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This paper presents the development and validation of a high-resolution full scan (FS) electron impact ionization (EI) gas chromatography coupled to quadrupole Time-of-Flight mass spectrometry (GC/QTOF) platform for screening anabolic androgenic steroids (AAS) in human urine samples. The World Antidoping Agency (WADA) enlists AAS as prohibited doping agents in sports, and our method has been developed to comply with the qualitative specifications of WADA to be applied for the detection of sports antidoping prohibited substances, mainly for AAS. The method also comprises of the quantitative analysis of the WADA’s Athlete Biological Passport (ABP) endogenous steroidal parameters. The applied preparation of urine samples includes enzymatic hydrolysis for the cleavage of the Phase II glucuronide conjugates, generic liquid–liquid extraction and trimethylsilyl (TMS) derivatization steps. Tandem mass spectrometry (MS/MS) acquisition was applied on few selected ions to enhance the specificity and sensitivity of GC/TOF signal of few compounds. The full scan high resolution acquisition of analytical signal, for known and unknown TMS derivatives of AAS provides the antidoping system with a new analytical tool for the detection designer drugs and novel metabolites, which prolongs the AAS detection, after electronic data files’ reprocessing. The current method is complementary to the respective liquid chromatography coupled to mass spectrometry (LC/MS) methodology widely used to detect prohibited molecules in sport, which cannot be efficiently ionized with atmospheric pressure ionization interface. [ABSTRACT FROM AUTHOR]

Hypoxic-ischemic encephalopathy (HIE) affects 1-2 per 1000 term live births, often resulting in severe long-term disabilities. Therapeutic hypothermia (TH) is the standard care in developed countries, but high costs of modern cooling devices necessitate low-cost alternatives. This study compares passive cooling with active machine cooling regarding short-term renal outcomes, specifically acute kidney injury (AKI), in neonates with HIE. This retrospective study was conducted at Dr. Soliman Fakeeh Hospital's neonatal intensive care unit from 2019 to 2023. The study analyzed patient demographics, clinical outcomes, and laboratory data (sodium, potassium, urea, and creatinine) to assess AKI. Treatment involved whole-body cooling at 33.5-34.5°C for 72 hours, followed by gradual rewarming. A total of 39 neonates were included in the study. Both cooling methods showed similar short-term renal outcomes, with no statistically significant differences in creatinine levels between the groups at baseline, 24 hours, 72 hours, or discharge. A trend of higher creatinine levels in the passive cooling group was observed, but it did not reach statistical significance. The median length of hospital stay was longer in the passive cooling group, though this difference was marginally nonsignificant. Long-term follow-up revealed no significant differences in chronic kidney disease incidence or neurodevelopmental outcomes between the groups. This study found no significant differences in both short-term renal outcomes and long-term effects between passive and active cooling methods in neonates with HIE. However, the trend of higher creatinine levels in the passive cooling group suggests the need for further investigation with larger sample sizes and extended follow-up to clarify the long-term effects of cooling methods on renal and neurodevelopmental outcomes in neonates with HIE.

Background: The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) aims to standardize the terminology and morphologic criteria associated with thyroid fine-needle aspiration cytology (FNAC) results while also providing corresponding risk assessments for malignancy. contributing to more consistent and standardized reporting of thyroid nodules and aiding clinicians in making informed decisions. Since then, it has been undergoing revisions and updates to further improve its utility and accuracy., Materials and Methods: This is a retrospective study conducted at a tertiary care center. All patients with a history of thyroid gland swelling who had previously undergone FNA were included. The procedure included cytopathologists performing FNAC for all cases of midline neck swelling. Demographic and histopathology data were correlated with the cytological diagnosis., Results: We included 288 cases. Of those, 234 (81.3%) were female and 54 (18.8%) were male. The presentation age range was 18-91 years. The most reported category was benign, which constituted 30.9% of the cases followed by malignancy (27.1%). As for thyroid lesions, papillary carcinoma was the most prevalent (43.6%). The correlation on cyto-histopathology was presented in every diagnostic category, showing high heterogeneity in diagnostic specificity and sensitivity. The overall diagnostic specificity and sensitivity were 56.05% (95% confidence interval [CI]: 47.92-63.95%) and 80.92% (95% CI: 73.13-87.25%), respectively. Positive and negative predictive values were 60.57% and 77.88%, respectively., Conclusion: Our data suggests that the TBSRTC system promotes similar sensitivity and specificity to those reported elsewhere. It standardizes reporting and improves communication between cytopathologists and clinicians., Competing Interests: There are no conflicts of interest., (Copyright: © 2024 Journal of Family Medicine and Primary Care.)

Background: Drug-resistant epilepsy (DRE) impacts a significant portion, one-third, of individuals diagnosed with epilepsy. In such cases, exploring non-pharmacological interventions are crucial, with the ketogenic diet (KD) standing out as a valuable option. KD, a high-fat and low-carb dietary approach with roots dating back to the 1920s for managing DRE, triggers the formation of ketone bodies and modifies biochemistry to aid in seizure control. Recent studies have increasingly supported the efficacy of KD in addressing DRE, showcasing positive outcomes. Furthermore, while more research is needed, limited data suggests that KD May also be beneficial for specific genetic epilepsy syndromes (GESs)., Objective: This study aimed to assess the short-term efficacy of KD among pediatric patients diagnosed with GESs., Materials and Methods: This is a multi-center retrospective analysis of pediatric patients with GESs diagnosed using next-generation sequencing. The enrolled patients followed the keto-clinic protocol, and the KD efficacy was evaluated at 3, 6, and 12-month intervals based on seizure control and compliance. The collection instrument included demographic, baseline, and prognostic data. The collected data was coded and analyzed promptly., Results: We enrolled a cohort of 77 patients with a mean current age of 7.94 ± 3.83 years. The mean age of seizure onset was 15.5 months. Notably, patients experienced seizures at a younger age tended to have less positive response to diet. Overall, 55 patients responded favorably to the diet (71.4%) while 22 patients (28.6%) showed no improvement. Patients with genetic etiology showed a significantly more favorable responses to the dietary intervention. Patients with Lennox-Gastaut syndrome showed the most significant improvement (14/15) followed by patients with Dravet syndrome (6/8), and West syndrome (3/4). The number of used anti-seizure medications also played a significant role in determining their response to the diet. While some patients experienced mild adverse events, the most common being constipation, these occurrences were not serious enough to necessitate discontinuation of the diet., Conclusion: The study revealed a high improvement rate in seizure control, especially among younger patients and those with later seizure onset. The success of dietary treatment hinges greatly on early intervention and the patient's age. Certain genetic mutations responded favorably to the KD, while efficacy varied among various genetic profiles., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Muthaffar, Alyazidi, Alsowat, Alasiri, Albaradie, Jad, Kayyali, Jan, Bamaga, Alsubaie, Daghistani, Baeesa, Alaifan, Makraz, Alsharief and Naseer.)

Sodium channelopathies are genetic disorders caused by mutations in genes, including sodium voltage-gated channel alpha subunit 1 ( SCN1A) , that lead to several epilepsy syndromes. Traditional treatments with sodium channel blockers often have limited effectiveness and side effects. Dravet syndrome (DS), a severe epilepsy starting in infancy, presents significant treatment challenges. Perampanel (PER), a noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist, has shown promise for DS, reducing seizure frequency and improving quality of life (QoL). The limited availability of randomized controlled trials on PER among DS is challenging, but broader studies on refractory epilepsies offer insights. Real-world studies support PER's efficacy, underscoring its potential for managing refractory seizures in DS. Studies showed long-term effectiveness in reducing seizure frequency and enhancing QoL. While PER has minimal impact on cognitive development, it significantly improves seizure control. Numerous studies confirm the use of PER as an effective adjunctive treatment for DS; however, it is crucial to observe the safety profile, especially for pediatric sodium channelopathy patients. Common side effects include dizziness, drowsiness, and irritability, necessitating careful management. Long-term safety is generally favorable, but monitoring for behavioral and mood changes is essential. Additionally, the response to PER in DS varies widely, complicating its use. The limited clinical data and the need for careful dosage monitoring, especially in children, present significant challenges. Side effects, potential drug interactions, and high costs further complicate treatment. Despite increasing attention to its cost-effectiveness, accessibility remains limited in some regions, posing significant barriers for many families. In this paper, we review the role of PER in treating pediatric patients with DS, emphasizing clinical evidence and practical considerations., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Alyazidi et al.)

