Biallelic variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13related diseases remains unclear. We report 10 additional affected individuals from nine independent families, identifying four missense variants (including recurrent c.

Valsalva Maneuver Versus Carotid Sinus Massage for Supraventricular Tachycardia: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Supraventricular tachycardia (SVT) is one of the most common cardiac arrhythmias, characterized by a sudden increase in heart rate. Initial management often involves vagal maneuvers, including the Valsalva maneuver (VM) and carotid sinus massage (CSM). VM can be categorized into standard VM (sVM) and modified VM (mVM).

Removal Efficiency and Effectiveness of Four Different Fiber Posts Using Five Different Drill Systems in Multirooted Teeth.

Aim: In comparing the effectiveness and efficiency of different types of post removal systems in removing different types of fiber posts (FPs), this study aims to shed light on the success of removal by currently available drill systems.

Materials And Methods: A total of 200 maxillary first molars, were root canal treated and prepared to receive posts. The molars were divided into four groups corresponding to four different FPs: Group RX, Radix FP; Group RF, Reforpost Glass Fiber; Group HI; Hi-Rem Endodontic Post; and Group DT, D.

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.

Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations.

Methods: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD.

Results: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait.

The Influence of Eating Habits on Type 2 Diabetes in Saudi Arabia: A Systematic Review.

Several dietary factors are associated with an increased risk of diabetes in Saudi Arabia. The increasing consumption of processed and sugary foods, including fast food and sugary beverages, in recent decades along with the rising prevalence of diabetes indicate the necessity of exploring the influence of eating habits on diabetes in Saudi Arabia. That is why the association between eating habits and diabetes in Saudi Arabia has become a topic of increasing interest.

LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.

Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron-sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it.

A review of advanced technologies available to improve the healthcare performance during COVID-19 pandemic.

Information technology (IT) has enabled the initiation of an innovative healthcare system. An innovative healthcare system integrates new technologies such as cloud computing, the internet of things, and artificial intelligence (AI), to transform the healthcare to be more efficient, more convenient and more personalized. This review aims to identify the key technologies that will help to support an innovative healthcare system.

Awareness of electronic crimes related to E-learning among students at the University of Jordan.

The spread of e-learning as an alternative to traditional or face-to-face education has faced many problems and challenges in general and ethical and legal challenges in particular. This study aims to measure students' awareness of the safe use of technology and its tools in e-learning that is consistent with ethical and legal standards. The study attempts to reveal the degree of awareness of students of the University of Jordan about electronic crimes related to e-learning and the legal procedures and penalties related to electronic crimes in e-learning.

A Novel Wireless Low-Cost Inclinometer Made from Combining the Measurements of Multiple MEMS Gyroscopes and Accelerometers.

Structural damage detection using inclinometers is getting wide attention from researchers. However, the high price of inclinometers limits this system to unique structures with a relatively high structural health monitoring (SHM) budget. This paper presents a novel low-cost inclinometer, the low-cost adaptable reliable angle-meter (LARA), which combines five gyroscopes and five accelerometers to measure inclination.

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Pyruvate, the end product of glycolysis, is a key metabolic molecule enabling mitochondrial adenosine triphosphate synthesis and takes part in multiple biosynthetic pathways within mitochondria. The mitochondrial pyruvate carrier (MPC) plays a vital role in transporting pyruvate from the cytosol into the organelle. In humans, MPC is a hetero-oligomeric complex formed by the MPC1 and MPC2 paralogs that are both necessary to stabilize each other and form a functional MPC.

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.

Kuwait is a small Arabian Gulf country with a high rate of consanguinity and where a national newborn screening program was expanded in October 2014 to include a wide range of endocrine and metabolic disorders. A retrospective study conducted between January 2015 and December 2020 revealed a total of 304,086 newborns have been screened in Kuwait. Six newborns were diagnosed with classic homocystinuria with an incidence of 1:50,000, which is not as high as in Qatar but higher than the global incidence.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism, including ELAC2. The ELAC2 gene codes for the mitochondrial RNase Z, responsible for endonucleolytic cleavage of the 3' ends of mitochondrial pre-tRNAs.

Expanding the clinical phenotype of IARS2-related mitochondrial disease.

Background: IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes with autosomal recessive inheritance. These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies.