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neurofibromatoses/obezitate

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ArticoleStudii cliniceBrevete
Pagină 1 din 21 rezultate

Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1.

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Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time-dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. To clarify the natural course and

Neurofibromatosis: a cause of prepubertal gynecomastia.

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BACKGROUND Atypical presentations of gynecomastia not associated with obesity are often underappreciated. Unilateral manifestation, prepubertal onset, and a history of associated disorders may contribute to a unique clinical presentation for which the diagnosis and management may remain uncertain.

Extensive gliomas of visual tract in a patient of neurofibromatosis-I.

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Although bilateral optic nerve gliomas are commonly found in patients with neurofibromatosis I, extensive gliomas involving the entire visual tracts, bilaterally are relatively rare. Usually the optic radiations are spared. We report a case of a 2-year-old child with extensive disease of bilateral

High prevalence of elevated blood pressure among children with neurofibromatosis type 1.

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BACKGROUND Neurofibromatosis type 1 (NF1) is a common neurocutaneous disease characterized by café-au-lait spots, axillary and inguinal freckling, neurofibromas, and optic gliomas. Increased rates of hypertension (HTN) were reported among NF1 patients, however, the prevalence of HTN and pre-HTN in

Body composition in adults with neurofibromatosis type 1.

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UNASSIGNED To evaluate the body composition and nutritional status of neurofibromatosis type 1 (NF1) adult patients. UNASSIGNED A cross-sectional study of 60 NF1 patients (29 men, 31 women) aged ≥ 18 years who were evaluated from September 2012 to September 2013 in a Neurofibromatosis Outpatient

Nf1 Heterozygous Mice Recapitulate the Anthropometric and Metabolic Features of Human Neurofibromatosis Type 1

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Neurofibromatosis type 1 (NF1) is a heritable cancer predisposition syndrome resulting from mutations in the NF1 tumor suppressor gene. Genotype-phenotype correlations for NF1 are rare due to the large number of NF1 mutations and role of modifier genes in manifestations of NF1; however, emerging

Neurofibromatosis type 1 growth charts.

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Growth abnormalities such as macrocephaly and short stature have been described and are considered a consistent finding in neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders in man. We present here a clinical study on the growth profile of a sample of NF1 patients

Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.

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Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations

Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Glioma
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OBJECTIVE Children with optic pathway glioma (OPG) face sequelae related to tumour location and treatment modalities. We aimed to assess the prevalence of hypothalamic-pituitary dysfunctions in children with neurofibromatosis type 1 (NF1) and OPG who did not receive radiotherapy or surgical

Multiple benign symmetric lipomatosis -- a differential diagnosis of obesity.

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Benign symmetrical lipomatosis (BSL), or Madelung's disease, is a rare disease characterized by the progressive growth of diffuse, painless, non-enveloped symmetric lipomas. The etiology of this disease remains unknown, although it was associated in the medical literature with alcohol and nicotine

Central precocious puberty in Boston boys: A 10-year single center experience.

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Recent studies in the US and abroad suggest that boys are undergoing puberty at a younger age. It is unknown if this secular trend extends to boys with central precocious puberty (CPP), who sit at the extreme end of the pubertal spectrum, and if neuroimaging should remain a standard diagnostic

A challenging case of laparoscopic synchronous bilateral adrenalectomy for Cushing's disease. Case report.

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Laparoscopic adrenalectomy is a treatment option in patients with Cushing's syndrome. Preoperative comorbities as well as surgical and anesthesiological difficulties can make the procedure challenging.We present the case of a 53-year-old obese man diagnosed

Diagnosis and treatment of osteopenic fractures in children.

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Osteopenic fractures occur in children every day. At times the osteopenic nature of these fractures is painfully obvious, as in neurofibromatosis and osteogenesis imperfecta, while in many other situations overt osteopenia does not declare itself, such as in normal and obese children. Normal
BACKGROUND In the population of children and adolescents, epilepsy affects 0.5-1% of individuals; approximately 3% of general population suffer from non-epileptic seizures, while endocrine disorders are several times more frequent. All of the above factors result in a relatively common
Case report.We present a case of malignant peripheral nerve sheath tumor (MPNST) presenting as neuropathic pain in the setting of lumbar scoliosis and spinal stenosis. Most peripheral nerve sheath tumors are benign, and malignant cases are more commonly
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