Association of chromhidrosis and segmental neurofibromatosis.
[Association of chromhidrosis and segmental neurofibromatosis]. Presse Med. 2018 Mar 09;: Authors: Velter C, Thubert S, Wolkenstein P, Le Cleach L PMID: 29530298 [PubMed - as supplied by publisher]
Background: Early definitive spinal fusion (EF) has been widely recommended to avoid spinal deformity progression for early-onset scoliosis (EOS) with neurofibromatosis type 1 (NF-1). In contrast, growing rod (GR) procedure has recently been recommended for EOS associated with the dystrophic type NF-1. However, no studies have compared the surgical outcomes between EF and GR procedure for EOS with NF-1. The purpose of this study was to compare the surgical outcomes of EF versus GR for early onset and dystrophic scoliosis with NF-1. Methods: This was a retrospective multicenter study; 26 EOS patients with dystrophic ty...
ConclusionsTrametinib was an active and feasible treatment for progressive pLGG leading to disease control in all patients. However, treatment related toxicity interfered with treatment in individual patients, and disease control after MEKi withdrawal was not sustained in a fraction of patients. Our data support in-class efficacy of MEKi in pLGGs and necessity for upfront randomized testing of trametinib against current standard chemotherapy regimens.
ConclusionBezold –Jarisch Reflex as a result of narrow thoracic inlet caused by cervical kyphosis and compensatory hyperlordosis of the upper thoracic spine has never been reported. This case highlights the need to introspect into thoracic inlet morphology in severe cervicothoracic deformities. Thoracic inlet deco mpression is an efficient way of addressing this unique complication.
Publication date: Available online 28 September 2020Source: NeuroImage: ClinicalAuthor(s): Natalie R Boonzaier, Patrick W Hales, Felice D'Arco, Bronwen C Walters, Ramneek Kaur, Kshitij Mankad, Jessica Cooper, Alki Liasis, Victoria Smith, Patricia O'Hare, Darren Hargrave, Christopher A Clark
Publication date: Available online 1 October 2020Source: Stem Cell ResearchAuthor(s): Kiymet Bozaoglu, Wei Shern Lee, Kristina M Haebich, Kathryn N North, Jonathan M Payne, Paul J Lockhart
mel In this Special Issue of Cancer, a series of 10 papers (seven papers, three reviews) on Neurofibromatosis is presented by international leaders in this field of research [...]
Authors: Rago A, Tordi A, Siniscalchi A, Andrizzi C, Campagna S, Toritto TCD PMID: 32989179 [PubMed]
Head and neck manifestations of neurofibromatosis type 1 (NF1) often result in significant facial deformities, nerve compression, and airway obstruction. The treatment of these facial deformities with orthognathic combined with TMJ surgery is not well-reported in the literature.
Neurofibromatosis type 1 (NF-1; von Recklinghausen disease) is an autosomal dominant genetic disorder characterized by multiple caf é-au-lait macules and neurofibromas . Malignant neoplastic complications are common causes of death in NF-1 patients. Vascular complications are very rare but can lead to life-threatening hemorrhage if they occur [2,3]. Among the various vascular complications, there have been only a few case re ports of NF-1 patients with ruptures of artery aneurysms in the neck region that compromised upper airway [4,5].
PMID: 33002413 [PubMed - as supplied by publisher]