Novel recurrent mutations and genetic diversity in Sudanese children with Adrenal Insufficiency.

Background: Studies of Primary Adrenal Insufficiency (PAI) in African children are rare but in Sudan, congenital adrenal hyperplasia (CAH) and Triple A syndrome are the most common genetic causes. Differential diagnosis is challenging, especially in resource-limited settings, where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing may be restricted.

Patients & Methods: Forty-eight (48) patients from 43 families (31M:17F) with PAI were included (CAH/Triple A excluded).

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic genetic disease resulting from defects in the bile acid metabolism. This report describes cases diagnosed with CTX at an exceptionally early age - 4 months (Patient #2 and #3) - making them the youngest reported cases to date. All three presented with intractable congenital diarrhea, a hallmark manifestation of the disease.

The Subtle Signs of Scurvy: A Paediatric Case Misleading Clinicians.

Scurvy, arising from vitamin C deficiency, remains relevant despite historical declines. Scurvy commonly presents with severe leg pain, reluctance to walk, and limping. Other symptoms include gingival bleeding, hypertrophy, and ecchymoses.

Ultrasound features of high-risk basal cell carcinoma: a systematic review.

Basal Cell Carcinoma (BCC) is the most prevalent skin cancer and continues to witness a surge in incidence rates. The categorization of BCC subtypes into low or high risk, guided by recurrence and invasiveness metrics, underscores the need for precise differentiation. While the punch biopsy remains the gold standard for diagnosis, its invasiveness prompts a need for non-invasive alternatives.

Coordination of oral anticoagulant care at hospital discharge (COACHeD): pilot randomised controlled trial.

Objectives: To evaluate whether a focused, expert medication management intervention is feasible and potentially effective in preventing anticoagulation-related adverse events for patients transitioning from hospital to home.

Design: Randomised, parallel design.

Setting: Medical wards at six hospital sites in southern Ontario, Canada.

The impact of health volunteering of radiology students on improving their self-skills and practical capabilities in the Kingdom of Saudi Arabia.

Background: Volunteering is a beneficial activity with a wide range of positive outcomes, from the individual to the communal level. In many ways, volunteering has a positive impact on the development of a volunteer's personality and experience. This study aimed to evaluate the impact of health volunteering on improving the self-skills and practical capacities of students in the western region of the Kingdom of Saudi Arabia.

Takotsubo cardiomyopathy and psychiatric illness- insight from National Inpatient Sample (NIS) and National Re-admission Database (NRD) 2016 to 2018.

Background: Emotional stress is a common precipitating cause of takotsubo cardiomyopathy (TC). Preexisting psychiatric disorder (PD) was linked to worsening outcomes in patients with TC. However, there is limited data in literature to support this.

Establishment of a local diagnostic reference level for computed tomography chest and abdomen in two different cities in Saudi Arabia.

Background And Aim: Spiral computed tomography (CT) scans, which are considered a high-contrast resolution, quick and cross-sectional imaging technique, have grown in popularity as a result of technological advancements. However, these advancements have brought with them the potential for significantly increased radiation doses to the patient. Consequently, many organizations recommended optimization and establishing diagnostic reference levels.

Monkeypox Virus: A Comprehensive Overview of Viral Pathology, Immune Response, and Antiviral Strategies.

Background: The years 2022-2023 witnessed a monkeypox virus (mpox) outbreak in some countries worldwide, where it exists in an endemic form. However, the number of infectious cases is continuously on the rise, and there has been an unexpected, drastic increase in cases that result from sustained transmission in non-endemic regions of the world. Under this scenario, it is pertinent for the world to be aware of healthcare threats to mpox infection.

Impact of gastrointestinal polymerase chain reaction panels on antibiotic utilization in hospitalized adult patients.

Multiplex stool polymerase chain reaction (PCR) panels offer rapid comprehensive testing for patients with infectious diarrhea. We compared antibiotic utilization among hospitalized patients with suspected infectious diarrhea who underwent diagnostic testing with either a stool culture or stool PCR panel. No significant differences in antibiotic utilization were identified.

Rationale, Design and Participants Baseline Characteristics of a Crossover Randomized Controlled Trial of the Effect of Replacing SSBs with NSBs versus Water on Glucose Tolerance, Gut Microbiome and Cardiometabolic Risk in Overweight or Obese Adult SSB Consumer: Strategies to Oppose SUGARS with Non-Nutritive Sweeteners or Water (STOP Sugars NOW) Trial and Ectopic Fat Sub-Study.

Background: Health authorities are near universal in their recommendation to replace sugar-sweetened beverages (SSBs) with water. Non-nutritive sweetened beverages (NSBs) are not as widely recommended as a replacement strategy due to a lack of established benefits and concerns they may induce glucose intolerance through changes in the gut microbiome. The STOP Sugars NOW trial aims to assess the effect of the substitution of NSBs (the "intended substitution") versus water (the "standard of care substitution") for SSBs on glucose tolerance and microbiota diversity.

Important food sources of fructose-containing sugars and adiposity: A systematic review and meta-analysis of controlled feeding trials.

Background: Sugar-sweetened beverages (SSBs) providing excess energy increase adiposity. The effect of other food sources of sugars at different energy control levels is unclear.

Objectives: To determine the effect of food sources of fructose-containing sugars by energy control on adiposity.