Results 141 to 150 of about 51,591 (290)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Common spectral domain OCT and electrophysiological findings in different pattern dystrophies

, 2013
OBJECTIVES: (1) To investigate and integrate the tomographic, angiographic and electrodiagnostic findings in pattern dystrophy. (2) To correlate visual acuity (VA) with central macular thickness (CMT), the electrooculogram (EOG) and pattern ...
Stinghe, A., Shawkat, F., Hannan, S.R., Lotery, A. J., de Salvo, G.   +4 more
core   +1 more source

JAK Inhibitors in Psoriatic–Atopic Dermatitis Overlap: A Four‑Case Series

JEADV Clinical Practice, EarlyView.
ABSTRACT Overlap between psoriasis and atopic dermatitis (AD) poses diagnostic and therapeutic challenges; monoclonal antibodies targeting a single axis may improve one component while worsening the other [1]. Janus kinase (JAK) inhibitors act pleiotropically and may provide simultaneous control of psoriatic and eczematous inflammation [2].
Eleonora Bongiovanni, Francois Rosset, Isotta Giunipero di Corteranzo, Lorenzo Bellando, Rebecca Senetta, Simone Ribero, Pietro Quaglino   +6 more
wiley   +1 more source

Alopecia Areata in a Patient Receiving Cemiplimab for Metastatic Cutaneous Squamous Cell Carcinoma

JEADV Clinical Practice, EarlyView.
ABSTRACT Introduction Alopecia areata (AA) is an autoimmune disease characterized by non‐scarring hair loss of the scalp and/or body, with an unpredictable and variable clinical course. Its etiology is not entirely understood, although evidence suggests that environmental, immunological, and genetic factors contribute to disease development.
Marco Rubatto, Eleonora Bongiovanni, Veronica Arese, Michela Camilla Milanesio, Alessia Reali, Massimo Chiarpenello, Gianmauro Numico, Marcella Occelli   +7 more
wiley   +1 more source

A novel mutation in the RDS gene in an Italian family with pattern dystrophy

, 2005
The term ‘‘pattern dystrophy’’ (PD) of the retina refers to a group of inherited dystrophies characterised by deposition of abnormal pigment at the level of retinal pigment epithelium (RPE).1 Several studies have correlated PD with mutations in the
Garré C, ROSSI, Settimio, Marini V, Nesti A, Interlandi E, RINALDI, Michele, SIMONELLI, Francesca, Varano M, TESTA, Francesco   +8 more
core   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Dermatologic Best Practices for Manicures and Nail Care: A Systematic Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Manicure and pedicure procedures are widely viewed as benign cosmetic practices, yet emerging evidence links them to various dermatologic complications, including dermatitis, infection, photodamage and, in rare cases, cutaneous malignancy.
Nivetha Aravind, Olivia Burke, Brian W. Morrison   +2 more
wiley   +1 more source

A pattern recognition approach to Emery-Dreifuss muscular dystrophy (EDMD) study

, 2014
The algorithms of pattern recognition were used for differentiation between two forms of Emery-Dreifuss muscular dystrophy (EDMD), i.e. autosomal-dominant laminopathy (AD-EDMD) and Xlinked emerynopathy (X-EDMD).
Niebroj-Dobosz, I. M., Sokołowska, B., Jóźwik, A., Hausmanowa-Petrusewicz, I.   +3 more
core  

Nail Toxicities Associated With Anticancer Therapies in Children

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail toxicities are a frequent yet often underrecognized component of dermatologic adverse events in children receiving anticancer therapies. Both conventional cytotoxic chemotherapy and newer targeted agents can affect the nail matrix, nail bed and periungual tissues, producing a broad spectrum of clinical manifestations that range from ...
Luca Rapparini, Michela Starace
wiley   +1 more source

An uncommon variant of rare type of muscular dystrophy

, 2017
The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures ...
Somasekar, D. S., Santosh, K.V., V., Ashwath S., Gurucharan, Adoor, A., Jayashankar C., Perugu, Pavan Kumar   +5 more
core