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Cystinosis is a rare autosomal recessive disorder in which cystine crystals accumulate within the cellular lysosomes, causing damage to multiple organs. Due to challenges with the stringent cysteamine treatment regimen and side effects, adherence is often sub-optimal. This study aimed to assess the level of adherence to cysteamine therapy among cystinosis patients in Saudi Arabia and its impact on their quality of life. Electronic medical record data of 39 cystinosis patients from the Department of Nephrology at King Faisal Specialist Hospital and Research Center in Saudi Arabia were reviewed, and 25 patients were included in this study. Out of the 25 patients included in the final analysis, 64% (n = 16) were female. The mean age was 19.04 years. Almost all patients (23/25, 92%) were on oral IR cysteamine therapy, and 52% (13/25) were on topical cysteamine eye drop treatment. Of the 15 patients who responded to the Morisky Medication Adherence Scale-8 (MMAS-8) questionnaire, only 4 (26.7%) were highly adherent to cysteamine therapy. Most of the respondents (7/15, 46.7%) showed a medium level of treatment adherence. Based on the medication possession ratio for oral cysteamine, only 6 out of 23 patients (26.1%) were found to be 96–100% adherent. For the cysteamine eye drops, only 5/13 patients (38.4%) were 76–95% adherent. The 36-Item Short Form Health Survey (SF-36) used to assess patients' health-related outcomes showed that their quality of life was affected in the domains of 'social functioning' and 'energy/fatigue.' Despite a small sample size, this study shows sub-optimal adherence to cysteamine treatment in patients from Saudi Arabia. The possible reasons for low treatment adherence could be a high frequency of administration and treatment-related side effects. [ABSTRACT FROM AUTHOR]

Artificial Intelligence (AI), particularly AI-Generated Imagery, has the potential to impact medical and patient education. This research explores the use of AI-generated imagery, from text-to-images, in medical education, focusing on congenital heart diseases (CHD). Utilizing ChatGPT's DALL·E 3, the research aims to assess the accuracy and educational value of AI-created images for 20 common CHDs. In this study, we utilized DALL·E 3 to generate a comprehensive set of 110 images, comprising ten images depicting the normal human heart and five images for each of the 20 common CHDs. The generated images were evaluated by a diverse group of 33 healthcare professionals. This cohort included cardiology experts, pediatricians, non-pediatric faculty members, trainees (medical students, interns, pediatric residents), and pediatric nurses. Utilizing a structured framework, these professionals assessed each image for anatomical accuracy, the usefulness of in-picture text, its appeal to medical professionals, and the image's potential applicability in medical presentations. Each item was assessed on a Likert scale of three. The assessments produced a total of 3630 images' assessments. Most AI-generated cardiac images were rated poorly as follows: 80.8% of images were rated as anatomically incorrect or fabricated, 85.2% rated to have incorrect text labels, 78.1% rated as not usable for medical education. The nurses and medical interns were found to have a more positive perception about the AI-generated cardiac images compared to the faculty members, pediatricians, and cardiology experts. Complex congenital anomalies were found to be significantly more predicted to anatomical fabrication compared to simple cardiac anomalies. There were significant challenges identified in image generation. Based on our findings, we recommend a vigilant approach towards the use of AI-generated imagery in medical education at present, underscoring the imperative for thorough validation and the importance of collaboration across disciplines. While we advise against its immediate integration until further validations are conducted, the study advocates for future AI-models to be fine-tuned with accurate medical data, enhancing their reliability and educational utility. [ABSTRACT FROM AUTHOR]

Background: This study aimed to determine the prevalence and etiology of kidney failure (KF) among children below 15 years of age receiving chronic dialysis in Saudi Arabia and describe their dialysis modalities. Methods: This cross-sectional descriptive study was conducted on 8 August 2022, encompassing all 23 pediatric dialysis centers in Saudi Arabia. Data gathered comprised patient demographics, causes of KF, and the dialysis methods employed. Collected data underwent analysis to determine prevalence of children undergoing chronic dialysis, discern underlying causes of KF, and evaluate distribution of patients across different dialysis modalities. Results: The prevalence of children on chronic dialysis is 77.6 per million children living in Saudi Arabia, equating to 419 children. The predominant underlying cause of KF was congenital anomalies of the kidneys and urinary tract (CAKUT), representing a substantial 41% of cases. Following this, others or unknown etiologies accounted for a noteworthy 25% of cases, with focal segmental glomerulosclerosis (FSGS) comprising 13%, glomerulonephritis at 11%, and congenital nephrotic syndrome contributing 10% to etiological distribution. Regarding dialysis modalities employed, 67% of patients were on peritoneal dialysis (PD), while the remaining 33% were on hemodialysis (HD). Conclusions: This first nationwide study of pediatric chronic dialysis in Saudi Arabia sheds light on the prevalence of children undergoing chronic dialysis and underlying causes of their KF, thereby contributing to our understanding of clinical management considerations. This research serves as a stepping stone for the development of national registries. [ABSTRACT FROM AUTHOR]

Background: Dialysis disequilibrium syndrome (DDS) is a rare but significant concern in adult and pediatric patients undergoing dialysis initiation with advanced uremia or if done after an interval. It is imperative to gain insights into the epidemiological patterns, pathophysiological mechanisms, and preventive strategies aimed at averting the onset of this ailment. Design: Prospective observational quality improvement initiative cohort study. Setting and Participants: A prospective single‐center study involving 50 pediatric patients under 18 years recently diagnosed with chronic kidney disease stage V with blood urea ≥200 mg/dL, admitted to our tertiary care center for dialysis initiation from January 2017 to October 2023. Quality Improvement Plan: A standardized protocol was developed and followed for hemodialysis in pediatric patients with advanced uremia. This protocol included measures such as lower urea reduction ratios (targeted at 20%–30%) with shorter dialysis sessions and linear dialysate sodium profiling. Prophylactic administration of mannitol and 25% dextrose was also done to prevent the incidence of dialysis disequilibrium syndrome. Measures: Incidence of dialysis disequilibrium syndrome and severe dialysis disequilibrium syndrome, mortality, urea reduction ratios (URRs), neurological outcome at discharge, and development of complications such as infection and hypotension. Long‐term outcomes were assessed at the 1‐year follow‐up including adherence to dialysis, renal transplantation, death, and loss to follow‐up. Results: The median serum creatinine and urea levels at presentation were 7.93 and 224 mg/dL, respectively. A total of 20% of patients had neurological symptoms attributable to advanced uremia at the time of presentation. The incidence of dialysis disequilibrium syndrome was 4% (n = 2) with severe dialysis disequilibrium syndrome only 2% (n = 1). Overall mortality was 8% (n = 4) but none of the deaths were attributed to dialysis disequilibrium syndrome. The mean urea reduction ratios for the first, second, and third dialysis sessions were 23.45%, 34.56%, and 33.50%, respectively. The patients with dialysis disequilibrium syndrome were discharged with normal neurological status. Long‐term outcomes showed 88% adherence to dialysis and 38% renal transplantation. Limitations: This study is characterized by a single‐center design, nonrandomized approach, and limited sample size. Conclusions: Our structured protocol served as a framework for standardizing procedures contributing to low incidence rates of dialysis disequilibrium syndrome. [ABSTRACT FROM AUTHOR]

