Cystic fibrosis in Pakistan: population harbouring rare variants non-responsive to CFTR modulators and the dilemma of poor health facilities.

Background: Pathogenic mutations in the CFTR gene disrupt the normal function of the chloride ion channel CFTR protein, resulting in Cystic Fibrosis (C.F.).

Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms.

Cystic fibrosis (CF) is a genetic monogenic disorder inherited in an autosomal recessive manner, marked by persistent airway infections in the endobronchial region. This condition leads to the gradual development of bronchiectasis and, ultimately, respiratory failure, emerging as the primary cause of mortality in individuals diagnosed with CF. Diagnosis is done depending on the patient's symptoms and lung radiological findings like chest X-rays and CTs.

Single Nucleotide Polymorphisms Of Transforming Growth Factor-Β1 Gene As Potential Asthma Susceptible Variants In Punjabi Population Of Pakistan.

Background: Candidate gene approach based on case-control model is a valuable strategy to determined disease related genetic variants. Two single nucleotide polymorphisms rs1800469 and rs2241715 in TGF β1gene have been reported to affect the asthmatic status in different populations. The main focus of this research was to find any relationship between these SNPs and asthma in Pakistani population.

Association of Blood Groups with the Severity and Outcome of COVID-19 Infection in Children.

The objective of this study was to find out the association of ABO blood groups with the severity and outcome of corona virus disease 2019 (COVID-19) in children. It included all laboratory-confirmed cases of COVID-19 and post-COVID multisystem inflammatory syndrome in children (MIS-C)/ Kawasaki disease (KD) like illness, admitted from March to September, 2020 to The Children's Hospital, Lahore. Out of 66 children, 45 (68.

Appraisal of anti-mycobacterial potential against MDR-MTB in pediatric patients, cytotoxicity and mutagenicity of Aloe vera and Allium sativum.

The purpose of the studies was to evaluate an in-vitro anti-mycobacterial activity of Aloe vera and Allium sativum against MDR-MTB, their cytotoxicity and mutagenicity. Four extracts of Aloe vera and Allium sativum were prepared by Soxhlet apparatus and their minimum inhibitory concentrations (MIC's) were determined by BACTEC MGIT960 system against multi drug resistant Mycobacterium tuberculosis (MDR-MTB) isolates, collected from pediatric patients. Fractions of Aloe vera and Allium sativum extracts were separated using glass column chromatography, followed by evaluation of cytotoxicity and mutagenicity by tetrazolium salt (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay and Ames test, respectively.

Is leukopenia and lymphopenia a characteristic feature of COVID-19 in children?

Objectives: To analyze whether leucopenia and lymphopenia a characteristic feature of children with COVID-19 and to find out its association with the disease severity.

Methods: This was a descriptive cross-sectional study conducted at The Children's Hospital Lahore from March 2020 to October 2020. All confirmed cases of COVID-19 infection and post-COVID MIS-C/Kawasaki Disease diagnosed on the basis of RT-PCR and Antibody test respectively were included.

Association of Blood Groups with the Severity and Outcome of COVID-19 Infection in Children.

The objective of this study was to find out the association of ABO blood groups with the severity and outcome of corona virus disease 2019 (COVID-19) in children. It included all laboratory-confirmed cases of COVID-19 and post-COVID multisystem inflammatory syndrome in children (MIS-C)/ Kawasaki disease (KD) like illness, admitted from March to September, 2020 to The Children's Hospital, Lahore. Out of 66 children, 45 (68.

Perspective of health professionals on hand hygiene in a tertiary care center in Pakistan.

Objective: To determine the awareness of postgraduate residents and nurses working in a tertiary care hospital about hand hygiene.

Methods: The cross-sectional study was conducted in October 2018 at The Children's Hospital and the Institute of Child Health, Lahore, Pakistan, and comprised postgraduate residents and nurses. Data was collected using a 31-item self-administered inventory.

Major histocompatibility complex class II polymorphic variants are associated with asthma predisposition in the Punjabi population of Lahore, Pakistan.

Introduction: Various genome wide association studies have manifested that Major Histocompatibility Complex (MHC) region on chromosome 6p21 houses many potential candidate genes for asthma.

Objective: This Case-Control association study was planned to determine the association of 10 Single Nucleotide Polymorphisms (SNPs), residing within and around MHC genes' region on chromosome 6p21, with Asthma in Punjabi population of Lahore, Pakistan.

Methods: A total of 161 subjects, 61 physician-diagnosed asthma patients and 100 age-matched healthy controls, were recruited from Lahore, a city in Punjab.

Evaluation of ADAM33 gene's single nucleotide polymorphism variants against asthma and the unique pattern of inheritance in Northern and Central Punjab, Pakistan.

