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Dark matter elastic scattering off nuclei can result in the excitation and ionization of the recoiling atom through the so-called Migdal effect. The energy deposition from the ionization electron adds to the energy deposited by the recoiling nuclear system and allows for the detection of interactions of sub-GeV/c^{2} mass dark matter. We present new constraints for sub-GeV/c^{2} dark matter using the dual-phase liquid argon time projection chamber of the DarkSide-50 experiment with an exposure of (12 306±184) kg d. The analysis is based on the ionization signal alone and significantly enhances the sensitivity of DarkSide-50, enabling sensitivity to dark matter with masses down to 40 MeV/c^{2}. Furthermore, it sets the most stringent upper limit on the spin independent dark matter nucleon cross section for masses below 3.6 GeV/c^{2}.
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We present a search for dark matter particles with sub-GeV/c^{2} masses whose interactions have final state electrons using the DarkSide-50 experiment's (12 306±184) kg d low-radioactivity liquid argon exposure. By analyzing the ionization signals, we exclude new parameter space for the dark matter-electron cross section σ[over ¯]_{e}, the axioelectric coupling constant g_{Ae}, and the dark photon kinetic mixing parameter κ. We also set the first dark matter direct-detection constraints on the mixing angle |U_{e4}|^{2} for keV/c^{2} sterile neutrinos.
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We present new constraints on sub-GeV dark-matter particles scattering off electrons based on 6780.0 kg d of data collected with the DarkSide-50 dual-phase argon time projection chamber. This analysis uses electroluminescence signals due to ionized electrons extracted from the liquid argon target. The detector has a very high trigger probability for these signals, allowing for an analysis threshold of three extracted electrons, or approximately 0.05 keVee. We calculate the expected recoil spectra for dark matter-electron scattering in argon and, under the assumption of momentum-independent scattering, improve upon existing limits from XENON10 for dark-matter particles with masses between 30 and 100 MeV/c^{2}.
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We present the results of a search for dark matter weakly interacting massive particles (WIMPs) in the mass range below 20 GeV/c^{2} using a target of low-radioactivity argon with a 6786.0 kg d exposure. The data were obtained using the DarkSide-50 apparatus at Laboratori Nazionali del Gran Sasso. The analysis is based on the ionization signal, for which the DarkSide-50 time projection chamber is fully efficient at 0.1 keVee. The observed rate in the detector at 0.5 keVee is about 1.5 event/keVee/kg/d and is almost entirely accounted for by known background sources. We obtain a 90% C.L. exclusion limit above 1.8 GeV/c^{2} for the spin-independent cross section of dark matter WIMPs on nucleons, extending the exclusion region for dark matter below previous limits in the range 1.8-6 GeV/c^{2}.
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BACKGROUND: Cardiac surgery patients are among those most at risk for developing pressure ulcers (PUs), with a reported incidence as high as 29.5%. Although numerous studies documenting PU risk factors and prevention strategies exist, the availability of literature examining risk factors specific to the cardiac surgery population is limited. AIM: A systematic review was completed that aimed to identify the risk factors associated with PU development in critically ill, adult, cardiac surgery patients. METHODS: The MEDLINE, CINAHL, and Cochrane databases were searched. Studies that focused on PU risk factors in critical care, surgical intensive care, or cardiac surgery populations and used PU occurrences as an outcome variable were included in the review. FINDINGS: Twelve high-quality studies were retrieved and included in the review; they revealed 30 potential PU risk factors. Current evidence is limited in 2 important ways. First, the impact of intraoperative factors, such as cardiopulmonary bypass time or body temperature, appears to be underexplored. Second, a substantive discussion of the risk factors associated specifically with deep tissue injuries, a unique PU category, is absent. CONCLUSION: The relatively high PU incidence among cardiac surgery patients suggests that typical PU prevention methods are insufficient for this population. Targeted prevention measures must be developed and implemented. Completion of this task required identification of risk factors unique to this population. Specific risk factors likely to increase risk among cardiac surgery patients include prolonged exposure to pressure during long surgical procedures, vascular disease, and/or vasopressor use postoperatively. Additional research concerning risk factors specific to this population is urgently needed.
