Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update
نویسندگان
چکیده
منابع مشابه
Spinal Manifestations of Neurofibromatosis: an Update
Background and Aim: Neurofibromatosis-1(NF-1) is a common genetic condition in children. It is becoming increasingly recognized that in neurofibromatosis, there might be anomalous development of bone with or without any local anomaly of neuro-ectodermal basis. This review was conducted to highlight the different features of spinal disorders in this congenital disease. Methods and Materials: Di...
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Objective Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR). Methods The eccrine sweat function and VT...
متن کاملNeurofibromatosis type 1: modeling CNS dysfunction.
Neurofibromatosis type 1 (NF1) is the most common monogenic disorder in which individuals manifest CNS abnormalities. Affected individuals develop glial neoplasms (optic gliomas, malignant astrocytomas) and neuronal dysfunction (learning disabilities, attention deficits). Nf1 genetically engineered mouse models have revealed the molecular and cellular underpinnings of gliomagenesis, attention d...
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The endothelium plays a vital role in maintaining circulatory homeostasis by the release of relaxing and contracting factors. Any change in this balance may result in a process known as endothelial dysfunction that leads to impaired control of vascular tone and contributes to the pathogenesis of some cardiovascular and endocrine/metabolic diseases. Reduced endothelium-derived nitric oxide (NO) ...
متن کاملEndocrine implications of neurofibromatosis 1 in childhood.
In 1882, von Recklinghausen described a group of patients with multiple tumors arising from the 'endoneurium' of peripheral nerves, and called them 'neurofibromas'. The term von Recklinghausen disease was used up to the end of the 20th century, when the gene of neurofibromatosis (NF1) was cloned on chromosome 17q11.2. The gene product is a cytoplasmic protein termed neurofibromin, regulating pr...
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ژورنال
عنوان ژورنال: Acta Medica Marisiensis
سال: 2016
ISSN: 2247-6113
DOI: 10.1515/amma-2016-0003