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991.
Exome sequences of multiplex,multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance
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Mark Z. Kos Melanie A. Carless Juan Peralta Joanne E. Curran Ellen E. Quillen Marcio Almeida August Blackburn Lucy Blondell David R. Roalf Michael F. Pogue‐Geile Ruben C. Gur Harald H.H. Göring Vishwajit L. Nimgaonkar Raquel E. Gur Laura Almasy 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2017,174(8):817-827
992.
Samuel Sarrazin Marc-Antoine d’Albis Colm McDonald Julia Linke Michèle Wessa Mary Phillips Marine Delavest Louise Emsell Amelia Versace Jorge Almeida Jean-Fran?ois Mangin Cyril Poupon Katia Le Dudal Claire Daban Nora Hamdani Marion Leboyer Josselin Houenou 《Journal of psychiatry & neuroscience : JPN》2015,40(5):352-359
Background
Previous studies have reported MRI abnormalities of the corpus callosum (CC) in patients with bipolar disorder (BD), although only a few studies have directly compared callosal areas in psychotic versus nonpsychotic patients with this disorder. We sought to compare regional callosal areas in a large international multicentre sample of patients with BD and healthy controls.Methods
We analyzed anatomic T1 MRI data of patients with BD-I and healthy controls recruited from 4 sites (France, Germany, Ireland and the United States). We obtained the mid-sagittal areas of 7 CC subregions using an automatic CC delineation. Differences in regional callosal areas between patients and controls were compared using linear mixed models (adjusting for age, sex, handedness, brain volume, history of alcohol abuse/dependence, lithium or antipsychotic medication status, symptomatic status and site) and multiple comparisons correction. We also compared regional areas of the CC between patients with BD with and without a history of psychotic features.Results
We included 172 patients and 146 controls in our study. Patients with BD had smaller adjusted mid-sagittal CC areas than controls along the posterior body, the isthmus and the splenium of the CC. Patients with a positive history of psychotic features had greater adjusted area of the rostral CC region than those without a history of psychotic features.Limitations
We found small to medium effect sizes, and there was no calibration technique among the sites.Conclusion
Our results suggest that BD with psychosis is associated with a different pattern of interhemispheric connectivity than BD without psychosis and could be considered a relevant neuroimaging subtype of BD. 相似文献993.
994.
Elis R. Dalla Costa Sidra E. G. Vasconcelos Leonardo S. Esteves Harrison M. Gomes Lia L. Gomes Pedro Almeida da Silva Jo?o Perdig?o Isabel Portugal Miguel Viveiros Ruth McNerney Arnab Pain Taane G. Clark Nalin Rastogi Gisela Unis Maria Lucia R. Rossetti Philip Noel Suffys 《Journal of clinical microbiology》2015,53(12):3805-3811
We recently detected the spoligotype patterns of strains of Mycobacterium pinnipedii, a species of the Mycobacterium tuberculosis complex, in sputum samples from nine cases with pulmonary tuberculosis residing in Porto Alegre, South Brazil. Because this species is rarely encountered in humans, we further characterized these nine isolates by additional genotyping techniques, including 24-locus mycobacterial interspersed repetitive-unit–variable-number tandem-repeat (MIRU-VNTR) typing, verification of the loci TbD1, RD9, pks15/1, RDRio, and fbpC, the insertion of IS6110 at a site specific to the M. tuberculosis Latin American Mediterranean (LAM) lineage, and whole-genome sequencing. The combined analysis of these markers revealed that the isolates are in fact M. tuberculosis and more specifically belong to the LAM genotype. Most of these isolates (n = 8) were shown to be multidrug resistant (MDR), which prompted us to perform partial sequencing of the rpoA, rpoB, rpoC, katG, and inhA genes. Seven isolates (77.8%) carried the S315T mutation in katG, and one of these (11%) also presented the C(−17)T single-nucleotide polymorphism (SNP) in inhA. Interestingly, six of the MDR isolates also presented an undescribed insertion of 12 nucleotides (CCA GAA CAA CCC) in codon 516 of rpoB. No putative compensatory mutation was found in either rpoA or rpoC. This is the first report of an M. tuberculosis LAM family strain with a convergent M. pinnipedii spoligotype. These spoligotypes are observed in genotype databases at a modest frequency, highlighting that care must be taken when identifying isolates in the M. tuberculosis complex on the basis of single genetic markers. 相似文献
995.
