Role of mean platelet volume in diagnosis of neonatal sepsis.

Objective: To assess the role of mean platelet volume in the detection of neonatal sepsis, and to work out its cut-off value.

Methods: The comparative, cross-sectional study was conducted from December 2020 to June 2022 at the Neonatal Department of the Fauji Foundation Hospital, Rawalpindi, Pakistan, and comprised neonates in group A who were confirmed cases of sepsis diagnosed on the basis of blood culture test, and those in control group B who were healthy neonates with respect to sepsis. Blood samples were taken for the assessment of complete blood count, including mean platelet volume, total leucocyte count, neutrophil count, haemoglobin level and blood culture.

Emerging Antimicrobial Resistance in Neonatal Sepsis.

Objective: To determine the frequency and antimicrobial sensitivity pattern of microbial agents causing neonatal sepsis.

Study Design: Descriptive study.

Place And Duration Of Study: Neonatal ICU, Fauji Foundation Hospital, Rawalpindi; Foundation University, Islabambad, from May 2017 to April 2019.

ATP7B Mutation Analysis: Wilson Disease, A Difficult to Diagnose Case.

Wilson's Disease (WD) is a common metabolic disorder predominantly involving liver, brain, and eyes. Pancreatic, renal, psychiatric, and cardiac involvement have also been described. No single investigation can be considered diagnostic of WD; therefore, diagnosis is based upon a series of tests best interpreted using Wilson disease diagnostic index (WDDI).

Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant.

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2) protein. The clinical manifestations include hepatomegaly, conditional hypo/hyperglycemia, rickets, short stature and proximal renal tubular dysfunction. GLUT2 regulates monosaccharide homeostasis through sugar sensing and transmembrane transportation during high/low glucose levels.

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).

Identification of a novel mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis.

Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (β-Gal) encoded by galactose beta 1 (). It is clinically characterized by developmental delay attributed to multifold accumulation of GM1 gangliosides in nerve cells. In this study, we present a case of infantile GM1 gangliosidosis in a consanguineous Pakistani family.

Effectiveness and Safety of Sofosbuvir in Treatment-NäiveChildren with Hepatitis C Infection.

Objective: To determine the effectiveness and safety of Sofosbuvir and Ribavirin combination in treatment-näivechildren with HCV infection.

Study Design: An experimental study.

Place And Duration Of Study: Gastroentrology, Hepatology Department, The Children's Hospital and The Institute of Child Health, Lahore, from January to December 2016.

Spontaneous Perforation Of Bile Duct, Clinical Presentation, Laboratory Work Up, Treatment And Outcome.

Background: Spontaneous perforation of bile duct (SPBD) is a rare and often misdiagnosed entity. Though rare, it is the second most common surgical cause of jaundice in infants, after biliary atresia. This study was planned to determine the clinical presentation, study different diagnostic modalities, treatment and outcome of patients with spontaneous perforation of bile duct.

Detrimental Complications Of Meconium Aspiration Syndrome And Their Impact On Outcome.

Background: Meconium aspiration syndrome (MAS) is respiratory distress in an infant born through meconium stained amniotic fluid (MSAF) whose signs cannot be otherwise explained. MAS is associated with different complications. Many studies have been conducted in developed world to find the outcome associated with MAS but data from developing countries is lacking.

Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.

Background: Non-infectious causes of chronic diarrhoea are important and easily missed. The study was done with the objectives to identify different causes of chronic non-infectious diarrhoea in infants less than 6 months of age.

Methods: All patients less than 6 months of age presenting for the first time to a Paediatric Gastroenterology tertiary care centre with a history of chronic diarrhoea and negative stool cultures were enrolled over a period of 8 months.

Clinical Spectrum Of Solitary Rectal Ulcer In Children Presenting With Per-Rectal Bleed.

Background: Solitary rectal ulcer syndrome (SRUS) is a benign and chronic disorder well known in young adults and less common in children. The objective of this study was to determine the frequency and clinical spectrum of solitary rectal ulcer in children with bleeding per rectum.

Methods: This study was conducted in the Department of Paediatric Gastroenterology Hepatology& Nutrition; The Children's Hospital & The Institute of Child Health, Lahore, from January-December 2015.

Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types.

Objective: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis.

Study Design: Descriptive study.

Place And Duration Of Study: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015.

Diarrheal Versus Non-diarrheal Presentations of Paediatric Celiac Disease.

Objective: To compare the frequencies and clinical features of diarrheal versus non-diarrheal presentation of celiac disease (CD).

Study Design: Cross-sectional study.

Place And Duration Of Study: Paediatric Department, Benazir Bhutto Hospital, Rawalpindi, from January to December 2013.

Accuracy of Anti-Tissue Transglutaminase IgA Antibody in the Diagnosis of Paediatric Celiac Disease.

Objective: To determine the accuracy of anti-tissue transglutaminase IgA (TTG) antibody titer in the diagnosis of celiac disease, taking small intestine histopathology as the gold standard.

Study Design: Cross-sectional analytical study.

Place And Duration Of Study: Department of Paediatrics, Benazir Bhutto Hospital, Rawalpindi, from February to July 2013.

CLINICAL PRESENTATION, AETIOLOGY AND COMPLICATIONS OF PANCREATITIS IN CHILDREN.

Background: Childhood Pancreatitis is an uncommon but serious condition with incidence on the rise. It manifests as acute or chronic form with epigastric pain, vomiting and elevated serum -amylase and lipase. This study was conducted with the aim to determine the clinical presentation, aetiology, and complications of pancreatitis in children.