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Efficacy of Acute and Long-Term Photobiomodulation Therapy on Fatigue and Muscle Performance in Different Animal Models: a Systematic Review LongTerm Long Term Models
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Vassão, Patricia Gabrielli
; Balão, Ana Beatriz
; Campos, Raquel Munhoz da Silveira
; Sales, Abdias Fernando Simon
; Parisi, Julia Risso
; Andrade, Ana Laura Martins de
; Tucci, Helga Tatiana
; Garcia, Livia Assis
; Renno, Ana Claudia Muniz
.
Brazilian Archives of Biology and Technology
- Métricas do periódico
Abstract Muscular fatigue is associated with repeated muscle contraction exercises and with intense use of muscles with high intensity leading to a decline of performance and inability to continue with the same activity original intensity of activity. One of most promising interventions is the photobiomodulation therapy (PBMT). The objective was to analyze the results of the studies that investigated the effects of acute and long-term photobiomodulation in experimental animal models of muscle fatigue levels. The review was registered with PROSPERO (CRD42021274444). 10 studies were identified (n=366 animals). 77% used histological analysis and blood level of lactate measures to record changes in fatigue and were considered moderate evidence. Nine chose isotonic contractions and one study opted for isometric contraction to induce fatigue. 77% applied long term PBMT and 33% applied an acute form. Most of the studies used the infrared wavelength; the power output varied from 0.625mW to 300mW and energy per point varied from 0.105J to 12J. This review demonstrates that PBMT has positive effects in acute and long-term treatment decreasing the level of fatigue and accelerating exercise performance in different animal models, even with distinct PBMT parameters and number of therapy sessions PBMT. . (PBMT) longterm levels CRD42021274444. CRD42021274444 CRD (CRD42021274444) 1 n=366 n366 n 366 (n=36 animals. animals animals) 77 evidence 33 form wavelength 0625mW mW 0 625mW 0105J J 105J 12J (PBMT CRD4202127444 (CRD42021274444 n=36 n36 36 (n=3 7 3 CRD420212744 (CRD4202127444 n=3 n3 (n= CRD42021274 (CRD420212744 n= (n CRD4202127 (CRD42021274 CRD420212 (CRD4202127 CRD42021 (CRD420212 CRD4202 (CRD42021 CRD420 (CRD4202 CRD42 (CRD420 CRD4 (CRD42 (CRD4 (CRD
2.
The impact of a breast cancer diagnosis on marital outcomes and factors associated with divorce and separation
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Werutsky, Gustavo
; Lopes, Mahira
; Jesus, Rafaela Gomes de
; Gazola, Antonia Angeli
; Pellegrini, Rodrigo Azevedo
; Rebelatto, Taiane Francieli
; Freitas, Laura von Wallwitz
; Heck, Ana Paula
; Silva, Arthur Ferreira da
; Rodrigues, Matheus Füehr
; Gössling, Gustavo
; Giacomazzi, Juliana
; Rocha, Matheus Soares
; Rosa, Daniela Dornelles
; Barrios, Carlos Henrique
; Cronemberger, Eduardo Henrique
; Queiroz, Geraldo Silva
; Bines, José
; Simon, Sérgio Daniel
; Fay, Andre Poisl
.
Revista Brasileira de Ginecologia e Obstetrícia
- Métricas do periódico
Abstract Objective To analyze marital outcomes, divorce or separation, and its association with demographic, socioeconomic, and clinicopathological factors among breast cancer (BC) survivors after 2-years of diagnosis. Methods We performed a retrospective analysis of marital status at baseline and at years 1 and 2 of follow-up of women aged ≥ 18 years diagnosed with invasive BC participating in the AMAZONA III (GBECAM0115) study. The BC diagnosis occurred between January 2016 and March 2018 at 23 institutions in Brazil. Results Of the 2974 women enrolled in AMAZONA III, 599 were married or living under common law at baseline. Divorce or separation occurred in 35 (5.8%) patients at 2 years of follow-up. In the multivariate analysis, public health insurance coverage was associated with a higher risk of marital status change (8.25% vs. 2.79%, RR 3.09, 95% CI 1.39 - 7.03, p = 0.007). Women who underwent mastectomy, adenomastectomy or skin-sparing mastectomy were associated with a higher risk of divorce or separation (8.1% vs. 4.49%, RR 1.97, 95 CI 1.04 – 3.72, p = 0.0366) than those who underwent breast-conserving surgery. Conclusion Women covered by the public health system and those who underwent mastectomy, adenomastectomy or skin-sparing mastectomy were associated with a higher risk of divorce or separation. This evidence further supports the idea that long-term marital stability is associated with a complex interplay between socioeconomic conditions and stressors, such as BC diagnosis and treatment. ClinicalTrials Registration: NCT02663973. outcomes demographic (BC 2years followup follow up GBECAM0115 GBECAM (GBECAM0115 study 201 Brazil 297 59 3 5.8% 58 5 8 (5.8% followup. up. 8.25% 825 25 (8.25 vs 279 79 2.79% 309 09 3.09 139 39 1.3 703 7 03 7.03 0.007. 0007 0.007 . 0 007 0.007) skinsparing skin sparing 8.1% 81 (8.1 449 4 49 4.49% 197 97 1.97 9 104 04 1.0 372 72 3.72 0.0366 00366 0366 breastconserving conserving surgery longterm long term stressors treatment Registration NCT02663973 NCT GBECAM011 (GBECAM011 20 29 5.8 (5.8 8.25 82 (8.2 27 2.79 30 3.0 13 1. 70 7.0 000 0.00 00 8.1 (8. 44 4.49 19 1.9 10 37 3.7 0.036 0036 036 NCT0266397 GBECAM01 (GBECAM01 5. (5. 8.2 2.7 3. 7. 0.0 8. (8 4.4 0.03 003 NCT026639 GBECAM0 (GBECAM0 (5 2. 0. ( 4. NCT02663 (GBECAM NCT0266 NCT026 NCT02 NCT0
3.
