Results 21 to 30 of about 81,955,644 (156)

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +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).
Amanjit Bahl, Gupta, A, Sandeep Bansal, Sanjeev Bhagat, Ashok Gupta, Bahl, A, Bansal, S, Bhagat, S   +7 more
core  

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Regulatory harmonization: Evolution, globalization and future directions

British Journal of Clinical Pharmacology, EarlyView.
Regulatory harmonization has become an increasingly important and accepted approach to streamline regulatory review processes and expedite access to safe, effective and high‐quality medicines globally. This review explores the evolution and current status of regulatory harmonization, convergence and reliance initiatives.
Orin Chisholm, Elaine Y. L. Blair, Christine Y. Lu   +2 more
wiley   +1 more source

"Avaliação da expressão de genes associados ao sistema imune durante os estágios de desenvolvimento do camarão Litopenaeus vannamei" [PDF]

, 2013
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Biologia Celular e do Desenvolvimento, Florianópolis, 2013.Os cultivos de camarão, tanto nas fazendas quanto nas larviculturas ...
Quispe Gaspar, Ruth Liliám
core  

Embarazada con neurofibromatosis tipo 1

Revista de Ciencias Médicas de Pinar del Río, 2016
La neurofibromatosis tipo 1 es una enfermedad genética, de transmisión autosómica, dominante, con 100% de penetrancia y expresividad variable, correspondiendo la mitad de los casos a mutaciones de novo.
Amado Antonio García Odio, Yanisel Rives González, Ana Ivis Reina Arroyo, Daymeris Álvarez Bolívar   +3 more
doaj  

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Loss of Schwann cell’s normal rhythmic core clock gene expression and gain of rhythmic expression of oncogenic driver genes in malignant NF1-associated peripheral nerve sheath tumor

Molecular & Cellular Oncology
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor syndrome caused by pathogenic variants in the NF1 gene. Beside tumor formation, patients often have sleep disturbances, suggesting circadian involvement.
Sandra Leisz, Antonio Pelligrino, Saskia Fritzsche, Merle Wiegers, Markus Wösle, Christian Linke, Swanhild Lohse, Daniel Tippner, Christian Scheller, Christian Strauss, Eva Ehrentreich-Förster, Faramarz Dehghani, Stanislav Sys, Erik Maronde, Anja Harder   +14 more
doaj   +1 more source

Raising resilience: A parenting intervention for families affected by childhood epilepsy

Epilepsia, EarlyView.
Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman, Bianca C. Bondi, Chantal C. Cheung, Heather Olivieri, Tricia S. Williams   +4 more
wiley   +1 more source

Gastrointestinal Manifestations in Type 1 Neurofibromatosis. A Case Report

, 2020
La neurofibromatosis tipo 1, o enfermedad de von Recklinghausen, es un desorden neurocutáneo hereditario con compromiso gastrointestinal en el 5-25% de los pacientes, el cual se presenta posterior a las manifestaciones cutáneas. Sólo 5% presenta síntomas
González, Nicolás, Otero, Martha, Pontet, Yesica, Cubas, Santiago, Méndez, Daniela, Oricchio, Martín, Muñiz, Felipe   +6 more
core   +3 more sources