Reliability of Agreement between Insulin, Clonidine, and Glucagon Stimulation Tests for the Diagnosis of Growth Hormone Deficiency in Children: A Retrospective Cohort Study.

Growth hormone (GH) deficiency (GHD) is a rare disorder. The diagnosis of GHD requires a combination of two provocative GH tests. This study aimed to find agreement between commonly used medications to determine which combined tests have high reliability of agreement. This retrospective cohort included 201 children who underwent GH provocation testing from January 2012 to December 2022. The insulin tolerance test (ITT) with the clonidine stimulation test (CST) or glucagon stimulation test (GST) with the CST were performed. We calculated Cohen's kappa to determine the agreement between the test medications by considering the post-stimulation peak GH level with a cut-off value of 10 ng/mL as the primary outcome. A total of 151 patients underwent the two provocative tests and were included in the analysis. Of these patients, 119 underwent the ITT and CST and 54 (45.3%) were diagnosed with GHD. However, 32 patients underwent the GST and CST and 18 (56.2%) were diagnosed with GHD. The kappa value for ITT and CST was 0.258 (25.8%), indicating fair agreement between clonidine and insulin (p = 0.005). However, the kappa value for CST and GST was 0.178 (17.8%), representing slight agreement. The correlation coefficient revealed a very strong relationship between ITT and CST. Clonidine has fair agreement and a very strong correlation coefficient with ITT when used to diagnose GHD in children. Among the commonly used pharmacological tests for GH provocation in our unit, the CST was considered the best pharmacological test in terms of safety and reduced parental anxiety.

A Clinical and Biochemical Comparative Study Of Diabetic Ketoacidosis (DKA) in Newly Diagnosed Vs Known Cases of Type 1 Diabetic Children.

Objectives: We aimed to study the characterizing clinical and biochemical profiles of Diabetic Ketoacidosis (DKA) in children with newly diagnosed Type 1 Diabetes Mellitus (Type 1DM) compared to children with established diagnosis of Type 1DM presenting with DKA admitted to the pediatric intensive care unit of a large university hospital in the eastern region of Saudi Arabia. Methods: We retrospectively reviewed the medical records of 211 patients who were admitted to the pediatric intensive care unit with diabetic ketoacidosis between 2010 and 2019. The diagnosis of diabetic ketoacidosis was based on symptoms of polydipsia, polyurea, weight loss, vomiting, dehydration, abdominal pain, breathing problems, lethargy or coma, biochemical hyperglycemia (blood glucose level of >200 mg/dL), venous pH of <7.3, serum bicarbonate level of ≤15 mEq/L, and ketonemia (blood ß -hydroxybutyrate concentration of ≥3 mM) or moderate or severe ketonuria (diagnosed as newly acquired type 1 diabetes). Results: The rate of newly diagnosed Type 1 DM with DKA was 41.7%, out of them who got severe and moderate diabetic ketoacidosis were 61.6% and 38.4%, respectively. We observed significantly increased heart and respiratory rates in patients newly diagnosed with diabetic ketoacidosis and in those with severe diabetic ketoacidosis (p<0.001) compared to known cases with Type 1DM presenting with DKA. We also identified significantly increased biochemical indices including HbA1c, random blood sugar, serum osmolality, blood urea nitrogen, creatinine, chloride, lactate, and anion gap in relation to severe diabetic ketoacidosis and newly diagnosed type 1 diabetes (p ≤ 0.05). Conclusions: We found that the clinical and biochemical profiles of patients with newly diagnosed Type 1 DM children were significantly affected compared to children who were known Type 1DM presenting with DKA.

Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.

Background: Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia). Objective: The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism. Case report: We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established. Conclusion: Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism.

Thyroid Disorders Spectrum in Pediatric Endocrine Clinic; Seven-Year Experience of a Teaching Hospital in Saudi Arabia.

