Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population

Article focus▪ This article is a protocol of a study that involves&nbsp;offering fragile X syndrome carrier screening to&nbsp;pregnant and non-pregnant women in the&nbsp;general population. We are undertaking a programme&nbsp;evaluation approach using mixed&nbsp;methods to collect data about informed decisionmaking&nbsp;and predictors of test uptake, with a&nbsp;focus on psychosocial measures. We are also&nbsp;undertaking an economic appraisal.Key messages▪ Carrier screening for fragile X syndrome is the&nbsp;subject of debate because of concerns around&nbsp;education and counselling for this complex conditionand the potential for psychosocial harms. ▪ This study will inform policy and practice in the&nbsp;area of population carrier screening by examining&nbsp;psychosocial aspects of screening, including&nbsp;informed decision-making; models of screening,&nbsp;through antenatal care or other access points&nbsp;and health economics of carrier screening for&nbsp;fragile X syndrome.Strengths and limitations of this study▪ This study seeks to recruit 1000 women in total.&nbsp;This large sample size will give us sufficient&nbsp;power to address the aims of the study.▪ Collecting quantitative and qualitative data will&nbsp;provide a more in-depth picture of screening for&nbsp;fragile X syndrome.▪ A limitation of the study is that the data on&nbsp;models of screening may not be applicable to&nbsp;other countries that have different healthcare&nbsp;systems.</div

Six-Month Mortality among HIV-Infected Adults Presenting for Antiretroviral Therapy with Unexplained Weight Loss, Chronic Fever or Chronic Diarrhea in Malawi.

In sub-Saharan Africa, early mortality is high following initiation of antiretroviral therapy (ART). We investigated 6-month outcomes and factors associated with mortality in HIV-infected adults being assessed for ART initiation and presenting with weight loss, chronic fever or diarrhea, and with negative TB sputum microscopy

The bright unidentified gamma-ray source 1FGL J1227.9-4852: Can it be associated with an LMXB?

We present an analysis of high energy (HE; 0.1-300 GeV) gamma-ray observations of 1FGL J1227.9-4852 with the Fermi Gamma-ray Space Telescope, follow-up radio observations with the Australia Telescope Compact Array, Giant Metrewave Radio Telescope and Parkes radio telescopes of the same field and follow-up optical observations with the ESO VLT. We also examine archival XMM-Newton and INTEGRAL X-ray observations of the region around this source. The gamma-ray spectrum of 1FGL J1227.9-4852 is best fit with an exponentially cutoff power-law, reminiscent of the population of pulsars observed by Fermi. A previously unknown, compact radio source within the 99.7% error circle of 1FGL J1227.9-4852 is discovered and has a morphology consistent either with an AGN core/jet structure or with two roughly symmetric lobes of a distant radio galaxy. A single bright X-ray source XSS J12270-4859, a low-mass X-ray binary, also lies within the 1FGL J1227.9-4852 error circle and we report the first detection of radio emission from this source. The potential association of 1FGL J1227.9-4852 with each of these counterparts is discussed. Based upon the available data we find the association of the gamma-ray source to the compact double radio source unlikely and suggest that XSS J12270-4859 is a more likely counterpart to the new HE source. We propose that XSS J12270-4859 may be a millisecond binary pulsar and draw comparisons with PSR J1023+0038.Comment: Accepted for publication in MNRAS; 9 pages, 8 figures, 2 table

Prevalence and predictive value of ICD-11 post-traumatic stress disorder and Complex PTSD diagnoses in children and adolescents exposed to a single-event trauma.

BACKGROUND: The 11th edition of the International Classification of Diseases (ICD-11) made a number of significant changes to the diagnostic criteria for post-traumatic stress disorder (PTSD). We sought to determine the prevalence and 3-month predictive values of the new ICD-11 PTSD criteria relative to ICD-10 PTSD, in children and adolescents following a single traumatic event. ICD-11 also introduced a diagnosis of Complex PTSD (CPTSD), proposed to typically result from prolonged, chronic exposure to traumatic experiences, although the CPTSD diagnostic criteria do not require a repeated experience of trauma. We therefore explored whether children and adolescents demonstrate ICD-11 CPTSD features following exposure to a single-incident trauma. METHOD: Data were analysed from a prospective cohort study of youth aged 8-17 years who had attended an emergency department following a single trauma. Assessments of PTSD, CPTSD, depressive and anxiety symptoms were performed at two to four weeks (n = 226) and nine weeks (n = 208) post-trauma, allowing us to calculate and compare the prevalence and predictive value of ICD-10 and ICD-11 PTSD criteria, along with CPTSD. Predictive abilities of different diagnostic thresholds were undertaken using positive/negative predictive values, sensitivity/specificity statistics and logistic regressions. RESULTS: At Week 9, 15 participants (7%) were identified as experiencing ICD-11 PTSD, compared to 23 (11%) experiencing ICD-10 PTSD. There was no significant difference in comorbidity rates between ICD-10 and ICD-11 PTSD diagnoses. Ninety per cent of participants with ICD-11 PTSD also met criteria for at least one CPTSD feature. Five participants met full CPTSD criteria. CONCLUSIONS: Reduced prevalence of PTSD associated with the use of ICD-11 criteria is likely to reduce identification of PTSD relative to using ICD-10 criteria but not relative to DSM-4 and DSM-5 criteria. Diagnosis of CPTSD is likely to be infrequent following single-incident trauma

