Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption

Disaccharide intolerance I or congenital sucrase-isomaltase deficiency (CSID) is a disorder leading to maldigestion of disaccharides, which is autosomal recessively inherited. Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges that affect the transport, the processing, or the function of the SI protein. None of our patients had known mutations for CSID. Our analyses revealed 43 SI variants in total, 15 within exons and one at a splice site. Eight of the exonic mutations lead to amino acid exchanges, causing hypomorph or null alleles. One new variation affects a splice site, which is also predicted to result in a null allele. All potential pathological alterations were present on one allele only. In six out of the 11 patients the phenotype of CSID could be explained by compound heterozygosity.

Bevezető: utak és úton lévők

A kvalitatív módszerekkel nyert kutatási eredményeink értelmezése során a transznacionális tér, a transznacionális és az etnikai migráció elméleti és szemléleti kereteit egyaránt figyelembe vettük. Az általunk vizsgált migrációs folyamatok transznacionális térben zajlanak, és a transznacionális irodalomban leírt migráns élethelyzetek, gyakorlatok – különböző nemzetállamokban elhelyezkedő lokalitásokhoz való egyidejű, bár eltérő intenzitású kötődés, kapcsolatok – több példájával is találkoztunk. Ludger Pries nyomán a transznacionális migrációt és a transznacionális migráns alakját olyan ideáltípusnak tekintettük, amelyhez az egyes migráns utak és helyzetek csupán közelítenek, és empirikus eredményeink alapján azt mondhatjuk, hogy a valóban plurilokális, vagyis a két helyhez való egyidejű, intenzív és tartós kötődés s az ehhez kapcsolódó gyakorlatok csupán a migránsok kisebbségét, illetve a migrációs életpályák egy-egy szakaszát jellemzik. A vizsgált migrációs folyamatokban az etnicitás strukturális tényezőként és a migráns tapasztalatok értelmezési kereteként egyaránt perdöntő szerepet játszik. Az etnikai migráció szakirodalomban tárgyalt mindhárom magyarázó modellje – az anyaországba való hazatérés, a gazdasági okokból való, illetve a kisebbségi létben elszenvedett sérelmek által ösztönzött migráció – alkalmas a migrációt kiváltó és mozgató okok elemzésére, a migráns narratívák értelmezésére, azt azonban nem állíthatjuk, hogy bármelyikük kizárólagos érvényre tehet szert. Más kutatókhoz hasonlóan Rogers Brubaker meghatározását tartjuk a leginkább gyümölcsözőnek, aki az etnikai migráció tág értelmezését használva minden olyan vándorlási folyamatot etnikai migrációnak tekint, amelyben az etnicitás kulturális és szimbolikus tőkeként szabályozó szerepet játszik. This special issue of Tér és Társadalom presents some results of an international research project carried out by researchers from Switzerland, Hungary and Serbia between 2010 and 2012. The topic of the research was “Integrating (Trans-)national Migrants in Transition States” (TRANSMIG) and was financed by the Swiss National Science Foundation (SNSF). The research aimed to explore and interpret migration flows from the Vojvodina (Serbia) to Hungary and from ex-Yugoslav republics to the Vojvodina. In the first period of the last twenty years, wars which contributed to the disintegration of Yugoslavia and the formation of new national states have caused migration flows. After the change of the millennium, educational migration of Vojvodina Hungarian youth can be considered the most important migratory movement from the Vojvodina to Hungary. Labour (economic) migration also occurs, but this cannot be understood as a one-way movement, since in the Hungarian–Serbian border zone migrants from the Vojvodina who already resettled to Hungary commute to the Vojvodina. While interpreting the qualitative research data the theoretical frameworks and approaches of transnational space, transnationalism and ethnic migration were taken into consideration. The migration movement in question occurs in a transnational social space where migrants are in constant motion. By their movements and actions that space is continually recreated. With Ludger Pries we see a transnational migrant as an ideal type to whom individual migratory movements and positions only approximate. Based on our empirical results we can conclude that real pluri-local, intensive and long-lasting bonding to two places at the same time and the relating practices only characterise a minority of migrants and certain sections of migratory careers. In the migration processes studied, ethnicity as a term is needed as a “structural factor” and frame of interpretation to approach migrant experiences. All three explanatory models for ethnic migration – return migration, economic migration, migration motivated by grievances suffered in a minority situation – are suitable to analyse the reasons that initiated migration and kept it in motion. They are helpful in interpreting migrant narratives. However, none of the reasons can claim exclusive validity. Agreeing with other researchers, we find Roger Brubaker’s definition the most useful: Ethnic migration should be comprehended in a broad sense. In addition, every migration can be considered as “ethnically” motivated where ethnicity plays a dominant role as a cultural and symbolic capital.

