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Articles 1 - 30 of 36
Full-Text Articles in Life Sciences
The Clinical And Genetic Spectrum Of Autosomal-Recessive Tor1a-Related Disorders, Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Shahnaz Ibrahim
The Clinical And Genetic Spectrum Of Autosomal-Recessive Tor1a-Related Disorders, Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Shahnaz Ibrahim
Department of Paediatrics and Child Health
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has …
Biorisk Management, Laboratory Acquired Infections And Clinical Containment, Kashif Ali, Furqan Kabir, Esmeralda Meyer
Biorisk Management, Laboratory Acquired Infections And Clinical Containment, Kashif Ali, Furqan Kabir, Esmeralda Meyer
Department of Paediatrics and Child Health
No abstract provided.
The Childhood Acute Illness And Nutrition (Chain) Network Nested Case-Cohort Study Protocol: A Multi-Omics Approach To Understanding Mortality Among Children In Sub-Saharan Africa And South Asia, James M. Njunge, Kirkby Tickell, Abdoulaye Hama Diallo, Abu Sadat Mohammad Sayeem Bin Shahi, Md Amran Gazi, Ali Faisal Saleem, Zaubina Kazi, Syed Ali, Caroline Tigoi, Ezekiel Mupere
The Childhood Acute Illness And Nutrition (Chain) Network Nested Case-Cohort Study Protocol: A Multi-Omics Approach To Understanding Mortality Among Children In Sub-Saharan Africa And South Asia, James M. Njunge, Kirkby Tickell, Abdoulaye Hama Diallo, Abu Sadat Mohammad Sayeem Bin Shahi, Md Amran Gazi, Ali Faisal Saleem, Zaubina Kazi, Syed Ali, Caroline Tigoi, Ezekiel Mupere
Department of Paediatrics and Child Health
Introduction: Many acutely ill children in low- and middle-income settings have a high risk of mortality both during and after hospitalisation despite guideline-based care. Understanding the biological mechanisms underpinning mortality may suggest optimal pathways to target for interventions to further reduce mortality. The Childhood Acute Illness and Nutrition (CHAIN) Network ( www.chainnnetwork.org) Nested Case-Cohort Study (CNCC) aims to investigate biological mechanisms leading to inpatient and post-discharge mortality through an integrated multi-omic approach.
Methods and analysis; The CNCC comprises a subset of participants from the CHAIN cohort (1278/3101 hospitalised participants, including 350 children who died and 658 survivors, and …
Neurodevelopment And Recovery From Wasting, Harriet M. Babikako, Celine Bourdon, Emmie Mbale, Peace Aber, Annet Birabwa, Josephine Chimoyo, Wieger Voskuijl, Zaubina Kazi, John Mukisa, Ali Faisal Saleem
Neurodevelopment And Recovery From Wasting, Harriet M. Babikako, Celine Bourdon, Emmie Mbale, Peace Aber, Annet Birabwa, Josephine Chimoyo, Wieger Voskuijl, Zaubina Kazi, John Mukisa, Ali Faisal Saleem
Department of Paediatrics and Child Health
Background and objectives: Acute illness with malnutrition is a common indication for hospitalization among children in low- and middle-income countries. We investigated the association between wasting recovery trajectories and neurodevelopmental outcomes in young children 6 months after hospitalization for an acute illness.
Methods: Children aged 2 to 23 months were enrolled in a prospective observational cohort of the Childhood Acute Illness & Nutrition Network, in Uganda, Malawi, and Pakistan between January 2017 and January 2019. We grouped children on the basis of their wasting recovery trajectories using change in mid-upper arm circumference for age z-score. Neurodevelopment was assessed with the …
Covid-19, Nutrition, And Gender: An Evidence-Informed Approach To Gender-Responsive Policies And Programs, Anna Kalbarczyk, Noora-Lisa Aberman, Bregje S M Van Asperen, Rosemary Morgan, Zulfiqar Ahmed Bhutta, Bianca Carducci, Rebecca Heidkamp, Saskia Osendarp, Neha Kumar, Anna Lartey
Covid-19, Nutrition, And Gender: An Evidence-Informed Approach To Gender-Responsive Policies And Programs, Anna Kalbarczyk, Noora-Lisa Aberman, Bregje S M Van Asperen, Rosemary Morgan, Zulfiqar Ahmed Bhutta, Bianca Carducci, Rebecca Heidkamp, Saskia Osendarp, Neha Kumar, Anna Lartey
Department of Paediatrics and Child Health
In addition to the direct health impacts of COVID-19, government and household mitigation measures have triggered negative indirect economic, educational, and food and health system impacts, hitting low-and middle-income countries the hardest and disproportionately affecting women and girls. We conducted a gender focused analysis on five critical and interwoven crises that have emerged because of the COVID-19 crisis and exacerbated malnutrition and food insecurity. These include restricted mobility and isolation; reduced income; food insecurity; reduced access to essential health and nutrition services; and school closures. Our approach included a theoretical gender analysis, targeted review of the literature, and a visual …
Alleviating Hidden Hunger: An Infallible Bridge To Improved Health And Nutrition, Jai K. Das, Zahra Ali Padhani
Alleviating Hidden Hunger: An Infallible Bridge To Improved Health And Nutrition, Jai K. Das, Zahra Ali Padhani
Department of Paediatrics and Child Health
No abstract provided.
