Results 31 to 40 of about 15,911 (308)

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]

, 2011
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
Alberto Verrotti, CASTALDO, Rosa, FERRETTI, ALESSANDRO, Filomena Ianniello, Francesco Chiarelli, PAOLINO, MARIA CHIARA, PARISI, Pasquale, VILLA, MARIA PIA   +7 more
core   +2 more sources

UK experience of liver transplantation for erythropoietic protoporphyria [PDF]

, 2011
Erythropoietic protoporphyria (EPP) is characterised by excess production of free protoporphyrin from the bone marrow, most commonly due to deficiency of the enzyme ferrochelatase.
A Dobozy, A Fontanellas, A Herbert, AK Seth, AV Anstey, BM McGuire, Briget K. Gunson, D Samuel, DA Spiva, Darius F. Mirza, DJ Todd, DL Avner, DL Avner, EB Rand, ES Dellon, GH Elder, HJ Wijk van, J Neuberger, JH Meulen van der, JH Reichheld, Joanna K. Dowman, KD Do, KO Morton, L Meerman, MI Leonardi, Mike N. Badminton, MO Doss, Philip N. Newsome, QG Eichbaum, RB Freeman Jr, S Wahlin, S Wahlin, SA Holme, SD Whatley, TH Welling   +34 more
core   +3 more sources

Features of Visual Dysfunctions in Patients with Primary Hypothyroidism and Thyrotoxicosis

Oftalʹmologiâ, 2022
Purpose: to study the prevalence and nature of visual dysfunctions in patients with primary hypothyroidism and thyrotoxicosis.Material and methods.
V. G. Likhvantseva, V. N. Trubilin, E. V. Korosteleva, S. G. Kapkova, V. A. Vygodin   +4 more
doaj   +1 more source

Disclosure and adverse effects of complementary and alternative medicine used by hospitalized patients in the North East of England [PDF]

, 2012
Objectives: This study aimed to investigate the prevalence, disclosure and adverse effects of complementary and alternative medicine (CAM) use in hospitalised patients, and to explore the associations between patients’ perceived side-effects and relevant
Baqir, wasim, Bello, Nusirat, McGarry, Kenneth, Winit -Watjana, Win   +3 more
core   +2 more sources

Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias

eLife, 2016
Porphyrias are disorders of heme metabolism frequently characterized by extreme photosensitivity. This symptom results from accumulation of porphyrins, tetrapyrrole intermediates in heme biosynthesis that generate reactive oxygen species when exposed to ...
Bradford M Stubenhaus, John P Dustin, Emily R Neverett, Megan S Beaudry, Leanna E Nadeau, Ethan Burk-McCoy, Xinwen He, Bret J Pearson, Jason Pellettieri   +8 more
doaj   +1 more source

Clinical Manifestation and Hematologic Interpretation of Pediatric Systematic Lupus Erythematosus at Initial Presentation: 2-Years Observation

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, Reni Ghrahani, Adhi Kristianto Sugianli   +2 more
doaj   +1 more source

The Overlap between Headache and Epilepsy in the Light of Recent Advances in Medical Genetics [PDF]

, 2014
Not ...
A. Ferretti, PAOLINO, MARIA CHIARA, PARISI, Pasquale   +2 more
core   +1 more source

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

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, Domínguez, Anna, Ferrando, Juan, García-Veigas, Javier, Gómez-Flores, Minerva, Mir-Bonafé, José, Ocampo-Candiani, Jorge, Salas-Alanis, Julio C.   +7 more
core   +2 more sources

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