Background: With the advancement of next-generation sequencing, clinicians are now able to detect ultra-rare mutations that are barely encountered by the majority of physicians. Ultra-rare and rare diseases cumulatively acquire a prevalence equivalent to type 2 diabetes with 80% being genetic in origin and more prevalent among high consanguinity communities including Saudi Arabia. The challenge of these diseases is the ability to predict their prevalence and define clear phenotypic features., Methods: This is a non-interventional retrospective multicenter study. We included pediatric patients with a pathogenic variant designated as ultra-rare according to the National Institute for Clinical Excellence's criteria. Demographic, clinical, laboratory, and radiological data of all patients were collected and analyzed using multinomial regression models., Results: We included 30 patients. Their mean age of diagnosis was 16.77 months (range 3-96 months) and their current age was 8.83 years (range = 2-15 years). Eleven patients were females and 19 were males. The majority were of Arab ethnicity (96.77%). Twelve patients were West-Saudis and 8 patients were South-Saudis. SCN1A mutation was reported among 19 patients. Other mutations included SZT2, ROGDI, PRF1, ATP1A3, and SHANK3. The heterozygous mutation was reported among 67.86%. Twenty-nine patients experienced seizures with GTC being the most frequently reported semiology. The mean response to ASMs was 45.50% (range 0-100%)., Conclusion: The results suggest that ultra-rare diseases must be viewed as a distinct category from rare diseases with potential demographic and clinical hallmarks. Additional objective and descriptive criteria to detect such cases are needed., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Muthaffar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Infectious diseases are among the most frequent causes of hospital admission and a substantial contributor to morbidity and mortality. These diseases pose a persistent concern, particularly within the pediatric population, where delays or inappropriate management can result in serious harm. Additionally, infectious diseases contribute to overcrowding in pediatric emergency departments (EDs). This study aimed to explore the epidemiology, clinical presentation, diagnostics, outcome, and social and behavioral impacts of infectious diseases on child health. We conducted a retrospective, single-hospital study at a tertiary care center that is publicly funded and owned to serve the entire community. Pediatric patients with at least one or more chief complaints related to the respiratory system or infectious etiology were included. Data analysis was performed using SPSS to assess relationships between variables. A total of 15,106 patients were included, with a mean age of 3.80 years. The largest age group was toddlers (42.8%). Most cases (71.9%) were classified as urgent (Priority 3). Regarding patient outcomes, 76.1% were discharged after receiving appropriate treatment in the ED, and 22.9% required admission for further management. Nearly 38% of patients presented with a single complaint. Fever was the most frequent complaint across all groups. In summary, this study provides insights into the presentation of pediatric respiratory infectious diseases in the emergency room. The study revealed that toddlers were the most affected age group, with fever and cough being the common symptoms., Competing Interests: The authors declare no conflict of interest., (© 2024 The Author(s).)

Epilepsia partialis continua (EPC) is a rare type of focal motor seizure characterized by continuous, involuntary muscle contractions in a specific part of the body. These contractions usually involve rhythmic, twitching movements and can last for several hours to days. The seizures are usually limited to one part of the body and can be clonic or dystonic. EPC can affect people of all ages but is more common in children and adolescents. The pathophysiology of EPC is complex and depends on the cause. There are several possible causes of EPC including structural brain abnormalities, infections, metabolic and genetic disorders, inflammatory conditions, traumatic brain injury, and vascular causes. The work-up of EPC includes electroencephalography (EEG), magnetic resonance imaging (MRI) of the brain, position emission tomography (PET) scan of the brain, autoimmune antibodies, infection work-up, and metabolic and genetic work-up. The management of EPC can be challenging. Antiseizure medications (ASDs) including benzodiazepines are an integral part of the management of EPC. Immunotherapy trials are recommended in resistant cases. Epilepsy surgery is one of the effective modalities in some surgically amenable cases. This article reviews the topic of EPC and summarizes diagnostic and .treatment recommendations., (Copyright: © Neurosciences.)

