Results 81 to 90 of about 268,123 (292)
Correlation of total cholesterol and protein in urine in patients with the nephrotic syndrome [PDF]
, 1980 The excretion of protein and cholesterol in 24 h urine was measured in 42 patients with the nephrotic syndrome.
Wallner, J. +2 more
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American Journal of Hematology, EarlyView.ABSTRACT Management of cerebral vasculopathy in sickle cell anemia (SCA) includes standard‐care, that is, chronic transfusion (CT) or hydroxyurea, and hematopoietic cell transplantation (HCT). DREPAGREFFE‐1 (December 2010/June 2013), a French multicenter trial, was the first prospective trial comparing standard‐care to match sibling donor (MSD)‐HCT in ...
Francoise Bernaudin +40 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Archives of Epilepsy, 2016 Some of childhood epileptic syndromes reminds immunological etiologies with their good response to immuno-therapy and histopathological findings. These syndromes, such as Rasmussen encephalitis, FIRES, West syndrome, and Landau-Kleffner syndrome each of ...
Demet KINAY, Pınar TEKTÜRK
doaj +1 more source
, 2016 Le carnet a pour objectif de présenter le projet de recherche FAM-WEST (2015-2018), financé par la Fondation des maladies rares. Il s'agit d'une recherche socio-anthropologique des savoirs par les familles des patients à propos d’une maladie rare, le ...
Fabienne Hejoaka
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Cell-mediated and humoral immunity in west syndrome [PDF]
, 1981 The immunological status of five children with West syndrome consequent to previous cerebral lesions was investigated. Three children had West syndrome and two were in transition from West to Lennox-Gastaut syndrome.
Terezinha C. B. Montelli +7 more
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Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Pristane (5 mL/kg) induced a robust systemic lupus erythematosus (SLE)‐like phenotype in Macaca fascicularis, marked by elevated antinuclear antibody (ANA) levels and systemic clinical, hematological, and biochemical changes. This model closely reflects human SLE and provides a translational platform for disease studies and therapeutic evaluation ...
Jonny Jonny +12 more
wiley +1 more source
The Anatomical Record, EarlyView.This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose +2 more
wiley +1 more source
The epidemiology of irritable bowel syndrome
, 2014 Caroline Canavan, Joe West, Timothy Card Division of Epidemiology and Public Health, University of Nottingham, Nottingham, UK Abstract: Irritable bowel syndrome (IBS) is a functional condition of the bowel that is diagnosed using clinical criteria. This
West J, Card T, Canavan C
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