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The article discusses a newly observed recurrent variable copy-number gain at Xq28, which is shown to lead to a dosage-dependent severity in the mentally retarded patients. A recombination mechanism that can be used for the mediation of the gain by using two different sets of low copy repeats is also explained.

The commonly accepted boundaries between the ego and the non-ego are naturally weakened by the experience of psychoanalysis, as is revealed by the Freudian Wo Es war, soll Ich werden. This article sets out to map the boundaries of the ego in psychoanalytic theory. The aim is twofold. First, to provide a metapsychological portrait of the ego by way of a consideration of its genesis, its outlines, and its limits as theorized by the main authors of the analytic corpus. Second, to show how this theory can provide new insights in approaching the concept of the ego. Besides considering Freud's work, this article weaves together three threads by reappraising the writings of Melanie Klein, Donald W. Winnicott, and Jacques Lacan. While Freud raises a number of crucial points relating to the boundaries of the ego, a comparative reading of these three authors highlights how their work reconsiders, elaborates on, or goes beyond Freud's views. From a reading of the Freudian corpus emerges a threefold definition of the boundaries of the ego: (1) intrasubjective: the ego opens onto the id, but is strictly separate from the repressed; (2) extrasubjective: the ego is established through opposition to external reality; (3) intersubjective: the ego, as it relates to the other, is experienced both as separated from the object while at the same time being the object of a series of identifications. Each in their own way, Klein, Winnicott, and Lacan shed new light on these questions according to their particular readings of different aspects of Freud's work. The aim of this paper is to underline the originality of these four authors by pointing out what they have in common and, then, where their thinking diverges. It also sheds light on a whole set of questions (the separation between the ego as agency and the subject of the unconscious, between the ego and reality, between the outside and the inside, between the subject and the object, between the ego and the alter ego) that pervade psychoanalytical theory. Ultimately it is the fragmentation of the Freudian Ich – as revealed by its diverse readings by the post-Freudians according to their respective clinical paradigms – that is the key to understanding the extent of the problem of the ego in psychoanalysis. [ABSTRACT FROM AUTHOR]

Résumé Objectifs Parce que les frontières communément admises du moi et du non-moi se trouvent naturellement fragilisées par l'expérience de la psychanalyse, comme le révèle d'emblée l'adage freudien Wo Es war, soll Ich werden , le présent texte entend redessiner la cartographie des problématiques du moi et de ses frontières dans la théorie psychanalytique. L'enjeu en est à la fois de préciser le portrait métapsychologique du moi, tel qu'il se dessine, en sa genèse, ses contours, ses limites, chez les principaux représentants de la théorie psychanalytique, et de montrer en quoi cette même théorie renouvelle par ailleurs un certain nombre de problématiques dans l'abord du moi. Méthode Pour ce faire, en plus d'une interrogation portant sur le corpus fondateur de Freud, l'article confronte, en un même espace, la pluralité des pistes développées par trois référents majeurs dans le champ analytique — Melanie Klein, Donald Winnicott et Jacques Lacan. Si Freud introduit en effet un certain nombre d'interrogations décisives relatives aux limites du moi, une lecture comparative de Klein, de Winnicott et de Lacan, met en valeur ce qui s'en trouve confirmé et prolongé, ce qui s'en trouve infléchi et révisé, ce qui s'en trouve dépassé et renouvelé. Résultats L'examen du corpus freudien permet de problématiser la situation du moi auquel se trouvent assignées ces triples limites : 1) intrasubjectives, en tant que le moi est ouvert sur le ça mais séparé « de manière tranchée » du refoulé ; 2) extrasubjectives, en tant que le moi se constitue en s'opposant à la réalité du monde extérieur ; 3) intersubjectives, en tant que le moi se vit, dans son rapport à l'autre, comme séparé de l'objet tout en étant l'objet d'une série d'identifications constituantes. Dans ces trois directions, les limites se trouvent profondément remaniées par les apports de Klein, de Winnicott et de Lacan, qui renouvèlent, chacun à leur manière, la problématique du moi et du non-moi selon qu'ils privilégient et prolongent telle ou telle des intuitions de Freud. Discussion Indiquer entre ces quatre auteurs les grandes convergences, et creuser par ailleurs leurs différences, permet de marquer l'originalité respective de chacune de leurs contributions. C'est aussi la continuité insistante dans la théorie psychanalytique de certaines problématiques relatives à la séparation entre l'instance du moi et le sujet de l'inconscient, entre le moi et la réalité, entre le dehors et le dedans, entre le sujet et l'objet, entre l'ego et l'alter ego, qui s'en trouve éclairée. Conclusions C'est finalement l'éclatement du Ich freudien et la dispersion des problématiques qui s'ensuit chez les post-freudiens privilégiant chacun telle ou telle piste en vertu des spécificités de leurs paradigmes cliniques, qui permettent de concevoir pleinement l'étendue du problème du moi dans la psychanalyse. Abstract Objectives The commonly accepted boundaries between the ego and the non-ego are naturally weakened by the experience of psychoanalysis, as is revealed by the Freudian Wo Es war, soll Ich werden. This article sets out to map the boundaries of the ego in psychoanalytic theory. The aim is two-fold. First, to provide a metapsychological portrait of the ego by way of a consideration of its genesis, its outlines and its limits as theorized by the main authors of the analytic corpus. Second, to show how this theory can provide new insights in approaching the concept of the ego. Method Besides considering Freud's work, this article weaves together three threads by reappraising the writings of Melanie Klein, Donald Winnicott and Jacques Lacan. While Freud raises a number of crucial points relating to the boundaries of the ego, a comparative reading of these three authors highlights how their work reconsiders, elaborates on or goes beyond Freud's views. Results From a reading of the Freudian corpus emerges a three-fold definition of the boundaries of the ego: 1) Intra-subjective: the ego opens onto the id, but is strictly separate from the repressed 2) Extra-subjective: the ego is established through opposition to external reality. 3) Inter-subjective: the ego, as it relates to the other, is experienced both as separated from the object while at the same time being the object of a series of identifications. Each in their own way, Klein, Winnicott and Lacan shed new light on these questions according to their particular readings of different aspects of Freud's work. Discussion The aim of this paper is to underline the originality of these four authors by pointing out what they have in common and what differentiates them. It also sheds light on a whole set of questions (the separation between the ego as agency and the subject of the unconscious, between the ego and reality, between the outside and the inside, between the subject and the object, between the ego and the alter ego) that pervade psychoanalytical theory. Conclusions Ultimately it is the shattered state of the Freudian Ich – as revealed by its diverse readings by the post-Freudians according to their respective clinical paradigms –that is the key to understanding the extent of the problem of the ego in psychoanalysis. [ABSTRACT FROM AUTHOR]