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Procedimientos Quirúrgicos Cardíacos/efectos adversos , Enfermedad Crítica/epidemiología , Úlcera por Presión/epidemiología , Educación Continua en Enfermería , Humanos , Úlcera por Presión/economía , Factores de RiesgoRESUMEN
A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood. Although initial genetic findings helped make a correct fragile X syndrome (FXS) determination, the report was insufficient. Ten years later, we repeated and conducted additional genetic and clinical studies to determine whether more information could assist with treatment and counseling. The genetic findings were very consistent with his high functioning and would have enabled us to be more confident about a good developmental outcome had they been available previously. As FXS enters the mainstream of well-understood genetic disorders and technological advancements improve genetic tests, it should be clearer to clinical providers what a full FXS assessment could include to provide high quality information for care. For individuals with FXS who are high functioning, their families and clinical professionals would benefit from knowing more genetic findings, including, most importantly, methylation status, but also the FMR1 protein (FMRP) level and mRNA level. While we now know that obtaining only the CGG repeat number is not always adequate to inform accurate clinical care, future studies are likely to show the benefit of studying other biomarkers, such as mRNA levels.
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This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural history study of FXS, were analyzed using descriptive statistics and multivariate linear and logistic regression models to examine SS and signs of HA, their impact on behavioral regulation and limitations on the subject/family. The sample (N = 933) consisted of 720 males and 213 females. More males were affected with SS (87% vs. 68%) and signs of HA (92% vs. 79%). Subjects who were endorsed as having a strong sensory response had more comorbidities, including behavioral problems. The predominant SS was difficulty with eye gaze that increased with age in both genders. As individuals age, there was less use of non-medication therapies, such as occupational therapy (OT)/physical therapy (PT), but there was more use of psychopharmacological medications and investigational drugs for behaviors. Multiple regression models suggested that endorsing SS and signs of HA was associated with statistically significantly increased ABC-C-I subscale scores and limited participation in everyday activities. This study improves our understanding of SS and signs of HA as well as their impact in FXS. It supports the need for more research regarding these clinical symptoms, especially to understand how they contribute to well-known behavioral concerns.
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We report a measurement of the proton-air cross section for particle production at the center-of-mass energy per nucleon of 57 TeV. This is derived from the distribution of the depths of shower maxima observed with the Pierre Auger Observatory: systematic uncertainties are studied in detail. Analyzing the tail of the distribution of the shower maxima, a proton-air cross section of [505±22(stat)(-36)(+28)(syst)] mb is found.
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We describe the measurement of the depth of maximum, X{max}, of the longitudinal development of air showers induced by cosmic rays. Almost 4000 events above 10;{18} eV observed by the fluorescence detector of the Pierre Auger Observatory in coincidence with at least one surface detector station are selected for the analysis. The average shower maximum was found to evolve with energy at a rate of (106{-21}{+35}) g/cm{2}/decade below 10{18.24+/-0.05} eV, and (24+/-3) g/cm{2}/decade above this energy. The measured shower-to-shower fluctuations decrease from about 55 to 26 g/cm{2}. The interpretation of these results in terms of the cosmic ray mass composition is briefly discussed.
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To assess the effects of postnatal parental smoking on subsequent parent and teacher ratings of DSM-IV attention deficit hyperactivity disorder (ADHD) symptoms and oppositional behaviors in children diagnosed with ADHD and their siblings. Children between 5 and 12 years of age with ADHD and their siblings were included. DSM-IV ADHD symptom subscales (Inattentive and hyperactive-impulsive), and oppositionality subscale scores from Conners' Rating Scales were predicted on the basis of parental smoking status in the first 7 years after birth using Generalized Estimating Equations controlling for a range of relevant covariates. Postnatal parental smoking was associated with both parent and teacher ratings of ADHD symptoms and oppositional behavior. After controlling for a number of covariates, several of these relationships were still significant. The risk of maternal smoking for the development of ADHD symptoms does not end during pregnancy. Research on the mechanisms underlying the observed associations is needed.
