Open Access. Powered by Scholars. Published by Universities.®
- Keyword
-
- AMC5 (1)
- Advances (1)
- Arthrogryposis multiplex congenita 5 (1)
- Asia (1)
- Biallelic variation (1)
-
- Biomarkers (1)
- CNS (1)
- COVID-19 (1)
- Child health (1)
- Children (1)
- Community perceptions (1)
- Community-based participatory qualitative research (1)
- Developmental neurology (1)
- Diffuse intrinsic pontine glioma (1)
- Encephalopathy (1)
- Enteropathogen (1)
- Environmental enteric dysfunction (EED) (1)
- Epidemiology (1)
- GSED (1)
- Giardia (1)
- Growth faltering (1)
- Health services research (1)
- Heterogeneity (1)
- Integrated management of childhood illnesses (1)
- KCNT1 (1)
- Low-and-middle-income countries (1)
- Minimally invasive tissue sampling (1)
- Mutation (1)
- NDD (1)
- Neonates (1)
Articles 1 - 10 of 10
Full-Text Articles in Medicine and Health Sciences
Cohesion: A Core Outcome Set For The Treatment Of Neonatal Encephalopathy, Fiona A. Quirke, Shabina Ariff, Malcolm R. Battin, Caitlin Bernard, Linda Biesty, Frank H. Bloomfield, Mandy Daly, Elaine Finucane, Maira Niaz, Farhana Tabassum
Cohesion: A Core Outcome Set For The Treatment Of Neonatal Encephalopathy, Fiona A. Quirke, Shabina Ariff, Malcolm R. Battin, Caitlin Bernard, Linda Biesty, Frank H. Bloomfield, Mandy Daly, Elaine Finucane, Maira Niaz, Farhana Tabassum
Department of Paediatrics and Child Health
Background: Heterogeneity in outcomes reported in trials of interventions for the treatment of neonatal encephalopathy (NE) makes evaluating the effectiveness of treatments difficult. Developing a core outcome set for NE treatment would enable researchers to measure and report the same outcomes in future trials. This would minimise waste, ensure relevant outcomes are measured and enable evidence synthesis. Therefore, we aimed to develop a core outcome set for treating NE.
Methods: Outcomes identified from a systematic review of the literature and interviews with parents were prioritised by stakeholders (n = 99 parents/caregivers, n = 101 healthcare providers, and n = 22 …
Postmortem Minimally Invasive Tissue Sampling In Communities: Exploring Perceptions Of Families, Funeral Workers, Religious And Community Leaders And Healthcare Providers From Pakistan, Nazia Ahsan, Fauzia Aman Malik, Waliyah Mughis, Rawshan Jabeen, Shaheen Mehboob, Raheel Allana, Syeda Quratulain, Saima Jamal Saima Jamal, Christina R. Paganelli, Abdul Momin Kazi
Postmortem Minimally Invasive Tissue Sampling In Communities: Exploring Perceptions Of Families, Funeral Workers, Religious And Community Leaders And Healthcare Providers From Pakistan, Nazia Ahsan, Fauzia Aman Malik, Waliyah Mughis, Rawshan Jabeen, Shaheen Mehboob, Raheel Allana, Syeda Quratulain, Saima Jamal Saima Jamal, Christina R. Paganelli, Abdul Momin Kazi
Department of Paediatrics and Child Health
Background: Minimally invasive tissue sampling (MITS) has increasingly been used to improve the diagnosis of disease and identification of the cause of death, particularly in underserved areas. However, there are multiple barriers to accessing those who die within the community, our study aimed to explore the perceptions and insights of community members and healthcare providers regarding the feasibility of implementing MITS in community settings.
