The medical and biochemical knowledge of health care professionals regarding the management of MERS-CoV: lessons from 2019 pilgrimage season in Al-Madinah, Saudi Arabia: A cross-sectional study

Background: Middle East respiratory syndrome coronavirus (MERS-CoV) epidemic was a serious healthcare concern not responding to conventional anti-viral therapies between 2012 and 2017 with high fatality rates. Saudi Arabia is still among the best world examples in combating both MERS-CoV and COVID-19 pandemics. Objectives: Investigating the medical and biochemical knowledge of healthcare professionals in Al-Madinah, Saudi Arabia on preventive, diagnostic and therapeutic measures against MERS-CoV epidemic. Subjects and methods: In 2019, this cross-sectional study included 416 healthcare personnel of which 402 participants answered the questions with a response rate of 96.7%. Specialties of participants were medical students (1.4%), physicians (64.4%), nurses (23.6%) and others (10.7%). Results: The vast majority of the investigated healthcare personnel gave the right answers. 96.7% of the participants answered that washing hands using water helps prevent MERS-CoV. 90.8% of the participants answered that wearing a clean non-sterile long-sleeved gown and gloves does helps prevent MERS-CoV infection. 94.7% of participants answered that using alcohol-based hand rub helps prevent MERS-CoV infection. 92.03% of the participants thought that wearing protective equipment does help preventing MERS-CoV infection. 86.1% answered that there is no vaccine available against MERS-CoV infection and 86.1% answered that taking vaccines is suitable for preventing MERS-CoV infection. 90.04% of the participants answered that MERS-CoV patients should be diagnosed using PCR and 84.3% thought that the highest levels of anti-CoV antibodies are in abattoir workers while 87.8% thought that isolation of suspected cases helps preventing MERS-CoV infection. Conclusion: The investigated healthcare workers had a satisfactory knowledge on the preventive and therapeutic measures and biochemical knowledge against MERS-CoV epidemic at mass gatherings as pilgrimage season

A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism

Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to parathyroid hormone (PTH) deficiency. Isolated hypoparathyroidism can be either sporadic or inherited. Genetic causes that impair the synthesis or secretion of PTH, such as calcium-sensing receptor and PTH defects, or defects in the development of the parathyroid gland [glial cell missing 2, (GCM2)], have been established as causes of familial isolated hypoparathyroidism. Transcription factor GCM2 is a crucial regulator of parathyroid gland homeostasis. Transmission of pathogenic variants encoding GCM2 occurs in an autosomal recessive or dominant manner. Case Presentation: Herein, we describe the case of a 12-year-old boy, born to consanguineous parents, who presented with abnormal movement during the first week of birth. Laboratory results revealed hypocalcemia, hyperphosphatemia, and low PTH levels. Genetic testing detected a novel homozygous variant in the GCM2 gene, c.391C>T (p.Arg131*). Although this variant has not been previously described, it is likely the pathogenic cause of this condition. Conclusion: To the best of authors' knowledge, this variant has not been listed in any database. Proper replacement therapy is likely to have good long-term outcomes for our patient. [JBCGenetics 2022; 5(1.000): 25-28

Advanced Photoelectrochemical Hydrogen Generation by CdO-g-C3N4 in Aqueous Medium under Visible Light

Herein, hydrothermal fabrication of CdO-g-C3N4 photocatalyst for a substantially better photocatalytic recital in water splitting is presented. The XRD analysis confirms the cubic phase of CdO-g-C3N4, whereas FTIR and UV-VIS studies revealed the presence of respective groups and a median band gap energy (2.55 eV) of the photocatalyst, respectively, which further enhanced its photo-electrochemical (PEC) properties. The SEM displays the oblong structures of g-C3N4 sheets and nano rod-like morphology of CdO and CdO-g-C3N4, respectively. The HR-TEM exhibits morphology & orientation of the grains and substantiates the polycrystal-line nature of CdO-g-C3N4 nanocomposite. The photocatalytic water-splitting concert is evaluated by PEC experiments under 1 SUN visible light irradiation. Linear sweep voltammetry (LSV), chronoamperometry (CA), and electrochemical impedance spectroscopy (EIS) comprehend the CdO-g-C3N4 as a hydrogen evolution photocatalyst. A photocurrent density beyond ≥5 mA/cm2 is recorded from CdO-g-C3N4, which is 5–6 folds greater than pure CdO and g-C3N4. The efficient separation and transfer of charges allocated to CdO-g-C3N4 and fabricating heterojunctions between g-C3N4 and CdO suppresses the unfavorable electron-hole pairs recombination process. Thus, it recesses charge transfer resistance, augmenting enhanced photocatalytic performance under 1 SUN irradiation

The potential of voice recognition technology in medical record documentation: Review

Background: Electronic health records (EHRs) have become an integral part of healthcare, providing a digital representation of patient medical histories. However, the transition from paper-based to electronic records has raised concerns about the security and privacy of sensitive health data. Aim of Work: This study aims to provide valuable insights to stakeholders in the healthcare system on the need for implementing, selecting, developing, and using electronic health records that improve the privacy and security of patients. Methods: The review explores the potential of voice recognition technology in medical record documentation, examining the key security and privacy considerations surrounding electronic health records. Results: The study highlights the importance of ensuring the confidentiality, integrity, and availability of health data stored in electronic systems. It also discusses the impact of emerging technologies, such as cloud computing and mobile devices, on the security and privacy of electronic health records. Conclusion: Securing electronic health records is crucial to safeguarding patient privacy and maintaining trust in the healthcare system. The study emphasizes the need for a multidisciplinary approach involving experts in communications, instrumentation, and computer science to facilitate the secure exchange of medical data and enhance the overall quality of healthcare services

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown. All of the gene products localize in and around the primary cilium, making JS a canonical ciliopathy. Ciliopathies are unified by their overlapping clinical features and underlying mechanisms involving ciliary dysfunction. In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (stop-gain, missense, splice-site, and single-exon deletion) in 11 individuals with JS from 8 families, accounting for approximately 1% of the disorder. The associated phenotypes range from isolated neurological involvement to JS with retinal dystrophy, additional brain abnormalities (e.g., heterotopia, Dandy-Walker malformation), pituitary insufficiency, and/or synpolydactyly. We show that ARMC9 localizes to the basal body of the cilium and is upregulated during ciliogenesis. Typical ciliopathy phenotypes (curved body shape, retinal dystrophy, coloboma, and decreased cilia) in a CRISPR/Cas9-engineered zebrafish mutant model provide additional support for ARMC9 as a ciliopathy-associated gene. Identifying ARMC9 mutations as a cause of JS takes us one step closer to a full genetic understanding of this important disorder and enables future functional work to define the central biological mechanisms underlying JS and other ciliopathies