Objectives: To determine the prevalence, correlates, and predictors of work disability (WD) in the Genetics versus ENvironment In Scleroderma Outcome Study (GENISOS). We hypothesized that WD in systemic sclerosis (SSc) is a function of demographic, clinical, and psychosocial factors. Methods: Patients enrolled in the GENISOS cohort were subdivided in 3 groups: work disabled, working, and retire...

SCC: squamous cell carcinoma WD: warty dyskeratoma INTRODUCTION Warty dyskeratoma (WD), also known as isolated Darier disease or focal acantholytic dyskeratosis, is a rare mucocutaneous lesion. It usually presents as a solitary, asymptomatic umbilicated papule, most often in the head and neck region of middleto older-age adults. A slight male predilection has been observed. When it occurs in th...

Diagnosis of Wilson's disease (WD) still remains a challenge since no single test has an accuracy of 100%. Molecular testing for ATP7B gene mutations can help reach the diagnosis when routine testing is equivocal. We herein report an asymptomatic WD patient diagnosed accidentally by genetic analysis. Th is case suggests that WD is a challenge even in particular contexts such as family screening...

• The Toshiba DynastronWD technology can extend dynamic range of a CMOS image sensor up to 96dB. It is a critical capability in today’s highly competitive camera phone market. Introduction There is explosive growth in the integration of cameras into mobile phones with consumers demanding both high pixel count and high image quality. To date, image sensor vendors have focused on delivering low-l...

BACKGROUND Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, which leads to the accumulation of this metal in liver, brain, cornea and kidney. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of thoracic kyphosis occurring in the setting of Wilson'disease and explore the possible association between the two dis...

AIM To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS We report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classification of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polyme...

Myosin heavy chain kinase (MHCK) A phosphorylates mapped sites at the C-terminal tail of Dictyostelium myosin II heavy chain, driving disassembly of myosin filaments both in vitro and in vivo. MHCK A is organized into three functional domains that include an N-terminal coiled-coil region, a central kinase catalytic domain unrelated to conventional protein kinases, and a WD repeat domain at the ...

BACKGROUND Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHODS All Latvian patients with clinically confirmed WD were screened for the most common mutation ...

Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidenc...

Portala, K. 2001. Psychopathology in Wilson’s Disease. Acta Universitatis Upsaliensis. Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1101. 61 pp. Uppsala. ISBN 91-554-5167-5. Wilson’s disease (WD), hepatolenticular degeneration, is an autosomal recessive disorder caused by mutations in the ATP7B gene, and is characterised by abnormal metabolism and deposition of ...