Results 71 to 80 of about 1,654,437 (300)

Pulmonary Dysfunction Is Associated With Sleep Study Abnormalities in Children With Sickle Cell Disease: A Multicenter Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash, Anis Rabbani Nourani, A. K. M. Fazlur Rahman, Dima Ezmigna, Tarig Ali‐Dinar   +4 more
wiley   +1 more source

Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study

BMC Pregnancy and Childbirth
Background Fetal structural anomalies detected by prenatal ultrasound were reported in 3–5% of pregnancies, and they range from a single, minor anomaly to multiple systemic anomalies.
Leyla Özer, Süleyman Aktuna, Evrim Ünsal   +2 more
doaj   +1 more source

Familial Ménière's disease: clinical and genetic aspects [PDF]

, 2009
Background and purpose:Mre's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected ...
Bailey, M.E.S., Morrison, A W, Morrison, G A J   +2 more
core   +1 more source

Prevalence and Trajectory of Household Material Hardship Among Children With Advanced Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Families of children with advanced cancer living in poverty experience inferior outcomes including poor parent mental health and worse child quality of life. Household material hardship (HMH: food, housing, transportation, and/or utility insecurity) is a modifiable poverty exposure—and potential intervention target—that ...
Sarah Wright, Morgan A. Paul, Selena Murcia Mendez, Emily Jones, Lucille Lokko, Chelsea Heneghan, Nicholas Purol, Morgan Arnold, Rahela Aziz‐Bose, Colleen A. Kelly, Sandi L. Pruitt, Joanne Wolfe, Kira Bona, Puja J. Umaretiya   +13 more
wiley   +1 more source

Whole exome sequencing: a new era in prenatal diagnostics

Journal of Translational Medicine
Background Advances in bioinformatics have revealed the potential of whole exome sequencing (WES) for copy number variations (CNVs) detection. This study aimed to evaluate whether WES can replace low pass copy number variation sequencing (CNV-seq) for ...
Panlai Shi, Conghui Wang, Yanjie Xia, Zili Li, Zhi Gao, Xiangdong Kong   +5 more
doaj   +1 more source

Application of metagenomic next-generation sequencing and targeted metagenomic next-generation sequencing in diagnosing pulmonary infections in immunocompetent and immunocompromised patients

Frontiers in Cellular and Infection Microbiology
BackgroundMetagenomic next-generation sequencing (mNGS) technology has been widely used to diagnose various infections. Based on the most common pathogen profiles, targeted mNGS (tNGS) using multiplex PCR has been developed to detect pathogens with ...
Yong Liu, Wencai Wu, Yunping Xiao, Hongyan Zou, Sijia Hao, Yanfang Jiang   +5 more
doaj   +1 more source

Disease modelling using evolved discriminate function [PDF]

, 2003
Precocious diagnosis increases the survival time and patient quality of life. It is a binary classification, exhaustively studied in the literature. This paper innovates proposing the application of genetic programming to obtain a discriminate function ...
Kalganova, T, Werner, J C
core  

Familial hypercholesterolemia: a systematic review of guidelines on genetic testing and patient management [PDF]

, 2017
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death.
Baccolini, Valentina, D'Andrea, Elvira, De Vito, Corrado, Massimi, Azzurra, Migliara, Giuseppe, Rosso, Annalisa, Villari, Paolo   +6 more
core   +2 more sources

A High‐Sensitivity Circulating Nucleic Acid Sequencing Assay for Assessing Treatment Response to Alectinib in a Pediatric Patient With ALK‐Rearranged Non–Small Cell Lung Cancer

Pediatric Blood &Cancer, EarlyView.
Alberto D. Guerra, Nicholas F. Evageliou, Vandana Batra, Kristen L. Dalton, Stephanie Ortel, Usman Ashraf, Tricia R. Bhatti, Lisa J. States, Lea F. Surrey, Theodore W. Laetsch   +9 more
wiley   +1 more source

Financial Burden Associated With Hospitalisation Among Families of Childhood Brain Tumours in Australia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Families of children with cancer experience significant financial strain, even with universal healthcare. Indirect costs, such as productivity losses and non‐medical expenses, are rarely included in economic evaluations, and little is known about how effectively financial aid programmes alleviate this burden. Childhood brain tumours
Megumi Lim, Natalie Bradford, David Brain, Sameera Senanayake, Sanjeewa Kularatna, Kate Young, Christine Cashion, Tim Hassall, Susanna Cramb   +8 more
wiley   +1 more source