Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study

IntroductionFamilial chylomicronemia syndrome (FCS) is a severe type of hypertriglyceridemia (HTG). Despite its rarity, we have encountered more than 100 patients with FCS at our center. Therefore, we aimed to provide a useful resource for clinicians who may encounter such patients and help the scientific community accumulate knowledge to manage this disease.MethodsThis retrospective study described the clinical characteristics and management of FCS patients at (King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia).ResultsIn total, 29 pediatric patients were included, with a median age of 2.2 months [IQR: 1.3, 12]. Males predominated (62.0%). Key symptoms included a milky blood sample (72.4%), a family history of HTG (65.5%), hepatosplenomegaly (44.8%), acute pancreatitis (31.0%), and eruptive xanthoma (13.8%). Gemfibrozil (22 patients) reduced TG from 47.6 ± 55.7 to 9.4 ± 7.5 mmol/L (mean reduction 38.2 ± 54.5 mmol/L, P<0.001). Fenofibrate (19 patients) lowered TG from 45.4 ± 56.4 to 18.4 ± 13.1 mmol/L (mean difference 27.1 ± 52.0 mmol/L, P=0.001). While the Niacin-aspirin (4 patients) and diet alone (4 patients) had no significant effect (P=1.000) and (P=0.125), respectively.DiscussionThe rarity of FCS makes it more challenging for scientists and clinicians to achieve advancements in its management. We observed that anti-TG medications, especially fibrate derivatives, can be used safely in pediatric patients. They displayed excellent ability to control TG levels in combination with diet restrictions, and treatment compliance was good. Among fibrate derivatives, gemfibrozil controlled TG levels better than fenofibrate, and neither drug had significant side effects

Graves’ disease thyroid dermopathy: a case report

Abstract Background Graves’ disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves’ disease are multisystemic and include thyroid orbitopathy; pretibial myxedema, also referred to as thyroid dermopathy; and thyroid acropachy, described as a severe form of thyroid dermopathy. Our paper focuses on an atypical case of thyroid dermopathy. Case presentation An 11-year-old Saudi male presented with a prominent diffuse goiter and exophthalmos. Investigations were consistent with a diagnosis of Graves’ disease. The physical exam showed diffuse, non-pitting swelling of the ankle and penis, mimicking a lymphatic malformation. Further, multiple nodules were found on the hands and feet. Treatment of the nodules with cautery resulted in more severe nodules. Conclusion This report describes rare presentations of thyroid dermopathy mimicking lymphatic malformation. The Koebner phenomenon can explain this patient’s atypical presentations. Intralesional injections of triamcinolone and total thyroidectomy showed clear improvement

Burnout among Postgraduate Healthcare Trainees at a Tertiary Healthcare Center in Saudi Arabia

Objectives The aim of this study was to investigate the level of burnout among postgraduate healthcare trainees at a tertiary care center in Riyadh, Saudi Arabia, and assess the need to establish a well-being program. Methods This cross-sectional study was conducted between December 2021 and January 2022 and used two validated questionnaires: the Copenhagen Burnout Inventory (CBI) for assessing burnout among postgraduate healthcare trainees, and a questionnaire for assessing program directors’ opinion on the need for a well-being program. Results A total of 386 trainees and 85 program directors completed the questionnaire. In both groups, the majority of the respondents were male (trainees: 53.9%; program directors: 61.2%). A total of 226 trainees (58.5%) scored above the CBI burnout cut-off score, with the median score being highest in the personal domain (62.5,IQR: 45.8–75). In the univariate analysis, the mean burnout score was higher among trainees who were married (P = 0.036), had children (P = <0.001), and were seniors (P = 0.028), whereas in the multivariate analysis, the only significant predictor of burnout was having 1–2 children (P = 0.023) or 3–4 children (P = 0.013). In the program directors survey, 90.6% agreed that improving physicians’ well-being would directly rectify patients’ overall well-being, but only 28.2% stated that it is currently incorporated in the curriculum. Conclusion This study found that a large proportion of postgraduate healthcare trainees experience burnout, particularly in the personal domain. Although program directors supported the concept of trainees’ well-being, its incorporation into the curriculum was lacking, suggesting the necessity of establishing a well-being program

