A NOVEL DE NOVO LIKELY PATHOGENIC VARIANT OF WFS-1 GENE IN A PAKISTANI CHILD WITH NON-CLASSIC WFS-1 SPECTRUM DISORDER.

Abstract: Wolfram syndrome is a progressive neurodegenerative disorder caused by an alteration in the WFS-1 gene, located on chromosome 4p16.1 and is characterized by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). WFS-1 gene encodes for a transmembrane protein termed Wolframin found in the membrane of the endoplasmic reticulum.

Seasonal Trends with the Comparison of Venous and Capillary Blood for Diagnosis of Malaria among Children in Karachi, Pakistan.

Background: More than 250 million people are infected by malaria parasites annually while around one million children less than 5 years of age die every year due to malaria. We aimed to assess the seasonal trends and usefulness of capillary and venous blood for rapid diagnosis of malaria.

Methods: This cross-sectional study of 18 months duration was conducted at the National Institute of Child Health (NICH), Karachi.

A Rare Skeletal Dysplasia-Close Mimicker Of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia.

Progressive pseudorheumatoid dysplasia or spondyloepiphyseal dysplasia tarda is caused by a mutation in Wnt1 inducible signalling pathway protein 3 (WISP3) and passes in an autosomal recessive manner. Prevalence underestimated as one per million and most of the cases remain undiagnosed or treated as Juvenile Idiopathic Arthritis (JIA). Differentiation between JIA and PPRD is really challenging however, this case is genetically confirmed from our country.

Safety and Efficacy of Zoledronic Acid in children with Osteogenesis Imperfecta.

Objective: To evaluate the efficacy and safety of zoledronic acid in children with osteogenesis imperfecta (OI).

Study Design: Descriptive Study.

Place And Duration Of Study: National Institute of Child Health, Department of Endocrine and Diabetes, Karachi, Pakistan, from January 2011 to December 2020.

A quasi experimental study to compare thermo-regulator blanket with conventional method (incubator) for temperature regulations in preterm, low birth weight neonates landing at emergency department of a tertiary care paediatric facility.

Objective: To compare incubator and thermal blanket for thermoregulation in preterm and low birth weight neonates.

Methods: The pilot study was conducted from January to March 2018 at the emergency department of the National Institute of Child Health, Karachi, and comprised preterm and low birth weight neonates without any co-morbidity who were randomised to control and interventional groups. Data was collected using a proforma about demographics, weight, gestational age and brief clinical history.

Comparing Finger-stick Βeta-hydroxybutyrate with Dipstick Urine Tests in the Detection of Ketone Bodies in the Diagnosis of Children with Diabetic Ketoacidosis.

Objective: To compare the finger-stick β-hydroxybutyrate (β-OHB) method accuracy with dipstick urine test for the detection of ketone bodies to diagnose diabetic ketoacidosis in children.

Study Design: Cross-sectional study.

Place And Duration Of Study: Department of Pediatrics, National Institute of Child Health, Karachi, from March to August 2021.

Correlation Between the Ratio of Oxygen Saturation to Fraction of Inspired Oxygen and the Ratio of Partial Pressure of Oxygen to Fraction of Inspired Oxygen in Detection and Risk Stratification of Pediatric Acute Respiratory Distress Syndrome.

Objective: To measure the correlation between the ratio of oxygen saturation to fraction of inspired oxygen [SpO/FiO (SF)] and the ratio of partial pressure of oxygen to fraction of inspired oxygen [PaO/FiO (PF)] among children diagnosed with acute respiratory distress syndrome (ARDS).

Methodology:  A cross-sectional study was conducted at the pediatric intensive care unit (PICU), National Institute of Child Health (NICH), Karachi, a tertiary care government hospital, from November 2020 to July 2021. One hundred twenty children (of either gender) having the age range of 2 months to 16 years, admitted to PICU with acute onset of respiratory distress, were included in the study.

Minimally invasive management versus open surgery in the treatment of penetrating bladder injuries: a retrospective cohort study.

