The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis

A nonsense variant (p.W358X) of human pancreatic lipase related protein 2 (PNLIPRP2) is present in different ethnic populations with a high allele frequency. In cell culture experiments, the truncated protein mainly accumulates inside the cells and causes endoplasmic reticulum stress. Here, we tested the hypothesis that variant p.W358X might increase risk for chronic pancreatitis through acinar cell stress. We sequenced exon 11 of PNLIPRP2 in a cohort of 256 subjects with chronic pancreatitis (152 alcoholic and 104 non-alcoholic) and 200 controls of Hungarian origin. We observed no significant difference in the distribution of the truncation variant between patients and controls. We analyzed mRNA expression in human pancreatic cDNA samples and found the variant allele markedly reduced. We conclude that the p.W358X truncation variant of PNLIPRP2 is expressed poorly and has no significant effect on the risk of chronic pancreatitis

A csontokon megjelenő fejlődési rendellenességek általános jellemzői

Before the 20th century, developmental anomalies were usually met only as peculiarities of cultural history. Later, more and more developmental anomalies were described and statistically characterized, but mostly in contemporary populations. This field of bioarcheological research has only started gaining more attention in the last decades. The aim of this current paper is to describe main groups of developmental diseases using examples from osteological series recovered in Hungary. Among the most commonly occurring anomalies some rare conditions will also be explained through cases of significant interest for paleopathology or medical history. We will describe some developmental anomalies of the skull such as condyles and conoid hypo- and hyperplasia, Stafne’s defects, suture closure anomalies, supernumerary bones or absence of bones, and the anomalies of the cranial base. A few postcranial developmental anomalies will also be presented. General descriptions and case studies will be completed with statistical data, criteria of differential diagnosis, and/or introduction of accompanying anomalies

Human Remains in the Central Area of a Bronze Age Multi-layered Settlement at Boconád-Alatka-puszta

In 2014, we had the opportunity to study a Bronze Age multilayered settlement at Boconád-Alatka-puszta within the framework of a KEOP project. The site is located in the southern part of Heves County, northeast of Boconád. On the basis of archaeological research, the examined settlement layers can be connected to the Hatvan culture. In the central part of the settlement, surrounded by a ditch, human bones, i.e. fragments of skeletal bones and skulls of a child and an adult were recovered, concentrated in the same area, at the lowerpart of the plowed layer and the gray layer below it. Shell jewellery and a bone tool observed at the level ofthe bones were presumably the remnants of grave goods. It is certain that, taking advantage of the features of the place, the burials might take place after the abandonment of the settlement. Due to the extent of the disturbance, the results of scientific research may give the answer to who buried here and when

Paleopathological changes in the Carpathian Basin in the 10th and 11th centuries

The existence of skeletal materials and accompanying archaeological subsistence data recording the shift from nomadic animal husbandary to sedentary agriculture during the 10th and 11th centuries in the Carpathian Basin offers the opportunity to document shifts in the frequencies in various disease categories. On the basis of the data from the literature of the paleopathological cases, skeletal samples representing 714 tenth and 970 eleventh century individuals are grouped for indications of environmental stress: specific disease stress (porotic hyperostosis), infections, traumatic lesions, degenerative arthritis and genetic and/or environment indicators (developmental anomalies). The frequency of lesions in the samples should not be extrapolated to the larger population, but may only be used as an indicator of a trend in the appearance of the diseases. The results suggest some significant shifts for some disease and little change for other diseases during the transition from a nomadic to a more sedentary way of life

Török hódoltság kori idegen etnikumok összehasonlító embertani elemzése = Comparative anthropological analysis of foreign populations in Turkish occupation of Hungary

A 3 éves kutatási periódus ideje alatt 7 - antropológiai szempontból kevéssé ismert - 16-17. századi temető embertani vizsgálatát végeztük el. A koponya metrikus adataira alapozva klaszteranalízist alkalmaztunk, melynek eredményeiből kiderült, hogy a török hódoltság idején betelepült népességek az összehasonlításhoz felhasznált késő középkori magyar temetőktől jól elkülönülő csoportot alkotnak. A vizsgálatba bevont romániai és délszláv temetők közül csupán a dél-boszniai Raąka Gora mutatott párhuzamot a Magyarországon letelepedett idegen etnikumokkal. A csontvázleletek patológiai vizsgálatának eredménye rámutatott, hogy a vizsgált népességek életmódjukat tekintve 2 csoportba sorolhatók: egy békés körülmények közt élő földművelő-állattenyésztő és egy időnként harci tevékenységet is folytató csoportba. Az elemzett lelet együttesek körében megfigyelt nagyszámú, fertőzéses eredetre utaló kezdeti stádiumú csontelváltozás legyengült immunrendszerre utal. A magyar területen élő idegen eredetű népességek eltérő nyelvi és vallási kultúrája következményeként feltételezett endogámiát, a koponyacsontokon manifesztálódott fejlődési rendellenességek felhalmozódásával, a vizsgált temetők közül kettőnél igazoltuk. A kutatómunka eredményei alapul szolgálnak egy magyar, a paleohisztológiai rész pedig egy németországi PhD disszertáció elkészítéséhez, továbbá egy, a jövőben benyújtandó nemzetközi (magyar-német) pályázathoz. | A comparative anthropological examination of skeletal material dating from the Turkish occupation of Hungary (16th-17th centuries AD) belonging to 7 foreign ethnic groups was carried out during a 3-year research period. Cluster analyses were applied to find out the relationships between these non-Hungarian groups and the late medieval Hungarian populations, as well as the origin of the immigrated groups. Southern Slav and Romanian series were also used for comparison. Our results indicated that the foreign populations of this study are separated in a distinct group and revealed a close relationship with a southern Bosnian Raąka Gora. According to the results of our palaeopathological examinations, the analyzed populations could be classified into two groups: a quiet agro-pastoralist population and another group with a more violent lifestyle. The large number of chronic infectious bony lesions refers to the poor state of health of these populations. Endogamy was proved in two of the examined series by the high frequency of developmental anomalies on the skull. The main results of our study served as a basis for a PhD dissertation, and the palaeohistological results provided an important source for another PhD thesis. A new international project is also planned on the basis of our results

NF-κB is Required for Survival of Immature Auditory Hair Cells In Vitro

Damage to auditory hair cells in the inner ear as a consequence of aging, disease, acoustic trauma, or exposure to ototoxins underlies most cases of hearing impairment. Because the mammalian ear cannot replace damaged hair cells, loss of hearing is irreversible and progressive throughout life. One of the current goals of inner ear biology is to develop therapeutic strategies to prevent hair cell degeneration. Although important progress has been made in discovering factors that mediate hair cell death, very little is known about the molecular pathway(s) that signal survival. Here we considered the role of NF-κB, a ubiquitous transcription factor that plays a major role in the regulation of many apoptosis- and stress-related genes, in mediating hair cell survival. NF-κB was detected in a constitutively active form in the organ of Corti of 5-day-old rats. Selective inhibition of NF-κB through use of a cell-permeable inhibitory peptide in vitro caused massive degeneration of hair cells within 24h of inhibitor application. Hair cell death occurred through an apoptotic pathway through activation of caspase-3 and may involve transcriptional down-regulation of the gadd45β gene, an anti-apoptotic NF-κB target. In view of our results, it seems likely that NF-κB may participate in normal hair cell functio