Optimizing Diagnostic Tools & Outcomes Evaluation for t (9;22)-Positive Leukemias in Pediatric Low Middle-Income Country (LMIC) Patients.

Accurate and timely diagnosis of t(9;22)-positive leukemias is vital to improving survival in pediatric patients. In low-resource settings, where healthcare disparities are exacerbated by limited resources, cost-effective and efficient diagnostic methods are essential for bridging these gaps and ensuring better outcomes. Among the diagnostic tools evaluated among 23 patients sample, RT-PCR demonstrated superior sensitivity (100%) and the shortest turnaround time (7 days), significantly outperforming FISH and karyotyping in both accuracy and timeliness.

Development and testing of a videogame intervention for symptom management among 8-18 years old children with cancer: a study protocol.

Introduction: Evidence shows that cancer treatment-related symptoms could be managed effectively in 8-18 years old children through Digital Health Interventions (DHIs), consequently improving their health-related quality of life (HRQOL). However, limited research is available about digitally mediated educative health interventions for children with cancer from lower-middle income countries like Pakistan. This study aims to develop a videogame intervention for children with cancer and test the clinical efficacy of the videogame concerning HRQOL and cancer treatment-related symptoms.

Clinical Characteristics And Treatment Outcome Of Paediatric Non-Hodgkin's Lymphoma At A Tertiary Care Hospital In Pakistan.

Objectives: To highlight the clinical characteristics of paediatric patients presenting with non-Hodgkin's lymphoma, treatment toxicities, and outcome.

Methods: The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data of all paediatric patients aged 0-18 years diagnosed with non-Hodgkin's lymphoma from 2010 to 2020. Demographic characteristics, presentation, treatment provided, complications, if any, and treatment outcome were recorded.

Karachi Cancer Registry (KCR): Consolidated Data of 5-years 2017-2021.

Objective:  To collect and analyse epidemiologic data of all malignancies by age group and gender for the Karachi population to estimate the cancer incidence of 5-years (2017-2021) and identify major risk factors for setting priorities towards cancer control programs.

Study Design: Observational study. Place and Duration of the Study: Karachi Cancer Registry (KCR) Secretariat, Pakistan Health Research Council (PHRC), JPMC, Karachi, from 2017-2021.

Genetic aberrations involved in relapse of pediatric acute myeloid leukemia: A literature review.

Globally, 15-20% of all children diagnosed with leukemia suffer from acute myeloid leukemia (AML), a rapidly progressive, clinically and biologically heterogeneous disease leading to the impaired differentiation of myeloid blast cells. Although 80% of patients achieve complete remission after induction chemotherapy, many relapse, negatively affecting overall out comes. The mechanisms underlying relapse have not been fully elucidated.

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.

Metachronous translocation renal cell carcinoma in a child with successfully treated medulloblastoma.

Background: The most common primary CNS tumor in children is the medulloblastoma, which generally occurs in the posterior fossa and can spread through the CNS and spinal cord. Although the recurrence of renal cell carcinoma as a secondary tumor to neuroblastoma has been reported with successful anti-neoplastic treatment, the rare occurrence of a child who initially had medulloblastoma and then developed translocation renal cell carcinoma has never been reported before.

Case Presentation: We report the case of a 12-year-old boy who initially presented with complaints of vomiting and headache.

Intracranial tumors in children: a 10-year review from a single tertiary health-care center.

Objective: Brain tumors are the second most common pediatric malignancy and the most common cause of cancer-related mortality and morbidities. Major advances in terms of surgery, radiation, and chemotherapy have led to better outcomes in developed countries. Delayed diagnosis, advanced disease at presentation, late referrals, nosocomial infections, delays to radiotherapy, and poor support services are the major reasons for poorer outcomes in developing countries.

Metachronous renal Ewing sarcoma/primitive neuroectodermal tumour in a survivor of Burkitt lymphoma.

We present a case of a 14-year-old girl who was diagnosed with Burkitt lymphoma in 2014. She was managed with chemotherapy and remained in remission for 3 years. On her surveillance imaging in 2017, a left-sided renal neoplastic mass was incidentally discovered.

Clinical Profile and Short-Term Outcome of Pediatric Hyperleukocytic Acute Leukemia from a Developing Country.

This study was conducted to determine the frequency, clinical profile, and short-term outcome of children with hyperleukocytosis at two pediatric oncology centers in Karachi. Of a total 1,045 patients, 13.97% (n=146) patients had hyperleukocytosis.