Background: Diuretics are commonly used in neonatal AKI with the rationale to decrease positive fluid balance in critically sick neonates. The patterns of furosemide use vary among hospitals, which necessitates the need for a well-designed study. Methods: The TINKER (The Indian Iconic Neonatal Kidney Educational Registry) study provides a database, spanning 14 centres across India since August 2018. Admitted neonates (≤ 28 days) receiving intravenous fluids for at least 48 h were included. Neonatal KDIGO criteria were used for the AKI diagnosis. Detailed clinical and laboratory parameters were collected, including the indications of furosemide use, detailed dosing, and the duration of furosemide use (in days). Results: A total of 600 neonates with AKI were included. Furosemide was used in 8.8% of the neonates (53/600). Common indications of furosemide use were significant cardiac disease, fluid overload, oliguria, BPD, RDS, hypertension, and hyperkalemia. The odds of mortality was higher in neonates < 37 weeks gestational age with AKI who received furosemide compared to those who did not receive furosemide 3.78 [(1.60–8.94); p = 0.003; univariate analysis] and [3.30 (1.11–9.82); p = 0.03]; multivariate logistic regression]. Conclusions: In preterm neonates with AKI, mortality was independently associated with furosemide treatment. The furosemide usage rates were higher in neonates with associated co-morbidities, i.e. significant cardiac diseases or surgical interventions. Sicker babies needed more resuscitation at birth, and died early, and hence needed shorter furosemide courses. Thus, survival probability was higher in neonates treated with long furosemide courses vs. short courses. [ABSTRACT FROM AUTHOR]

Background: Organ transplantation is inherently dependent on the availability of organ donors. There is a noticeable paucity of literature addressing the rates of organ donation registration and the awareness of Islamic regulations (Fatwa) regarding organ donation within Saudi Arabia. Our study aimed to evaluate the level of organ donation registration, awareness of Islamic regulations, and knowledge of the Saudi Center for Organ Transplantation (SCOT) within the Saudi society. Methods: We conducted a cross-sectional survey from 30 March to 9 April 2023. This survey aimed to assess the awareness of Islamic (Fatwa) guidance on organ donation, the role of SCOT, and the rate of organ donation registration facilitated through the Tawakkalna app, the official health passport application in Saudi Arabia. Results: Out of 2329 respondents, 21% had registered as potential deceased organ donors, despite 87% acknowledging the importance of organ donation. Awareness of the Islamic Fatwa regarding organ donation was reported by 54.7% of respondents, and 37% recognized the Fatwa's acceptance of brain death criteria. The likelihood of registration as organ donors was higher among Saudi citizens under 45 years of age, females, healthcare workers (HCWs), individuals with higher education, relatives of patients awaiting organ donations, those informed about the Islamic Fatwas, and those willing to donate organs to friends. Conversely, being over the age of 25, Saudi nationality, employment as an HCW, awareness of SCOT, and prior organ donation registration were predictive of a heightened awareness of Islamic Fatwas. However, perceiving the importance of organ donation correlated with a lower awareness of the Fatwas. Significant positive correlations were found between awareness of SCOT, awareness of Fatwas, and registration for organ donation. Conclusions: While the Saudi population exhibits a high regard for the importance of organ donation, this recognition is not adequately translated into registration rates. The discrepancy may be attributable to limited awareness of SCOT and the relevant Islamic Fatwas. It is imperative to initiate organ donation awareness campaigns that focus on religious authorization to boost organ donation rates and rectify prevalent misconceptions. [ABSTRACT FROM AUTHOR]

AI algorithms can help identify patients at risk of kidney disease, predict the progression of kidney disease and personalise treatment plans based on individual patient data. ChatGPT answer 2: Artificial intelligence (AI) has the potential to revolutionise kidney care by helping clinicians better predict, diagnose and treat kidney diseases. AI and kidney care ChatGPT answer 1: Artificial intelligence (AI) has the potential to revolutionise kidney care by providing more accurate and timely diagnosis, treatment, and monitoring of kidney diseases. Keywords: AI; ChatGPT EN AI ChatGPT 1844 1848 5 08/10/23 20230901 NES 230901 Abbreviations AI artificial intelligence Rapid advances have been made in artificial intelligence (AI) and researchers are constantly increasing their use of this technology. [Extracted from the article]

This study aimed to assess the knowledge, attitudes, and intended practices of healthcare workers (HCWs) in Saudi Arabia towards ChatGPT, an artificial intelligence (AI) Chatbot, within the first three months after its launch. We also aimed to identify potential barriers to AI Chatbot adoption among healthcare professionals. A cross-sectional survey was conducted among 1057 HCWs in Saudi Arabia, distributed electronically via social media channels from 21 February to 6 March 2023. The survey evaluated HCWs' familiarity with ChatGPT-3.5, their satisfaction, intended future use, and perceived usefulness in healthcare practice. Of the respondents, 18.4% had used ChatGPT for healthcare purposes, while 84.1% of non-users expressed interest in utilizing AI Chatbots in the future. Most participants (75.1%) were comfortable with incorporating ChatGPT into their healthcare practice. HCWs perceived the Chatbot to be useful in various aspects of healthcare, such as medical decision-making (39.5%), patient and family support (44.7%), medical literature appraisal (48.5%), and medical research assistance (65.9%). A majority (76.7%) believed ChatGPT could positively impact the future of healthcare systems. Nevertheless, concerns about credibility and the source of information provided by AI Chatbots (46.9%) were identified as the main barriers. Although HCWs recognize ChatGPT as a valuable addition to digital health in the early stages of adoption, addressing concerns regarding accuracy, reliability, and medicolegal implications is crucial. Therefore, due to their unreliability, the current forms of ChatGPT and other Chatbots should not be used for diagnostic or treatment purposes without human expert oversight. Ensuring the trustworthiness and dependability of AI Chatbots is essential for successful implementation in healthcare settings. Future research should focus on evaluating the clinical outcomes of ChatGPT and benchmarking its performance against other AI Chatbots. [ABSTRACT FROM AUTHOR]

Background: Primary hyperoxalurias (PHs) constitute rare disorders resulting in abnormal glyoxalate metabolism. PH-associated phenotypes range from progressive nephrocalcinosis and/or recurrent urolithiasis to early kidney failure. Methods: A retrospective study was conducted for patients with confirmed PH diagnoses from three tertiary centers in Saudi Arabia. Detailed clinical molecular diagnosis was performed for 25 affected individuals. Whole exome sequencing (WES)–based molecular diagnosis was performed for all affected individuals. Results: The male:female ratio was 52% male (n = 13) and 48% female (n = 12), and consanguinity was present in 88%. Nephrolithiasis and/or nephrocalcinosis were present in all patients. Kidney stones were present in 72%, nephrocalcinosis in 60%, hematuria in 32%, proteinuria in 16%, abdominal pain in 36%, developmental delay in 8%, and chronic kidney disease stage 5 (CKD stage 5) was observed in 28% of the patients. The most common PH disorder was type I caused by variants in the AGXT gene, accounting for 56%. The GRHPR gene variants were identified in 4 patients, 16% of the total cases. Seven patients did not reveal any associated variants. Missense variants were the most commonly observed variants (48%), followed by frame-shift duplication variants (28%). Conclusions: Characterization of the genetic and clinical aspects of PH in this unique population provides direction for improved patient management and further research. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to assess COVID-19 vaccine acceptance, uptake, and hesitancy among parents and caregivers of children in Saudi Arabia during the initial rollout of pediatric COVID-19 vaccination. Methods: An electronic survey was used to collect data from participants who visited a COVID-19 vaccine center. The survey included demographic data, COVID-19 vaccine status among participants and their children, and reasons for vaccine acceptance or rejection. The Vaccine Hesitancy Scale (VHS) tool was also employed to assess vaccine hesitancy and attitudes toward the COVID-19 vaccine and routine childhood vaccination. Multivariate binary regression analysis was used to identify predictors of actual COVID-19 vaccine uptake among children. Results: Of the 873 respondents included in the analysis, 61.5% were parents and 38.5% were other caregivers. Of the participants, 96.9% had received the COVID-19 vaccine. Six hundred and ninety-four participants accepted the vaccine for their children, with the main reasons being an endorsement by the Saudi Ministry of Health (60%) and the importance of going back to school (55%). One hundred and seventy-nine participants would not vaccinate their children, with the most common reasons being fear of adverse effects (49%) and inadequate data about vaccine safety (48%). Factors such as age, COVID-19 vaccination status, self-rated family commitment level, attitudes toward routine children's vaccines, and participants' generalized anxiety disorder (GAD7) score did not significantly correlate with children's COVID-19 vaccination status. Parents were less likely to vaccinate their children compared to other caregivers, and participants with a higher socioeconomic status were more likely to vaccinate their children. Conclusion: Vaccine acceptance and uptake were high during the initial pediatric COVID-19 vaccination rollout in Saudi Arabia. Still, the ongoing endorsement of the Ministry of Health and healthcare authorities should continue to advocate for better vaccine uptake in children. [ABSTRACT FROM AUTHOR]

