High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype–phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients. Totally, 16 different mutations were identified; twelve of which had already been reported, and four are novel (p.N93Y, p.L251P, p.D281V and c.829−2A>T). The probands were classified into three major groups according to the clinical symptoms caused by these mutations. A psychomotor delay was the most common diagnostic symptom (n = 12, 46.2% neurological presentation), followed by thromboembolic events (n = 6, 23.1% vascular presentation) and lens ectopia, myopia or marfanoid features (n = 5, 19.2% connective tissue presentation). Pyridoxine responsiveness was 7.7%; however, with partial responsive probands, the ratio was 53.9%.     

Corrigendum

正Li W,Wang B,Wang M,Chen M,Yin JM,Kaleri GM,Zhang RJ,Zuo TN,You X and Yang Q(2014)Cloning and characterization of a potato StAN11gene involved in anthocyanin biosynthesis regulation.J Integr Plant Biol 56(4):364–372.DOI:10.1111/jipb.12136The authors would like to draw the reader’s attention to an error in the following article:     

Genome sequence of the exopolysaccharide-producing Salipiger mucosus type strain (DSM 16094T), a moderately halophilic member of the Roseobacter clade

Salipiger mucosus Martínez-Cànovas et al. 2004 is the type species of the genus Salipiger, a moderately halophilic and exopolysaccharide-producing representative of the Roseobacter lineage within the alphaproteobacterial family Rhodobacteraceae. Members of this family were shown to be the most abundant bacteria especially in coastal and polar waters, but were also found in microbial mats and sediments. Here we describe the features of the S. mucosus strain DSM 16094^T together with its genome sequence and annotation. The 5,689,389-bp genome sequence consists of one chromosome and several extrachromosomal elements. It contains 5,650 protein-coding genes and 95 RNA genes. The genome of S. mucosus DSM 16094^T was sequenced as part of the activities of the Transregional Collaborative Research Center 51 (TRR51) funded by the German Research Foundation (DFG).     

Distribution of birds on eastern and western slopes of the sierra aconquija in the northwestern argentine Andes

The populations of birds (diurnal birds of prey excluded) were studied on both east and west oriented slopes in the Sierra de Aconquija, Tucumán province, northwestern Argentina. The transect method of bird observation was combined with strip surveys. The study period was mid November till early March, during which time most of the Andean bird species are breeding. The eastern slope has frequent fog, whereas the western one is sunny with scarcely rain. Species occurrence and abundance were recorded which in part depend on the altitude. Probable further reasons for these patterns of local distribution are discussed.     

autoinfer1.0: a computer program to infer biogeographical events automatically

autoinfer is a computer program for biogeographical inference based on nested clade analysis. To reduce the obscurity caused by manual inference, we defined geographically concordant clades and intermediate geographical areas between two clades. The program will perform most of the inferences automatically with a minimum of input from the user. We believe that autoinfer will save much time for the user compared with using the inference key by hand and, furthermore, will reduce the errors of inference resulting from different criteria in deduction.     

Estudio Fenológico de Cactíceas en el Enclave Seco de la Tatacoa,Colombia1

A one‐year phenological study of three columnar cacti, Stenocereus griseus (Haw.) Britton & Rose, Pilosocereus sp., Cereus hexagonus (L.) Mill., and a decumbent cactus Monvillea cf. smithiana (Britton & Rose) Backeberg., was carried out in the Andean arid region of La Tatacoa, Colombia. Pollinators and/or dispersers of the cacti species also were studied monthly, and fecal samples were collected for the identification of pollen and seeds. The flowering of all species was prolonged and showed bimodal, multimodal, or irregular patterns. Fruiting in all species also was prolonged and followed flowering with a lag of less than two months. Although there were no simple correlations between rainfall and flowering or fruiting, flower production during the dry season was higher for 5. griseus, while Pilosocereus sp. and C. hexagonus showed higher flower production during the wet season. Fruit production was also seasonal, with higher production during the wet season for 5. griseus and C. hexagonus. The patterns of flowering and fruiting in M. cf. smithiana showed no relationships with dry and wet seasons. The bats Glossophaga longirostris, Carollia perspicillata, Sturnira lilium, the birds Melanerpes rubricapillus (Picidae) and Mimus gilvus (Mimidae), and moths of the family Sphingidae, were identified as pollinators and/or fruit consumers of these cacti species.     

Global database of plants with root‐symbiotic nitrogen fixation: NodDB

Plants associated with symbiotic N‐fixing bacteria play important roles in early successional, riparian and semi‐dry ecosystems. These so‐called N‐fixing plants are widely used for reclamation of disturbed vegetation and improvement of soil fertility in agroforestry. Yet, available information about plants that are capable of establishing nodulation is fragmented and somewhat outdated. This article introduces the NodDB database of N‐fixing plants based on morphological and phylogenetic evidence (available at https://doi.org/10.15156/bio/587469 ) and discusses plant groups with conflicting reports and interpretation, such as certain legume clades and the Zygophyllaceae family. During angiosperm evolution, N‐fixing plants became common in the fabid rather than in the ‘nitrogen‐fixing’ clade. The global GBIF plant species distribution data indicated that N‐fixing plants tend to be relatively more diverse in savanna and semi‐desert biomes. The compiled and re‐interpreted information about N‐fixing plants enables accurate analyses of biogeography and community ecology of biological N fixation.     

Response of epilithic diatom communities to environmental gradients along an Ecuadorian Andean River

Epilithic diatom communities are particularly suitable for the evaluation of freshwater quality. In Ecuador, however, no water quality index includes this biotic parameter. This work is the first attempt in the country to determine the composition of epilithic diatom communities associated with different degrees of eutrophication. This was accomplished by measuring physical, chemical and microbiological variables at five sampling sites along the Pita River, Ecuador, from August to December 2016. The results indicate a clear gradient of eutrophication from sampling sites P1 (good water) in the upper reaches to P5 (bad water) located in the lower reaches. Concerning diatom analyses, the results indicated a high diversity for tropical areas in terms of species richness, varying from S = 34 in headwaters to S = 42 downstream. Moreover, the results obtained suggest a lack of concordance with the trophic values given to some of the epilithic diatoms in the literature. There were also species that seem to be sensitive to downstream nutrient increases that were not considered as bioindicators in previous studies. We concluded that the trophic values of diatom species available in the scientific literature are not directly applicable to their sites in the Pita River. Hence, it is necessary to establish a trophic diatom index for the Andean region of Ecuador.