Suicide risk management in clinical practice. Current challenges and future perspectives / Az öngyilkossági rizikó becslése a klinikai gyakorlatban. A jelen kihívásai és a jövo perspektívái

There is still little reliable information about the psychological processes underlying suicidal behaviour, and suicide risk assessment scales also have only limited predictive value. However, the recently described suicide-specific syndromes such as acute suicidal affective disorder (ASAD) and suicide crisis syndrome (SCS) open up new possibilities for a complex interpretation and prediction of suicidal behaviour. We briefly summarize modern theoretical approaches explaining the development of suicidal behaviour, the possibilities of predicting suicide risk, and contemporary methods of assessing pre-suicidal psychopathological symptoms, highlighting the suicide-specific syndromes and their screening tools. The results of the systematic review of the suicide-specific syndrome literature indicate that both the ASAD construct and the SCS may be helpful in predicting suicidal behaviour and they correlate with other similar questionnaires. Suicide-specific syndromes and the measurement tools are proven to be effective in theoretical research as well as in the field of clinical applicability in the prediction of suicidal behaviour, so their adaptation and application in Hungary may be recommended.

The roof step cut: A novel technique for bony reconstruction of acetabular roof deficiency during total hip replacement.

OBJECTIVES: This study aims to present a new technique, the roof step cut (RSC), for acetabular augmentation of hip dysplasia. PATIENTS AND METHODS: Between December 2008 and March 2020, we applied the RSC technique in a total of 48 hips of 41 patients (2 males, 39 females; mean age: 50.1±9.5 years; range, 30 to 75 years) with Hartofilakidis type A, B, C hip dysplasia. The RSC technique uses a L-shaped graft cut from the femoral head. The graft is partially inside the acetabulum and partially on the lateral aspect of the ilium. It is fixed with two screws at a 45° angle allowing simultaneous distalization and lateral covering of the cementless cup. Follow-up was done at six weeks, three months, and annually thereafter using standard pelvis anteroposterior X-ray and function scores. The 99mTc bone scintigraphy examination was also performed at around two weeks, six months, and 12 months postoperatively to evaluate the healing process of the graft. RESULTS: The mean follow-up time was 59.6±25.6 (range, 12 to 109) months. No significant center-edge angle changes and no contiguous radiolucent zones at the bone prosthesis interface were observed at the final follow-up. The single-photon emission tomography (SPECT) showed the activity of the bone graft gradually increased after surgery and became almost the same as the reference area after 12 months. Functional evaluation showed a significant improvement after the operation. No complication directly related to the technique was observed. CONCLUSION: In the short-term follow-up, the RSC technique is a reliable procedure for acetabular augmentation of hip dysplasia, providing enough coverage for the cementless cup and assuring proper stability.

Early effects of different irradiation techniques used in the treatment of prostate cancer on urination / A prosztatarák kezelésében alkalmazott besugárzási technikák vizelési képességre gyakorolt korai hatása.

