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Surveillance for detection of the brown marmorated stink bug, Halyomorpha halys, is reliant on sticky panels with aggregation pheromone, which are low cost, but very inefficient (est. 3%). Trapping for adults was conducted in Italy with novel live (or lethal) traps consisting of aggregation pheromone-baited cylinders with a wind vane, with the upwind end covered by mesh and the downwind end sealed by a removable entry-only mesh cone, admitting the attracted bugs. The novel traps caught up to 15-times more adult H. halys than identically-baited sticky panels in two weeks of daily checking (n = 6 replicates) (the new live traps were, in Run 1, 5-, 9-, 15-, 13-, 4-, 12-, 2-fold; and in Run 2, 7-, 1-, 3-, 7-, 6-, 6-, and 5-fold better than sticky traps, daily). The maximum catch of the new traps was 96 live adults in one trap in 24 h and the average improvement was ~7-fold compared with sticky panels. The rotating live traps, which exploit a mesh funnel facing the plume downwind that proved useful for collecting adults, could also be used to kill bugs. We expect that commercially-available traps could replace the crude prototypes we constructed quickly from local materials, at low cost, as long as the principles of a suitable plume structure were observed, as we discuss. The traps could be useful for the sterile insect technique, supporting rearing colonies, or to kill bugs.

The sterility of eggs and nymphs from gamma-irradiated male Halyomorpha halys was investigated to determine the potential for the sterile insect technique (SIT). Males irradiated at 0, 16, 24 and 32 Gy were placed with untreated virgin females, and egg sterility was determined, showing 54.3% at 16 Gy. The percentage of sterility from irradiation was 26 percent lower than previous results from the USA and the variance was very high. Competitive overflooding ratio trials between irradiated virgin males and fertile virgin males at a 5:1 ratio resulted in the expected egg sterility, indicating competitive performance by irradiated males. By July and August, older, irradiated overwintered males were significantly less competitive than similar, non-irradiated males. There is a need to revisit the irradiation delivery method to achieve proper precision around the paternal dose required for an expected >80% egg sterility and subsequent ~99% endpoint sterility estimated at adult emergence in the F1 phase. These results suggest that the mating competitiveness and competency of males after irradiation at 16 Gy is not limiting to the sterile insect technique for suppression. A wild harvest of overwintering males using the aggregation pheromone, followed by irradiation and male release, might replace rearing. Mass-collected, sterilized bugs could be transported from an area of high H. halys density and shipped for release to enable suppression or eradication elsewhere. This concept is under development but further work is needed now to understand the difference in results between the US and Italian irradiators and increase the reliability of dosimetry.

Improvements to current brown marmorated stink bug (BMSB), Halyomorpha halys, surveillance and killing systems are needed to improve detection sensitivity and to reduce pesticide use. Detection of BMSB in New Zealand with traps is reliant on sticky panels with aggregation pheromone, which are low cost but inefficient compared with beating foliage. Trapping for BMSB adults and nymphs was conducted daily with lethal traps consisting of an aggregation pheromone-baited-coat hanger covered with dark-colored long-lasting insecticide-treated mesh, we termed “The Nazgȗl”, based on its sinister appearance. A deep tray lined with white plastic was attached centrally at the base for collecting the dead BMSB. The lethal traps killed and caught up to 3.5-fold more nymphs and adult BMSB than identically-baited sticky panels in the 3 weeks of deployment, and provided a snapshot of phenology by instar. We expect that lure-and-kill stations could contribute to the suppression of a delimited population and could be included as part of a semiochemical-based eradication program. Attracting and killing females and nymphs, thus removing future offspring, could contribute to population suppression during an eradication.

