Neurofibromatosis type 1

Neurofibromatosis type 1 is a neurocutaneous genetic disorder caused by mutations in the NF1 gene, resulting in the formation of benign tumors called neurofibromas. The most common type of tumor seen in patients with neurofibromatosis type 1 is the slow-growing and benign neurofibroma, with a subtype called plexiform neurofibroma being particularly common and causing pain, functional impairment, and cosmetic disfigurement.

4p vitiki 30-01-2024 2 2   Download

Neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome, occurs when NF1 gene variants result in loss of neurofibromin, a negative regulator of RAS activity. Plexiform neurofibromas (PN) are peripheral nerve sheath tumors that develop in patients with NF1 and are associated with substantial morbidity and for which, until recently, the only treatment was surgical resection.

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Malignant peripheral nerve sheath tumors (MPNSTs) are rare and can be associated with type 1 neurofibromatosis. They are rarely located at the mediastinum, most often at the posterior mediastinal compartment or the paravertebral gutters. MPNSTs of the anterior mediastinum arising from the phrenic nerve are exceptional.

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U sợi thần kinh type 1 (neurofibromatosis type 1 - NF1) là bệnh di truyền trội trên nhiễm sắc thể (NST) thường do đột biến gen neurofibromin (NF1) gây ra. Bệnh có biểu hiện đặc trưng là các khối u ở mô thần kinh, thường gặp trên da. Nghiên cứu với mục tiêu mô tả đặc điểm lâm sàng, gia hệ, kết quả xét nghiệm gen NF1 và tư vấn di truyền của ba ca bệnh NF1. Nghiên cứu qua khai thác phả hệ, tiền sử, bệnh sử, thăm khám lâm sàng sơ bộ.

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Jaffe-Campanacci is a rare syndrome characterised by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, as well as some features of type 1 neurofibromatosis.

6p viannito2711 20-04-2021 10 2   Download

Neurofibromatosis type 1 (NF1) is a rare multisystem genetic disorder. During the course of the disease it can be rarely complicated with pulmonary hypertension (PH) which confers a dismal prognosis.

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Spinal deformities constitute one of the most common types of manifestations of neurofibromatosis type-1 (NF-1), which can lead to either dystrophic or non-dystrophic early-onset scoliosis (EOS). Surgical treatment for EOS with NF-1 is challenging, and the outcomes have rarely been reported.

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Anticancer compound 3-bromopyruvate (3-BrPA) suppresses cancer cell growth via targeting glycolytic and mitochondrial metabolism. The malignant peripheral nerve sheath tumor (MPNST), a very aggressive, therapy resistant, and Neurofibromatosis type 1 associated neoplasia, shows a high metabolic activity and affected patients may therefore benefit from 3-BrPA treatment.

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Gender-based differences in disease onset in murine models of malignant peripheral nerve sheath tumor (MPNST) and in patients with Neurofibromatosis type-1-(NF-1)-associated or spontaneous MPNST has not been well studied.

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Neurofibromatosis 1 is one of the most common genetic diseases in humans, presenting with multiple neurofibromas and an increased risk of various benign and malignant tumors, including breast cancer.

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Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdominal tumors of three types in very rare.

5p vidhaka2711 31-07-2020 14 1   Download

NF1 (Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs).

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Pediatric low-grade gliomas (PLGG) are the most frequent brain tumors in children. Up to 50% will be refractory to conventional chemotherapy. It is now known that the majority of PLGG have activation of the MAPK/ ERK pathway.

9p vikuala271 13-06-2020 14 1   Download

Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-old boy.

5p viorochimaru2711 29-05-2020 18 1   Download

The mid-long term outcomes of posterior spinal fusion in pediatric neurofibromatosis type 1 (NF-1) patients are rarely reported, so does the effectiveness of itsorthopeidc maintenance function.

9p vivalanbo2711 19-03-2020 10 1   Download

In Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible location of such lesions, the spinal cord, which we have defined as medullary Unidentified Bright Objects.

5p vidr2711 19-02-2020 9 1   Download

Thường gặp, 1/500-1000 tử thiết Thường do dính 2 cực dưới thận (90%) Dễ nhiễm trùng, tạo sỏi Thường kết hợp với HC turner (monosomy X) Trisomy 18 Neurofibromatosis type 1 Bất sản hậu môn trực tràng Sarcom cơ vân

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Many disease-causing splicing mutations described in the literature produce changes in splice sites (SS) or in exon-regulatory sequences. The delineation of these splice aberrations can provide important insights into novel regula-tion mechanisms. In this study, we evaluated the effect of patient variations in neurofibromatosis type 1 (NF1) exon 29 and its 5¢SS surrounding area on its splicing process.

14p viettel02 22-02-2013 29 2   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Liposarcoma of the forearm in a man with type 1 neurofibromatosis: a case report

5p thulanh30 19-12-2011 50 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Occipital peripheral nerve stimulation in the management of chronic intractable occipital neuralgia in a patient with neurofibromatosis type 1: a case report...

6p thulanh26 08-12-2011 50 3   Download