Thyroid disorders constitute one of the major endocrine disorders in pediatric service. It includes a range of congenital versus acquired anatomic and/or functional thyroid diseases in growing children that has a spectrum of severity from severe intellectual disability effect to subclinical mild pathologies. This study was designed to analyze the demographic characteristics, clinical pattern, and severity of thyroid disorders in the pediatric endocrine clinic patients at the teaching hospital of the university over a 7-year duration. A total number of 148 patients with thyroid disorders were seen in pediatric Endocrine clinic during the time between January 2015 and December 2021. Female patients constitute 64% of them. Acquired Hypothyroidism was the commonest disorder; 34% of the cases followed by the congenital hypothyroidism (CH), then Hashimoto's thyroiditis, and 5.8% for others. While a very small percentage was acquired hyperthyroidism. The majority of referrals were from dermatology and other service for the screening of thyroid disease as association with other autoimmune diseases with percentage of 28.3%. Next was neck swelling manifestation in 22.6%. Thyroid disorders in children, both congenital and acquired, constitute an important medical issue for pediatricians to be aware of its variable presentations, and its potential serious health consequences on the affected children if not diagnosed and treated earlier. Acquired hypothyroidism constitutes more percentage of the thyroid disorders followed in the pediatric endocrinology outpatient clinics. Congenital hypothyroidism is the second most common thyroid disorder in the outpatient unit, having the most potential complications. These results support the international studies with the female predominance in most of thyroid disorders.

Acute chest syndrome in pediatric sickle cell disease: A 19-year tertiary center experience.

INTRODUCTION: The most common cause of death among sickle cell disease (SCD) patients is acute chest syndrome (ACS). Since SCD is a common condition in the Eastern province of the Kingdom of Saudi Arabia (KSA), we aimed to provide a detailed description of the clinical characteristics and ACS management. METHODS: We retrospectively studied pediatric (<14 years) patients with SCD diagnosis who were admitted with ACS or developed ACS after admission from January 2002 to December 2020. The absence of chest X-ray or hemoglobin electrophoresis was the reason to exclude patients from the study. The primary objective of the study was to evaluate and report the clinical, laboratory, and management characteristics of ACS. RESULTS: Ninety-one ACS episodes (42 patients) were included, with a mean diagnosis age of 7.18 ± 3.38 years. Twenty-two (52.4%) patients were male. Twenty-five patients had recurrent ACS episodes. The median absolute number of ACS was 3.5 (interquartile range [IQR], 2-9), with maximum ACS episodes of 13/1 year and a minimum of 1 ACS episode per year. At the first ACS episode, the mean age was 6.62 ± 3.38 years, while the overall mean age at ACS episode diagnosis was 7.18 ± 3.38 years. The most common antecedent events were vaso-occlusive crisis (12 episodes, 13.2%) and upper respiratory tract infections (8 episodes, 8.8%). The most frequently encountered presenting symptoms were fever (70.3%) and cough (70.3%). The most common antibiotics used were azithromycin (82.4%) and ceftriaxone (75.8%). Nine patients (9.9%) required pediatric intensive care unit (PICU) admission. Of the 91 ACS episodes, there was no in-hospital mortality. The median hospital and PICU length of stay were 8 days (IQR, 5-10.25) and 4 days (IQR, 3-5.5), respectively. CONCLUSION: This study has reported the most common clinical characteristics and management of ACS among pediatric SCD patients in the Eastern province of KSA.

Characteristics of Pediatric Primary Healthcare Visits in a University-Based Primary Healthcare Center in Saudi Arabia.

This study aimed to identify the characteristics of pediatric primary health care (PHC) visits and evaluate the outcomes of patients presenting with complaints along with their referral and consultation capabilities. This was a retrospective medical record-based study. The study population included any pediatric patient (≤14 years old), including females and males, Saudis, and non-Saudis. Research data were gathered for visits from 2016-2021. Sampling was performed using a stratified random sample based on age groups, followed by simple random sampling with proportional allocation to different age groups. The number of pediatric visits included was 1439 (males, 52.2%). The most common age group was toddlers, and 60% of the total sample was from Saudi Arabia. The most common cause of visits was vaccination (32%), followed by general checkups and/or a well-baby visit (25.4%), and fever (11.2%). Approximately 10% of visits needed referral to other subspecialties. Approximately 50% of visits with complaints concerning ophthalmology, cardiology, and surgical intervention were referred to a specialized department. More awareness needs to be raised about the important role of PHC services in the pediatric age group, as it was capable of handling approximately 90% of their cases.