Poliovirus Immunity Among Children Aged 6-11 And 36-48 Months In 14 Polio High-Risk Provinces Of Afghanistan: A Health-Facility-Based Study, Sajid Bashir Soofi, Maureen Martinez, Noha H. Farag, William S. Hendley, Derek Ehrhardt, Imran Ahmed, Imtiaz Hussain, William Weldon, Ahmed M. Kassem
Poliovirus Immunity Among Children Aged 6-11 And 36-48 Months In 14 Polio High-Risk Provinces Of Afghanistan: A Health-Facility-Based Study, Sajid Bashir Soofi, Maureen Martinez, Noha H. Farag, William S. Hendley, Derek Ehrhardt, Imran Ahmed, Imtiaz Hussain, William Weldon, Ahmed M. Kassem
Department of Paediatrics and Child Health
Afghanistan is one of two countries where wild poliovirus (WPV) type 1 remains endemic. We conducted a facility-based cross-sectional survey of antipoliovirus antibodies in children in 14 provinces of Afghanistan. The provinces were selected based on programmatic priorities for polio eradication. Children aged 6-11 and 36-48 months attending outpatient clinics were enrolled in the study. We collected venous blood, isolated serum, and conducted neutralization assays to detect poliovirus neutralizing antibodies. A total of 2086 children from the 14 provinces were enrolled. Among the enrolled children, 44.3% were girls; the median age in the 6-11-month group was 9.4 months, and in …
Frequency Of Bystander Exposure To Antibiotics For Enteropathogenic Bacteria Among Young Children In Low-Resource Settings, Elizabeth T. Rogawski Mcquade, Stephanie A. Brennhofer, Sarah E. Elwood, Timothy L. Mcmurry, Joseph A. Lewnard, Estomih R. Mduma, Sanjaya Shrestha, Najeeha Talat Iqbal, Pascal O. Bessong, Gagandeep Kang
Frequency Of Bystander Exposure To Antibiotics For Enteropathogenic Bacteria Among Young Children In Low-Resource Settings, Elizabeth T. Rogawski Mcquade, Stephanie A. Brennhofer, Sarah E. Elwood, Timothy L. Mcmurry, Joseph A. Lewnard, Estomih R. Mduma, Sanjaya Shrestha, Najeeha Talat Iqbal, Pascal O. Bessong, Gagandeep Kang
Department of Paediatrics and Child Health
Children in low-resource settings carry enteric pathogens asymptomatically and are frequently treated with antibiotics, resulting in opportunities for pathogens to be exposed to antibiotics when not the target of treatment (i.e., bystander exposure). We quantified the frequency of bystander antibiotic exposures for enteric pathogens and estimated associations with resistance among children in eight low-resource settings. We analyzed 15,697 antibiotic courses from 1,715 children aged 0 to 2 y from the MAL-ED birth cohort. We calculated the incidence of bystander exposures and attributed exposures to respiratory and diarrheal illnesses. We associated bystander exposure with phenotypic susceptibility of E. coli isolates in …
Performance Of Machine Learning Classifiers In Classifying Stunting Among Under-Five Children In Zambia, Obvious Nchimunya Chilyabanyama, Roma Chilengi, Roma Chilengi, Michelo Simuyandi, Caroline C. Chisenga, Masuzyo Chirwa, Kalongo Hamusonde, Rakesh Kumar Saroj, Najeeha Talat Iqbal, Innocent Ngaruye
Performance Of Machine Learning Classifiers In Classifying Stunting Among Under-Five Children In Zambia, Obvious Nchimunya Chilyabanyama, Roma Chilengi, Roma Chilengi, Michelo Simuyandi, Caroline C. Chisenga, Masuzyo Chirwa, Kalongo Hamusonde, Rakesh Kumar Saroj, Najeeha Talat Iqbal, Innocent Ngaruye
Department of Paediatrics and Child Health
