Gastrointestinal trichobezoar: An experience with 17 cases.

Background: Trichobezoar is an exceedingly rare entity in children and mimics other chronic ailments such as abdominal tuberculosis or malignancy. Delayed diagnosis and management result in various complications. The study was conducted to describe our experience with 17 consecutive cases of gastrointestinal tract (GIT) trichobezoars.

The frequency of pulmonary hypertension in newborn with intrauterine growth restriction.

Intrauterine growth restriction (IUGR) is a clinical definition applied to neonates born with clinical features of malnutrition and in-utero growth retardation irrespective of their birth weight percentile. This study was aimed to determine the frequency of pulmonary hypertension (PH) in neonates with IUGR. In this descriptive cross-sectional study, we followed 96 neonates with IUGR (≤28 days) and 38 neonates without IUGR born in the department of the neonatal intensive care unit children hospital complex Multan, Pakistan.

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.

Monogenic forms of obesity have been identified in ≤10% of severely obese European patients. However, the overall spectrum of deleterious variants (point mutations and structural variants) responsible for childhood severe obesity remains elusive. In this study, we genetically screened 225 severely obese children from consanguineous Pakistani families through a combination of techniques, including an in-house-developed augmented whole-exome sequencing method (CoDE-seq) that enables simultaneous detection of whole-exome copy number variations (CNVs) and point mutations in coding regions.

Role of Methyl Prednisolone in Longitudinal Extensive Transverse Myelitis (LETM) in Children.

Objective: The role of methyl prednisolone in longitudinal extensive transverse myelitis in children is not completely discovered in developing country like Pakistan. So this is the first study which aimed to evaluate the efficacy of methyl prednisolone in longitudinal extensive transverse myelitis in children.

Methods: This is quasi experimental hospital based descriptive prospective study.

Outcome of management of brain abscess in children.

Objective: To find out the outcome of management of brain abscess in children.

Methods: This is prospective observational study conducted in the Department of Paediatric Neurosurgery at Children's Hospital and Institute of Child Health, Multan from July 2014 to June 2017. Children up to the age of 14 years suffering from brain abscess were admitted.

Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.

Background Mucolipidosis II is a rare inherited metabolic disorder characterized by multiple pathologies including coarse facial features, thickened skin, dysostosis multiplex, and skeletal abnormalities. The disorder results due to variants in GNPTAB leading to reduced activity of the enzyme GlcNAc-1-phosphotransferase (GlcNAc-PT). Methods In the present study, a consanguineous Pakistani family was diagnosed with MLII based on clinical and biochemical examination.

14 Years' experience of esophageal replacement surgeries.

Background: Esophageal replacement is a challenge to the therapeutic skills of surgeons and a technically demanding operation in the pediatric age group. Various conduits and routes have been described in the literature, each with their specific advantages and disadvantages. We carried out this retrospective study to share our experience of esophageal replacement.

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.

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.

Background Pompe disease (PD) is an autosomal recessive metabolic myopathy with an average incidence of one in 40,000 live births. It has a variable age of onset and can be diagnosed within the first 3 months. Heart involvement and muscle weakness are its primary manifestations.

Cancer Epidemiology in Lahore, Pakistan - 2010-2015.

Objective: To study the cancer incidence rates in Lahore, which has an estimated annual population count of 10.3 million.

Study Design: Cross-sectional study.

Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing.

Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder characterized by an impaired urinary acidification process in distal nephrons that results in the production of alkaline urine. Loss of function variants in any of the three genes, , , or , which all play a role in normal acidification of urine by kidneys, may lead to dRTA. This study was designed to identify genetic variants underlying dRTA in Pakistani patients using whole exome sequencing, followed by confirmatory Sanger sequencing.

Detection of acute kidney injury with hyperpolarized [ C, N]Urea and multiexponential relaxation modeling.

Purpose: To assess the utility of Laplacian fitting to describe the differences in hyperpolarized [ C, N]urea T relaxation in ischemic and healthy rodent kidneys.

Methods: Six rats with unilateral renal ischemia were investigated. [ C, N]Urea T mapping was undertaken with a radial fast spin echo method, with subsequent postprocessing performed with regularized Laplacian fitting.

Intravenous Dexmedetomidine Has Synergistic Effect on Subarachnoid Block with Hyperbaric Bupivacaine.

