Results 51 to 60 of about 241,233 (172)

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other embryonal tumors

Brain Pathology, EarlyView.
Resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other CNS embryonal tumors are provided. Abstract WHO CNS5 mandates integrated histo‐molecular classification of medulloblastomas (MBs) and other CNS embryonal tumors. However, advanced molecular diagnostics remain inaccessible in many low‐ and lower‐middle‐
Chitra Sarkar, Maysa Al‐Hussaini, Vani Santosh, Vaishali Suri, Sung‐Hye Park, Yue‐Shan Piao, Tarik Tihan, Ho‐Keung Ng, Michael Buckland, Rakesh Jalali, Yonehiro Kanemura, Pieter Wesseling, Takashi Komori   +12 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

European Journal of Case Reports in Internal Medicine, 2021
22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia,
Melissa Elise van der Meijs, Dave Henri Schweitzer, Henk Boom   +2 more
doaj   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source

Case Report: Challenging Otologic Surgery in Patients With 22q11.2 Deletion Syndrome

Frontiers in Surgery, 2020
Patients with 22q11.2 deletion syndrome frequently have conductive hearing loss and/or chronic otitis media. Otologic surgery is often opted for. We present two patients undergoing otologic surgery. This case report outlines the typical otologic surgical
Emmy Verheij, Emmy Verheij, Laura M. Markodimitraki, Laura M. Markodimitraki, Robert J. Stokroos, Robert J. Stokroos, Hans G. X. M. Thomeer, Hans G. X. M. Thomeer   +7 more
doaj   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Complement Activation in 22q11.2 Deletion Syndrome [PDF]

, 2020
The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births.
Øverland, Torstein, Schjalm, Camilla, Lima, Kari, Mollnes, Tom Eirik, Aresvik, Dina Mikhailovna, Grinde, Dina, Abrahamsen, Tore G   +6 more
core   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Coexistence of Suspected Tetralogy of Fallot With Absent Pulmonary Valve and Dextrocardia in Pre‐Gestational Diabetes Mellitus: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Early fetal echocardiography and serial surveillance are crucial in pregnancies complicated by pregestational diabetes. Tetralogy of Fallot with absent pulmonary valve syndrome may cause progressive cardiomegaly, ventricular hypertrophy, hydrops, and fetal demise.
Alireza Golbabaei, Vida Kahani, Marzieh Mousivand   +2 more
wiley   +1 more source

Persistent Fifth Aortic Arch Associated with 22q11.2 Deletion Syndrome

Journal of the Formosan Medical Association, 2006
Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent ...
Meng-Luen Lee
doaj   +1 more source