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- Complication (2)
- Hip fracture (2)
- Surgery (2)
- Bruton type agammaglobulinemia (1)
- Bruton tyrosine Kinase mutation (1)
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- Child health (1)
- Conflict setting of Afghanistan (1)
- Diarrhoea. (1)
- Drug resistant infections (1)
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- Improving reproductive (1)
- January effect (1)
- July effect (1)
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- Poor countries (1)
- Resident (1)
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- Season (1)
- Sensory autonomic neuropathy (1)
- Spastic paraplegia (1)
- Summer (1)
- TECPR2 (1)
- Trainee (1)
- Whole exome sequencing (1)
Articles 1 - 9 of 9
Full-Text Articles in Medicine and Health Sciences
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 …
Seasonal Influence On Postoperative Hip Fracture Complications: Retrospective Cohort Of More Than 1000 Patients From A Tertiary-Care University Hospital, Obada Hasan, Mashal Amin, Fatima Mahmood, Amna Rabbani, Umar Rabbani, Shahryar Noordin
Seasonal Influence On Postoperative Hip Fracture Complications: Retrospective Cohort Of More Than 1000 Patients From A Tertiary-Care University Hospital, Obada Hasan, Mashal Amin, Fatima Mahmood, Amna Rabbani, Umar Rabbani, Shahryar Noordin
Department of Paediatrics and Child Health
Background: Hip fractures account for one of the most debilitating conditions affecting the general population amongst the developed and developing nations. Investigators aimed to study the influence of the ongoing season i.e. whether patients operated upon in summer or winter, on post-operative complications occurring within 30 days of surgical procedure for hip fractures at a tertiary care hospital and level 1 trauma center.
Materials and methods: Investigators conducted a non-funded, non-commercialized retrospective cohort of 1045 patients with hip fractures managed surgically. Primary exposure was surgical procedures undertaken during the summer months (April-September). Our primary outcome was determining post-operative complication rates …
Do New Trainees Pose A Threat To Postoperative Complications After Hip Fracture Surgeries? Retrospective Cohort Of 1045 Patients Over A Decade At A University Hospital, Obada Hasan, Mashal Amin, Umar Rabbani, Amna Rabbani, Fatima Mahmood, Shahryar Noordin
Do New Trainees Pose A Threat To Postoperative Complications After Hip Fracture Surgeries? Retrospective Cohort Of 1045 Patients Over A Decade At A University Hospital, Obada Hasan, Mashal Amin, Umar Rabbani, Amna Rabbani, Fatima Mahmood, Shahryar Noordin
Department of Paediatrics and Child Health
Introduction: Induction of new residents and surgical trainees in most institutes occurs once a year. Fresh residents with no experience, may pose a threat to the surgical procedure outcome and there can be a potential increase in patients' morbidity and mortality as a result of this turnover. Literature is inconclusive about this effect. Our aim was to study the "new residents' induction effect" on postoperative complications after hip fracture surgeries.
Methodology: This is non funded non commercialized study from a university hospital. Investigators studied a retrospective cohort of 1045 adult hip fracture patients who were operated at our tertiary care …
Scaling Up Primary Health Services For Improving Reproductive, Maternal, And Child Health: A Multisectoral Collaboration In The Conflict Setting Of Afghanistan, Jai K. Das, Nadia Akseer, Shafiq Mirzazada, Omarwalid Noorzada, Corinne E. Armstrong, Kashif Mukhtar, Ahmed Jan Naeem, Zulfiqar Ahmed Bhutta
Scaling Up Primary Health Services For Improving Reproductive, Maternal, And Child Health: A Multisectoral Collaboration In The Conflict Setting Of Afghanistan, Jai K. Das, Nadia Akseer, Shafiq Mirzazada, Omarwalid Noorzada, Corinne E. Armstrong, Kashif Mukhtar, Ahmed Jan Naeem, Zulfiqar Ahmed Bhutta
Department of Paediatrics and Child Health
No abstract provided.
X-Linked Agammaglobulinemia - First Case With Bruton Tyrosine Kinase Mutation From Pakistan, Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar
X-Linked Agammaglobulinemia - First Case With Bruton Tyrosine Kinase Mutation From Pakistan, Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar
Department of Paediatrics and Child Health
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan.
Drug Resistant Infections In Poor Countries: A Major Burden On Children, Zulfiqar A. Bhutta
Drug Resistant Infections In Poor Countries: A Major Burden On Children, Zulfiqar A. Bhutta
Department of Paediatrics and Child Health
No abstract provided.
Making A Difference - Drug Resistant Infections In Poor Countries - A Major Burden On Children, Zulfiqar Ahmed Bhutta
Making A Difference - Drug Resistant Infections In Poor Countries - A Major Burden On Children, Zulfiqar Ahmed Bhutta
Department of Paediatrics and Child Health
No abstract provided.
Dysphagia In Hereditary Sensory Autonomic Neuropathy Type Iv, U Shah, M Arshad, T Mozaffar
Dysphagia In Hereditary Sensory Autonomic Neuropathy Type Iv, U Shah, M Arshad, T Mozaffar
Department of Paediatrics and Child Health
No abstract provided.
Moyamoya Disease Of Childhood As A Cause Of Recurrent Cerebral Ischemic Attacks--A Case Report, S Ibrahim, S S. Hyder
Moyamoya Disease Of Childhood As A Cause Of Recurrent Cerebral Ischemic Attacks--A Case Report, S Ibrahim, S S. Hyder
Department of Paediatrics and Child Health
No abstract provided.