Results 21 to 30 of about 889,273 (265)

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

Molecular Genetics and Metabolism Reports, 2019
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff   +7 more
doaj   +1 more source

Comparison of cyclopentolate versus tropicamide cycloplegia: A systematic review and meta-analysis

Journal of Optometry, 2018
Purpose: The aim of the present meta-analysis is to compare the efficacy of cyclopentolate and tropicamide in controlling accommodation during refraction. Methods: A comprehensive literature search was performed in PubMed, Scopus, Science direct and Ovid
Negareh Yazdani, Ramin Sadeghi, Hamed Momeni-Moghaddam, Leili Zarifmahmoudi, Asieh Ehsaei   +4 more
doaj   +1 more source

Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty , Ysphaneendramallimoggala , Brijesh Naik , Leslie Lewis , Nalini K , Pragna Rao   +5 more
doaj  

Evaluating the effective factors for reporting medical errors among midwives working at teaching hospitals affiliated to Isfahan University of Medical Sciences

Iranian Journal of Nursing and Midwifery Research, 2017
Background: Recently, evaluation and accreditation system of hospitals has had a special emphasis on reporting malpractices and sharing errors or lessons learnt from errors, but still due to lack of promotion of systematic approach for solving problems ...
Fahimeh Khorasani, Marjan Beigi
doaj   +1 more source

Tragedy of Errors- An Analysis of Human Factor in Medical Errors [PDF]

Journal of Clinical and Diagnostic Research, 2020
William Shakespeare wrote a play “Comedy of error”, but this is about medical error which may often result in tragic outcome. We often read about medical errors and sometimes realise in our clinical practice that an error has been committed by us or our
Manika Agarwal, Sharat Agarwal
doaj   +1 more source

Retrospective Evaluation of Common Dentistry Errors in Selected Dental Clinics of the Armed Forces, Iran [PDF]

Journal of Research in Applied and Basic Medical Sciences, 2023
Background & Aims: The occurrence of errors in dental practice is an inevitable factor resulting in a reduction in the quality of medical services. These errors can prompt adverse complications, weaken the patient's trust in the dentist, and induce ...
Elahe Tahmasebi, Mohsen Yazdanian, Mahmood Salesi, Samira Hajisadeghi, Ehsan Moghadam   +4 more
doaj  

Hospitalization Through Families’ Eyes: Comparing Inpatient Care Quality for Children With Sickle Cell Disease and Cystic Fibrosis in Canada

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker, Kyle Kemp, Perri Tutelman, Sharon H. J. Hou, Paul Fairie, Maria Santana, Gregory M. T. Guilcher, Taryn Fay‐McClymont, Glenda Bendiak, Wendy Pelletier, Nicola Wright, Fiona Schulte   +11 more
wiley   +1 more source

Deep Sequencing of FLT3‐ITD Enables Response Evaluation and Post‐Treatment Monitoring in Childhood AML: An Exploratory Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm, Bea Tornberg, Erik Delsing Malmberg, Henrik Hasle, Kristian Løvvik Juul‐Dam, Lars Palmqvist, Borhan R. Saeed, Giti Shah Barkhordar, Anastasia Soboli, Anna Staffas, Jonas Abrahamsson, Linda Fogelstrand   +11 more
wiley   +1 more source

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

Orphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe   +11 more
doaj   +1 more source