Prevalence of rhinitis and associated factors in adolescents and adults: a Global Asthma Network study adults
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Urrutia-Pereira, Marilyn
; Mocelin, Lucas Pitrez
; Ellwood, Philippa
; Garcia-Marcos, Luis
; Simon, Laura
; Rinelli, Pietro
; Chong-Neto, Herberto José
; Solé, Dirceu
.
Abstract Objective: To determine the prevalence of allergic rhinitis and associated factors in adolescents and in their parents/guardians. Methods: A cross-sectional study, applying a standardized and validated written questionnaire. Adolescents (13–14 years old; n=1,058) and their parents/guardians (mean age=42.1 years old; n=896) living in the city of Uruguaiana, southern Brazil, responded to the Global Asthma Network standard questionnaires. Results: The prevalence of allergic rhinitis in adolescents was 28.0%, allergic rhinoconjunctivitis, 21.3%, and severe forms of allergic rhinitis, 7.8%. In the adults, the prevalence of allergic rhinitis was 31.7%. Some associated factors with allergic rhinitis in adolescents include low physical exercise (OR 2.16; 95%CI 1.15–4.05), having only one older sibling (OR 1.94; 95CI 1.01–3.72) and daily meat consumption (OR 7.43; 95% CI 1.53–36.11). In contrast, consuming sugar (OR 0.34; 95%CI 0.12–0.93) or olive oil (OR 0.33; 95%CI 0.13–0 .81) once or twice a week, and eating vegetables daily (OR 0.39; 95%CI 0.15–0.99) were considered factors negatively associated. In adults, exposure to fungi at home (OR 5.25; 95%CI 1.01–27.22) and consumption of meat once or twice a week (OR 46.45; 95CI 2.12–1020.71) were factors associated with the medical diagnosis of allergic rhinitis, while low education (OR 0.25; 95%CI 0.07–0.92) was found to be a factor negatively associated. Conclusions: The prevalence of allergic rhinitis in adolescents is high, as well as its medical diagnosis in adults living in Uruguaiana. Environmental factors, especially food habits, were associated with findings in both groups. Objective parentsguardians parents guardians Methods crosssectional cross sectional study questionnaire 13–14 1314 13 14 (13–1 old n=1,058 n1058 n 1 058 mean age421 age 42 age=42. n=896 n896 896 Uruguaiana Brazil questionnaires Results 280 28 0 28.0% rhinoconjunctivitis 213 21 3 21.3% 78 7 8 7.8% 317 31 31.7% OR 2.16 216 2 16 95 1.15–4.05, 115405 1.15–4.05 , 15 4 05 1.15–4.05) 1.94 194 94 1.01–3.72 101372 01 72 7.43 743 43 1.53–36.11. 1533611 1.53–36.11 . 53 36 11 1.53–36.11) contrast 0.34 034 34 0.12–0.93 012093 12 93 0.33 033 33 0130 0.13– .81 81 0.39 039 39 0.15–0.99 015099 99 5.25 525 5 25 1.01–27.22 1012722 27 22 46.45 4645 46 45 2.12–1020.71 212102071 1020 71 0.25 025 0.07–0.92 007092 07 92 Conclusions high habits groups 13–1 131 (13– n=1,05 n105 age42 age=42 n=89 n89 89 28.0 21.3 7.8 31.7 2.1 9 11540 1.15–4.0 1.9 19 1.01–3.7 10137 7.4 74 153361 1.53–36.1 0.3 03 0.12–0.9 01209 013 0.13 .8 0.15–0.9 01509 5.2 52 1.01–27.2 101272 46.4 464 2.12–1020.7 21210207 102 0.2 02 0.07–0.9 00709 13– (13 n=1,0 n10 age4 age=4 n=8 n8 28. 21. 7. 31. 2. 1154 1.15–4. 1. 1.01–3. 1013 15336 1.53–36. 0. 0.12–0. 0120 0.1 0.15–0. 0150 5. 1.01–27. 10127 46. 2.12–1020. 2121020 10 0.07–0. 0070 (1 n=1, n1 age= n= 115 1.15–4 1.01–3 101 1533 1.53–36 0.12–0 012 0.15–0 015 1.01–27 1012 2.12–1020 212102 0.07–0 007 ( n=1 1.15– 1.01– 153 1.53–3 0.12– 0.15– 1.01–2 2.12–102 21210 0.07– 00 1.15 1.01 1.53– 0.12 0.15 2.12–10 2121 0.07 1.1 1.0 1.53 2.12–1 212 0.0 1.5 2.12– 2.12
