Zahnanomalien in der Neuropädiatrie

Dental anomalies in children with neuropediatric disorders are easy to diagnose and can be essential in the diagnosis of different entities. They are present in well-known disorders as Incontinentia pigmenti, but also in rare diseases as in Kohlschütter-Tönz syndrome or the recently described ataxia, delayed dentition and hypomyelination. Anomalies of dental shape, enamel and in this case also teeth color, dental number and eruption are all encountered. Knowledge of these abnormalities is important for both clinical geneticist and child neurologist.     

Genetik der koronaren Herzkrankheit und des Herzinfarkts

Because of their high prevalence, cases of coronary artery disease (CAD) and myocardial infarction (MI) are frequently found when asking for a patient’s family history. It is common knowledge that a positive familial history constitutes a risk factor for CAD in its own right, in addition to smoking, increased alcohol intake, diabetes, obesity, hypertension, and hyperlipidemia. Nevertheless, for correct risk assessment it is crucial to accurately distinguish between sporadic and true familial cases of CAD and MI. Familial disposition is present when at least one male first-grade relative under the age of 55 or one female first-grade relative under the age of 65 has/had been diagnosed with myocardial infarction or significant coronary artery disease. In the review presented here, we compile the relevant epidemiological and genetic studies that constitute the scientific basis of this risk assessment. Furthermore, a short overview of the state of the art of genetic CAD/MI research is given.     

Biodiversity associated with restored small-scale mussel habitats has restoration decision implications

The global loss of marine ecosystem engineers has caused an unprecedented decline in biodiversity. Although wild shellfish habitats have been shown to support biodiverse ecosystems, little is known about how biodiversity is altered by restored shellfish habitats, particularly mussels. To explore the biodiversity response to restored mussel habitats we deposited mussels on the seafloor in 1.5?×?1.5 m plots across a gradient of benthic environments. To understand a holistic community response, this study looks at the response of three faunal classifications over 1 year: infauna, epifauna, and pelagic fauna, compared with adjacent control plots (no mussels). The restored mussel habitats recorded 42 times more demersal fish than control areas, while macroalgae and mobile benthic invertebrates had over a twofold increase in abundance. Overall, the addition of mussels to the seafloor resulted in a general reduction of infaunal abundance and biodiversity, but an increase in epifaunal and pelagic faunal abundances, specifically from those species that benefit from benthic habitat complexity and an increase in food availability. From a management perspective, we highlight location-specific differences to consider for future restoration efforts, including environmental conditions and potential observed factors such as nearby sources of species, particularly predators, and relevant demersal fish ranges. Ultimately, measuring biodiversity responses in small-scale studies will serve as a valuable guide for larger scale restoration efforts and this study recommends considerations to enhance biodiversity outcomes in restored mussel habitats.

     

Differential contribution of PB1-F2 to the virulence of highly pathogenic H5N1 influenza A virus in mammalian and avian species

Highly pathogenic avian influenza A viruses (HPAIV) of the H5N1 subtype occasionally transmit from birds to humans and can cause severe systemic infections in both hosts. PB1-F2 is an alternative translation product of the viral PB1 segment that was initially characterized as a pro-apoptotic mitochondrial viral pathogenicity factor. A full-length PB1-F2 has been present in all human influenza pandemic virus isolates of the 20(th) century, but appears to be lost evolutionarily over time as the new virus establishes itself and circulates in the human host. In contrast, the open reading frame (ORF) for PB1-F2 is exceptionally well-conserved in avian influenza virus isolates. Here we perform a comparative study to show for the first time that PB1-F2 is a pathogenicity determinant for HPAIV (A/Viet Nam/1203/2004, VN1203 (H5N1)) in both mammals and birds. In a mammalian host, the rare N66S polymorphism in PB1-F2 that was previously described to be associated with high lethality of the 1918 influenza A virus showed increased replication and virulence of a recombinant VN1203 H5N1 virus, while deletion of the entire PB1-F2 ORF had negligible effects. Interestingly, the N66S substituted virus efficiently invades the CNS and replicates in the brain of Mx+/+ mice. In ducks deletion of PB1-F2 clearly resulted in delayed onset of clinical symptoms and systemic spreading of virus, while variations at position 66 played only a minor role in pathogenesis. These data implicate PB1-F2 as an important pathogenicity factor in ducks independent of sequence variations at position 66. Our data could explain why PB1-F2 is conserved in avian influenza virus isolates and only impacts pathogenicity in mammals when containing certain amino acid motifs such as the rare N66S polymorphism.