Knowledge and Attitudes of Undergraduate University Students in Oman With Regard to People Living With HIV.

BACKGROUND: There is scarce literature from the region pertinent to university students' HIV-related knowledge, perception, attitudes, and behavior toward people living with HIV. Moreover, university students in Oman are remarkably uninformed about HIV, resulting in misconceptions and stigmatization among students. OBJECTIVE: This research aimed to examine HIV-related knowledge and attitudes of undergraduate medical and non-medical university students toward people living with HIV in Oman. METHODS: This was a qualitative cross-sectional study using convenience sampling to recruit participants from nine colleges at Sultan Qaboos University, Muscat, Oman. An online questionnaire composed of 17 Likert scale statements examining students' knowledge and nine Likert scale statements exploring students' attitudes was used. A knowledge score ≥ the mean was considered good knowledge, whereas a stigma score > the mean was regarded as stigmatization. A sample size of 376 students was computed using a Raosoft calculator (Raosoft, Inc., Seattle, Washington, United States) with a confidence level of 95% and a margin of error of 5%. Cronbach's alpha for the 26-item questionnaire was α = 0.716. Responses were collected and analyzed using IBM SPSS Statistics for Windows, Version 26, (Released 2019; IBM Corp., Armonk, New York, United States). The questionnaire and the study protocol were approved by the institution's medical research and ethics committee. RESULTS: A total of 678 undergraduate university students responded to the questionnaire including 450 (66.4%) and 228 (33.6%) female and male students, respectively. Medical students represented 20.8% of the responders. The mean knowledge score was 12.3 ± 1 signifying good knowledge in 72% of the students and the mean stigma score was 6.03 ± 3.51 indicating that 43.4% of the responders had a negative and stigmatizing attitude. Medical students had the highest mean knowledge score (14.2 ± 1.8) denoting good knowledge in 83.5% of the students. Additionally, medical students had the lowest mean stigma score (4.64 ± 3.32) implying that 29% of the surveyed medical students had negative attitudes toward people living with HIV. No significant association was found between students' academic performance or students' sex with mean knowledge scores. Contrarily, male sex was found to be significantly associated with lower mean stigma scores. No significant relationship between students' knowledge scores and stigma scores was observed. CONCLUSION: The findings of this study denote a substantial gap in HIV-related knowledge among university students, leading to undesirable attitudes toward people living with HIV. These findings call for an urgent need to escalate HIV awareness and educational programs tailored to university students in Oman.

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.

Carbonic anhydrase VA (CA-VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in CA5A. Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no further recurrence of hyperammonemia with a favorable outcome. This retrospective cohort study reports 18 patients with CA-VA deficiency caused by homozygosity for a founder mutation, c.59G>A p.(Trp20*) in CA5A. The reported patients show significant intrafamilial and interfamilial variability, and display atypical clinical features. Two adult patients were asymptomatic, 7/18 patients had recurrent hyperammonemia, 7/18 patients developed variable degree of developmental delay, 9/11 patients had hyperCKemia, and 7/18 patients had failure to thrive. Microcephaly was seen in three patients and one patient developed a metabolic stroke. The same variant had been reported already in a single South Asian patient presenting with neonatal hyperammonemic encephalopathy and subsequent development of seizures and developmental delay. This report highlights the limitations of current understanding of the pathomechanisms involved in this disorder, and calls for further evaluation of the possible role of genetic modifiers in this condition.

Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.

Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the PIEZO2 gene. Here we present four Omani families with multiple affected members with DAIPT. The genetic diagnosis was established by whole exome sequencing and we identified a previously unreported homozygous missense variant PIEZO2 : c.1591T > C, P.(Trp531Arg) in one family with two affected members. All patients showed clinical manifestation shortly after birth including transient respiratory insufficiency, significant hypotonia, and gross motor developmental delay with preserved cognitive function. The skeletal manifestation including arthrogryposis is more pronounced with age as we saw in our older patient. This case report will be of importance for physicians and genetic counsellors for faster diagnosis and for offering carrier testing for at-risk family members as part of the premarital testing program, which could help in reducing the burden of this disorder.

Knowledge, Attitude and Awareness of Oman Emergency Physicians and Residents Regarding Radiation Emergencies.