Összefoglaló. Bevezetés: A prosztatarák kezelésében jelentos szerepet kapnak a különbözo sugárterápiás eljárások. Ennek ellenére a vizelési képességre gyakorolt, rövid és hosszú távú mellékhatásaikat objektív vizsgálómódszerrel igen kevés tanulmányban vizsgálták. Célkituzés: Arra a kérdésre kerestük a választ, hogy hogyan változik a korai vizelési képesség a különbözo sugárterápiás eljárások során. Módszerek: A vizsgálatunkban meghatározott protokoll szerint a kezelés elott minden bevont beteggel IPSS-t (nemzetközi prosztatatünet-értékelo lap) töltettünk ki, illetve uroflow (vizeletáramlási) vizsgálatot végeztünk, suprapubicus ultrahanggal meghatározott mictiós residuum méréssel kiegészítve. A sugárkezelés befejezésétol számított 4-6 héten belül ismételten elvégeztük ezeket a vizsgálatokat, melyekbe összesen 26 beteget vontunk be. A kezelési modalitások szerint 6, kis dózisteljesítményu (low-dose rate; LDR) brachytherapiában, 5, nagy dózisteljesítményu (high-dose rate; HDR) brachytherapiában, 12, Cyberknife (CK) készüléken extrém hipofrakcionált sugárkezelésben és 3, lineáris gyorsítón (LINAC) mérsékelten hipofrakcionált sugárkezelésben részesített prosztatarákos beteget választottunk be. A kezelések hasonlósága miatt az LDR- és a HDR-csoportot együttesen brachytherapiás csoportként (BTCS), a CK- és a LINAC-csoportot teleterápiás csoportként (TTCS) vizsgáltuk. Eredmények: A BTCS betegeinél az IPSS- és az uroflow paraméterek korai romlása (IPSS irritatív panaszok: p = 0,003, IPSS obstruktív panaszok: p = 0,011, maximális áramlás: p = 0,003, átlagos áramlás: p = 0,006) szignifikánsnak bizonyult, a TTCS-ban mindösszesen az IPSS irritatív tünetekben volt kimutatható eltérés (p = 0,011). Következtetés: A sugárterápiás modalitás kiválasztása elott javasolható az uroflow és az IPSS-vizsgálat elvégzése. Eredményeink alapján azoknál a betegeknél, akiknél a kezelés elott középsúlyos vagy súlyos dysuriás vizelési panaszok állnak fenn, a brachytherapia helyett teleterápiás módszerek alkalmazását javasoljuk, amelyek kevésbé rontják a betegek korai vizeletürítési képességét. Orv Hetil. 2021; 162(33): 1328-1334. INTRODUCTION: Various radiotherapy procedures are applied in the treatment of prostate cancer. Nevertheless, their early and late side effects measured by uroflow and residual volume measurements have not been studied extensively. OBJECTIVE: We investigated by objective methods the early changes of urination ability after different radiotherapy procedures. METHODS: According to the protocol defined in our study, all patients had their IPSS (international prostate symptom score) determined, as well as their uroflow examinations and measurements of their residual urine via suprapubic ultrasound, carried out before treatment. These tests were then repeated at 4-6 weeks after the end of their radiotherapy. A total of 26 patients were included in the study. 6 patients were treated with low-dose rate (LDR) brachytherapy and 5 patients with high-dose rate (HDR) brachytherapy, 12 patients with Cyberknife (CK) using extreme hypofractionation and 3 patients with moderately hypofractionated radiotherapy with a linear accelerator (LINAC). Due to the similarity of the treatments, the LDR and HDR groups together were also studied as brachytherapy group and the CK and LINAC patients as teletherapy group. RESULTS: We found that the early deterioration of IPSS and uroflow parameters after brachytherapy were significant (IPSS irritative symptoms: p = 0.003, IPSS obstructive symptoms: p = 0.011, maximum flow: p = 0.003, mean flow: p = 0.006), while in teletherapy only the IPSS irritative symptoms worsened significantly (p = 0.011). CONCLUSION: Based on our results, we suggest to perform uroflow examination and IPSS test before selecting therapeutic modality for patients with prostate cancer. In patients with moderate or severe urinary complaints before the treatment, we recommend to use teletherapy rather than brachytherapy. Orv Hetil. 2021; 162(33): 1328-1334.

Glycated hemoglobin as an option in screening for metabolic syndrome / A glikált hemoglobin mint lehetoség a metabolikus szindróma szurésében.

