Population Genome Programs across the Middle East and North Africa: Successes, Challenges, and Future Directions.

In this review, we discuss the current state of population genome programs (PGPs) conducted in the Middle East and North African (MENA) region. This region has high prevalence of genetic diseases and significant health challenges as well as being a significantly underrepresented population in public genetic databases. The majority of ongoing PGPs represent regions in Europe, North and South America, South Asia, Australia, and Africa, with little to no descriptive information highlighted only on the MENA Region when it comes to genome programs databases, outcomes, or the challenges that MENA region countries may face establishing their own national programs. This review has identified 6 PGPs currently underway in the MENA region, namely in the Kingdom of Saudi Arabia, Qatar, Egypt, the United Arab Emirates, Bahrain, and Iran. Due to the rapidly growing involvement of the MENA region in national-scale genomic data collection, an increase in representation in public genetic databases is to be expected to occur in the near future. Whilst significant progress is being made in some MENA countries, future initiatives as well as ongoing programs will be facing several challenges related to collaboration, finance, infrastructure and institutional data access, data analysis, sustainability, health records, and biobanks. The review also reiterates the need for ensuring ethical and regulated genomic initiatives which can drive developments in personalized medicine treatments to improve patient prognosis and quality of life.

The Hypothermic Effect of Hydrogen Sulfide Is Mediated by the Transient Receptor Potential Ankyrin-1 Channel in Mice.

Hydrogen sulfide (H2S) has been shown in previous studies to cause hypothermia and hypometabolism in mice, and its thermoregulatory effects were subsequently investigated. However, the molecular target through which H2S triggers its effects on deep body temperature has remained unknown. We investigated the thermoregulatory response to fast-(Na2S) and slow-releasing (GYY4137) H2S donors in C57BL/6 mice, and then tested whether their effects depend on the transient receptor potential ankyrin-1 (TRPA1) channel in Trpa1 knockout (Trpa1-/-) and wild-type (Trpa1+/+) mice. Intracerebroventricular administration of Na2S (0.5-1 mg/kg) caused hypothermia in C57BL/6 mice, which was mediated by cutaneous vasodilation and decreased thermogenesis. In contrast, intraperitoneal administration of Na2S (5 mg/kg) did not cause any thermoregulatory effect. Central administration of GYY4137 (3 mg/kg) also caused hypothermia and hypometabolism. The hypothermic response to both H2S donors was significantly (p < 0.001) attenuated in Trpa1-/- mice compared to their Trpa1+/+ littermates. Trpa1 mRNA transcripts could be detected with RNAscope in hypothalamic and other brain neurons within the autonomic thermoeffector pathways. In conclusion, slow- and fast-releasing H2S donors induce hypothermia through hypometabolism and cutaneous vasodilation in mice that is mediated by TRPA1 channels located in the brain, presumably in hypothalamic neurons within the autonomic thermoeffector pathways.

The effect of inter-electrode distance on radial muscle displacement and contraction time of the biceps femoris, gastrocnemius medialis and biceps brachii, using tensiomyography in healthy participants.

BACKGROUND: The systematic effect of inter-electrode distance on electrically elicited radial muscle displacement (Dm) and contraction time (T c) of the biceps femoris, gastrocnemius medialis and biceps brachii using tensiomyography (TMG) is currently unavailable. OBJECTIVE: To investigate the effects of inter-electrode distance (4 cm, 5 cm, 6 cm and 7 cm) on Dm and T c of the biceps femoris, gastrocnemius medialis and biceps brachii, when the current amplitude is standardised. APPROACH: A within subject, repeated measures cross-over study. PARTICIPANTS: 24 participants. MAIN RESULTS: Biceps femoris and gastrocnemius medialis Dm increased with increased inter-electrode distance (biceps femoris: p  = 0.015; gastrocnemius medialis: p  = 0.000), yet T c were not affected (p  > 0.05). Biceps brachii Dm was not affected by inter-electrode distance (p  > 0.05), yet T c became shorter with increased inter-electrode distance (p  = 0.032). SIGNIFICANCE: Inter-electrode distance affects Dm but not T c in two pennate muscles (biceps femoris and gastrocnemius medialis), and T c but not Dm in one parallel muscle (biceps brachii). Based on Dm measurements, optimal muscle specific inter-electrode distances were judged within the limits of this study. The following optimal inter-electrode distances are suggested: biceps femoris = 6 cm, gastrocnemius medialis = 7 cm and biceps brachii = 4 cm. Our findings emphasise the importance of accurate implementation and reporting of inter-electrode distance, for the reproducibility and comparability of studies using TMG.

Repeated stimulation, inter-stimulus interval and inter-electrode distance alters muscle contractile properties as measured by Tensiomyography.

CONTEXT: The influence of methodological parameters on the measurement of muscle contractile properties using Tensiomyography (TMG) has not been published. OBJECTIVE: To investigate the; (1) reliability of stimulus amplitude needed to elicit maximum muscle displacement (Dm), (2) effect of changing inter-stimulus interval on Dm (using a fixed stimulus amplitude) and contraction time (Tc), (3) the effect of changing inter-electrode distance on Dm and Tc. DESIGN: Within subject, repeated measures. PARTICIPANTS: 10 participants for each objective. MAIN OUTCOME MEASURES: Dm and Tc of the rectus femoris, measured using TMG. RESULTS: The coefficient of variance (CV) and the intra-class correlation (ICC) of stimulus amplitude needed to elicit maximum Dm was 5.7% and 0.92 respectively. Dm was higher when using an inter-electrode distance of 7cm compared to 5cm [P = 0.03] and when using an inter-stimulus interval of 10s compared to 30s [P = 0.017]. Further analysis of inter-stimulus interval data, found that during 10 repeated stimuli Tc became faster after the 5th measure when compared to the second measure [P<0.05]. The 30s inter-stimulus interval produced the most stable Tc over 10 measures compared to 10s and 5s respectively. CONCLUSION: Our data suggest that the stimulus amplitude producing maximum Dm of the rectus femoris is reliable. Inter-electrode distance and inter-stimulus interval can significantly influence Dm and/ or Tc. Our results support the use of a 30s inter-stimulus interval over 10s or 5s. Future studies should determine the influence of methodological parameters on muscle contractile properties in a range of muscles.