Stunting is a global public health issue. We sought to train and evaluate machine learning (ML) classification algorithms on the Zambia Demographic Health Survey (ZDHS) dataset to predict stunting among children under the age of five in Zambia. We applied Logistic regression (LR), Random Forest (RF), SV classification (SVC), XG Boost (XgB) and Naïve Bayes (NB) algorithms to predict the probability of stunting among children under five years of age, on the 2018 ZDHS dataset. We calibrated predicted probabilities and plotted the calibration curves to compare model performance. We computed accuracy, recall, precision and F1 for each machine learning algorithm. …
Physician's Attitudes On Pulmonary Rehabilitation Following Covid-19: A Brief Perspective From A Developing Country, Ivan Cherrez-Ojeda, Emanuel Vanegas, Miguel Felix, María José Farfán Bajaña, Azza Sarfraz, Zouina Sarfraz, Genesis Camacho, Alanna Barrios-Ruiz, Jack Michel
Physician's Attitudes On Pulmonary Rehabilitation Following Covid-19: A Brief Perspective From A Developing Country, Ivan Cherrez-Ojeda, Emanuel Vanegas, Miguel Felix, María José Farfán Bajaña, Azza Sarfraz, Zouina Sarfraz, Genesis Camacho, Alanna Barrios-Ruiz, Jack Michel
Department of Paediatrics and Child Health
Despite the uncertainty about the follow up of COVID-19 survivors, there is a growing body of evidence supporting specific interventions including pulmonary rehabilitation, which may lead to a reduced hospital stay and improved overall respiratory function. The aim of this short report was to assess the attitudes toward pulmonary rehabilitation following COVID-19 among Ecuadorian physicians. A cross-sectional study was conducted, in which a 5-question survey was used to assess the level of agreement to specific statements with a 5-point Likert scale. Out of the 282 participants, 48.2% (n=136) were male, with a mean of 12.6 (SD=11.3) years of experience. More …
Optimal Iron Content In Ready-To-Use Therapeutic Foods For The Treatment Of Severe Acute Malnutrition In The Community Settings: A Protocol For The Systematic Review And Meta-Analysis, Aamer Imdad, Melissa François, Fanny F. Chen, Abigail Smith, Olivia Tsistinas, Emily Tanner Smith, Jai K. Das, Zulfiqar Ahmed Bhutta
Optimal Iron Content In Ready-To-Use Therapeutic Foods For The Treatment Of Severe Acute Malnutrition In The Community Settings: A Protocol For The Systematic Review And Meta-Analysis, Aamer Imdad, Melissa François, Fanny F. Chen, Abigail Smith, Olivia Tsistinas, Emily Tanner Smith, Jai K. Das, Zulfiqar Ahmed Bhutta
Department of Paediatrics and Child Health
Introduction: The current standard of care for children with severe acute malnutrition (SAM) involves using ready-to-use therapeutic food (RUTF) to promote growth; however, the precise formulation to achieve optimal recovery remains unclear. Emerging research suggests that alternative RUTF formulations may be more effective in correcting SAM-related complications such as anaemia and iron deficiency. This systematic review commissioned by the WHO aims to synthesise the most recent research on the iron content in RUTF and related products in the community-based treatment of uncomplicated severe malnutrition in children aged 6 months and older.
Methods and analysis: We will search multiple electronic databases. …
The Correlation Of D-Dimer To Stroke Diagnosis Within 24 Hours: A Meta-Analysis, Adeel Ahmad, Zara Islam, Saad Manzoor Ahmad, Zouina Sarfraz, Azza Sarfraz, Miguel Felix, Ivan Cherrez-Ojeda
The Correlation Of D-Dimer To Stroke Diagnosis Within 24 Hours: A Meta-Analysis, Adeel Ahmad, Zara Islam, Saad Manzoor Ahmad, Zouina Sarfraz, Azza Sarfraz, Miguel Felix, Ivan Cherrez-Ojeda
Department of Paediatrics and Child Health
Background: Diagnosing D-Dimer early is essential to optimize clinical treatment and quality of life and reduce mortality. This study aims to identify the difference of D-Dimer levels (ng/ml) in patients with stroke within the 6- and 24-h period compared to patients that mimic stroke.
