Results 21 to 30 of about 6,050 (216)
Current evidence for a modulation of low back pain by human genetic variants [PDF]
, 2009 The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
Aberle +200 more
core +1 more source
Molecular and clinical studies in five index cases with novel mutations in the GLA gene [PDF]
, 2015 Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X ...
ALESSANDRO, Riccardo +11 more
core +1 more source
Congenital Insensitivity to Pain and Anhidrosis [PDF]
Archives of Plastic Surgery, 2016 Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy has five different clinical subtypes. Congenital insensitivity to pain and anhidrosis (CIPA) is HSAN type IV. CIPA is a rare disease with an autosomal recessive inheritance. Recurrent episodes of fever, no sweating, insensitivity to pain, and self-injury are symptoms of
Kyung Moo Yang +4 more
openaire +4 more sources
Heroin Adulterated with the Novel Synthetic Cannabinoid, 5F-MDMB-PINACA: A Case Series [PDF]
, 2020 Introduction: Heroin can be adulterated with various substances that may or may not have pharmacological effects. Here we report a case series of 8 patients who presented to the emergency department after overdose with intravenous heroin preparation ...
Arnold, Ryan +5 more
core
Dissecção da artéria carótida interna apresentando-se como cefaléia em salvas [PDF]
, 2008 Federal University of São Paulo Department of Neurology and NeurosurgeryHospital Israelita Albert Einstein Critical Care UnitUNIFESP, Department of Neurology and ...
Coelho, Fernando Morgadinho Santos +5 more
core +2 more sources
Orthostatic Hypotension, Anhidrosis, and Impotence [PDF]
Circulation, 1952 Anhidrosis and impotence occur frequently with idiopathic orthostatic hypotension. Two new cases of this syndrome, which occurs chiefly in males over 40 years of age, are herewith described. Postural vertigo and/or syncope, weakness, and anhidrosis or hypohidrosis are common symptoms, and a marked fall in systolic and diastolic blood pressure is noted ...
Robert J. Glaser +2 more
openaire +3 more sources
Meeting report: a hard look at the state of enamel research. [PDF]
, 2017 The Encouraging Novel Amelogenesis Models and Ex vivo cell Lines (ENAMEL) Development workshop was held on 23 June 2017 at the Bethesda headquarters of the National Institute of Dental and Craniofacial Research (NIDCR).
Bartlett, John D +13 more
core +1 more source
, 2006 Anhidrosis with emphasis on etiopathogenesis is reviewed in this paper. Anhidrosis, a non-sweating syndrome in horses, first reported in 1925, was mainly observed in temperate horses introduced into the hot humid environment.
Abdullah, Rasedee +2 more
core
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine [PDF]
, 2017 BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few ...
Fang, H. +8 more
core +1 more source
Congenital sensory neuropathy with anhidrosis. [PDF]
Archives of Disease in Childhood, 1968 We report aninfant inwhomcongenital insensitivity topainwasassociated withanhidrosis and delayed motorandmentaldevelopment. This condition wasdescribed bySwanson(1963) and called 'congenital insensitivity topainwithanhidrosis'.
H. M. Emrich +4 more
openaire +3 more sources