Assessing child protection training: A cross-sectional study among pediatric residents in Riyadh, Saudi Arabia

Background: Child abuse is a pervasive global issue with far-reaching consequences for individuals and communities. Objective: This study aimed to evaluate the experience of pediatric residents in identifying and managing child abuse cases in Riyadh, Saudi Arabia. Participants and setting: The study was conducted in Riyadh, Saudi Arabia; participants were residents in years 1–4 of the Saudi pediatric residency program. Methods: This is a cross-sectional study. A validated questionnaire was used to collect the data from February–September 2023. Descriptive analysis was done using STATA. Results: Out of 426 surveys sent, 251 responded (response rate: 58.92 %), of them, 239 complete responses were analyzed. Respondents were predominantly single 69.46 % and in various stages of residency. Most institutions had child protection specialists 80.75 %, and 83.26 % had a dedicated team. Nearly half of all pediatric residents (47.28 %) surveyed are unsatisfied with training in child protection. Despite that, in Riyadh, few institutions offer appropriate training as part of their residency programs. When assessing the competency in evaluating various child abuse forms, residents felt not competent in sexual 64.01 % and emotional abuse 55.65 %. While 57.56 % felt competent in evaluating failure to thrive cases. The majority of residents (76.15 %) anticipate dealing with child abuse cases as practicing pediatricians. Conclusions: The results revealed a need for improvement, particularly in the competency of evaluating child abuse cases. Despite the presence of child protection teams in most institutions, responding to residents' unmet need for child protection training requires curriculum reform and training that hones the practical skills essential for recognizing and managing child abuse cases

Effectiveness of traditional non-carbapenem β-lactams vs. novel β-lactams for the treatment of carbapenem-resistant Pseudomonas aeruginosa: a retrospective cohort study

Abstract Background The World Health Organization (WHO) has identified carbapenem-resistant Pseudomonas aeruginosa (CRPA) as one of the three critical priority pathogens. There is scarce literature evaluating the treatment outcomes in patients with CRPA infections treated with traditional non-carbapenem β-lactam (NCBL) agents. Thus, this study aims to assess the effectiveness of traditional NCBL compared to novel β-lactam agents (NVL) for treating non-carbapenem β-lactam -susceptible CRPA. Methods A single-center retrospective cohort study was conducted between January 2016 and December 2022. The study included adult patients 18 years and older with infection due to CRPA who were treated based on microbiology sensitivity with traditional NCBL or NVL for more than 48 h. The primary outcome was 30-day mortality. Results 124 patients were included: 98 (79%) in the NCBL group and 26 (20.9%) in the NVL group. 78 (62.9%) patients were male. The median (interquartile range (IQR)) age of included patients was 64 (45, 77) years. A total of 84 (67.7%) patients were critically ill, with an overall median (IQR) APACHE II score of 18 (13.5, 23). The rates of 30-day mortality in NCBL and NVL groups were 41 (41.8%) and 12 (46.2%), respectively; P = 0.692. Conclusion In patients with CRPA infections susceptible to traditional NCBL, there was no statisticallly significant difference in 30-day mortality among patients who were treated with traditional NCBL compared with NVL. Further studies with larger sample sizes are needed to confirm these findings

Evolving Epidemiology of Pediatric Respiratory Syncytial Virus (RSV) Cases Around COVID-19 Pandemic: Impact and Clinical Insights, Retrospective Cohort Study