Methods: An electronic database search across PubMed/MEDLINE, Cochrane, Web of Science, CINAHL, EMBASE, and Scopus was conducted until December 10, 2021. Studies were eligible if they included adult patients with stroke compared to stroke mimics or controls reporting D-Dimer values. Quality assessment was conducted using GRADE. The standardized mean difference and 95% confidence intervals were calculated …
Optimizing Prevention And Community-Based Management Of Severe Malnutrition In Children, Zulfiqar Ahmed Bhutta
Optimizing Prevention And Community-Based Management Of Severe Malnutrition In Children, Zulfiqar Ahmed Bhutta
Department of Paediatrics and Child Health
Zulfiqar A. Bhutta discusses prevention and treatment strategies for optimization of community-based management of severe acute malnutrition in children
Nutritional Status And Dietary Intake Of School-Age Children And Early Adolescents: Systematic Review In A Developing Country And Lessons For The Global Perspective, Durray Shahwar Abid Khan, Jai K. Das, Shagufta Zareen, Zohra S. Lassi, Afsah Salman, Muhammad Raashid, Aftab A. Dero, Aijaz Khanzada, Zulfiqar Ahmed Bhutta
Nutritional Status And Dietary Intake Of School-Age Children And Early Adolescents: Systematic Review In A Developing Country And Lessons For The Global Perspective, Durray Shahwar Abid Khan, Jai K. Das, Shagufta Zareen, Zohra S. Lassi, Afsah Salman, Muhammad Raashid, Aftab A. Dero, Aijaz Khanzada, Zulfiqar Ahmed Bhutta
Department of Paediatrics and Child Health
Background: The prevalence of double burden of malnutrition (DBM) is high in low- and middle-income countries (LMICs). Data on malnutrition trends is present for children age, however the data for school-going children and adolescents aged 5-15 years is scarce.
Objective: This systematic review presents the pooled prevalence of nutritional status and dietary intake among school-going children and adolescents (5-15 years of age) in an LMIC of Pakistan and the perspective for broader global nutrition in this age group.
Methods: An electronic search of databases was run on Pubmed and Medline (via Ovid) along with gray literature and archives of local …
Serotype-Specific Effectiveness Against Pneumococcal Carriage And Serotype Replacement After Ten-Valent Pneumococcal Conjugate Vaccine (Pcv10) Introduction In Pakistan, Muhammad Imran Nisar, Fyezah Jehan, Shahira Shahid, Sheraz Ahmed, Sadia Shakoor, Furqan Kabir, Aneeta Hotwani, Sahrish Muneer, Farah Khalid, Sajid Muhammad, Asad Ali, Najeeha Talat Iqbal
Serotype-Specific Effectiveness Against Pneumococcal Carriage And Serotype Replacement After Ten-Valent Pneumococcal Conjugate Vaccine (Pcv10) Introduction In Pakistan, Muhammad Imran Nisar, Fyezah Jehan, Shahira Shahid, Sheraz Ahmed, Sadia Shakoor, Furqan Kabir, Aneeta Hotwani, Sahrish Muneer, Farah Khalid, Sajid Muhammad, Asad Ali, Najeeha Talat Iqbal
Department of Paediatrics and Child Health
Objective: Pakistan was one of the first South-Asian countries to introduce the ten-valent pneumococcal conjugate vaccine (PCV10) at the national level, using a 3+0 schedule without catchup, in 2013.
Methods: From 2014-18, fifteen children Matiari, Sindh, and nasopharyngeal swabs were collected. The samples were cultured, and pneumococcus was further serotyped through multiplex PCR at the Aga Khan University Hospital as per the method described by the Centers for Disease Control and Prevention, USA.