Emergence of Canine Distemper Virus Strains With Modified Molecular Signature and Enhanced Neuronal Tropism Leading to High Mortality in Wild Carnivores

An ongoing canine distemper epidemic was first detected in Switzerland in the spring of 2009. Compared to previous local canine distemper outbreaks, it was characterized by unusually high morbidity and mortality, rapid spread over the country, and susceptibility of several wild carnivore species. Here, the authors describe the associated pathologic changes and phylogenetic and biological features of a multiple highly virulent canine distemper virus (CDV) strain detected in and/or isolated from red foxes (Vulpes vulpes), Eurasian badgers (Meles meles), stone (Martes foina) and pine (Martes martes) martens, from a Eurasian lynx (Lynx lynx), and a domestic dog. The main lesions included interstitial to bronchointerstitial pneumonia and meningopolioencephalitis, whereas demyelination-the classic presentation of CDV infection-was observed in few cases only. In the brain lesions, viral inclusions were mainly in the nuclei of the neurons. Some significant differences in brain and lung lesions were observed between foxes and mustelids. Swiss CDV isolates shared together with a Hungarian CDV strain detected in 2004. In vitro analysis of the hemagglutinin protein from one of the Swiss CDV strains revealed functional and structural differences from that of the reference strain A75/17, with the Swiss strain showing increased surface expression and binding efficiency to the signaling lymphocyte activation molecule (SLAM). These features might be part of a novel molecular signature, which might have contributed to an increase in virus pathogenicity, partially explaining the high morbidity and mortality, the rapid spread, and the large host spectrum observed in this outbreak.

Mosaic arthroplasty of the medial femoral condyle in horses - an experimental study.

One Arabian and 5 Hungarian half-bred horses were used to study the macroscopic and microscopic survival of autologous osteochondral grafts in the weight-bearing surface of the medial femoral condyle (MFC). Grafts were harvested from the cranial surface of the medial femoral trochlea (MFT) under arthroscopic control. Three of them were transplanted into the weight-bearing surface of the contralateral MFC using an arthrotomy approach. Three months later this transplantation procedure was repeated on the opposite stifle joints in the same animals, but at that time transplantation was performed arthroscopically. Follow-up arthroscopy was carried out 12 months after the first operations, and biopsies were taken from both the recipient and the donor sites for histological examination. During follow-up arthroscopy, the transplanted areas looked congruent and smooth. Microscopically, the characteristics of hyaline cartilage were present in 5 out of the 10 biopsies examined; however, in the other half of biopsies glycosaminoglycan (GAG) loss and change in the architecture of the transplanted cartilage was observed. In a 16-year-old horse, all grafts broke during harvesting, and thus transplantation was not performed. No radiological signs of osteoarthritic changes were detected 9 to 12 months after the operations in the donor and recipient joints. Clinically, no lameness or effusion was present three months after the transplantations.

Solute transport in crystalline rocks at Äspö — II: Blind predictions, inverse modelling and lessons learnt from test STT1

Based on the results from detailed structural and petrological characterisation and on up-scaled laboratory values for sorption and diffusion, blind predictions were made for the STT1 dipole tracer test performed in the Swedish A¨ spo¨ Hard Rock Laboratory. The tracers used were nonsorbing, such as uranine and tritiated water, weakly sorbing 22Na+, 85Sr2 +, 47Ca2 +and more strongly sorbing 86Rb+, 133Ba2 +, 137Cs+. Our model consists of two parts: (1) a flow part based on a 2D-streamtube formalism accounting for the natural background flow field and with an underlying homogeneous and isotropic transmissivity field and (2) a transport part in terms of the dual porosity medium approach which is linked to the flow part by the flow porosity. The calibration of the model was done using the data from one single uranine breakthrough (PDT3). The study clearly showed that matrix diffusion into a highly porous material, fault gouge, had to be included in our model evidenced by the characteristic shape of the breakthrough curve and in line with geological observations. After the disclosure of the measurements, it turned out that, in spite of the simplicity of our model, the prediction for the nonsorbing and weakly sorbing tracers was fairly good. The blind prediction for the more strongly sorbing tracers was in general less accurate. The reason for the good predictions is deemed to be the result of the choice of a model structure strongly based on geological observation. The breakthrough curves were inversely modelled to determine in situ values for the transport parameters and to draw consequences on the model structure applied. For good fits, only one additional fracture family in contact with cataclasite had to be taken into account, but no new transport mechanisms had to be invoked. The in situ values for the effective diffusion coefficient for fault gouge are a factor of 2–15 larger than the laboratory data. For cataclasite, both data sets have values comparable to laboratory data. The extracted Kd values for the weakly sorbing tracers are larger than Swedish laboratory data by a factor of 25–60, but agree within a factor of 3–5 for the more strongly sorbing nuclides. The reason for the inconsistency concerning Kds is the use of fresh granite in the laboratory studies, whereas tracers in the field experiments interact only with fracture fault gouge and to a lesser extent with cataclasite both being mineralogically very different (e.g. clay-bearing) from the intact wall rock.