Resumo Objetivo: Determinar a prevalência de rinite alérgica e fatores associados em adolescentes e em seus pais/responsáveis. Métodos: Estudo transversal, com aplicação de questionário escrito padronizado e validado. Adolescentes (13–14 anos; n=1.058) e seus pais/responsáveis (média de idade=42,1 anos; n=896) residentes na cidade de Uruguaiana, Sul do Brasil, responderam aos questionários padrão da Global Asthma Network. Resultados: A prevalência de rinite alérgica em adolescentes foi de 28,0%, a de rinoconjuntivite alérgica foi de 21,3% e a de formas graves de rinite alérgica, de 7,8%. Nos adultos, a prevalência de rinite alérgica foi de 31,7%. Alguns fatores associados à rinite alérgica em adolescentes incluem fazer pouco exercício físico (odds ratio — OR 2,16; intervalo de confiança — IC95% 1,15–4,05), ter apenas um irmão mais velho (OR 1,94; IC95% 1,01–3,72) e consumir carne diariamente (OR 7,43; IC95% 1,53–36,11). Por outro lado, consumir açúcar (OR 0,34; IC5% 0,12–0,93) ou azeite de oliva (OR 0,33 IC95% 0,13–0,81) uma ou duas vezes por semana e comer vegetais diariamente (OR 0,39; IC95% 0,15–0,99) foram considerados fatores associados negativamente. Em adultos, a exposição a fungos no domicílio (OR 5,25; IC95% 1,01–27,22) e o consumo de carne uma ou duas vezes por semana (OR 46,45; IC95 2,12–1020,71) foram fatores associados ao diagnóstico médico de rinite alérgica, enquanto a baixa escolaridade (OR 0,25; IC95% 0,07–0,92) se mostrou como fator associado negativamente. Conclusões: A prevalência de rinite alérgica em adolescentes é alta, assim como seu diagnóstico médico em adultos residentes em Uruguaiana. Fatores ambientais, especialmente hábitos alimentares, foram associados aos achados em ambos os grupos. Objetivo paisresponsáveis pais responsáveis Métodos transversal validado 13–14 1314 13 14 (13–1 anos n=1.058 n1058 n 1 058 média idade421 idade 42 idade=42, n=896 n896 896 Uruguaiana Brasil Network Resultados 280 28 0 28,0% 213 21 3 21,3 78 7 8 7,8% 317 31 31,7% odds 2,16 216 2 16 IC 1,15–4,05, 115405 1,15–4,05 , 15 4 05 1,15–4,05) 1,94 194 94 1,01–3,72 101372 01 72 7,43 743 43 1,53–36,11. 1533611 1,53–36,11 . 53 36 11 1,53–36,11) lado 0,34 034 34 IC5 0,12–0,93 012093 12 93 033 33 0,3 0,13–0,81 013081 81 0,39 039 39 0,15–0,99 015099 99 negativamente 5,25 525 5 25 1,01–27,22 1012722 27 22 46,45 4645 46 45 IC9 2,12–1020,71 212102071 1020 71 0,25 025 0,07–0,92 007092 07 92 Conclusões alta ambientais alimentares grupos 13–1 131 (13– n=1.05 n105 idade42 idade=42 n=89 n89 89 28,0 21, 7,8 31,7 2,1 11540 1,15–4,0 1,9 19 9 1,01–3,7 10137 7,4 74 153361 1,53–36,1 03 0,12–0,9 01209 0, 0,13–0,8 01308 0,15–0,9 01509 5,2 52 1,01–27,2 101272 46,4 464 2,12–1020,7 21210207 102 0,2 02 0,07–0,9 00709 13– (13 n=1.0 n10 idade4 idade=4 n=8 n8 28, 7, 31, 2, 1154 1,15–4, 1, 1,01–3, 1013 15336 1,53–36, 0,12–0, 0120 0,13–0, 0130 0,15–0, 0150 5, 1,01–27, 10127 46, 2,12–1020, 2121020 10 0,07–0, 0070 (1 n=1. n1 idade= n= 115 1,15–4 1,01–3 101 1533 1,53–36 0,12–0 012 0,13–0 013 0,15–0 015 1,01–27 1012 2,12–1020 212102 0,07–0 007 ( n=1 1,15– 1,01– 153 1,53–3 0,12– 0,13– 0,15– 1,01–2 2,12–102 21210 0,07– 00 1,15 1,01 1,53– 0,12 0,13 0,15 2,12–10 2121 0,07 1,1 1,0 1,53 0,1 2,12–1 212 0,0 1,5 2,12– 2,12
4.
The validity and reliability of the CAMDEX-DS for assessing dementia in adults with Down syndrome in Brazil
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Fonseca, Luciana M.
; Haddad, Glenda G.
; Mattar, Guilherme P.
; Oliveira, Melaine C. de
; Simon, Sharon S.
; Guilhoto, Laura M.