Abstract Background The burden of respiratory syncytial virus (RSV) in high-risk pediatric patients remains unclear. Therefore, this study aims to characterize pediatric RSV cases from January 2019 to December 2022 and assess the impact of the COVID-19 pandemic on RSV burden and RSV-related outcomes. In addition, examining factors influencing RSV-related hospitalization. Methods This is a retrospective study that included pediatric patients (aged 14 and below) who presented at King Faisal Specialist Hospital and Research Centre (KFSHRC) in Riyadh, Saudi Arabia with RSV infection identified using real-time reverse-transcriptase polymerase chain reaction assays. Statistical analyses were performed using STATA. Results A total of 885 RSV cases were reported; (56.05%) were males and (43.95%) were females with a median age of 24 months [interquartile range (IQR): 11–60]. 534 (60.34%) required hospitalization. As for RSV seasonality, there was a significant increase in RSV prevalence following the COVID-19 pandemic, escalating from 205 cases in 2019 to 425 cases in 2022. The increase in 2022 was evident in January and persisted from September to December, reaching its peak during the months of October (20.70% − 88 cases) and November (32.00% − 136 cases). About (27.12%) of RSV infected children were medically free patients. Symptomatic patients exhibited various clinical manifestations, with ventilation necessary in (13.11%) of cases. Further analysis revealed significant changes in RSV-related outcomes post-COVID-19, including a decrease in hospitalization rates, an increase in medically free patients, and a lower need for ventilation (p < 0.05). Notably, a significant proportion of RSV admissions occurred within the first 6 months of life, with (77.69%) in the age group of 0 to 5 months. In addition, previous RSV infection, prematurity, low birth weight, renal disease, congenital heart disease, endocrine/metabolic disease, neuro/neuromuscular diseases, and genetic disorders were positively associated with hospitalization (P < 0.05). Interestingly, asthma and bone marrow transplantation were negatively associated with hospitalization (P < 0.05). The mortality rate in this study is (2.37%) (21/885). Conclusion This study provides a comprehensive understanding of the demographic and clinical factors influencing RSV outcomes, highlighting the impact of the COVID-19 pandemic and shedding light on potential risk factors for RSV-related hospitalization. The highest prevalence of RSV during (September to January), aligning with global patterns and emphasizing the importance of timing in preventive strategies

The outcome of high-frequency oscillatory ventilation in pediatric patients with acute respiratory distress syndrome in an intensive care unit

BACKGROUND: In adults with acute respiratory distress syndrome (ARDS), high-frequency oscillatory ventilation (HFOV) has been associated with higher mortality rates. Therefore, its use in children with ARDS is still controversial. OBJECTIVES: Evaluate the overall mortality of HFOV in children with ARDS and explore mortality-related risk factors; compare the outcome of using HFOV post-endotracheal intubation early (≤24 hours) versus late (≤24 hours). DESIGN: Retrospective (medical record review) SETTING: Pediatric intensive care unit in a tertiary care center in Saudi Arabia. PATIENTS AND METHODS: Data were collected from medical records of all pediatric patients with ARDS aged one week to 14 years, who were admitted to the pediatric intensive care unit (PICU) from January 2016-June 2019 and who required HFOV. MAIN OUTCOME MEASURES: PICU mortality. SAMPLE SIZE AND CHARACTERISTICS: 135 ARDS patients including 74 females (54.8%), and 61 males (45.2%), with a median age (interquar-tile range) of 35 (72) months. RESULTS: The overall mortality rate was 60.0% (81/135), and most died in the first 28 days in the PICU (91.3%, 74/8). Of non-survivors, 75.3% (61/81) were immunocompromised, and 24.7% (20/81) were immuno-competent patients, 52 (64.2%) received inotropic support, 40 (49.4%) had a bone-marrow transplant (BMT) before HFOV initiation. Although the prone position was used in 20.7% (28/135) to improve the survival rate post-HFOV ventilation, only 28.6% (8/28) survived. In addition, altered code status or chemotherapy reported a significant association with mortality (P24 hours); (57.4% vs. 42.6%, P=.721). CONCLUSION: Immunocompromised and oncology patients, including post-BMT, reported poorer outcomes, and neither the prone position nor early use of HFOV improved outcomes. However, it is recommended to replicate the study in a larger cohort to generalize the results. LIMITATIONS: Retrospective single-center study