Background: In 1978, Charlotte Dravet first described a form of epilepsy termed Dravet syndrome (DS). It is a form of genetic epilepsy with early-onset, intractable epilepsy episodes, and neurodevelopmental delay. In children, DS can lead to refractory seizures that are resistant to standard therapy. Recently, perampanel (PER) was approved as an antiepileptic drug for patients as young as 4 years old., Methods: The medical records were retrospectively reviewed and patients with DS who used PER were included in this study. The diagnosis was established using whole-exome sequencing, and the collected data included the patients' demographic characteristics, seizure pattern, PER dosage, laboratory and imaging findings., Results: This study included 18 pediatric patients with a clinical diagnosis of DS. The mean age of PER initiation was 7.67±3.865. Most patients had two types of seizures (61.1%) followed by three types (22.2%), with generalized tonic-clonic being the most frequently reported type of seizure. The mean efficacy of PER was 29.17%±29.368%, and only one patient had an efficacy of 100%. Moreover, patients aged 8 years and younger presented with higher efficacy than those who were older (49.17%±34.120% vs. 19.17%±21.829%, P=0.03)., Conclusions: This study presented supporting evidence of the promising therapeutic effect of PER among patients with DS. PER can be considered one of the treatment options for this group of patients. However, several patients presented with unfavorable side effects that led to medication cessation. Future multicenter studies are required to explore further treatment options for patients with DS., Competing Interests: Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tp.amegroups.com/article/view/10.21037/tp-23-581/coif). The authors have no conflicts of interest to declare., (2024 Translational Pediatrics. All rights reserved.)

Sanfilippo syndrome is a childhood-onset (1-4 years) autosomal recessive lysosomal storage disease that presents as a neurodegenerative disease by targeting the brain and spinal cord. It is also known as mucopolysaccharidosis III. Mucopolysaccharidosis III is divided into four subtypes (A, B, C, or D). It can cause delayed speech, behavior problems, and features of autism spectrum disorder. Sanfilippo syndrome is of a higher prevalence within consanguineous families that carry its gene alteration. If both parents have a nonfunctional copy of a gene linked to this condition, their children will have a 25% (1 in 4) chance of developing the disease. In Saudi Arabia, the incidence rate is estimated at 2 per 100,000 live births. Recent research focused on promising treatment approaches, such as gene therapy, modified enzyme replacement therapy, and stem cells. These approaches work by exogenous administration of the proper version of the mutant enzyme (enzyme replacement therapy), cleaning the defective enzyme in individuals with glycolipid storage disorders (substrate reduction therapy), or using a pharmacological chaperone to target improperly folded proteins. However, there is currently no approved curative medication for Sanfilippo syndrome that can effectively halt or reverse the disorder., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Alyazidi et al.)

Background: ATP1A3 is a gene that encodes the ATPase Na + /K + transporting subunit alpha-3 isoenzyme that is widely expressed in GABAergic neurons. It maintains metabolic balance and neurotransmitter movement. These pathways are essential for the proper functioning of the nervous system. A mutation in the ATP1A3 gene demonstrates remarkable genotype-phenotype heterogeneity., Objectives: To provide insight into patients with ATP1A3 mutation., Material and Methods: These cases were identified using next generation sequencing. The patients' clinical and genetic data were retrieved. Detailed revision of the literature was conducted to illustrate and compare findings. The clinical, genetical, neuroimaging, and electrophysiological data of all pediatric patients were extracted., Results: The study included 14 females and 12 males in addition to two novel females cases. Their mean current age is 6.3 ± 4.24 years. There were 11.54% preterm pregnancies with 5 cases reporting pregnancy complications. Mean age of seizure onset was 1.07 ± 1.06 years. Seizure semiology included generalized tonic-clonic, staring spells, tonic-clonic, and others. Levetiracetam was the most frequently used Anti-seizure medication. The three most frequently reported classical symptoms included alternating hemiplegia of childhood (50%), cerebellar ataxia (50%), and optic atrophy (23.08%). Non-classical symptoms included dystonia (73.08%), paroxysmal dyskinesias (34.62%), and encephalopathy (26.92%). Developmental delay was reported among 84.62% in cognitive, 92.31% in sensorimotor, 80.77% in speech, and 76.92% in socioemotional. EEG and MRI were non-specific., Conclusion: Our study demonstrated high heterogeneity among patients with pathogenic variants in the ATP1A3 gene. Such variation is multifactorial and can be a predisposition of wide genetic and clinical variables. Many patients shared few similarities in their genetic map including repeatedly reported de novo, heterozygous, mutations in the gene. Clinically, higher females prevalence of atypical presentation was noted. These findings are validated with prior evidence and the comprehensive analysis in this study., (© 2024. The Author(s) under exclusive licence to The Genetics Society of Korea.)