Objectives: To investigate the relationship of 3 single nucleotide polymorphism (SNP) variants of ADAM33 with asthma susceptibility in patients from Northern and Central Punjab, Punjab, Pakistan. Methods: In this case-control study, healthy and asthmatic participants were recruited between 2015 and 2017. The SNPs of ADAM33 gene, rs2280089, rs2280090, and rs2280091 were analyzed in 296 asthma patients and 343 healthy controls, as well as linkage disequilibrium and haplotype analysis.

Shprintzen-Goldberg Syndrome: A Rare Disorder.

The Shprintzen-Goldberg syndrome (SGS) or velo-cardio-facial syndrome (VCFS) is an extremely rare disorder of connective tissue with a characteristic facial dysmorphism, marfanoid features, craniosynostosis, dolichocephaly, cardiovascular anomalies and mild to moderate mental retardation. It may be a de novo gene mutation or inherited as an autosomal dominant disorder having SKI gene and Fibrillin-1 gene (FBN1) mutations, located on chromosome 15q21.1.

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.

Spectrum of complications in childhood Enteric Fever as reported in a Tertiary Care Hospital.

Objective: To find out frequency of various complications in children admitted with Enteric Fever at a tertiary care hospital.

Methods: This was prospective cross sectional study, carried out in the Pediatric Medicine department of The Children's Hospital Lahore from Dec 2014 to March 2017. Children of both genders with age range of 6 months to 16 years diagnosed as enteric fever on the basis of clinical features and positive Typhidot, or blood culture were included in the study.

Adherence to asthma treatment and their association with asthma control in children.

Objective: To assess the degree of medication adherence among asthma patients and association of asthma control level with the degree of adherence.

Methods: This descriptive cross-sectional study was conducted at The Children's Hospital and The Institute of Child Health, Lahore, Pakistan, from January to December 2015, and comprised persistent asthma patients. Medication adherence in these paediatric subjects was assessed by using Morisky medication adherence assessment questionnaire.

A Rare Case of Kikuchi-Fujimoto Disease Associated with Systemic Lupus Erythematosus.

Kikuchi-Fujimoto Disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a self-remitting, immune-mediated rare disorder having unique histopathological characteristics which is commonly seen in young Asian females, but can occur in all ethnicities. There is a strong association between KFD and Systemic Lupus Erythematosus (SLE). We present a case of a young Pakistani boy who presented with cervical lymphadenopathy, fever, blackish discoloration of finger tips, and Raynaud's phenomenon.

Impact of maternal education, employment and family size on nutritional status of children.

Objective: To determine the impact of maternal education, employment, and family size on nutritional status of children.

Methods: It was case control study conducted at OPD of children Hospital Lahore, from September 2015 to April 2017. Total 340 children (170 cases and 170 controls) with age range of six months to five years along with their mothers were included.

Patient safety awareness among postgraduate students and nurses in a tertiary health care facility.

Objective: To determine the knowledge of patient safety among postgraduate residents (PGR) and nurses in a tertiary care hospital.

Methods: This casual comparative study was conducted among the postgraduate residents and nurses working at The Children's Hospital Lahore in the month of July, August 2017. Both PGR and nurses were asked to complete APSQ-IV questionnaire about patient safety on 7 point Likert scale.

rs12603332 is associated with male asthma patients specifically in urban areas of Lahore, Pakistan.

Objective: rs12603332, an important regulatory site variant, is known to alter the regulatory motif E2A that is involved in the maturation of B-lymphocytes. The study was designed to check whether different environmental exposures alter its risk allele association with asthma or not.

Methods: 200 Physician-diagnosed asthma patients and 108 healthy individuals were enrolled from hospitals of Lahore.

Genetic variants of ADAM33 are associated with asthma susceptibility in the Punjabi population of Pakistan.

Objective: A disintegrin and metalloproteinase 33 (ADAM33) gene has been considered as an asthma susceptibility gene due to its possible role in airway remodeling, abnormal cell proliferation, and differentiation. Association of this gene with asthma has been reported in several genetic studies on various populations. The current study aims to evaluate the association of ADAM33 gene polymorphisms with the risk of asthma in the Punjabi population of Pakistan.

Sequence variants on 17q21 are associated with the susceptibility of asthma in the population of Lahore, Pakistan.

Objective: Single nucleotide polymorphisms (SNPs) on 17q21 are known to be associated with asthma disease in multiple populations. This study was designed to know whether this region is associated with asthma in Lahore region population or not.

Methods: A total of 200 asthma patients and 100 healthy controls were enrolled from different hospitals of Lahore, Pakistan.