Methods: A qualitative exploratory study was conducted. A total of twenty one in-depth interviews were conducted with deceased infants' parents, elders of the family, religious leaders, community leaders, and funeral workers. Focus group discussions were conducted …
Building Up A Genomic Surveillance Platform For Sars-Cov-2 In The Middle Of A Pandemic: A True North-South Collaboration, Waqasuddin Khan, Furqan Kabir, Samiah Kanwar, Fatima Aziz, Sahrish Muneer, Adil Kalam, Mehdia Ali, Nadia Ansari, Fyezah Jehan, Muhammad Imran Nisar
Building Up A Genomic Surveillance Platform For Sars-Cov-2 In The Middle Of A Pandemic: A True North-South Collaboration, Waqasuddin Khan, Furqan Kabir, Samiah Kanwar, Fatima Aziz, Sahrish Muneer, Adil Kalam, Mehdia Ali, Nadia Ansari, Fyezah Jehan, Muhammad Imran Nisar
Department of Paediatrics and Child Health
Next-generation sequencing technology has revolutionised pathogen surveillance over the last two decades. However, the benefits are not equitably distributed, with developing countries lagging far behind in acquiring the required technology and analytical capacity. Recent declines in the cost associated with sequencing-equipment and running consumables have created an opportunity for broader adoption. During the COVID-19 pandemic, rapid diagnostics development and DNA sequencing revolutionised the ability to diagnose and sequence SARS-CoV-2 rapidly. Socioeconomic inequalities substantially impact the ability to sequence SARS-CoV-2 strains and undermine a developing country's pandemic preparedness. Low- and middle-income countries face additional challenges in establishing, maintaining and expanding genomic …
Can Machine Learning Methods Be Used For Identification Of At-Risk Neonates In Low-Resource Settings? A Prospective Cohort Study, Babar S. Hasan, Zahra Hoodbhoy, Amna Khan, Mariana Nogueira, Bart Bijnens, Devyani Chowdhury
Can Machine Learning Methods Be Used For Identification Of At-Risk Neonates In Low-Resource Settings? A Prospective Cohort Study, Babar S. Hasan, Zahra Hoodbhoy, Amna Khan, Mariana Nogueira, Bart Bijnens, Devyani Chowdhury
Department of Paediatrics and Child Health
Introduction: Timely identification of at-risk neonates (ARNs) in the community is essential to reduce mortality in low-resource settings. Tools such as American Academy of Pediatrics pulse oximetry (POx) and WHO Young Infants Clinical Signs (WHOS) have high specificity but low sensitivity to identify ARNs. Our aim was assessing the value of POx and WHOS independently, in combination and with machine learning (ML) from clinical features, to detect ARNs in a low/middle-income country.
Methods: This prospective cohort study was conducted in a periurban community in Pakistan. Eligible live births were screened using WHOS and POx along with clinical information regarding pregnancy …
Potassium Channel Subfamily T Member 1(Kcnt1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report, Prem Chand, Meher Angez, Ayesha Nasir Hameed, Salman Kirmani
Potassium Channel Subfamily T Member 1(Kcnt1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report, Prem Chand, Meher Angez, Ayesha Nasir Hameed, Salman Kirmani
Department of Paediatrics and Child Health
Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid. This case demonstrated that EIMFS is a grave infantile epileptic encephalopathy which is refractory to anti epileptic drugs and can present with a …
Emerging Therapeutic Strategies For Diffuse Intrinsic Pontine Glioma: A Systematic Review, Shahrukh Farrukh, Shagufta Habib, Amna Rafaqat, Zouina Sarfraz, Azza Sarfraz, Muzna Sarfraz, Karla Robles-Velasco, Miguel Felix, Ivan Cherrez-Ojeda
Emerging Therapeutic Strategies For Diffuse Intrinsic Pontine Glioma: A Systematic Review, Shahrukh Farrukh, Shagufta Habib, Amna Rafaqat, Zouina Sarfraz, Azza Sarfraz, Muzna Sarfraz, Karla Robles-Velasco, Miguel Felix, Ivan Cherrez-Ojeda
Department of Paediatrics and Child Health
Background: Of all central nervous systems tumors, 10-20% are located in the brainstem; diffuse intrinsic pontine glioma (DIPG) is diagnosed in 80% of them. With over five decades of clinical trial testing, there are no established therapeutic options for DIPG. This research article aims to collate recent clinical trial data and provide a landscape for the most promising therapies that have emerged in the past five years.
