A Multicenter ICET-A Survey on Adherence to Annual Oral Glucose Tolerance Test (OGTT) Screening in Transfusion-Dependent Thalassemia (TDT) Patients - The Expert Clinicians' Opinion on Factors Influencing the Adherence and on Alternative Strategies for Adherence Optimization.

Background: Current guidelines for screening glucose dysregulation (GD) in patients with transfusion-dependent thalassemia (TDT) recommend an annual 2-hour oral glucose tolerance test (OGTT) starting at the age of 10 years.

Objective: Assessment of adherence to OGTT screening in patients with TDT.

Methods: A questionnaire was distributed to 18 Thalassemia Centers in 10 different countries, targeting factors influencing adherence to annual OGTT screening in specialized multidisciplinary pediatric and adult TDT units and identifying strategies to improve adherence to OGTT in TDT patients.

Antifungal Prophylaxis Utilization and the Associated Clinical Outcomes Among Pediatric Patients with Hematological Malignancies or Undergoing Hematopoietic Stem Cell Transplantation.

Invasive fungal infections (IFIs) are a prevalent complication of intensive chemotherapy and hematopoietic stem cell transplantation (HSCT) in the pediatric population and are associated with high morbidity and mortality. We aimed to identify the utilization of antifungal prophylaxis prescriptions and the associated clinical outcomes. A retrospective study included children (≤18 years old) diagnosed with hematological malignancies or undergoing HSCT who are at high risk for developing IFI and received systemic antifungal therapy between January 2018 and April 2024 at Sultan Qaboos University Hospital (SQUH), Oman.

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 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.

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.

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.

Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Oman.

Objectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most encountered abnormality of red blood cell metabolism worldwide and has a high prevalence in Oman. The objective of the study was to characterize the mutation variants of G6PD deficiency in a cohort of the Omani population with partial and complete enzyme deficiency.

Methods: This prospective study included newborns and children less than one year of age with partial or complete G6PD enzyme deficiency identified on routine screening using a fluorescent spot test from 31 January 2017 to 12 September 2017 in Sultan Qaboos University Hospital.

Thrombopoietin-receptor agonists for adult patients with immune thrombocytopenia: a narrative review and an approach for managing patients fasting intermittently.

Introduction: Thrombopoietin-receptor agonist (TPO-RAs) currently represent the state of art for treating immune thrombocytopenia. Their different molecular structures contribute to the difference in their pharmacodynamics and pharmacokinetics. This narrative review aims to provide an overview of the current TPO-RAs approved for primary immune thrombocytopenia (romiplostim, eltrombopag, avatrombopag) and the effect of intermittent fasting in adult patients receiving TPO-RAs.

Mitochondrial 3-hydroxymethylglutaryl-CoA synthase-2 (HMGCS2) deficiency: a rare case with bicytopenia and coagulopathy.

Mitochondrial 3-hydroxymethylglutaryl-CoA synthase-2 (HMGCS2) is the main enzyme involved in ketogenesis. It is an essential enzyme for the catalysis of β-oxidation-derived-acetyl-CoA and acetoacetyl Co-A to produce β-hydroxy-β-methylglutaryl-CoA (HMG-CoA) and free coenzyme A.The deficiency of this enzyme (3-hydoxy-3-methylglutaryl-CoA synthase) is a very rare metabolic disorder with limited cases described in the literature.

Delayed myelopathy in a child following organic phosphate poisoning.

We report a rare manifestation of delayed organophosphate (OP) poisoning in a male patient in his early childhood. After initially presenting with a cholinergic crisis after OP exposure, the patient returned 3 weeks later with paraparesis and difficulty with bladder control. The results of the MRI of the spine and brain as well as the nerve conduction studies were normal.

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 (clinicaltrials gov. Identifier: NCT02435212), a randomized, open-label, multicenter, phase II study evaluated the compliance, clinical benefits, and safety of deferasirox granules and dispersible tablets (DT) in pediatric patients with iron overload. Iron chelation therapy-naive and iron chelation therapy-pretreated patients aged 2 to <18 years with transfusion- dependent anemias were enrolled.

Effect of Hydroxyurea Therapy on Growth Parameters in Older Children (6-15 Year-Old) with Sickle Cell Disease: Low Dose Versus High Dose.

Growth impairment is a known complication of sickle cell disease (SCD). Few studies explored the potential effects of hydroxyurea (HU) on growth in children with SCD in relation to HU dose and response. This is a prospective study conducted at Sultan Qaboos University Hospital, Oman, and included 91 SCD patients with age below 16 years when started on HU, aiming to explore the potential effect/s of HU on growth parameters of older children with SCD in relation to their clinical improvement and the dose required for this improvement.

Impact of splenectomy on circulating microparticles in patients with sickle cell anemia.

Introduction: Circulating microparticles (MP) are being described as potential biomarkers for disease activity in a variety of conditions including sickle cell anemia (SCA). However, relatively little is known about the influence of spleen status on MP levels in patients with SCA.

Methods: Using a prospective study design we characterize circulating MP in 144 patients with SCA in steady state by assessing their cellular origin and their relationships to spleen status defined by clinical and imaging findings.

Homozygous mild beta-thalassaemia promoter transversion -71 C>T HBB:c.-121 C>T.

Beta-thalassaemia is one of the most common genetic disorders worldwide, which is caused by absent or decreased synthesis of beta-globin chain subunits. Beta-thalassaemias are diverse groups of disease with a wide spectrum of clinical phenotypes. The clinical phenotypes can include asymptomatic forms of beta-thalassaemia minor, intermediate and severe transfusion dependent beta-thalassaemia major.

Applications of Artificial Intelligence in Thrombocytopenia.

Thrombocytopenia is a medical condition where blood platelet count drops very low. This drop in platelet count can be attributed to many causes including medication, sepsis, viral infections, and autoimmunity. Clinically, the presence of thrombocytopenia might be very dangerous and is associated with poor outcomes of patients due to excessive bleeding if not addressed quickly enough.

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.

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.

The prevalence of sickling abnormality in Oman: A review of relevant publications.

Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.  The prevalence of sickle cell trait and disease reaches up to 4.8-6% and 0.

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.