Thrombotic Thrombocytopenic Purpura, Moschcowitz Syndrome

The authors present a case of a 16-year-old boy, who was referred to the hospital due to thrombocytopenia, anemia, proteinuria and hyperbilirubinemia. Based on the clinical picture and the laboratory data, thrombotic thrombocytopenic purpura (TTP) was diagnosed. The adequate therapy was immediately started. TTP is quite a rare entity. The etiology and the pathogenesis are not well defined. The authors summarize the different pathomechanisms, which may play a role in the development of TTP. Similarity to the hemolytic uremic syndrome (HUS), therapeutic possibilities, prognosis and the outcome are also discussed. The importance of the early diagnosis of TTP in childhood, and life-saving effect of the adequate treatment are emphasized

Genetikai és környezeti hatások kölcsönhatása a csecsemőkori kötődés alakulásában = Interaction of genetic and environmental influences in the development of infant attachment

Vizsgáltuk a genetikai és a környezeti tényezők hatásait, valamint a gén-környezet kölcsönhatást a korai kötődés jellemzőire. Fontosabb eredményeink: 1. A családi genotípusok és az öröklésmenet vizsgálatával megerősítettük az elsőszülött csecsemők DRD4 genotípusának és anyához való kötődésének asszociációját. A kötődés és a szülői DRD4 genotípusok között nincs összefüggés (Gervai et al., 2005). 2. Kimutattuk, hogy a BCsV elsőszülött csecsemők szülőkhöz való kötődése között szignifikáns egyezés van, és az apához való kötődés biztonsága összefügg a csecsemő DRD4 genotípusával (Tóth et al., előkészületben). 3. Kimutattuk, hogy a szerotonin transzporter gén 5-HTTLPR genotípusa nem függ össze a kötődéssel, de a DRD4 genotípussal együtt hat az idegenfélelem mértékére (Lakatos et al., 2003). 4. Kidolgoztuk a magyar kisgyermekes családokban a jelentős életesemények súlyozásának módját (Danis et al., elfogadva). Becsültük a környezeti stressz mértékét a csecsemők első életévére (Danis et al., előkészületben). 5. Kimutattuk a dezorganizált kötődés és az atipikus anyai viselkedés kapcsolatát és felfedeztük a csecsemők DRD4 genotípusának módosító hatását. A DRD4 gén 7-ismétlésű változatának hiányában az anyai atipikus viselkedés összefügg a dezorganizált kötődéssel, a 7-ismétlésű változatot hordozó csecsemők azonban érzéketlenek az anyai viselkedés atipikusságára. Az eredményeket közlő cikket meghívták a Social Neuroscience különszámába (Gervai et al., közlésre benyújtva). | The research concerned genetic and environmental effects on infant attachment, and gene-environment interactions. 1. We confirmed the association of firstborn infants? DRD4 genotype and attachment to the mother by examining family genotypes and the pattern of allele transmissions. Parental DRD4 genotypes were not associated with infant attachment (Gervai et al., 2005). 2. We found a significant association between infant attachment to the parents. Further, security of attachment to the father was associated with the infant?s DRD4 genotype (Tóth et al., in prep). 3. The 5-HTTLPR repeat polymorphism of the serotonin transporter promoter region was not associated with infant attachment, but together with the DRD4 genotype it affected the degree of stranger fear (Lakatos et al., 2003). 4. We obtained Hungarian weights for significant life events in families with young children (Danis et al., accepted). Using these, we estimated life-stress for the first year of infants? life (Danis et al., in prep). 5. We found an association between disorganized attachment and atypical maternal behavior, which was moderated by infant genotype. In the absence of the DRD4 7-repeat allele, atypical maternal behavior was strongly related to infant disorganization, but infants with the 7-repeat allele were insensitive to maternal atypical behavior. The paper describing the results was invited for publication in Social Neuroscience (Gervai et al., submitted)

Oxytocin receptor gene polymorphisms are associated with human directed social behavior in dogs (Canis familiaris)

The oxytocin system has a crucial role in human sociality; several results prove that polymorphisms of the oxytocin receptor gene are related to complex social behaviors in humans. Dogs' parallel evolution with humans and their adaptation to the human environment has made them a useful species to model human social interactions. Previous research indicates that dogs are eligible models for behavioral genetic research, as well. Based on these previous findings, our research investigated associations between human directed social behaviors and two newly described (−212AG, 19131AG) and one known (rs8679684) single nucleotide polymorphisms (SNPs) in the regulatory regions (5′ and 3′ UTR) of the oxytocin receptor gene in German Shepherd (N = 104) and Border Collie (N = 103) dogs. Dogs' behavior traits have been estimated in a newly developed test series consisting of five episodes: Greeting by a stranger, Separation from the owner, Problem solving, Threatening approach, Hiding of the owner. Buccal samples were collected and DNA was isolated using standard protocols. SNPs in the 3′ and 5′ UTR regions were analyzed by polymerase chain reaction based techniques followed by subsequent electrophoresis analysis. The gene–behavior association analysis suggests that oxytocin receptor gene polymorphisms have an impact in both breeds on (i) proximity seeking towards an unfamiliar person, as well as their owner, and on (ii) how friendly dogs behave towards strangers, although the mediating molecular regulatory mechanisms are yet unknown. Based on these results, we conclude that similarly to humans, the social behavior of dogs towards humans is influenced by the oxytocin system

Friendliness scores mean differences between the different 19131AG genotypes in German Shepherds (a) and Border Collies (b).

<p>*: p<0.05, **: p<0.01.</p

Sequencing primers and annealing temperatures used for PCR amplification of dog OXTR gene regions.

<p>Sequencing primers and annealing temperatures used for PCR amplification of dog OXTR gene regions.</p

Factor loads of the different variables on each behavioral scale.

<p>Behavioral variables that were related to any of the four scales according to the Principal Component Analysis and their factor loads are shown; values <0.2 are suppressed for the sake of clarity.</p

The three polymorphisms identified in the dog OXTR gene.

<p>The figure shows the canine OXTR gene with exons 1 & 2, the intron and the surrounding regulatory regions. Polymorphisms in the 5′ and 3′ UTR regions are marked with their rs number if applicable or with their position and base change.</p

Associations of the OXTR SNPs with the behavioral scales.

<p>: p<0.01,</p><p>: p<0.05,</p><p>ns.: p>0.05.</p

Behavioral variables coded in each test.

<p>Definitions for the 0–3 scores of each behavioral variable coded during the five tests are provided.</p