Results 71 to 80 of about 38,242 (241)

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  

Genomic profiling of malignant peritoneal mesothelioma reveals recurrent alterations in epigenetic regulatory genes BAP1, SETD2, and DDX3X. [PDF]

, 2017
Malignant mesothelioma is a rare cancer that arises from the mesothelial cells that line the pleural cavity and less commonly from the peritoneal lining of the abdomen and pelvis.
Bastian, Boris C, Chen, Yunn-Yi, Garg, Karuna, Joseph, Nancy M, Nasr, Anthony, Onodera, Courtney, Rabban, Joseph T, Solomon, David A, Talevich, Eric, Yeh, Iwei, Zaloudek, Charles   +10 more
core   +2 more sources

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 I - A Pigmentary Anomaly

Indian Journal of Dermatology, 2004
We describe two cases of neurofibromatosis type I with innumerable pigmented macules involving whole integument including palms and soles with only occasional neurofibromas and seek to differentiate the condition from other genodermatoses with pigmentary
Khandpur Sujay, Sharma Vinod K
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, PRANAV KUMAR SANTHALIA, SUBHASH KUMAR, PREM KUMAR, S APARNA   +4 more
doaj   +1 more source

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

International Journal of Cancer, EarlyView.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang, Flavia Paternostro, Agnieszka Wozniak, Lore De Cock, Luna De Sutter, Kimberly Verbeeck, Ulla Vanleeuw, Daniël Gorgels, Che‐Jui Lee, Raf Sciot, Patrick Schöffski   +10 more
wiley   +1 more source

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

Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]

, 2019
We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C, Fernandez, Karen S, Hardee, Steven, Horvai, Andrew, Shah, Avanthi Tayi, Sweet-Cordero, E Alejandro, Turski, Michelle L   +6 more
core  

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

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