Diabetic Ketoacidosis and its Severity Predictors in Type 1 Diabetic Children; A 10-year Experience of A Teaching Hospital in Saudi Arabia.

OBJECTIVE: Our objective was to determine the trend and precipitating factors of the severity of diabetic ketoacidosis (DKA) in the population admitted to the Pediatric Intensive Care Unit (PICU) in a large teaching hospital in the Eastern region of Saudi Arabia. METHODS: We conducted a retrospective, analytical study at King Fahad Hospital, Imam Abdulrahman Bin Faisal University, Alkhobar, Saudi Arabia. We retrieved the complete medical records of 2234 children who were admitted to the PICU during the 10-year period of 2010 through 2019. The children included those with polydipsia, polyurea, abdominal pain, vomiting, dehydration, and weight loss, as well as breathing disturbances due to acidosis and CNS issues such as lethargy or coma and elevated blood glucose level, > 200 mg/dL [> 11.1 mmol/L], venous pH 7.3, serum total CO2 15 mmol/L, and blood- hydroxybutyrate concentration 3 mmol/L or moderate or severe ketonuria. RESULTS: Out of 2234 PICU admissions, 211 (9.4%) were diagnosed with DKA. A persistent increase in the rate of DKA ended up at 14.1% in 2019 (p = .005). The incidence of DKA was 88/2234 (3.93%). The severity of DKA was as follows: 130 (61.6%) had severe and 81 (38.4%) had moderate DKA. Excessive sweet intake without adding insulin in 83 (39.3%) patients and unhealthy lifestyles (35.1%) were the best predictors of severe DKA (p = .001). CONCLUSION: Over a 10-year period, the DKA pattern was persistently rising and slightly falling, which ended up at the significantly highest rate of 14.1% in 2019. URTI, pneumonia, unhealthy lifestyle, and excess sweet intake were significant precipitating factors associated with severe DKA.

The Impact of COVID-19 Lockdown on the Incidence of Type 1 DM and the Glycemic Control of Diabetic Children: Findings from a Teaching Hospital, Saudi Arabia.

OBJECTIVE: We evaluated glycemic control among T1DM pediatric patients attending the endocrinology pediatrics clinics at King Fahd Hospital of the University (KFHU) prior to and during COVID-19 restraining regulations. In addition, we assessed the trends and variations in the incidence of T1DM during 2017-2021, including the COVID-19 years by identifying newly diagnosed patients presenting to pediatrics emergency department (ED) in KFHU. METHODS: To estimate the effect of COVID-19 on the incidence of T1DM, we identified newly diagnosed cases of T1DM among pediatric patients attending the ED during the years 2017- 2021. The participants' data were collected through electronic medical records. Information collected included patient age, sex, and HbA1c readings. Three HbA1c readings of interest that were defined and collected are pre-COVID reading, in-COVID reading, and post-COVID reading. RESULTS: The difference of female participants' readings was statistically non-significant (Z= -0.416, p = 0.678), with a pre- and post-COVID median of 10.70 (Q1= 9.00, Q3= 12.15), and 10.50 (Q1= 8.80, Q3= 12.35), respectively. In contrast, the difference was statistically significant among male participants (Z= -2.334, p = 0.02), with a pre- and post-COVID median of 10.20 (Q1= 8.70, Q3= 11.80), and 10.65 (Q1= 9.00, Q3= 12.70), respectively. There was a statistically significant increase in HbA1c of persons > 11 years old (Z= -2.471, p= 0.013), with a pre- and post-COVID median of 10.40 (Q1= 9.00, Q3= 12.10), and 10.90 (Q1= 9.00, Q3= 12.60), respectively. Conversely, persons ≤ 11 years old showed no statistically significant change in HbA1c (Z= -.457, p= 0.648), with a pre- and post-COVID median of 10.45 (Q1= 8.70, Q3= 11.85), and 10.20 (Q1= 8.40, Q3= 12.075), respectively. Disregarding any influence of time, the effect of sex showed no statistically significant difference in HbA1c between males and females [F (1,125) = 0.008, p = 0.930]. Meanwhile, the age effect on HbA1c, regardless of time influence, was statistically significant [F (1,125) = 4.993, p = 0.027]. There was no statistically significant interaction between time and sex on HbA1c levels [F (1.74, 217) = 0.096, p = 0.883] and between age and time [F (3.92,289.57) = 1.693, p = 0.190]. CONCLUSIONS: The number of visits to healthcare facilities dropped significantly during the COVID-19 pandemic, but the rate of newly diagnosed T1DM increased. There was a variable effect on HbA1c levels of those patients, which suggests that each demographic group in the population might have been affected differently by the pandemic. Future research should determine factors associated with better glycemic control and measures to sustain these changes the pandemic might have created.