Introduction Child abuse and neglect (CAN) affects many countries, including Saudi Arabia (SA). CAN in SA is more commonly detected in hospitals. Therefore, healthcare professionals must identify and report the cases. This study aims to assess knowledge and perceptions toward CAN among training physicians. Methodology A cross-sectional survey was conducted through a self-administrated structured questionnaire and involved 123 residents and fellows who deal with children in Jeddah, SA. The participants were recruited using convenient sampling methods. Descriptive statistics, t-test, and Chi-square test were used for statistical analysis. Results We found that approximately 78% would report their findings to the legal authority, document them, and assess their consistency with parents and the child's explanation. However, only 41.5% of the participants would report CAN to the proper authority. Most participants believed that CAN should be redefined according to Saudi culture and religious standards. In contrast, 68.9% of the participants believed that CAN cases are under-reported in SA. The main barrier to not reporting is the fear of consequences (63.4%). About 77% of the participants agreed to the need for further training. Identifying the CAN indicators was higher among those who handled a CAN case previously (median = 66.67, p = 0.023). Conclusions In conclusion, the study showed that appropriate undergraduate and postgraduate curriculum training should be developed to strengthen future healthcare practitioners in dealing with CAN cases to protect children's welfare., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Alyoubi et al.)

Giant axonal neuropathy (GAN) is a rare, inherited neurodegenerative disease that affects both the central and peripheral nervous systems. It is mostly characterized by a progressive loss of motor and sensory function, which can begin in early childhood. GAN is thought to be caused by a mutation in the GAN gene on chromosome 16q24.1. We report a seven-year-old Saudi male child with GAN who was diagnosed using whole-exome sequencing. The child presented with a history of progressive weakness and muscle wasting in the arms and legs as well as difficulty walking. The sequencing identified a mutation in the GAN gene (NM_022041.3: c.1456G>A). Electrodiagnostic studies showed evidence of diffuse axonal motor and sensory polyneuropathy involving cranial nerves. This case report adds to the growing evidence that whole-exome sequencing can be a useful tool for diagnosing rare inherited neuromuscular disorders. It also highlights the importance of early diagnosis and intervention for this condition., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Bamaga et al.)

Objective: Analyze the treatment modalities used in real practice by synthesizing available literature. Methods: We reviewed and evaluated 52 cases of GAMT deficiency including 4 novel cases from Saudi Arabia diagnosed using whole-exome sequencing. All data utilized graphical presentation in the form of line charts and illustrated graphs. Results: The mean current age of was 117 months (±29.03) (range 12-372 months). The mean age of disease onset was 28.32 months (±13.68) (range 8 days - 252 months). The most prevalent symptom was developmental delays, mainly speech and motor, seizures, and intellectual disability. The male-to-female ratio was 3:1. Multiple treatments were used, with 54 pharmacological interventions, valproic acid being the most common. Creatinine monohydrate was the prevalent dietary intervention, with 25 patients reporting an improvement. Conclusion: The study suggests that efficient treatment with appropriate dietary intervention can improve patients' health, stressing that personalized treatment programs are essential in managing this disorder., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)

Background and Aims: Throughout their years of study, undergraduate medical students are expected to gain broad comprehension of all medical specialties. After acquiring an undergraduate degree, the decision to choose a specialty is critical for every student's life as it determines the rest of their career path. This study aims to determine factors influencing medical students' choices between various specialties in different countries in the Middle East and North Africa., Subjects and Methods: A cross-sectional study was conducted in March 2022 targeting medical students from the Middle East and North African countries. A questionnaire was used to collect data from the students, which consisted of four sections. Ethical approval was obtained from the Unit of Biomedical Ethics Research Committee at King Abdulaziz University. Participation was voluntary and anonymous. For statistical analysis, IBM Statistical Package for the Social Sciences (SPSS) Statistics for Windows (Version 21.0; IBM Corp., Armonk, NY, USA) was used. Categorical variables were presented using numbers, associated frequencies, and percentages (%). Categorical variables were correlated using the Chi-square test. One-way analysis of variance (ANOVA) test was used to compare the means of three or more independent groups. Logistic regression, odds ratio (OR), and 95% confidence interval (CI) were used to identify the factors associated with specialty selection. P < 0.05 was considered statistically significant., Results: A total of 1109 students responded to the questionnaire. Participants' gender characteristics showed that there were 672 (60.6%) females and 437 (39.4%) males. Among them, 127 were in their second year, 180 in their third year, 362 in their fourth year, 85 in their fifth year, 37 in their sixth year, and 108 were interns. The median age of the participants was 22.0 years (mean = 22.09 ± 2.891). There were 473 (42.6%) students who were undecided about their future medical specialty. Income (759, 68.4%) and career prospects (723, 65.2%) were the most preferred factors in their decision to pursue a future medical specialization., Conclusions: In conclusion, medical and surgical specialties have been identified as the preferred future career path. It was discovered that student's decision-making is influenced by income, career prospects, and the sense of competency needed to choose a future medical specialty. Future research would be more revealing., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Journal of Family Medicine and Primary Care.)

