Parents' Awareness and Knowledge of G6PD Deficiency in the Eastern Province Saudi Arabia: A Cross-Sectional Study.

Background Glucose-6-phosphate dehydrogenase deficiency, known as G6PD deficiency, is a common hematological disease in the Eastern Province. The presence of Glucose-6-phosphate dehydrogenase enzyme in the erythrocyte is crucial, as it aids in the protection of RBCs by preventing cellular damage. It was found that more than 400 million people in the world lack this enzyme, making it the most common enzyme deficiency worldwide. Because of the high prevalence of the disease in the world and the paucity of research in Saudi Arabia about G6PD deficiency, the idea of examining and assessing the awareness and knowledge of parents who have children affected with G6PD emerged. Objective This study aimed to evaluate parental knowledge regarding G6PD deficiency, identify the common and spread misconceptions regarding the disease, provide general insight for physicians about parental knowledge, and propose strategies to educate parents about G6PD deficiency. Methods This cross-sectional study was conducted from September 2022 to May 2023 on 459 individuals from the Eastern Province, Saudi Arabia. Using a questionnaire, parents with variable education levels and incomes participated. The questionnaire was available in both Arabic and English. The study aimed to gather comprehensive data regarding parental awareness and knowledge of G6PD deficiency, it focused on evaluating levels of awareness, knowledge, and misinformation of the participants. Data were analyzed by using Statistical Package for the Social Sciences, ver 22 (IBM Corp., Armonk, NY). The chi-square test was applied to check any association between demographics and level of knowledge (Good and Poor). Multiple logistic regression analysis was performed on significant demographic variables and an odds ratio with a 95% confidence interval was calculated. P < 0.05 was considered statistically significant. Results The study included a total of 459 participants, 309 (67.3%) were females and 150 (32.7%) were males. Regarding the demographics, the majority of the participants were <40 years old (61.9%), Saudi (99.3%), married (98.5%), having bachelor's/diploma level or above (Master/PhD) (76.9%), having inherited disorder (44.2%), and having a family history of chronic diseases (82.6%). Furthermore, regarding the knowledge of the disease, the majority of the participants who recognized the disease (82.1%) were familiar with the term fava bean anemia rather than it being called G6PD deficiency anemia. On the other hand, 73.2% of the participants were unable to recognize the disease and had never heard of G6PD deficiency anemia. In addition, the majority of participants had deficient information regarding medication triggers (61.4%), whether the gender of a person is linked to G6PD (77.5%), and whether both parents must be carriers to have a child with G6PD deficiency anemia (50.9%). Female respondents proved to be more knowledgeable regarding this topic as 57.9% of them showed good knowledge as compared to (44.7%) of the male subjects. Conclusion There are discrepancies in the level of awareness among research participants. Our result indicates the need for educational interventions regarding the nomenclature, medication triggers, inheritance mode and its relation to gender, and the symptoms of the disease and its severity. Therefore, it is advised to spread awareness in the eastern province through brochures, medical campaigns, and by healthcare professionals in different medical organizations.

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

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

Successful Treatment of Pediatric Acute Myeloid Leukemia Presenting with Hyperbilirubinemia Secondary to Myeloid Sarcoma: A Case Report.

Myeloid sarcoma (MS), a tumor consisting of myeloid blasts with or without maturation, occurs at anatomical sites other than the bone marrow. MS of the gastrointestinal tract presenting with jaundice in children is rare. We report the case of a 4-year-old boy with a 6-week history of symptoms of obstructive jaundice due to a peripancreatic mass compressing the common bile duct. Six weeks later, blasts were found in a peripheral smear prior to surgical biopsy; bone marrow evaluation and flow cytometry results led to a diagnosis of acute myeloid leukemia (AML) with MS. No further invasive testing or temporary drainage was performed. He was started on induction therapy with full therapeutic doses of cytarabine, dose reductions of etoposide, and escalating doses of daunorubicin. His liver enzymes normalized, and he completed subsequent cycles of chemotherapy with full doses. The abdominal ultrasound showed resolution of the mass after the second cycle of chemotherapy. He is currently in remission three years after completing therapy. AML-directed chemotherapy in patients with obstructive jaundice secondary to MS may be beneficial without requiring invasive testing or temporary drainage procedures. Daily follow-up is crucial for chemotherapy dose modifications. Management plans should be individualized according to the patient's clinical condition.