Összefoglaló. Bevezetés: A metabolikus szindróma elofordulása és jelentosége az elhízás prevalenciájával arányosan megnövekedett. Diagnosztizálása különbözo kritériumrendszerek segítségével történhet. Célkituzés: A kutatás célkituzése volt egy hátrányos helyzetu település lakosságánál a metabolikus szindróma prevalenciájának megállapítása a diabetes mellitus szempontjából fokozott, illetve magas kockázatú egyéneknél, emellett a glikált hemoglobin alkalmazhatóságának vizsgálata a metabolikus szindróma szurésében. Módszer: A metabolikus szindróma megállapítása az International Diabetes Federation kritériumrendszere alapján történt a vérnyomás- és haskörfogatértékek, illetve vénás vérminta alapján. Az utóbbi folyamán szérumból a lipidparaméterek és a glikált hemoglobin vizsgálata, plazmából pedig éhomi és terheléses vércukorvizsgálat történt. A labordiagnosztikai módszerek alkalmazhatóságát "receiver-operating characteristic (ROC) curve" (vevoegység-muködési karakterisztikus görbe) segítségével elemeztük. Eredmények: A 74 vizsgált egyén 71,62%-ánál igazolódott metabolikus szindróma (n = 53). A legideálisabb "cut-off point" az 5,65%-os (38,3 mmol/mol) glikálthemoglobin-érték volt, amelynél a szenzitivitás 69,8%-nak, míg a specificitás 77,3%-nak (p<0,001) adódott. A módszer pozitív prediktív értéke 69,8%, míg negatív prediktív értéke 81,8% (p<0,001) volt. Az éhomi vércukorszint esetében a legideálisabb vágópontnak szintén az 5,65 mmol/l-es vércukorérték bizonyult. Következtetés: A metabolikus szindróma elofordulása a fokozott, illetve magas diabetesrizikóval rendelkezok körében jelentosen magasabb volt, mint hasonló kutatások esetében az összpopulációra vonatkoztatva. Elemzéseink alapján a glikált hemoglobin a metabolikus szindróma megállapítása során alkalmazható az éhomi vércukorszint kiegészítéseként. Orv Hetil. 2021; 162(31): 1244-1251. INTRODUCTION: The incidence and thus the relevance of metabolic syndrome have been increasing in parallel with the prevalence of obesity. Metabolic syndrome can be diagnosed using various criteria systems. OBJECTIVE: This research was designed to establish the prevalence of metabolic syndrome among patients at moderate or high risk for diabetes mellitus in the population of a disadvantaged Hungarian municipality. The secondary objective of the study was the examination of the suitability of glycated hemoglobin as a screening tool for metabolic syndrome. METHOD: Diagnosis of metabolic syndrome was established using the International Diabetes Federation criteria system based on the measurement of blood pressure and abdominal circumference as well as values using venous blood samples. Lipid parameters and glycated hemoglobin levels were measured from serum as well. The fasting and two-hours post-load blood glucose were measured from plasma. The validity of the laboratory diagnostic methods were determined with receiver-operating characteristic (ROC) curve analysis. RESULTS: 71.62% of the 74 tested patients were confirmed to have metabolic syndrome (n = 53). The optimal cut-off point was 5.65% (38.3 mmol/mol) glycated hemoglobin value with 69.8% sensitivity and 77.3% specificity (p<0.001). The positive predictive value of the method was 69.8%, while the negative predictive value was 81.8% (p<0.001). For fasting glucose levels, the optimal cut-off point was the 5.65 mmol/L blood glucose level. CONCLUSION: The prevalence of metabolic syndrome among individuals at elevated or high risk for diabetes was significantly higher compared to the total population, based on published data from similar earlier studies. Based on our analyses, glycated hemoglobin - used as a complementary parameter to fasting glucose level - is suitable for the diagnosis of metabolic syndrome. Orv Hetil. 2021; 162(31): 1244-1251.

Risk-based diabetes screening in a Hungarian general practice: comparison of laboratory methods and diagnostic criteria.

AIM: Aim of cross-sectional study was to survey the risk of diabetes mellitus in a severely disadvantaged Hungarian community and then to use laboratory tests to screen for potential carbohydrate metabolism disorders among those in the moderate- and high-risk groups. BACKGROUND: The prevalence of diabetes mellitus shows a worrisome trend worldwide. Low socio-economic status significantly affects the development of diabetes, healthy life years and life expectancy. METHOD: Diabetes risk of the population was surveyed with the FINDRISC (Finnish Diabetes Risk Score) questionnaire, followed by oral glucose tolerance test (OGTT) and glycated haemoglobin test of moderate- and high-risk patients. FINDINGS: In sample of 551 subjects, moderate or high risk for diabetes was confirmed in 147 patients (26.68%). There was significant correlation between increased risk and age (P < 0.001) and between increased risk and body mass index (P < 0.001). Significant difference was confirmed between incidences for disease based on the results of OGTT and glycated haemoglobin test when two different criteria systems were used. Age was the strongest predictor of pre-diabetes/diabetes (P = 0.016). The presence of metabolic syndrome increased the level of glycated haemoglobin by an average of 0.2% in normal glycemic status.

