Improper Supplementation Habits of Folic Acid Intake by Hungarian Pregnant Women: Improper Recommendations

Background: Neural tube defects (NTDs) are some of the most common congenital anomalies. Proper folic acid supplementation is a dominant risk factor, which has been shown to decrease the incidence of NTDs. In Canada, the incidence of neuroblastoma has presented a considerable decrease of 60% as a result of enrichment cereal grain flours with synthetic folic acid. The aim of this study was to investigate the effect of folic acid intake by pregnant women on the incidence of NTDs and neuroblastoma. Methods: Regular folic acid intake has been recommended to pregnant women in Hungary since the eighties of the last century by health visitors eventually raking effect as an official protocol which had been released in 1997. During 2001, 2002 and 2003. folic acid intake habits of pregnant women were evaluated by health visitors, proving to be successful in collecting data front 95.06% of the pregnant women. The incidence of NTDs has been registered by the Hungarian National Centre of Epidemiology, Department of Human Genetics and Teratology. The Pediatric Cancer Registry provided the incidence of neuroblastoma in children. Results: Consistent findings revealed a regular intake of supplementary folic acid products by 68.71% of the pregnant women. Out of these. 93.13% of pregnant women who were taking folic acid, started the supplementation after their 7 weeks of pregnancies, a time designated as the completion period of the development of the neural tube. The dose of folic acid supplementation was evaluated as less than 5 mg/day in 84.75% of the pregnant women. In Hungary, the incidence of NTDs has remained constant, while the incidence of neuroblastoma has shown constant slight increase in spite of the introduction of folic acid supplementation in 1997. Conclusions: Based on our experience, folic acid supplementation was initiated after the recognition of pregnancy and its application in a dose of lower than 5 mg/day neither decreased the incidence of NTDs nor did it have an effect on the neuroblastoma incidence. It is implicated that proper folic acid supplementation, which is started front the conception. can be achieved only with the enrichment of cereal grain flours

Disease course, frequency of relapses and survival of 73 patients with juvenile or adult dermatomyositis

Objective Our aim is to present the disease course, frequency of relapses and survival of juvenile and adult dermatomyositis (JDM/DM) patients. Methods Analysis was performed using data on 73 patients. The median follow-up for 38 JDM patients was 32 months and 78 months for 35 adult DM patients. Results 23/38 JDM patients (60%) had monophasic, 12/38 (31.6%) had polycyclic and 3138 (7.9%) had chronic disease. Among children treated only with glucocorticoids, 12/20 (60%) had monophasic and 8/20 (40%) had polycyclic disease. 10/17 (58.8%) children, who required second-line immunosuppressive agents, had monophasic and 4/17 (23.5%) had polycyclic disease. 18/35 DM (51.4%) patients had monophasic, 13/35 (37.1%) had polycyclic, 1/35 (2.9%) had chronic disease and 3135 (8.6%) had fulminant myositis. Among DM patients requiring only glucocorticoids, 12/20 (60%) were monophasic and 8/20 (40%) were polycyclic. In patients requiring second-line immunosuppressive agents, 6/15 patients (40%) had monophasic and 5/15 (33.3%) had polycyclic disease. Among patients with polycyclic disease, the risk of relapse was higher during first year than later in the disease course. None of the JDM patients have died, while 4 disease-specific deaths occurred in adult patients. There was no significant difference between the survival of JDM and DM patients. Discussion There was no correlation between relapse-free survival and the initial therapeutic regimen. Many of our patients had polycyclic or chronic disease. As relapses can occur after a prolonged disease-free interval, patients should be followed for at least 2 years. Although we found a favourable survival rate, further investigations are needed to assess functional outcome