Burden of Cardiac Siderosis in a Thalassemia-Major Endemic Population: A Preliminary Report From Pakistan.

Objective: To describe the initial experience and demographics of T2* cardiac magnetic resonance-based myocardial-iron quantification of transfusion-dependent thalassemia-major (TM) patients from Pakistan and the correlation with serum ferritin.

Methods: Eligible TM patients presenting between April 2014 and April 2015 to Aga Khan University Hospital, Pakistan, for T2*CMR were included. The severity of myocardial-iron deposition was defined as follows: normal T2*>20 ms, mild-moderate T2*10 to 20 ms, and severe T2*<10 ms.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics.

Congenital (infantile) fibrosarcoma of the scalp: a case series and review of literature.

Introduction: Congenital infantile fibrosarcoma (CIFS) is a soft tissue sarcoma of infants mainly involving lower extremities usually presenting during the first year of life. A subset of cases occur in the head and neck, but scalp involvement is exceptionally rare.

Patients And Methods: We report clinicopathological features of three cases of CIFS involving the scalp diagnosed between 2011 and 2012.

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.

Background: Perforin, encoded by PRF1, is a pore-forming protein crucial for lymphocyte cytotoxicity. Biallelic PRF1 nonsense mutations invariably result in early-onset hemophagocytic lymphohistiocytosis (HLH), termed familial HLH type 2 (FHL2). In contrast, biallelic PRF1 missense mutations may give rise to later-onset disease and more variable manifestations.

Peripherally Inserted Central Venous Catheters in Pediatric Hematology/Oncology Patients in Tertiary Care Setting: A Developing Country Experience.

Purpose: Peripherally inserted central venous catheters (PICC) have been successfully used to provide central access for chemotherapy and frequent transfusions. The purpose of this study was to assess the feasibility of PICCs and determine PICC-related complications in pediatric hematology/oncology patients in a resource-poor setting.

Methods: All pediatric patients (age below 16 y) with hematologic and malignant disorders who underwent PICC line insertion at Aga Khan University Hospital from January 2008 to June 2010 were enrolled in the study.

Clinical features and induction outcome of childhood acute lymphoblastic leukemia in a lower/middle income population: A multi-institutional report from Pakistan.

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer of childhood. Some evidence suggests differences in clinical and cytogenetic characteristics of ALL based on geographic and ethnic variations. However, data on ALL characteristics and early outcome of therapy from low/middle-income countries such as Pakistan are scanty.

Effect of L-type calcium channel blocker (amlodipine) on myocardial iron deposition in patients with thalassaemia with moderate-to-severe myocardial iron deposition: protocol for a randomised, controlled trial.

Introduction: Sideroblastic cardiomyopathy secondary to repeated blood transfusions is a feared complication in thalassaemia. Control of myocardial iron is thus becoming the cornerstone of thalassaemia management. Recent evidence suggests a role for L-type Ca(2+) channels in mediating iron uptake by the heart.

Chromosomal abnormalities in Pakistani children with acute lymphoblastic leukemia.

Background: Cytogenetic abnormalities have important implications in diagnosis and prognosis of acute leukemia and are now considered an important part of the diagnostic workup at presentation. Karyotype, if known at the time of diagnosis, guides physicians to plan appropriate management strategies for their patients.

Aim And Objectives: To determine the cytogenetic profile of acute lymphoblastic leukemia (ALL) in Pakistani children in order to have insights regarding behavior of the disease.

Malignant mediastinal mass in children: a single institutional experience from a developing country.

Objective: To determine the clinical spectrum and management outcomes of paediatric patients with modiastinal mass in a Karachi hospital.

Methods: Medical records of all cases of mediastinal masses in children diagnosed and treated between January 2005 and December 2011 were retrospectively reviewed to evaluate the mode of presentation, histopathological diagnosis, radiologic findings and management outcomes at Aga Khan University Hospital, Karachi, Pakistan. SPSS 19 was used for data analysis.

Ovarian haemorrhage: a rare presentation and diagnostic dilemma in factor XIII deficiency.

Factor XIII (FXIII) deficiency is a rare (autosomal recessive) genetic disorder which is associated with delayed bleeding symptoms that occur hour or days after trauma. Spontaneous rupture of visceral organs due to FXIII deficiency is a rare cause of abdominal pain with grave consequences and can be easily confused with other abdominal pathologies because of normal standard coagulation profile in these patients. We report a 15-year-old girl with spontaneous ovarian haemorrhage and splenic haematoma with FXIII deficiency.