Objective To assess the effect of intravenous dexmedetomidine on subarachnoid anesthesia with the help of hyperbaric bupivacaine when administered as a bolus or as an infusion. Materials and methods This randomized control trial was conducted at the Department of Anesthesia, Nishtar Hospital, Multan, Pakistan, from January 2017 to December 2018. Seventy patients were enrolled in the study.

Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

Background: Objectives of the study were to determine the clinical spectrum of presentation and various modalities helpful in the diagnosis of liver glycogenosis short of genetic analysis.

Methods: All patients under 18 years of age presenting to Paediatric Gastroenterology unit of Children's Hospital, Lahore with suspicion of hepatic glycogen storage disease (GSD) were enrolled over a period of 18 months. Demographic profile and various factors under observation were recorded.

Rare presentation of haemobilia and Loeffler's pneumonia in a child by ascaris lumbricoides.

Ascariasis is a soil-sourced, second most common parasitic infection worldwide. Because of its wandering nature, it migrates from the intestine to other organs of the body like the lungs and biliary system. This results in complications such as biliary colic, acute cholecystitis, pyogenic cholangitis, liver abscesses, pancreatitis and loeffler's pneumonia.

Conceptualizing and managing risk in pediatric OCD: Case examples.

It is not uncommon for patients with obsessive-compulsive disorder (OCD) to present with symptoms that suggest possible risk. This can include apparent risk, which reflects the content of obsessional fears, and genuine risk arising as the unintended consequence of compulsive behaviors. In both situations, risk can cause confusion in relation to diagnosis and treatment.

Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias.

Inherited unconjugated hyperbilirubinemias are a group of disorders characterized by increased levels of serum unconjugated bilirubin and arise because of the imbalance between its production and elimination from the body. It includes Crigler-Najjar syndrome and Gilbert syndrome. Crigler-Najjar syndrome type 1 represents the extreme severe end of the spectrum with complete absence of hepatic bilirubin uridine diphosphoglucuronate glucuronosyltransferase (UGT1A1).

Comparison of Weight-for-Height Z-score and Mid-Upper Arm Circumference to Diagnose Moderate and Severe Acute Malnutrition in children aged 6-59 months.

Objective: To compare weight for height (WHZ) and mid upper arm circumference (MUAC) to diagnose malnutrition in children aged 6-59 months and to determine the association of various risk factors with the nutritional status of the children.

Methods: Descriptive study conducted at the Department of Paediatric Medicine of The Children's Hospital Lahore from May 2017 to April 2018. A total of 257 children 6 to 59 months of age having MUAC of <125mm were included.

Burnout among pediatric residents and junior consultants working at a tertiary care hospital.

Objective: To determine the burnout among postgraduate residents' and junior consultants in a tertiary care hospital.

Methods: This cross-sectional study was conducted among the postgraduate residents (PGR) and junior consultants (JC) working at The Children's Hospital Lahore in 2018. Participants were asked to complete Burnout Inventory questionnaire about burnout on 5 point Likert scale.

Resistance mechanisms and population structure of highly drug resistant Klebsiella in Pakistan during the introduction of the carbapenemase NDM-1.

Klebsiella pneumoniae is a major threat to public health with the emergence of isolates resistant to most, if not all, useful antibiotics. We present an in-depth analysis of 178 extended-spectrum beta-lactamase (ESBL)-producing K. pneumoniae collected from patients resident in a region of Pakistan, during the period 2010-2012, when the now globally-distributed carbapenemase bla-NDM-1 was being acquired by Klebsiella.

Developmental Premorbid Body Mass Index Trajectories of Adolescents With Eating Disorders in a Longitudinal Population Cohort.

Objective: To examine whether childhood body mass index (BMI) trajectories are prospectively associated with later eating disorder (ED) diagnoses.

Method: Using a subsample from the Avon Longitudinal Study of Parents and Children (N = 1,502), random-coefficient growth models were used to compare premorbid BMI trajectories of individuals who later developed anorexia nervosa (n = 243), bulimia nervosa (n = 69), binge-eating disorder (n = 114), and purging disorder (n = 133) and a control group without EDs or ED symptoms (n = 966). BMI was tracked longitudinally from birth to 12.