Child Abuse and Neglect Awareness among Medical Students.

Physical, emotional, and sexual abuse and various forms of neglect of children have been encountered more frequently by healthcare providers, particularly physicians. However, mismanagement of child abuse and neglect (CAN) due to a lack of awareness of it can lead to substantial and serious consequences. This study primarily aimed to evaluate the awareness of CAN among medical students and compare it between preclinical and clinical males and females in Imam Abdulrahman Bin Faisal University in Dammam, Saudi Arabia. A cross-sectional study using a self-reported-based questionnaire was carried out to study child abuse and neglect awareness and compare preclinical and clinical male versus female medical students during the first semester in 2021/2022. The majority of the participants were aware of CAN (90.6%), agreed that CAN exists locally (96.6%), believed that CAN is important in the medical field (96.3%), and expressed the important role of physicians in participating in the management of CAN (84.3%). Some students did not know about the legislation of CAN in Saudi Arabia (15%). The results show a lack of exposure to real CAN cases (80.3%) and the need for more formal education (70.3%). In general, the students were comparable, but there were significant differences showing more awareness in female students compared to males and, similarly, more awareness in clinical-year students. Both clinical and preclinical medical students were aware of CAN, with some concerns regarding their competency in dealing with CAN. CAN should be given more weight in the medical school curriculum.

Predictors of Recurrent Acute Chest Syndrome in Pediatric Sickle Cell Disease: A Retrospective Case-Control Study.

Acute chest syndrome (ACS) is a common cause of death in sickle cell disease (SCD) patients. Multiple studies investigated the risk factors of developing ACS; however, predictors of recurrent ACS episodes have not been thoroughly investigated. We aim to examine the clinical and laboratory predictors of recurrent ACS in pediatric patients with SCD. A retrospective case-control study included pediatric patients with SCD (˂14 years) admitted with ACS or developed ACS during admission for another indication. Patients were classified into recurrent ACS episodes (≥2 episodes) and a single ACS episode groups. Ninety-one ACS episodes (42 patients) were included, with a mean age at diagnosis of 7.18 ± 3.38 years. Twenty-two (52.4%) patients were male, and twenty-five (59.5%) patients had recurrent ACS. Younger age at first ACS was significantly associated with recurrence (p = 0.003), with an optimal cutoff at 7.5 years (area under the receiver operating characteristic curve [AUROC] = 0.833; p < 0.001). Higher SCD-related hospitalizations were significantly associated with recurrence (p = 0.038). Higher mean values of baseline white blood count (WBC) (p = 0.009), mean corpuscular volume (MCV) (p = 0.011), and reticulocyte (p = 0.036) were significantly associated with recurrence. Contrarily, lower baseline hematocrit values (p = 0.016) were significantly associated with recurrence. The ACS frequencies were significantly lower after hydroxyurea (p = 0.021). The odds of ACS recurrence increased with a positive C-reactive protein (CRP) at admission (p = 0.006). In conclusion, several baseline and admission laboratory data showed significant associations with recurrence. Hydroxyurea therapy demonstrated reduced ACS episodes.

Myocarditis in Children: Impact of Early Presentation on Disease Outcomes at a Single Tertiary Center in Saudi Arabia.

