Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.

Background: Calcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We delineate the spectrum of clinical phenotypes and the symptoms associated with a syndrome caused by an inherited gain-of-function mutation in CACNA1D in a family with a history of neuropsychiatric disorders. We also review the clinical and molecular phenotype of previously reported variants of CACNA1D. Case presentation: We report the case of a 9-year-old female patient, diagnosed with ASD, severe ID, hyperactivity, and aggressive impulsive behaviors. The father, who was a 65-year-old at the time of his death, had ID and developed major depressive disorder with catatonic features and nihilistic delusion, followed by rapidly progressive dementia. He died after experiencing prolonged seizures followed by post-cardiac arrest. The patient's sister was a 30-year-old woman, known to have a severe ID with aggressive behaviors and sleep disorders. The sister has been diagnosed with bipolar disorder and psychosis. Through whole exome sequencing, a heterozygous previously identified and functionally characterized missense likely pathogenic variant was identified in the CACNA1D gene NM_001128840.3: c.2015C > T (p.Ser672Leu). These findings are consistent with the genetic diagnosis of autosomal dominant primary aldosteronism, seizures, and neurological abnormalities. This variant was found in the heterozygous status in the patient, her father, and her affected sister. Conclusion: This case report will help to determine the key clinical features of this syndrome, which exhibits variable clinical presentations.

Phenotype and Genotype of Saudi Pediatric Patients With Neurofibromatosis Type 1: A Seven-Year Multicenter Experience From Saudi Arabia.

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.

A Decade's Perspective on the Orthopedic Workforce in Saudi Arabia.

Background The orthopedic surgery workforce constitutes a vital role in the healthcare system, with data being scarce. Therefore, through this study, we share an overview of the orthopedic workforce distribution, demographic trends, and changes over the past decade in Saudi Arabia. Methods All practicing orthopedic surgeons in Saudi Arabia from January 1, 2010, to December 31, 2021, were included in the study. Data regarding orthopedic surgeons' demographics and numbers were obtained from the Saudi Commission for Health Specialties (SCFHS), whereas the data related to the geographical distribution of orthopedic surgeons was obtained from the Ministry of Health Statistical Yearbook of 2020. Results The ratio of orthopedic surgeons per 100,000 people was 5.42 in 2010, which grew subsequently to 12.29 in 2021. The number of Saudi orthopedic surgeons has been noticeably rising through the years, while a slowly growing pattern can be seen among non-Saudi orthopedic surgeons. In addition, the highest ratios of orthopedic surgeons per 100,000 were in Makkah (1.72), Riyadh (1.26), and the Eastern Region (1.06). Conclusion In this study, we demonstrate the progress of the orthopedic workforce in Saudi Arabia over a period of 12 years. The number of orthopedic surgeons per 100,000 people showed a significant rise due to several factors, one of which is road traffic accidents. Also, although the number of female orthopedic surgeons has been rising lately, they are still much fewer than males in this field. In addition, Saudi Arabia has been developing a new healthcare system via the privatization of some of the governmental hospitals, which will lead to changes in the future workforce and its accommodations.

Bronchial Asthma Exacerbation in the Emergency Department in a Saudi Pediatric Population: An Insight From a Tertiary Hospital in Riyadh, Saudi Arabia.

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.