Primary pseudotumor cerebri syndrome (PPTS) is a rare disorder of elevated intracranial pressure (ICP) in the absence of an identifiable underlying etiology. Afflicted patients are usually obese women in their reproductive age presenting with symptoms of elevated ICP. Seldom, patients can present with an encephalocele. We reported a case of a 31-year-old female who initially presented to our center with complaints of headaches, foreign body sensation in the nasal cavity, and decreased ability to smell. Brain computed tomography (CT) scan showed a large intranasal encephalocele and defect along the frontal skull base, through which brain tissue was herniating. The patient was successfully treated surgically by implantation of a lumboperitoneal shunt to manage the high ICP caused by her PPTS. In combination, reconstruction of the frontal skull base defect for the encephalocele was performed. Currently, the patient is doing well despite some on-and-off headaches., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Hamad et al.)

Background: The seizure threshold 2 ( SZT2 ) gene encodes a protein of unknown function, which is widely expressed, confers a low seizure threshold, and enhances epileptogenesis. It also comprises the KICSTOR protein complex, which inhibits the mTORC1 pathway. A pathogenic variant in the SZT2 gene could result in hyperactive mTORC1 signaling, which can lead to several neurological disorders., Aim of the Study: To review every reported case and present two novel cases to expand the current knowledge and understanding of the mutation., Methods: Whole exome sequencing (WES) was used to identify the novel cases and present their clinical and radiological findings. A detailed revision of the literature was conducted to illustrate and compare findings. The clinical, genetical, neuroimaging, and electrophysiological data were extracted., Results: The study included 16 female patients and 13 male patients in addition to the 2 novel male cases. Eighteen patients had heterozygous mutations; others were homozygous. The majority presented with facial dysmorphism ( n = 22). Seizures were noted as the predominant hallmark ( n = 26). Developmental delay and hypotonia were reported in 27 and 15 patients, respectively. The majority of patients had multifocal epileptiform discharges on the electroencephalogram (EEG) and short and thick corpus callosum on the magnetic resonance imaging (MRI)., Conclusion: Several promising features are becoming strongly linked to patients with SZT2 mutations. High variability among the cases was observed. Developmental delay and facial dysmorphism can be investigated as potential hallmarks; aiding clinicians in diagnosing the condition and optimizing management plans.

Background Neurological diseases entail a broad spectrum of disorders. Among such ailments are epilepsy and neuromuscular disorders which impose a substantial burden on children and their families. Ensuring adequate access to outpatient services is crucial for these children regardless of the subclinical specialty, and clinicians can better comprehend the caregivers' perspectives by being aware of their backgrounds which can be aided using epidemiological studies. Methods In June 2023, a cross-sectional study was carried out in pediatric neurology clinics at a tertiary care center. The study included all families with a child or more (14 years and younger) diagnosed with neurological disorders. The study adopted a three-section survey delivered to participants recruited using a non-probability sampling technique to achieve a 95% confidence interval with a 5% margin of error. Results A total of 821 families participated in this study. The mean age of respondents was 40.46±8.72 years. Of the affected children, there were 600 (73.08%) children following up with the general neurology and epilepsy clinics, 164 (19.98%) were following up with the neuromuscular disorders clinics, and 57 (6.94%) were following up with the neurogenetic clinics. Familial status had no association with the type of clinic the patient was following up with p =0.0054. Single respondents had a significantly higher prevalence of children with epilepsy ( p <0.0001). Parents with a high school level of education or lower had a significantly greater prevalence of epilepsy clinic follow-ups ( p =0.0048). Conclusion The findings of this study contribute to the assessment of prevalent neurological disorders in children and shed light on the family dynamics surrounding these conditions. Through statistical analysis, the study establishes connections between certain demographic and clinical traits and specific neurological disorders among pediatric patients and their families. The study emphasizes the importance of socio-economic and socio-clinical support in promoting child health in such cases. Similar research would offer a more accurate portrayal of the challenges faced by families in these circumstances., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Bamaga et al.)

