Relationship Between Asymptomatic Helicobacter Pylori Infection and BMI Among Patients Undergoing Bariatric Surgery in Saudi Arabia.

Background Obesity has become a major health concern associated with several comorbidities. Obesity has been connected to numerous variables. Furthermore, multiple studies were done worldwide to identify the relationship between obesity and Helicobacter pylori (H. pylori), and there was controversy. However, the relationship between H. pylori infection and obesity in our community is still not clear, and there is a knowledge gap. Aim To determine the relationship between asymptomatic H. pylori infection and body mass index (BMI) among patients who underwent bariatric surgery in Saudi Arabia, King Fahad Specialist Hospital - Buraidah (KFSH-B). Method An observational retrospective cohort study was conducted at KFSH-B. Patients with high BMI (>30 kg/m2) who underwent bariatric surgery between January 2017 and December 2019 were included. Gender, age, BMI, and upper GI endoscopy reports of preoperative mapping were collected from electronic health records. Results The sample size was 718, and the mean BMI (standard deviation) was 45 kg (6.8). Patients with positive H. pylori results were 245 (34.1%) and patients with negative H. pylori results were 473 (65.9%). The t-test showed the mean BMI of patients with negative H. pylori results to be 45.36 (SD 6.6). Positive H. pylori 44.95 (SD 7.2) p-value was not significant (0.44). Conclusion The data showed that patients who had undergone bariatric surgery had negative pre-operative histopathological results of H. pylori more than those who had positive results, which is consistent with the prevalence of H. pylori infection among the general population. Therefore, we found no correlation between H. pylori infection and high BMI.

Knowledge and Practice of Primary Health Care Providers in the Management of Asymptomatic Hyperuricemia and Gout in the Qassim Region of Saudi Arabia.

Introduction & Aim The most prevalent type of inflammatory arthritis is gout. It develops because of hyperuricemia, which makes monosodium urate (MSU) crystals accumulate in the joints. However, hyperuricemia does not always cause gout. Methodology The following is a cross-sectional study conducted in the Qassim region of Saudi Arabia. 133 PHPs in this region were given a self-administered questionnaire through an online survey. The questionnaire included four sections: Demographic data (i.e., age, gender, years of experience) Knowledge of asymptomatic hyperuricemia; Management practices of asymptomatic hyperuricemia; Knowledge and practice of gout management Results One hundred thirty-three primary healthcare providers took part (males 63.9%; females 36.1%). The proportion of PHPs who attended continuing medical education (CME) on AH or gout was 32.3%. Moreover, 67.7% already knew the guidelines for managing AH or gout. PHPs' level of knowledge regarding the management of AH and gout was good (45.9%), but their level of practice was poor (23.3%). Greater experience and CME attendance on AH and gout contributed to better understanding and higher practice scores. Conclusion Although PHPs' knowledge of managing AH and gout was adequate, this did not reflect in their practice. Physicians with more years of experience who attended CME on AH and gout demonstrated better knowledge and practice than the rest of the PHPs. It is necessary to address the gaps in the practice of our PHPs, which could be done through in-depth training about AH and gout. Our study could guide other researchers to assess the gaps in other clinical practices that PHPs face.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential UDP-glucose pyrophosphorylase (UGP2) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with life. We provide additional examples where a similar disease mechanism applies.