; Busatto, Geraldo F.
; Zaman, Shahid
; Holland, Anthony J.
; Hoexter, Marcelo Q.
; Bottino, Cassio M.
.
Objective: Alzheimer’s disease occurs at a higher prevalence and an earlier age in individuals with Down syndrome (DS) than typically developing individuals. However, diagnosing dementia in individuals with intellectual disability remains a challenge due to pre-existing cognitive deficits. The aim of this study was to investigate the validity and reliability of the Brazilian version of the Cambridge Examination for Mental Disorders of Older People with Down’s syndrome and Others with Intellectual Disabilities (CAMDEX-DS) for individuals with DS. Methods: Two psychiatrists, working independently, evaluated 92 adults with DS ≥ 30 years of age. The concurrent validity of the CAMDEX-DS was analyzed in relation to the gold standard of established international criteria. In a subgroup of 20 subjects, the concurrent validity of the CAMDEX-DS was analyzed in relation to an independent objective assessment of cognitive decline over three years. We analyzed the inter-rater reliability of cognitive assessment. Results: The diagnostic accuracy of the CAMDEX-DS compared to the gold standard was 96.7%. CAMDEX-DS-based diagnosis was considered consistent with cognitive decline. The probability of a participant with dementia having cognitive decline was 83%. Inter-rater reliability for the participant assessment was good, with a kappa of > 0.8 for 93% of the CAMDEX-DS items. Conclusion: The CAMDEX-DS can be considered the first valid and reliable instrument for evaluating dementia in adults with DS in Brazil. Its use in such individuals could improve clinical practice and research.
https://doi.org/10.1590/1516-4446-2018-0033
1639 downloads
5.
Conocimiento de médicos de atención primaria sobre Rinitis Alérgica y su Impacto en el Asma (ARIA): estudio piloto comparativo Brasil, Paraguay, Uruguay
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Urrutia-Pereira, Marilyn
; Fernández, Carmen
; Valentin-Rostan, Marylin
; Cruz, Álvaro
; Torres, Odete
; Simon, Laura
; Nunes-Rinelli, Pietro
; Solé, Dirceu
.
Abstract Background: Allergic Rhinitis and its Impact on Asthma (ARIA) establishes guidelines for the treatment of allergic rhinitis (AR) and its comorbidities. Objective: To assess and compare the level of knowledge about AR and ARIA guidelines among primary care physicians (PCP) of Brazil, Paraguay and Uruguay. Methods: 336 PCPs (Brazil 109, Paraguay 127, Uruguay 100) answered a questionnaire about personal and professional data and knowledge on RA and the ARIA guidelines; the Google Forms tool was used. Results: There was a predominance of females (73, 50.4 and 70 % in Brazil, Paraguay and Uruguay, respectively); 124 worked in the community and 75 in emergency departments. Brazil and Uruguay PCPs recognized AR symptoms; 67 % of those from Uruguay did not ask about a history of AR diagnosis, 93 % about an asthma diagnosis and 90 % about rhinitis interference with daily activities. Intranasal corticosteroids use: 78, 92 and 54 % of Brazilian, Paraguayan and Uruguayan doctors; 100, 73.4 and 78 % of Paraguayan, Brazilian and Uruguayan PCPs, respectively, did not refer the patient to a specialist; 26.6, 62 and 6 % of PCPs in Brazil, Paraguay and Uruguay, respectively, knew the ARIA guidelines. Conclusions: AR is commonly looked after by PCPs, but the recognition of symptoms and knowledge about ARIA guidelines are low and treatment is not always optimal.
Resumen Antecedentes: En ARIA se establecen directrices para el tratamiento de la rinitis alérgica y sus comorbilidades. Objetivo: Evaluar y comparar el nivel de conocimiento sobre rinitis alérgica y la guía ARIA en médicos de atención primaria (MAP) de Brasil, Paraguay y Uruguay. Métodos: 336 MAP (Brasil 109, Paraguay 127, Uruguay 100) respondieron un cuestionario sobre datos personales, profesionales y conocimiento en rinitis alérgica y ARIA; se utilizó Google Forms. Resultados: Predominaron las mujeres (73, 50.4 y 70 % en Brasil Paraguay Uruguay); 124 trabajaban en la comunidad y 75 en servicios de urgencias. Los MAP de Brasil y Uruguay reconocieron los síntomas de rinitis alérgica; 67 % de Uruguay no preguntaba sobre antecedentes de diagnóstico de rinitis alérgica, 93 % sobre diagnóstico de asma y 90 % sobre la interferencia de la rinitis con las actividades diarias. Uso de corticosteroides intranasales: 78, 92 y 54 % de los médicos de Brasil Paraguay y Uruguay; 100, 73.4 y 78 % de Paraguay, Brasil y Uruguay no derivaban el paciente al especialista; 26.6, 62 y 6 % de Brasil, Paraguay y Uruguay conocían ARIA. Conclusiones: La rinitis alérgica frecuentemente es atendida por el MAP, pero el reconocimiento de los síntomas y el conocimiento sobre ARIA son reducidos y el tratamiento no siempre es óptimo.
https://doi.org/10.29262/ram.v65i4.525
1001 downloads
6.