Background: The medical workforce plays a pivotal role in advancing human health, particularly within the healthcare system of Saudi Arabia. While government-employed healthcare providers form the central structure of the system and offer free healthcare services, the private healthcare sector is also witnessing significant growth. In parallel, the field of child neurology has experienced notable transformations in recent years, with continued expansion. This expansion brings forth a range of challenges for both current and future pediatric neurologists, necessitating careful consideration and proactive measures to address them., Aim of the Study: To investigate and analyze the current characteristics of the workforce, with a specific focus on their employment status and related data., Methods: This is a cross-sectional analysis, using a survey to assess the distribution of pediatric neurologists in Saudi Arabia (SA). The final analytical sample included 82 subjects, working in 13 regions in SA. A descriptive analysis was used to address the study question., Results: The survey received responses from a total of 82 pediatric neurologists in Saudi Arabia (response rate 55%), with 38 (46%) being men and 44 (54%) being women. The mean age was 33 ± 1.225 years. The majority of participants practiced in major cities such as Riyadh and Jeddah. Nearly 50% of pediatric neurologists experienced some form of delay in obtaining their first job, ranging from 1 to 36 months., Conclusion: The landscape of the pediatric neurology workforce is currently witnessing noteworthy demographic shifts. With the majority of practitioners concentrated in major cities, there is an ongoing demand for qualified professionals in peripheral areas. This study describes the real-life challenges faced by pediatric neurologists, particularly the delay in securing employment after graduation, and underscores the critical importance of addressing these persistent issues along the journey of pediatric neurology.

Background and objective Ramadan is the Muslim's holiest month; it is a time when believers engage in special practices that include fasting from dawn till dusk and making cultural and dietary modifications in their everyday lives. The impact of Ramadan on human activity, sleeping patterns, and circadian rhythms of hormones have been addressed in the literature. Fasting, which constitutes the main pillar of practices during Ramadan and lasts from sunrise to sunset, can significantly affect common health conditions, leading many to seek medical care in the Emergency Department (ED). Hence, it is important to understand the pattern of ED visits and understand the impact caused by fasting during this holy month in a Muslim-majority country. In light of this, this study aimed to gather new insights into the pattern of ED visits during Ramadan at a busy tertiary care center in the period from 2019 to 2021. Methods This study was conducted by reviewing the hospital health information system to gather relevant information in May 2022. Data of patients who visited the ED during Ramadan were collected, as well as during a month prior to and after Ramadan for the purpose of comparison. Sociodemographic characteristics and clinical profiles were collected for analysis.  Results The total number of ED visits in the three months of Ramadan during the study period (three years) was 33,142, all of which were included in our analysis. Sociodemographic data were analyzed for patients who visited the ED during the month of Ramadan and the two lunar months that precede and succeed Ramadan (Shaban and Shawal). Fever was the most common complaint (16.5%), followed by abdominal pain (14%). When analyzing the findings based on patient age groups, fever was found to be the most prevalent complaint in both adults (15.6%) and pediatric patients (34.4%). Of the total ED patient visits, 7,527 patients were admitted for further care, and 197 patients deceased. Conclusion Our study findings illustrate the change in ED visit patterns during the month of Ramadan in a Muslim-majority country. Also, the type of complaints was affected significantly due to the ongoing coronavirus disease 2019 (COVID-19) pandemic during the study period. The outcomes in patients reflected substantial progress and outcomes in the ED. These findings highlight that analyzing ED data can help provide accurate information that can be used to help modify/adjust the quality of services provided in the ED. However, these modifications may affect all hospital facilities, not just the ED., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Khojah et al.)

Apraxia of eyelid closure (AEC) is a rare disorder characterized by the inability to close the eyes on command with the preservation of the motor and sensory systems, coordination, comprehension, and cooperation. The prevalence of AEC is extremely small and the exact pathophysiological mechanisms underlying this condition remain unknown. It is, however, associated with extrapyramidal disorders. Very few cases of bilateral AEC have been reported. We report a case of an 81-year-old male patient having multiple comorbidities including neurological, respiratory, and abnormalities complicated by COVID-19 infection, who developed AEC that was noticed by the caregiver. We illustrate the clinical course leading to the diagnosis of bilateral AEC and highlight the important role of the caregiver in reporting subtle signs such as AEC., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Journal of Family Medicine and Primary Care.)