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Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Déficit de la Atención y Trastornos de Conducta Disruptiva/epidemiología , Docentes , Madres/estadística & datos numéricos , Padres , Periodo Posparto , Fumar/epidemiología , Adulto , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Déficit de la Atención y Trastornos de Conducta Disruptiva/diagnóstico , Niño , Preescolar , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Humanos , Masculino , Variaciones Dependientes del ObservadorRESUMEN
OBJECTIVE: To characterize bladder and bowel toileting skill acquisition in children with fragile X syndrome and to identify associated demographic, behavioral, and clinical factors. METHODS: Using baseline data from the Fragile X Online Registry With Accessible Research Database (FORWARD), bivariate analyses and logistic regression models were used to identify differences between subjects who were and were not bowel and/or bladder trained by the age of 10 years. Cox proportional hazard models were used to assess the rate of completion of toilet training (TT) as a function of sex and autism spectrum disorder (ASD) diagnosis. RESULTS: In bivariate analyses, male sex, lower language level, inability to write one's name, more impaired intellectual level, ASD, and more severe behavioral deficits all predicted lack of bladder training (n = 313, p < 0.001) and bowel training (n = 300, p = 0.0004-0.0001) by the age of 10 years. In logistic regression models, lower level of language acquisition (p < 0.001) and higher Aberrant Behavior Checklist Irritability scores (p < 0.04) were associated with lower odds of bladder training by the age of 10 years. Lower level of language acquisition (p < 0.001) and ASD (p < 0.025) were associated with lower odds of bowel training by the age of 10 years. For both bladder and bowel training, Cox proportional hazard models indicated that delayed training was associated with male sex, lower levels of language acquisition, and ASD for both bladder training (n = 486; p < 0.001) and bowel training (n = 472; p < 0.001). CONCLUSION: These findings emphasize the importance of both slower language development and ASD diagnosis in predicting bowel and bladder training delays and can be used to develop and evaluate targeted approaches to TT based on sex, ASD diagnosis, and other clinical features identified in this study.
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Trastorno del Espectro Autista/epidemiología , Síntomas Conductuales/epidemiología , Síndrome del Cromosoma X Frágil/epidemiología , Trastornos del Desarrollo del Lenguaje/epidemiología , Sistema de Registros , Control de Esfínteres , Adolescente , Niño , Comorbilidad , Femenino , Humanos , Masculino , Factores SexualesRESUMEN
The purpose of this study is to describe the interplay of adolescent girls' and young womens' self-concept, coping behaviors, and adjustment associated with knowledge of genetic risk for fragile X syndrome. We will report here findings on self-concept. Using a multi-group cross-sectional design this study focused on girls ages 14-25 years from families previously diagnosed with fragile X syndrome, who knew they were (1) carriers (n = 20; mean age 18.35 years s.d. 2.5), or (2) noncarriers (n = 18; mean age 17.78 years s.d. 2.69), or (3) at-risk to be carriers (n = 15; mean age 17.87 s.d. 3.18). The girls completed the Tennessee Self-Concept Scale (TSCS:2), a visual analog scale, and a guided interview. Total and all subscale scores on the TSCS:2 were in the normal range for all three groups. However, threats to self-concept were found in personal self (physical self, genetic identity, and parental role), social self, and family self (family genetic identity) as they specifically related to the meaning of genetic information and varied based on risk status. Our findings suggest that risk information itself is threatening and for some girls, may be as threatening as learning one is a carrier. Certainty related to genetic risk status appears to make a positive difference for some girls by allowing them the opportunity to face the challenge of their genetic risk status and to begin to consider the meaning of this information.
