Clinical Characteristics and Outcomes of Limb Fractures in Saudi Children.

BACKGROUND:  Children's bones are at high risk of fracture as they grow. The clinical characteristics of fractures in children differ from those in adults. Studying fractures in healthy children is critical for identifying cases of fragility fractures. The aim of this study was to assess the clinical characteristics of limb fractures as well as clinical indicators of fracture healing outcomes in healthy Saudi children seen in an emergency room. METHODS: A retrospective review of the treatment course of all pediatric fractures and related factors treated at King Abdullah Specialist Children's Hospital (KASCH) in Riyadh between 2016 and 2018 was conducted. Children with a primary bone disorder or chronic comorbidities known to affect bone health were excluded. RESULTS:  The study included 143 patients (mean age ± SD = 8.23 + 3.76 years), and 71% (n = 102) were males. Motor vehicle accidents (MVAs) were the most common mechanism of injury, accounting for 50 (35%) cases, followed by fall injuries, sports injuries, and pedestrian accidents at 45 (31.4%), 16 (11.2%), and 13 (9.1%), respectively. A total of 178 fractures were reported, with the femur (n = 75, 42.1%) being the most common of the reported fracture sites, followed by the forearm (n = 44, 24.7%). The most common type of fracture was transverse fracture (n = 96, 54% of patients). Vitamin D levels were measured in 53/143 cases. Of these, vitamin D deficiency was found in 38 (71.7%) patients. The average time for fracture healing was 32.9 ± 30.2 weeks. The mechanisms of injury, including MVAs and sports injuries, as well as femur and forearm fractures, were clinical factors that were independently associated with a longer duration of fracture healing time (p < 0.001), but age, gender, and vitamin D status were not associated with that outcome. CONCLUSION:  MVAs and fall injuries were the most common causes of fracture in our patients. MVAs and sports injuries were associated with prolonged healing time. Large prospective, multicenter, or field studies may be required to further explore clinical characteristics, outcomes, and environmental factors.

Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.

The diagnosis and management of metabolic bone disease among children can be challenging. This difficulty could be due to many factors, including limited awareness of these rare conditions, the complex pathophysiology of calcium and phosphate homeostasis, the overlapping phenotype with more common disorders (such as rickets), and the lack of specific treatments for these rare disorders. As a result, affected individuals could experience delayed diagnosis or misdiagnosis, leading to improper management. In this review, we describe the challenges facing diagnostic and therapeutic approaches to two metabolic bone disorders (MBD) among children: hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH). We focus on explaining the pathophysiological processes that conceptually underpin novel therapeutic approaches, as well as these conditions' clinical or radiological similarity to nutritional rickets. Particularly in areas with limited sun exposure and among patients not supplementing vitamin D, nutritional rickets are still more common than HPP and XLH, and pediatricians and primary physicians frequently encounter this disorder in their practices. More recently, our understanding of these disorders has significantly improved, leading to the development of novel therapies. Asfotas alfa, a recombinant, human-tissue, nonspecific alkaline phosphatase, improved the survival of patients with HPP. Burosumab, a human monoclonal anti-FGF23 antibody, was recently approved as a specific therapy for XLH. We also highlight the current evidence on these two specific therapies' safety and effectiveness, though long-term data are still needed. Both HPP and XLH are multisystemic disorders that should be managed by multidisciplinary teams. Finally, recognizing these conditions in early stages will enable affected children and young adults to benefit from newly introduced, specific therapies.

Prevalence and factors associated with dyslipidemia among adolescents in Saudi Arabia.

Dyslipidemia is a major risk factor for atherosclerosis. Screening for dyslipidemia at an early age is essential to prevent and control its consequences. This study aimed to determine prevalence of dyslipidemia and its correlates among adolescents in Saudi Arabia. Data of 5854 adolescents aged 10-19 years from all 13 regions of Saudi Arabia were obtained from the Jeeluna study; a national cross-sectional, multistage stratified cluster sample survey. Dyslipidemia was defined based on the National Heart Lung and Blood Institute and National Cholesterol Education Program guidelines for adolescents. We found that a quarter of Saudi adolescents have dyslipidemia (males: 33.3%, females: 17.9%). Significant variation was observed by region (p < 0.001). Prevalence of abnormal Total Cholesterol was 6.7%, LDL-C 7.1%, HDL-C 12.8%, Non-HDL-C 8.3%, and Triglycerides 9.6%. Factors independently associated with dyslipidemia were male gender (OR = 2.19, 95% CI 1.78-2.70, p < 0.001), BMI (underweight OR = 0.80, 95% CI 0.69-0.94, overweight OR = 1.76, 95% CI 1.50-2.06, obese OR = 2.80, 95% CI 2.34-3.34, p < 0.001, vs. normal) and serum ferritin (high OR = 7.02, 95% CI 1.49-34.79, low OR = 0.82, 95% CI 0.67-1.01, p = 0.04 vs. normal) and ≥ 1 daily intake of carbonated beverage (OR = 1.10, 95% CI 1.00-1.20, p = 0.03 vs. no or not daily intake). Public health interventions for improving lipid profile of adolescents are urgently needed.

