Results 91 to 100 of about 32,489 (314)
Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia [PDF]
The transgenic and knockout (KO) animals involving Fgf23 have been highly informative in defining novel aspects of mineral metabolism, but are limited by shortened lifespan, inability of spatial/temporal FGF23 control, and infertility of the global KO ...
Allen, Matthew R. +6 more
core +1 more source
Hyperkeratosis of (a) the footpads and (b) the nasal planum. ABSTRACT Background Canine leishmaniosis (CanL) due to Leishmania infantum remains common, and veterinarians do not always follow scientifically sound approaches for diagnosis, treatment and prevention. Objectives To provide consensus guidelines for diagnosis and evidence‐based guidelines for
Manolis N. Saridomichelakis +9 more
wiley +1 more source
Background There is no standardized approach to the management of JDM-associated calcinosis and its phenotypes. Current knowledge of treatment outcomes is confined to small series and case reports.
A. B. Orandi +5 more
doaj +1 more source
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs +10 more
wiley +1 more source
Unilateral Idiopathic Calcinosis Cutis: A Case Report
Calcinosis cutis is a rare disorder characterized by the deposition of calcium in the skin and subcutaneous tissue. Unilateral idiopathic calcinosis cutis has only rarely been reported in the literature.
Fahad Alsaif, Amr M. Abduljabbar
doaj +1 more source
Comparison of the Utility and Validity of Three Scoring Tools to Measure Skin Involvement in Patients With Juvenile Dermatomyositis [PDF]
OBJECTIVE: To compare the abbreviated Cutaneous Assessment Tool (CAT), Disease Activity Score (DAS), and Myositis Intention to Treat Activity Index (MITAX) and correlate them with the physician's 10-cm skin visual analog scale (VAS) in order to define ...
Almeida, B +9 more
core +1 more source
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Idiopathic Perimenopausal Dystrophic Calcinosis Cuits
Usual type of dystrophic calcinosis cutis is described in six females in the perimentopausal age group with the lesions in the hip region along with their clinical, biochemical, histological and radiological features.
Parthiban M +5 more
doaj
Tumoral calcinosis in the cervical spine: a case report and review of the literature
Background Tumoral calcinosis is rarely located in spine. A 55-year-old Japanese woman with cervical tumoral calcinosis is presented, along with a review of the literature relating to tumoral calcinosis in the spine. We discussed the etiology, diagnosis,
Rui Guo +6 more
doaj +1 more source
Coexistence of Localized and Systemic Juvenile Scleroderma: A Case Report and Review of Literature
ABSTRACT Juvenile scleroderma (JS) is a rare chronic connective tissue disorder characterized by progressive fibrosis of the skin and soft tissues with/without internal organ involvements. Scleroderma manifests itself in both systemic (SSc) and localized (LS) forms.
Aye Miremarati +4 more
wiley +1 more source

