ZAP-70 mutation: a case with familial autoimmune haemolytic anaemia and immune deficiency.

Zeta-chain associated protein kinase 70 kDa (ZAP-70) deficiency is one of the rare immunodeficiency disorders due to autosomal recessive homozygous or compound heterozygous loss-of-function mutations in the ZAP-70 GENE In the literature, patients with ZAP-70 deficiency have been reported with a broad spectrum of clinical manifestations including recurrent respiratory infections (81.8%), cutaneous involvement (57.9%), lymphoproliferation (32.4%), autoimmunity (19.4%), enteropathy (18.4%) and increased risk of malignancies (8.1%). The most common immunological phenotype in those patients was low CD8+ T cell counts (97.9%) and normal non-functioning CD4+ T cell. Haematopoietic stem cell transplantation was applied as a curative treatment for this disorder.

Transfusion of blood components in pediatric age groups: an evidence-based clinical practice guideline adapted for the use in Egypt using 'Adapted ADAPTE'.

Pediatric transfusion is a complex area of medicine covering a wide age range, from neonates to young adults. Compared to adult practice, there is a relative lack of high-quality research to inform evidence-based guidelines. We aimed to adapt the pre-existing high-quality practice guidelines for the transfusion of blood components in different pediatric age groups to be available for national use by general practitioners, pediatricians, and other health care professionals. The guideline panel included 17 key leaders from different Egyptian institutions. The panel used the Adapted ADAPTE methodology. The panel prioritized the health questions and recommendations according to their importance for clinicians and patients. The procedure included searching for existing guidelines, quality appraisal, and adaptation of the recommendations to the target context of use. The guideline covered all important aspects of the indications, dosing, and administration of packed red cells, platelets, and fresh frozen plasma. It also included transfusion in special situations, e.g., chronic hemolytic anemia and aplastic anemia, management of massive blood loss, malignancies, surgery, recommendations for safe transfusion practices, and recommendations for modifications of cellular blood components. The final version of the adapted clinical practice guideline (CPG) has been made after a thorough review by an external review panel and was guided by their official recommendations and modifications. A set of implementation tools included algorithms, tables, and flow charts to aid decision-making in practice. This adapted guideline serves as a tool for safe transfusion practices in different pediatric age groups.

Disseminated Basidiobolomycosis Caused by Basidiobolus omanensis in a Child with Acute Lymphoblastic Leukemia (ALL). Case Report and Literature Review.

Basidiobolomycosis is an uncommon fungal infection caused by the genus Basidiobolus. In immunocompetent children, it usually causes cutaneous infection and rarely affects the gastrointestinal tract, and it is extremely rare for the disease to spread. The present study reports the first case of disseminated basidiobolomycosis caused by Basidiobolus omanensis in a child with acute lymphoblastic leukemia who died as a result of uncontrolled infection and multi-organ failure despite surgical and antifungal therapy with L-AMB and voriconazole. A review of the literature yielded 76 cases, including the current case with the majority of which were reported as invasive gastrointestinal infection. The median age was 4 years (61 male and 15 female) and the majority of these children were from the Middle East (80%), specifically Saudi Arabia (45%). Most patients were treated with systemic antifungal agents (mostly itraconazole and amphotericin B). Surgical intervention was done in 25% of these patients and the death rate was 12%.

Compliance and clinical benefit of deferasirox granule and dispersible tablet formulation in pediatric patients with transfusional iron overload: in a randomized, open-label, multicenter, phase II study.

CALYPSO (NCT02435212), a randomized, open-label, multicenter, phase 2 study evaluated the compliance, clinical benefits, and safety of deferasirox granules and dispersible tablets in pediatric patients with iron overload. Iron chelation therapy-naive and iron chelation therapy-pre-treated patients aged 2 to 0.5 mg/mg; 24.5% and 34.2%), upper respiratory tract infection (28.2% and 29.7%), and pyrexia (26.4% and 23.4%). In iron chelation therapy-naive patients, mean compliance and change from baseline in serum ferritin with both deferasirox formulations were not significantly different. The safety profile was comparable between granule and dispersible tablets formulations, and was consistent with the general safety profile of deferasirox.

Chronic Disseminated Candidiasis in Children and the Role of Corticosteroids Therapy.

