Results 41 to 50 of about 24,537 (326)

A review of photodiagnostic investigations over 26 years:experience of the National Scottish Photobiology Service (1989-2015) [PDF]

, 2017
Background The Scottish Photobiology Service is the national referral pathway for patients with cutaneous photosensitivity diseases in Scotland. We reviewed the pattern of diagnosis of photosensitivity diseases and investigations performed between 1989 ...
Dawe, Robert, Ibbotson, Sally, Moseley, Harry, Naasan, Hannah   +3 more
core   +3 more sources

Adverse reactions of amiodarone [PDF]

, 2019
Adverse drug reaction is defined by the World Health Organization as any response to a drug that is noxious and unintended and occurs at a dose normally used in man.
Calvosa, Leonardo, Ciacciarelli, Marco, Colunga Biancatelli, Ruben Ml, Congedo, Viviana, Iuliano, Luigi, Polidoro, Alessandro   +5 more
core   +1 more source

Adverse Effects of Trichothiodystrophy DNA Repair and Transcription Gene Abnormalities on Human Fetal Development [PDF]

, 2009
The effects of DNA repair and transcription genes in human prenatal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10^-6^) recessive disorder caused by mutations in genes involved in the nucleotide excision ...
Amiran Dzutsev, Caroline Signore, James L. Mills, James Troendle, Roxana Moslehi   +4 more
core   +2 more sources

A boy with bird-like facies and ataxia: Cockayne syndrome

Indian Journal of Paediatric Dermatology, 2018
Introduction: Congenital photosensitive disorders are a group disorders presenting with photosensitivity, short stature (SS), systemic manifestations and susceptibility to malignancy.
Vishalakshi S Pandit
doaj   +1 more source

Sun Protection Behaviours and Photosensitivity in Japanese Children: Toyama Adjunct Study of Japan Environment and Children’s Study (JECS)

Acta Dermato-Venereologica
Children have up to three3 times the annual sun exposure of adults. This cross-sectional study evaluated sun protection behaviorbehaviour, related factors, and the incidence of photosensitivity in Japanese children.
Megumi Mizawa, Kenta Matsumura, Teruhiko Makino, Akiko Tsuchida, Hidekuni Inadera, Tadamichi Shimizu   +5 more
doaj   +1 more source

Smoking associates with distinct clinical phenotypes in patients with systemic lupus erythematosus: a nationwide Danish cross-sectional study

Lupus Science and Medicine, 2021
Objectives SLE displays large clinical heterogeneity that beyond genetic factors may be determined by environmental exposures. In this Danish nationwide study, we aimed to determine if clinical subsets of SLE were associated with smoking history.Methods ...
Søren Jacobsen, Asta Linauskas, Salome Kristensen, Niels Steen Krogh, Lene Dreyer, Anne Troldborg, Anne Voss, Henrik Christian Bidstrup Leffers, Jesper Lindhardsen, Prabhat Kumar, Lars Juul, Bent Deleuran   +11 more
doaj   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]

, 2009
We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne, Funaki, Hirooka, Kruglyak, Lehmann, Lehmann, Mallery, Mayne, Nance, Reiss, Sato, Tan   +11 more
core   +3 more sources

Kindler′s syndrome: A tale of two siblings

Indian Journal of Dermatology, 2016
Kindler′s syndrome (KS) is a rare inherited skin disease characterized by acral blistering, photosensitivity, progressive poikiloderma, and cutaneous atrophy along with different types of mucosal involvement. We hereby report KS in two siblings. The case
Navya Handa, Dilip Kachhawa, Vinod Kumar Jain, Pankaj Rao, Anupam Das   +4 more
doaj   +1 more source

Failure to achieve lupus low disease activity state (LLDAS) six months after diagnosis is associated with early damage accrual in Caucasian patients with systemic lupus erythematosus [PDF]

, 2017
Background: The aim was to assess the attainability and outcome of the lupus low disease activity state (LLDAS) in the early stages of systemic lupus erythematosus (SLE).
CAPPELLAZZO, GIULIA, Cauli, Alberto, Chessa, Elisabetta, Congia, Mattia, Floris, Alberto, Mathieu, Alessandro, Piga, Matteo   +6 more
core   +1 more source