Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.

Background: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD.

Methods: In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries.

Capacity building for pediatric neuro-oncology in Pakistan- a project by my child matters program of Foundation S.

Introduction: Initiated in June 2019, this collaborative effort involved 15 public and private sector hospitals in Pakistan. The primary objective was to enhance the capacity for pediatric neuro-oncology (PNO) care, supported by a My Child Matters/Foundation S grant.

Methods: We aimed to establish and operate Multidisciplinary Tumor Boards (MTBs) on a national scale, covering 76% of the population (185.

Prognostic impact of pre-referral tumor resection in unilateral Wilms tumor: A single-institute experience from a lower middle-income country.

Introduction: The objectives of this study were to evaluate the prognostic impact of pre-referral surgical resection of Wilms tumor (WT) performed at non-oncology centers, and to strategize an improved care plan for this very curable pediatric tumor.

Methods: In this study conducted in a large pediatric cancer center in Pakistan, we retrospectively reviewed the electronic medical records (EMR) of 149 patients with unilateral WT from September 2008 to August 2017. Based on treatment approach, patients were categorized into two groups: (i) pre-referral tumor resection (PTR: n = 75), and (ii) post-neoadjuvant chemo nephrectomy (PCN: n = 74).

Etiology of Acute Infectious Meningitis and Meningoencephalitis in Karachi, Pakistan: Retrospective Observational Study from a Tertiary Care Center.

Meningoencephalitis (ME) is potentially fatal and is caused by a wide array of pathogens. Diagnostic and health-care access gaps prevent accurate estimation of the pathogen-specific burden in low-resource settings. We present pathogen-specific etiologies among patients hospitalized with ME in Karachi, Pakistan.

Tumour lysis syndrome as a rare complication of chemotherapy in paediatric Wilms' Tumour: a case report.

Wilms tumour is the most common renal malignancy in children, with two-thirds of cases diagnosed before five years and 95 percent before 10 years of age. Over the last decade, the five-year survival rate has improved dramatically and now approaches 90 %. Tumour lysis syndrome, commonly seen in association with haematological malignancies, is rarely seen in Wilms tumour.

Mechanistic study of regulation of iron homeostasis by N. sativa seeds and P. ovata husks on high fat/high sucrose diet induced non-alcoholic fatty liver disease.

Background: In recent years, nonalcoholic fatty liver disease (NAFLD) has reached epidemic proportions. Characteristic findings in NAFLD patients are elevated iron stores, as iron plays an important role in the pathophysiology of chronic liver disease. The current study was aimed at investigating the possible protective effects of N.

Survival outcomes of unilateral retinoblastoma based on pathological risk stratification-experience at a tertiary care centre in Pakistan.

Retinoblastoma (RB) is the most common childhood intraocular malignancy. In high-income countries over the past decade, upfront enucleation for unilateral RB is least favoured due to other alternatives that can help in globe preservation, but in low-middle income countries it is still the preferred option due to lack of resources and expertise. The treatment of RB after enucleation is tailored based on the histopathological risk features, as adjuvant chemotherapy with high-risk features reduces the risk of metastasis.

Building the ecosystem for pediatric neuro-oncology care in Pakistan: Results of a 7-year long twinning program between Canada and Pakistan.

Background: Low- and middle-income countries sustain the majority of pediatric cancer burden, with significantly poorer survival rates compared to high-income countries. Collaboration between institutions in low- and middle-income countries and high-income countries is one of the ways to improve cancer outcomes.

Methods: Patient characteristics and effects of a pediatric neuro-oncology twinning program between the Hospital for Sick Children in Toronto, Canada and several hospitals in Karachi, Pakistan over 7 years are described in this article.

Ring-shaped cataract and urinary metabolites among 2,4,6-trinitrotoluene exposed population of Pakistan.

Background: Safety protocols are usually neglected among most of the trinitrotoluene (TNT)-exposed population, therefore, rendering the community prone to various occupational hazards. The current study highlights ring-shaped cataract and urinary metabolites of TNT among TNT-exposed population (n = 26) against a control group (n = 20).

Method: An observational case-control study was carried out in two groups: subjects exposed to TNT in Dir and Bajour Agency, Pakistan, and a control group from the base hospital.

Impact of COVID-19 Pandemic on Treatment of Pediatric Oncology Patients: Report from Resource-limited Setting.

The aim of this study was to determine how the COVID-19 pandemic impacted on the effective management; and the outcome of pediatric oncology patients in Shaukat Khanum Memorial Cancer Hospital & Research Centre, Lahore. Data was retrospectively reviewed from 15 March to 15 June 2020 after the approval of Institutional Review Board Committee. A total of 258 patients on active oncology treatment between the study period were included.

Polycomb Requires for Maintaining Gene Silencing in .

In metazoans, heritable states of cell type-specific gene expression patterns linked with specialization of various cell types constitute transcriptional cellular memory. Evolutionarily conserved Polycomb group (PcG) and trithorax group (trxG) proteins contribute to the transcriptional cellular memory by maintaining heritable patterns of repressed and active expression states, respectively. Although chromatin structure and modifications appear to play a fundamental role in maintenance of repression by PcG, the precise targeting mechanism and the specificity factors that bind PcG complexes to defined regions in chromosomes remain elusive.

Acute Morbidity and Mortality Analysis of COVID-19 in Children Receiving Cancer Treatment.

The aim of this study was to determine overall morbidity and mortality of COVID-19 infection in children on cancer treatment. It was an observational study, carried at Shaukat Khanum Cancer Hospital from 1st April 2020 to 31st July 2020. A total of 165 children on active cancer treatment were tested for COVID-19 with PCR; out of these, 17 were detected positive.