Background The influence of childbearing in the development of obesity is situated within two different but related contexts: pregnancy-related weight gain and weight gain prevention and control in young adult women. Pregnancy related weight gain contributes to long-term weight retention in childbearing women. Objective To present the study design, data collection procedures, recruitment challenges, and the baseline characteristics for the eMoms of Rochester study, a randomized clinical trial testing the effect of electronically-mediated behavioral interventions to prevent excessive gestational weight gain (GWG) and postpartum weight retention among women aged 18–35 years of diverse income and racial/ethnic backgrounds in an urban setting. Design Randomized double blind clinical trial. A total of 1722 women at or below 20 weeks of gestation were recruited primarily from obstetric practices and randomized to 3 treatment groups: control arm; intervention arm with access to intervention during pregnancy and control at postpartum (e-intervention 1); and intervention arm with access to intervention during pregnancy and postpartum (e-intervention 2). Enrollment and consent were completed via study staff or online. Data were collected via online surveys, medical charts, and measurement of postpartum weights. The primary endpoints are gaining more weight than recommended by the Institution of Medicine guidelines and weight retained at 12 months postpartum. Conclusion This study will provide evidence on the efficacy of behavioral interventions in the prevention of excessive GWG and postpartum weight retention with potential dissemination to obstetric practices and/or health insurances. ClinicalTrials.gov # NCT01331564 . [ABSTRACT FROM AUTHOR]

Background Sixty percent of cancer survivors are 65 years of age or older. Cancer and its treatments lead to cancer-related fatigue and many other side effects, in turn, creating substantial global side-effect burden (total burden from all side effects) which, ultimately, compromises functional independence and quality of life. Various modes of exercise, such as yoga, reduce cancer-related fatigue and global side-effect burden in younger cancer survivors, but no studies have specifically examined the effects of yoga on older cancer survivors. Objectives The purpose of this study was to assess the effects of a 4-week yoga intervention (Yoga for Cancer Survivors: YOCAS©®) on overall cancer-related fatigue, and due to its multidimensional nature, the subdomains of cancer-related fatigue (general, physical, emotional, and mental) and global side-effect burden in older cancer survivors. Materials and Methods We conducted a secondary analysis on data from a multicenter phase III randomized controlled clinical trial with 2 arms (standard care and standard care plus a 4-week YOCAS©® intervention). The sample for this secondary analysis was 97 older cancer survivors (≥ 60 years of age), between 2 months and 2 years post-treatment, who participated in the original trial. Results Participants in the YOCAS©® intervention arm reported significantly lower cancer-related fatigue, physical fatigue, mental fatigue, and global side-effect burden than participants in the standard care arm following the 4-week intervention period (p < 0.05). Conclusions YOCAS©® is an effective standardized yoga intervention for reducing cancer-related fatigue, physical fatigue, mental fatigue, and global side-effect burden among older cancer survivors. [ABSTRACT FROM AUTHOR]

