Clinical Neuroscience

[Organization of National Neurofibromatosis Register and fields of its application]

HORVÁTH András1, FARKAS Viktor1,2, LANGMÁR Zoltán3, BACH Rezső1, NAGY Zsolt B3

MAY 25, 2014

Clinical Neuroscience - 2014;67(05-06)

[Background and purpose - The neurofibromatosis is a rare genetic disease with increased tumor growing ability and different special symptoms (Riccardi-criteria). The National NF Register has been organized by NF Hungary in 2011. The idea was initiated by hungarian neurofibromatosis experts. Methods - The register contains data about the therapists, the hospitals and the patients. The data are recorded by retrospective method and followed in time, so the register can track progress. Furthermore the register has valid nutrition, physical activity and psychological data, so the users are able to make comparisons with the clinical information. Results - 225 persons are registerd in the system on NF Hungary and 37 patients belong to the NF National Register. The number of the patients, who are member of the register, is always increasing. From the 37 persons 22 are females (60%) and 15 males (40%), 18 adults (48%) and 19 underagedes (52%). Conclusion - NF Register is a very useful system to do research and to draw public health and popolazione conclusions. The register enhances the morbidity details (time of manifestation, progressione, prognostical factors, prognosis), thereby could improve the cooperation and the coverage of the patients. The system is open for the patients as well, so it can give information to the patients about new scientific results, new medical methods and current availavable medications.]

AFFILIATIONS

  1. NF Magyarország, Budapest
  2. Semmelweis Egyetem, I. Sz. Gyermekklinika, Budapest
  3. Genetikával Az Egészségért Egyesület, Budapest

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[LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders]

SOÓS Zsuzsanna, SALAMON Mónika, ERDEI Katalin, KASZÁS Nóra, FOLYOVICH András, SZŰCS Anna, BARCS Gábor, ARÁNYI Zsuzsanna, SKALICZKI József, VADASDI Károly, WINKLER Gábor

[Celiac disease - in its typical form - is a chronic immunemediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.]

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[The Comprehensive Headache-related Quality of life Questionnaire shows significant improvement after withdrawal treatment in medication overuse headache: a pilot study]

GYÜRE Tamás, CSÉPÁNY Éva, HAJNAL Boglárka, KELLERMANN István, BALOGH Eszter, NAGY Zsolt, MANHALTER Nóra, BOZSIK György, ERTSEY Csaba

[Background and purpose - Medication overuse headache (MOH) is a common form of disabling headache presenting in as much as 30% of the patients seen in headache subspecialty practice. Quality of life (QOL) is frequently used as a secondary endpoint in headache trials. In MOH, previous trials of QOL focused mostly on generic QOL. We report the results of a pilot study that examined the feasibility of using a new QOL questionnaire, the 23-item Comprehensive Headache-related Quality of life Questionnaire (CHQQ), as an indicator of treatment response in MOH. Patients and methods - Fifteen patients (13 women and two men; mean age: 39.7±12.5 years) suffering from MOH were enrolled in a complex treatment programme consisting of acute medication withdrawal, preventive pharmacological treatment, structured advice and lifestyle intervention. The clinical data were collected using a detailed headache diary. CHQQ was completed before and after the treatment programme. Results - MOH patients had low QOL values at baseline which was comparable to the QOL of episodic migraine patients. The treatment programme resulted in significant reductions of the number of headache days and attacks, headache severity and analgesic consumption. The dimensions and total score of CHQQ showed a significant increase after the treatment period. Seventeen of CHQQ’s 23 individual items also improved significantly. Conclusion - In this study the new headache-specific quality of life instrument CHQQ was able to demonstrate significant improvements after adequate treatment of MOH. This result indicates that the CHQQ may be an adequate tool for assessing quality of life in headache treatment trials.]

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[Background - We tested whether in diabetic polyneuropathy the temperature dependence of the median nerve conduction parameters reflects the severity of neuropathy. Methods - We validated an electrophysiological score against clinical signs of polyneuropathy. Electroneurography was performed at temperatures from 20-40 °C in diabetic patients with mild, moderate and severe neuropathy and controls. Results - The electrophysiological score reflected the clinical severity of polyneuropathy. At room temperature there were significant differences among groups in almost all parameters. In thermal sensitivity studies were significant differences in distal and proximal motor and sensory areas and in sensory conduction velocities. These four parameters normalized to 1 °C change in temperature also significantly differed among the four groups and were largest in controls and smallest in severe polyneuropathy. Conclusions - The use of an integral parameter - areas are essentially amplitudes integrated over time - increases the probability of detecting decreased thermal sensitivity of peripheral nerves in diabetes.]

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[Migraine is a common health problem affecting women more commonly. It has been associated with an increased risk for cardiovascular events. In this study, we investigated whether aortic elastic properties is altered in migraineurs with low cardiovascular risk compared with healthy controls, in order to elicit further evidence on tentative association between migraine and increased risk of cardiovascular disease. Methods - Forty-three migraine patients with low CVD risk were enrolled to the study. Thirty-three volunteers, with a similar age and sex distribution served as a control group. Following parameters of the aortic elasticity were calculated: aortic strain, aortic stiffness (β) index and aortic distensibility. Results - Aortic strain was not statistically different between the study and control group. However, aortic distensibility and β index were significantly impaired in patients with migraine compared to control subjects Discussion - The elastic properties of the aorta in migreineurs may be different from normal by using easily available echocardiographic methods. This information may be a clue for clarification of cardiovascular system involvement in migraine.]

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Clinical Neuroscience

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