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

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

Non-Transfusion-Dependent Thalassemia: A Panoramic Review.

Non-transfusion-dependent thalassemia (NTDT) has been considered less severe than its transfusion-dependent variants. The most common forms of NTDT include ß-thalassemia intermedia, hemoglobin E/beta thalassemia, and hemoglobin H disease. Patients with NTDT develop several clinical complications, despite their regular transfusion independence. Ineffective erythropoiesis, iron overload, and hypercoagulability are pathophysiological factors that lead to morbidities in these patients. Therefore, an early and accurate diagnosis of NTDT is essential to ascertaining early interventions. Currently, several conventional management options are available, with guidelines suggested by the Thalassemia International Federation, and novel therapies are being developed in light of the advancement of the understanding of this disease. This review aimed to increase clinicians' awareness of NTDT, from its basic medical definition and genetics to its pathophysiology. Specific complications to NTDT were reviewed, along with the risk factors for its development. The indications of different therapeutic options were outlined, and recent advancements were reviewed.

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

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

Different Clinicoradiological Characteristics of Posterior Reversible Encephalopathy Syndrome in Pediatric Oncology and Post-Bone Marrow Transplantation Cases: A Retrospective Study.

Posterior reversible encephalopathy syndrome (PRES) is receiving increasing recognition in pediatrics. However, comparisons between PRES in pediatric oncology and post-bone marrow transplantation (BMT) are lacking. Therefore, we aimed to describe the risk factors and clinical and radiological features of PRES and investigate the differences between PRES in pediatric oncology and post-BMT. The PRES data of 13 patients from our center were combined with those of 217 cases from the PubMed, Scopus, and Web of Science databases. The patients were divided into either an oncology or a post-BMT group. We included 230 patients in the analysis, 26.1% of whom belonged to the post-BMT group. Oncology patients developed PRES at a younger age (p = 0.010) and were more likely to develop encephalopathy (p = 0.004). Systemic hypertension (S-HTN) preceding PRES occurred in 43.5% (66/154) of patients. Post-BMT patients were more likely to have S-HTN (p = 0.003). Cyclosporine levels were detected in 37 patients; 40.5% had supra-therapeutic levels. The radiological findings were atypical in 74.3% of patients, and delayed repeated imaging increased the occurrence of resolution (p = 0.004). Sixteen (7%) patients developed PRES recurrence after a median of 8 weeks, with the between-group difference being non-significant. Oncology patients were more likely to develop chronic epilepsy, while BMT patients were more likely to develop rare neurologic abnormalities (p < 0.001). In conclusion, atypical clinical presentation and imaging findings should not hinder the diagnosis of PRES. S-HTN is a risk factor, particularly in post-BMT patients. Supra-therapeutic levels of cyclosporine and previous exposure to immunosuppression did not increase the risk of recurrence.

Blood utilization and quality indicators at a university hospital in the Eastern Province of Saudi Arabia.

BACKGROUND: Blood transfusion is a common, essential procedure when treating many different medical and surgical conditions. Efficient utilization of blood bank facilities by frequent auditing is crucial; however, few studies have examined blood utilization in Saudi Arabia. We aimed to review the blood ordering patterns and transfusion practices, and blood bank audit effectiveness at a single center in Saudi Arabia and compare our results with those of a similar study performed in the same center 20 years ago. MATERIALS AND METHODS: This study was a retrospective descriptive chart review of all healthy blood donors and recipients from January 1, 2016, to December 31, 2020. We evaluated the crossmatching-to-transfusion ratio (C/T) as an indicator of blood bank utilization and compared the findings with those of the previous study. We also evaluated changes in blood bank utilization during the coronavirus disease 2019 pandemic. RESULTS: Findings from 27,414 donors (men, 94.9%; mean age, 32.2 + 9.6 years) showed a 71% increase in blood donations compared to that of 2000. The donations gradually increased over the years, peaking just before COVID-19 pandemic started in March 2020. For 3,836 patients, 13,324 units of blood were crossmatched (average, 3.47 crossmatch/patient), with 23% of the crossmatch requests from surgical departments. The average C/T ratio, transfusion index, and transfusion probability (T%) were 1.37, 2.55, and 73.2%, respectively. The C/T ratio decreased by 54% between 2000 and 2020. During the pandemic, crossmatching decreased by 26% between 2019 and 2020, but with comparable C/T ratio in 2019 (1.45) and 2020 (1.39). CONCLUSION: Our hospital blood bank utilization improved over the past 20 years, showing increased donations, reduced C/T ratio, and increased T%. This improvement emphasizes the importance of blood donation campaigns, blood bank auditing, restrictive transfusion guidelines, and physician education.