A drop of self-confidence program about urinary incontinence.

AIM: The aim of our study was to find and map untreated incontinence patients through general practitioner (GP) practices. METHODS: General practitioners and their assistants participated in the program (Group A). GPs of all the country were involved in a representative manner. The process of the program was preparing the education program, praxis involvement, participant education, a population screening, and by questionnaire by medical staff. In Group B urological outpatients clinics participated. RESULTS: A total of 2761 GPs, 3015 nurses, and 110 specialists participated in the program between 2011 and 2019. The population participating in the program was 162,871, 86% women and 14% men. The age range was 18-96. 68% had urinary incontinence (UI), 76% of patients had stress, and 49% had urge incontinence. Incontinence is very high (98%) among bedridden patients. On average, 20% had very little information, 40% had little information, 33% had enough information about incontinence, and 7% thought they knew everything about it. 41% reported diabetes mellitus, 33% had frequent cough and sneezing, 31% obesity as a risk factor. 30% of incontinent patients did not go to the GP and 66% to the specialist. 34% of patients who were at GPs received no information, 34% of the patients received symptomatic, and 30% did not receive treatment from the GP. CONCLUSION: The incidence of UI is similar to that in other countries. Patient recognition care is similar, perhaps worse. The findings of this study clearly indicate that harmful physical and psychosocial effects of UI are significant and require attention of the healthcare system.

Training concept of integrative medicine in Hungary based on international models / Az integratív medicina képzésének hazai koncepciója nemzetközi minták alapján.

Integrative medicine is a new approach in the 21st century healthcare system, which integrates conventional medicine and evidence-based, safe and efficient complementary therapies into a unified biomedicine. Medical doctors and complementary therapists work together in partnership with patients to help them recover and live a whole life. Equally important is the maintenance and enhancement of health and well-being in which therapists become role-models. In this article, the authors introduce a proposal for the concept and major elements of a two-year integrative medicine postgraduate training for specialist doctors in Hungary and summarize international progress in the field. Orv Hetil. 2020; 161(27): 1122-1130.

[Risk-based prediabetes screening in a rural general practice - oral glucose tolerance test or glycated hemoglobin?] / Kockázatalapú praediabetesszurés egy vidéki családorvosi praxisban ­ orális glükóztolerancia-teszt vagy glikált hemoglobin?

Introduction and aim: The aim of this study was to implement a two-stage diabetes screening programme in a severely disadvantaged municipality. In the first stage, diabetes risk assessment was carried out in the 18 to 75 age group, followed by screening of the high risk population for potential carbohydrate metabolism disorders using laboratory tests. Method: Stage 1: assessment of diabetes risk with the FINDRISC questionnaire; Stage 2: identification of carbohydrate metabolism status by oral glucose tolerance test and glycated haemoglobin test in patients with elevated or high risk of diabetes. Results: 406 individuals completed the FINDRISC questionnaire. Elevated or high risk for diabetes was confirmed in 129 individuals (31.77%). There was significant correlation between increased risk and age (p<0.001) and between increased risk and body mass index (p<0.001). Based on the oral glucose tolerance test, 28.3% and 9.43% of the patients were diagnosed with pre-diabetes and diabetes mellitus, respectively. According to the glycated haemoglobin test, the incidences of prediabetes and diabetes were 50.94% and 11.32%, respectively. The strongest predictors of prediabetes/diabetes mellitus was the age (p = 0.047). The correlation between prediabetes/diabetes mellitus and smoking (p = 0.635) and physical activity (p = 0.975) was the weakest. The results showed that the glycated hemoglobin value increased by mean 0.2% by metabolic syndromes patients. Conclusions: Our results highlight the necessity for improving preventative care. Based on the risks of significant mortality and disability due to diabetes, prevention and early diagnosis must be prioritised in primary care. In addition to the oral glucose tolerance test, measurement of glycated haemoglobin is also indicated, while keeping in mind the limitations of its diagnostic value. Evaluating for glycated hemoglobin results, it is also worth looking for the presence of metabolic syndrome. Orv Hetil. 2019; 160(50): 1976-1983.