Idiopathic nephrotic syndrome is the most frequent pediatric glomerular disease, affecting from 1.15 to 16.9 per 100,000 children per year globally. It is characterized by massive proteinuria, hypoalbuminemia, and/or concomitant edema. Approximately 85–90% of patients attain complete remission of proteinuria within 4–6 weeks of treatment with glucocorticoids, and therefore, have steroid-sensitive nephrotic syndrome (SSNS). Among those patients who are steroid sensitive, 70–80% will have at least one relapse during follow-up, and up to 50% of these patients will experience frequent relapses or become dependent on glucocorticoids to maintain remission. The dose and duration of steroid treatment to prolong time between relapses remains a subject of much debate, and patients continue to experience a high prevalence of steroid-related morbidity. Various steroid-sparing immunosuppressive drugs have been used in clinical practice; however, there is marked practice variation in the selection of these drugs and timing of their introduction during the course of the disease. Therefore, international evidence-based clinical practice recommendations (CPRs) are needed to guide clinical practice and reduce practice variation. The International Pediatric Nephrology Association (IPNA) convened a team of experts including pediatric nephrologists, an adult nephrologist, and a patient representative to develop comprehensive CPRs on the diagnosis and management of SSNS in children. After performing a systematic literature review on 12 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions, recommendations were formulated and formally graded at several virtual consensus meetings. New definitions for treatment outcomes to help guide change of therapy and recommendations for important research questions are given. [ABSTRACT FROM AUTHOR]

Background: In response to the global Mpox outbreaks, this survey aimed to assess the knowledge, perceptions, and advocacy of Mpox vaccines among solid organ transplant healthcare workers (HCWs) in Saudi Arabia. Methods: A cross-sectional survey was conducted among solid organ transplant HCWs in Saudi Arabia from 15 August to 5 September 2022. A total of 199 responses were received from participants primarily working in the kidney (54.8%) and liver (14.6%) transplant units. Results: The survey found that most participants were aware of the 2022 Mpox outbreak, but the majority were more concerned about COVID-19 than Mpox. While the majority of participants thought laboratory personnel and HCWs in direct contact with Mpox patients should receive the vaccine, less than 60% believed that all HCWs should be vaccinated. Additionally, over half of the participants lacked knowledge of animal–human transmission of the virus. Conclusion: The results highlight the need for increased education on Mpox among transplant HCWs in Saudi Arabia, particularly regarding the virus's transmission dynamics and vaccines. This education is crucial to improve HCWs' understanding of this emerging disease, especially given their vulnerability during the COVID-19 pandemic. [ABSTRACT FROM AUTHOR]

Background: Acute kidney injury (AKI) is a common complication in patients with diabetic ketoacidosis (DKA) (incidence 35–77%). AKI evolution during DKA treatment/recovery is poorly understood. Our aim was to assess children with DKA for prevalence, short-term kidney outcomes, severity, and predictors of AKI development and resolution. Methods: This retrospective cohort study included children aged 2–14 years admitted with DKA between January 2016 and May 2020 in a Saudi tertiary care hospital. We defined AKI as an increase in serum creatinine of > 1.5 times baseline or > 3 mg/dL (26 mmol/L) within 48 h. Results: Of 213 patients admitted with DKA, 172 (80.75%) developed AKI: stage 1 in 83 (38.96%), stage 2 in 86 (40.37%), and stage 3 in 3 (1.4%). No patient required dialysis. Multivariate analysis showed an increased risk of developing AKI with male gender (OR = 2.85) and lower serum bicarbonate (OR = 0.83) when adjusted for initial heart rate, hematocrit, new onset diabetes, and recurrent AKI. The mean time to AKI resolution was 13.21 ± 6.78 h. Factors leading to prolonged recovery from AKI in linear regression analysis were older age (B coefficient = 0.44, p = 0.01), recurrent DKA episodes (B coefficient = 3.70, p value 0.003), increased acidosis severity (B coefficient = − 0.44, p = 0.04), increased time to anion gap normalization (B coefficient = 0.44, p = 0.019), and increased initial glucose (B coefficient = 0.01, p = 0.011). Conclusion: In our cohort, AKI is a common, but mostly transient complication in children presenting with DKA, and its severity is associated with longer intensive care stays and time for acidosis resolution. AKI was associated with male gender, and lower serum bicarbonate. Proper consideration of such risk factors is needed for AKI assessment and management in future DKA clinical practice guidelines. A higher resolution version of the Graphical abstract is available as Supplementary information [ABSTRACT FROM AUTHOR]

Background: Monkeypox disease (MPOX) recently re-emerged in May 2022, causing international outbreaks in multiple non-endemic countries. This study demonstrates a novel comparison between the knowledge and perceptions of Saudi healthcare workers (HCWs) and the general public regarding MPOX. Methods: An online survey, conducted from 27 May to 5 June 2022, assessing participants' MPOX and monkeypox virus (MPV) knowledge in terms of transmission, vaccination, isolation precautions, and their attitudes toward seeking more information. Results: A total of 1546 members of the public and 1130 HCWs completed the survey. Briefly, 61.3% of the public and 74.2% of HCWs showed interest in seeking more information about MPOX. Both groups had average overall mean MPOX knowledge scores. Members of the public holding university degrees and those showing high levels of worry regarding MPOX had significantly higher knowledge scores. However, HCWs showed a poor vaccination knowledge score, while only 57% recognized that MPOX can present similarly to COVID-19 in the early stages. Female HCWs and those with high self-rated MPOX awareness had significantly high knowledge scores. HCWs in secondary and tertiary centers had significantly higher knowledge scores. Conclusion: Both groups showed a decent attitude in terms of seeking more MPOX knowledge, which correlated positively with their worry about and awareness of the disease. These observations are mostly as a consequence of the ongoing COVID-19 pandemic, which encouraged the public and HCW to acquire more information about any novel emerging disease. Policymakers should make the most of this attitude in their awareness campaigns to prevent the spread of the disease and encourage vaccination in cases where it is needed. The knowledge gaps among HCWs were most evident in terms of clinical presentation and vaccinations; this problem needs addressing if we are to avoid further emerging MPOX cases. [ABSTRACT FROM AUTHOR]

Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening thrombotic microangiopathy (TMA), which has been treated successfully with eculizumab. The optimal duration of eculizumab in treating patients with aHUS remains poorly defined. Methods: We conducted a multicenter retrospective study in the Arabian Gulf region for children of less than 18 years of age who were diagnosed with aHUS and who discontinued eculizumab between June 2013 and June 2021 to assess the rate and risk factors of aHUS recurrence. Results: We analyzed 28 patients with a clinical diagnosis of aHUS who had discontinued eculizumab. The most common reason for the discontinuation of eculizumab was renal and hematological remission (71.4%), followed by negative genetic testing (28.6%). During a median follow-up period of 24 months after discontinuation, 8 patients (28.5%) experienced HUS relapse. The risk factors of recurrence were positive genetic mutations (p = 0.020). On the other hand, there was no significant relationship between the relapse and age of presentation, the need for acute dialysis, the duration of eculizumab therapy before discontinuation, or the timing of eculizumab after the presentation. Regarding the renal outcomes after discontinuation, 23 patients were in remission with normal renal function, while 4 patients had chronic kidney disease (CKD) (three of them had pre-existing chronic kidney disease (CKD) before discontinuation, and one case developed a new CKD after discontinuation) and one patient underwent transplantation. Conclusions: The discontinuation of eculizumab in patients with aHUS is not without risk; it can result in HUS recurrence. Eculizumab discontinuation can be performed with close monitoring of the patients. It is essential to assess risk the factors for relapse before eculizumab discontinuation, in particular in children with a positive complement variant and any degree of residual CKD, as HUS relapse may lead to additional loss of kidney function. Resuming eculizumab promptly after relapse is effective in most patients. [ABSTRACT FROM AUTHOR]

Pathogenic variants in GEMIN4 have recently been linked to an inherited autosomal recessive neurodevelopmental disorder characterized with microcephaly, cataracts, and renal abnormalities (NEDMCR syndrome). This report provides a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 mutations. The cohort comprises 11 new and unpublished clinical details from five previously described patients. Only two missense, homozygous, pathogenic variants were found in all affected patients, suggesting a founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations. In addition, we knocked down endogenous Drosophila GEMIN4 in neurons to further investigate the mechanism of the functional defects in affected patients. Our fly model findings demonstrated developmental defects and motor dysfunction suggesting that loss of GEMIN4 function is detrimental in vivo; likely similar to human patients. To date, this study presents the largest cohort of patients affected with GEMIN4 mutations. Considering that identifying GEMIN4 defects in patients presenting with neurodevelopmental delay and congenital cataract will help in early diagnosis, appropriate management and prevention plans that can be made for affected families. [ABSTRACT FROM AUTHOR]

Background: Monkeypox virus re-surged in May 2022 as a new potential global health threat, with outbreaks bursting in multiple countries across different continents. This study was conducted in Saudi Arabia during the first month following the WHO announcement of the Monkeypox outbreak, to assess healthcare workers (HCWs) perceptions of, worries concerning, and vaccine acceptance for, Monkeypox, in light of the resolving COVID-19 pandemic. Methods: A national cross-sectional survey was conducted between 27 May and 10 June 2022, in Saudi Arabia. Data were collected on: HCWs' sociodemographic and job-related characteristics; COVID-19 infection status; and worries concerning Monkeypox, compared to COVID-19 and its sources; as well as their perceptions and awareness of, and advocacy for, supporting Monkeypox vaccination. Results: A total of 1130 HCWs completed the survey, of which 41.6% have already developed COVID-19. However, 56.5% were more concerned about COVID-19 compared to Monkeypox, while the rest were more worried about Monkeypox disease. The main cause for concern among 68.8% of the participants was the development of another worldwide pandemic, post-COVID-19, followed by their concern of either themselves or their families contracting the infection (49.6%). Most HCWs (60%) rated their level of self-awareness of Monkeypox disease as moderate to high. Males, and those who had previously developed COVID-19, were significantly less likely to worry about Monkeypox. The worry about Monkeypox developing into a pandemic, and the perception of Monkeypox being a severe disease, correlated significantly positively with the odds of high worry concerning the disease. The major predictors of participants' advocacy for vaccination against Monkeypox disease were: those who had developed COVID-19 previously; and those who supported tighter infection control measures (than those currently used) to combat the disease. A total of 74.2% of the surveyed HCWs perceived that they needed to read more about Monkeypox disease. Conclusions: Approximately half of the HCWs in this study were more concerned about Monkeypox disease than COVID-19, particularly regarding its possible progression into a new pandemic, during the first month following the WHO's Monkeypox international alert. In addition, the majority of participants were in favor of applying tighter infection prevention measures to combat the disease. The current study highlights areas requiring attention for healthcare administrators regarding HCWs' perceptions and preparedness for Monkeypox, especially in the event of a local or international pandemic. [ABSTRACT FROM AUTHOR]

Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symmetrically increased T1 and decreased T2/fluid-attenuated inversion recovery signal intensity in the basal ganglia. This condition is secondary to a mutation in the SLC39A14 gene. Objective: To present a series of three cases of hypermanganesemia with dystonia type 2, which was genetically confirmed secondary to a mutation in the SLC39A14 gene, and to describe the treatment and clinical course in these cases. Design: A retrospective case series. Setting: University, Tertiary hospital. Participants: Three unrelated pediatric patients with hypermanganesemia with dystonia type 2, genetically confirmed to be secondary to a mutation in the SLC39A14 gene. Exposures: Chelation therapy using calcium disodium edetate. Main outcome(s) and measure(s): The response to chelation therapy based on clinical improvements in motor and cognition developments. Results: All three patients were started on chelation therapy using calcium disodium edetate, and two of them showed an improvement in their clinical course. The chelation therapy could alter the course of the disease and prevent deterioration in the clinical setting. Conclusions and Relevance: Early diagnosis and intervention with chelating agents, such as calcium disodium edetate, will help change the outcome in patients with hypermanganesemia with dystonia type 2. This finding highlights the importance of early diagnosis and treatment in improving the outcomes of patients with treatable neurodegenerative disorders. [ABSTRACT FROM AUTHOR]

Objectives: To present our experience of treating steroid-dependent nephrotic syndrome (SDNS) in children with repeated doses of rituximab (RTX) with a relatively long follow-up, and to discuss the role of the histopathology type and previous immune-suppressor (IS) drugs on the outcome of these patients. Methods: The patients included in this prospective study were children with SDNS who were in remission on a high-dose steroid or with additional IS drugs. All patients underwent renal biopsy before RTX treatment. Intravenous RTX was administered monthly at 375 mg/m² for 4 doses. Response to treatment was defined as maintaining remission with no steroid-sparing agents or prednisone for one year. Results: Seventeen (14 males) patients were enrolled. Approximately 76% had minimal change disease (MCD) and 3 (18%) patients had immunoglobulin M (IgM) nephropathy. Approximately 85% of MCD and 33% of IgM nephropathy showed complete response to RTX. Conclusion: Compared to other IS used to treat SDNS, RTX showed a significant decrease in relapse rate with fewer side effects. The dose and interval should be modified according to the patient’s characteristics, such as medical history, pathology type, and previous IS agents. [ABSTRACT FROM AUTHOR]