C. P. Vieira F. Da Ré Guerra L. P. de Oliveira M. S. Almeida Maria Cristina Cintra Marcondes E. R. Pimentell 《Connective tissue research》2015,56(1):50-58
AbstractPurpose: Green tea (GT) is widely used due to its anti-inflammatory properties. Previous studies have shown beneficial effects of a glycine diet on the remodeling process in inflamed tendons. Tendinitis is commonly observed in athletes and is of concern to surgeons due to the slowness of the recovery process. Our hypothesis is that GT?+?a glycine diet may improve tendinitis. Aim of the study: To analyze the effect of GT and/or glycine in the diet on tendinitis. Materials and methods: Wistar rats were divided into seven groups (G): control group (C); G1 and G4, tendinitis; G2 and G5, tendinitis supplied with GT; and G3 and G6, tendinitis supplied with GT and a glycine diet for 7 or 21 days, respectively. We performed zymography for metalloproteinase, biochemical, morphological and biomechanics tests. Results: G2, G3 and G5 showed high levels of hydroxyproline in relation to G1, while G4 showed high levels of glycosaminoglycans. High activity of metalloproteinase-2 was detected in G3. The organization of collagen bundles was better in G2 and G3. G5 showed similar birefringence measurements compared with C. G5 withstood a larger load compared with G4. Conclusions: The presence of metalloproteinase-2 indicates that a tissue is undergoing a remodeling process. High birefringence suggests a better organization of collagen bundles. After 21 days, G5 sustained a high load before rupture, unlike G4. The results suggest that GT?+?a glycine diet has beneficial effects that aid in the recovery process of the tendon after tendinitis. 相似文献
996.
Andrei Itajahy Secundo de Souza Diego Felipe Alves Batista Anny Lucia del Pilar Celis Estupinan Adriana Maria de Almeida Paul Andrew Barrow 《Avian pathology》2015,44(6):475-479
Salmonella Gallinarum (SG) and Salmonella Pullorum (SP) have been classified as biovars belonging to Salmonella enterica subsp. enterica serovar Gallinarum. Genetic diversity among isolates of the same biovar can be detected by DNA fingerprinting techniques which are useful in epidemiological investigations. In this study, we applied the PCR amplification of Enterobacterial Repetitive Intergenic Consensus sequences (ERIC-PCR) to analyse 45 strains of SG and SP, most of which were isolated from diseased poultry of different Brazilian regions over a period of 27 years until 2014. The ERIC-genotypes obtained were used to describe the epidemiological relationship amongst the strains. Our findings showed that there were six ERIC-patterns for SG strains at 80% similarity. In addition, some of the SG isolates recovered from different regions and years clustered with 100% similarity, suggesting that transfer of genotypes between these regions has taken place. The commercial rough vaccine strain 9R showed a unique profile. Meanwhile, more genetic diversity was observed among SP strains where ten ERIC-patterns were also formed at 80% similarity. 相似文献
997.
Glucose-6-phosphate dehydrogenase variants: reexamination of G6PD Chicago and Cornell and a new variant (G6PD Pea Ridge) resembling G6PD Chicago 总被引:3,自引:0,他引:3
Two large and unrelated families were investigated for hereditary nonspherocytic hemolytic anemia associated with deficiency of erythrocyte glucose-6-phosphate dehydrogenase (G6PD). In both families, the kinetic and electrophoretic features of the G6PD variants resembled those of G6PD Chicago. Further investigation revealed that members of one of these families previously had been characterized as having the G6PD variants Chicago and Cornell. However, it is clear that each of these terms has been applied to the same variant in this single large kindred. In the second family, we describe a newly identified variant with unique characteristics, which we have designated G6PD Pea Ridge. G6PD Pea Ridge resembles G6PD Chicago but differs in electrophoretic mobility and in a few kinetic parameters. It exhibits an unusually high Ki for NADPH and thus appears to be insensitive to product inhibition. As other cases previously considered to be the Chicago variant become more fully characterized, this probably will be shown to be a heterogeneous group of variants. 相似文献
998.
de Almeida LM Funchal C Pelaez Pde L Pessutto FD Loureiro SO Vivian L Wajner M Pessoa-Pureur R 《Metabolic brain disease》2003,18(3):207-219
In this study we investigated the in vivo and in vitro effects of methylmalonic (MMA) and propionic acids (PA), at concentrations usually found in methylmalonic acidemia and propionic acidemia respectively, on the phosphorylation of intermediate filament proteins in cerebral cortex of rats during development. Rats of 9, 12, and 17 days were acutely injected with the acids and sacrificed 90 min after injection. The cerebral cortex was dissected, and slices were incubated with 32P-orthophosphate. The cytoskeletal fraction was extracted and the radioactivity incorporated into intermediate filament subunits was measured. In addition, cortical slices from nontreated rats of 9, 12, 15, 17, 21, and 60 days of life were incubated with the acids in the presence of 32P-orthophosphate, the cytoskeletal fraction was extracted and the radioactivity was measured. Results demonstrated that MMA and PA significantly decreased the radioactivity incorporated into intermediate filament proteins at day 12, both in vivo and in tissue slices. In contrast, PA increased the in vitro phosphorylation of the cytoskeletal proteins in slices of 21-day-old animals. It acts through PP2A and PP2B in 12-day-old rats and through PKA and PKCaMII in 21-day-old animals. We propose that alteration of cytoskeletal protein phosphorylation caused by methylmalonic and propionic acids may be related to the neurological dysfunction characteristic of propionic and methylmalonic acidemia. 相似文献
999.