Background: While blunt extra-peritoneal bladder injury is typically treated non-operatively or with minimally invasive management, the treatment for penetrating bladder injury is generally open surgery. We identify a group of patients with penetrating bladder injury who were treated with minimally invasive management and compare the results with those who underwent traditional open surgical treatment.

Methods: This retrospective cohort study analyzes penetrating bladder injuries from a single trauma center from 2012 through 2019, and from the National Trauma Data Bank for 2016 and 2017.

Robotic surgery for cT2 kidney cancer: analysis of the National Cancer Database.

Robotic surgery for renal cell carcinoma (RCC) is increasingly adopted for cT1 disease, but its utilization for cT2 disease remains unexplored. We aimed to characterize the trend in robotic approach for cT2 RCC. The National Cancer Database was queried for patients who were diagnosed with cT2N0M0 RCC from 2010 to 2016 and underwent subsequent radical (RN) or partial (PN) nephrectomy.

Adrenal-Renal Fusion with Adrenal Cortical Adenoma and Ectopic Adrenal Tissue, Presenting as Suspected Renal Mass: A Case Report.

Adrenal-renal fusion with adrenal cortical adenoma is a rare anomaly with only a few cases described in the literature. Imaging-based identification of this anomaly remains a diagnostic challenge, making it difficult to differentiate upper pole renal malignancy from adrenal cortical adenoma. We describe a case of a 62-year-old woman with an upper pole cystic renal mass on imaging, who underwent robotic partial nephrectomy.

Stage Migration for Upper Tract Urothelial Cell Carcinoma.

Introduction: Upper tract urothelial carcinomas (UTUCs) account for 5% to 10% of urothelial cancers. The phenomenon of stage migration in tumors has been evident with increased use and higher resolution of cross-sectional imaging. Using the National Cancer Database, we analyzed trends in stage at presentation and overall survival for UTUCs.

Trends in treatment of cT1 penile cancer: Analysis of the National Cancer Database.

Objective: To characterize the treatment trends and outcomes in clinical stage T1 penile cancer using the National Cancer Database (NCDB).

Methods: The National Cancer Database was queried for all men with cT1 penile cancer from 2004 to 2015. Patients were categorized as cT1a or cT1b.

Chemotherapy increases survival and downstaging of upper tract urothelial cancer.

Introduction: To evaluate the overall survival and pathologic downstaging effect of neoadjuvant chemotherapy for upper tract urothelial cell carcinoma.

Materials And Methods: The National Cancer Database (NCDB) was queried for patients with stage II-IV upper tract urothelial cell carcinoma undergoing definitive surgical resection (nephroureterectomy) from 2004-2015. Patients with metastatic disease were excluded.

Lymph node density for stratification of survival outcomes with node positive upper tract urothelial carcinoma.

Introduction: The use of lymph node density (LND) as a predictor of survival outcomes has been studied with urothelial carcinoma of the bladder. Similar results can be postulated to upper tract urothelial carcinoma (UTUC). This study aims to determine the overall survival of patients with lymph node positive UTUC based on LND, utilizing the National Cancer Database (NCDB).

Charlson comorbidity score is associated with readmission to the index operative hospital after radical cystectomy and correlates with 90-day mortality risk.

Purpose: Our objective was to determine perioperative variables associated with 30-day readmission to the index operative hospital after radical cystectomy for bladder cancer and subsequent survival outcomes.

Methods: Retrospective cohort study utilizing the United States National Cancer Database from 2004-2015. All clinical stages undergoing radical cystectomy were analyzed.

Analysis of Inpatient Palliative Care Consultations for Patients With Metastatic Prostate Cancer.

Objective: To characterize the use of palliative care for patients with metastatic prostate cancer and identify its associations with costs, hospital course, and discharge.

Materials And Methods: Using the National Inpatient Sample database from 2012 to 2013, we identified 99 070 patients with metastatic prostate cancer and analyzed the data from their hospital admissions using descriptive statistics, χ analysis, and regression modeling.

Results: Palliative care services were consulted in 10.