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Síndrome del Cromosoma X Frágil/genética , Tamización de Portadores Genéticos , Asesoramiento Genético , Vida , Autoimagen , Adolescente , Adulto , Femenino , Humanos , Entrevistas como Asunto , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Factores de Riesgo , Estados UnidosRESUMEN
Energy-dependent patterns in the arrival directions of cosmic rays are searched for using data of the Pierre Auger Observatory. We investigate local regions around the highest-energy cosmic rays with [Formula: see text] eV by analyzing cosmic rays with energies above [Formula: see text] eV arriving within an angular separation of approximately 15[Formula: see text]. We characterize the energy distributions inside these regions by two independent methods, one searching for angular dependence of energy-energy correlations and one searching for collimation of energy along the local system of principal axes of the energy distribution. No significant patterns are found with this analysis. The comparison of these measurements with astrophysical scenarios can therefore be used to obtain constraints on related model parameters such as strength of cosmic-ray deflection and density of point sources.
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This study explored age preferences about when to learn at-risk status and have carrier testing in women who were undergoing testing for fragile X. Forty-two women (20 carriers and 22 noncarriers) completed a structured interview prior to carrier testing and after learning their result. The majority favored learning at-risk status and carrier status at < 18 years for themselves and their children. Preferred ages fell into four developmental categories: early childhood (0-9), preteen (10-13), teen (14-17), and adult (>or= 18). Although no significant mean changes in age responses were found between interviews or between carrier and noncarrier responses, a difference in the pattern of responses related to age categories was suggested. There appeared to be an increase in the number of responses in the 0-9 category at time 2. Also, the mean ages for testing were older than they were for telling at time 1, but not at time 2. For women indicating ages 0-9, the most frequent reason was to provide children with time to adjust. Those reporting ages 10-13 felt that the onset of puberty as well as a child's ability to understand, adjust, and cope were key determinants. Those preferring the teen years felt the possibility of sexual activity and planning for the future were important considerations. The developmental focus for adults was serious relationships. This study, through its unique longitudinal perspective of transition from uncertainty to certainty, builds on prior knowledge, has implications for genetic counseling, and suggests that the developmental stage of the child is important in determining when to tell and test.
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Síndrome del Cromosoma X Frágil/genética , Tamización de Portadores Genéticos/métodos , Heterocigoto , Adulto , Anciano , Confidencialidad , Revelación , Femenino , Síndrome del Cromosoma X Frágil/psicología , Humanos , Persona de Mediana Edad , Relaciones Padres-Hijo , Factores de TiempoRESUMEN
Using data from inclined events ( 60 degrees
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OBJECTIVE: A family was previously identified that cosegregates a pericentric inversion, inv(3)(p14 : q21), with an early-onset developmental condition, characterized by impulsive behavior and intellectual deficit. The inversion breakpoints lie within DOCK3 and SLC9A9 at the p-arm and q-arm, respectively. Based on this report, these genes were selected to be evaluated in a family-based attention-deficit/hyperactivity disorder (AD/HD) association study. METHODS: Conners' Parent (CPRS) and Teacher (CTRS) Rating Scales of AD/HD symptoms and Conners' Continuous Performance Test (CPT) measures were collected and a minimal number of tagging single-nucleotide polymorphisms (SNPs) in each gene were selected for analysis. Analyses were performed on families who met research criteria for AD/HD. Using the program, QTDT, each tagging SNP was tested for association with T-scores from the Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) subscales according to the CTRS and CPRS, and five CPT measures. RESULTS: After adjusting for multiple testing, a SNP in the 3' UTR of SLC9A9, rs1046706, remained significantly associated (false discovery rate, q value <0.05) with scores on the DSM-IV hyperactive-impulsive and total symptom subscales according to the CTRS and errors of commission on the CPT. In addition, an intronic SLC9A9 SNP, rs2360867, remained significantly associated with errors of commission. CONCLUSION: Our results suggest that SLC9A9 may be related to hyperactive-impulsive symptoms in AD/HD and the disruption of SLC9A9 may be responsible for the behavioral phenotype observed in the inversion family. The association with SLC9A9 is particularly interesting as it was recently implicated in a genome-wide association study for AD/HD. Further investigation of the role of SLC9A9 in AD/HD and other behavioral disorders is warranted.