Results 71 to 80 of about 239,747 (299)
Facemask use related skin manifestations and associated factors (N = 803).
, 2022 Facemask use related skin manifestations and associated factors (N = 803).
Shresta Chowdhury (12407377) +11 more
core +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Some skin manifestations in hypoparathyroidism [PDF]
Journal of Hygiene, 1947 A complex disease picture prevalent in this country has been traced (Spira, 1928) to the protracted ingestion of drinking water derived from the tap, and of food prepared in aluminium cooking utensils. No indication could at that time be given of the exact irritant, beyond stating that a mineral or metal seemed to be involved.
openaire +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Manifestações dermatológicas em pacientes portadores do vírus da imunodeficiência humana. [PDF]
, 2000 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Cunha, Vanessa Santos
core
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
, 2013 Cutaneous manifestations occur frequently in systemic lupus erythematosus (SLE) and are pathognomonic in subacute-cutaneous lupus erythematosus (SCLE) and chronic cutaneous lupus erythematosus (CCLE).
Morris, SD +3 more
core
Skin manifestations in pediatric obesity: A prospective cohort study
, 2022 Data on skin manifestations associated with pediatric obesity are limited. We conducted a prospective study to evaluate the association of pediatric obesity with skin dermatoses and dermatologic quality of life.
Jill Hamilton +11 more
core +1 more source
Cutaneous Manifestations in End-Stage Renal Disease (ESRD)
Qanun Medika: Jurnal Kedokteran Fakultas Kedokteran Universitas Muhammadiyah SurabayaSkin can reflect systemic conditions due to abnormalities in internal organs, including kidney disorders. Cutaneous manifestations are common in patients with end-stage renal disease (ESRD).
Amira Suryani Rahmatika +4 more
doaj +1 more source