Kidney transplantation is the most effective treatment for pediatric kidney failure. The ideal age and weight for very young children, especially infants and toddlers, is a topic of debate among specialists. Early kidney transplantation offers benefits such as improved growth, cognitive development, psychosocial outcomes, and overall quality of life. It also reduces the need for prolonged dialysis and associated complications. However, there are challenges such as limited donor availability and surgical complexity. A recent study found that kidney transplantation in children under the age of two is associated with enhanced patient survival and reduced exposure to dialysis compared to waiting until the age of two or older. However, the study has limitations, including a restricted follow-up duration and potential selection bias. Overall, early kidney transplantation shows promise but further research is needed to refine selection criteria and improve post-transplant care. [Extracted from the article]

Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnormalities of the brain. Most patients die during early childhood. Here, we identified a novel homozygous O-sialoglycoprotein endopeptidase (OSGEP) variant, NM_017807.3:c.973C>G (p.Arg325Gly), in four affected individuals in an extended consanguineous family from Saudi Arabia. We have described the detailed clinical characterization, brain imaging results, and muscle biopsy findings. The described phenotype varied from embryonic lethality to early pregnancy loss or death at the age of 9. Renal disease is often the cause of death. Protein modeling of this OSGEP variant confirmed its pathogenicity. In addition, proteomic analysis of the affected patients proposed a link between the KEOPS complex function and human pathology and suggested potential pathogenic mechanisms. [ABSTRACT FROM AUTHOR]

Hematopoietic cell transplantation (HCT) is a common therapy for the treatment of neoplastic and metabolic disorders, hematological diseases, and fatal immunological deficiencies. HCT can be subcategorized as autologous or allogeneic, with each modality being associated with their own benefits, risks, and post-transplant complications. One of the most common complications includes acute kidney injury (AKI). However, diagnosing HCT patients with AKI early on remains quite difficult. Therefore, this evidence-based guideline, compiled by the Pediatric Continuous Renal Replacement Therapy (PCRRT) working group, presents the various factors that contribute to AKI and recommendations regarding optimization of therapy with minimal complications in HCT patients. [ABSTRACT FROM AUTHOR]

Background: The SARS-CoV-2 Omicron spread fast globally and became the predominant variant in many countries. Resumption of public regular life activities, including in-person schooling, presented parents with new sources of worry. Thus, it is important to study parental worry about the Omicron variant, willingness to vaccinate their children, and knowledge about school-based COVID-19 precautionary measures. Methods: A national, cross-sectional, pilot-validated online questionnaire targeting parents in the Kingdom of Saudi Arabia (KSA) was distributed between 31 December 2021, and 7 January 2022. The survey included sociodemographic, COVID-19 infection data, parental and children vaccination status, attitudes towards booster vaccine, parents' Omicron-related perceptions and worries, and attitude towards in-person schooling. Results: A total of 1340 participants completed the survey, most (65.3%) of whom were mothers. Of the parents, 96.3% either received two or three doses of the COVID-19 vaccine. Only 32.1% of the parents were willing to vaccinate their young children (5–11 years of age). In relation to their children 12–18 years of age, 48% had already had them vaccinated, 31% were planning to vaccinate them, and 42.8% were willing to administer a booster dose. Only 16% were more worried about the Omicron variant compared to the Delta variant. Residents of western KSA were more worried about Omicron compared to Delta. Parents worried about the Omicron variant and male participants were significantly less aware of school-based COVID-19 precautionary measures. Parents with post-graduate degrees and those having more children were significantly more inclined to send their children to school even if COVID-19 outbreaks could occur in schools, while parents who were more worried about the Omicron variant and were more committed to infection prevention measures were significantly less inclined to do so. Conclusions: Overall, parents had lower worry levels about the Omicron variant compared to the Delta variant. They had a higher willingness to vaccinate their older children compared to the younger ones. In addition, our cohort of parents showed high willingness to send their children to schools and trusted the school-based preventative measures. These findings can inform policy makers when considering school related decisions during the current or future public health crises. [ABSTRACT FROM AUTHOR]

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Objectives: This study aimed to identify coronavirus disease 2019 (COVID-19) vaccine perception, acceptance, confidence, hesitancy, and barriers among health care workers (HCWs). Methods: An online national cross-sectional pilot-validated questionnaire was self-administered by HCWs in Saudi Arabia, which is a nation with MERS-CoV experience. The main outcome variable was HCWs' acceptance of COVID-19 vaccine candidates. The factors associated with vaccination acceptance were identified through a logistic regression analysis, and the level of anxiety was measured using a validated instrument to measure general anxiety levels. Results: Out of the 1512 HCWs who completed the study questionnaire—of which 62.4% were women—70% were willing to receive COVID-19 vaccines. A logistic regression analysis revealed that male HCWs (ORa = 1.551, 95% CI: 1.122–2.144), HCWs who believe in vaccine safety (ORa = 2.151; 95% CI: 1.708–2.708), HCWs who believe that COVID vaccines are the most likely way to stop the pandemic (ORa = 1.539; 95% CI: 1.259–1.881), and HCWs who rely on the Centers for Disease Control and Prevention website for COVID 19 updates (ORa = 1.505, 95% CI: 1.125–2.013) were significantly associated with reporting a willingness to be vaccinated. However, HCWs who believed that the vaccines were rushed without evidence-informed testing were found to be 60% less inclined to accept COVID-19 vaccines (ORa = 0.394, 95% CI: 0.298–0.522). Conclusion: Most HCWs are willing to receive COVID-19 vaccines once they are available; the satisfactoriness of COVID-19 vaccination among HCWs is crucial because health professionals' knowledge and confidence toward vaccines are important determining factors for not only their own vaccine acceptance but also recommendation for such vaccines to their patients. [ABSTRACT FROM AUTHOR]

Clinical practice guidelines (CPGs) are systematically developed statements backed by scientific evidence to assist practitioners in management in clinical practice. An international cross-sectional survey was conducted by the IPNA to examine the perceptions of pediatric nephrologists on guidelines and their usage and to identify important diseases for future clinical practice guidelines (CPGs). The survey found that the majority of pediatric nephrologists find CPGs useful in clinical practice and admitted to using them most of the time. Developing CPGs is challenging and there are standards available to develop trustworthy guidelines. While evidence-based global guidelines are ideal, pediatric nephrologists expressed the desire that they address regional differences. Most respondents (89.2%) to the survey agreed that adult guidelines did not cover the pediatric perspective adequately and 71.4% opined that consensus-based pediatric guidelines can be developed when evidence for the pediatric population is lacking. The development of high-quality practice guidelines requires substantial resources and may not be feasible in resource-poor countries. Adaptation of an existing guideline has been suggested as an alternative and the ADAPTE collaboration provides a systematic approach to adapting guidelines. Several diseases where pediatric guidelines are needed as a priority including IgA and C3 glomerulopathy were identified in the survey. Implementation of guideline-based care is challenging and the survey found that lack of availability of guidelines (43%) and resources (22.8%) are important reasons for poor implementation in lower-middle and low-income countries. Perceived complexity of guidelines, physician attitudes, and lack of training also contribute to non-adherence to guidelines. [ABSTRACT FROM AUTHOR]

