Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

Childhood Transverse Myelitis with Atypical Fever Presentation: A Case Report.

Transverse myelitis (TM) is a rare inflammatory spinal cord disorder, particularly uncommon in children. It is characterized by symptoms such as motor weakness, sensory disturbances, and autonomic dysfunction. This report describes a 10-year-old male presenting with bilateral lower limb weakness, urinary and fecal incontinence, and high-grade fever.

Assessing Disparities about Overweight and Obesity in Pakistani Youth Using Local and International Standards for Body Mass Index.

Obesity is currently considered a public health problem in both developed and developing countries. Gender- and age-specific body mass index (BMI) growth standards or references are particularly effective in monitoring the global obesity pandemic. This study aimed to report disparities in age-, gender- and ethnic-specific statistical estimates of overweight and obesity for 2-18 years aged Pakistani children and adolescents using the World Health Organization (WHO), the Center for Disease Control (CDC) 2000 references, the International Obesity Task Force (IOTF) and Pakistani references for BMI.

Exploring relationship of poor sleeping habits with prenatal stress among pregnant women in Pakistan: a cross-sectional study.

Objective: Pregnancy is a complex phenomenon accompanied by biological, physiological and psychosocial changes for a mother. It is also regarded as a stressful life event where a woman's role, identity and interpersonal relationships are restructured. The present study from Pakistan explores the association of sleep quality and poor sleeping habits with prenatal stress using Pittsburgh Sleep quality Index.

Superficial CD34-Positive Fibroblastic Tumor: A Case Series and a Review of Literature.

Superficial CD34-positive fibroblastic tumor (SCD34PFBT) is a recently recognized neoplasm of mesenchymal origin. Only a few cases have been reported in the literature so far. Microscopically, it consists of a dermal spindle cell neoplasm, with low mitotic activity, arranged in a fascicular pattern.

Homozygous Mutations in and Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.

Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease of peripheral nervous system diseases in which more than 100 genes and their mutations are associated. Two consanguineous families Dera Ghazi Khan (PAK-CMT1-DG KHAN) and Layyah (PAK-CMT2-LAYYAH) with multiple CMT-affected subjects were enrolled from Punjab province in Pakistan. Basic epidemiological data were collected for the subjects.

Cancer in Faisalabad and Nankana Sahib, Pakistan: 2017-2019; An Observational Study.

Introduction: The Punjab Cancer Registry's catchment area includes the districts of Faisalabad and Nankana Sahib. It is an observational and descriptive study that covers the 3 years from 2017 to 2019, evaluating the distribution of cancer in these two districts.

Material And Methods: Data on incident cancer cases diagnosed between 2017 and 2019 among residents of Faisalabad and Nankana Sahib in Pakistan, reported by the participating centres of the Registry, were reviewed retrospectively.

The level and distribution of selected organochlorine pesticides in water of River Satluj Pakistan.

The study was aimed to identify different environmental factors (selected organochlorine pesticides) affecting the river water of Satluj. River Sutlej is about 1400 kilometers long and its water is extensively used for irrigation in Punjab, located both in India and Pakistan, which was also a reason of dispute between both countries for its water share. The study area was divided into four zones, Sulemanki Zone, Islam Zone, Mailsi Syphone Zone and Panjnad Zone.

Assessment of the oral health literacy and oral health behaviors among nurses in China: a cross-sectional study.

Purpose: Oral health is important for general health; nurses are expected to possess good oral health awareness and work together for public oral health promotion. The purpose of this study is to investigate oral health literacy (OHL)and oral health behaviors of nurses, and explore the association between oral health literacy with demographic variables and oral health behaviors.

Methods: A cross-sectional study in a tertiary hospital was conducted using a short-form Health Literacy in Dentistry-14 (HeLD-14) and a 16-items oral health behaviors questionnaire.

Presence of selected organochlorine pesticides (OCPs) in sediments and biota of River Satluj, Pakistan: first report.

In the developed countries, the use of OCPs (organochlorine pesticides) has been banned. However, in South Asia several of them are still in use. In Pakistan and India a constant addition of OCPs into the atmosphere has been indicated by various researchers.

Establishing Height-for-Age Z-Score Growth Reference Curves and Stunting Prevalence in Children and Adolescents in Pakistan.

Height-for-age Z-score (HAZ) curves are widely used for detecting children with stunting. The aim of this study was to provide smoothed HAZ growth reference values and their curves for Pakistani children and adolescents aged 2-18 years. The prevalence of stunting in Pakistani children was determined.

Risk factors evaluation of cerebral palsy in Hazara division Khyber Pakhtunkhwa Pakistan: A cross-sectional survey.

Objective: To evaluate the prevalence of risk factors of cerebral palsy in the mothers of children with cerebral palsy.

Methods: The cross-sectional study was conducted in 2018 at the Helping Hand Institute of Rehabilitation Sciences, Mansehra, Pakistan, and comprised mothers of cerebral palsy children aged 1-18 years from the Hazara Division. Data was collected by using a modified form of Surveillance of cerebral palsy in Europe questionnaire regarding prenatal, natal and postal natal risk factors.

Outcome of paediatric lobectomy by thoracotomy - a single centre, six-year experience.