In the Ashkenazi Jewish (AJ) population of Israel, 11% of breast cancer and 40% of ovarian cancer are due to three inherited founder mutations in the cancer predisposition genes BRCA1 and BRCA2 . For carriers of these mutations, risk-reducing salpingo-oophorectomy significantly reduces morbidity and mortality. Population screening for these mutations among AJ women may be justifiable if accurate estimates of cancer risk for mutation carriers can be obtained. We therefore undertook to determine risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers ascertained irrespective of personal or family history of cancer. Families harboring mutations in BRCA1 or BRCA2 were ascertained by identifying mutation carriers among healthy AJ males recruited from health screening centers and outpatient clinics. Female relatives of the carriers were then enrolled and genotyped. Among the female relatives with BRCA1 or BRCA2 mutations, cumulative risk of developing either breast or ovarian cancer by age 60 and 80, respectively, were 0.60 (± 0.07) and 0.83 (± 0.07) for BRCA1 carriers and 0.33 (± 0.09) and 0.76 (± 0.13) for BRCA2 carriers. Risks were higher in recent vs. earlier birth cohorts ( P = 0.006). High cancer risks in BRCA1 or BRCA2 mutation carriers identified through healthy males provide an evidence base for initiating a general screening program in the AJ population. General screening would identify many carriers who are not evaluated by genetic testing based on family history criteria. Such a program could serve as a model to investigate implementation and outcomes of population screening for genetic predisposition to cancer in other populations. Significance Inherited mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose to very high risks of breast and ovarian cancer. For carriers of these mutations, risk-reducing surgery significantly reduces morbidity and mortality. General population screening for BRCA1 and BRCA2 mutations in young adult women could be feasible if accurate estimates of cancer risk for mutation carriers could be obtained. We determined that risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers ascertained from the general population are as high as for mutation carriers ascertained through personal or family history of cancer. General screening of BRCA1 and BRCA2 would identify many carriers who are currently not evaluated and could serve as a model for population screening for genetic predisposition to cancer.

Beck et al. define an adult-onset inflammatory disorder that unites multiple clinical conditions with previously different diagnoses or with no diagnosis at all; their findings are now reported in the Journal . 1 The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is defined by genotype, not by clinical phenotype. We agree with the authors that the names of disorders should be based on the responsible gene or pathway. Gene-based nosology best complements the discovery and deployment of genotype-targeted treatments for both inherited and noninherited forms of disease. 2 Beck et al. found that myeloid cells in each patient with the VEXAS syndrome . . .

VIP2 receptor link to schizophrenia Based on genome-wide analysis of copy number variants in two large schizophrenia cohorts, Vacic et al . report a significant association between duplications within a region of chromosome 7 and schizophrenia. Using microduplication analysis, the region affected was narrowed down to 7q36.3, just upstream of a gene encoding vasoactive intestinal peptide receptor ( VIPR2 ). Increased expression of VIPR2 in patients with schizophrenia implicates VIP signalling as a molecular mechanism underlying schizophrenia. This work points to the VIPR2 receptor as a potential target for antipsychotic drugs. Substantial risk for schizophrenia is conferred by large copy number variants at a number of genomic loci. Here, a significant association between duplications on chromosome 7 and schizophrenia is reported. Importantly, microduplication analysis narrowed down the region to a region just upstream of a gene encoding vasoactive intestinal peptide receptor (VIPR2). Increased expression of VIPR2 in patients with schizophrenia implicates VIP signalling as a molecular mechanism underlying schizophrenia. Rare copy number variants (CNVs) have a prominent role in the aetiology of schizophrenia and other neuropsychiatric disorders 1 . Substantial risk for schizophrenia is conferred by large (>500-kilobase) CNVs at several loci, including microdeletions at 1q21.1 (ref. 2 ), 3q29 (ref. 3 ), 15q13.3 (ref. 2 ) and 22q11.2 (ref. 4 ) and microduplication at 16p11.2 (ref. 5 ). However, these CNVs collectively account for a small fraction (2–4%) of cases, and the relevant genes and neurobiological mechanisms are not well understood. Here we performed a large two-stage genome-wide scan of rare CNVs and report the significant association of copy number gains at chromosome 7q36.3 with schizophrenia. Microduplications with variable breakpoints occurred within a 362-kilobase region and were detected in 29 of 8,290 (0.35%) patients versus 2 of 7,431 (0.03%) controls in the combined sample. All duplications overlapped or were located within 89 kilobases upstream of the vasoactive intestinal peptide receptor gene VIPR2 . VIPR2 transcription and cyclic-AMP signalling were significantly increased in cultured lymphocytes from patients with microduplications of 7q36.3. These findings implicate altered vasoactive intestinal peptide signalling in the pathogenesis of schizophrenia and indicate the VPAC2 receptor as a potential target for the development of new antipsychotic drugs.