Results: Pneumococcus was detected in 2370/3140 (75%) children. Vaccine type (VT) and non-vaccine type (NVT) serotypes were carried by 379 and 1990 children. There was a significant …
Associations Between Eight Earth Observation-Derived Climate Variables And Enteropathogen Infection: An Independent Participant Data Meta-Analysis Of Surveillance Studies With Broad Spectrum Nucleic Acid Diagnostics, Josh M. Colston, Benjamin F. Zaithcik, Hamada S. Badr, Eleanor Burnett, Syed Asad Ali, Ajit Rayamajhi, Syed M. Satter, Daniel Eibach, Ralf Krumkamp, M Imran Nisar, Anita K. M. Zaidi, Zulfiqar Ahmed Bhutta
Associations Between Eight Earth Observation-Derived Climate Variables And Enteropathogen Infection: An Independent Participant Data Meta-Analysis Of Surveillance Studies With Broad Spectrum Nucleic Acid Diagnostics, Josh M. Colston, Benjamin F. Zaithcik, Hamada S. Badr, Eleanor Burnett, Syed Asad Ali, Ajit Rayamajhi, Syed M. Satter, Daniel Eibach, Ralf Krumkamp, M Imran Nisar, Anita K. M. Zaidi, Zulfiqar Ahmed Bhutta
Department of Paediatrics and Child Health
Diarrheal disease, still a major cause of childhood illness, is caused by numerous, diverse infectious microorganisms, which are differentially sensitive to environmental conditions. Enteropathogen‐specific impacts of climate remain underexplored. Results from 15 studies that diagnosed enteropathogens in 64,788 stool samples from 20,760 children in 19 countries were combined. Infection status for 10 common enteropathogens—adenovirus, astrovirus, norovirus, rotavirus, sapovirus, Campylobacter, ETEC, Shigella, Cryptosporidium and Giardia—was matched by date with hydrometeorological variables from a global Earth observation dataset—precipitation and runoff volume, humidity, soil moisture, solar radiation, air pressure, temperature, and wind speed. Models were fitted for each pathogen, accounting …
Bile Acid Profiling Reveals Distinct Signatures In Undernourished Children With Environmental Enteric Dysfunction, Xueheng Zhao, Kenneth D R. Setchell, Rong Huang, Indika Mallawaarachchi, Lubaina Ehsan, Edward Dobrzykowski Iii, Junfang Zhao, Sana Syed, Najeeha Talat Iqbal, Junaid Iqbal, Kamran Sadiq, Sheraz Ahmed, Syed Asad Ali
Bile Acid Profiling Reveals Distinct Signatures In Undernourished Children With Environmental Enteric Dysfunction, Xueheng Zhao, Kenneth D R. Setchell, Rong Huang, Indika Mallawaarachchi, Lubaina Ehsan, Edward Dobrzykowski Iii, Junfang Zhao, Sana Syed, Najeeha Talat Iqbal, Junaid Iqbal, Kamran Sadiq, Sheraz Ahmed, Syed Asad Ali
Department of Paediatrics and Child Health
Background: Intestinal inflammation and malabsorption in environmental enteric dysfunction (EED) are associated with early childhood growth faltering in impoverished settings worldwide.
Objectives: The goal of this study was to identify candidate biomarkers associated with inflammation, EED histology, and as predictors of later growth outcomes by focusing on the liver-gut axis by investigating the bile acid metabolome.
Methods: Undernourished rural Pakistani infants (n = 365) with weight-for-height Z score (WHZ) < -2 were followed up to the age of 24 mo and monitored for growth, infections, and EED. Well-nourished local children (n = 51) were controls, based on consistent WHZ > 0 and height-for-age Z score (HAZ) > -1 on 2 consecutive visits at 3 and 6 mo. Serum bile acid (sBA) profiles were measured by tandem MS at the ages of 3-6 …
Usability And Acceptability Of A Mobile App For Behavior Change And To Improve Immunization Coverage Among Children In Pakistan: A Mixed-Methods Study, Abdul Momin Kazi, Nazia Ahsan, Waliyah Mughis, Saima Jamal, Raheel Allana, Mehreen Raza, Sahrish Muneer, Muhammad Ayub Khan Mughal, Hussain Kalimuddin, Fareeha Sameen
Usability And Acceptability Of A Mobile App For Behavior Change And To Improve Immunization Coverage Among Children In Pakistan: A Mixed-Methods Study, Abdul Momin Kazi, Nazia Ahsan, Waliyah Mughis, Saima Jamal, Raheel Allana, Mehreen Raza, Sahrish Muneer, Muhammad Ayub Khan Mughal, Hussain Kalimuddin, Fareeha Sameen
Department of Paediatrics and Child Health
Background: Pakistan's immunization uptake rates are still significantly lower than anticipated despite several initiatives. Lack of awareness, forgetting about vaccination schedule, and vaccine misconception/misinformation are a few of the major drivers that mitigate the rates of immunization. The current COVID-19 pandemic emphasizes the importance of immunization. The significant reductions in regular childhood vaccination during pandemic have increased the risk of outbreaks of vaccine-preventable diseases. Concerns among parents over possibly exposing their children to COVID-19 during child visits may have contributed to the reported declines. Innovative and cost-effective mHealth interventions must be implemented in order to address the problem of inadequate …
Balancing Science And Public Policy In Pakistan's Covid-19 Response, Zulfiqar Ahmed Bhutta, Faisal Sultan, Aamer Ikram, Adil H. Haider, Assad Hafeez, Muhammad Islam
Balancing Science And Public Policy In Pakistan's Covid-19 Response, Zulfiqar Ahmed Bhutta, Faisal Sultan, Aamer Ikram, Adil H. Haider, Assad Hafeez, Muhammad Islam
Department of Paediatrics and Child Health
Background: Coronavirus disease 2019 (COVID-19) has affected the world in an unprecedented manner and South Asian countries were among the first to experience imported cases. Pakistan's response to COVID-19 has been under scrutiny for its granularity, reach and impact.