The association between adult-type hypolactasia and symptoms of functional dyspepsia
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Wortmann, André Castagna
; Simon, Daniel
; Mazzoleni, Luiz Edmundo
; Sander, Guilherme Becker
; Francesconi, Carlos Fernando de Magalhães
; Nabinger, Débora Dreher
; Grott, Camila Schultz
; Rech, Tássia Flores
; Mazzoleni, Felipe
; Lunge, Vagner Ricardo
; Bona, Laura Renata de
; Milbradt, Tobias Cancian
; Silveira, Themis Reverbel da
.
Abstract Functional dyspepsia and lactose intolerance (adult-type hypolactasia, ATH) are common conditions that may coexist or even be confounded. Their clinical presentation can be similar, however, lactose intolerance does not form part of the diagnostic investigation of functional dyspepsia. Studies on the association between functional dyspepsia and ATH are scarce. This study aimed to evaluate whether ATH is associated with symptoms of functional dyspepsia. Patients fulfilling the Rome III diagnostic criteria for functional dyspepsia underwent genetic testing for ATH. Dyspeptic symptoms were evaluated and scored according to a validated questionnaire. The diagnostic criteria for ATH was a CC genotype for the -13910C/T polymorphism, located upstream of the lactase gene. The mean scores for dyspeptic symptoms were compared between patients with ATH and those with lactase persistence. A total of 197 functional dyspeptic patients were included in the study. Mean age was 47.7 years and 82.7% patients were women. Eighty-eight patients (44.7%) had a diagnosis of ATH. Abdominal bloating scores were higher in ATH patients compared to the lactase persistent patients (P=0.014). The remaining dyspeptic symptom scores were not significantly different between the two groups. The study results demonstrate an association between ATH and bloating in patients with functional dyspepsia.
https://doi.org/10.1590/1678-4685-gmb-2017-0015
1119 downloads
7.
Subcutaneous implantable defibrillator: a therapeutic alternative for prevention of sudden cardiac death
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Rico-Mesa, Juan Simon
; Duque, Laura
; Díaz, Juan Carlos
; Velásquez, Jorge E
; Aristizábal, Julián
; Marín, Jorge
; Uribe, William
; Duque, Mauricio
.
Abstract: The transvenous implantable cardiac defibrillator (T-ICD) is currently considered the standard of care for prevention of sudden cardiac death in patients with structural cardiac disease or channelopathies. However, the use of these devices is associated with a significant increase of short and long-term complications, mostly related to intravascular leads. The subcutaneous implantable cardiac defibrillator (S-ICD) is a novel alternative for high-risk patients susceptible to intravascular lead complications, with a similar efficacy as T-ICD. Multiple ongoing clinical trials involving the S-ICD are expected to provide additional information about safety, use and benefits in the clinical setting.
Resumen: El desfibrilador cardiaco implantable transvenoso (DCI-T) se considera actualmente el tratamiento estándar para la prevención de la muerte súbita cardiaca en pacientes con enfermedad cardiaca estructural o canalopatías. Sin embargo, el uso de estos dispositivos se asocia con un aumento significativo de complicaciones a corto y largo plazo, principalmente relacionadas con derivaciones intravasculares. El desfibrilador cardiaco implantable subcutáneo (DCI-S) es una alternativa novedosa para pacientes de alto riesgo susceptibles a complicaciones intravasculares, con una eficacia similar al DCI-T. Se espera que varios ensayos clínicos en curso que involucran al DCI-S brinden información adicional sobre seguridad, uso y beneficios en el entorno clínico.
291 downloads
8.
Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study
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Mattos, Beatriz Piva e
; Scolari, Fernando Luís
; Torres, Marco Antonio Rodrigues
; Simon, Laura
; Freitas, Valéria Centeno de
; Giugliani, Roberto
; Matte, Úrsula
.
Arquivos Brasileiros de Cardiologia
- Métricas do periódico
Resumo Fundamento: Mutações em genes do sarcômero são encontradas em 60-70% dos indivíduos com formas familiares de cardiomiopatia hipertrófica. (CMH). Entretanto, essa estimativa refere-se a populações de países do hemisfério norte. O perfil genético-molecular da CMH foi tema de poucos estudos no Brasil, particularmente na região sul do país. Objetivo: Realizar a pesquisa de mutações dos genes sarcoméricos MYH7, MYBPC3 e TNNT2 numa coorte de CMH estabelecida no extremo sul do Brasil, assim como avaliar as associações genótipo-fenótipo. Métodos: Sequenciamento direto do DNA de todas as regiões codificantes dos três genes sarcoméricos foi realizada em 43 indivíduos consecutivos de dez famílias não-relacionadas. Resultados: Mutações para CMH foram encontradas em 25 (58%) indivíduos de sete (70%) das dez famílias estudadas, sendo 14 (56%) deles fenótipo-positivos. Todas as mutações eram missense, quatro (66%) no gene MYH7 e duas (33%) no gene MYBPC3. Não foram encontradas mutações no gene TNNT2. Mutações em MYH7 foram identificadas em 20 (47%) indivíduos de seis (60%) famílias. Duas delas não haviam sido previamente relatadas. Mutações de MYBPC3 foram detectadas em sete (16%) membros de duas (20%) famílias. Dois (5%) indivíduos apresentaram dupla heterozigose com mutações em ambos os genes. As mutações acometeram distintos domínios das proteínas codificadas e produziram expressão fenotípica variável. História familiar de CMH foi identificada em todos os indivíduos genótipo-positivos. Conclusões: Nessa primeira análise genético-molecular da CMH realizada no sul do Brasil, foram encontradas mutações nos genes sarcoméricos MYH7 e MYBPC3 em 58% dos indivíduos. Doença relacionada ao gene MYH7 foi identificada na maioria dos casos com mutação.