Evaluation of trace metal levels in surface water and sediments of the Hungarian upper section of the Danube River and its tributaries.

The objective of this study was to assess the concentration levels of trace metals (Zn, Hg, Cd, Cr, Ni, Pb and Cu) in surface water and bottom sediments of the Hungarian upper section of the Danube River and its main tributaries. A total of 935 samples (water and sediments) were collected from 10 different sampling sites in the period of 2001-2012 and analyzed for the trace metals. Moreover, the dissolved arsenic content was determined in a number of 467 water samples in the period of 2004-2012. The highest dissolved trace element concentrations were observed at the site of Kenyérmezei-patak Creek located near a hazardous waste incinerator. However, the comparison of the dissolved trace metal(loid) concentrations determined with other sections of the Danube River and the European Union environmental quality standards revealed that the dissolved trace metal(loid) concentrations were relatively low in the Hungarian upper section during the 12-year study period (excluding some samples for Hg, Cd and Cr). The concentrations of trace metals in sediments were higher than those found in water samples and varied very much in all sampling sites during the study period. The sediment samples were mainly classified as low or moderate polluted for trace metals. However, some sediment samples collected especially from the Moson Danube branch indicated a considerable (for Zn, Hg, Cd, Ni and Cu) or a very high (for Zn and Hg) contamination.

[Genetic and epigenetic factors of polycystic ovary syndrome]. / Genetikai és epigenetikai faktorok polycystás ovarium szindróma esetén.

The development of polycystic ovary syndrome and its exact pathophysiological mechanism is still unclear, but environmental and genetic factors likely play a role. Exposition to teratogenic effects during the prenatal development can lead to chronic diseases in the postnatal period. This finding confirms the common familial aggregation as well. A literature search was conducted up to January 1, 2016 for articles dealing with the genetic or epigenetic factors of polycystic ovary syndrome. This review will discuss the current understanding of the genetic basis and clinical presentation of this disease. Orv. Hetil., 2016, 157(32), 1275-1281.

[Clinical aspects of congenital maxillofacial deformities]. / A veleszületett maxillofacialis deformitások klinikai aspektusai.

The cleft lip and palate deformity is one of the most common type of congenital abnormalities. The aim of this paper is to summarise the literature knowledge about cleft lip and/or palate. The authors review and discuss international literature data on the prevention, genetic and environmental predisposing factors, anatomical and embryological features, as well as pre- and post-natal diagnosis and treatment of these deformities. The aetiology is multifactorial, driven by both genetic and environmental factors which lead to multifaceted phenotypes and clinical features of these malformations. The lack of the multidisciplinary knowledge about prenatal diagnosis, prevention, genetic aspects and treatment strategy could result in serious diagnostic errors, hence clinical teamwork is critically important to solve the problems of this pathology. Only the professional teamwork and multidisciplinary cooperation can guarantee the optimal level of health care and better quality of life for these patients and their families.

Application of a vibrating device for the prevention of flexion contracture after total knee arthroplasty.