Outcome of Postchemotherapy Residual Disease in Extracranial Germ Cell Tumor in Children: Experience of a Tertiary Care Center.

Objectives: The aim was to review outcome with residual disease at the end of first line chemotherapy in patients with extracranial germ cell tumor (GCT) in our resource limited setting.

Methods: A retrospective analysis of 196 patients with GCT recruited at Shaukat Khanum Memorial Cancer Hospital (SKMCH) from January 2008 to December 2016. Data fields included site, histopathology, stage, risk groups, baseline alpha fetoprotein, beta human chorionic gonadotropin levels, residuum after primary treatment, completeness of surgical excision and outcomes.

Discrepancy between PCR based SARS-CoV-2 tests suggests the need to re-evaluate diagnostic assays.

Objective: We investigated the discrepancy between clinical and PCR-based diagnosis of COVID-19. We compared results of ten patients with mild to severe COVID-19. Respiratory samples from all cases were tested on the Roche SARS-CoV-2 (Cobas) assay, Filmarray RP2.

Outcome of first relapse of Hodgkin lymphoma: single institution experience.

Objective: To determine outcome of first relapse of Hodgkin lymphoma with standard dose chemotherapy, and to identify the prognostic factors predicting survival outcome in paediatric patients.

Methods: The retrospective study was conducted at Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan, and comprised data of Hodgkin lymphoma patients who relapsed at least 3 months after the completion of initial treatment from January 2001 to December 2010. Probabilities of overall survival, event-free survival and cumulative incidence were calculated.

Clinical Characteristics and Treatment Outcome of Paediatric Rhabdomyosarcoma; A Retrospective Review.

Introduction: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. This paper aimed to assess the stage, site and treatment outcome among RMS patients.

Materials And Methods: A retrospective chart review was completed from January 2011 to December 2017 of patients that presented to the Department of Paediatric Oncology, Shaukat Khanum Memorial Cancer Hospital, Lahore, Pakistan, for the management of RMS.

Kinome-Wide RNAi Screen Uncovers Role of Ballchen in Maintenance of Gene Activation by Trithorax Group in .

Polycomb group (PcG) and trithorax group (trxG) proteins are evolutionary conserved factors that contribute to cell fate determination and maintenance of cellular identities during development of multicellular organisms. The PcG maintains heritable patterns of gene silencing while trxG acts as anti-silencing factors by conserving activation of cell type specific genes. Genetic and molecular analysis has revealed extensive details about how different PcG and trxG complexes antagonize each other to maintain cell fates, however, the cellular signaling components that contribute to the preservation of gene expression by PcG/trxG remain elusive.

Frequency of Infectious Mortality at the End of Induction Chemotherapy in Acute Lymphoblastic Leukemia and Lymphoma Patients: Findings From a Tertiary Care Cancer Center.

Background and objective In low- and low-to-middle-income countries (LMICs), the incidence of treatment-related mortality (TRM) in patients with acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LBL) is up to 52%. This study aimed to determine the mortality rate at the end of the induction phase of the treatment among patients with ALL and lymphoma at a tertiary care cancer center. Methods This retrospective study analyzed outcomes after induction chemotherapy in pediatric patients with acute leukemia and lymphoma at a tertiary care cancer center from January 2015 to December 2016.

'Breakpoint broth microdilution plate' for susceptibility testing of Gram negative bacilli against colistin sulfate.

Unlabelled: The MIC method applicable to Gram negative bacilli including spp. is broth microdilution (BMD). Cost and/or availability issues limit the use of commercial MIC panels in resource limited settings.

Spectrum of Fungal Pathogens in Burn Wound Specimens: Data From a Tertiary Care Hospital Laboratory in Pakistan.

Burn patients are at great risk of developing fungal wound infections. Fungi are frequently cultured from burn tissue specimens alone or in combination with bacteria. However, the spectrum of fungi in burn patients from Pakistan has not been reported previously.

Efforts to improve diagnosis of bacteraemia by reducing blood culture contamination in an emergency department: strategies and outcome.

Objective: To assess the strategies and outcome for reducing blood culture contamination in order to improve the diagnosis of bacteraemia.

Methods: The interventional study was conducted at a tertiary care hospital in Karachi from January 1, 2013, to December 31, 2016. The blood culture contamination data related to the first year of the study was taken as the baseline pre-intervention data.

Late Morbidity among Survivors of Childhood Cancers; Experience at Tertiary Care Cancer Hospital.

Background: Long-term survivors of childhood malignancies are at increased risk of experiencing treatment-related morbidities. Survival into late adulthood in these children provides ample time for the acquisition of long-term sequelae. This study aimed to determine the late adverse effects among long-term survivors of childhood cancer from a low-income country perspective.

Silver nanoparticles and silver salt (AgNO) elicits morphogenic and biochemical variations in callus cultures of sugarcane.

The research work was arranged to check the role of AgNPs and silver ions on callus cells of sugarcane ( spp. cv CP-77,400). AgNPs were synthesized chemically and characterized by UV-Vis spectra, XRD and SEM.

Genome-wide RNAi screen in Drosophila reveals Enok as a novel trithorax group regulator.

Background: Polycomb group (PcG) and trithorax group (trxG) proteins contribute to the specialization of cell types by maintaining differential gene expression patterns. Initially discovered as positive regulators of HOX genes in forward genetic screens, trxG counteracts PcG-mediated repression of cell type-specific genes. Despite decades of extensive analysis, molecular understanding of trxG action and regulation are still punctuated by many unknowns.