BACKGROUND: Little is known about chronic disseminated candidiasis (CDC) in children. This study was done to describe the epidemiology, risk factors and outcome of CDC in children managed at Sultan Qaboos University Hospital (SQUH), Oman, and to describe the role of corticosteroids in the management of immune reconstitution inflammatory syndrome (IRIS) complicating CDC. METHODS: We retrospectively reported demographic, clinical and laboratory data of all children managed in our center for CDC between January 2013 and December 2021. In addition, we discuss the available literature on the role of corticosteroids for management of CDC-related IRIS in children since 2005. RESULTS: Between January 2013 and December 2021, 36 immunocompromised children were diagnosed with invasive fungal infection at our center, of whom 6 had CDC (all with acute leukemia). Their median age was 5.75 years. Prolonged fever despite broad-spectrum antibiotics (6/6) followed by skin rash (4/6) were the most common clinical features of CDC. Four children grew Candida tropicalis from blood or skin. CDC-related IRIS was documented in 5 children (83%) and 2 received corticosteroids. Our literature review revealed that 28 children were managed with corticosteroids for CDC-related IRIS since 2005. The majority of these children had defervescence of fever within 48 hours. Prednisolone of 1-2 mg/kg/day for 2-6 weeks was the most common regimen used. No major side effects reported in these patients. CONCLUSION: CDC is more common in children with acute leukemia and CDC-related IRIS is not uncommon. Corticosteroid therapy looks effective and safe as adjunctive therapy for CDC-related IRIS.

Intramural duodenal haematoma in a child post-endoscopic biopsy.

Intramural duodenal haematoma is a rare complication of endoscopic biopsy. Though other causes such as blunt abdominal trauma are more common, it remains a rare problem in paediatric population. In this article, we report a patient who developed intramural duodenal haematoma following an endoscopic biopsy that was performed to look for evidence of gut graft versus host disease.

Unilateral Proptosis: A Rare Presenting Sign of Acute Myeloid Leukemia.

Unilateral proptosis is a rare initial presenting sign of acute myeloid leukemia (AML). We report a case of unilateral proptosis in a six-year-old girl as the initial manifestation of AML. The cancer link was initially missed and the case was investigated as one of hyperthyroidism. Peripheral blood smear and bone marrow aspirate evaluation showed signs diagnostic of AML. Computed tomography scan of orbits showed infiltrative process in the right orbit, right maxillary, and right ethmoidal sinuses. Unilateral proptosis as an extramedullary first presenting feature of AML is very rare; however, it should always be considered in the differential diagnosis of proptosis in pediatric age group.

Incorporation of Evidence-based Guidelines on Bleeding Risk Assessment Prior to Surgery into Practice: Real-time Experience.

Objectives: Despite guidelines recommending no need for coagulation testing before surgeries when a history of bleeding is negative, surgeons still overuse it in this part of the world. We aim to measure unbiased estimates of hemostatic outcomes in ear, nose, and throat (ENT) surgeries and assess the surgeons' behavior of preoperative coagulation testing. Methods: We enrolled all patients who underwent ENT surgeries from July 2017 to January 2018. The primary outcome was postoperative bleeding. Surgeons were asked about their decision on history alone or doing coagulation testing and their reason. Results: We recruited 730 patients; 372 were interviewed for a challenging bleeding history alone (group 1), and 358 had preoperative coagulation testing (group 2). Coagulation testing was repeated twice or more in 55.0% of patients, and more than half had coagulation factor and Von Willebrand factor assays. Most surgeons performed coagulation testing because of habitual practice. Conclusions: Almost half of the local surgeons consider coagulation testing as standard to evaluate bleeding risk before surgical procedures. This resulted in unnecessary delays in surgeries, parent/patient anxiety, and additional total cost. We recommend awareness campaigns for surgeons and the involvement of surgical societies to adhere to guidelines of detailed hemostatic history.

Cystic biliary atresia in a neonate with antenatally detected abdominal cyst.

Cystic biliary atresia (BA) is a rare but an important type of BA. An antenatally detected cystic lesion at the porta hepatis raises the suspicion of cystic BA. It is very important to differentiate this from choledochal cyst in infants with cholestasis and cystic lesions. This case report outlines the clinical presentation and radiological findings of an infant who had an antenatally detected intra-abdominal cystic mass, thought to be a choledochal cyst.

Extensive porto-splenic venous thrombosis postsplenectomy in a sickle cell disease: a rare complication.

Hereditary haemoglobinopathies are common disorders in Oman. The most common haematological disorder among Omani population is sickle cell disease (SCD). The spleen is one of the organs that is affected early in the first decade of life in SCD patients. Splenectomy has shown a high success rate in improving the quality of life in SCD patients, through eliminating acute splenic sequestration crises, thus reducing the need for hospital admission and transfusion requirements. One of the rare complications of splenectomy is porto-splenic vein thrombosis. Multiple factors are responsible for this complication including: thermal and mechanical injury during ligation of splenic hilum, sudden increase in the platelet count and large spleen size. We report a rare case of extensive porto-splenic vein thrombosis that responded to early initiation of anticoagulation with resolution of the thrombosis and recanalisation.

Age of Transition Readiness of Adolescents and Young Adults With Chronic Diseases in Oman: Need an Urgent Revisit.