Background: Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans. Methods: We describe our experience with a cohort of 481 cases in whom the cause of premature death was investigated using DNA from the index or relatives (molecular autopsy by proxy). Molecular autopsy tool was typically exome sequencing although some were investigated using targeted approaches in the earlier stages of the study; these include positional mapping, targeted gene sequencing, chromosomal microarray, and gene panels. Results: The study includes 449 cases from consanguineous families and 141 lacked family history (simplex). The age range was embryos to 18 years. A likely causal variant (pathogenic/likely pathogenic) was identified in 63.8% (307/481), a much higher yield compared to the general diagnostic yield (43%) from the same population. The predominance of recessive lethal alleles allowed us to implement molecular autopsy by proxy in 55 couples, and the yield was similarly high (63.6%). We also note the occurrence of biallelic lethal forms of typically non-lethal dominant disorders, sometimes representing a novel bona fide biallelic recessive disease trait. Forty-six disease genes with no OMIM phenotype were identified in the course of this study. The presented data support the candidacy of two other previously reported novel disease genes (FAAH2 and MSN). The focus on lethal phenotypes revealed many examples of interesting phenotypic expansion as well as remarkable variability in clinical presentation. Furthermore, important insights into population genetics and variant interpretation are highlighted based on the results. Conclusions: Molecular autopsy, broadly defined, proved to be a helpful clinical approach that provides unique insights into lethal variants and the clinical annotation of the human genome. [ABSTRACT FROM AUTHOR]

The initial report of the multisystem inflammatory syndrome in children (MIS-C) was from the UK in April 2020; since then, cases have been reported worldwide. Renal involvement has been seen commonly, ranging from 10% to 46%. Kidney involvement following severe acute respiratory syndrome coronavirus 2 infection in children with MIS-C is more common than initially thought and is associated with higher morbidity and mortality. There are several reports of a direct viral tropism of coronavirus disease 2019 and MIS-C-associated renal damage. This study's objective was to systematically review the current understanding of kidney involvement in children suffering from MIS-C. Based on our systemic literature search, 19 studies have either partially or fully discussed kidney involvement in MIS-C patients. Furthermore, we discuss the multifactorial pathogenesis contributing to acute kidney injury (AKI) development in MIS-C. The current review gives a pediatric nephrologist's perspective of the renal involvement in MIS-C, the incidence of AKI, the pathophysiology of AKI in MIS-C and the proposed therapeutic regimens available, including the need for kidney replacement therapy for a child with AKI associated with MIS-C. As the disease is rapidly evolving, more detailed clinical prospective studies are required to understand MIS-C and its role in AKI better. [ABSTRACT FROM AUTHOR]

Background: Medical training programs candidate's interview is an integral part of the residency matching process. During the coronavirus disease 2019 (COVID-19) pandemic, conducting these interviews was challenging due to infection prevention restrains (social distancing, namely) and travel restrictions. E-interviews were implemented by the Saudi Commission for Healthcare Specialties (SCFHS) since the matching cycle of March 2020 to hold the interviews in a safer virtual environment while maintaining the same matching quality and standards. Aim: This study was conducted to assess the medical training residency program applicants' satisfaction, stress, and other perspectives for the (SCFHS) March 2020 Matching-cycle conducted through an urgently implemented E-interviews process. Method: A cross-sectional, nationwide survey (Additional file 1) was sent to 4153 residency-nominated applicants to the (SCFHS) March 2020 cycle. Results: Among the 510 candidates who responded, 62.2% applied for medical specialties, 20.2% applied for surgical specialties, and 17.6% applied for critical care and emergency specialties. Most respondents (61.2%) never had previous experience with web-based video conferences. Most respondents (80.2%) used the Zoom application to conduct the current E-interviews, whereas only 15.9% used the FaceTime application. 63.3% of the respondents preferred E-interviews over in-person interviews, and 60.6% rated their experience as very good or excellent. 75.7% of the respondents agreed that all their residency program queries were adequately addressed during the E-interviews. At the same time, 52.2% of them agreed that E-interviews allowed them to represent themselves accurately. 28.2% felt no stress at all with their E-interviews experience, while 41.2% felt little stressed and only 8.2% felt highly stressed. The factors that were independently and inversely associated with applicants' level of stress with E-interviews experience were their ability to represent themselves during the interviews (p = 0.001), cost-savings (p < 0.001), their overall rating of the E-interviews quality (p = 0.007) and the speed of the internet connection (p < 0.006). Conclusion: Videoconferencing was implemented on an urgent basis during the COVID-19 pandemic in the medical residency application process in Saudi Arabia. It was perceived as an adequate and promising tool to replace in-person interviews in the future. Applicants' satisfaction was mainly driven by good organization, cost-saving, and their ability to present themselves. Future studies to enhance this experience are warranted. [ABSTRACT FROM AUTHOR]

Background: Several factors influence patients' length of stay (LOS) in pediatric intensive care units (PICUs). This study explored the factors and cost associated with long LOS among pediatric patient population across various PICUs and pediatric surgical cardiac intensive care units (SCICUs). Methods: This is a multi-center concurrent mixed-methods study that was conducted in different PICUs and SCICUs in Riyadh, Saudi Arabia. The units' leaders were qualitatively interviewed to explore the potential factors contributing to long LOSs in PICUs and SCICUs, and deductive content analysis was used. Microcosting was utilized to estimate the inpatient costs for a sample of long-stay patients (LSPs) and the potential cost savings if those patients were transferred to step-down care units (SDUs) for those who stayed ≥ 60 days. Results: Ten (90%) leaders of PICUs and SCICUs who were invited had participated. Changing the admission criteria, patient transfer to SDUs, family engagement in the decision-making process, and adopting a national do-not-resuscitate (DNR) policy were factors contributing to short LOSs. On the other hand, administrative constraints, staff avoidance of code status decisions, lack of palliative care resources, and complex patient characteristics were factors associated with long LOSs. The mean inpatient cost per patient was SAR 3.63 million (USD 0.97 million), and the total cost for the 48 patients was SAR 172.95 million (USD 46.12 million). Conclusion: If the recommendation to transfer LSPs after a 60-day PICU stay to SDUs is taken, the estimated cost savings among this sample of patients alone can be as high as SAR 109.47 million (USD 29.19 million). Therefore, future studies should examine the factors contributing to long LOSs in PICUs and SCICUs as well as the effectiveness of different policies aimed at improving the resource allocation and management using more robust study designs and diverse patient population. [ABSTRACT FROM AUTHOR]

abstraction. Main Results: All 37 PICU physicians who participated in the handover completed the survey. The participants comprised six attendings, nine specialists, and 22 residents. While 20 (54.1%) physicians reported attending 1– 5 Zoom handovers by the time of the study, some (n. 6, 16.2%) had more than ten virtual handovers. They had variable previous teleconferencing experiences. Most physicians (78.4%) were comfortable conducting a remote handover. Most found that Situation–Background–Assessment–Recommendation handover elements were properly achieved through this remote handover process. The perceived advantages of online handover included fewer interruptions, time efficiency, and facilitation of social distancing. The perceived disadvantages were the paucity of nonverbal communication and teaching during virtual meetings. Conclusion: Video-conferencing applications for online handovers could supplement traditional face-to-face intensive care unit patient handover during outbreaks of infectious diseases. The use of video streaming and more emphasis on teaching should be encouraged to optimize the users' experience. [ABSTRACT FROM AUTHOR]