Abstract Background: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country. Objective: To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-phenotype associations. Methods: Direct DNA sequencing of all encoding regions of three sarcomeric genes was conducted in 43 consecutive individuals of ten unrelated families. Results: Mutations for CMH have been found in 25 (58%) patients of seven (70%) of the ten study families. Fourteen (56%) individuals were phenotype-positive. All mutations were missense, four (66%) in MYH7 and two (33%) in MYBPC3. We have not found mutations in the TNNT2 gene. Mutations in MYH7 were identified in 20 (47%) patients of six (60%) families. Two of them had not been previously described. Mutations in MYBPC3 were found in seven (16%) members of two (20%) families. Two (5%) patients showed double heterozygosis for both genes. The mutations affected different domains of encoded proteins and led to variable phenotypic expression. A family history of HCM was identified in all genotype-positive individuals. Conclusions: In this first genetic-molecular analysis carried out in the south of Brazil, we found mutations in the sarcomeric genes MYH7 and MYBPC3 in 58% of individuals. MYH7-related disease was identified in the majority of cases with mutation.
https://doi.org/10.5935/abc.20160133
2842 downloads
9.
The influence of patients' complexity and general practitioners' characteristics on referrals to outpatient health services in an Italian region
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Valent, Francesca
; Deroma, Laura
; Franzo, Antonella
; Gobbato, Michele
; Simon, Giorgio
; Canciani, Luigi
; Zanier, Loris
.
Annali dell'Istituto Superiore di Sanità
- Métricas do periódico
BACKGROUND. Patient referrals to outpatient health services may affect both health outcomes and health expenditures. General practitioners (GP) have a crucial role in driving the use of outpatient services and recognizing factors which affect referrals is important for health managers and planners. OBJECTIVES. We investigated patient- and physician-related determinants of patient referrals in an Italian region. METHODS. This was cross-sectional study based on the individual linkage of administrative databases from the health information system of the Friuli Venezia Giulia region. For each GP of the region, the association of the number of patient referrals to different types of outpatient services with the proportion of patients with chronic conditions, with the number of hospital admissions and drug prescriptions in 2012, and with GP's characteristics was investigated through multilevel multivariable Poisson regression models. RESULTS. Some chronic conditions (e.g., cancer, autoimmune diseases, endocrine diseases, digestive system diseases) were positively associated with the number of referrals, as were hospital admissions and drug prescriptions. Time since GP's graduation was inversely related with referrals. CONCLUSION. Patient complexity and GP's experience affect referral rates. These factors should be considered in case of a reorganization of the general practice structure in Friuli Venezia Giulia.
https://doi.org/10.4415/ANN_15_03_09
696 downloads
10.
Utilização de preservativo masculino entre adolescentes de escolas públicas na cidade de Uberaba (MG), Brasil: conhecimentos e atitudes
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Valim, Edna Maria Alves
; Dias, Flavia Aparecida
; Simon, Cristiane Paulin
; Almeida, Débora Vieira de
; Rodrigues, Maria Laura Pinto
.
OBJETIVO: O presente estudo objetivou identificar conhecimentos sobre DST, atitudes autorreferidas por adolescentes relacionadas à prática sexual e verificar fatores associados a não utilização de preservativo masculino. MÉTODOS: Estudo transversal realizado com 1.820 adolescentes de escolas públicas da cidade de Uberaba (MG), nos anos de 2005 e 2006. RESULTADOS: A maioria dos adolescentes era do sexo masculino, conversavam sobre sexo, referiram não ter apresentado DSTs, consideravam que o preservativo masculino evitava DSTs e informaram utilizar preservativo. Fatores relacionados ao não uso do preservativo foram ser do sexo feminino, acreditar que o preservativo não evita DST, ser inconveniente e ter parceiro fixo. CONCLUSÃO: Os resultados indicam que a maioria dos adolescentes possui informações suficientes sobre DST e adotam comportamentos responsáveis em relação a sua saúde e a do parceiro, porém é fundamental adotar ações continuadas para todos perceberem a importância da prevenção.