BACKGROUND: The Ministry of Health in Oman and some of Gulf regions set the cut-off age of "transfer" from child health care to adult health care at 13 years of age. Within the existing health system in this part of the world, there is paucity of evidence on the appropriate age for health care "transfer" of adolescents and young adults to adult health care. Similarly, there is lack of a structured health care "transition" program. The objective of the study is to indirectly determine the appropriateness of present cut-off age of transfer by studying readiness for transition among Omani patients suffering from chronic hematological conditions. METHODS: One hundred fifty adolescents and young adults with chronic hematological conditions were recruited from pediatric and adults clinics at Sultan Qaboos University Hospital. Participants were interviewed by a trained research assistant using the Arabic version of UNC TRxANSITION Scale to assess self-management skills and health related knowledge for transition. The score range is 0 to 10; the transition readiness of the patients is assessed as low (0 to 4), moderate (4 to 6), and high (6 to 10) respectively. The continuous variables were analyzed by parametric or nonparametric methods as appropriate. χ2 analysis was done to determine association of age groups within each sexes. RESULTS: The study recruited 150 subjects (52.7% males) with 50 patients in each of the 3 age groups of 10 to 13 years (lower), 14 to 17 years (middle), and 18 to 21years (higher). The mean UNC TRxANSITION Scale scores of 5.14 (SD=1.27) in males in the total sample were significantly lower as compared with that of 5.67 (SD=1.50) in females (P=0.022). There is a steady increase in the overall median score with increase in age group, with median score of 4.42 in the lower, 5.26 in the middle and 6.81 in the higher age group (P<0.001). In section wise analysis, except for Adherence and Nutrition sections of the scale, all sections have statistically significant difference in the median scores across various age categories with lowest scores in the 10 to 13 age group and highest scores in the 18 to 21 years group. In the section related to reproduction, females had significantly higher mean ranks (31.52) and compared with 17.19 in males (P=0.001). The overall median transition score when analyzed separately for males and females across age groups showed that in the higher age group, 67% of males (P=0.008) and 90% females (P<0.001) have high transition scores compared with the other 2 groups. CONCLUSIONS: Higher age was a significant predictor for transition readiness with median score being "moderate" in the lower and middle age groups, while the higher age groups scoring "high" on transition readiness. However, in the higher age group, the females (90%) showed better transition readiness than males (67%). The current age of transfer of 13 years is just at "moderate" levels. We recommend the need for establishing transition preparation program in Oman; increasing health transfer age in Oman to a cut-off age of 18 years and taking sex differences into consideration when providing interventions.

Rare inherited coagulation disorders in young children in Oman.

Background: Rare coagulation disorders represent 3-5% of all inherited coagulation deficiencies and are usually inherited as autosomal recessive. Oman has high rate of consanguineous marriages; we aimed to study the prevalence, presentation and management in affected Omani children. Materials and Methods: Retrospective study in pediatric patients with rare coagulation disorders in a tertiary hospital in Oman from 2009 to 2020. Results: Rare coagulation disorders were diagnosed in 79 patients (39 males/40 females), aged 1 day to 13 years, accounting for 24.7% (79/319) of all children with inherited coagulation disorders; remainder included patients with hemophilia and von Willebrand disease. FXI deficiency was most common with prevalence of 39.2%, followed by fibrinogen disorders 32.9%, FVII 18.9%, FV 5%, FXIII 2.5%, and FX deficiencies 1.2%. Manifestations ranged from mild to serious to rare/atypical; presentation at birth, ruptured-hemorrhagic ovarian cyst, splenic laceration-rupture, and sight-threatening retrobulbar-intraocular hemorrhage. Intracranial hemorrhage (ICH) occurred in 9/79 patients, it was initial mode of presentation in seven of them. Global developmental delay as a complication occurred in three. Standardized treatment strategies were used with prophylaxis initiation early in life in severely affected children. Conclusions: This ethnic group demonstrated unique features in terms of: heterogenous/atypical presentations; severe manifestations in moderate phenotype hypofibrinogenemia; clinical severity and laboratory phenotype correlation in FV deficiency; poor association between factor activity level and bleeding severity in FVII deficiency and severe bleeding tendency despite moderate laboratory phenotype in FXIII deficiency. We recommend multicenter collaboration to identify the genotype-phenotype correlation and therapeutic options of such rare, yet serious disorders.

Outcome of Viral-associated Hemophagocytic Lymphohistiocytosis at a Tertiary Hospital.

