Social worker who is covered from head to toe in tiny tumours has been refused into swimming pools

Gail Appelgren, 57, from Edmonton in Alberta, Canada, has battled with neurofibromatosis her whole life, which she believes makes her 'special' despite cruel comments from strangers.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Authors: Pegat A, Ducray F, Jeannin-Mayer S, Jouanneau E, Pinson S, Petiot P PMID: 31221421 [PubMed - as supplied by publisher]
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
Source: European Journal of Vascular and Endovascular Surgery - Category: Surgery Authors: Tags: Coup D ’Oeil Source Type: research
Conclusion: It should be kept in mind that even if there are no signs and symptoms of catecholamine elevation, cardiomyopathy may be the first sign of PCC. PMID: 31208160 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
CONCLUSION: A rare case of neurofibromatosis associated GIST with multifocal localization was successfully treated by cephalic duodenopancreatectomy. KEY WORDS: Neurofibromatosis type 1 (NF1), Retroperitoneal Gastrointestinal Stromal Tumor (GIST). PMID: 31203268 [PubMed - in process]
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
Katie Krzyzanowski was born with neurofibromatosis, which causes tumours to form on nerve endings. This led the now 20-year-old, of Somerset, to develop scoliosis at four years old.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
AbstractMalignant peripheral nerve sheath tumors (MPNST) are a rare and aggressive group of tumors that are challenging to treat. Neurofibromatosis type 1 (NF-1)-associated MPNSTs have been associated with poorer clinical outcomes. The treatment options for NF-1-associated MPNSTs broadly include surgery (SG), chemotherapy (CT), and adjuvant radiotherapy (RT). Overall, the role and efficacy of CT and RT are unclear. Examination of existing literature for studies reporting on NF-1-associated MPNSTs and respective treatment-related outcomes was conducted. We conducted a systematic review according to PRISMA guidelines in PubM...
Source: Neurosurgical Review - Category: Neurosurgery Source Type: research
Authors: Hozumi K, Fukuoka H, Odake Y, Takeuchi T, Uehara T, Sato T, Inoshita N, Yoshida K, Matsumoto R, Bando H, Hirota Y, Iguchi G, Taniguchi M, Otsuki N, Nishigori C, Kosaki K, Hasegawa T, Ogawa W, Takahashi Y Abstract Although acromegaly has been reported in patients with Neurofibromatosis type 1 (NF1), these cases have not been associated with growth hormone (GH)-producing somatotroph adenoma, but with optic pathway glioma. A 68 year-old Japanese woman, who had been clinically diagnosed with NF1, was referred to our hospital due to a thyroid tumor and hypercalcemia. Acromegaly was suspected due to her facial f...
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research
Abstract Monacolin K (MK) is the principal active substance in Monascus-fermentation products (e.g. red yeast rice). MK is effective in reducing cholesterol levels in humans and has been widely used as a lipid-lowering drug. The mechanism for this is through a high degree of competitive inhibition of the rate-limiting enzyme HMG-CoA reductase (HMGR) in the cholesterol synthesis pathway. In addition to lowering blood lipid levels, MK also prevents colon cancer, acute myeloid leukemia and neurological disorders such as Parkinson's disease and type I neurofibromatosis. The aim of this manuscript is to comprehensively...
Source: Food and Chemical Toxicology - Category: Food Science Authors: Tags: Food Chem Toxicol Source Type: research
Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant tumor-predisposition disorder that mainly impacts the nervous system and skin. Since the full clinical presentation of NF1 depends on age, it can be difficult to make an early and definite diagnosis in paediatric patients without family history who only exhibited multiple cafè-au-lait spots, highlighting the need for mutational analysis. A combination of techniques was conducted in 30 families with NF1, including multi-gene panels, direct sequencing, cDNA sequencing and multiplex ligation-dependent probe amplification. Thirty variants we...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
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