Lege Artis Medicinae

[On the borderline]

KAPÓCS Gábor

DECEMBER 21, 2011

Lege Artis Medicinae - 2011;21(12)

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[Thyroid disorders during pregnancy]

HAJNÁCZKY Károly

[The hormones of the thyroid gland play a basic role in human reproduction and in the early development of the fetal brain, too. The frequency of hypo- and hyperthyroidism occuring in a pregnancy is between 1-2 per cent. Abnormal maternal thyroid function could result in harmful effects for both the mothers and their offsprings. An illness (gestational throphoblast disease) that is known to have an influence on the maternal thyroid function. Thyroid diseases occuring in pregnancy can result in diagnostical problems: the existing complaints and symptoms may be misdiagnosed as a consequence of pregnancy. Because of the changes in thyroid metabolism, which are typical to pregnancy, the analysis of the results of thyroid function may be difficult. Several diagnostical and therapeutical procedures (i. e. radioiodine techniques) are absolutely contraindicated during pregnancy. In the case of thyroid hormone replacement therapy one must take into consideration the continously changing maternal demand. Propylthiouracil is the choice of therapy regarding the treatment of the hyperthyreoidism during pregnancy. The incidence of thyroid cancer in pregnancy is 1 per 1000. Pregnancy itself does not appear to increase the risk of malignant tranformation or alter the course of thyroid cancer. The preferred period of the surgical intervention of the thyroid gland is the second trimester of the pregnancy. The introduction of a thyroid functional test (thyroid-stimulating hormone) as a screening method in the first trimester would be advisable in our country. Achieving this new procedure would reflect and expand a way of thinking in respect of prevention in our pregnancy care practice.]

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Ca&Bone

[Relationship of cardiovascular risk factors and bone status in a large adult population of the Balaton Region]

BUDAY BARBARA, IZSÓNÉ KATZ MELITTA, NAGY ELVIRA, PAPP ZSUZSA, KORÁNYI LÁSZLÓ

[BACKROUND - Numerous international studies have investigated the relationship between bone metabolism and type 2 diabetes mellitus. The results are controversial, there are those proving an increasing effect of diabetes on bone density but we know data that prove the opposite results. Our aim was to investigate the relationship between bone density, obesity and carbohydrate metabolism on a large Hungarian population. PATIENTS AND METHODS - The data from a large population screening (n=6287, mean age 56±13 years, men: n=1561, women: n=4726), carried out in the Balaton Region, Hungary, were analyzed (anthropometry, blood glucose and total cholesterol, blood pressure, calcaneus ultrasound T-score). RESULTS - Analyzing the relationship between type 2 diabetes and osteoporosis/osteopenia, we found, that the prevalence of osteopenia is significantly higher in diabetic women between 50-60 years of age than that of normal glucose tolerance, (50 vs. 36.34%, OR: 1.711, 95% CI: 1.076-2.722, p<0.022), however in different age groups and in males there were no significant differences, similar to the metabolic syndrome which did not influence the prevalence of osteoporosis/osteopenia. In normal weight (male and female) diabetic population over 60 years of age, the frequency of osteoporosis/ ostepenia was much higher, than in the normal weight normal glucose tolerance group, which difference was borderline-significant in the case of osteoporosis (63.63 vs. 26.2%, OR: 2.71, 95% CI: 0.969-7.6, p=0.054), and did not reach it with osteopenia (53.38 vs. 43.31%, p=0.359). In the same age group, within the “all glucose intolerant” and “all normal glucose tolerance” groups the prevalence of osteoporosis/osteopenia did not differ. We found significant correlation between BMI and T score only in women and it was strongest in age group of over 70 years (r=+0.23, p<0.001). CONCLUSION - Our data suggest that the increased bone density often measured in type 2 diabetic patients is actually the consequence of the accompanying obesity, and not of diabetes itself, which is rather a risk factor for bone loss.]

