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VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss
(2021)
Abstract:
The American College of Medical Genetics and Genomics, and the Association for Molecular Pathology (ACMG/AMP) have proposed a set of evidence-based guidelines to support sequence variant interpretation. The ...
Mechanisms of pain in sickle cell disease
(2020)
Objectives:
The hallmark of sickle cell disease (SCD) is acute and chronic pain, and the pain dominates the clinical characteristics of SCD patients. Although pharmacological treatments of SCD targeting the disease ...
Evidence based treatment for developmental dysplasia of the hip in children under 6 months of age. Systematic review and exploratory analysis
(2020)
Introduction:
Developmental dysplasia of the hip (DDH) is a common paediatric orthopaedic condition that attracts a substantive amount of controversy. The treatments vary because of the wide spectrum of the condition and ...
Intermittent use of biologic agents for the treatment of psoriasis in adults
(2020)
Abstract:
Current clinical recommendations suggest that continuous treatment of moderate to severe psoriasis with biologic agents is more effective than intermittent treatment in terms of achieving remission and maintaining ...
COVID-19 infection in pregnant women: Review of maternal and fetal outcomes
(2020)
Abstract:
Pregnant women, their fetuses, and newborns are likely to represent a high-risk population during the current coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus-2 ...
Dorsal root ganglion stimulation: a new target for autonomic neuromodulation?
(2021)
Abstract:
Dysautonomias are typifed by aberrant output of either the sympathetic or parasympathetic nervous system resulting in an array of manifestations across multiple body systems. Neuromodulation of the autonomic ...
Implication of genetic variants in overweight and obesity susceptibility among the young Arab population of the United Arab Emirates
(2020)
Objective:
Overweight and obesity are major risk factors for Type 2 Diabetes Mellitus (T2DM), cardiovascular disease (CVD) and cancer. Genetic predisposition has been shown to play a key role in obesity, and genome-wide ...
Non-coronary atherosclerotic cardiovascular disease in patients with familial hypercholesterolaemia
(2020)
Objective:
Familial hypercholesterolaemia (FH) is a common autosomal dominant inherited disease, affecting 1 in 200 - 500 individuals worldwide. FH is characterized by elevated circulating low-density lipoprotein cholesterol ...
Natural compound catechol induces DNA damage, apoptosis, and G1 cell cycle arrest in breast cancer cells
(2020)
Abstract:
Targeting cell cycle and inducing DNA damage by activating cell death pathways are considered as effective therapeutic strategy for combating breast cancer progression. Many of the naturally known small molecules ...
Does Hospital Teaching Status Affect the Outcomes of Patients Undergoing Anterior Cervical Discectomy and Fusion?
(2020)
Background:
Teaching hospitals are responsible for the training and education of residents and have been centers of research and advancement in an era of evidence-based medicine. Several studies have reported conflicting ...