Background: Acute kidney injury (AKI) is a complication of coronavirus disease 2019 (COVID-19). The reported incidence of AKI, however, varies among studies. We aimed to evaluate the incidence of AKI and its association with mortality and morbidity in children infected with severe acute respiratory distress syndrome coronavirus 2 (SARS-CoV-2) who required hospital admission.Methods: This was a multicenter retrospective cohort study from three tertiary centers, which included children with confirmed COVID-19. All children were evaluated for AKI using the Kidney Disease Improving Global Outcomes (KDIGO) definition and staging.Results: Of 89 children included, 19 (21 %) developed AKI (52.6 % stage I). A high renal angina index score was correlated with severity of AKI. Also, multisystem inflammatory syndrome in children (MIS-C) was increased in children with AKI compared to those with normal kidney function (15 % vs. 1.5 %). Patients with AKI had significantly more pediatric intensive care admissions (PICU) (32 % vs. 2.8 %, p < 0.001) and mortality (42 % vs. 0 %, p < 0.001). However, AKI was not associated with prolonged hospitalization (58 % vs. 40 %, p = 0.163) or development of MIS-C (10.5 % vs. 1.4 %, p = 0.051). No patient in the AKI group required renal replacement therapy. Residual renal impairment at discharge occurred in 9 % of patients. This was significantly influenced by the presence of comorbidities, hypotension, hypoxia, heart failure, acute respiratory distress, hypernatremia, abnormal liver profile, high C-reactive protein, and positive blood culture.Conclusions: AKI occurred in one-fifth of children with SARS-CoV-2 infection requiring hospital admission, with one-third of those requiring PICU. AKI was associated with increased morbidity and mortality, and residual renal impairment at time of discharge. [ABSTRACT FROM AUTHOR]

Background: Nephrotic syndrome is the most common kidney disease in children worldwide. Our aim was to critically appraise the quality of recent Clinical Practice Guidelines (CPGs) for idiopathic steroid-sensitive nephrotic syndrome (SSNS) in children in addition to summarize and compare their recommendations. Methods: Systematic review of CPGs. We identified clinical questions and eligibility criteria and searched and screened for CPGs using bibliographic and CPG databases. Each included CPG was assessed by four independent appraisers using the Appraisal of Guidelines for REsearch & Evaluation II (AGREE-II) instrument. We summarized the recommendations in a comparison practical table. Results: Our search retrieved 282 citations, of which three CPGs were eligible and appraised: Kidney Disease: Improving Global Outcomes (KDIGO) 2012, Japan Society for Pediatric Nephrology (JSPN) 2014, and American Academy of Pediatrics (AAP) 2009. Among these, the overall assessment of two evidence-based CPGs scored > 70% (KDIGO and JSPN), which was consistent with their higher scores in the six domains of the AGREE II Instrument. In domain 3 (rigor of development), KDIGO, JSPN, and AAP scored 84%, 74%, and 41%, respectively. In domain 5 (applicability), they scored 22%, 16%, and 19%, respectively, and in domain 6 (editorial independence), they scored 94%, 65%, and 88%, respectively. Conclusions: The methodological quality of the KDIGO CPG was superior, followed by JSPN and AAP CPGs with the relevant recommendations for use in practice. Systematic review registration: The protocol was registered in the Center for Open Science (OSF) DOI: 10.17605/OSF.IO/6QTMD and in the International prospective register of systematic reviews PROSPERO 2020 CRD42020197511. [ABSTRACT FROM AUTHOR]

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Sphingosine‐1‐phosphate (S1P) lyase is a vitamin B6‐dependent enzyme that degrades sphingosine‐1‐phosphate in the final step of sphingolipid metabolism. In 2017, a new inherited disorder was described caused by mutations in SGPL1, which encodes sphingosine phosphate lyase (SPL). This condition is referred to as SPL insufficiency syndrome (SPLIS) or alternatively as nephrotic syndrome type 14 (NPHS14). Patients with SPLIS exhibit lymphopenia, nephrosis, adrenal insufficiency, and/or neurological defects. No targeted therapy for SPLIS has been reported. Vitamin B6 supplementation has therapeutic activity in some genetic diseases involving B6‐dependent enzymes, a finding ascribed largely to the vitamin's chaperone function. We investigated whether B6 supplementation might have activity in SPLIS patients. We retrospectively monitored responses of disease biomarkers in patients supplemented with B6 and measured SPL activity and sphingolipids in B6‐treated patient‐derived fibroblasts. In two patients, disease biomarkers responded to B6 supplementation. S1P abundance and activity levels increased and sphingolipids decreased in response to B6. One responsive patient is homozygous for an SPL R222Q variant present in almost 30% of SPLIS patients. Molecular modeling suggests the variant distorts the dimer interface which could be overcome by cofactor supplementation. We demonstrate the first potential targeted therapy for SPLIS and suggest that 30% of SPLIS patients might respond to cofactor supplementation. [ABSTRACT FROM AUTHOR]

Background/Aim: Several PK studies have shown that most pediatric patients may require higher doses on a mg/kg basis compared to adults to attain similar therapeutic trough concentrations. The aim of this study was to compare the efficacy and safety of three times daily to twice a day dosing of tacrolimus in pediatric kidney transplant recipients at a major tertiary care transplant center. Methods and Materials: Retrospective, single‐center, and comparative cohort study. All pediatric kidney transplant recipients received either tacrolimus BID (group 1) or tacrolimus TID (group 2). Results: A total of 87 patients were included in this study; 48 patients received BID tacrolimus (group 1), and 39 patients received TID tacrolimus (group 2). The percentage of patients who achieved therapeutic trough concentrations in group 2 did not significantly differ from those in group 1 at day 7 (84.62% TID vs 83.33% BID; P =.42). The median time to reach therapeutic trough concentrations was three days in group 1 compared to four days in group 2. Conclusion: No significant difference was observed between tacrolimus BID and TID dosing in the time to reach therapeutic trough concentration or in the proportion of patients achieving therapeutic trough concentrations at day 7. [ABSTRACT FROM AUTHOR]

Background: Approximately 50% of children with steroid-sensitive nephrotic syndrome (SSNS) will suffer from frequent relapses or steroid dependency, prompting the use of so-called steroid-sparing drugs. In this pilot study, we compare the efficacy and safety of rituximab to oral cyclophosphamide as first-line steroid-sparing medications. Methods: A prospective open-label non-randomized study of children with frequent relapsing or steroid-dependant SSNS. Exclusion criteria were steroid-resistant disease, prescription of immunosuppressive agents other than prednisolone or levamisole, evidence of impaired kidney function, leucopenia, or active infection. The recruited children were allocated either to the oral cyclophosphamide (3 mg/kg/day for 8 weeks) or intravenous rituximab treatment (two doses of 375 mg/m2/dose, 2 weeks apart) and were monitored for relapses and side effects for 12 months. Results: Forty-six subjects were included from two centers; 27 received cyclophosphamide and 19 received rituximab. One-year relapse-free survival was reached in 17 (58.6%) patients treated with cyclophosphamide compared to 16 (84.2%) with rituximab (adjusted HR 0.36; 95% CI 0.09–1.45; p = 0.151). The mean interval to relapse was 6.9 months in the cyclophosphamide group (N = 10) and 6.3 months in the rituximab group (N = 3). Both treatments were associated with a significant (p < 0.001) reduction in prescribed dose of oral alternate-day steroid from 1.02 to 0.36 mg/kg (cyclophosphamide) and 0.86 to 0.08 mg/kg (rituximab). Importantly, a significantly (p = 0.003) higher percentage of patients achieved complete withdrawal of steroid within 3 months of commencing study treatment in the rituximab (73.7%) versus cyclophosphamide (29.6%) group. Transient leucopenia was the most frequent adverse effect observed in the cyclophosphamide group (18.5%) and one patient (3.4%) had acute hepatotoxicity besides severe leucopenia and neutropenia in the 7th week of treatment with complete recovery with the withdrawal of cyclophosphamide and maintenance of remission. A minor infusion-related reaction in the form of a generalized macular skin rash was observed in one patient (5%) in the rituximab group. Conclusions: Rituximab is non-inferior to cyclophosphamide and safe as a first-line steroid-sparing agent in children with SSNS. A larger multicenter study is required to assess superiority over cyclophosphamide. [ABSTRACT FROM AUTHOR]