OBJECTIVE: This study aimed to identify knowledge about STDs, self-reported attitudes of adolescents related to sexual practices and identify factors associated with the no use of condoms. METHODS: Crosssectional study with 1,820 adolescents attending public schools of Uberaba (MG) city, in 2005 and 2006. RESULTS: Most of the students were male, talk about sex, reported not having STDs, considered that the male condom avoid STDs and reported using condoms. Factors related to no use of condom were being female, believe that the condom does not prevent STDs, be inconvenient and have a steady partner. CONCLUSION: The results indicate that most teenagers have enough information about STDs and adopt responsible behavior in relation to their health and theirs partner's, but to take continued actions are essentials for the prevention importance to be perceived by all.
https://doi.org/10.1590/1414-462X201500010008
4249 downloads
11.
Growing knowledge: an overview of Seed Plant diversity in Brazil
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Zappi, Daniela C.
; Filardi, Fabiana L. Ranzato
; Leitman, Paula
; Souza, Vinícius C.
; Walter, Bruno M.T.
; Pirani, José R.
; Morim, Marli P.
; Queiroz, Luciano P.
; Cavalcanti, Taciana B.
; Mansano, Vidal F.
; Forzza, Rafaela C.
; Abreu, Maria C.
; Acevedo-Rodríguez, Pedro
; Agra, Maria F.
; Almeida Jr., Eduardo B.
; Almeida, Gracineide S.S.
; Almeida, Rafael F.
; Alves, Flávio M.
; Alves, Marccus
; Alves-Araujo, Anderson
; Amaral, Maria C.E.
; Amorim, André M.
; Amorim, Bruno
; Andrade, Ivanilza M.
; Andreata, Regina H.P.
; Andrino, Caroline O.
; Anunciação, Elisete A.
; Aona, Lidyanne Y.S.
; Aranguren, Yani
; Aranha Filho, João L.M.
; Araújo, Andrea O.
; Araújo, Ariclenes A.M.
; Araújo, Diogo
; Arbo, María M.
; Assis, Leandro
; Assis, Marta C.
; Assunção, Vivian A.
; Athiê-Souza, Sarah M.
; Azevedo, Cecilia O.
; Baitello, João B.
; Barberena, Felipe F.V.A.
; Barbosa, Maria R.V.
; Barros, Fábio
; Barros, Lucas A.V.
; Barros, Michel J.F.
; Baumgratz, José F.A.
; Bernacci, Luis C.
; Berry, Paul E.
; Bigio, Narcísio C.
; Biral, Leonardo
; Bittrich, Volker
; Borges, Rafael A.X.
; Bortoluzzi, Roseli L.C.
; Bove, Cláudia P.
; Bovini, Massimo G.
; Braga, João M.A.
; Braz, Denise M.
; Bringel Jr., João B.A.
; Bruniera, Carla P.
; Buturi, Camila V.
; Cabral, Elza
; Cabral, Fernanda N.
; Caddah, Mayara K.
; Caires, Claudenir S.
; Calazans, Luana S.B.
; Calió, Maria F.
; Camargo, Rodrigo A.
; Campbell, Lisa
; Canto-Dorow, Thais S.
; Carauta, Jorge P.P.
; Cardiel, José M.
; Cardoso, Domingos B.O.S.
; Cardoso, Leandro J.T.
; Carneiro, Camila R.
; Carneiro, Cláudia E.
; Carneiro-Torres, Daniela S.
; Carrijo, Tatiana T.
; Caruzo, Maria B.R.
; Carvalho, Maria L.S.
; Carvalho-Silva, Micheline
; Castello, Ana C.D.
; Cavalheiro, Larissa
; Cervi, Armando C.
; Chacon, Roberta G.
; Chautems, Alain
; Chiavegatto, Berenice
; Chukr, Nádia S.
; Coelho, Alexa A.O.P.
; Coelho, Marcus A.N.
; Coelho, Rubens L.G.
; Cordeiro, Inês
; Cordula, Elizabeth
; Cornejo, Xavier
; Côrtes, Ana L.A.
; Costa, Andrea F.
; Costa, Fabiane N.
; Costa, Jorge A.S.
; Costa, Leila C.
; Costa-e-Silva, Maria B.
; Costa-Lima, James L.
; Cota, Maria R.C.
; Couto, Ricardo S.
; Daly, Douglas C.
; De Stefano, Rodrigo D.
; De Toni, Karen
; Dematteis, Massimiliano
; Dettke, Greta A.
; Di Maio, Fernando R.
; Dórea, Marcos C.
; Duarte, Marília C.
; Dutilh, Julie H.A.
; Dutra, Valquíria F.
; Echternacht, Lívia
; Eggers, Lilian
; Esteves, Gerleni
; Ezcurra, Cecilia
; Falcão Junior, Marcus J.A.
; Feres, Fabíola
; Fernandes, José M.
; Ferreira, D.M.C.
; Ferreira, Fabrício M.
; Ferreira, Gabriel E.
; Ferreira, Priscila P.A.
; Ferreira, Silvana C.
; Ferrucci, Maria S.
; Fiaschi, Pedro
; Filgueiras, Tarciso S.
; Firens, Marcela
; Flores, Andreia S.
; Forero, Enrique
; Forster, Wellington
; Fortuna-Perez, Ana P.
; Fortunato, Reneé H.
; Fraga, Cléudio N.
; França, Flávio
; Francener, Augusto
; Freitas, Joelcio
; Freitas, Maria F.
; Fritsch, Peter W.
; Furtado, Samyra G.
