Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.

: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected. Our objective was to study the performance of GWNIPT in the detection of chromosomal abnormalities in pregnancies in which an invasive prenatal study was performed and in early pregnancy losses, in comparison with the reference test.

Predictors of functional impairment and awareness in people with dementia, mild cognitive impairment and healthy older adults from a middle-income country.

Objective: To investigate the demographic, clinical and cognitive correlates of functional capacity and its awareness in people with dementia (PwD; = 104), mild cognitive impairment (PwMCI; = 45) and controls (healthy older adults; = 94) in a sample from a middle-income country.

Methods: Dementia and MCI were diagnosed, respectively, with DSM-IV and Petersen criteria. Performance in activities of daily living (ADL) at three different levels [basic (The Katz Index of Independence), instrumental (Lawton instrumental ADL scale) and advanced (Reuben's advanced ADL scale)], measured through self- and informant-report, as well as awareness (discrepancy between self- and informant-report), were compared between groups.

Modulating FKBP5/FKBP51 and autophagy lowers HTT (huntingtin) levels.

Current disease-modifying therapies for Huntington disease (HD) focus on lowering mutant HTT (huntingtin; mHTT) levels, and the immunosuppressant drug rapamycin is an intriguing therapeutic for aging and neurological disorders. Rapamycin interacts with FKBP1A/FKBP12 and FKBP5/FKBP51, inhibiting the MTORC1 complex and increasing cellular clearance mechanisms. Whether the levels of FKBP (FK506 binding protein) family members are altered in HD models and if these proteins are potential therapeutic targets for HD have not been investigated.

Effect of pharmacokinetic/pharmacodynamic ratio on tigecycline clinical response and toxicity in critically ill patients with multidrug-resistant Gram-negative infections.

Introduction: The information about the pharmacokinetics and optimal dose of tigecycline in critically ill patients with severe underlying diseases is limited and controversial. In this study, we evaluate the pharmacokinetic parameters of tigecycline in critically ill patients with multidrug-resistant Gram-negative infection and explore the association between the pharmacokinetic/pharmacodynamic ratio and treatment response.

Methods: A prospective study was designed including critically ill patients treated with tigecycline for multidrug-resistant Gram-negative infections.

[Blastic plasmacytoid dendritic cell neoplasm variant acute leukemia: case report].

Blastic plasmacytoid dendritic cell blast neoplasm (BPDCN) is a rare and generally aggressive hematologic malignancy, requiring early recognition. Below is a description of the prolonged clinical course of a 60-year-old male patient with BPDCN from Venezuela, whose most relevant findings highlighted the presence of skin lesions, organomegaly, infiltration of the bone marrow and central nervous system. Systemic chemotherapy was prescribed after diagnosis; however, the patient died of respiratory complications during the induction phase of treatment.

Advances in additive manufacturing for bone tissue engineering scaffolds.

This article reviews the current state of the art of additive manufacturing techniques for the production of bone tissue engineering (BTE) scaffolds. The most well-known of these techniques include: stereolithography, selective laser sintering, fused deposition modelling and three-dimensional printing. This review analyses in detail the basic physical principles and main applications of these techniques and presents a list of biomaterials for BTE applications, including commercial trademarks.

Influence of antibiotic pressure on multi-drug resistant colonisation in critically ill patients.

Background: The aim of this study is to evaluate the risk factors for colonisation by multidrug resistant (MDR) in a critical care unit and the relationship between colonisation and the antibiotic pressure exerted by the antimicrobial treatments received by patients.

Methods: A prospective observational was designed. Patients admitted for more than 48 h to an intensive care unit were included.

Controlled degradability of PCL-ZnO nanofibrous scaffolds for bone tissue engineering and their antibacterial activity.

Up to date, tissue regeneration of large bone defects is a clinical challenge under exhaustive study. Nowadays, the most common clinical solutions concerning bone regeneration involve systems based on human or bovine tissues, which suffer from drawbacks like antigenicity, complex processing, low osteoinductivity, rapid resorption and minimal acceleration of tissue regeneration. This work thus addresses the development of nanofibrous synthetic scaffolds of polycaprolactone (PCL) - a long-term degradation polyester - compounded with hydroxyapatite (HA) and variable concentrations of ZnO as alternative solutions for accelerated bone tissue regeneration in applications requiring mid- and long-term resorption.