BACKGROUND: Little is known about viral-associated hemophagocytic lymphohistiocytosis (HLH) in Oman. This study was done to assess the epidemiology, clinical features and outcome of viral-associated HLH in our setting. METHODS: We retrospectively reviewed children (0-18 years) managed for viral-associated HLH at the Sultan Qaboos University Hospital, Oman, over a 15-year period (2006-2020). Patients' medical records were used to describe their demographic, clinical and laboratory features, management and outcome. RESULTS: Fifty-six children were managed for HLH at Sultan Qaboos University Hospital over the last 15 years (2006-2020) of whom a third (19; 34%) had a viral trigger. The median age at the time of diagnosis of viral-associated HLH was 83 (13-96) months. Fever, cytopenia, hyperferritinemia and evidence of hemophagocytosis in bone marrow were the most consistent findings. Most of these children had either genetic predisposition to HLH (8/19; 42%) or underlying immunodeficiency secondary to malignant conditions or chemotherapy/hematopoietic stem cell transplantation (6/19; 32%). Epstein-Barr virus (9; 47%) followed by cytomegalovirus (6; 31%) was the most common viral trigger in our setting. Treatment included antivirals (8; 42%), HLH 2004 protocol (4; 21%), rituximab (4; 21%) and hematopoietic stem cell transplantation (3; 16%). Fourteen children (74%) had full recovery. CONCLUSIONS: In our small cohort, viral-associated HLH was more frequently encountered in children with genetic predisposition to HLH or children with underlying immunodeficiency. In addition, we found that the outcome is overall good for children who have no genetic predisposition to HLH and children with genetic predisposition who underwent hematopoietic stem cell transplantation.

Impact of the coronavirus disease 2019 (COVID-19) pandemic on pediatric oncology care in the Middle East, North Africa, and West Asia region: A report from the Pediatric Oncology East and Mediterranean (POEM) group.

BACKGROUND: Childhood cancer is a highly curable disease when timely diagnosis and appropriate therapy are provided. A negative impact of the coronavirus disease 2019 (COVID-19) pandemic on access to care for children with cancer is likely but has not been evaluated. METHODS: A 34-item survey focusing on barriers to pediatric oncology management during the COVID-19 pandemic was distributed to heads of pediatric oncology units within the Pediatric Oncology East and Mediterranean (POEM) collaborative group, from the Middle East, North Africa, and West Asia. Responses were collected on April 11 through 22, 2020. Corresponding rates of proven COVID-19 cases and deaths were retrieved from the World Health Organization database. RESULTS: In total, 34 centers from 19 countries participated. Almost all centers applied guidelines to optimize resource utilization and safety, including delaying off-treatment visits, rotating and reducing staff, and implementing social distancing, hand hygiene measures, and personal protective equipment use. Essential treatments, including chemotherapy, surgery, and radiation therapy, were delayed in 29% to 44% of centers, and 24% of centers restricted acceptance of new patients. Clinical care delivery was reported as negatively affected in 28% of centers. Greater than 70% of centers reported shortages in blood products, and 47% to 62% reported interruptions in surgery and radiation as well as medication shortages. However, bed availability was affected in <30% of centers, reflecting the low rates of COVID-19 hospitalizations in the corresponding countries at the time of the survey. CONCLUSIONS: Mechanisms to approach childhood cancer treatment delivery during crises need to be re-evaluated, because treatment interruptions and delays are expected to affect patient outcomes in this otherwise largely curable disease.

Preoperative transfusion versus no transfusion policy in sickle cell disease patients: a randomized trial.

BACKGROUND: Many children with sickle cell disease (SCD) indicated for adenotonsillectomy receive pre-operative transfusion therapy, either simple or exchange transfusion, in order to reduce surgical and sickle cell disease-related complications. SUBJECTS AND METHODS: This is a prospective randomized controlled clinical trial aiming to compare between preoperative simple transfusion and no transfusion in pediatric patients with sickle SCD admitted in Sultan Qaboos University Hospital, Muscat, Oman for adenotonsillectomy during the period from January 2014 through June 2018. They were randomly assigned into two arms (simple transfusion and no transfusion). RESULTS: Postoperative SCD-related complications have been encountered in 6 out of 138 patients (4.3%). There was no statistically significant difference between the two studied groups as regards the development of surgical or SCD-related complications (p = 0.6 and 0.8 respectively). The length of postoperative hospital stay was comparable in the two groups. (p = 0.607). SCD-related complications occurred exclusively in cases with homozygous sickle anemia (4 out of 81 = 4.9%). CONCLUSION: Sickle cell disease patients with a hemoglobin level above 7.5 g/dL do not need PRBCs transfusion prior to adenotonsillectomy. This approach did not increase the risk of postoperative surgical or SCD-related complications.

Pulmonary Artery Pseudoaneurysm in a Child With ß-Thalassemia Major.

Pulmonary artery aneurysms and pseudoaneurysms are rare vascular anomalies in children that can lead to massive hemoptysis resulting in severe morbidity and even mortality. High level of clinical suspicion, timely diagnosis, and prompt management are important for a better outcome. Here, we report a case of a 14-year-old adolescent with ß-thalassemia major who presented with life-threatening hemoptysis due to pulmonary artery pseudoaneurysm and was successfully treated with coil embolization.