A new species of penicillate millipede from genus Mauritixenus (Diplopoda, Polyxenidae) found in Vietnam

Genus Mauritixenus Verhoeff, 1939 comprises a group of penicillate millipedes found only in Mascarene Islands, Madagascar and West Africa. The characteristics of this genus are 13 pairs of legs, 8 ommatidia, labrum with apical granular structure and tarsus 2 with a spine. There are seven described species in this genus. Penicillate milli-pedes were collected from Vietnam, Ninh Thuan Province, which proved to be a previously undescribed species in the genus Mauritixenus. Their distinguishing characteristics include the number of sensilla on gnathochilarium and the anterior lateral process in the claw, as well as the genetic makeup, concluded this is a new species in this genus

Reproduction, egg morphology and development observed in Monographis queenslandicus (Diplopoda: Polyxenidae)

This study provides new insight into penicillate sexual behaviour and eggdevelopment as observed in Monographis queenslandicus Huynh et Veenstra, 2013 (Polyxenidae). The developing eggs were found to have two distinct stages, namely the chorion and pupoid, which both proved to be of 12–14 days duration. Both stages were characterized by distinctive external morphology. Morphological features observed pre ecdysis included the development of a smooth, tough membrane of the chorion. In contrast, the pupoid stage exhibited an embryonic cuticle with tiny spines, which were later being used to rupture the chorion. Additionally, an aperture bordered by protective sensilla located on the anterior of the pupoid is described for the first time.How to cite this article: Huynh C., Veenstra A.A. 2014. Reproduction, egg morphology and development observed in Monographis queenslandicus (Diplopoda: Polyxenidae

Patients’ Needs Concerning Patient Education in Axial Spondyloarthritis:A Qualitative Study

Introduction: Within the EULAR recommendations, patient education (PE) is stated as the basis of the management of axial spondyloarthritis (axSpA). However, educational needs are scarcely qualitatively studied in axSpA. Therefore, we aimed to explore experiences and needs of PE in patients with axSpA. Methods: A phenomenological approach was used, with semi-structured in-depth interviews with patients with axSpA including broad variation in characteristics. Thematic analysis was applied. To enhance credibility, data saturation, research triangulation, peer debriefing, member checking, theoretical notes, and bracketing were performed. Results: Three interrelated themes regarding PE were identified from 20 interviews: illness perception, content, and ‘availability’. Illness perception affects how patients experience and process PE, which consequently influences coping strategies. Prognosis, treatment, and coaching to self-management were identified as the most important content of PE. Regarding ‘availability’, face-to-face PE is preferred for exploring needs, supplemented by self-education, which can be freely applied. Additionally, sufficient time and a comprehensible amount of information were important and participants emphasized the need for axSpA-tailored information for relatives and friends. Participants reported a trusting patient–healthcare provider (HCP) relationship, and multidisciplinary and interdisciplinary attunement between HCPs as prerequisites for effective PE. Conclusions: This first qualitative study exploring patients’ experiences and needs of PE in axSpA revealed that prognosis, treatment, and coaching to self-management are important regarding content, and the combination of face-to-face contact and self-education the preferred modalities. It seems essential that patients’ illness perceptions are taken into account for effective PE. These results add relevant insights for future PE guidelines in axSpA.</p

Intravital correlated microscopy reveals differential macrophage and microglial dynamics during resolution of neuroinflammation

Many brain diseases involve activation of resident and peripheral immune cells to clear damaged and dying neurons. Which immune cells respond in what way to cues related to brain disease, however, remains poorly understood. To elucidate these in vivo immunological events in response to brain cell death we used genetically targeted cell ablation in zebrafish. Using intravital microscopy and large-scale electron microscopy, we defined the kinetics and nature of immune responses immediately following injury. Initially, clearance of dead cells occurs by mononuclear phagocytes, including resident microglia and macrophages of peripheral origin, whereas amoeboid microglia are exclusively involved at a later stage. Granulocytes, on the other hand, do not migrate towards the injury. Remarkably, following clearance, phagocyte numbers decrease, partly by phagocyte cell death and subsequent engulfment of phagocyte corpses by microglia. Here, we identify differential temporal involvement of microglia and peripheral macrophages in clearance of dead cells in the brain, revealing the chronological sequence of events in neuroinflammatory resolution. Remarkably, recruited phagocytes undergo cell death and are engulfed by microglia. Because adult zebrafish treated at the larval stage lack signs of pathology, it is likely that this mode of resolving immune responses in brain contributes to full tissue recovery. Therefore, these findings suggest that control of such immune cell behavior could benefit recovery from neuronal damage.</p

Intravital correlated microscopy reveals differential macrophage and microglial dynamics during resolution of neuroinflammation