Our research team developed a new, heel support-based static and vibrating complementary treatment method for the prevention of flexion contractures often arising after total knee arthroplasty. We examined the efficiency of the method performing a randomized clinical trial with 144 patients undergoing total knee replacement. Seventy-nine patients were treated for 1 week with a generally used continuous passive motion (CPM) device complemented with our new method, which was based on the application of a static and an alternating heel support. The 65 patients in the control group were treated with only a CPM device as in usual clinical practice. The femoro-tibial angle was measured immediately following surgery, and after 1 week of treatment. At the end of the 1 week treatment, the target extension angle (0° ± 5°) was achieved by significantly more patients with the new combined method. This way the elevated heel rest and the vibrating device proved to be a good adjunct treatment along with the CPM used in routine clinical practice in the first place for the prevention of flexion contractures.

[News methods for second trimester screening of Down syndrome: statistical analysis of the use of nasal bone length and prenasal thickness]. / Új módszerek a Down-szindróma második trimeszterbeli ultrahangszurésére: az orrcsonthosszúság és a praenasalis lágyrész-vastagság mérésének statisztikai elemzése.

INTRODUCTION: Sonographic measurements of nasal bone length and prenasal soft tissue thickness are ultrasonographic methods for prenatal screening of Down syndrome. AIM: The aim of the authors was to create a local normogram for nasal bone length and prenasal soft tissue thickness measurements and to test the performance of different statistical methods. METHOD: Euploid (N = 1500) and trisomy 21 foetuses (N = 10) studied between April 2008 and December 2013 were included. Nasal bone length and prenasal thickness measurements were performed at the Medisono Fetal and Maternal Health Research Centre, Szeged, and cytogenetic tests were performed at the Department of Medical Genetics, University of Szeged, Hungary. Normograms were created with different number of patients (N = 100, 300, 500, 750. 1000 and 1500) and using 3 different statistical methods (linear regression, square-based regression, and box-plot analysis). RESULTS: The results indicated that at least 1000 measurements are strongly recommended for the normograms. The increase of patient number improved the efficacy of the normograms in each of the 3 statistical methods used for analysis. In general practice box-plots provides a better performance over the other screening methods. However, advanced level screening requires local linear normograms for the best screening results. CONCLUSION: The use of box-plots is recommended for the use in the daily practice but regression-based normograms are necessary for advanced prenatal screening.

Nasal bone length: prenasal thickness ratio: a strong 2D ultrasound marker for Down syndrome.

OBJECTIVES: To evaluate the feasibility of incorporating two-dimensional ultrasound measurements of nasal bone length (NBL) and prenasal thickness (PT) into the second-trimester anomaly scan and to determine whether the NBL : PT ratio could help in differentiating euploid and Down syndrome fetuses. METHOD: Two-dimensional measurements of NBL and PT were obtained from the midsagittal plane of the fetal head at 14-28 weeks of gestation in a Caucasian population at risk for aneuploidy. The screening performances of NBL, PT, and the ratios NBL : PT and PT : NBL were analyzed in euploid (n = 1330) and Down syndrome (n = 33) fetuses. RESULTS: Nasal bone length and PT alone showed strong correlations with Down syndrome (sensitivity: 76% at 1.88% and 2.35% false positive rate, respectively). However, the NBL : PT ratio showed an even stronger correlation with Down syndrome (false positive rate: 0.9%, sensitivity: 97%). The mean NBL : PT ratio showed a gradual increase from 1.48 to 1.79 (a 21.2% increase) between 14 and 28 weeks of gestation. CONCLUSION: Two-dimensional ultrasound measurements of NBL and PT, particularly the NBL : PT ratio, are highly sensitive markers for Down syndrome fetuses.

Occurrence and distribution of polycyclic aromatic hydrocarbons in surface water and sediments of the Danube River and its tributaries, Hungary.

Polycyclic aromatic hydrocarbons (PAHs) were identified and quantified in surface water and sediments from 9 sites in the Hungarian upper section of the Danube River and its tributaries in autumn 2012. The total PAH concentrations (sum of the concentrations of 17 individual PAH compounds) in water samples ranged from 67 to 96 ng L(-1), which were predominated by two- and three-ring PAHs. The total PAH concentrations in sediments ranged from 35.2 to 288.3 ng g(-1) dw. Four-ring PAHs including fluoranthene and pyrene were the dominant species in sediment samples. The spatial distribution of PAHs in sediments was site-specific. The highest benzo[a]pyrene equivalent concentration was determined at the site located near a hazardous waste incinerator. However, the comparison of the total PAH concentrations determined with other sections of the Danube River and the environmental quality standards revealed that the PAH concentrations are relatively low in the Hungarian upper section. A selected number of concentration ratios of specific PAH compounds reflected a pattern of pyrogenic input as a major source of PAHs.