Vinayak Bapat Vivek Rajagopal Christopher Meduri R. Saeid Farivar Antony Walton Stephen J. Duffy Robert Gooley Aubrey Almeida Michael J. Reardon Neal S. Kleiman Konstantinos Spargias Stratis Pattakos Martin K. Ng Michael Wilson David H. Adams Martin Leon Michael J. Mack Sharla Chenoweth Simon Redwood 《Journal of the American College of Cardiology》2018,71(1):12-21
Background
Transcatheter mitral valve replacement (TMVR) is a potential therapy for patients with symptomatic, severe mitral regurgitation (MR). The feasibility of this therapy remains to be defined.Objectives
The authors report their early experience with TMVR using a new valve system.Methods
The valve is a self-expanding, nitinol valve with bovine pericardial leaflets that is placed using a transapical delivery system. Patients with symptomatic MR who were deemed high or extreme risk by the local heart teams were enrolled in a global pilot study at 14 sites (United States, Australia, and Europe).Results
Fifty consecutively enrolled patients (mean age: 73 ± 9 years; 58.0% men; 84% secondary MR) underwent TMVR with the valve. The mean Society for Thoracic Surgery score was 6.4 ± 5.5%; 86% of patients were New York Heart Association functional class III or IV, and the mean left ventricular ejection fraction was 43 ± 12%. Device implant was successful in 48 patients with a median deployment time of 14 min (interquartile range: 12 to 17 min). The 30-day mortality was 14%, with no disabling strokes, or repeat interventions. Median follow-up was 173 days (interquartile range: 54 to 342 days). At latest follow-up, echocardiography confirmed mild or no residual MR in all patients who received implants. Improvements in symptom class (79% in New York Heart Association functional class I or II at follow-up; p < 0.0001 vs. baseline) and Minnesota Heart Failure Questionnaire scores (56.2 ± 26.8 vs. 31.7 ± 22.1; p = 0.011) were observed.Conclusions
TMVR with the valve was feasible in a study group at high or extreme risk for conventional mitral valve replacement. These results inform trial design of TMVR in lower-risk patients with severe mitral valve regurgitation (Evaluation of the Safety and Performance of the Twelve Intrepid Transcatheter Mitral Valve Replacement System in High Risk Patients with Severe, Symptomatic Mitral Regurgitation – The Twelve Intrepid TMVR Pilot Study; NCT02322840) 相似文献1000.
Nursing home-acquired pneumonia (NHAP) is one of the most common infections arising amongst nursing home residents, and its incidence is expected to increase as population ages. The NHAP recommendation for empiric broad-spectrum antibiotic therapy, arising from the concept of healthcare-associated pneumonia, has been challenged by recent studies reporting low rates of multidrug-resistant (MDR) bacteria. This single center study analyzes the results of NHAP patients admitted through the Emergency Department (ED) at a tertiary center during the year 2010. There were 116 cases, male gender corresponded to 34.5 % of patients and median age was 84 years old (IQR 77–90). Comorbidities were present in 69.8 % of cases and 48.3 % of patients had used healthcare services during the previous 90 days. In-hospital mortality rate was 46.6 % and median length-of-stay was 9 days. Severity assessment at the Emergency Department provided CURB65 index score and respective mortality (%) results: zero: n = 0; one: n = 7 (0 %); two: n = 18 (38.9 %); three: n = 26 (38.5 %); four: n = 30 (53.3 %); and five; n = 22 (68.2 %); and sepsis n = 50 (34.0 %), severe sepsis n = 43 (48.8 %) and septic shock n = 22 (72.7 %). Significant risk factors for in-hospital mortality in multivariate analysis were polypnea (p = 0.001), age ≥ 75 years (p = 0.02), and severe sepsis or shock (p = 0.03) at the ED. Microbiological testing in 78.4 % of cases was positive in 15.4 % (n = 15): methicillin-resistant Staphylococcus aureus (26.7 %), Pseudomonas aeruginosa (20.0 %), S. pneumoniae (13.3 %), Escherichia coli (13.3 %), others (26.7 %); the rate of MDR bacteria was 53.3 %. This study reveals high rates of mortality and MDR bacteria among NHAP hospital admissions supporting the use of empirical broad-spectrum antibiotic therapy in these patients. 相似文献