Purpose: Myocarditis is the inflammation of the heart muscle and can be caused by a variety of infections, incendiary diseases, and pollutants. It is challenging for an emergency pediatrician to have a sufficiently high degree of suspicion for myocarditis to avoid diagnostic delay given the broad overlap of myocarditis symptoms with other disease processes. The study aimed to evaluate the impact of early presentation and diagnosis on the outcomes of acute myocarditis in children. Patients and Methods: We performed a retrospective analysis of the complete records of 80 pediatric patients diagnosed with acute myocarditis between 2015 and 2019 at a single tertiary center in Saudi Arabia. Patients were two weeks to 14 years of age and were admitted to the pediatric intensive care unit (PICU) for various sequelae of myocarditis. Data from routine clinical and laboratory investigations were collected. Results: The incidence of delayed presentation at the hospital after the onset of symptoms of myocarditis was 42.5%. A total of 22 (27.5%) patients expired during their hospital stay. There was marginally significant association of earlier presentation with in-hospital survival (80.4% vs 61.8%) and delayed presentation with higher proportion of in-hospital mortality (38.2% vs 19.6%, p=0.064). The rate of mechanical ventilator was also marginally significant in delayed presentation (p=0.068). Shock and multisystem organ failure were the significantly associated manifestations of delayed acute myocarditis presentations. Length of stay in PICU was also significant in delayed presentation group. The impact of presenting symptoms, ECG findings, and use of mechanical ventilator was not significantly associated with delayed presentation. Conclusion: An earlier presentation may have a substantial impact on overall prognosis and length of PICU stay and may lead to comparatively lesser frequency of mechanical ventilation use.

Clinical profile, risk factors and outcomes of ric COVID-19: a retrospective cohort multicentre study in Saudi Arabia.

OBJECTIVE: To describe the risk factors, clinical profile and outcomes of COVID-19 in the paediatric population. DESIGN: Multicentre, retrospective observational study. SETTING: Four tertiary hospitals in Saudi Arabia. PATIENTS: We recruited 390 paediatric patients aged 0-18 years who presented from March to December 2020 and tested positive for COVID-19 on PCR. MAIN OUTCOME MEASURES: We retrospectively analysed medical records for sociodemographics, health indicators, clinical presentations, laboratory findings, clinical complications, and outcomes. RESULTS: The mean participant age was 5.66±4.90 years, and the mean hospital stay was 2.17±3.48 days. Forty patients, mostly school-aged children (16, 40.00%; p=0.005) and children with comorbidities (25, 62.50%; p<0.001), received more than just supportive care. Complications were seen in 15 (3.9%) patients, bacterial infection being the most common (6, 40.00%). Patients presented with dyspnoea (OR 6.89; 95% CI 2.89 to 20.72), abnormal chest radiographs (OR 6.11; 95% CI 1.26 to 29.38), lethargy (OR 9.04; 95% CI 2.91 to 28.06) and elevated ferritin (OR 14.21; 95% CI 4.18 to 48.37) and D-dimer (OR 48.40; 95% CI 14.32 to 163.62), with higher odds of developing complications. The odds of paediatric intensive care unit (ICU) admission were higher for patients with dyspnoea (adjusted OR 4.66; 95% CI 1.24 to 17.50) and elevated white blood cell count (adjusted OR 3.54; 95% CI 1.02 to 12.30). CONCLUSIONS: COVID-19 complications were limited among our patients. However, dyspnoea, abnormal chest radiographs, lethargy and elevated ferritin and D-dimer were associated with an increased risk of complications. Dyspnoea, leucocytosis, comorbidities and abnormal chest radiographs at presentation increased the risk of ICU admission.

Innovative Method to Digitize a Web-Based OSCE Evaluation System for Medical Students: A Cross-Sectional Study in University Hospital in Saudi Arabia.

PURPOSE: The Objective Structured Clinical Examination (OSCE) is a standard academic assessment tool in the field of medical education. This study presents an innovative method for digitizing OSCE evaluation system for medical students and explores its efficacy compared to the traditional paper-based system, through the analysis of a User Satisfaction Survey. METHODS: A cross-sectional, questionnaire-based study involving a User Satisfaction Survey to evaluate assessors' attitudes toward and acceptance of the Computerized Web-based OSCE Evaluation System (COES) was used. Fifth-year medical students at a College of Medicine were assessed clinically through their 2019 end-of-year OSCE examination by 30 examiners in five different OSCE stations. The traditional paper-based stations were converted into an online electronic version using QuestionPro software. Answers were filled in using smart tablets (iPads). QR codes were used for students' identification at each station to fully digitize the process and save time. After the completion of the exam, a User Satisfaction Survey was sent electronically to all examiners to evaluate their experiences with the new system. RESULTS: The response rate for the survey was 100% with an internal consistency of 0.83. Almost all the examiners (29, 97%) were satisfied with the application of the COES. Further, 72% of the examiners indicated that the electronic system facilitated the evaluation of the students' skills, and 84% found using a smart device (iPad) was easier than using a paper form. All examiners expressed their preference for using the electronic system in the future. CONCLUSION: Users were satisfied with the utilization of the customized COES. This concept of fully digitizing the OSCE assessment process shortened the time needed for both the analysis of results and providing students with feedback. Further observational studies are needed to assess examiners' behaviors when using this methodology.

