Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.

OBJECTIVES: To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease. METHODS: A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures. RESULTS: The mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients. CONCLUSION: The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.

Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience.

Purpose: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. Patients and methods: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia. This study included all patients diagnosed with NF1 using the revised NIH diagnostic criteria published in 2021 that were registered at the electronic medical records (EMR) from 2015 to 2021. Results: A total of 184 patients fulfilled the diagnostic criteria and were included in this study. The median age at diagnosis was 11 years (IQR: 4.00-20.25). The most encountered diagnostic criteria in this study were Café-au-lait macules (85.3%), and (42.9%) were found to have two or more neurofibromas with plexiform neurofibroma being the most common subtype (23.36%), approximately (36.4%) of the patient with optic pathway glioma. Nearby (26.6%) of the patients displayed different type of tumors. Iris Lisch nodules were presented in 36.4% of patients at a median age of 12 years (IQR: 9.0-21.8). Cardiovascular abnormality was encountered in 9.8% of the patients. Around 27.7% of the patients reported headache and 11.4% of the patient suffered from different type of epilepsy. Besides, 10.5% of the patients had intellectual disability, 33.8% suffered from communication disorders, and 4.9% patients had ADHD. Conclusion: The results of this study will enable practitioners to adopt a more holistic approach and prioritize numerous attributes, which they can subsequently incorporate into their therapeutic methodologies. Furthermore, the identification of these attributes will facilitate an expeditious and accurate diagnosis. Hence, the implementation of intervention during its nascent phase may result in a more advantageous consequence.

Practical techniques to enhance the safety of health care workers in office-based surgery.

BACKGROUND: Office-based surgery is commonly practiced in different specialties for a variety of procedures. During these procedures, the health care worker (HCW) is exposed to a large number of pathogens that can be bloodborne, including the hepatitis B virus (HBV), hepatitis C virus (HCV), and human immunodeficiency virus (HIV). These pathogens can be transmitted through needlesticks or sharp injuries to intact skin or by backsplash of contaminated body fluids onto mucous membranes or injured skin. OBJECTIVES AND CONCLUSIONS: This article reviews the published techniques designed to protect the HCW from such hazards. These techniques are classified into preoperative, intraoperative, and postoperative. Preoperative measures include general protective measures, organization of the surgical field, and consideration of alternative treatments in high-risk patients. Intraoperative techniques deal with safe handling and transferring of sharp instruments, working without using sharps, and protection from backspray injuries. Postoperative measures address proper disposal of used sharps.

Fish tank granuloma: misdiagnosed as cutaneous leishmaniasis.

Mycobacterium marinum is an atypical mycobacterium that causes a skin infection known as fish tank granuloma or swimming pool granuloma affecting people who are exposed to aquatic environments. In general, it is managed medically with antimicrobials and variable treatment protocols. Here, we report a Saudi gentleman who acquired this infection in Thailand and was misdiagnosed as cutaneous leishmaniasis. After establishing the correct diagnosis, treatment with minocycline and trimethoprim-sulfamethoxazole resulted in rapid healing.