ABSTRACT
Background Neurofibromatosis type 1 (NF1) is a complex disorder. Genetics and environment might be attributed as the leading cause of NF1, which is characterized by multisystemic involvement. We aim to elaborate on Saudi children's NF1 phenotypes and genotypes. Methods This study was conducted in the Ministry of National Guard Health Affairs (MNGHA), Saudi Arabia including three tertiary hospitals, using a retrospective cohort method. Electronic charts were reviewed to extract the variables. All Saudi pediatric patients aged less than 18 with NF1 were included. Consecutive sampling was used due to the limited number of patients. Results The study included 160 patients (81 males) with an average age of 8.08 years. Also, 33 (20.6%) patients had cutaneous neurofibroma while 31 (19.4%) patients had plexiform neurofibromas. Iris lisch nodules were seen in 33.75%. Optic pathway glioma was seen in 29 (18%) cases while non-optic pathway glioma was seen in 27 (17%) cases. Skeletal abnormalities were seen in 27 (17%) of cases. A first-degree relative with NF1 was seen in 83 (52%) of cases. Epilepsy was the presenting feature of 27 (17%) cases. Cognitive impairment was found in 15 (9.4%) patients. Genetic mutation was seen in 82/100 cases, the rest were negative. The types of mutations were as follows: nonsense 30 (36.6%); missense 20 (24.4%); splicing site mutation 12 (14.6%); frameshift 10 (12.2%); microdeletion 7 (8.5%); and whole gene deletion 3 (3.75%) patients. No phenotype-genotype correlation was seen. Conclusion In this cohort of Saudi pediatric patients with NF1, optic pathway glioma and other brain tumors were prevalent. The most common mutation is the nonsense mutation.
ABSTRACT
Background Severe uncontrolled asthma in the pediatric population is a complicated disease and is considered a major challenge for pediatricians. Severe bronchial asthma in the pediatric population is related to significant morbidity and mortality. Children with complicated asthma are at a higher risk for unfavorable outcomes, including medication-associated adverse effects, severe life-threatening exacerbations, and poor quality of life. Methodology A cohort study was conducted at National Guard Health Affairs Hospital in Riyadh, Saudi Arabia. Data were collected using the chart review method utilizing a data collection sheet. A total of 363 charts of children aged one month to 14 years who visited the emergency room (ER) due to asthma exacerbation at NGHA were reviewed, from January 2016 to May 2022, to extract the variables. Variables included demographic data, comorbidities, and asthma-related variables which included the number of asthma exacerbations, hospital admission, ER visit, medication use (non-steroidal anti-inflammatory drugs and steroids), and the presence of allergic rhinitis and eczema. Results A total of 363 patients were analyzed, with 229 (63.1%) males and 134 (36.9%) females. The mean age was 4.9 years (SD = 3.5 years). Overall, 8.5% of patients had congenital heart disease, 4.1% had gastroesophageal reflux disease, 2.2% had diabetes mellitus, 1.9% had obstructive sleep apnea, and 0.6% had hypertension. Most patients presented with a cough at 88.2% (n = 320), followed by shortness of breath at 59% (n = 214) and fever at 46% (n = 167). Male asthmatics visited ER more than females. Forty-four patients were admitted to the hospital. Inhaled steroids were associated with fewer emergency department visits and night symptoms. Most asthmatic patients presented in the winter and fall seasons. Conclusions Asthma is a common pediatric respiratory disease that could be a burden if not controlled well. Unfortunately, the frequency of hospital admissions and pediatric ER visits due to asthma exacerbation is increasing. Comorbidities such as obesity and gastroesophageal reflux disease play a significant role in asthma control.