Maternal Blood Group and Routine Direct Antiglobulin Testing in Neonates: Is There a Role for Selective Neonatal Testing?

Recommendations for the screening of hemolytic disease of the newborn (HDN) advise taking a selective approach in using the direct antiglobulin test (DAT) for mothers with blood group O or RhD-negative. This study assessed the relation of DAT results to maternal and neonatal blood groups and evaluated the risk of HDN. A retrospective analysis of all healthy newborns admitted during 2018 was performed. Of 1463 newborns, 4.4% had a positive DAT. There were 541 (37%) maternal-neonatal pairs with ABO incompatibility, most commonly born to mothers with blood group O. The cohort of neonates born to mothers with blood group O was divided into three groups: the O-A and O-B groups and the O-O group as a control. The DAT was positive in 59 (8.3%) neonates; most were in the O-B group (49.2%), whereas 13.6% were in the control group (p < 0.01). While the neonates in the O-B group were more likely to require phototherapy (p = 0.03), this finding was not related to DAT results. We found that selective testing of mothers with blood group O, mothers with blood group O or RhD-negative, neonates with blood group B, and neonates with blood group B born to mothers with blood group O or RhD-negative was ineffective in detecting phototherapy requirements. Our results indicate no difference regarding the need for phototherapy in neonates born to mothers with different blood types regardless of the DAT results.

Value of the Direct Antiglobulin Test in Predicting the Need for Phototherapy in Newborns.

PURPOSE: Guidelines for managing neonatal hemolytic disease of the newborn (HDN) recommend a selective approach in the use of direct antiglobulin test (DAT). In Saudi Arabia, many hospitals still perform routine DAT for all newborns. This study assessed the need for phototherapy in relation to DAT results in full-term healthy newborns. PATIENTS AND METHODS: A retrospective analysis of all healthy newborns admitted during 2018 was performed. The primary outcome was the association of positive DAT results with phototherapy. RESULTS: There were 1463 newborns born during the study period. The DAT was positive at 4.4%. The 24-hour bilirubin levels were higher in DAT-positive cases (P=0.06); however, peak bilirubin levels were not correlated with the DAT results (P=0.717). Thirty-six neonates (2.46%) required phototherapy, and the need was similar among DAT-positive and DAT-negative cases (P=0.271). The most common indication for phototherapy was clinical jaundice in 22 neonates (61.1%), followed by DAT positivity in 12 (33.3%) and hospital protocol in 2 patients (5.6%) (P <0.01 by chi-square overall comparison). CONCLUSION: Our results indicate that factors other than DAT positivity are important in assessing the need for phototherapy in newborns. Clinical signs of jaundice were indicators of high serum bilirubin levels and subsequent phototherapy, further indicating that the DAT test was overused in predicting the need for phototherapy.

Aggressive Metastatic Inflammatory Myofibroblastic Tumor After Allogeneic Stem Cell Transplant With Fatal Pulmonary Toxicity From Crizotinib.

Inflammatory myofibroblastic tumors (IMTs) are rare tumors with an intermediate spectrum of biological behavior. IMTs are uncommon secondary malignancies after hematopoietic stem cell transplant. The presence of anaplastic lymphoma kinase rearrangements in 50% of IMTs has led to therapeutic trials with crizotinib, although limited experience remains with crizotinib use in children. We describe the first reported case of a highly aggressive and metastatic IMT (secondary malignancy) in an 8-year-old girl following umbilical cord blood transplant. Although tumor response was demonstrated with anaplastic lymphoma kinase inhibition, she later developed fatal pulmonary toxicity from diffuse alveolar damage, a feature felt most likely to be due to crizotinib.