Results 41 to 50 of about 43,107 (233)

Disturbances of sodium in critically ill adult neurologic patients: A clinical review [PDF]

, 2006
Disorders of sodium and water balance are common in critically ill adult neurologic patients. Normal aspects of sodium and water regulation are reviewed. The etiology of possible causes of sodium disturbance is discussed in both the general inpatient and
Crocker, M, Smith, M, Tisdall, M, Watkiss, J   +3 more
core  

Efficacy, safety, and relapse outcomes of MAPK inhibitors in pediatric Langerhans cell histiocytosis: A real‐world study

International Journal of Cancer, EarlyView.
What's new? Mitogen‐activated protein kinase (MAPK) inhibitors are promising treatments for pediatric Langerhans cell histiocytosis (LCH), a rare heterogeneous neoplasm that often affects multiple organ systems. Which MAPK inhibitors are most effective against LCH remains uncertain.
Xue Tang, Jing‐jing Sun, Zhi Wan, Xiao‐yu Jing, Xia Guo, Ju Gao   +5 more
wiley   +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

Altered agonist sensitivity of a mutant V2 receptor suggests a novel therapeutic strategy for nephrogenic diabetes insipidus. [PDF]

, 2014
Loss of function mutations of the type 2 vasopressin receptor (V2R) in kidney can lead to nephrogenic diabetes insipidus (NDI). We studied a previously described, but uncharacterized mutation of V2R (N321K missense mutation) of an NDI patient.
Balla, András, Erdélyi, László Sándor, Hunyady, László, Patócs, Attila, Tóth, Miklós, Várnai, Péter   +5 more
core   +1 more source

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

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

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

Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]

, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph, Hershey, Tamara, Marshall, Bess, Neyman, Olga, Park, Ki Yun, Rahn, Rachel, Samara, Ahmad, Samara, Amjad   +7 more
core   +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