Results 61 to 70 of about 1,217,828 (289)

Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

iScience, 2022
Summary: At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an ...
C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey   +2 more
doaj   +1 more source

Changes in Body Composition in Children and Young People Undergoing Treatment for Acute Lymphoblastic Leukemia: A Systematic Review and Meta‐Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Ongoing evidence indicates increased risk of sarcopenic obesity among children and young people (CYP) with acute lymphoblastic leukemia (ALL), often beginning early in treatment, persisting into survivorship. This review evaluates current literature on body composition in CYP with ALL during and after treatment.
Lina A. Zahed, Raquel Revuelta Iniesta, Mary Fewtrell, Julie Lanigan, Breeana Gardiner, Graeme O'Connor   +5 more
wiley   +1 more source

Myotonic dystrophy: genetics and clinical polymorphism

Анналы клинической и экспериментальной неврологии, 2019
Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova, Anna N. Moskalenko, Ekaterina Yu. Fedotova, Sergey A. Kurbatov, Sergey N. Illarioshkin   +4 more
doaj   +1 more source

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

Frontiers in Genetics, 2022
Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza, Nina Pereza, Rifet Terzić, Dijana Plaseska-Karanfilska, Olivera Miljanović, Olivera Miljanović, Ivana Novaković, Željka Poslon, Željka Poslon, Saša Ostojić, Saša Ostojić, Borut Peterlin   +11 more
doaj   +1 more source

Parent‐to‐Child Information Disclosure in Pediatric Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Despite professional consensus regarding the importance of open communication with pediatric cancer patients about their disease, actual practice patterns of disclosure are understudied. Extant literature suggests a significant proportion of children are not told about their diagnosis/prognosis, which is purported to negatively ...
Rachel A. Kentor, Flora Hoodin, Michelle Byrd, Kristin A. Kullgren, Leah LaLonde, Lauren Benkoske, Patrick Smith, Dawn Carson, Karen MacDonald, Susumu Inoue, Brenda Kitchen, Kate Gowans, Gregory A. Yanik   +12 more
wiley   +1 more source

Clinical Genetics in Interstitial Lung Disease

Frontiers in Medicine, 2018
Interstitial lung disease (ILD) comprises a heterogeneous group of diffuse parenchymal lung processes with overlapping clinical, radiographic, and histopathologic features. Among the most common and deadly ILDs are idiopathic pulmonary fibrosis (IPF) and
Chad A. Newton, Chad A. Newton, Philip L. Molyneaux, Philip L. Molyneaux, Justin M. Oldham   +4 more
doaj   +1 more source

Predicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning‐Based Approaches

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives To identify predictors of chronic ITP (cITP) and to develop a model based on several machine learning (ML) methods to estimate the individual risk of chronicity at the timepoint of diagnosis. Methods We analyzed a longitudinal cohort of 944 children enrolled in the Intercontinental Cooperative immune thrombocytopenia (ITP) Study ...
Severin Kasser, Alice Bizeul, Meera Chitlur, Hugo Donato, Jelena Roganovic, Julia E. Vogt, Thomas Kühne   +6 more
wiley   +1 more source

What\u27s in a Name? New Bacterial Species and Changes to Taxonomic Status from 2012 through 2015 [PDF]

, 2017
Technological advancements in fields such as molecular genetics and the human microbiome have resulted in an unprecedented recognition of new bacterial genus/species designations by the International Journal of Systematic and Evolutionary Microbiology ...
Carroll, Karen C., Munson, Erik
core   +1 more source

Prognostic Impact of Treatment Modalities, Including Targeted Compartmental Radio‐Immunotherapy, in a Cohort of Neuroblastoma Patients With CNS Metastases at Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neuroblastoma (NB) with central nervous system (CNS) metastases is rare at diagnosis, but occurs more often during relapse/progression. Patients with CNS metastases face a dismal prognosis, with no standardized curative treatment available.
Vicente Santa‐Maria Lopez, Anna Felip‐Badia, Marina Caballero‐Bellon, Nazaret Sanchez‐Sierra, Alicia Castañeda, Moira Garraus, Maite Gorostegui, Margarida Simão‐Rafael, Juan Pablo Muñoz, Marta Perez‐Somarriba, Salvador Mañe, Mariana Cecilia Planells, Sara Perez‐Jaume, Jaume Mora   +13 more
wiley   +1 more source

Medical care in clinical genetics: an experience of decentralization in southern Brazil [PDF]

, 2021
Kevin Francisco Durigon Meneghini, Simone de Menezes Karam, Victor Francis Pereira Madruga, Andrea Schulz Silva Ungaretti, Eduarda Cecilia Pinguello, Rafaely Severo   +5 more
openalex   +1 more source