OBJECTIVE: Radiological emergency preparedness and response are increasingly acknowledged as vital components of both emergency readiness and public health. Previous studies have shown that medical providers feel unprepared to respond to radiation incidents. The existing level of knowledge, attitudes, and awareness held by emergency medicine residents and physicians in Oman, remain unexplored. This study aims to evaluate the knowledge, attitude, and awareness level of emergency residents and physicians in Oman regarding the management of radiation emergencies. METHODS: An electronic survey was distributed to 44 emergency residents and 57 emergency physicians. RESULTS: The response rate was 62.7% (N = 69/110). Notably, 62% reported no prior engagement in radiation emergency training. The majority of participants had neither employed nor received training in operating radiation detection devices. A significant gap in knowledge emerged, with the median self-reported knowledge score of 50/100. The majority of participants (59%) expressed a need for educational programs and materials. CONCLUSION: Our findings underscore the imperative for enhanced training in radiological incident preparedness for emergency medicine residents and physicians in Oman. The study reveals a clear necessity to bridge the existing gaps in knowledge and attitudes to bolster the readiness of health-care professionals to respond effectively to radiation emergencies.

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Wiedemann-Rautenstrauch Syndrome (WRS; MIM 264090) is an extremely rare and highly heterogeneous syndrome that is inherited in a recessive fashion. The patients have hallmark features such as prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, facial dysmorphology, hypomyelination leukodystrophy, and mental impairment. Biallelic disease-causing variants in the RNA polymerase III subunit A (POLR3A) have been associated with WRS. Here, we report the first identified cases of WRS syndrome with novel phenotypes in three consanguineous families (two Omani and one Saudi) characterized by biallelic variants in POLR3A. Using whole-exome sequencing, we identified one novel homozygous missense variant (NM_007055: c.2456C>T; p. Pro819Leu) in two Omani families and one novel homozygous variant (c.1895G>T; p Cys632Phe) in Saudi family that segregates with the disease in the POLR3A gene. In silico homology modeling of wild-type and mutated proteins revealed a substantial change in the structure and stability of both proteins, demonstrating a possible effect on function. By identifying the homozygous variants in the exon 14 and 18 of the POLR3A gene, our findings will contribute to a better understanding of the phenotype-genotype relationship and molecular etiology of WRS syndrome.

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of whom 20.4% had genetically inferred non-European ancestries. The estimated fraction of patients attributable to exome-wide autosomal recessive coding variants ranged from ~2-19% across genetically inferred ancestry groups and was significantly correlated with average autozygosity. Established autosomal recessive developmental disorder-associated (ARDD) genes explained 84.0% of the total autosomal recessive coding burden, and 34.4% of the burden in these established genes was explained by variants not already reported as pathogenic in ClinVar. Statistical analyses identified two novel ARDD genes: KBTBD2 and ZDHHC16. This study expands our understanding of the genetic architecture of developmental disorders across diverse genetically inferred ancestry groups and suggests that improving strategies for interpreting missense variants in known ARDD genes may help diagnose more patients than discovering the remaining genes.

Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.

Mitochondrial aminoacyl-tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We reviewed all patients diagnosed with mitochondrial aminoacyl-tRNA synthetase deficiencies diagnosed in a single neurometabolic clinic. We report five patients with mitochondrial aminoacyl-tRNA synthetase deficiencies including DARS2, EARS2, PARS2, and RARS2 deficiencies. Siblings with DARS2 deficiency presented with global developmental delay within the first year of life. DARS2, EARS2, PARS2, and RARS2 deficiencies were identified by whole exome sequencing. We report coagulation factor abnormalities in PARS2 deficiency for the first time. We also report symmetric increased signal intensity in globus pallidi in FLAIR images in brain MRI in EARS2 deficiency for the first time. One patient with RARS2 deficiency had compound heterozygous variants in RARS2. One of those variants was an intronic variant. We confirmed the pathogenicity by mRNA studies. Mitochondrial aminoacyl-tRNA synthetase deficiencies are diagnosed by molecular genetic investigations. Clinically available non-invasive biochemical investigations are non-specific for the diagnosis of mitochondrial aminoacyl-tRNA synthetase deficiencies. A combination of brain MRI features and molecular genetic investigations should be undertaken to confirm the diagnosis of mitochondrial aminoacyl-tRNA synthetase deficiencies.