Aims: to evaluate objectively the chronology and depth of the response to COVID-19 in Pakistan.
Methods: We evaluated available national and subnational epidemiological and burden information on COVID-19 cases and deaths in Pakistan, including projection models available to the Government at an early stage of the pandemic.
Results: Pakistan, with a population of 215 million and considerable geographic diversity, experienced case …
Prevalence And Risk Factors Associated With Multi-Drug Resistant Organisms (Mdro) Carriage Among Pediatric Patients At The Time Of Admission In A Tertiary Care Hospital Of A Developing Country. A Cross-Sectional Study, Sonia Qureshi, Noshi Maria, Mohammad Zeeshan, Seema Irfan, Farah Naz Qamar
Prevalence And Risk Factors Associated With Multi-Drug Resistant Organisms (Mdro) Carriage Among Pediatric Patients At The Time Of Admission In A Tertiary Care Hospital Of A Developing Country. A Cross-Sectional Study, Sonia Qureshi, Noshi Maria, Mohammad Zeeshan, Seema Irfan, Farah Naz Qamar
Department of Paediatrics and Child Health
Background: The rise of Multidrug-resistant organisms (MDROs) poses a considerable burden on the healthcare systems, particularly in low-middle income countries like Pakistan. There is a scarcity of data on the carriage of MDRO particularly in the pediatrics population therefore, we aimed to determine MDRO carriage in pediatric patients at the time of admission to a tertiary care hospital in Karachi, Pakistan, and to identify the risk factors associated with it.
Methods: A cross-sectional study conducted at the pediatric department of Aga Khan University Hospital (AKUH) from May to September 2019 on 347 children aged 1-18 years. For identification of MDRO …
Clinical, Neuroimaging, And Molecular Spectrum Of Tecpr2-Associated Hereditary Sensory And Autonomic Neuropathy With Intellectual Disability, Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, Shahnaz Ibrahim, Fatima Khan
Clinical, Neuroimaging, And Molecular Spectrum Of Tecpr2-Associated Hereditary Sensory And Autonomic Neuropathy With Intellectual Disability, Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, Shahnaz Ibrahim, Fatima Khan
Department of Paediatrics and Child Health
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for this genetic locus. Through international collaboration, we identified 17 individuals from 15 families with bi-allelic TECPR2-variants. We systemically reviewed clinical and molecular data from this cohort and 11 cases previously reported. Phenotypes were standardized using Human Phenotype Ontology terms. A cross-sectional analysis revealed global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea as core manifestations. A review of brain magnetic resonance imaging scans demonstrated a …
Mucosal Genomics Implicate Lymphocyte Activation And Lipid Metabolism In Refractory Environmental Enteric Dysfunction, Najeeha Talat Iqbal, Najeeb Rahman, Kamran Sadiq, Zubair Ahmad, Romana Idress, Junaid Iqbal, Sheraz Ahmed, Aneeta Hotwani, Fayyaz Umrani, Sana Syed, Syed Asad Ali
Mucosal Genomics Implicate Lymphocyte Activation And Lipid Metabolism In Refractory Environmental Enteric Dysfunction, Najeeha Talat Iqbal, Najeeb Rahman, Kamran Sadiq, Zubair Ahmad, Romana Idress, Junaid Iqbal, Sheraz Ahmed, Aneeta Hotwani, Fayyaz Umrani, Sana Syed, Syed Asad Ali
Department of Paediatrics and Child Health
Background & aims: Environmental enteric dysfunction (EED) limits the Sustainable Development Goals of improved childhood growth and survival. We applied mucosal genomics to advance our understanding of EED.
Methods: The Study of Environmental Enteropathy and Malnutrition (SEEM) followed 416 children from birth to 24 months in a rural district in Pakistan. Biomarkers were measured at 9 months and tested for association with growth at 24 months. The duodenal methylome and transcriptome was determined in 52 undernourished SEEM participants and 42 North American controls and celiac disease patients.