National Trends in the Utilization of Androgen Deprivation Therapy for Very Low Risk Prostate Cancer.

Objective: To analyze national trends using the National Cancer Database (NCDB) in use of androgen deprivation therapy (ADT), outside of standard of care, in patients with very low risk prostate cancer.

Methods: We identified 52,797 men in the NCDB from 2010 to 2015 diagnosed with very low risk prostate cancer as defined (cT1cM0, PSA <10, Gleason ≤6, <3 biopsy cores positive). We evaluated the treatment trends and the proportion of men treated with ADT based on race, income, insurance status, treatment facility volume, and Charlson comorbidity.

Squamous cell carcinoma of the bladder: poor response to neoadjuvant chemotherapy.

Background: Squamous cell carcinoma (SCC) of the bladder is a rare, aggressive malignancy. Unlike urothelial cell carcinoma, SCC is resistant to chemotherapy and guidelines recommend radical cystectomy (RC) without neoadjuvant chemotherapy (NAC). We aimed to evaluate the current management and survival of patients with invasive SCC treated with or without NAC.

Effectiveness of 10-valent pneumococcal conjugate vaccine against vaccine-type invasive pneumococcal disease in Pakistan.

Objective: To assess the effectiveness of 10-valent pneumococcal conjugate vaccine (PCV10) against invasive pneumococcal disease (IPD) due to vaccine serotypes of Streptococcus pneumoniae post introduction of the vaccine into the routine immunization program in Pakistan.

Methods: A matched case-control study was conducted at 16 hospitals in Sindh Province, Pakistan. Children aged <5years (eligible to receive PCV10) who presented with radiographically confirmed pneumonia and/or meningitis were enrolled as cases.

Trends in the treatment of clinical T1 renal cell carcinoma for octogenarians: Analysis of the National Cancer Database.

Objective: Treatment of renal cell carcinoma has evolved with emphasis on nephron preservation for small renal masses. Our objective was to evaluate the proportions of treatment types for octogenarians with clinical stage 1 renal cell carcinoma.

Materials And Methods: The National Cancer Database was analyzed from 2004 to 2015.

Trajectory of cause of death among brought dead neonates in tertiary care public facilities of Pakistan: A multicenter study.

Background: Considering the fact that Pakistan is amongst the countries with very high neonatal mortality rates, we conducted a research study to determine the possible causes and characteristics of neonates presenting dead to the emergency department of tertiary public health care facilities of Pakistan using verbal autopsies.

Methods: A descriptive case series study was conducted in emergency department/pediatrics ward/neonatal ward/nursery unit of ten tertiary care public health facilities, situated in seven major cities of Pakistan from November, 2011 to June, 2013. Precoded verbal autopsy proforma was used to collect information regarding cause of death, family narratives and other associated risks accountable for pathway to mortality.

Simulation-based training in robot-assisted surgery: current evidence of value and potential trends for the future.

Robot-assisted surgery has changed the landscape of surgery. Implementation of robotics into most surgical specialties has left many educators challenged to develop the tools necessary to train and credential surgeons. Advances in robot-assisted surgery have led to the development of simulators and tools to assess skills that transfer to surgical practice.

Long-term oncologic outcomes following robot-assisted radical cystectomy: results from the International Robotic Cystectomy Consortium.

Background: Long-term oncologic data on patients undergoing robot-assisted radical cystectomy (RARC) are limited and based largely on single-institution series.

Objective: Report survival outcomes of patients who underwent RARC ≥5 yr ago.

Design, Setting, And Participants: Retrospective review of the prospectively populated International Robotic Cystectomy Consortium multi-institutional database identified 743 patients with RARC performed ≥5 yr ago.

A cross sectional study on juvenile idiopathic arthritis in paediatric population.

Objective: To determine the frequency of common subtypes of juvenile idiopathic arthritis among paediatric population.

Methods: The cross-sectional study was conducted at the National Institute of Child Health, Karachi, from January to June, 2010, and comprised children below 16 years of age with arthritis in one or more joints for at least 6 weeks. Physical examination was done and detailed history was recorded.