Vestibular schwannoma appears to be very rare in a region of Sub-Saharan Africa.

CONCLUSIONS: The findings strongly suggest that VS is very rare in the study population. It is hoped that other centers in Africa and beyond would perform similar studies. PMID: 28840075 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research

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This article provides an overview of CALMs, followed by a summary of several conditions associated with CALMs ranging from the most common (neurofibromatosis type 1) to rare, ring chromosome syndromes.
Source: Journal of Pediatric Health Care - Category: Pediatrics Authors: Tags: Continuing Education Source Type: research
We present the case of a woman with a de novo mutation in the NF2 gene who later developed MS. In addition, we found a significantly higher count of T cells in a laryngeal schwannoma of this patient as compared to a schwannoma removed from a NF2 patient without MS. This finding correlated with a higher growth rate in the case of NF+MS.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
CONCLUSIONS: Fluorescein was demonstrated to be a feasible, safe, and helpful intraoperative adjunct to better identify and distinguish PNSTs from intact functional nerves, with a possible impact on tumor resection, particularly in diffuse neurofibromas. PMID: 31812148 [PubMed - as supplied by publisher]
Source: Journal of Neurosurgery - Category: Neurosurgery Authors: Tags: J Neurosurg Source Type: research
Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Neurofibromatosis-1 (NF-1) has a known increased risk of malignancy with rhabdomyosarcoma occurring in up to 6% of patients. Here we report on an 8-year-old male with a history of NF-1and previously treated stage 3, group III bladder/prostate embryonal rhabdomyosarcoma (diagnosed at 18 months old) who presented with penile swelling concerning for priapism. Imaging and subsequent biopsy confirmed embryonal rhabdomyosarcoma of the penile corporal bodies. Penile rhabdomyosarcoma is exceedingly rare, with less than 15 case reports in the literature.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research
ConclusionsA delay in diagnosis or lack of a diagnosis in pheochromocytoma and paraganglioma may increase the perioperative morbidity and mortality risk due to excess catecholamine secretion. Therefore, routine pheochromocytoma and paraganglioma screening preoperatively in patients with neurofibromatosis type 1 is very important.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
We report a case of child with massive pelvic and lower limb NF1 associated PN who responded to selumetinib, a mitogen-activated protein kinase kinase enzymes (MEK1/2) inhibitor.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Short Communication Source Type: research
Neurofibromatosis type 1 (NF1) is generally a benign disease but has the potential for rare and fatal complications. Vascular signs and symptoms associated with NF1 are reported in only 1 –3% of patients. Pulmonary complications have been rarely described in the literature and spontaneous rupture of a major thoracic artery is, however, extremely uncommon.
Source: The Journal of Emergency Medicine - Category: Emergency Medicine Authors: Tags: Clinical Communications: Adult Source Type: research
Contributors : Azadeh Amirnasr ; Robert M Verdijk ; Patricia F van Kuijk ; Pinar Kartal ; Anne L Vriends ; Pim J French ; Martin E van Royen ; Walter Taal ; Stefan Sleijfer ; Erik A WiemerSeries Type : Expression profiling by RT-PCROrganism : Homo sapiensMalignant peripheral nerve sheath tumors (MPNST) are aggressive cancers that occur spontaneously (sporadic MPNST) or from pre-existing, benign plexiform neurofibromas in neurofibromatosis type 1 (NF1) patients. MPNSTs metastasize easily, are resistant to therapeutic intervention and are frequently fatal. The molecular changes underlying the transition to malignancy in the ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by RT-PCR Homo sapiens Source Type: research
Contributors : Azadeh Amirnasr ; Robert M Verdijk ; Patricia F van Kuijk ; Pinar Kartal ; Anne L Vriends ; Pim J French ; Martin E van Royen ; Walter Taal ; Stefan Sleijfer ; Erik A WiemerSeries Type : Expression profiling by RT-PCROrganism : Homo sapiensMalignant peripheral nerve sheath tumors (MPNST) are aggressive cancers that occur spontaneously (sporadic MPNST) or from pre-existing, benign plexiform neurofibromas in neurofibromatosis type 1 (NF1) patients. MPNSTs metastasize easily, are resistant to therapeutic intervention and are frequently fatal. The molecular changes underlying the transition to malignancy in the ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by RT-PCR Homo sapiens Source Type: research
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