Results: After accounting for growth at study entry, circulating IGF-1 and ferritin predicted …
A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson
A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson
Department of Paediatrics and Child Health
Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …
An Artificial Intelligence-Based, Personalized Smartphone App To Improve Childhood Immunization Coverage And Timelines Among Children In Pakistan: Protocol For A Randomized Controlled Trial, Abdul Momin Kazi, Saad Ahmed Qazi, Sadori Khawaja, Nazia Ahsan, Rao Moueed Ahmed, Muhammad Ayub Khan Mughal, Hussain Kalimuddin, Yasir Rauf, Mehreen Raza, Saima Jamal
An Artificial Intelligence-Based, Personalized Smartphone App To Improve Childhood Immunization Coverage And Timelines Among Children In Pakistan: Protocol For A Randomized Controlled Trial, Abdul Momin Kazi, Saad Ahmed Qazi, Sadori Khawaja, Nazia Ahsan, Rao Moueed Ahmed, Muhammad Ayub Khan Mughal, Hussain Kalimuddin, Yasir Rauf, Mehreen Raza, Saima Jamal
Department of Paediatrics and Child Health
Background: The immunization uptake rates in Pakistan are much lower than desired. Major reasons include lack of awareness, parental forgetfulness regarding schedules, and misinformation regarding vaccines. In light of the COVID-19 pandemic and distancing measures, routine childhood immunization (RCI) coverage has been adversely affected, as caregivers avoid tertiary care hospitals or primary health centers. Innovative and cost-effective measures must be taken to understand and deal with the issue of low immunization rates. However, only a few smartphone-based interventions have been carried out in low- and middle-income countries (LMICs) to improve RCI.
Objective: The primary objectives of this study are to …
Strategies To Improve Coverage Of Typhoid Conjugate Vaccine (Tcv) Immunization Campaign In Karachi, Pakistan, Farah Qamar Naz, Rabab Batool, Sonia Qureshi, Miqdad Ali, Tahira Sadaf, Junaid Mehmood, Khalid Iqbal, Akram Sultan, Noah Duff, Mohammad Tahir Yousafzai
Strategies To Improve Coverage Of Typhoid Conjugate Vaccine (Tcv) Immunization Campaign In Karachi, Pakistan, Farah Qamar Naz, Rabab Batool, Sonia Qureshi, Miqdad Ali, Tahira Sadaf, Junaid Mehmood, Khalid Iqbal, Akram Sultan, Noah Duff, Mohammad Tahir Yousafzai
Department of Paediatrics and Child Health
The emergence and spread of extensively drug-resistant (XDR) typhoid in Karachi, Pakistan led to an outbreak response in Lyari Town, Karachi utilizing a mass immunization campaign with typhoid conjugate vaccine (TCV), Typbar TCV®. The mass immunization campaign, targeted Lyari Town, Karachi, one of the worst affected towns during the XDR typhoid outbreak. Here we describe the strategies used to improve acceptance and coverage of Typbar TCV in Lyari Town, Karachi. The mass immunization campaign with Typbar TCV was started as a school- and hospital-based vaccination campaign targeting children between the age of 6 months to 15 years old. A dose …
Direct Detection Of Shigella In Stool Specimens By Use Of A Metagenomic Approach, Jie Liu, Mathieu Almeida, Furqan Kabir, Sadia Shakoor, Shahida Qureshi, Anita K. M. Zaidi, Shan Li, Boubou Tamboura, Samba O. Sow, Inacio Mandomando
Direct Detection Of Shigella In Stool Specimens By Use Of A Metagenomic Approach, Jie Liu, Mathieu Almeida, Furqan Kabir, Sadia Shakoor, Shahida Qureshi, Anita K. M. Zaidi, Shan Li, Boubou Tamboura, Samba O. Sow, Inacio Mandomando
Department of Paediatrics and Child Health
The underestimation of Shigella species as a cause of childhood diarrhea disease has become increasingly apparent with quantitative PCR (qPCR)-based diagnostic methods versus culture. We sought to confirm qPCR-based detection of Shigella via a metagenomics approach. Three groups of samples were selected from diarrheal cases from the Global Enteric Multicenter Study: nine Shigella culture-positive and qPCR-positive (culture+ qPCR+) samples, nine culture-negative but qPCR-positive (culture- qPCR+) samples, and nine culture-negative and qPCR-negative (culture- qPCR-) samples. Fecal DNA was sequenced using paired-end Illumina HiSeq, whereby 3.26 × 108 ± 5.6 × 10 …
A Comparison Of Three Diagnostic Platforms For The Detection Of Influenza A And B In Children, Furqan Kabir, Marvi Tariq, Fatima Aziz, Syed Imran Rizvi, Shahida Qureshi, Syed Asad Ali, Najeeha Talat Iqbal
A Comparison Of Three Diagnostic Platforms For The Detection Of Influenza A And B In Children, Furqan Kabir, Marvi Tariq, Fatima Aziz, Syed Imran Rizvi, Shahida Qureshi, Syed Asad Ali, Najeeha Talat Iqbal
Department of Paediatrics and Child Health
Background: Viral flu is the predominant cause of hospitalization in young children, which invariably leads to enhanced morbidity and mortality in children in developing countries. Initial treatment of viral flu is based on presumptive diagnosis. Bedside testing is not common in clinical settings because of variable sensitivity and specificity of rapid tests in different settings.