A gyermekkori Ewing szarkómával szerzett magyarországi tapasztalataink

Magyarországon évente kb. 7-9 új Ewing szarkómás gyermeket diagnosztizálunk. Jelen munkánk célja az volt, hogy az Országos Gyermektumor Regiszter adatait felhasználva megvizsgáljuk a magyarországi Ewing szarkómás gyermekek prezentációs tüneteit, a klinikai paramétereket, a prognosztikai faktorokat, a terápiás és a túlélési eredményeket 1992 és 2002 közötti 11 éves periódusban. A fenti időszakban 88 új beteg került diagnosztizálásra, a fiú – leány arány 1,05 : 1 volt, az átlagéletkor 11 év 7 hónapnak bizonyult. A két leggyakoribb prezentációs tünet a lokális fájdalom és duzzanat voltak. 38 betegünkben hosszú csöves csontra lokalizálódott a megbetegedés, 29 gyermekben a Ewing szarkóma a csípő tájékról indult ki és 21 esetben valamely egyéb testtájékról. A betegeink közel egyharmadánál (29/88) már a diagnózis felállításakor áttétek voltak kimutathatóak. A fent nevezett időszakban három kemoterápiás protokollt alkalmaztunk Magyarországon: a CWS, az EICESS/CESS és 1999. decembere óta az Euro-EWING 99 protokollt. A 88 beteg 37,5%-nál (33/88) észleltünk recidívát átlagosan 22,4 hónappal a primer diagnózis felállítása után. A 88 betegből 45 jelenleg is él, az átlag követési idő 28,6 hónap. Az összes beteg 5-éves kumulatív túlélési valószínűsége 48,06±5,9%, a 10 éves 42,91±6,3%. A metasztázissal rendelkező betegek 5 és 8 éves túlélése 19,91±9,4%, a metasztázis nélküliek 5 éves túlélése 60,23±6,9%, míg a 10 éves 52,82±7,8%. A hazai eredmények megközelítik a nemzetközi adatokat, azonban törekednünk kell a diagnózis korai felállítására és ezáltal a kimondottan rossz prognózisú primer metasztatikus esetek számának csökkentésére. The number of newly diagnosed children in a year with Ewing’s sarcoma is 7-9 in Hungary. The aim of our study was to evaluate the presenting symptoms, clinical features, prognostic risk factors and treatment results of children’s Ewing’s sarcoma in Hungary using data from the National Childhood Cancer Registry in a 11 years-long period between 1992 and 2002. In this period, 88 new patients were diagnosed, the male-female ratio was 1,05:1 and the mean age was 11 years 7 months. The two most common presenting symptoms were local pain and swallowing. Tumor was located in the pelvis area in 29 patients, in the extremities in 38 and other sites in 21 cases. Almost one third of our patients (29/88) had metastasis at the time of the diagnosis. In this time period, three different protocols were used for treatment: CWS, EICESS/CESS and since December 1999 Euro-EWING 99. 37,5% of our patients (33/88) had relapse with a mean of 22,4 months after the diagnosis. 45 children are still alive, the median follow-up time is 28,6 months. The overall survival (OS) of all patients (n=88) was 48,06±5,9% at 5 years and 42,91±6,3% at 10 years. Patients with metastasis had OS 19,91±9,4% at 5 and at 8 years. The 5-year OS of children without metastasis was 60,23±6,9%, and 52,82±7,8% at 10 years. The Hungarian data are similar to international results, but we have to try to decrease the number of the primary metastatic cases with early diagnosis

A polymyositis/dermatomyositisben alkalmazott terápia hatásának tanulmányozása a patomechanizmusban szerepet játszó kóros immunválaszok egyes elemeire. Sejtes és humorális elemek, valamint az NF- B szignalizációs útvonal vizsgálata = Studying the effect of the therapy of polymyositis/dermatomyositis on the pathological immunological responses

