Bad Nature, Bad Nurture, and Testimony Regarding MAOA and SLC6A4 Genotyping in Murder Trials

Recent research—in which subjects were studied longitudinally from childhood until adulthood—has started to clarify how a child’s environment and genetic makeup interact to create a violent adolescent or adult. For example, male subjects who were born with a particular allele of the monoamine oxidase A gene and also were maltreated as children had a much greater likelihood of manifesting violent antisocial behavior as adolescents and adults. Also, individuals who were born with particular alleles of the serotonin transporter gene and also experienced multiple stressful life events were more likely to manifest serious depression and suicidality. This research raises the question of whether testimony regarding a defendant’s genotype, exposure to child maltreatment, and experience of unusual stress is appropriate to present during the guilt or penalty phases of criminal trials, especially when capital punishment is a consideration. The authors present their experience in genotyping criminal defendants and presenting genetic information at criminal trials

Bad Nature, Bad Nurture, and Testimony Regarding MAOA and SLC6A4 Genotyping in Murder Trials

Recent research—in which subjects were studied longitudinally from childhood until adulthood—has started to clarify how a child’s environment and genetic makeup interact to create a violent adolescent or adult. For example, male subjects who were born with a particular allele of the monoamine oxidase A gene and also were maltreated as children had a much greater likelihood of manifesting violent antisocial behavior as adolescents and adults. Also, individuals who were born with particular alleles of the serotonin transporter gene and also experienced multiple stressful life events were more likely to manifest serious depression and suicidality. This research raises the question of whether testimony regarding a defendant’s genotype, exposure to child maltreatment, and experience of unusual stress is appropriate to present during the guilt or penalty phases of criminal trials, especially when capital punishment is a consideration. The authors present their experience in genotyping criminal defendants and presenting genetic information at criminal trials

A Hybrid Medium Voltage Multilevel Converter with Parallel Voltage-Source Active Filter

In consequence of high semiconductor losses, grid-connected medium voltage power converters are typically operated at switching frequencies of several hundred Hertz per switch position. Therefore, conventional converter systems require bulky and expensive LCL-filters in order to meet the harmonic limits given by the grid code. It is only possible to reduce the LCL-filter costs by semiconductor current derating and operation at increased switching frequencies, leading to a reduced utilization and efficiency of the converter system. To overcome these disadvantages of conventional converter systems, the presented hybrid converter uses a parallel voltage-source active output filter and thus allows a significant reduction of the passive component demand. An excellent harmonic performance is achieved for the operation with small passive filter components, revealing the potential for increasing the power density and efficiency of high power medium voltage converters. As a result, significant reductions of the filter losses and passive components as well as an increased utilization are achieved compared to a reference LCL-filter based converter system

MgII absorption systems with W_0 > 0.1 \AA for a radio selected sample of 77 QSOs and their associated magnetic fields at high redshifts

We present a catalogue of MgII absorption systems obtained from high resolution UVES/VLT data of 77 QSOs in the redshift range 0.6 < z < 2.0, and down to an equivalent width W_0 > 0.1 \AA. The statistical properties of our sample are found to be in agreement with those from previous work in the literature. However, we point out that the previously observed increase with redshift of dN/dz for weak absorbers, pertains exclusively to very weak absorbers with W_0 < 0.1 \AA. Instead, dN/dz for absorbers with W_0 in the range 0.1-0.3 \AA actually decreases with redshift, similarly to the case of strong absorbers. We then use this catalogue to extend our earlier analysis of the links between the Faraday Rotation Measure of the quasars and the presence of intervening MgII absorbing systems in their spectra. In contrast to the case with strong MgII absorption systems W_0 > 0.3 \AA, the weaker systems do not contribute significantly to the observed Rotation Measure of the background quasars. This is possibly due to the higher impact parameters of the weak systems compared to strong ones, suggesting that the high column density magnetized material that is responsible for the Faraday Rotation is located within about 50 kpc of the galaxies. Finally, we show that this result also rules out the possibility that some unexpected secondary correlation between the quasar redshift and its intrinsic Rotation Measure is responsible for the association of high Rotation Measure and strong intervening MgII absorption that we have presented elsewhere, since this would have produced an equal effect for the weak absorption line systems, which exhibit a very similar distribution of quasar redshifts.Comment: Accepted for publication in ApJ. 12 pages, 8 figure