Methods: To address this issue, we evaluated the performance of Binax influenza A/B rapid testing kit against two robust molecular platforms (quantitative real-time polymerase chain reaction [qRT-PCR] and TaqMan array card [TAC]) in 24 nasopharyngeal (NP) swabs, collected from children under 5 years of age. …
Missed Immunization Opportunities Among Children Under 5 Years Of Age Dwelling In Karachi City, Asif Khaliq, Sayeeda Amber Sayed, Syed Abdullah Hussaini, Kiran Azam, Mehak Qamar
Missed Immunization Opportunities Among Children Under 5 Years Of Age Dwelling In Karachi City, Asif Khaliq, Sayeeda Amber Sayed, Syed Abdullah Hussaini, Kiran Azam, Mehak Qamar
Department of Paediatrics and Child Health
Background: Immunization is the safest and effective measure for preventing and eradicating various communicable diseases. A glaring immunization gap exists between developing and industrialized countries towards immunization, because the developing countries including Pakistan are still striving to provide basic immunization to their children. The purpose of this study was to access the prevalence and factors of missing immunization among under 5-year children of Karachi.
Methods: A cross sectional study was conducted from June 2015 to October 2015 among different outpatient clinics of Karachi. Parents who had child less than 5 year of age were approached by non-probability purposive sampling. Data …
Experience With The Quantitative Lyta Gene Real-Time Polymerase Chain Reaction For The Detection Of Streptococcus Pneumoniae From Pediatric Whole Blood In Pakistan, Furqan Kabir, Sahrish Muneer, Adil Kalam, Ana Sami, Shahida Qureshi, Aneeta Hotwani, Atif Riaz, Syed Mohiuddin, Mohammad Tahir Yousafzai, Sara Hussain, Syed Asad Ali, Sadia Shakoor
Experience With The Quantitative Lyta Gene Real-Time Polymerase Chain Reaction For The Detection Of Streptococcus Pneumoniae From Pediatric Whole Blood In Pakistan, Furqan Kabir, Sahrish Muneer, Adil Kalam, Ana Sami, Shahida Qureshi, Aneeta Hotwani, Atif Riaz, Syed Mohiuddin, Mohammad Tahir Yousafzai, Sara Hussain, Syed Asad Ali, Sadia Shakoor
Department of Paediatrics and Child Health
Background: We present our experience with optimization and diagnostic use of quantitative real-time polymerase chain reaction (PCR) targeting the lytA gene of Streptococcus pneumoniae for the detection of S. pneumoniae in whole blood of children ≥5 CFU/10 μl or 1 copy of DNA/2 μl of blood.
Methods: This assay was applied on 1912 whole blood specimens collected from children pneumonia, of which 35 specimens were lytA positive. The bacterial loads were determined through categorization of load into five different categories, i.e., very high load, high load, moderate load, low load, and very low load.
Results: Of the 35 lytA-positive …
Prioritizing Research For Integrated Implementation Of Early Childhood Development And Maternal, Newborn, Child And Adolescent Health And Nutrition Platforms, Renee Sharma, Michelle F. Gaffey, Harold Alderman, Diego G. Bassani, Kimber Bogard, Gary L. Darmstadt, Jai K. Das, Joseph E De Graft–Johnson, Jena D. Hamadani, Susan Horton
Prioritizing Research For Integrated Implementation Of Early Childhood Development And Maternal, Newborn, Child And Adolescent Health And Nutrition Platforms, Renee Sharma, Michelle F. Gaffey, Harold Alderman, Diego G. Bassani, Kimber Bogard, Gary L. Darmstadt, Jai K. Das, Joseph E De Graft–Johnson, Jena D. Hamadani, Susan Horton
Department of Paediatrics and Child Health
Background: Existing health and nutrition services present potential platforms for scaling up delivery of early childhood development (ECD) interventions within sensitive windows across the life course, especially in the first 1000 days from conception to age 2 years. However, there is insufficient knowledge on how to optimize implementation for such strategies in an integrated manner. In light of this knowledge gap, we aimed to systematically identify a set of integrated implementation research priorities for health, nutrition and early child development within the 2015 to 2030 timeframe of the Sustainable Development Goals (SDGs).
Methods: We applied the Child Health and Nutrition …