Many brain diseases involve activation of resident and peripheral immune cells to clear damaged and dying neurons. Which immune cells respond in what way to cues related to brain disease, however, remains poorly understood. To elucidate these in vivo immunological events in response to brain cell death we used genetically targeted cell ablation in zebrafish. Using intravital microscopy and large-scale electron microscopy, we defined the kinetics and nature of immune responses immediately following injury. Initially, clearance of dead cells occurs by mononuclear phagocytes, including resident microglia and macrophages of peripheral origin, whereas amoeboid microglia are exclusively involved at a later stage. Granulocytes, on the other hand, do not migrate towards the injury. Remarkably, following clearance, phagocyte numbers decrease, partly by phagocyte cell death and subsequent engulfment of phagocyte corpses by microglia. Here, we identify differential temporal involvement of microglia and peripheral macrophages in clearance of dead cells in the brain, revealing the chronological sequence of events in neuroinflammatory resolution. Remarkably, recruited phagocytes undergo cell death and are engulfed by microglia. Because adult zebrafish treated at the larval stage lack signs of pathology, it is likely that this mode of resolving immune responses in brain contributes to full tissue recovery. Therefore, these findings suggest that control of such immune cell behavior could benefit recovery from neuronal damage

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its encoded protein promotes pre-mRNA splicing of many genes essential for development. Whereas individual phenotypic traits have previously been linked to erroneous splicing of SON target genes, the phenotypic spectrum and the pathogenicity of missense variants have not been further evaluated. We present the phenotypic abnormalities in 52 individuals, including 17 individuals who have not been reported before. In total, loss-of-function variants were detected in 49 individuals (de novo in 47, inheritance unknown in 2), and in 3, a missense variant was observed (2 de novo, 1 inheritance unknown). Phenotypic abnormalities, systematically collected and analyzed in Human Phenotype Ontology, were found in all organ systems. Significant inter-individual phenotypic variability was observed, even in individuals with the same recurrent variant (n = 13). SON haploinsufficiency was previously shown to lead to downregulation of downstream genes, contributing to specific phenotypic features. Similar functional analysis for one missense variant, however, suggests a different mechanism than for heterozygous loss-of-function. Although small in numbers and while pathogenicity of these variants is not certain, these data allow for speculation whether de novo missense variants cause ZTTK syndrome via another mechanism, or a separate overlapping syndrome. In conclusion, heterozygous loss-of-function variants in SON define a recognizable syndrome, ZTTK, associated with a broad, severe phenotypic spectrum, characterized by a large inter-individual variability. These observations provide essential information for affected individuals, parents, and healthcare professionals to ensure appropriate clinical management

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. Methods We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. Clinicians filled in a structured questionnaire on genetic and clinical findings to enable correlations between genotype and phenotype. Clinical photographs and specialist reports were gathered. Parents were interviewed to complement the written questionnaires. Results We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics. Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities. Strikingly, individuals with the recurrent p.Tyr719* mutation were more severely affected. Conclusions This overview defines the full clinical spectrum of individuals with ADNP mutations, a specific autism subtype. We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes. In addition, our data show preliminary evidence of a correlation between genotype and phenotype.This work was supported by grants from the European Research Area Networks Network of European Funding for Neuroscience Research through the Research Foundation–Flanders and the Chief Scientist Office–Ministry of Health (to RFK, GV, IG). This research was supported, in part, by grants from the Simons Foundation Autism Research Initiative (Grant No. SFARI 303241 to EEE) and National Institutes of Health (Grant No. R01MH101221 to EEE). This work was also supported by the Italian Ministry of Health and ‘5 per mille’ funding (to CR). For many individuals, sequencing was provided by research initiatives like the Care4Rare Research Consortium in Canada or the Deciphering Developmental Disorders (DDD) study in the UK. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (Grant No. HICF-1009–003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (Grant No. WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South Research Ethics Committee, and GEN/284/12 granted by the Republic of Ireland Research Ethics Committee). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive web-based survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features

Figure 9 from: Huynh C, Veenstra AA (2018) Two new Lophoturus species (Diplopoda, Polyxenida, Lophoproctidae) from Queensland, Australia. In: Stoev P, Edgecombe GD (Eds) Proceedings of the 17th International Congress of Myriapodology, Krabi, Thailand. ZooKeys 741: 133-154. https://doi.org/10.3897/zookeys.741.21814

Lophoturus queenslandicus Verhoeff, 1924 was the first penicillate millipede in the family Lophoproctidae collected from Cairns, a tropical region in Queensland, Australia, to be formally described. Specimens collected from this region in a recent study had the morphological characters known to define this genus. However, their body form and length, as well as dorsal colouration proved to be different, suggesting the possibility of more than one Lophoturus species. This assertion was supported by the results of a phylogenetic analysis of DNA extracted and sequenced using 18S and COI regions from L. queenslandicus and two undescribed species from this genus. Specimens preserved in ethanol can prove difficult to confidently identify to species level because their colour gradually fades. Examination of live specimens with their body colour visible, together with morphological characters and DNA analysis is the most reliable way of correctly distinguishing between these three species. Two new species, L. boondallus sp. n. and L. molloyensis sp. n. collected in Queensland, Australia are described