The main objective of this research was to create a robust hierarchical model to evaluate the power generation technologies in the energy mix of any country, with particular emphasis on its use in the case study of Spain. An exhaustive literature review allowed to identify a balanced number of the most relevant criteria that the model should consider to evaluate the seven alternatives that cover most of the Spanish energy demand. Through expert knowledge, the Analytic Hierarchy Process (AHP) methodology allowed to obtain the local and global weights of the criteria used in the model. Using these weights and the assessments of alternatives for each criterion, their ranking was determined through both AHP and a novel fuzzy inference system (FIS), whose inference rules were automatically constructed based on the weights of the criteria and a distance minimization method. The design of this FIS constitutes the main contribution of the work, firstly, because it avoids a second round of experts consultations and, secondly, because it systematically conceptualises the knowledge base that allows to infer the individual evaluation of any alternative, without the risk of rank reversal that may occur if using only AHP. The results of the case study of Spain showed that environmental was the most important criterion. In terms of the comparative AHP merit order, Photovoltaic (PV) was ranked first and Coal last. In addition, the individual assessment of the technologies through FIS yielded results consistent with the previous AHP ranking. Finally, a sensitivity analysis was performed, which showed good stability in the results obtained. [ABSTRACT FROM AUTHOR]

Abstract: In 1990, the Institute of Medicine (IOM) issued maternal weight gain guidelines to prevent intrauterine growth retardation based on adult prepregnancy body mass index (BMI; calculated as kg/m2). A recent IOM report, however, expressed concerns regarding application of adult criteria (prepregnancy BMI and gestational weight gain recommendations) to categorize pregnant adolescents. To draw attention to the assessment of prepregnancy weight status among adolescents and to its potential clinical implications, we estimated the percent discordance between the Centers for Disease Control and Prevention (CDC) BMI-for-age categories currently used for the assessment of adolescent weight status (underweight, healthy weight, at risk of overweight, and overweight) and the IOM-based categories (low, average, high, obese) among 11,656 adolescents 12 to 20 years old from a birth registry. Approximately one quarter of all adolescents in this sample and 40% of young adolescents (12 to 15 years old) were “misclassified.” Among healthy weight adolescents, 23.4% and 0.6% were “misclassified” as low and high, respectively, by IOM categories. Among at-risk of overweight adolescents, 13.5% and 26.9% were “misclassified” as average and obese by IOM categories. Based on our findings, we suggest that adolescent prepregnancy weight categories be assessed using the CDC BMI charts and to examine gestational weight gain distributions exclusively among adolescents according to the CDC BMI categories. [Copyright &y& Elsevier]

Abstract: Objective: The purpose of this qualitative study was to explore the experiences of partners of women with endometriosis. Methods: Sixteen male partners completed questionnaires pertaining to the impact of endometriosis. Three male partners participated in additional semistructured interviews. Results: Thematic analysis of combined questionnaire and interview data revealed several common emotional themes relating to living with endometriosis. These strong emotions included low mood, anxiety, and powerlessness and contributed to a grief-like process much like that experienced by their female partners, with some also reporting acceptance and relationship growth. The clinical significance of these findings for systemically effective management of endometriosis will be discussed. [Copyright &y& Elsevier]

