Results 81 to 90 of about 25,083,649 (268)

Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study

Orphanet Journal of Rare Diseases, 2022
Background Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described.
S. Legoupil, D. Bessis, F. Picard, S. Mallet, J. Mazereeuw, A. Phan, D. Dupin-Deguine, M. Kalamarides, Research Group of the French Society of Paediatric Dermatology, C. Chiaverini   +9 more
doaj   +1 more source

Neurofibromatosis 1 and 2

Brain Pathology, 1997
Neurofibromatosis (NF) 1 and 2 are multisystem disorders associated with a variety of neoplastic and non‐neoplastic manifestations that typically progress in severity during the lifetime of the affected patient. The importance of appropriately diagnosing these disorders stems from the fact that the natural history of an associated neoplasm, such as a ...
I F, Pollack, J J, Mulvihill
openaire   +3 more sources

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Presenting Symptoms of Neurofibromatosis Type 2

Pediatric Neurology Briefs, 1999
The frequency and mode of presentation of neurofibromatosis type 2 (NF2) was investigated at St Mary’s Hospital, the Royal Manchester Children’s Hospital, and the Manchester Royal Infirmary, Manchester, UK.
J Gordon Millichap
doaj   +1 more source

Dowling-Degos Disease: Case Report and Review of the Literature [PDF]

, 2010
Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Baran, Wojciech, Batycka-Baran, Aleksandra, Burgdorf, Walter H. C., Hryncewicz-Gwozdz, Anita   +3 more
core   +1 more source

Attrition in Cochlear Implant Research: Sociodemographic, Audiologic, and Performance Variables

The Laryngoscope, EarlyView.
In a retrospective review of attrition patterns for participants in a clinical research study, sociodemographic variables were not significantly different between those who elected to withdraw and those who completed the study. Those in the withdrawal group had poorer low‐frequency residual hearing, were less likely to be electric‐acoustic stimulation ...
Amanda D. Sloop, Margaret E. Richter, Samantha P. Scharf, Meredith A. Rooth, Kevin D. Brown, Margaret T. Dillon   +5 more
wiley   +1 more source

Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma. [PDF]

Clin Case Rep
Axial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Pluim Z, Choi JDW, Kakala B, Wong J, Clifton-Bligh R, Sywak M, Howle J.   +6 more
europepmc   +2 more sources

Reproducibility of cognitive endpoints in clinical trials: Lessons from neurofibromatosis type 1 [PDF]

, 2019
OBJECTIVE: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments.
et al,, Gutmann, David H, Payne, Jonathan M   +2 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Alert Cards to improve awareness of an otological emergency

BMJ Open Quality, 2021
Dorothy Halliday, Joshua James Brown, Anne May, Rose Crabtree, Beatrice Emmanouil, Allyson Parry, Samuel Mackeith   +6 more
doaj   +1 more source