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Introduction: Recently, prolonged intermittent renal replacement therapies (PIRRT) have emerged as cost‐effective alternatives to conventional CRRT and their use in the pediatric population has started to become more prominent. However, there is a lack of consensus guidelines on the use of PIRRT in pediatric patients in an intensive care setting. Methods: A literature search was performed on PubMed/Medline, Embase, and Google Scholar in conjunction with medical librarians from both India and the Cleveland Clinic hospital system to find relevant articles. The Pediatric Continuous Renal Replacement Therapy workgroup analyzed all articles for relevancy, proposed recommendations, and graded each recommendation for their strength of evidence. Results: Of the 60 studies eligible for review, the workgroup considered data from 37 studies to formulate guidelines for the use of PIRRT in children. The guidelines focused on the definition, indications, machines, and prescription of PIRRT. Conclusion: Although the literature on the use of PIRRT in children is limited, the current studies give credence to their benefits and these expert recommendations are a valuable first step in the continued study of PIRRT in the pediatric population. [ABSTRACT FROM AUTHOR]

Objectives: To identify the trends in the diagnostic frequency of glomerular disease subtypes by renal biopsy in children in Saudi Arabia over the last 20 years. Methods: In this retrospective observational study, we identified all patients aged <18 years for whom native kidney biopsy was performed between 1998 and 2017. The period during which biopsy was performed (1998-2004, 2005-2011, and 2012-2017) and the demographic information and their association with the prevalence of various glomerular disease subtypes were our primary outcomes. Results: A total of 326 cases with renal biopsy were analyzed; the mean age of participants being 11 years and 45.4% of them were girls. Unexpectedly, secondary glomerulonephritis accounted for 42.3% of the cases, and lupus nephritis was the most common cause noted in 20.7% of the cases. The minimal change and focal segmental glomerulosclerosis were the most common glomerulonephritis in 59% of the cases. The frequency of membranoproliferative glomerulonephritis and mesangioproliferative glomerulonephritis significantly decreased from 15% and 17% in the period prior to 2004 to 3.3% (p=0.003) and 1.7% in 2012-2017 (p<0.001). Conclusions: We found a considerable shift in the frequency of many glomerular disease subtypes in 1998-2017, which make clinical predication of the underlying etiology challenging for clinician. Renal biopsy still remains a critical diagnostic procedure for managing a considerable proportion of renal diseases. [ABSTRACT FROM AUTHOR]

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Background: Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene mutations. This study aimed to analyze all genetic mutations associated with congenital and infantile nephrotic syndrome treated at our institution. We also discussed our different approach secondary to culture and resources. Methods: A retrospective single-center study of all children diagnosed as NS before the age of 1 year over a duration of over one decade. Results: Twenty-nine children (12 boys) were included in the study. Their median age (range) was 2.4 (0.1–12) months (20 CNS and 9 INS). Consanguinity was present in 90% of children. The genetic analysis' results were only available for 20 children. An underlying causative homozygous mutation was detected in 18 children (90%): NPHS1 (9), NPHS2(2), LAMB2(3), PLCE1(1), WT1(1), and ITSN1 novel mutation (2). One child had heterozygous mutation of NPHS2 and another child had heterozygous mutation of NPHS1 which could not explain the disease. All CNS cases were all managed with intermittent intravenous albumin infusion, ACEi, diuretics, and indomethacin. None of the children were managed by nephrectomy followed by peritoneal dialysis (PD) because of limited resources. Only one child achieved partial remission, while 15 children died at a median (range) age of 5.8 (1.25–29) months. The remaining 14 children were followed up for an average of 36 (3.9–120) months. Three children progressed to end-stage kidney disease and PD was performed in only two children. Conclusions: NPHS1 is the main underlying cause of CNS and INS in our study population. CNS and INS were associated with high morbidity and mortality. [ABSTRACT FROM AUTHOR]

Objectives: To determine physicians' attitudes and stated practice in the management of patients with spinal muscular atrophy (SMA). We also aimed to explore their knowledge about consensus statement for standard of care in SMA and the role of new treatment modalities in changing the method of practice in the management of these cases. Methods: This is a quantitative observational crosssectional study, conducted from February to May 2017 among physicians who manage SMA patients in Kingdom of Saudi Arabia. The study cohort included pediatric neurologists, adult neurologists, and physicians of other sub-specialties who manage SMA patients. We used online and paper-based questionnaires. Results: Half of the 169 participants were aware of the consensus guidelines for the care of SMA patients. With regard to the newly released Nursinersen treatment protocol for SMA-diagnosed patients, half of the participants were uncertain, and the other half were hesitant about its outcomes. Junior physicians tended to be significantly more inclined to reverse the do-not-resuscitate (DNR) status of an SMAdiagnosed child than more senior physicians. Conclusion: Our results indicate the existence of wide differences in physician practice with children of SMA disease. Our data demonstrate a need for increased awareness of consensus guidelines and further awareness about the physician's role in the variability of care for children with SMA. [ABSTRACT FROM AUTHOR]

Objective: Interleukin 13 (IL-13) plays a critical pro-inflammatory role in asthma. Several single nucleotide polymorphisms (SNPs) are associated with asthma susceptibility in specific populations; however, further replicative studies in other ethnic groups are mandatory. Methods: The association between IL-13 SNPs rs762534, rs20541, rs1295686, and rs1800925 (risk alleles A, A, T, and A, respectively) and asthma predisposition in a Saudi Arabian cohort was examined via a case-control cross-sectional study. Results: The frequencies of alleles between asthmatics and control populations were significantly different for rs20541 and rs1295686 SNPs (p < 0.001), whereas the frequencies of genotypes between asthmatics and controls were significantly different only for rs20541. The association of the risk (minor) alleles with asthma was examined using the dominant genetic model. Individuals with at least one copy of the risk alleles A (for rs20541) and T (for rs1295686) had significantly greater odds of being asthmatic (OR = 2.13, 95% CI = 1.39-3.26, p < 0.0001; OR = 1.69, 95% CI = 1.12-2.54, p = 0.008) relative to their most common homozygous genotypes. On the other hand, the minor A alleles for rs762534 and rs1800925 were not significantly associated with asthma risk. Regarding haplotype association analysis, individuals with at least one copy of the minor "risk" allele for both rs20541 and rs1295686 (CATG and CATA, respectively) had greater odds of being asthmatic relative to CGCG haplotype; however, this trend was not statistically significant (p > 0.3). Conclusions: IL-13 minor T and A alleles for rs1295686 and rs20541, respectively, were associated with significantly higher risk of asthma in the Saudi Arabian population. [ABSTRACT FROM AUTHOR]