an observational study

Pulmonary tuberculosis (PTB) results in lung functional impairment and there are no surrogate markers to monitor the extent of lung involvement. We investigated the clinical significance of S100A12 and soluble receptor for advanced glycation end-products (sRAGE) for predicting the extent of lung involvement. We performed an observational study in India with 119 newly diagnosed, treatment naïve, sputum smear positive, HIV-negative PTB patients and 163 healthy controls. All patients were followed-up for six months. Sociodemographic variables and the serum levels of S100A12, sRAGE, esRAGE, HMGB-1, TNF-α, IFN-γ and CRP were measured. Lung involvement in PTB patients was assessed by chest radiography. Compared with healthy controls, PTB patients had increased serum concentrations of S100A12 while sRAGE was decreased. S100A12 was an independent predictor of disease occurrence (OR 1.873, 95%CI 1.212–2.891, p = 0.004). Under DOTS therapy, S100A12 decreased significantly after 4 months whereas CRP significantly decreased after 2 months (p < 0.0001). Importantly, although CRP was also an independent predictor of disease occurrence, only S100A12 was a significant predictor of lung alveolar infiltration (OR 2.60, 95%CI 1.35–5.00, p = 0.004). These results suggest that S100A12 has the potential to assess the extent of alveolar infiltration in PTB

Annotation of primate miRNAs by high throughput sequencing of small RNA libraries

BACKGROUND: In addition to genome sequencing, accurate functional annotation of genomes is required in order to carry out comparative and evolutionary analyses between species. Among primates, the human genome is the most extensively annotated. Human miRNA gene annotation is based on multiple lines of evidence including evidence for expression as well as prediction of the characteristic hairpin structure. In contrast, most miRNA genes in non-human primates are annotated based on homology without any expression evidence. We have sequenced small-RNA libraries from chimpanzee, gorilla, orangutan and rhesus macaque from multiple individuals and tissues. Using patterns of miRNA expression in conjunction with a model of miRNA biogenesis we used these high-throughput sequencing data to identify novel miRNAs in non-human primates. RESULTS: We predicted 47 new miRNAs in chimpanzee, 240 in gorilla, 55 in orangutan and 47 in rhesus macaque. The algorithm we used was able to predict 64% of the previously known miRNAs in chimpanzee, 94% in gorilla, 61% in orangutan and 71% in rhesus macaque. We therefore added evidence for expression in between one and five tissues to miRNAs that were previously annotated based only on homology to human miRNAs. We increased from 60 to 175 the number miRNAs that are located in orthologous regions in humans and the four non-human primate species studied here. CONCLUSIONS: In this study we provide expression evidence for homology-based annotated miRNAs and predict de novo miRNAs in four non-human primate species. We increased the number of annotated miRNA genes and provided evidence for their expression in four non-human primates. Similar approaches using different individuals and tissues would improve annotation in non-human primates and allow for further comparative studies in the future

Zur Fauna der Zikaden, Wanzen und Augenfliegen des Kaiserstuhls: (Hemiptera: Auchenorrhyncha et Heteroptera; Diptera: Pipunculidae)

On the fauna of hemipteran bugs (Hemiptera: Auchenorrhyncha et Heteroptera) and big-headed flies (Diptera: Pipunculidae) of the Kaiserstuhl, southwestern Germany. – Field records of 157 Auchenorrhyncha species gathered on field excursionsto five sites in the Kaiserstuhl Hill during the 9th Auchenorrhyncha Meeting, June 14th - 15th 2002, are presented. Particularly noteworthy was the first German record of the leafhopper Arocephalus sagittarius Rib., which was so far only known from southwestern Europe, and the very rare Edwardsiana smreczynskii Dwor., which is known only from less than 10 localities in Poland, Slowakia, Germany, Switzerland and France. Two further species, which are known in Germany only from this locality, notably Cixidia pilatoi D'Urso &amp; Gugl. and Phlepsius intricatus (H.-S.), were no more found

Zur Fauna der Zikaden, Wanzen und Augenfliegen des Kaiserstuhls: (Hemiptera: Auchenorrhyncha et Heteroptera; Diptera: Pipunculidae)

