neurofibromatoses/epuizare

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A case report of acute myeloid leukemia and neurofibromatosis 1.

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We report a case of a 65-year old patient affected by neurofibromatosis 1, documented by the presence of germ-line mutation on the NF1 gene, who developed various hyperproliferative malignant and benign diseases. He was brought to our attention for the diagnosis of acute myeloid leukemia revealed by

Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma.

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OBJECTIVE To assess the health-related quality of life of children with neurofibromatosis type 1-related plexiform neurofibromas (pNF) using a battery of patient-reported outcome measures selected based on a conceptual framework derived from input by patients, parents, and clinicians regarding the

First use of patient reported outcomes measurement information system (PROMIS) measures in adults with neurofibromatosis.

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The patient reported outcomes measurement information system (PROMIS) provides clinicians and researchers access to reliable, validated measures of physical, mental, and social well-being. The use of PROMIS can facilitate comparisons among clinical subpopulations and with the U.S. general

Multicenter, Prospective, Phase II and Biomarker Study of High-Dose Bevacizumab as Induction Therapy in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannoma.

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Bevacizumab treatment at 7.5 mg/kg every 3 weeks results in improved hearing in approximately 35%-40% of patients with neurofibromatosis type 2 (NF2) and progressive vestibular schwannomas (VSs). However, the optimal dose is unknown. In this multicenter phase II and biomarker study, we

[Diagnostic and therapeutic problems of congenital pseudarthrosis of the lower leg in children].

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So-called pseudarthrosis of the lower leg is a rare condition whose treatment entails major therapeutic problems. The first symptoms of this disease are structural changes thinning, and sclerosis of the tibia and fibula, as well as varus and antecurvation malposition? of the axis. In all of the

Lipid storage myopathies: Current treatments and future directions.

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Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. An early diagnosis is

Incidental small ampullary somatostatinoma treated with ampullectomy 2 years after diagnosis.

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Somatostatinomas are rare tumors; ampullary somatostatinomas are very rare. We report a case of a small pure somatostatin-producing neuroendocrine tumor of ampulla of Vater in a 54-year-old woman with neither neurofibromatosis nor somatostatinoma syndrome, "incidentally" discovered during an

Temozolomide is active in childhood, progressive, unresectable, low-grade gliomas.

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OBJECTIVE To assess the activity and tolerability of temozolomide in children with progressive low-grade gliomas (LGGs). METHODS The authors reviewed the records of 13 children (6 months to 19 years old) with progressive LGGs and magnetic resonance imaging evidence of unresectable tumors who were

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