Ca&Bone

[Effect of cigarette smoking on bone density]

MÉSZÁROS SZILVIA, FERENCZ VIKTÓRIA, DELI Mónika, BORS Katalin, HORVÁTH CSABA

[INTRODUCTION - Smoking is associated with a decreased bone mass and increased risk of osteoporotic fractures.The aim of this study was to investigate the impact of current tobacco smoking to bone mineral density (BMD) in Hungarian females. PATIENTS AND METHODS - We measured BMD in 43 (25-72 yrs) smoker and 43 age- and BMI-matched non-smoker women by dual X-ray absorptiometry (Prodigy, GE Lunar) at the lumbar spine and proximal femur and by single photon absorptiometry at the radius midshaft of the non-dominant side (NK 364, Gamma). RESULTS - Osteoporosis (T-score at any measured site below - 2.5) was found to be more common among smokers compared to non smokers (63.6% vs 36.4%, χ2-test p=0.009). Among premenopausal women no difference was found in BMD between the two groups, whereas postmenopausal smoker women tended to have a lower BMD value compared to those who didn’t smoke. In postmenopausal women a decrease of borderline significance was found in lumbar BMD (0.977 vs 1.04; p=0.06). CONCLUSION - Our observation suggests that there is only a slight decrease in bone mass due to smoking, however, added to menopausal bone loss this effect can be a significant contributor to the increased fracture risk of involutional age.]

Clinical Neuroscience

[Clinical and genetic diagnosis of dravet syndrome: report of 20 cases]

SIEGLER Zsuzsa, NEUWIRTH Magdolna, HEGYI Márta, PARAICZ Éva, PÁLMAFY Beatrix, TEGZES Andrea, BARSI Péter, KARCAGI Veronika, CLAES Lieve, DE Jonghe Peter, HERCZEGFALVI Ágnes, FOGARASI András

[Objective and background - Severe myoclonic epilepsy in infancy (SMEI; Dravet's syndrome) is a malignant epilepsy syndrome characterized by prolonged febrile hemiconvulsions or generalized seizures starting in the first year of life. Later on myoclonic, atypical absence, and complex partial seizures appear. When one of these seizure forms is lacking the syndrome of borderline SMEI (SMEB) is defined. Psychomotor delay resulting in mental retardation is observed during the second year of life. In most patients a de novo sodium channel alfa-1 subunit (SCN1A) mutation can be identified. By reviewing the clinical, laboratory, and neuroimaging data of our SMEI patients diagnosed between 2000 and 2008, we would like to share our experiences in this rare but challenging syndrome. Our results will facilitate the earlier and better diagnosis of Hungarian children with SMEI. Patients and methods - Clinical, EEG, MRI and DNA mutation data of 20 SMEI patients treated in the Bethesda Children’s Hospital (Budapest) were reviewed. Results - The first seizure appeared at age 6.3±3.0 months. At least one of the first two seizures were complex febrile seizures in 19/20 and unilateral seizures in 12/20 children. All children except for one showed hemiconvulsions at least once; all children had seizures lasting longer than 15 minutes. Eight of twenty patients had SMEB. DNA diagnostics identified an SCN1A mutation in 17 patients (6 missense, 4 nonsense, 4 frameshift, 2 splice site, 1 deletion) while 3 children had no mutation. Conclusion - Early diagnosis of SMEI is important for the avoiding unnecessary examinations and false therapies as well as for genetic counselling. Typical symptoms of SMEI are early and prolonged febrile hemiconvulsions with neurological symptoms, mental retardation and secondary seizure types later on. The presence of an SCN1A mutation supports the diagnosis. We propose the availability of molecular diagnostics and stiripentol therapy for SMEI children in Hungary.]