On the fauna of hemipteran bugs (Hemiptera: Auchenorrhyncha et Heteroptera) and big-headed flies (Diptera: Pipunculidae) of the Kaiserstuhl, southwestern Germany. – Field records of 157 Auchenorrhyncha species gathered on field excursionsto five sites in the Kaiserstuhl Hill during the 9th Auchenorrhyncha Meeting, June 14th - 15th 2002, are presented. Particularly noteworthy was the first German record of the leafhopper Arocephalus sagittarius Rib., which was so far only known from southwestern Europe, and the very rare Edwardsiana smreczynskii Dwor., which is known only from less than 10 localities in Poland, Slowakia, Germany, Switzerland and France. Two further species, which are known in Germany only from this locality, notably Cixidia pilatoi D'Urso & Gugl. and Phlepsius intricatus (H.-S.), were no more found.Die Zeitschrift "Cicadina" (vormals "Beiträge zur Zikadenkunde") ist ein Publikationsorgan für deutsch- und englischsprachige Originalarbeiten aus den Gebieten der Ökologie und Biologie, Systematik und Taxonomie sowie Zoogeographie und Faunistik von Zikaden (Fulgoromorpha und Cicadomorpha, Auchenorrhyncha) sowie Psylloidea (Blattflöhe) und weiterer systematisch und ökologisch assoziierter Artengruppen mit einem Schwerpunkt auf der Westpaläarktis. Bisher sind 12 Hefte und 1 Supplementheft erschienen (siehe Archiv). Ab dem Heft 13 (2013) erscheint die Zeitschrift als Online-Zeitschrift (open access) an der Martin-Luther-Universität Halle-Wittenberg.The Journal „Cicadina“ (formerly „Beiträge zur Zikadenkunde“) is a forum for covering the fields of ecology and biology, systematics and taxonomy as well as zoogeography and faunistics, published in German or English. It focuses on Fulgoromorpha (planthoppers), Cicadomorpha (leafhoppers) as well as on Psylloidea (jumping plant lice) and other groups which are associated systematically or ecologically. So far 17 issues and 1 supplement volume were published (see below and archive). With issue 13 (2013) the journal is an open access journal hosted by the Martin-Luther University Halle-Wittenberg (Germany)

The STAR collaborative nonsuicidal self-injury study: methods and sample description of the face-to-face sample

Background Nonsuicidal self-injury (NSSI) is highly prevalent in adolescents and young adults worldwide. It is linked to a broad variety of mental disorders and an increased suicide risk. Despite its high prevalence, research on the underlying mechanisms and on potential risk and resilience factors for maintaining or quitting NSSI remains scarce. This manuscript presents an overview of the “Self-injury: Treatment-Assessment-Recovery” (STAR) collaboration, which aimed to address these gaps. Methods We investigated the natural course of NSSI as well as its social, psychological, and neurobiological predictors (observational study; OS). OS data collection occurred at four timepoints (baseline [T0], 4 [post, T1], 12 [follow-up (FU), T2], and 18 [FU, T3] months after baseline) for the NSSI group, which was compared to a healthy control (HC) group at T0 only. Online self-report was used at all timepoints, while semi-structured interviews (face-to-face (f2f)) were conducted at T0 and T3. At T0 only, we conducted ecological momentary assessment and neurobiological investigations. Here, we present the general methodology and sample characteristics of the completed OS including the f2f subprojects, while other subprojects are not within the scope of this paper. Sample description The OS sample consists of 343 participants at T0 (180 NSSI, 163 HC). Mean age in the NSSI group (T0) was 18.1 years (SD = 2.09, range: 15–25), gender-related data is available for 166: 156 = female, 7 = male, 3 = transgender, 10 = not disclosed). In the HC group, mean age (T0) was 19.1 years (SD = 2.35, range: 15–25) (142 = female, 21 = male). At T1, 128 (71.11%) of the NSSI participants completed the questionnaires, at T2 125 (69.44%) and at T3 104 (57.78%). In the fMRI subproject, 126 adolescents participated (NSSI = 66, HC = 60, 100% female; mean age (T0): NSSI = 18.10 years, SD = 2.21; HC = 19.08, SD = 2.36). Conclusion Understanding predictors is of utmost importance for adequate diagnosis and intervention for NSSI. Our OS applied a multimodal investigation of social, psychological, and neurobiological parameters and is the largest sample of adolescents with NSSI to date including follow-up assessments. As health care providers require specific knowledge to develop new treatments, we believe that our in-depth assessments can potentially enhance care for youths engaging in NSSI

