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Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
(2016-07)
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated ...
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
(2017-03)
Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed ...
7p22.1 microduplication syndrome: Refinement of the critical region.
(2017-02)
7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, ...
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
(2019-08)
OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, ...
Greater risk of severe COVID-19 in Black, Asian and Minority Ethnic populations is not explained by cardiometabolic, socioeconomic or behavioural factors, or by 25(OH)-vitamin D status: study of 1326 cases from the UK Biobank.
(2020-08-18)
BACKGROUND: We examined whether the greater severity of coronavirus disease 2019 (COVID-19) amongst men and Black, Asian and Minority Ethnic (BAME) individuals is explained by cardiometabolic, socio-economic or behavioural ...
MicroRNA signatures of perioperative myocardial injury after elective noncardiac surgery: a prospective observational mechanistic cohort study.
(2020-11)
BACKGROUND: Elevated plasma or serum troponin, indicating perioperative myocardial injury (PMI), is common after noncardiac surgery. However, underlying mechanisms remain unclear. Acute coronary syndrome (ACS) is associated ...
One-year efficacy and safety of everolimus-eluting bioresorbable scaffolds in the setting of acute myocardial infarction.
(Public Library of Science, 2020-07-09)
BACKGROUND AND OBJECTIVES: This study sought to compare clinical outcomes between bioresorbable scaffolds (BRS) and durable polymer everolimus-eluting metallic stents (DP-EES) in patients with acute myocardial infarction ...
Use of cardiac imaging in chronic coronary syndromes: the EURECA Imaging registry.
(2023-01-07)
BACKGROUND: The prospective, multicentre EURECA registry assessed the use of imaging and adoption of the European Society of Cardiology (ESC) Guidelines (GL) in patients with chronic coronary syndromes (CCS). METHODS: ...
Endovascular Ultrasound Renal Denervation to Treat Hypertension: The RADIANCE II Randomized Clinical Trial.
(2023-02-28)
IMPORTANCE: Two initial sham-controlled trials demonstrated that ultrasound renal denervation decreases blood pressure (BP) in patients with mild to moderate hypertension and hypertension that is resistant to treatment. ...
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity.
(2022-03-03)
Treatment of severe COVID-19 is currently limited by clinical heterogeneity and incomplete description of specific immune biomarkers. We present here a comprehensive multi-omic blood atlas for patients with varying COVID-19 ...