Multiple tree-ring proxies (earlywood width, latewood width and δ13C) from pedunculate oak (Quercus robur L.), Hungary

The aim of this study was to analyse the effects of climatic factors (i.e. monthly mean temperature and total precipitation) on radial growth (earlywood width, latewood width, and total ringwidth) and on latewood stable carbon isotope composition in a pedunculate oak (Quercus robur L) stand in northeastern Hungary. Earlywood widths showed the weakest common variance and lack of statistically significant relationship to monthly precipitation and temperature. Latewood width showed the strongest common chronological signal. Correlation analysis with the monthly climate series pointed out the strongest positive/negative correlation with June precipitation for latewood width/stable carbon isotope ratio. These parameters shared the strongest climatic response also for seasonal scale since the highest correlation coefficients, 0.49 and -0.62 for latewood width and stable carbon isotope ratio, respectively, were obtained for both with a 10-month precipitation total (from previous November to current August of the growing season). A combined parameter, derived as difference between latewood width and stable carbon isotope indices showed improved statistical relationship compared to the hydroclimatic calibration target both for local and regional spatial scales. Spatial correlation analysis indicated that the hydroclimatic signal encoded in these moisture sensitive tree-ring parameters from Bakta Forest is expected to be representative for the northeastern Carpathians and for the large part of the Great Hungarian Plain. In addition, the hydroclimatic signal of latewood width chronology was compared to three independent records. Results showed that neither the strength nor the rank of the similarity of the local hydroclimate signals were stable throughout the past two centuries. Future palaeo(hydro)climatological efforts targeting the Carpathian(-Balkan) region are recommended to track carefully the spatial domains for which a given, local, proxy-derived hydroclimate reconstruction might provide useful information.

A 13,600-year diatom oxygen isotope record from the South Carpathians (Romania): Reflection of winter conditions and possible links with North Atlantic circulation changes

This study provides a continuous lateglacial and Holocene record of diatom silica oxygen isotope changes (delta O-18(DIAT)) in a subalpine lake sediment sequence obtained from the Retezat Mts (Taul dintre Brazi, 1740 m a.s.l.). This through-flow, shallow, high-altitude lake with a surface area of only 0.4 ha has short water residence time and is predominantly fed by snowmelt and rainwater. Its delta O-18(DIAT) record principally reflects the oxygen isotope composition of the winter and spring precipitation, as diatom blooms occur mainly in the spring and early summer. Hence, changes in delta O-18(DIAT) are interpreted as seasonal scale changes: in the amount of winter precipitation. Low oxygen isotope values (27-28.5 parts per thousand) occurred during the lateglacial until 12,300 cal BP, followed by a sharp increase thereafter. In the Holocene delta O-18(DIAT) values ranged from 29 to 31 parts per thousand until 3200 cal BP, followed by generally lower values during the late Holocene (27-30 parts per thousand). Short-term decreases in the isotopic values were found between 10,140-9570, 9000-8500, 7800-7300, 6300-5800, 5500-5000 and at 8015, 4400, 4000 cal BP. After 3200 cal BP a decreasing trend was visible with the lowest values between 3100-2500 and after 2100 cal BP The general trend in the record suggests that contribution of winter precipitation was generally lower between 11,680 and 3200 cal BP, followed by increased contribution during the last millennia. The late Holocene decrease in delta O-18(DIAT) shows good agreement with the speleothem delta O-18, lake level and testate amoebae records from the Carpathian Mountains that also display gradual delta O-18 decrease and lake level/mire water table level rise after 3200 cal BR Strong positive correlation with North Atlantic circulation and solar activity proxies, such as the Austrian and Hungarian speleothem records, furthermore suggested that short-term increases in the isotopic ratios in the early and mid Holocene are likely connectable to high solar activity phases and high frequency of positive North Atlantic Oscillation indexes that may have resulted in decreased winter precipitation in this region.

Die Geschichte einer Landschaft - Anwendung Optisch Stimulierter Lumineszenz im Wauwilermoos

Je länger ein Mineralkorn der radioaktiven Strahlung ausgesetzt ist, desto intensive ist seine Lumineszenz. Weil diese häufig an den Quarzkörnern gemessen werden kann, lässt sich der Effekt zur Datierung von Sedimenten nutzen. Die Methode liefert trotz Unsicherheiten interessante Resultate für das Wauwilermoos.