Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA damage response, defective spliceosomal machinery, and abnormal replication licensing. Here, we describe a syndromic form of PD associated with severe intellectual disability and distinct facial features in a large multiplex Saudi family. Analysis reveals a novel underlying mechanism for PD involving depletion of 7SK, an abundant cellular noncoding RNA (ncRNA), due to mutation of its chaperone LARP7. We show that 7SK levels are tightly linked to LARP7 expression across cell lines, and that this chaperone is ubiquitously expressed in the mouse embryo. The 7SK is known to influence the expression of a wide array of genes through its inhibitory effect on the positive transcription elongation factor b (P-TEFb) as well as its competing role in HMGA1-mediated transcriptional regulation. This study documents a critical role played by ncRNA in human development and adds to the growing list of molecular mechanisms that, when perturbed, converge on the PD phenotype.

Helicobacter pylori (HP) is a facultative anaerobic bacterium. HP is a normal flora having immuno-modulating properties. This bacterium is an example of a microorganism inducing gastric cancer. Its carcinogenicity depends on bacteria-host related factors. The proper understanding of the biology of HP inducing gastric cancer offers the potential strategy in the managing of HP rather than eradicating it. In this article, we try to summarize the biology of HP-induced gastric cancer and discuss the current pharmacological approach to treat and prevent its carcinogenicity.

Despite having good awareness about DM and its effects on eyes, the patients exhibited a relative lack of awareness about DR. Considering the association of DR with DM, its increasing magnitude is a potential burden on the community and health systems.

Background It had been documented in many studies that pediatric coronavirus disease 2019 (COVID-19) is characterized by low infectivity rates, low mortalities, and benign disease course. On the other hand, influenza type A viruses are recognized to cause severe and fatal infections in children populations worldwide. This study is aimed to compare the clinical and laboratory characteristics of COVID-19 and H1N1 influenza infections. Methods A retrospective study comprising 107 children hospitalized at Abha Maternity and Children Hospital, Southern region of Saudi Arabia, with laboratory-confirmed COVID-19 and H1N1 influenza infections was carried out. A complete follow-up for all patients from the hospital admission until discharge or death was made. The clinical data and laboratory parameters for these patients were collected from the medical records of the hospital. Results Out of the total enrolled patients, 73 (68.2%) were diagnosed with COVID-19, and 34 (31.8%) were diagnosed with H1N1 influenza. The median age is 12 months for COVID-19 patients and 36 months for influenza patients. A relatively higher number of patients with influenza had a fever and respiratory symptoms than COVID-19 patients. In contrast, gastrointestinal symptoms were observed in a higher number of COVID-19 patients than in influenza patients. A statistically significant increase in white cell counts is noted in COVID-19 but not in influenza patients (P < 0.05). There are no obvious variations in the mean period of duration of hospitalization between COVID-19 and influenza patients. However, the total intensive care unit length of stay was longer for influenza compared to COVID-19 patients. Conclusions A considerable number of children infected with COVID-19 and H1N1 influenza were noted and reported in this study. There were no significant variations in the severity of the symptomatology and laboratory findings between the two groups of patients. Significant differences between these patients in some hospitalization factors and diagnosis upon admission also were not observed. However, more severe clinical manifestations and serious consequences were observed among pediatric patients hospitalized with influenza infections than among those with COVID-19.

Objective To assess the level and determinants of practice in diabetes self-management at primary health care centers (PHCCs) and to analyze the association of self-management with the level of glycemic control. Method A cross-sectional study was conducted among patients with type 1 and type 2 diabetes, aged ≥ 17 years, and being followed at PHCCs in Jeddah, Saudi Arabia, from December 1, 2019, to December 30, 2019. A multistage cluster sampling technique was used to select 350 participants from five PHCCs. The level of practice in self-management was assessed using the Arabic version of the Summary of Diabetes Self-care Activities (SDSCA) questionnaire. The tool was administered as a face-to-face interview, followed by the collection of sociodemographic and relevant clinical data. In addition, blood was collected to measure fasting blood glucose (FBG) and HbA1c levels. The association of the overall SDSCA score with diabetes control was analyzed using linear regression and the receiver operator characteristics (ROC) curve. Multivariate binary logistic regression was carried out to analyze independent factors of inadequate practice. Result The overall mean (SD) SDSCA score was 3.13 (1.13)/7. Of the five dimensions of self-care, medication adherence yielded the highest score (mean=5.39 days per week), followed by diet (2.83) and blood glucose monitoring (2.78), while footcare had the lowest level of practice (2.26). The SDSCA score showed a negative correlation with the level of HbA1c, with a correlation coefficient r-squared =0.530 and regression coefficient B=-0.648 (p <0.001). ROC curve analysis showed that optimal glycemic control was associated with SDSCA score cutoff ≥3.5 with 82.0% sensitivity and 77.0% specificity, and the model showed that 38.0% of participants had adequate practice in self-management. Inadequate practice in diabetes self-management was independently associated with age >50 years (OR=2.00 [95%CI=1.02, 3.89]), rental accommodation (OR=0.42 [95%CI=0.23, 0.76]), independent job (OR=3.98 [95%CI=1.66, 9.57]), and longer duration of diabetes (≥8 years) (OR=4.25 [95%CI=1.82, 9.92]). Conclusion There are low levels of diabetes self-management among patients being followed at Jeddah PHCCs. This is associated with suboptimal glycemic control among the majority of the patients, indicating the importance of self-management to improve diabetes control. Patient health literacy and education for self-management should be considered the standard of care for diabetic patients in all PHCCs, with specific attention to subcategories of patients with the lowest levels of practice in self-management such as those with a longer duration of diabetes and the elderly.