Results 141 to 150 of about 7,289,232 (294)

Surgical Complications From Foreign Body Ingestion in Paediatric Age: An Italian Retrospective Multicentre Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To retrospectively collect clinical data of children affected by surgical complications resulting from foreign body ingestion, in order to describe the features of the involved foreign bodies and to analyse the different surgical complications related to their ingestion.
Alessia Salatto, Andrea Chiaro, Maria Teresa Illiceto, Francesca Destro, Filippo Torroni, Paolo Orizio, Enrico Felici, Barbara Parma, Valentina Giorgio, Maria Boccia, Ludovica Carangelo, Maria Giovanna Grella, Giovanni Di Nardo, Paolo Quitadamo   +13 more
wiley   +1 more source

Statistical power in UK genetic syndrome research; evidence from studies of Down syndrome, Fragile X syndrome and Williams syndrome as model syndrome groups

British Journal of Developmental Psychology, EarlyView.
Abstract Research on genetic syndromes is vital to our understanding of how development unfolds, but the rarity of genetic syndromes can mean that studies are carried out with small sample sizes. Small sample sizes can reduce the statistical power of a study to produce reliable and replicable results.
Emily K. Farran, Sophia Alexiou, Henrik Danielsson, Camilla Orefice, Laura Cristescu, Elizabeth Pellicano, Jo Van Herwegen, Gaia Scerif   +7 more
wiley   +1 more source

Exploratory Study on the Potential Moderating Effects of Protective and Risk Factors on the Negative Impact of Parental Stress on Family Quality of Life in Parents of Children With Autism (CLWA)

Child &Family Social Work, EarlyView.
ABSTRACT Chinese caregivers of autistic children report heightened parental stress, which in turn can negatively influence their family quality of life (FQoL). To better support the quality of life of Chinese caregivers of autistic children, the present study investigated the relationship between parental stress and FQoL and the moderating roles of ...
Wing‐Chee So, Xue‐Ke Song, Ka‐Ho Lau, Ho‐Wai Lam, Sze‐Man Chan   +4 more
wiley   +1 more source

Sensitive detection systems for infectious agents in xenotransplantation*

Xenotransplantation, EarlyView., 2020
Abstract Xenotransplantation of pig cells, tissues, or organs may be associated with transmission of porcine microorganisms, first of all of viruses, to the transplant recipient, potentially inducing a disease (zoonosis). I would like to define detection systems as the complex of sample generation, sample preparation, sample origin, time of sampling ...
Joachim Denner
wiley   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Emerging pharmacologic treatment options for fragile X syndrome

, 2015
Tori L Schaefer, Matthew H Davenport, Craig A Erickson Division of Child and Adolescent Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA Abstract: Fragile X syndrome (FXS) is the most common single gene cause of ...
Schaefer TL, Erickson CA, Davenport MH
core  

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1‐ and SYNGAP1‐related disorders

Developmental Medicine &Child Neurology, EarlyView.
Aim To determine the interrater reliability and stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS)/Mini‐MACS, and Communication Function Classification System (CFCS) in individuals with STXBP1‐ and SYNGAP1‐related disorders.
Samuel R. Pierce, Julie M. Orlando, Kristin G. Cunningham, Sarah M. Ruggiero, Michael C. Kaufman, Jillian L. McKee, Ingo Helbig   +6 more
wiley   +1 more source

Sleep profiles in individuals with rare neurogenetic syndromes

Developmental Medicine &Child Neurology, EarlyView.
Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes, Thomas W. Frazier, Antonio Y. Hardan, Lacey Chetcuti, Samuel J. R. A. Chawner, Emily Spackman, Mirko Uljarević, Emma K. Baker   +7 more
wiley   +1 more source

EMG chacterizationn and processing in fragile X syndrome children during gait

openQuesta tesi si concentra sulla caratterizzazione e analisi del segnale elettromiografico (EMG) durante il cammino nei bambini affetti da sindrome di X fragile.
MARINO, VALENTINA ALICE
core  

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source