Background Approximately 50 million people globally suffer from epilepsy. The prevalence of epilepsy in Saudi Arabia has been reported at 6.5 per 1,000 persons, affecting nearly 1% of the entire population. However, limited data is available in the country regarding the sociodemographic factors affecting epilepsy and its associated postictal symptoms, which may lead to stigmatization and negatively impact patients. Methods A cross-sectional study was conducted at King Abdulaziz University Hospital (KAUH) in a survey format. Ethical approval was obtained from the Research Ethics Committee of the Faculty of Medicine at King Abdulaziz University. The study population included patients with epilepsy who visited King Abdulaziz University Hospital's outpatient neurology clinics from October 2021 to March 2022. Results The study participants' average age at the time of the first seizure was 16.5 years, with patients experiencing seizures as early as within the first year of life and as late as 70 years of age. Patients who had had their first seizure during the first year of life did not have any schooling (p<0.0001) and had learning difficulties (p<0.00001). Focal onset impaired awareness seizures were significantly associated with motor weakness (p=0.023) and mood alterations (p=0.014), while postictal fear, anxiety or panic, and sleep disruption were statistically significant for focal onset aware seizures (p=0.015 and p=0.050). Conclusion This study highlights the sociodemographic differences between patients in Saudi Arabia and in other areas. It may also point to novel findings regarding the postictal symptoms associated with the various seizure types., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alyoubi et al.)

Background Seizures constitute a serious public health concern, especially in pediatric patients. They are among the most prevalent medical issues affecting children. Magnetic resonance imaging (MRI) is a widely used imaging modality to evaluate, assess, and follow up on brain abnormalities. Objectives The purpose of the study is to explore the clinical findings of pediatric patients with seizures and their associated findings on MRI examinations. Material and methods A retrospective cohort study was conducted between 2021 and 2022 at King Abdulaziz University Hospital (KAUH). A total of 171 pediatric patients (ages 1-14 years old) who had seizures and underwent brain MRI examinations were included in the study. The mean age of the group was two years. Results Focal seizures represented the majority of seizure types in 62 (60.2%) patients compared to 42 patients who presented with generalized seizures and 67 patients who presented with normal findings based on magnetic resonance imaging (MRI) analysis. The most common finding in imaging was the presence of developmental anomalies, which were found in 31 (18.5%) patients. This was followed by hypoxic-ischemic injury in 12 patients, vascular abnormalities in 10 patients, inherited metabolic disorders in nine patients, and infection-related findings in six patients. Conclusion MRI has an invaluable role in managing pediatric patients with seizures. Accurate diagnosis of patients is an essential step for delivering proper care to patients. MRI is considered the main imaging modality to establish a correct diagnosis and thereby improve prognosis, and electroencephalogram (EEG) should be taken into account during standard neurodiagnostic testing., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alyoubi et al.)

Introduction The social acceptance of patients with epilepsy is largely determined by society's opinion of epilepsy; therefore, individuals with epilepsy could face prejudice and stigma as a result of negative impressions. Religious beliefs and mystical notions have been shown to influence attitudes toward epilepsy. Health fatalism could also be detrimental to society's and caregivers' approach toward such patients. In extreme settings, this could hinder them from obtaining an adequate treatment process. Methods A cross-sectional exploratory study was conducted from February 2022 to May 2022 in Saudi Arabia, Spain, Scotland, and Italy using an online questionnaire consisting of 33 questions concerning the Health Fatalism Scale (HFS), the Epilepsy Knowledge Scale (EKS), and the Epilepsy Attitude Scale (EAS). Results A total of 735 health science students (HSS) participated in the present study. The majority of participants were females (64.1%) while male participants represented 34.6% of the study. Health science students currently studying in Saudi Arabia represented the majority of participants with a percentage of 58.5%. Among the four countries, students in Saudi Arabia presented with the highest knowledge mean score. Students in Spain had the highest mean attitude score. Muslim students had the highest mean fatalism scores followed by Christian students. Conclusion In general, a high level of knowledge was observed among the participants, most notably, among Saudis who presented with the highest level of knowledge across the four countries. Regarding attitude, Spanish students presented the best attitude towards patients with epilepsy. Low fatalism scores were commonly observed across all countries regardless of their different demographic characteristics. Fatalism perception should be further detailed to ensure optimal services are delivered without prejudgment by future healthcare workers., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Alyazidi et al.)