Genetic detection of Sonic hedgehog (Shh) expression and cellular response in the progression of acute through chronic demyelination and remyelination.

Multiple sclerosis is a demyelinating disease in which neurological deficits result from damage to myelin, axons, and neuron cell bodies. Prolonged or repeated episodes of demyelination impair remyelination. We hypothesized that augmenting Sonic hedgehog (Shh) signaling in chronically demyelinated lesions could enhance oligodendrogenesis and remyelination.

Postnatal Sonic hedgehog (Shh) responsive cells give rise to oligodendrocyte lineage cells during myelination and in adulthood contribute to remyelination.

Sonic hedgehog (Shh) regulates a wave of oligodendrocyte production for extensive myelination during postnatal development. During this postnatal period of oligodendrogenesis, we fate-labeled cells exhibiting active Shh signaling to examine their contribution to the regenerative response during remyelination. Bitransgenic mouse lines were generated for induced genetic fate-labeling of cells actively transcribing Shh or Gli1.

The impact of dementia, depression and awareness on activities of daily living in a sample from a middle-income country.

Objective: Previous studies have indicated that dementia and depression have a considerable impact on the functional capacity of older adults, also influencing awareness about ability. The purpose of the current study was to investigate the impact of dementia, depression and awareness on activities of daily living (ADL) in a sample from a middle-income country.

Methods: The current study explored impairments in basic, instrumental and advanced ADL using a factorial design comparing four groups: people with dementia and depression, people with dementia without depression, older adults with depression but no dementia and healthy older adults.

Myelin and oligodendrocyte lineage cells in white matter pathology and plasticity after traumatic brain injury.

Impact to the head or rapid head acceleration-deceleration can cause traumatic brain injury (TBI) with a characteristic pathology of traumatic axonal injury (TAI) and secondary damage in white matter tracts. Myelin and oligodendrocyte lineage cells have significant roles in the progression of white matter pathology after TBI and in the potential for plasticity and subsequent recovery. The myelination pattern of specific brain regions, such as frontal cortex, may also increase susceptibility to neurodegeneration and psychiatric symptoms after TBI.

In Vivo evaluation of adipogenic induction in fibrous and honeycomb-structured atelocollagen scaffolds.

Nowadays, soft tissue restoration techniques are mainly focused on volume regeneration instead of function recovering. So far, autologous fat transplant has been the most popular method although its multiple reported problems like volume and function loss. Adipose tissue engineering therefore emerges as a solution for development of biological substitutes for soft tissue which promotes not only volume regeneration but also function restoration with minimal consequences.

Re-assessing the dimensional structure of the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE): empirical evidence for a shortened Brazilian version.

Background: The dimensional structure, effective number of item responses and item redundancies are controversial features of the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE) requiring more light. The aims of the present study are to revisit the dimensional structure and propose a shorter version of the instrument.

Methods: The sample comprised 652 elderly and their informants, either attending a geriatric service of a public university clinic or enrolled in a health care provider database in Rio de Janeiro, Brazil.

Effect of the invader Boccardia proboscidea (Polychaeta: Spionidae) on richness, diversity and structure of SW Atlantic epilithic intertidal community.

In Mar del Plata (Argentine, SW Atlantic), a large seaside resort, the sewage discharges impact the littoral ecosystem. The invader polychaete Boccardia proboscidea has developed reefs since spring of 2008. The effect of this species on the richness, diversity and structure of epilithic intertidal community was assessed through an MBACI design in both sewage-impacted and reference sites, and Before/After the invasion.

Spontaneous behavior in the social homecage discriminates strains, lesions and mutations in mice.

Background: Modern molecular genetics create a rapidly growing number of mutant mouse lines, many of which need to be phenotyped behaviorally. Poor reliability and low efficiency of traditional behavioral tests have prompted the development of new approaches to behavioral phenotyping, such as fully automated analysis of behavior in the homecage.

New Method: We asked whether the analysis of spontaneous behavior during the first week in the social homecage system IntelliCage could provide useful prescreening information before specialized and time consuming test batteries are run.

