Results 71 to 80 of about 33,512 (212)

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

A case of familial neurofibromatosis in pediatric practice

Alʹmanah Kliničeskoj Mediciny, 2018
The article describes a  clinical case of familial neurofibromatosis. Neurofibromatosis type  1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin, T. N. Buchkova, G. I. Chebotareva, N. B. Styazhkina   +3 more
doaj   +1 more source

Validation of the German version of Infants and Toddlers Dermatology Quality of Life (InToDermQoL) Questionnaire

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler, Neuza da Silva Burger, Matthias Augustin, Hagen Ott, Sanna Hoffmann, Regina Fölster‐Holst, Maria Baumeister, Petra Staubach, Rachel Sommer   +8 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

Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination

Case Reports in Gastrointestinal Medicine, 2012
Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix.
Tine Gregersen, Nanna Holt, Henning Gronbaek, Ida Vogel, Lars J. Jørgensen, Klaus Krogh   +5 more
doaj   +1 more source

Neurofibromatosis Type 1 and Sporadic Optic Gliomas

Pediatric Neurology Briefs, 2002
The natural history of sporadic optic gliomas was compared with that of optic gliomas associated with neurofibromatosis type 1 (NF1) in a study using a Children’s Tumor Registry (CTR) and an NF1 Database (NF1DB) at St Mary’s Hospital, Manchester, UK.
J Gordon Millichap
doaj   +1 more source

Beyond protective factors and normal IQ in preterm children: More executive disorders than expected

Journal of Neuropsychology, EarlyView.
Abstract Executive functions (EF) are vulnerable in preterm children. Owing to methodological issues, inconsistent findings have left some questions unresolved. This study implemented a theory‐guided, integrative EF assessment in preterm children. We also examined the impact of perinatal and sociodemographic features on EF disorder.
Olivier Cadeau, Jean‐Baptiste Muller, Amanda Guerra, Cécile Boscher, Anne Frondas, Jean‐Christophe Rozé, Cyril Flamant, Clair‐Yves Boquien, Laure Simon, Arnaud Roy   +9 more
wiley   +1 more source

An example of an alternative method of communication of a patient with neurofibro-matosis in the socio-cultural environment [PDF]

Саратовский научно-медицинский журнал, 2014
The article presents a case of severe, systemic disease neurofibromatosis type 1 inherited in an autosomal dominant pattern, the patient 62 years. Summarized data of the etiology, pathogenesis, clinical picture.
Eremina M.G., Muratova D.S., Utz S.R.
doaj  

Treatment of ADHD in Neurofibromatosis Type 1

Pediatric Neurology Briefs, 2002
The cognitive and behavioral problems and effects of treatment of attention deficit hyperactivity disorder (ADHD) in 20 children with NF1 and ADHD were compared to 26 control children with NF1, 14 controls with ADHD, and 14 controls with normal ...
J Gordon Millichap
doaj   +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