Results 31 to 40 of about 16,929 (179)

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Gradient washout and secondary nephrogenic diabetes insipidus after brain injury in an infant: a case report

Journal of Medical Case Reports, 2020
Background Disorders of water and sodium balance can occur after brain injury. Prolonged polyuria resulting from central diabetes insipidus and cerebral salt wasting complicated by gradient washout and a type of secondary nephrogenic diabetes insipidus ...
Nathan Chang, Karley Mariano, Lakshmi Ganesan, Holly Cooper, Kevin Kuo   +4 more
doaj   +1 more source

Thunderclap headache caused by a pituitary non-functioning tumour presenting as spontaneous pituitary apoplexy [PDF]

Romanian Journal of Neurology, 2009
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 Georgescu, Ioana Ilie, Florina Moldovan, Horatiu Stan, Silviu Albu, Ileana Duncea   +5 more
doaj   +1 more source

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

Delhi 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, Taru Dewan, Shashi Vashisht, Harshika Chawla, Renu Singhania, Kanika Kapoor, Abhijeet Saha   +6 more
doaj   +1 more source

Early Initiation of Adjuvant Therapy Following Pediatric Endoscopic Endonasal Surgery for Tumors

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective To evaluate complication rates of early adjuvant therapy initiation in pediatric patients with endoscopic endonasal resection for skull base tumors. Design Retrospective case series of pediatric patients (0–18 years old) with skull base tumors who underwent endoscopic endonasal resection between 2013 and 2023.
Heta Patel, Alan D. Workman, David K. Lerner, Phillip J. Storm, Jennifer E. Douglas, Nithin D. Adappa, James N. Palmer, Michael A. Kohanski   +7 more
wiley   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Diabetes insípida como forma de apresentação de leucemia mielóide aguda.

Acta Médica Portuguesa, 2004
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, Sara Leitão, Emília Cortesão, Ana Isabel Espadana, Rui M Santos, Armando Porto   +5 more
doaj   +1 more source

Nephrogenic Diabetes Insipidus [PDF]

, 2019
Body fluid homeostasis is essential for normal life. In the maintenance of water balance, the most important factor and regulated process is the excretory function of the kidneys. The kidneys are capable to compensate not only the daily fluctuations of water intake but also the consequences of fluid loss (respiration, perspiration, sweating, hemorrhage)
András, Balla, László, Hunyady
openaire   +2 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Gestational Diabetes Insipidus Associated with HELLP Syndrome: A Case Report

Case 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, Michael Chan, Mohamed Sheta, Precious Ramirez-Arao, Harmeet Gurm, Allan Tunkel, Noel Nivera   +6 more
doaj   +1 more source