OSNA Total Tumor Load for the Prediction of Axillary Involvement in Breast Cancer Patients: Should We use Different Thresholds According to the Intrinsic Molecular Subtype? MOTTO Study

Breast cancer; Molecular subtype; Total tumor loadCáncer de mama; Subtipo molecular; Carga tumoral totalCàncer de mama; Subtipus molecular; Càrrega tumoral totalAims: To assess the impact of the molecular subtype (MS) on the total number of CK19 mRNA copies in all positive SLN (TTL) threshold, to predict non-SLN affectation, and to compare 5 years progression-free survival (PFS) according to the risk of recurrence (ROR) group by PAM50. Methods: Cohort with infiltrating breast cancer with intra-operative metastatic SLN detected by one-step nucleic acid amplification (OSNA) assay who underwent subsequent ALND. Logistic regression was used to assess a possible interaction between TTL and MS(Triple Negative, Her-2-Enriched, Luminal A, or Luminal B), or hormone receptors (HR: positive or negative) by immunohistochemistry (IMH). Cox regression was used to compare PFS and OS in the 3 ROR groups (high, medium, or low). Results: TTL was predictive of non-SLN affectation in both univariate (OR [95% CI]: 1.72 [1.43, 2.05], P < .001) and multivariate (1.55 [95% CI: 1.04, 2.32], P = .030) models, but MS-IMH or HR-IMH, and their interactions with TTL were not (best multivariate model: HR + main effect OR 1.16 [95% CI: 0.18, 7.64], P = .874; interaction OR: 1.04 [0.7, 1.55], P = .835; univariate model: HR + main effect OR: 1.44 [95% CI: 0.85, 2.44], P = .180). PFS was lower in the high-risk ROR group (81.1%) than in the low-risk group (93.9%) (HR: 3.68 [95 CI: 1.70, 7.94], P < .001). Conclusions: our results do not provide evidence to support the utilization of subtype-specific thresholds for TTL values to make therapeutic decisions on the axilla. The ROR group was predictive of 5 years-PFS.This study was funded by Sysmex España, S.L

Incidence and treatment of diaphragmatic paralysis after cardiac surgery in children

Objective: Diaphragmatic paralysis (DP) caused by phrenic nerve injury is potentially life-threatening in infants. Phrenic nerve injury due to thoracic surgery is the most common cause of DP in children. We retrospectively analyzed incidence, surgical details, management and follow-up of our patients with DP after cardiac surgery to develop an algorithm for the management and follow-up. Methods: Retrospective analysis of 43 patients with DP after cardiac surgery performed between 1996 and 2000. Results: Median age at cardiac surgery was 1 month (range 3 days to 9 years). Incidence of DP was 5.4%. A trend towards higher incidences of DP were observed after arterial switch operation (10.8%, P=0.18), Fontan procedure (17.6%, P=0.056) and Blalock-Taussig Shunt (12.8%, P=0.10). Median time from cardiac surgery to surgical plication was 21 days (range 7-210 days). Transthoracic diaphragmatic plication was performed in 29/43 patients, no plication was done in 14/43 patients. Patients in whom diaphragmatic plication was required were younger (median age 2 months, range 21 days to 53 months versus 17.5 months, range 4 days to 110 months; P≪0.001). Indications for plication were failure to wean from ventilator (n=22), respiratory distress (n=4), cavopulmonary anastomosis (n=2), and failure to thrive (n=1). All these symptoms resolved after diaphragmatic plication, however, 8/29 patients with plication and 2/14 without plication died. Cause of death was not related to diaphragmatic plication in any patient. Position of plicated diaphragm was normal in 18/21 surviving patients 1 month after plication. In 2/12 surviving patients without plication hemidiaphragm showed a normal position 1 year after surgery. The rate of pulmonary infections was not significantly different during 12-60 months follow-up. Conclusions: DP is an occasional complication of cardiac surgery. High incidences of DP were seen after arterial switch operation, Fontan procedure and Blalock-Taussig shunt (BT). Respiratory insufficiency requires diaphragmatic plication in most infants with DP whereas older children may tolerate DP. Transthoracic diaphragmatic plication is an effective treatment of DP and achieves relief of respiratory insufficiency in most patients. Spontaneous recovery from postsurgical DP is rar