Clinical Neuroscience

[The changes in quality of life after instrumented surgical fusion of degenerative spondylolisthesis]

SÁRÓ Enikő, MISIK Ferenc, BANCZEROWSKI Péter

[Objective - There is no internationally accepted guideline for treatment of spondylolisthesis in the literature, otherwise this degenerative disease has great social and economical impact. There is no hungarian study examining the efficacy of instrumented fusion procedure in surgical treatment of spondylolisthesis. In current study we examined the effectiveness of fusion technique focusing on the impact of quality of life. Methods - Between 1st January, 2011 and 30th June, 2012 we examined a group of patients - who were operated on by instrumented fusion technique because of spondylolisthesis -, in the National Institute of Clinical Neurosciences, using the Oswestry Low Back Disability Questionnaire. All patients were treated after ineffective conservative treatment. The question was wheather how has changed the patients’ quality of life after the operation. Paired-sample t-test was used in this study. Results - Eighty-eight of the 97 examined patients reported different levels of impovement in the postoperative period, two patient’s condition has not changed in spite of the surgery, seven patient’s condition showed progression in average one year after the surgery. The pain improved most significantly (55.5%) (p<0.0001). Using the 16 point borderline according to the Questionnaire (over moderate disability), significant improvement was detected in 50 patients (51.5%). Succesful surgical result - according to the quality of life - was seen in 77.41% of male and in 50.98% of female patients. According to the different age groups, 72.72% of the younger (before retirement), and 53.06% of the retired patients belonged to this group. At least 15 point improvement was detected 35.05% of the patients, the overall improvement was 10.5 point. Discussion - Our results proved effectiveness of instrumented surgical fusion procedure in the treatment of degenerative spondylolisthesis. According to our results the younger male population with significant symptoms is the group, where improvement in quality of life is more pronaunced after the surgical procedure. Conclusion - The instrumented fusion surgical technique provides successful clinical and surgical outcome in patients with degenerative spondylolisthesis. It could improve the quality of life. Althought multicentre follow-up studies are needed to determine the exact indication and optimal therapy.]

Clinical Neuroscience

[Our clinical experience with zonisamide in resistant generalized epilepsy syndromes]

KELEMEN Anna, RÁSONYI György, NEUWIRTH Magdolna, BARCS Gábor, SZŰCS Anna, JAKUS Rita, FABÓ Dániel, JUHOS Vera, PÁLFY Beatrix, HALÁSZ Péter

[Purpose - Zonisamide is licensed in the European Union for adjunctive therapy for partial epilepsy, but its efficacy in generalized epilepsy was less explored. Methods - This prospective observational study included 47 patients (mean age 29 years, range 3-50) with different resistant generalized epilepsy syndromes: idiopathic generalized syndromes (IGE) 15 patients, (juvenile myoclonic epilepsy four, absence epilepsy four, myoclonic absence two, unclassified IGE five), progressive myoclonic epilepsy type 1 (PME1) four, severe myoclonic epilepsy of infancy (SMEI) three, borderline SMEI three, Lennox-Gastaut syndrome/secondary generalized epileptic encephalopties 23 patients. All patients were followed up for at least six months. The mean dose given was 367 mg/day (range 100-600 mg/day), the patients received at least one and no more than two concomitant AE. Response was defined as more than 50% seizure reduction or seizure freedom. Results - The best effect was achieved in PME one, all the patients were responders. Myoclonic seizures were reduced 80%, none of the patients had generalized tonic clonic (GTC) seizures. In two of the four patients all other antiepileptics were tapered of (including piracetam), so they were GTC seizure and almost myoclonia free on zonisamide only. Responder rates were in GEFS ± SME 62.5%, in resistant IGE 62.5%, and in epileptic encephalopathies 33.3% patients. Tolerance after initial efficacy developed in six patients. Adverse effects were mild: weight loss, somnolence and confusion were repeatedly reported. Three patients reported cognitive improvement. Conclusion - Clinical benefit of a broad spectrum antiepileptic zonisamide extends across seizure types, ages and epilepsy syndromes. The efficacy in PME proved to be excellent.]