Molecular Motor Proteins and Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting motor neurons in the brain, brainstem and spinal cord, which is characterized by motor dysfunction, muscle dystrophy and progressive paralysis. Both inherited and sporadic forms of ALS share common pathological features, however, the initial trigger of neurodegeneration remains unknown. Motor neurons are uniquely targeted by ubiquitously expressed proteins in ALS but the reason for this selectively vulnerability is unclear. However motor neurons have unique characteristics such as very long axons, large cell bodies and high energetic metabolism, therefore placing high demands on cellular transport processes. Defects in cellular trafficking are now widely reported in ALS, including dysfunction to the molecular motors dynein and kinesin. Abnormalities to dynein in particular are linked to ALS, and defects in dynein-mediated axonal transport processes have been reported as one of the earliest pathologies in transgenic SOD1 mice. Furthermore, dynein is very highly expressed in neurons and neurons are particularly sensitive to dynein dysfunction. Hence, unravelling cellular transport processes mediated by molecular motor proteins may help shed light on motor neuron loss in ALS

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

A first update on mapping the human genetic architecture of COVID-19

peer reviewe

Pattern of steroid resistant nephrotic syndrome in children living in the kingdom of Saudi Arabia: A single center study

Steroid resistant nephrotic syndrome (SRNS) remains a challenge facing pediatric nephrologists. The underlying histopathology usually affects the course of the disease and the response to treatment. We studied the pattern of histopathology in children with SRNS who presented to the King Abdul Aziz University Hospital (KAUH), Jeddah, Saudi Arabia. The records of all children with primary SRNS, who were seen between 2002 and 2007 were reviewed. Only patients who had undergone a renal biopsy were included in the study. The histopathology slides were reviewed by two renal pathologists independently. Patients with congenital nephrotic syndrome, lupus or sickle cell disease, were excluded from the study. Thirty-six children fulfilled the inclusion criteria, and included 25 girls and 11 boys with female to male ratio of 2.3:1. Fifty percent of the children (n=18) were Saudi and the remaining 50&#x0025; were from various other racial backgrounds (9 Asians, 4 Arabs, 2 Africans and 3 from the Far East). Their mean age at presentation was 4.3 &#177; 3.0 years (range 1-12 years). The mean serum albumin at presentation was 15.6 &#177; 7.1 g/L and all of them had 4&#x002B; proteinuria on urinalysis. Five children had elevated serum creatinine at presentation while the mean serum creatinine was 50.4 &#177; 45.6 &#181;mol/L. Three children had low serum complement levels at presentation and none were positive for hepatitis B surface antigen or antinuclear antibody (ANA). The renal histopathology was compatible with focal and segmental glomerulosclerosis (FSGS) in 39&#x0025; (n=14), IgM nephro-pathy in <i>28&#x0025; </i>(n=10), mesengioproliferative glomerulonephritis (MesPGN) in <i>17&#x0025; </i>(n=6), mini-mal change disease (MCD) and C1q nephropathy (C1qNP) in 8&#x0025; each (n=3 &#x002B; 3) and IgA nephro-pathy in <i>3&#x0025; </i>(n=1). Our retrospective review shows that FSGS was the commonest underlying histopathology in children who presented with SRNS followed by IgM nephropathy and other variants of MCD such as MesPGN. C1qNP was the underlying cause in some children

Knowledge and attitude of Saudi female university students about first aid skills

BACKGROUND: First aid is the first and most essential life saving care that can reduce the morbidity of an individual in a health-threatening circumstance. The aim of this study was to assess the knowledge and attitude toward the provision of first aid among students attending Princess Norah University (PNU). MATERIALS AND METHODS: A cross-sectional study was conducted at PNU in Riyadh, Saudi Arabia, from October 2017 to December 2017. A total of 1000 female students from 15 different colleges completed a self-administered questionnaire. RESULTS: The mean age was 21 years (range 18-26); 36% study participants were from health colleges and remaining from other colleges. Only 34.7% had good knowledge, 57.5% had moderate knowledge, and 7.8% had poor knowledge on first aid skills. Analysis of knowledge in specific emergency situations showed that the students were more knowledgeable in cases of epistaxis, ingestion of toxins, burns, hypoglycemia, and loss of consciousness. However, they were found to be less knowledgeable in handling situations of seizures, choking, and snake bite. About 20.2% of the students had encountered situations where cardiopulmonary resuscitation was required and 65.3% of these students had not provided first aid because of the lack of knowledge, nervousness, and other issues. Good knowledge was associated with previous first aid training and being a student in a health college. CONCLUSION: Overall, students had a positive attitude toward first aid; however, they still did not have the knowledge necessary to be able to act in emergency situations. There is a need for increased public health awareness. It is also advisable to introduce first aid courses in all universities and secondary schools

COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19

The COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we formed the COVID-19 Host Genetics Initiative1. Here we present a genome-wide association study meta-analysis of up to 125,584 cases and over 2.5 million control individuals across 60 studies from 25 countries, adding 11 genome-wide significant loci compared with those previously identified2. Genes at new loci, including SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity.</p