The biological and biomechanical comparison of two bulk bone graft techniques used in case of dysplastic acetabulum.

BACKGROUND: The incorporation of bulk bone grafts in the replacement of dysplastic acetabulum is determined by the biological environment of the recipient site, the size of the contact surface, and the stability of the osteosynthesis used. Based on these, the present study compares the Harris acetabular plasty used routinely by us with the Radojevic L-shaped graft technique. METHODS: For our measurements, we used 20 hemi-pelvises removed from 10 cadavers. In 10 cases, acetabular plasty according to Harris, in 10 cases Radojevic L-plasty, was performed. The biological environment was analyzed; with geometric calculations, the contact surface was determined, and with a material testing apparatus, the primary stability of the osetosynthesis was measured. For the measurements, a new method was developed. RESULTS: The Radojevic technique provides a better biological environment for graft ingrowth. The contact surface is nearly twice as much as in Harris plasty. No significant difference was found in the primary stability of the osteosynthesis used. The deviation on the value of the stability measurements is explained by the differences in the bone quality of the cadavers used. CONCLUSIONS: Based on the 3 aspects examined, the Radojevic L-shaped graft technique has similar stability when compared to the Harris acetabular plasty, but provides better biological circumstances and larger graft host bone contact. Based on this, we started using the L-shaped technique in our department.

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

BACKGROUND: Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and speech impairment. The clinical symptoms suggested angelman syndrome. The aim of our study was to elucidate the genetic background of this case. RESULTS: This study reports the earliest diagnosed angelman syndrome in a 16-month-old Hungarian child. Cytogenetic results suggested a de novo Robertsonian-like translocation involving both q arms of chromosome 15: 45,XY,der(15;15)(q10;q10). Molecular genetic studies with polymorphic short tandem repeat markers of the fibrillin-1 gene, located in the 15q21.1, revealed that both arms of the translocated chromosome were derived from a single paternal chromosome 15 (isodisomy) and led to the diagnosis of angelman syndrome caused by paternal uniparental disomy. CONCLUSIONS: AS resulting from paternal uniparental disomy caused by de novo balanced translocation t(15q;15q) of a single paternal chromosome has been reported by other groups. This paper reviews 19 previously published comparable cases of the literature. Our paper contributes to the deeper understanding of the phenotype-genotype correlation in angelman syndrome for non-deletion subclasses and suggests that patients with uniparental disomy have milder symptoms and higher BMI than the ones with other underlying genetic abnormalities.

Trace metal and metalloid levels in surface water of Marcal River before and after the Ajka red mud spill, Hungary.

The aim of this study was to compare and assess the dissolved concentrations of trace elements (As, Zn, Hg, Cd, Cr, Ni, Pb and Cu) in surface water of Marcal River before and after the red mud spill that occurred in Ajka, western Hungary, in October 2010. The caustic sludge flooded the surrounding settlements and polluted the nearby Torna Creek, which flows through the Marcal and Raba rivers into the Danube. A total of 92 surface water samples were collected from the Marcal River in the period of 2007-2012 and analysed for dissolved trace metal(loid)s by atomic absorption spectroscopy method. After the spill, the water management authority initially focused on acid dosing of surface waters to lower pH and was effective in lowering both pH and metal(loid) concentrations. Among the dissolved trace metal(loid)s, arsenic and nickel levels were moderately higher in the Marcal River 2 years since the spill compared to that observed in the pre-disaster period. The concentrations of dissolved trace metal(loid)s did not exceed the European water quality standards and the US Environmental Protection Agency aquatic life criteria values (excluding one sample for cadmium).