Methods: PubMed/MEDLINE, Web of Science, Scopus, and Cochrane were systematically searched using the following keywords: Diffuse intrinsic pontine glioma, Pontine, Glioma, Treatment, Therapy, Therapeutics, curative, and/or Management. Both adult and pediatric patients with …
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 …
Pulse Oximetry: Why Oxygen Saturation Is Still Not A Part Of Standard Pediatric Guidelines In Low-And-Middle-Income Countries (Lmics), Maheen Sheikh, Huzaifa Ahmad, Romesa Ibrahim, Muhammad Imran Nisar, Fyezah Jehan
Pulse Oximetry: Why Oxygen Saturation Is Still Not A Part Of Standard Pediatric Guidelines In Low-And-Middle-Income Countries (Lmics), Maheen Sheikh, Huzaifa Ahmad, Romesa Ibrahim, Muhammad Imran Nisar, Fyezah Jehan
Department of Paediatrics and Child Health
Background: With the high frequency of acute respiratory infections in children worldwide, particularly so in low-resource countries, the development of effective diagnostic support is crucial. While pulse oximetry has been found to be an acceptable method of hypoxemia detection, improving clinical decision making and efficient referral, many healthcare set ups in low- and middle-income countries have not been able to implement pulse oximetry into their practice.
Main body: A review of past pulse oximetry implementation attempts in low- and middle-income countries proposes the barriers and potential solutions for complete integration in the healthcare systems. The addition of pulse oximetry into …
Protocol For Validation Of The Global Scales For Early Development (Gsed) For Children Under 3 Years Of Age In Seven Countries, Vanessa Cavallera, Gillian Lancaster, Melissa Gladstone, Maureen M. Black, Gareth Mccray, Ambreen Nizar, Salahuddin Ahmed, Muhammad Imran Nisar, Farzana Begum, Fyezah Jehan
Protocol For Validation Of The Global Scales For Early Development (Gsed) For Children Under 3 Years Of Age In Seven Countries, Vanessa Cavallera, Gillian Lancaster, Melissa Gladstone, Maureen M. Black, Gareth Mccray, Ambreen Nizar, Salahuddin Ahmed, Muhammad Imran Nisar, Farzana Begum, Fyezah Jehan
Department of Paediatrics and Child Health
Introduction: Children's early development is affected by caregiving experiences, with lifelong health and well-being implications. Governments and civil societies need population-based measures to monitor children's early development and ensure that children receive the care needed to thrive. To this end, the WHO developed the Global Scales for Early Development (GSED) to measure children's early development up to 3 years of age. The GSED includes three measures for population and programmatic level measurement: (1) short form (SF) (caregiver report), (2) long form (LF) (direct administration) and (3) psychosocial form (PF) (caregiver report). The primary aim of this protocol is to validate …
Impact Of Enteropathogens On Faltering Growth In A Resource-Limited Setting, Furqan Kabir, Junaid Iqbal, Zehra Jamil, Najeeha Talat Iqbal, Fatima Aziz, Adil Kalam, Sahrish Muneer, Aneeta Hotwani, Sheraz Ahmed, Fayyaz Umrani, Sana Syed, Kamran Sadiq, Syed Asad Ali
Impact Of Enteropathogens On Faltering Growth In A Resource-Limited Setting, Furqan Kabir, Junaid Iqbal, Zehra Jamil, Najeeha Talat Iqbal, Fatima Aziz, Adil Kalam, Sahrish Muneer, Aneeta Hotwani, Sheraz Ahmed, Fayyaz Umrani, Sana Syed, Kamran Sadiq, Syed Asad Ali
Department of Paediatrics and Child Health
Introduction: Environmental enteropathy is an important contributor to childhood malnutrition in the developing world. Chronic exposure to fecal pathogens leads to alteration in intestinal structure and function, resulting in impaired gut immune function, malabsorption, and growth faltering leading to environmental enteropathy.
Methods: A community-based intervention study was carried out on children till 24 months of age in Matiari district, Pakistan. Blood and fecal specimens were collected from the enrolled children aged 3-6 and 9 months. A real-time PCR-based TaqMan array card (TAC) was used to detect enteropathogens.
Results: Giardia, Campylobacter spp., enteroaggregative Escherichia coli (EAEC), Enteropathogenic Escherichia coli (EPEC), …