Objective: To develop and test the Neonatal Encephalopathy-Rating Scale (NE-RS), a new rating scale to grade the severity of neonatal encephalopathy (NE) within the first 6 hours after birth.Study Design: A 3-phase process was conducted: (1) design of a comprehensive scale that would be specific, sensitive, brief, and unsophisticated; (2) evaluation in a cohort of infants with neonatal encephalopathy and healthy controls; and (3) validation with brain magnetic resonance imaging findings and outcome at 2 years of age.Results: We evaluated the NE-RS in 54 infants with NE and 28 healthy infants. The NE-RS had excellent internal consistency (Cronbach alpha coefficient: 0.93 [95% CI 0.86-0.94]) and reliability (intraclass correlation coefficient in the NE cohort 0.996 [95% CI 0.993-0.998; P < .001]). Alertness, posture, motor response, and spontaneous activity were the top discriminators for degrees of NE. The cut-off value for mild vs moderate NE was 8 points (area under the curve [AUC] 0.99, 95% CI 0.85-1.00) and for moderate vs severe NE, 30 points (AUC 0.93, 95% CI 0.81-0.99). The NE-RS was significantly correlated with the magnetic resonance imaging score (Spearman Rho 0.77, P < .001) and discriminated infants who had an adverse outcome (AUC 0.91, 95% CI 0.83-0.99, sensitivity 0.82, specificity 0.81, positive predictive value 0.87, negative predictive value 0.74).Conclusions: The NE-RS is reliable and performs well in reflecting the severity of NE within the first 6 hours after birth. This tool could be useful when assessing clinical criteria for therapeutic hypothermia in NE. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding the thymic stromal lymphopoietin (TSLP), an interleukin (IL)-7-like cytokine expressed by epithelial cells when there is any injury to the stratum corneum.

Germinal matrix-intraventricular hemorrhage (GM-IVH) is one of the most common complications of the preterm newborn. The pathology of the GM-IVH is not completely understood and even regions distant from the lesion area are severely affected. It has been suggested that cerebellar diaschisis may underlie the neurodevelopmental problems that many of these kids show, including cerebral palsy, attention deficit disorders or hyperactivity. Additionally, GM-IVH has no successful treatment. VP3.15 is a dual action phosphodiesterase 7 (PDE7) and glycogen synthase kinase-3β (GSK-3β) inhibitor that limits neuroinflammation and neuronal loss. Therefore, it might also provide a relevant tool to reduce complications associated with GM-IVH. We have used a murine model of GM-IVH to analyze the short and long-term effects of VP3.15 in brain pathology and behavioral complications. In our hands, the induction of unilateral GM-IVH to P7 CD1 mice results in a short-term (P14) compromise of the cerebellar neuronal population and Purkinje cells arborization, an increase of microglia burden in the nuclei and an overall increase of punctuate cerebellar hemorrhages. Whereas brain alterations are no longer observed in the long term (P110), these animals present overt hyperactivity when analyzed in the adulthood, supporting the long-term behavioral impairment. Also, hyperactivity significantly correlates with ipsi and contralateral cerebellar sizes, neuronal densities and myelin basic protein levels. Importantly, treatment with VP3.15 significantly reduces neuronal loss, Purkinje cells simplification, the presence of cerebellar hemorrhages, as well as hyperactivity. Altogether, our data support the neuroprotective effects of VP3.15 in GM-IVH of the PT. [Display omitted] • GM-IVH leads to cerebellar bleeding, neuronal loss and reduced Purkinje cell arborization. • GM-IVH associated hyperactivity predicts cerebellar size, neuronal loss and MBP levels. • VP3.15, a GSK-3β and PDE7 inhibitor, limits cerebellar bleeding and neuronal compromise. • VP3.15 also reduces hyperactivity after GM-IVH. [ABSTRACT FROM AUTHOR]

Migration of vascular smooth muscle cells (VSMCs) contributes to vascular pathology. PDGF induces VSMC migration by a Nox1-based NADPH oxidase mediated mechanism. We have previously shown that PDGF-induced migration in VSMCs requires Slingshot-1L (SSH1L) phosphatase activity. In the present work, the mechanism of SSH1L activation by PDGF is further investigated. We identified a 14-3-3 consensus binding motif encompassing Ser-834 in SSH1L that is constitutively phosphorylated. PDGF induces SSH1L auto-dephosphorylation at Ser-834 in wild type (wt), but not in Nox1-/y cells. A SSH1L-S834A phospho-deficient mutant has significantly lower binding capacity for 14-3-3 when compared with the phospho-mimetic SSH1L-S834D mutant, and acts as a constitutively active phosphatase, lacking of PDGF- mediated regulation. Given that Nox1 produces reactive oxygen species, we evaluated their participation in this SSH1L activation mechanism. We found that H2O2 activates SSH1L and this is accompanied by SSH1L/14-3-3 complex disruption and 14-3-3 oxidation in wt, but not in Nox-/y cells. Together, these data demonstrate that PDGF activates SSH1L in VSMC by a mechanism that involves Nox1-mediated oxidation of 14-3-3 and Ser-834 SSH1L auto- dephosphorylation. [ABSTRACT FROM AUTHOR]