Congenital Hypothyroidism.

Congenital hypothyroidism (CH) is the commonest preventable cause of mental retardation in human species. It is so important for clinician to know its etiology epidemiology, clinical manifestation and treatment strategies. Since it is one of the rare serious diseases that should not be diagnosed clinically because late clinical features corresponds to advanced mental retardation, the neonatal screening detection is the best and preferable way of early diagnosis of this congenital disease. Confirmatory laboratory and radiological diagnostic tests should be performed immediately after the positive neonatal screening test. In order to prevent mental defects and to maintain long term clinical as well as biochemical euthyroidism in affected children its diagnosis approach, medical treatment and follow-up should be well established knowledge to all pediatricians during the childhood period and later on to general practitioners when these individuals grow up as adults. Congenital hypothyroidism is a potentially serious disease that we need to emphasize on early detection, using proper diagnostic tools and early and planned therapeutic approach.

LIMITED JOINT MOBILITY IN A CHILD WITH TYPE 1 DIABETES MELLITUS.

Chronic uncontrolled type 1 diabetes mellitus (type 1DM) is a very major risk for chronic systemic complications; specifically, the microvascular and macrovascular ones. Limited joint mobility (LJM) is a rare disease that complicates all types of diabetes and might indicate the high-risk odd for the diabetic patients to develop microvascular complications. We are reporting a 13-year-old female child with chronic uncontrolled type 1DM presenting with full blown clinical picture of bilateral hand LJM associated with significant growth failure yet has no clinical or biochemical evidence of microvascular complications. Literature research studies have emphasized the rarity of this manifestation in pediatric type 1 diabetic patients; however, it is an important clue and warning sign for microvascular complication occurrence in these patients.

Characteristics of visits and predictors of admission from a paediatric emergency room in Saudi Arabia.

BACKGROUND: The Emergency Repartment (ER) is one of the most used areas in healthcare institutions. Problems with over utilisation and overcrowding have been reported worldwide. This study aims at examining the characteristics of paediatric ER visits, the rate of hospital admissions and its associated predictors at King Fahd Hospital of the University in the Eastern Province of Saudi Arabia. METHODS: This is a retrospective, medical record-based study. Variables included gender, age group, nationality, complaints, Triage level, shifts and seasons. Descriptive statistics were reported as frequencies/percentages. P-values were obtained through a Chi-Squared test while unadjusted and adjusted odds ratios were estimated by binary logistic regression, where admission was considered as the outcome. RESULTS: The total number of paediatric patients included was 46,374, and only 2.5% were admitted. Males comprised 55.4% while females comprised 44.6%. The most common age group were toddlers, and 92.4% of the total sample were Saudis. The most common complaint was fever (26.9%) followed by respiratory symptoms (24.9%). Only 7 patients (0.02%) were classified as triage I (Resuscitation), and most were triage IV (Less urgent) (71.0%). Most visits occurred during the winter months. Adjusted ORs showed that neonates had higher odds of admission (OR = 3.85, 95%CI = 2.57-5.76). Moreover, those presenting with haematological conditions showed an OR of 65.49 (95%CI = 47.85-89.64), followed by endocrine conditions showing an OR of 34.89 (95%CI = 23.65-51.47). Triage I had a very high odds of admission (OR = 19.02, 95%CI = 2.70-133.76), whereas triage V was associated with a very low odds of admission (OR = 0.30, 95%CI = 0.23-0.38). CONCLUSIONS: A low rate of hospital admission was found in comparison with other rates worldwide. This was mostly attributed to an alarmingly high number of non-urgent ER visits. This further emphasises the problem with improper use of ER services, as these cases should be more appropriately directed towards primary healthcare centres. Further studies to examine the impact of prioritising patients in the ER based on the identified predictors of hospital admission, in addition to the standard triage system, are suggested.

