Indian teen is unable to walk due to her 'defunct' claw-like fist

Mita Sabar, 18, from a remote village in Odisha, east India, is thought to be suffering from plexiform neurofibromatosis, which means her hand is so heavy she is unable to lift it.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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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 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
ConclusionPersons with FEH and their relatives are greatly affected by the aesthetic, medical and traumatic concerns related with this condition. Differential diagnosis includes other viral lesions, epidermodysplasia verruciformis, dysplastic PUVA keratosis and syndromes such as Neurofibromatosis and Cowdens.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
Objective: To investigate whether [18F]fluorothymidine (FLT) and/or [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET) can differentiate growth in neurofibromatosis 2 (NF2) related vestibular schwannomas (VS) and to evaluate the importance of PET scanner spatial resolution on measured tumor uptake. Methods: Six NF2 patients with 11 VS (4 rapidly growing, 7 indolent), were scanned with FLT and FDG using a high-resolution research tomograph (HRRT, Siemens) and a Siemens Biograph TrueV PET-CT, with and without resolution modeling image reconstruction. Mean, maximum, and peak standardised uptake values (SUV)...
Source: Otology and Neurotology - Category: ENT & OMF Tags: BASIC SCIENCE Source Type: research
Authors: Antonopoulos D, Tsilioni I, Balatsos NAA, Gourgoulianis KI, Theoharides TC Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1/3000 individuals worldwide. It results from germline mutations of the neurofibromin gene and it is fully penetrant by the age of 5. Neurofibromin is a 2818 amino acid protein that is produced in many cell types, but its levels are especially high in the nervous system. PMID: 31184097 [PubMed - as supplied by publisher]
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
The neurofibromatoses (NF) are a group of genetic disorders that interfere negatively with the quality of life (QoL) and influence physical, emotional and social statuses. Studying the effects of neurofibromat...
Source: BMC Neurology - Category: Neurology Authors: Tags: Research article Source Type: research
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