Accuracy of the Brazilian version of the informant questionnaire on cognitive decline in the elderly at screening for dementia in community-dwelling elderly participants: findings from FIBRA-RJ study.

Objectives: To determine the accuracy of the Brazilian version of the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE-BR) for screening for dementia and to analyze the association of sociodemographic variables of the elderly participants and informant, as well as the mental health of the informant, in the scores of the questionnaire.

Methods: A cross-sectional study was carried out with 417 elderly participants and their informants from the sample of the Frailty in the Brazilian Elderly Study, Rio de Janeiro, Brazil. The older individuals were assessed by clinical, functional, and neurocognitive evaluation, and the diagnosis of dementia was established according to Diagnostic and Statistical Manual of Mental Disorder (Fourth Edition) criteria.

Spatial and long-term analyses of reference and sewage-impacted sites in the SW Atlantic (38°S, 57°W) for the assessment of sensitive and tolerant polychaetes.

Discharges of effluent in urbanized littoral areas produce nonlinear changes in benthic organisms. Data on the composition of the benthic community are often used to obtain environmental quality classifications that serve to indicate the health of the environment. This study conducted a comparative analysis of the polychaetes associated with mussel beds and related these results to the values of environmental variables at both reference and sewage-impacted sites over a 10 year period in a rocky intertidal habitat on the coast of the SW Atlantic.

Enhancement of Th1 immune responses to recombinant influenza nucleoprotein by Ribi adjuvant.

A broad coverage influenza vaccine against multiple viral strains based on the viral nucleoprotein (NP) is a goal pursued by many laboratories. If the goal is to formulate the vaccine with recombinant NP it is essential to count on adjuvants capable of inducing cellular immunity. This work have studied the effect of the monophosphoryl lipid A and trehalose dimycolate, known as the Ribi Adjuvant System (RAS), in the immune response induced in mice immunized with recombinant NP.

Reef-forming polychaetes outcompetes ecosystem engineering mussels.

In order to understand changes in the functioning and the community structure of intertidal ecosystem in sewage-impacted sites, a long-term monitoring coverage study (2004-2011) was carried out on abrasion platforms of the SW Atlantic. The intertidal zone is characterized by the mytilid Brachidontes rodriguezii, an ecosystem engineer. Since the austral spring of 2008, a demographic explosion of an invader polychaetes, Boccardia proboscidea, has produced massive biogenic structures around the sewage discharge outfall.

Amniocentesis and the risk of second trimester fetal loss in twin pregnancies: results from a prospective observational study.

Aim: To compare the rate of pregnancy loss between twin pregnancies undergoing a genetic amniocentesis (AC) and a control group with similar characteristics.

Methods: Prospective observational study on a population of twin pregnancies referred to our prenatal diagnosis unit for screening from 1990 to 2010. Those women referred for an AC were compared with those without indication for the procedure.

Factors related with symptom duration until diagnosis and treatment of symptomatic colorectal cancer.

Background: Colorectal cancer (CRC) survival depends mostly on stage at the time of diagnosis. However, symptom duration at diagnosis or treatment have also been considered as predictors of stage and survival. This study was designed to: 1) establish the distinct time-symptom duration intervals; 2) identify factors associated with symptom duration until diagnosis and treatment.

Screening for dementia: Brazilian version of the Informant Questionnaire on Cognitive Decline on the Elderly and its psychometric properties.

Aim: To assess the criterion validity of the Brazilian version of the Informant Questionnaire on Cognitive Decline on the Elderly (IQCODE-BR), and analyze the influence of educational level and age of both the elderly and the informants on the questionnaire scores.

Method: The study design was a cross-sectional study with a convenience sample. Convergent validity was assessed using the Mini-Mental State Examination, and the accuracy of the IQCODE-BR was evaluated by receiver operating characteristic curve analysis.

Impact of a community gardening project on vegetable intake, food security and family relationships: a community-based participatory research study.

This community-based participatory research project used popular education techniques to support and educate Hispanic farmworker families in planting and maintaining organic gardens. Measures included a pre- post gardening survey, key informant interviews and observations made at community-based gardening meetings to assess food security, safety and family relationships. Thirty-eight families enrolled in the study during the pre-garden time period, and four more families enrolled in the study during the post-garden period, for a total of 42 families enrolled in the 2009 gardening season.