Results 41 to 50 of about 3,018,067 (331)
Althea Medical Journal, 2021 Background: Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by a spectrum of clinical manifestations, immunological abnormalities, and varied laboratories results.
Hasti Savira Yudiana +2 more
doaj +1 more source
Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]
, 2015 Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo +7 more
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The reported use and effectiveness of Hypericum (St John’s wort) on affective symptoms in a depression self-help group [PDF]
, 2002 A recent meta-analysis suggested that Hypericum perforatum (St John’s wort) is an effective treatment for mild to moderate depression and may have a superior side-effect profile to some antidepressant drugs.
Baldwin, D.S. +4 more
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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 +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
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 +11 more
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Association of systemic lupus erythematosus clinical features with european population genetic substructure [PDF]
, 2011 Alonso-Perez, E., Suarez-Gestal, M., Calaza, M., Witte, T., Papasteriades, C., Marchini, M., Migliaresi, S., Kovacs, A., Ordi-Ros, J., Bijl, M., Santos, M.J., Ruzickova, S., Pullmann, R., Carreira, P., Skopouli, F.N., D'Alfonso, S., Sebastiani, G.D ...
Alonso Pérez, Elisa +8 more
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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 +11 more
doaj +1 more source
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 +4 more
doaj +1 more source
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 +5 more
core +1 more source