Results 61 to 70 of about 16,109 (164)
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2019 Introduction Carvajal syndrome is characterized by woolly hair, striated palmoplantar keratoderma and left-sided ventricular cardiomyopathy. It is inherited as an autosomal recessive disorder due to a homozygous mutation in the gene coding for desmoplakin, which truncates the C-terminal of the protein and maps to chromosome 6p24. Signs and symptoms of
Dr. Colby Haines +3 more
openaire +1 more source
Arrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management
Journal of Cardiovascular Electrophysiology, Volume 36, Issue 10, Page 2662-2670, October 2025.To improve arrhythmogenic cardiomyopathy (ACM) patient care four pillars of ACM research are necessary. The first pillar to improve ACM is cohort studies in which the genotype‐specific natural history of disease is described, and subsequently genotype‐specific risk calculators can be developed, such as the DSP and PLN risk calculators.
Steven A. Muller +13 more
wiley +1 more source
Temporomandibular joint arthrocentesis. Review of the literature [PDF]
, 2012 The treatment of the temporomandibular joint (TMJ) is still controversial. TMJ arthrocentesis represents a form of minimally invasive surgical treatment in patients suffering from internal derangement of the TMJ, especially closed lock.
González García, R. +2 more
core +1 more source
Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]
, 2020 BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard +10 more
core
The Psychological, Cognitive, and Behavioural Effects of Starvation in Humans: A Scoping Review
European Eating Disorders Review, Volume 33, Issue 4, Page 666-690, July 2025.ABSTRACT Background Research has highlighted the physical complications of starvation, but there is less research examining the psychological effects of starvation in humans. Aims This scoping review synthesises literature on the non‐physical effects of starvation in humans.
Wendy Spettigue +8 more
wiley +1 more source
Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options
Molecular Genetics &Genomic Medicine, Volume 13, Issue 7, July 2025.Pediatric cardiomyopathies are rare, heterogeneous, and challenging conditions, often with a genetic etiology. We estimated the yield of genetic testing in a pediatric cohort with cardiomyopathies and evaluated the potential candidacy to current or emerging treatments based on genetic results. Over one‐third had a conclusive genetic test, including 25%
Adelaide Ballerini +12 more
wiley +1 more source
Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain [PDF]
, 2015 This is an open access article distributed under the Creative Commons Attribution License.-- et al.Fragile X syndrome is the most common inherited form of intellectual disability.
Ayuso, Carmen +4 more
core +1 more source
Respirology Case Reports, Volume 13, Issue 7, July 2025.We describe two cases of biopsy‐proven secondary OP in ocrelizumab‐treated MS patients occurring several weeks after contracting COVID‐19 infection. These patients had been on ocrelizumab for 6.5 years (latent period) before the development of OP. Withdrawal of ocrelizumab and corticosteroids resulted in clinical and radiographic recovery.
Tarake M. Aljarod +1 more
wiley +1 more source
The FEBS Journal, Volume 292, Issue 13, Page 3449-3476, July 2025.Transient receptor potential cation channel subfamily M member 8 (TRPM8) is a cationic thermosensory channel crucial for cold sensation and menthol response. TRPM8 dysfunction leads to sensory symptoms such as cold allodynia. Targeting TRPM8 is important for treating diseases like peripheral neuropathies and cancer.
Angela Lamberti +9 more
wiley +1 more source
Optimism as a Candidate Health Asset: Exploring Its Links With Adolescent Quality of Life in Sweden [PDF]
, 2019 This study aims to understand the role that optimism could play in the context of a health asset approach to promote adolescent health-related quality of life (HRQOL).
Benson P. L. +15 more
core +2 more sources