Effects of 12 weeks of recreational football (soccer) with caloric control on glycemia and cardiovascular health of adolescent boys with type 1 diabetes.

OBJECTIVE: To determine the effects of recreational football combined with caloric control on glycemia and cardiovascular health of adolescent boys with type 1 diabetes. BACKGROUND: Though 12 weeks of physical activity alone improves the health of people with type 1 diabetes, there is little evidence that physical activity alone can improve glycemia in 12 weeks. RESEARCH DESIGN AND METHODS: The participants were divided into four groups as follows: football with diet, football-only, diet-only, and the control groups. Each group consisted of 10 participants. The football with diet and the football-only groups had 1.5 h of football twice a week for 12 weeks. The following outcomes were measured before and after 12 weeks: Glycated hemoglobin, fasting blood glucose, total cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides, and resting blood pressures. Changes were considered significant when p ≤ 0.050 and common language effect size ≤42% or common language effect size ≥58%. RESULTS: Glycated hemoglobin decreased in the football with diet group (mean change (standard deviation) = -0.9 (1.0) %, p = 0.019, and common language effect size = 31.5%) and was different from the control group (p = 2.4 × 10-4 and common language effect size = 95.5%.). However, none of the intervention groups showed a clear change in blood lipids nor blood pressure. CONCLUSIONS: 12 weeks of combined football with diet intervention provides the greatest improvement in glycemia in adolescent boys with type 1 diabetes.

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family.

The nonlysosomal glucosylceramidase ß2 (GBA2) gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia, autosomal recessive cerebellar ataxia with spasticity, and Marinescu-Sjögren-Like Syndrome. In this study, we report the clinical features and genetic diagnosis of autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family. We included a large consanguineous Saudi family with a presumptive clinical diagnosis of ataxia at King Abdulaziz Medical City in Jeddah, Saudi Arabia. The family included six affected individuals and four unaffected in addition to the parents. Whole exome sequencing (WES) was performed for the proband IV-5, and Sanger sequencing was used to confirm the variant in other family members. Segregation study was performed using DNA from the parents and siblings of the proband. Sequence analysis identified a homozygous variant c.2618G>A, p.(Arg873His) in GBA2 gene. The homozygous variant was identified in affected members of the family while the parents and the other four siblings were heterozygous carriers of the variant. One sibling was not available for genetic testing. The variant identified in our patients is classified as pathogenic considering the current evidence of the variant. Autosomal recessive cerebellar ataxia with spasticity is an extremely rare genetic disorder with very few cases reported in the literature. We conclude that the c.2617G>A mutation in GBA2 gene causes the loss of function with abolishment of the enzymatic activity that causes the disease. This report adds further evidence to support the pathogenicity of this variant. The patients had the classical clinical phenotype of cerebellar ataxia and spasticity consistent with previous reports in the literature.

A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.

Ataxia telangiectasia is a hereditary multisystem disorder with a wide range of symptoms and signs. It is inherited in an autosomal recessive manner due to a mutation in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase with a domain related to a phosphatidylinositol 3-kinase (PI-3 kinase) proteins that respond to DNA damage by phosphorylating key substrates involved in DNA repair and/or cell cycle control. The characteristics of the disease include progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctiva, immunodeficiency with frequent infections, and an increased risk for malignancy. In this article, we report a novel homozygous missense variant c.1516G > T, p.(Gly506Cys) in the ATM gene causing ataxia telangiectasia in a Saudi female. This variant led to the development of a later onset disease (at the age of 14 years) and the classical neurodegenerative process both clinically and on imaging. However, no immune system dysfunction or endocrine abnormalities were present. This is the second novel mutation in this gene so far reported from Saudi Arabia. The novel mutation described in the present study widened the genetic spectrum of ATM-associated diseases, which will benefit studies addressing this disease in the future.