An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia.

Because of their rarity, diseases characterized by chronic hypophosphatemia can be underrecognized and suboptimally managed, resulting in poor clinical outcomes. Moreover, serum phosphate may not be measured routinely in primary care practice. Authors participated in several working sessions to advance the understanding of phosphate homeostasis and the causes, consequences, and clinical implications of chronic hypophosphatemia. Phosphate levels are regulated from birth to adulthood. Dysregulation of phosphate homeostasis can result in hypophosphatemia, which becomes chronic if phosphate levels cannot be normalized. Chronic hypophosphatemia may be underrecognized as serum phosphate measurement is not always part of routine analysis in the primary care setting and results might be misinterpreted, for instance, due to age-specific differences not being accounted for and circadian variations. Clinical consequences of chronic hypophosphatemia involve disordered endocrine regulation, affect multiple organ systems, and vary depending on patient age and the underlying disorder. Signs and symptoms of chronic hypophosphatemic diseases that manifest during childhood or adolescence persist into adulthood if the disease is inadequately managed, resulting in an accumulation of clinical deficits and a progressive, debilitating impact on quality of life. Early identification and diagnosis of patients with chronic hypophosphatemia is crucial, and clinical management should be started as soon as possible to maximize the likelihood of improving health outcomes. Furthermore, in the absence of a universally accepted description for "chronic hypophosphatemia," a definition is proposed here that aims to raise awareness of these diseases, facilitate diagnosis, and guide optimal phosphate management strategies by improving monitoring and assessment of patient response to treatment. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).

Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development.

OBJECTIVE: Being born small for gestational age (SGA) is frequently associated with unexplained disorders of sex development (nonspecific DSD) in boys. Little is known about their future growth, puberty and testicular function. Our objective is to determine the long-term endocrine outcome of boys born SGA who have a nonspecific DSD. DESIGN: Boys with a nonspecific DSD born SGA and appropriate for GA (AGA) were retrieved through the International Disorders of Sex Development registry and retrospective data collected, based on a spreadsheet containing 102 items. PATIENTS AND MEASUREMENTS: In total, 179 boys were included, of which 115 were born SGA and 64 were born AGA. Their growth and pubertal development were compared. Serum LH, FSH, testosterone, AMH and inhibin B levels in infancy and puberty were analysed to assess testicular function. RESULTS: At 2 years of age, 30% of SGA boys had incomplete or absent catch-up growth. Boys born SGA also had higher LH during minipuberty and lower testosterone in stimulation tests (p = 0.037 and 0.040, respectively), as compared to boys born AGA. No differences were observed in timing or course of puberty or end-pubertal hormone levels. CONCLUSIONS: Almost one out of three SGA boys with a nonspecific DSD experiences insufficient catch-up growth. In addition, our data suggest dysfunction of infantile Leydig cells or altered regulation of the hypothalamic-pituitary-gonadal axis in SGA boys during childhood. Sex steroid production during puberty seems unaffected.

The Impact of COVID-19 Pandemic Lockdown on the Incidence of New-Onset Type 1 Diabetes and Ketoacidosis Among Saudi Children.

Background: Overburdened healthcare systems during the coronavirus disease (COVID-19) pandemic led to suboptimal chronic disease management, including that of pediatric type 1 diabetes mellitus (T1DM). The pandemic also caused delayed detection of new-onset diabetes in children; this increased the risk and severity of diabetic ketoacidosis (DKA). We therefore investigated the frequency of new-onset pediatric T1DM and DKA in Saudi Arabia during the COVID-19 pandemic and compared it to the same period in 2019. Methods: We conducted a multicenter retrospective cohort study, including patients aged 1-14 years admitted with new-onset T1DM or DKA during the COVID-19 pandemic (March-June 2020) and the same period in 2019. We assessed factors including age, sex, anthropometric measures, nationality, duration of diabetes, diabetes management, HbA1c levels, glycemic control, cause of admission, blood gas levels, etiology of DKA, DKA complications, length of hospital stay, and COVID-19 test status. Result: During the lockdown, 106 children, compared with 154 in 2019, were admitted to 6 pediatric diabetes centers. Among the admissions, DKA was higher in 2020 than in 2019 (83% vs. 73%; P=0.05; risk ratio=1.15; 95% confidence interval, 1.04-1.26), after adjusting for age and sex. DKA frequency among new-onset T1DM and HbA1c levels at diagnosis were higher in 2020 than in 2019 (26% vs. 13.4% [P=<0.001] and 12.1 ± 0.2 vs. 10.8 ± 0.25 [P<0.001], respectively). Females and older patients had a higher risk of DKA. Conclusion: The lockdown implemented in Saudi Arabia has significantly impacted children with T1DM and led to an increased DKA frequency, including children with new-onset T1DM, potentially owing to delayed presentation.