Adenosine deaminase 2 (ADA2) is a protein with at least two functions. It is a growth factor affecting leukocytes and endothelial cells and an enzyme that influences purine metabolism. This study shows that mutant ADA2 causes polyarteritis nodosa. Polyarteritis nodosa, first described in 1866, 1 is a systemic necrotizing vasculitis that affects medium and small muscular arteries. 2 , 3 The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Polyarteritis nodosa is usually diagnosed in middle age or later but can appear in childhood. 2 , 4 , 5 The diagnosis remains challenging despite classification criteria for adults 6 and children, 7 because polyarteritis nodosa frequently presents with nonspecific constitutional symptoms, and organ involvement and disease severity are highly varied. Polyarteritis nodosa is most often primary, but in adults it may be associated . . .

The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response to DNA damage, which resulted in chromosomal breakage and the failure of RAD51 to be recruited to double-stranded DNA breaks. The sisters also had microcephaly, and one sister was in long-term remission from leukemia, which had been diagnosed when she was 5 years old. Drosophila mutants that were null for an orthologue of BRCA2 were sterile, and gonadal dysgenesis was present in both sexes. These results revealed a new role for BRCA2 and highlight the importance to ovarian development of genes that are critical for recombination during meiosis. (Funded by the Israel Science Foundation and others.).

ObjectiveTo determine the yield of genetic diagnoses using chromosomal microarray (CMA) and trio whole exome sequencing (WES), separately and combined, among patients with cryptogenic cerebral palsy (CP).MethodsTrio WES of patients with prior CMA analysis for cryptogenic CP, defined as disabling, non-progressive motor symptoms beginning before the age of 3 years without known cause.ResultsGiven both CMA analysis and trio WES, clinically significant genetic findings were identified for 58% of patients (26 of 45). Diagnoses were eight large CNVs detected by CMA and 18 point mutations detected by trio WES. None had more than one severe mutation. Approximately half of events (14 of 26) were de novo. Yield was significantly higher in patients with CP with comorbidities (69%, 22 of 32) than in those with pure motor CP (31%, 4 of 13; p=0.02). Among patients with genetic diagnoses, CNVs were more frequent than point mutations among patients with congenital anomalies (OR 7.8, 95% CI 1.2 to 52.4) or major dysmorphic features (OR 10.5, 95% CI 1.4 to 73.7). Clinically significant mutations were identified in 18 different genes: 14 with known involvement in CP-related disorders and 4 responsible for other neurodevelopmental conditions. Three possible new candidate genes for CP were ARGEF10, RTF1 and TAOK3.ConclusionsCryptogenic CP is genetically highly heterogeneous. Genomic analysis has a high yield and is warranted in all these patients. Trio WES has higher yield than CMA, except in patients with congenital anomalies or major dysmorphic features, but these methods are complementary. Patients with negative results with one approach should also be tested by the other.

Jonathan Sebat and colleagues report the association of microduplication on chromosome 16p11.2 with schizophrenia, while the reciprocal microdeletion was associated with autism and developmental disorders. Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders 1 , 2 , 3 . We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 (0.63%) cases and 1/3,971 (0.03%) controls ( P = 1.2 × 10 −5 , OR = 25.8) from the initial cohort, and in 9/2,645 (0.34%) cases and 1/2,420 (0.04%) controls ( P = 0.022, OR = 8.3) of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk of schizophrenia (95% CI (3.3, 62)) in the combined sample. A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia ( P = 4.8 × 10 −7 ), bipolar disorder ( P = 0.017) and autism ( P = 1.9 × 10 −7 ). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders ( P = 2.3 × 10 −13 ). Head circumference was larger in patients with the microdeletion than in patients with the microduplication ( P = 0.0007).