Results 91 to 100 of about 62,771 (244)
Orbitotemporal Neurofibromatosis: Case Report
Case Reports in Ophthalmological Medicine, 2012 Plexiform neurofibromas occur in about 60% of neurofibromatosis type 1(NF-1) patients and can lead to severe morbidity by disfigurement or compression of vital structures. Moreover, these tumors can undergo malignant transformation.
Mahalakshmi Balasubramanyam +2 more
doaj +1 more source
Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review
British Journal of Pharmacology, EarlyView.Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos +16 more
wiley +1 more source
ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO
Revista Chilena de Obstetricia y Ginecología, 2002 La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M. +2 more
doaj
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
Clinical Genetics, EarlyView.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +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
Plexiform neurofibromatosis type 1
Indian Journal of Medical Research, 2016 A 16 yr old boy presented to the department of Medicine, All India Institute of Medical Sciences (AIIMS), New Delhi, India, in 2013 with primary cosmetic concern about swelling in the left upper limb which was progressively increasing over the last few years.
Sharma, Surendra K., Sharma, Abhishek
openaire +2 more sources
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 +8 more
wiley +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