Az idiopathiás inflammatorikus myopathiák (IIM) szisztémás autoimmun betegségek. Bohan és Peter kritériumok alapján diagnosztizált, 145 IIM-es betegben vizsgáltuk bizonyos MHC-II allélek jelenlétét. Elemeztük ezen allélek összefüggését a különböző myositis alcsoportokkal, a klinikai tünetekkel, az előforduló antitestekkel, a betegség lefolyásával és az alkalmazott terápiával. A HLA-DRB1, DQA1, DQB1 antigének különböző alléljeit szekvenciaspecifikus primerek segítségével polimeráz láncreakcióval határoztuk meg.Mindegyik myositis alcsoportban gyakoribb volt a DRB1*03 és a kapcsolt DQA1*05 valamint a DQB1*02 allélek jelenléte. Ezen allélek előfordulása magasabb volt a glükokortikoidon kívül egyéb immunszuppresszióra szoruló betegek körében. Az egyes autoantitestekkel való asszociációt tekintve Scl-70 pozitív mindkét beteg DRB1*03, DQA1*05, DQB1*02 genotípusú volt.A HLA DQA1 genotípusnál látható a különbség: a kontrollcsoport 11%-a *01 és/vagy *05 genotípusú, a betegcsoportban ugyanezek az allélok 60%-os gyakoriságot mutattak. A HLA DQB1*05 genotípust emelhető ki rizikó szempontjából, elsősorban ebben az esetben találtunk kiemelkedő asszociációt a betegcsoportban. Gyakori volt a DQB1*02 (40%) és a *03 allél (60%). . A JDM-es alcsoportban magas előfordulási arányt mutatott a DRB1*03, DQA1*01 és *05, a DQB1*02 és *05 allélok jelenléte. Szívizomérintettség esetén a betegek nem hordozták a DRB1*03 allélt, mint már korábban igazolt myositis rizikófaktorszerepű gént. | Idiopathic inflammatory myopathies (IIM) are a group of systemic autoimme diseases, which characteristically effect striated muscle tissues, resulting in immunemediated inflammation that leads to progressive muscle degeneration.In our current examinations were conducted using the Bohan and Peter critera in 145 patients, in whom we examined the presence of various MHC-II alles. Based on these alleles, we summarized the correlations of the various myositis subgroups, clinical symptoms, present antibodies, with the disease cource and applied therapies. With the help of the polymerase chain reaction, we determined the sequence specific primes of the HLA-DRBI, DQA1, and DQB1 antigens.In all myositis subgroups, the presence of DRB1*03 and associated DQA1*05, and DQB1*02 alleles was common.The prognosis may be worse in those cases where patients reacted well only to second and third line therapies. With respect to the disease course, in the more severe and/or complicated cases, those genes which are associated with higher riskfactors (DRB1*03, DQA1*01 and *05, DQB1*02) where more frequent than in cases of monophasic disease course cases. We found a much higher incidence of the DQA1*05 allele compared to the control group: 66% were polyphasic, 67% in the chronic course. The associations of various haplotypes with certain phenotype characteristics may have diagnostic value

Myositisek tumorral történő társulása

AIMS OF THE STUDY: In the 214 polymyositis / dermatomyositis patients in our department we studied the association of polymyositis / dermatomyositis with malignant tumors, the clinical specificities and therapeutic response changes in these cases. METHODS: Retrospective analysis of the data available since 1985 of the patients treated at the DEOEC 3(rd) Department of Internal Medicine. RESULTS: From 60 patients with dermatomyositis 9 were diagnosed with neoplasia. In 5 patients simultaneously with the dermatomyositis diagnosis, in the other 4 patients 2-2-3-7 years after the onset of dermatomyositis. In the 154 patients with polymyositis we did not observe development of tumors. CONCLUSIONS: Neoplasm was observed in 15% of patients with dermatomyositis. The patients presented with serious skin involvement which did not respond well to the dermatomyositis treatment. The patients in whom tumors developed simultaneously with the dermatomyositis required more aggressive treatment. After the therapy of the tumor (surgery, radiotherapy), the skin and muscle symptoms responded better to the immunosuppressive therapy

Fabry-betegség - Diagnosztikai útmutató

A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaosylceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben. A betegség első tünetei többnyire gyermekkorban jelentkeznek, a progresszió során a betegek súlyos szervi károsodásokkal és korai halálozással számolhatnak. Elsősorban fiúk és férfiak érintettek, azonban a betegség tüneteit heterozigóta nők esetében is megfigyelhetjük, de náluk a kórkép súlyossága változó, általában enyhébb lefolyású. Az enzimpótló kezelések megjelenése szükségessé tette, hogy részletes diagnosztikus és terápiás protokollt dolgozzunk ki. A jelen dolgozatban megjelenő ajánlásokat egy, a magyarországi Fabry-betegek kezelésében aktívan részt vevő orvosokból, a diagnosztika területén dolgozó biológosukból és egyéb szakemberekből álló multidiszciplináris munkacsoport foglalta össze. A munkacsoport áttekintette a korábbi klinikai tanulmányokat, a publikált vizsgálatokat és a közelmúltban megjelent nemzetközi és nemzeti útmutatókat. | Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death. The disease in females could be as severe as in males although women may also be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline was established by a Hungarian multi-disciplinary working group, consisting of physicians who are involved in health care of Fabry patients. Previous clinical studies, published materials, and recently established international treatment guidelines were reviewed by the group