This short report highlights the patient outcome of lung resections for congenital and acquired lung lesions in children who presented to the Liaquat National Hospital, Karachi, from January 2013 to April 2019. Common indications were congenital pulmonary airway malformation (CPAM), congenital lobar emphysema (CLE), and bronchiectasis. Two patients died whereas, 21 were discharged home.

Risk factors and outcomes of neonates with acute kidney injury needing peritoneal dialysis: Results from the prospective TINKER (The Indian PCRRT-ICONIC Neonatal Kidney Educational Registry) study.

Background: Acute kidney injury (AKI) is common in neonates admitted to neonatal intensive care units (NICUs). There is a need to have prospective data on the risk factors and outcomes of acute peritoneal dialysis (PD) in neonates. The use of kidney replacement therapy in this population compared to older populations has been associated with worse outcomes (mortality rates 17-24%) along with a longer stay in the NICU and/or hospital.

Mechanistic Impact of Zinc Deficiency in Human Development.

Zinc (Zn) deficiency in humans is an emerging global health issue affecting approximately two billion people across the globe. The situation prevails due to the intake of Zn deficient grains and vegetables worldwide. Clinical identification of Zn deficiency in humans remains problematic because the symptoms do not appear until impair the vital organs, such as the gastrointestinal track, central nervous system, immune system, skeletal, and nervous system.

Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.

Kleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypotonia, developmental delay, and intellectual disability. It is a rare syndrome; and less than 100 cases with different genetic mutations are reported so far. We report an eight-month baby boy with Kleefstra syndrome type 2 due to a novel de novo pathogenic mutation in the KMT2C (Lysine methyltransferase 2C) gene.

GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.

The GABA receptor is an important epilepsy-associated candidate gene, and has always been a focus in etiology and in the treatment of epilepsy. This study explores the genetic association between GABA receptor gene polymorphisms and epilepsy in a cohort of the Pakistani population. A case-control study was conducted on 150 patients with idiopathic generalized epilepsy (IGE) and 150 controls.

Knowledge, attitude, and practice of clinicians about antimicrobial stewardship and resistance among hospitals of Pakistan: a multicenter cross-sectional study.

Considering that antimicrobial resistance (AMR) is a global challenge, there is a dire need to assess the knowledge, attitude, and practice (KAP) of clinicians in AMR endemic countries. The current multicenter, cross-sectional study aimed at highlighting gaps in antimicrobial (AM) stewardship and AMR among practicing doctors working in public tertiary care teaching hospitals of Lahore, Pakistan. A KAP survey, based on a self-administered questionnaire containing 45 questions, was distributed among 336 clinicians in 6 randomly selected hospitals.

Developing neck circumference growth reference charts for Pakistani children and adolescents using the lambda-mu-sigma and quantile regression method.

Objective: Neck circumference (NC) is currently used as an embryonic marker of obesity and its associated risks. But its use in clinical evaluations and other epidemiological purposes requires sex and age-specific standardised cut-offs which are still scarce for the Pakistani paediatric population. We therefore developed sex and age-specific growth reference charts for NC for Pakistani children and adolescents aged 2-18 years.

Acceptance of COVID-19 Vaccine in Pakistan: A Nationwide Cross-Sectional Study.

Introduction The coronavirus disease 2019 (COVID-19) vaccine is available across various countries worldwide, with public-private partnerships ensuring all individuals are vaccinated through a phased approach. Irrespective of the geographical spread, several myths pertaining to the COVID-19 vaccine have stemmed, ultimately limiting the national administration of vaccines and rollouts. This study assessed the acceptance of the COVID-19 vaccine among the general public in Pakistan.

Assessment of public intention to get vaccination against COVID-19: Evidence from a developing country.

Objectives: Widespread acceptance of the COVID-19 vaccine will be the next important step in fighting the novel coronavirus disease. Though the Pakistani government has successfully implemented robust policies to overcome the COVID-19 pandemic; however, studies assessing public intention to get COVID-19 vaccination (IGCV) are limited. The aim of this study is to deal with this literature gap and has also expanded the conceptual framework of planned behaviour theory.

Dawn of a new era of antibody-drug conjugates and bispecific T-cell engagers for treatment of multiple myeloma: a systematic review of literature.

Multiple myeloma (MM) remains an incurable disease with the majority of patients experiencing disease relapse despite response to initial therapy. Antibody-drug conjugates (ADCs) and bispecific T-cell engagers are innovative immunotherapeutic approaches currently in development for the treatment of MM. This systematic review summarizes the efficacy and safety of ADCs and bispecific T-cell engagers in relapsed refractory (RR) MM patients from 2010 to date.

B cell receptor (BCR) guided mechanotransduction: Critical hypothesis to instruct SARS-CoV-2 specific B cells to trigger proximal signalling and antibody reshaping.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which causes COVID-19, has spread around the globe with remarkable consequences for the health of millions of people. Despite the approval of mRNA vaccines to prevent the spread of infection, long-term immunity must still be monitored. Targeting and modifying virus receptor binding regions to activate B cell receptors (BCRs) is a promising way to develop long-term immunity against SARS-CoV-2.