Results 81 to 90 of about 38,064 (238)
Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome
Food Biomacromolecules, EarlyView.Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley +1 more source
NEUROFIBROMATOSIS TYPE 1 IN A 32 YEAR OLD FEMALE: AN INTERESTING CASE REPORT
National Journal of Medical Research, 2014 Neurofibromatosis (NF) is characterized by neuroectodermal tumours arising within multiple organs withautosomal-dominant inheritance. Neurofibromatosis type I (NF-1), known as well as Recklinghausen’s disease, is themost common type of the disease ...
Subrata Chakrabarti
doaj
Elephantiasis Neuromatosa in Neurofibromatosis Type I Mimicking Venocapillary Malformation
International Journal of Anatomy Radiology and Surgery, 2019 Elephantiasis neuromatosa is a rare clinical manifestation associated with the Neurofibromatosis Type 1 (NF1). A 14-year-old male presented with progressive non-tender swelling of left arm and forearm since birth, axillary freckling, café-au-lait macules
RISHIKANT SINHA +4 more
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 +3 more
core +1 more source
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 +3 more
wiley +1 more source
Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]
, 2016 This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core +1 more source
Analysis of short-term blood pressure variability in pheochromocytoma/paraganglioma patients [PDF]
, 2019 Data on short-term blood pressure variability (BPV), which is a well-established cardiovascular prognostic tool, in pheochromocytoma and paraganglioma (PPGL) patients is still lack and conflicting.
Bisogni, V. +14 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 +5 more
wiley +1 more source
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, +2 more
core +1 more source
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
core +2 more sources