Results 91 to 100 of about 86,851 (276)
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
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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
Scientific ReportsTo compare 1D (linear) tumor volume calculations and classification systems with 3D-segmented volumetric analysis (SVA), focusing specifically on their effectiveness in the evaluation and management of NF2-associated vestibular schwannomas (VS).
Isabel Gugel +6 more
doaj +1 more source
Intramedullary gangliogliomas: histopathologic and molecular features of 25 cases [PDF]
, 2016 Gangliogliomas are uncommon glioneuronal tumors, which usually arise in the cerebral hemispheres and occasionally in the brain stem. Gangliogliomas occurring in the spinal cord are extremely rare. In this study, we analyzed the clinical, histopathologic,
ANTONELLI, MANILA +7 more
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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
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
Alert Cards to improve awareness of an otological emergency
BMJ Open Quality, 2021 Dorothy Halliday +6 more
doaj +1 more source
Malignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation [PDF]
, 2010 Malignant peripheral nerve sheath tumors (MPNST’S) of the head and neck comprise 2% to 6% of head and neck sarcomas. These tumors may arise as sporadic variants or in patients with neurofibromatosis (NF).
Bahl, A, Bansal, S, Bhagat, S, Gupta, A
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Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination [PDF]
, 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.
Henning Gronbaek +5 more
core +1 more source
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 +7 more
wiley +1 more source