Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of depression and mania. Research suggests that the cumulative impact of common alleles explains 25-38% of phenotypic variance, and that rare variants may contribute to BD susceptibility. To identify rare, high-penetrance susceptibility variants for BD, whole-exome sequencing (WES) was performed in three affected individuals from each of 27 multiply affected families from Spain and Germany.

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.

Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression.

Non-invasive ventilation during surgery under neuraxial anaesthesia: a pathophysiological perspective on application and benefits and a systematic literature review.

Unlike general anaesthesia, neuraxial anaesthesia (NA) reduces the burden and risk of respiratory adverse events in the post-operative period. However, both patients affected by chronic obstructive pulmonary disease (COPD) and chest wall disorders and/or neuromuscular diseases may experience the development or the worsening of respiratory failure, even during surgery performed under NA; this latter negatively affects the function of accessory respiratory muscles, resulting in a blunted central response to hypercapnia and possibly in an exacerbation of cardiac dysfunction (NA-induced relative hypovolemia). According to European Respiratory Society (ERS) and American Thoracic Society (ATS) guidelines, non-invasive ventilation (NIV) is effective in the post-operative period for the treatment of both impaired pulmonary gas exchange and ventilation, while the intra-operative use of NIV in association with NA is just anecdotally reported in the literature.

Significance of Affection Changes during Pregnancy: Intimacy, Passion, and Commitment.

The complex process of gestation involves significant biological, psychological, and social changes for both women and men looking toward the same direction. The aim of this study was to analyze changes occurring in affective health between the members of a couple during pregnancy. For this, a cross sectional descriptive study using Sternberg's questionnaire based on his Triangular Theory of Love (intimacy, passion, and commitment) was implemented.

Improving individualised dosimetry in radioiodine therapy for hyperthyroidism using population biokinetic modelling.

The application of an individualised dosimetric procedure for radioiodine therapy requires the intensive use of resources in nuclear medicine facilities. In practice, the amount of data taken per patient is too limited to obtain an accurate estimate of the absorbed dose in the thyroid. The individualised absorbed dose estimates can be enhanced using statistical tools for population-based approaches.

Reconstruction of Moderate-Sized Scalp Defects: A 1-2-3 Rule.

Background And Objective: Excision of cutaneous scalp tumors results in surgical defects that are difficult to repair because of poor distensibility in this area of the body. The main aim of this study was to develop a structured algorithm to help choose the best technique for reconstructing scalp defects.

Material And Methods: Retrospective study of patients who required surgical reconstruction following excision of a cutaneous scalp tumor.

Noninvasive ventilation: education and training. A narrative analysis and an international consensus document.

Noninvasive ventilation (NIV) is an increasingly used method of respiratory support. The use of NIV is expanding over the time and if properly applied, it can save patients' lives and improve long-term prognosis. However, both knowledge and skills of its proper use as life support are paramount.

A multicentre observational study of the effectiveness, safety and economic impact of nivolumab on non-small-cell lung cancer in real clinical practice.

Background Immunotherapy has become a standard treatment for lung cancer; however, the high cost makes it necessary to assess health outcomes. Objective The aim of this study was to evaluate the effectiveness, safety and economic cost of nivolumab in real-world clinical practice. Setting Fifteen regional and academic hospitals from Spain participated in this study.

Clinical outcomes after tricuspid surgery : The role of previous cardiac surgery.

Background: The aim of our study was to assess the outcomes of surgical treatment for severe tricuspid regurgitation according to whether cardiac surgery had been performed before the tricuspid valve intervention.

Methods: Between 1996 and 2013, 201 consecutive patients with severe tricuspid regurgitation underwent tricuspid surgery at our center. Patients were classified according to whether or not they had undergone previous cardiac surgery, which 33% of the sample had.

Reconstruction Techniques of Choice for the Facial Cosmetic Units.

Background And Objectives: A broad range of skin flaps can be used to repair facial surgical defects after the excision of a tumor. The aim of our study was to develop a practical guideline covering the most useful skin grafts for each of the distinct facial cosmetic units.

Material And Methods: This was a multicenter study in which 10 dermatologists with extensive experience in reconstructive surgery chose their preferred technique for each cosmetic unit.

The Andalusian Bipolar Family (ABiF) Study: Protocol and sample description.

Introduction: Here, we present the first description of the Andalusian Bipolar Family (ABiF) Study. This longitudinal investigation of families from Andalusia, Spain commenced in 1997 with the aim of elucidating the molecular genetic causes of bipolar affective disorder. The cohort has since contributed to a number of key genetic findings, as reported in international journals.