neurofibromatoses/نقص الأكسجة

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A 63-Year-Old Woman With Neurofibromatosis Type 1 and Pulmonary Hypertension With Worsening Hypoxemia.

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A 63-year-old woman with a history of neurofibromatosis type-1 (NF-1) and pulmonary arterial hypertension (PAH) thought to be secondary to the NF-1 presented with a few weeks of worsening dyspnea on exertion. She took no medications other than sildenafil for her pulmonary hypertension (PH). She

Neurofibromatosis associated with central alveolar hypoventilation syndrome during sleep.

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We describe polygraphic respiratory alterations during sleep in a child with neurofibromatosis. The patient, a four-year-old boy, had a medical history of neurofibromatosis and recurrent acute respiratory failure responsive to mechanical ventilation. All-night polysomnography showed severe nocturnal

Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1.

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Although previously reported, the existence of a neurofibromatosis (NF)-associated diffuse lung disease (DLD) still lacks solid evidence. We report a case of a 68-year-old non-smoking female with NF1, pre-capillary pulmonary hypertension (PH) and an interstitial lung pattern. Initial findings

Multiple pulmonary neurofibromas with hypoxemia. Occurrence due to pulmonary arteriovenous shunts within the tumors.

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A 62-year-old woman with multiple neurofibromas of the lung was found to have severe hypoxemia due to right-to-left shunting within the tumors. Pulmonary angiograms demonstrated that the major area of shunting was in a large tumor mass in the right lower lobe. Pathologically the neurofibromas were

A malignant peripheral nerve sheath tumor of the mediastinum in a patient with neurofibromatosis type 1: report of a case.

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Malignant peripheral nerve sheath tumor (MPNST) is rare, but its association with neurofibromatosis type 1 (NF1) is well known. A 56-year-old man with NF1 was referred to our hospital for investigation of dyspnea. Computed tomography showed a huge mass occupying the right thorax and invading the

Phenotype and Outcomes of Pulmonary Hypertension Associated with Neurofibromatosis Type 1

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Rationale: Pulmonary hypertension associated with neurofibromatosis type 1 (PH-NF1) is a rare and largely unknown complication of NF1. Objectives: To describe characteristics

Overexpression of the natural antisense hypoxia-inducible factor-1alpha transcript is associated with malignant pheochromocytoma/paraganglioma.

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Paragangliomas (PGLs) have widely different metastastic potentials. Two different types of PGLs can be defined by expression profiling. Cluster 1 PGLs exhibit VHL and/or succinate dehydrogenase (SDH) mutations and a pseudohypoxic phenotype. RET and neurofibromatosis type 1 (NF1) mutations occur in

Difference in the hypoxic immunosuppressive microenvironment of patients with neurofibromatosis type 2 schwannomas and sporadic schwannomas.

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Neurofibromatosis type 2 (NF2) patients uniformly develop multiple schwannomas. The tumor-microenvironment (TME) is associated with hypoxia and consists of immunosuppressive cells, including regulatory T cells (Tregs) and tumor-associated macrophages (TAMs). The hypoxic TME of NF2

Depletion of the novel p53-target gene carnitine palmitoyltransferase 1C delays tumor growth in the neurofibromatosis type I tumor model.

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Despite the prominent pro-apoptotic role of p53, this protein has also been shown to promote cell survival in response to metabolic stress. However, the specific mechanism by which p53 protects cells from metabolic stress-induced death is unknown. Earlier we reported that carnitine

Immunohistochemical characterization of Renaut bodies in superficial digital nerves: further evidence supporting their perineurial cell origin.

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Renaut bodies are well-demarcated cylindrical (circular in cross section) hyaline structures attached to the inner layer of the perineurium that can be found in normal and pathological nerves of various animals and humans. They are composed of spidery fibroblasts and perineurial cells immersed in an

Plasticity and injury in the developing brain.

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The child's brain is more malleable or plastic than that of adults and this accounts for the ability of children to learn new skills quickly or recovery from brain injuries. Several mechanisms contribute to this ability including overproduction and deletion of neurons and synapses, and

Trimethoprim/Sulfamethoxazole-Induced Severe Lactic Acidosis: A Case Report and Review of the Literature.

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Propylene glycol (PG) is used as a solvent in numerous medications, including trimethoprim/sulfamethoxazole (TMP/SMX) and lorazepam, and is metabolized in the liver to lactic acid. Cases of lactic acidosis related to PG toxicity have been described and always involved large doses of benzodiazepines

B/L Basal Ganglia Lesions in a Child Leading to a Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency.

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Bilateral basal ganglia lesions are a common non-specific finding seen in many diseases. One of the differential diagnoses for it, in a child, is kernicterus occurring due to hyperbilirubinemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common cause of severe hyperbilirubinemia. A

Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy

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Purpose: To describe the unusual presentation and the treatment course of a case of bilateral optic nerve head reactive retinal astrocytic tumor (RRAT). Observations: A 29

[Genetics of neuroendocrine tumours, hereditary tumour syndromes].

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Neuroendocrine tumours occur in some hereditary tumour syndromes, and the molecular pathophysiological mechanisms involved in these are also important in their sporadic counterparts which representing the majority of neuroendocrine tumours. These syndromes include multiple endocrine neoplasia type

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