Intervention for mixed receptive-expressive language impairment : a review

Children with receptive-expressive language impairment (RELI), also referred to as 'receptive language disorder' or 'mixed receptive-expressive disorder',2 form a subset of those with speech, language, and communication needs who commonly have problems understanding both spoken and written language; they have particular difficulties in comprehending vocabulary and grammar and inferring meaning. They will have problems with expressive language and some will also have difficulties in pragmatics, i.e. the use of language in social contexts

The ISOPHOT-MAMBO survey of 3CR radio sources: Further evidence for the unified schemes

We present the complete set of ISOPHOT observations of 3CR radio galaxies and quasars, which are contained in the ISO Data Archive, providing 75 mid- and far-infrared spectral energy distributions (SEDs) between 5 and 200 micron. For 28 sources they are supplemented with MAMBO 1.2 mm observations and for 15 sources with new submillimetre data from the SCUBA archive. We check the orientation-dependent unified scheme, in which the powerful FR2 narrow line galaxies are quasars viewed at high inclination, so that their nuclei are hidden behind a dust torus intercepting the optical-ultraviolet AGN radiation and reemitting it in the infrared. We find that (1) both the quasars and the galaxies show a high mid- to far-infrared luminosity ratio typical for powerful AGNs and (2) -- when matched in 178 MHz luminosity -- both show the same ratio of isotropic far-infrared to isotropic 178 MHz lobe power. Therefore, from our large sample investigated here we find strong evidence for the orientation-dependent unification of the powerful FR2 galaxies with the quasars.Comment: 16 pages, 7 figures, 3 tables, accepted by Astronomy & Astrophysic

Immune responses in pigs vaccinated with adjuvanted and non-adjuvanted A(H1N1)pdm/09 influenza vaccines used in human immunization programmes.

Following the emergence and global spread of a novel H1N1 influenza virus in 2009, two A(H1N1)pdm/09 influenza vaccines produced from the A/California/07/09 H1N1 strain were selected and used for the national immunisation programme in the United Kingdom: an adjuvanted split virion vaccine and a non-adjuvanted whole virion vaccine. In this study, we assessed the immune responses generated in inbred large white pigs (Babraham line) following vaccination with these vaccines and after challenge with A(H1N1)pdm/09 virus three months post-vaccination. Both vaccines elicited strong antibody responses, which included high levels of influenza-specific IgG1 and haemagglutination inhibition titres to H1 virus. Immunisation with the adjuvanted split vaccine induced significantly higher interferon gamma production, increased frequency of interferon gamma-producing cells and proliferation of CD4(-)CD8(+) (cytotoxic) and CD4(+)CD8(+) (helper) T cells, after in vitro re-stimulation. Despite significant differences in the magnitude and breadth of immune responses in the two vaccinated and mock treated groups, similar quantities of viral RNA were detected from the nasal cavity in all pigs after live virus challenge. The present study provides support for the use of the pig as a valid experimental model for influenza infections in humans, including the assessment of protective efficacy of therapeutic interventions

Properties of Ly-alpha emitters around the radio galaxy MRC 0316-257

Observations of the radio galaxy MRC 0316-257 at z=3.13 and the surrounding field are presented. Using narrow- and broad-band imaging obtained with the VLT, 77 candidate Ly-alpha emitters with a rest-frame equivalent width of > 15 A were selected in a ~7'x7' field around the radio galaxy. Spectroscopy of 40 candidate emitters resulted in the discovery of 33 emission line galaxies of which 31 are Ly-alpha emitters with redshifts similar to that of the radio galaxy, while the remaining two galaxies turned out to be [OII] emitters. The Ly-alpha profiles have widths (FWHM) in the range of 120-800 km/s, with a median of 260 km/s. Where the signal-to-noise was large enough, the Ly-alpha profiles were found to be asymmetric, with apparent absorption troughs blueward of the profile peaks, indicative of absorption along the line of sight of an HI mass of at least 2x10^2 - 5x10^4 M_sun. The properties of the Ly-alpha galaxies (faint, blue and small) are consistent with young star forming galaxies which are still nearly dust free. The volume density of Ly-alpha emitting galaxies in the field around MRC 0316-257 is a factor of 3.3+0.5-0.4 larger compared with the density of field Ly-alpha emitters at that redshift. The velocity distribution of the spectroscopically confirmed emitters has a FWHM of 1510 km/s, which is substantially smaller than the width of the narrow-band filter (FWHM ~ 3500 km/s). The peak of the velocity distribution is located within 200 km/s of the redshift of the radio galaxy. We conclude that the confirmed Ly-alpha emitters are members of a protocluster of galaxies at z~3.13. The size of the protocluster is larger than 3.3x3.3 Mpc^2. The mass of this structure is estimated to be > 3-6x10^14 M_sun and could be the progenitor of a cluster of galaxies similar to e.g. the Virgo cluster. (Abridged)Comment: 23 Pages, including 20 PostScript figures. Publiced in Astronomy & Astrophysics. v2: typo fixed and Journal reference adde