating outcomes (modified Rankin Scale [mRS]) in children with ANE treated with tocilizumab. A logistic regression model determined a cut‐
Velda X Han   +14 more
wiley   +1 more source

Gestational Diabetes Insipidus Associated with HELLP Syndrome: A Case Report

open access: yesCase Reports in Nephrology, 2012
Gestational diabetes insipidus is a rare, but well recognized, complication of pregnancy. It is related to excess vasopressinase enzyme activity which is metabolized in the liver. A high index of suspicion of gestational diabetes insipidus is required in
Renela Gambito   +6 more
doaj   +1 more source

Developmental Glaucoma with Central Diabetes Insipidus: A Case Report and Review of Literature

open access: yesDelhi Journal of Ophthalmology, 2016
Association of developmental glaucoma with diabetes insipidus is a rare condition with only single citation as a part of DIDMOAD syndrome. However it has never been previously reported as an association with isolated diabetes insipidus.
Piyush Kumar R Ramavat   +6 more
doaj   +1 more source

DIABETES INSIPIDUS [PDF]

open access: yesEndocrinology, 1918
n ...
openaire   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

open access: yesJournal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah   +8 more
wiley   +1 more source

Nephrogenic Diabetes Insipidus Secondary to Obstructive Uropathy – An Unusual Presentation- A Case Report [PDF]

open access: yes, 2016
Diabetes insipidus is a clinical condition, characterized by polyuria and polydipsia, that results from either insufficient production or end organ resistance to antidiuretic hormone (ADH).
Rahman, MD Azizur   +2 more
core   +1 more source

Acute Kidney Injury Remodels Hepatic Iron Handling and Depletes Glutathione Defense in the Mouse Liver

open access: yesComprehensive Physiology, Volume 16, Issue 6, December 2026.
Acute kidney injury recruits the liver into an IL‐6/STAT3 acute‐phase program whose iron‐withholding arm runs while glutathione defense collapses and tetrahydrobiopterin biosynthetic capacity falls; total hepatic iron decreases and ferrous‐reactive iron is unchanged.
Minghua Li   +6 more
wiley   +1 more source

A Rare Cause of Diabetes Insipidus in Children: Langerhansian Histiocytosis

open access: yes, 2020
Diabetes insipidus is a disease in which large volumes of dilute urine (polyuria) are excreted, We report the observation of a 2-year-old child who presents with stagnation in weight with polyuria polydipsia of diabetes insipidus, the cause of which is ...
Aggouri, Mohamed   +3 more
core   +1 more source

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