Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders.

BACKGROUND: Recent studies report an important-and previously underestimated-role of rare variation in risk of obsessive-compulsive disorder (OCD) and chronic tic disorders (CTD). Using data from a large epidemiological study, we evaluate the distribution of potentially damaging copy number variation (pdCNV) in OCD and CTD, examining associations between pdCNV and the phenotypes of probands, including a consideration of early- vs. late-diagnoses. METHOD: The Obsessive-Compulsive Inventory-Revised (OCI-R) questionnaire was used to ascertain psychometric profiles of OCD probands. CNV were identified genome-wide using chromosomal microarray data. RESULTS: For 993 OCD cases, 86 (9%) were identified as pdCNV carriers. The most frequent pdCNV found was at the 16p13.11 region. There was no significant association between pdCNV and the OCI-R total score. However, pdCNV was associated with Obsessing and Checking subscores. There was no significant difference in pdCNV frequency between early- vs. late-diagnosed OCD probands. Of the 217 CTD cases, 18 (8%) were identified as pdCNV carriers. CTD probands with pdCNV were significantly more likely to have co-occurring autism spectrum disorder (ASD). CONCLUSIONS: pdCNV represents part of the risk architecture for OCD and CTD. If replicated, our findings suggest pdCNV impact some OCD symptoms. Genes within the 16p13.11 region are potential OCD risk genes.

Medium- and long-term functional behavior evaluations in an experimental focal ischemic stroke mouse model.

Cerebrovascular accident (CVA) is one of the leading causes of death and disability worldwide, as well as a major financial burden for health care systems. CVA rodent models provide experimental support to determine possible in vivo therapies to reduce brain injury and consequent sequelae. This study analyzed nociceptive, motor, cognitive and mood functions in mice submitted to distal middle cerebral artery (DMCA) occlusion. Male C57BL mice (n = 8) were randomly allocated to control or DMCA groups. Motor function was evaluated with the tests: grip force, rotarod and open field; and nociceptive threshold with von Frey and hot plate assessments. Cognitive function was evaluated with the inhibitory avoidance test, and mood with the tail suspension test. Evaluations were conducted on the seventh- and twenty-eighth-day post DMCA occlusion to assess medium- and long-term effects of the injury, respectively. DMCA occlusion significantly decreases muscle strength and spontaneous locomotion (p < 0.05) both medium- and long term; as well as increases immobility in the tail-suspension test (p < 0.05), suggesting a depressive-type behavior. However, DMCA occlusion did not affect nociceptive threshold nor cognitive functions (p > 0.05). These results suggest that, medium- and long-term effects of DMCA occlusion include motor function impairments, but no sensory dysfunction. Additionally, the injury affected mood but did not hinder cognitive function.

Perfil das admissões em uma unidade de terapia intensiva obstétrica de uma maternidade brasileira / Admission profile in an obstetrics intensive care unit in a maternity hospital of Brazil

OBJETIVOS: descrever a experiência de três anos com terapia intensiva em obstetrícia em Unidade de Terapia Intensiva em setor que permite que obstetras continuem conduzindo as pacientes obstétricas criticamente enfermas. MÉTODOS: estudo avaliando 933 pacientes atendidas na UTI obstétrica do Instituto Materno Infantil Prof. Fernando Figueira (IMIP) de setembro de 2002 a fevereiro de 2005. As variáveis foram idade, paridade, diagnóstico de admissão, época da admissão, diagnósticos e complicações durante o internamento, procedimentos invasivos empregados e resultado final. RESULTADOS: as três principais causas de internamento foram hipertensão (87 por cento), hemorragia obstétrica (4,9 por cento) e infecção (2,1 por cento). A idade média foi 25 anos e 65 por cento dos partos, cesarianas. Anemia foi achado freqüente (58,4 por cento). Outros diagnósticos: insuficiência renal, doença tromboembólica, cardiopatia, edema agudo de pulmão, sepse, choque hemorrágico. Das 814 pacientes admitidas com hipertensão associada à gestação, 65 por cento tinham pré-eclâmpsia grave, 16 por cento pré-eclâmpsia leve e 11 por cento eclâmpsia. Síndrome HELLP ocorreu em 46 por cento. Ventilação mecânica foi necessária em 3,6 por cento e hemotransfusão em 17 por cento. A duração média do internamento foi cinco dias (1-41). A taxa de óbito foi 2,4 por cento. CONCLUSÕES: a taxa de morte foi relativamente baixa, sugerindo que uma UTI conduzida por obstetras pode ser uma estratégia factível para reduzir a mortalidade materna.

OBJECTIVES: to describe a three-year experience with obstetric Intensive Care Units (ICU), a unit allowing obstetricians to continue to care for critically ill obstetrics patients. METHODS: the study evaluated all admissions (933) to the Obstetric ICU, in the Instituto Materno Infantil Prof. Fernando Figueira (IMIP), from September 2002 to February 2005. Age, parity, diagnosis, admission time, diagnosis during ICU stay, associated complications, invasive procedures utilized, and final outcome were analyzed. RESULTS: hypertension (87 percent), obstetric hemorrhage (4.9 percent) and obstetric infection (2.1 percent) were the major cause of the admissions analyzed. Mean age was 25 years, 65 percent of the patients delivered by cesarean-section. Anemia was a very common finding (58.4 percent). Other diagnoses were renal insufficiency, thromboembolic disease, cardiac disease, acute pulmonary edema, sepsis, and hemorrhagic shock. Of the 814 patients with pregnancy-associated hypertension 65 percent had severe pre-ecclampsia, 16 percent mild pre-ecclampsia, and 11 percent ecclampsia. HELLP syndrome was found in 46 percent. Mechanical ventilation was necessary in 3.6 percent and hemotransfusion in 17 percent of the patients. Mean stay was five day (1 a 41) days. Death occurred in 2.4 percent of the patients. CONCLUSIONS: the rate of deaths was low. An obstetric ICU managed by obstetricians could be a feasible way of dealing with maternal mortality.