The genetic history of Ice Age Europe

Modern humans arrived in Europe ~45,000 years ago, but little is known about their genetic composition before the start of farming ~8,500 years ago. Here we analyse genome-wide data from 51 Eurasians from ~45,000-7,000 years ago. Over this time, the proportion of Neanderthal DNA decreased from 3-6% to around 2%, consistent with natural selection against Neanderthal variants in modern humans. Whereas there is no evidence of the earliest modern humans in Europe contributing to the genetic composition of present-day Europeans, all individuals between ~37,000 and ~14,000 years ago descended from a single founder population which forms part of the ancestry of present-day Europeans. An ~35,000-year-old individual from northwest Europe represents an early branch of this founder population which was then displaced across a broad region, before reappearing in southwest Europe at the height of the last Ice Age ~19,000 years ago. During the major warming period after ~14,000 years ago, a genetic component related to present-day Near Easterners became widespread in Europe. These results document how population turnover and migration have been recurring themes of European prehistory.Nature 534, 200-205. (2016)0028-083

Transcription Factors Are Targeted by Differentially Expressed miRNAs in Primates

MicroRNAs (miRNAs) are small RNA molecules involved in the regulation of mammalian gene expression. Together with other transcription regulators, miRNAs modulate the expression of genes and thereby potentially contribute to tissue and species diversity. To identify miRNAs that are differentially expressed between tissues and/or species, and the genes regulated by these, we have quantified expression of miRNAs and messenger RNAs in five tissues from multiple human, chimpanzee, and rhesus macaque individuals using high-throughput sequencing. The breadth of this tissue and species data allows us to show that downregulation of target genes by miRNAs is more pronounced between tissues than between species and that downregulation is more pronounced for genes with fewer binding sites for expressed miRNAs. Intriguingly, we find that tissue- and species-specific miRNAs target transcription factor genes (TFs) significantly more often than expected. Through their regulatory effect on transcription factors, miRNAs may therefore exert an indirect influence on a larger proportion of genes than previously thought

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation

Complex neuropsychiatric-cardiac syndromes can be genetically determined. For the first time, the authors present a syndromal form of short QT syndrome in a 34-year-old German male patient with extracardiac features with predominant psychiatric manifestation, namely a severe form of secondary high-functioning autism spectrum disorder (ASD), along with affective and psychotic exacerbations, and severe dental enamel defects (with rapid wearing off his teeth) due to a heterozygous loss-of-function mutation in the CACNA1C gene (NM_000719.6: c.2399A > C; p.Lys800Thr). This mutation was found only once in control databases; the mutated lysine is located in the Cav1.2 calcium channel, is highly conserved during evolution, and is predicted to affect protein function by most pathogenicity prediction algorithms. L-type Cav1.2 calcium channels are widely expressed in the brain and heart. In the case presented, electrophysiological studies revealed a prominent reduction in the current amplitude without changes in the gating behavior of the Cav1.2 channel, most likely due to a trafficking defect. Due to the demonstrated loss of function, the p.Lys800Thr variant was finally classified as pathogenic (ACMG class 4 variant) and is likely to cause a newly described Cav1.2 channelopathy

Earliest modern human genomes constrain timing of Neanderthal admixture

Modern humans arrived in Europe more than 45,000 years ago, overlapping at least 5,000 years with Neanderthals1-4. Limited genomic data from these early modern humans have shown that at least two genetically distinct groups inhabited Europe, represented by Zlatý kůň, Czechia3 and Bacho Kiro, Bulgaria2. Here we deepen our understanding of early modern humans by analyzing one high-coverage genome and five low-coverage genomes from ~45,000 year-old remains from Ilsenhöhle in Ranis, Germany4, and a further high-coverage genome from Zlatý kůň. We show that distant familial relationships link the Ranis and Zlatý kůň individuals and that they were part of the same small, isolated population that represents the deepest known split from the Out-of-Africa lineage. Ranis genomes harbor Neanderthal segments that originate from a single admixture event shared with all non-Africans that we date to ~45,000-49,000 years ago. This implies that ancestors of all non-Africans sequenced to-date resided in a common population at this time, and further suggests that modern human remains older than 50,000 years from outside Africa represent different non-African populations