; Gaglioti, André L.
; Garcia, Flávia C.P.
; Germano Filho, Pedro
; Giacomin, Leandro
; Gil, André S.B.
; Giulietti, Ana M.
; A.P.Godoy, Silvana
; Goldenberg, Renato
; Gomes da Costa, Géssica A.
; Gomes, Mário
; Gomes-Klein, Vera L.
; Gonçalves, Eduardo Gomes
; Graham, Shirley
; Groppo, Milton
; Guedes, Juliana S.
; Guimarães, Leonardo R.S.
; Guimarães, Paulo J.F.
; Guimarães, Elsie F.
; Gutierrez, Raul
; Harley, Raymond
; Hassemer, Gustavo
; Hattori, Eric K.O.
; Hefler, Sonia M.
; Heiden, Gustavo
; Henderson, Andrew
; Hensold, Nancy
; Hiepko, Paul
; Holanda, Ana S.S.
; Iganci, João R.V.
; Imig, Daniela C.
; Indriunas, Alexandre
; Jacques, Eliane L.
; Jardim, Jomar G.
; Kamer, Hiltje M.
; Kameyama, Cíntia
; Kinoshita, Luiza S.
; Kirizawa, Mizué
; Klitgaard, Bente B.
; Koch, Ingrid
; Koschnitzke, Cristiana
; Krauss, Nathália P.
; Kriebel, Ricardo
; Kuntz, Juliana
; Larocca, João
; Leal, Eduardo S.
; Lewis, Gwilym P.
; Lima, Carla T.
; Lima, Haroldo C.
; Lima, Itamar B.
; Lima, Laíce F.G.
; Lima, Laura C.P.
; Lima, Leticia R.
; Lima, Luís F.P.
; Lima, Rita B.
; Lírio, Elton J.
; Liro, Renata M.
; Lleras, Eduardo
; Lobão, Adriana
; Loeuille, Benoit
; Lohmann, Lúcia G.
; Loiola, Maria I.B.
; Lombardi, Julio A.
; Longhi-Wagner, Hilda M.
; Lopes, Rosana C.
; Lorencini, Tiago S.
; Louzada, Rafael B.
; Lovo, Juliana
; Lozano, Eduardo D.
; Lucas, Eve
; Ludtke, Raquel
; Luz, Christian L.
; Maas, Paul
; Machado, Anderson F.P.
; Macias, Leila
; Maciel, Jefferson R.
; Magenta, Mara A.G.
; Mamede, Maria C.H.
; Manoel, Evelin A.
; Marchioretto, Maria S.
; Marques, Juliana S.
; Marquete, Nilda
; Marquete, Ronaldo
; Martinelli, Gustavo
; Martins da Silva, Regina C.V.
; Martins, Ângela B.
; Martins, Erika R.
; Martins, Márcio L.L.
; Martins, Milena V.
; Martins, Renata C.
; Matias, Ligia Q.
; Maya-L., Carlos A.
; Mayo, Simon
; Mazine, Fiorella
; Medeiros, Debora
; Medeiros, Erika S.
; Medeiros, Herison
; Medeiros, João D.
; Meireles, José E.
; Mello-Silva, Renato
; Melo, Aline
; Melo, André L.
; Melo, Efigênia
; Melo, José I.M.
; Menezes, Cristine G.
; Menini Neto, Luiz
; Mentz, Lilian A.
; Mezzonato, A.C.
; Michelangeli, Fabián A.
; Milward-de-Azevedo, Michaele A.
; Miotto, Silvia T.S.
; Miranda, Vitor F.O.
; Mondin, Cláudio A.
; Monge, Marcelo
; Monteiro, Daniele
; Monteiro, Raquel F.
; Moraes, Marta D.
; Moraes, Pedro L.R.
; Mori, Scott A.
; Mota, Aline C.
; Mota, Nara F.O.
; Moura, Tania M.
; Mulgura, Maria
; Nakajima, Jimi N.
; Nardy, Camila
; Nascimento Júnior, José E.
; Noblick, Larry
; Nunes, Teonildes S.
; O'Leary, Nataly
; Oliveira, Arline S.
; Oliveira, Caetano T.
; Oliveira, Juliana A.
; Oliveira, Luciana S.D.
; Oliveira, Maria L.A.A.
; Oliveira, Regina C.
; Oliveira, Renata S.
; Oliveira, Reyjane P.
; Paixão-Souza, Bruno
; Parra, Lara R.
; Pasini, Eduardo
; Pastore, José F.B.
; Pastore, Mayara
; Paula-Souza, Juliana
; Pederneiras, Leandro C.
; Peixoto, Ariane L.
; Pelissari, Gisela
; Pellegrini, Marco O.O.
; Pennington, Toby
; Perdiz, Ricardo O.
; Pereira, Anna C.M.
; Pereira, Maria S.
; Pereira, Rodrigo A.S.
; Pessoa, Clenia
; Pessoa, Edlley M.
; Pessoa, Maria C.R.
; Pinto, Luiz J.S.
; Pinto, Rafael B.
; Pontes, Tiago A.
; Prance, Ghillean T.
; Proença, Carolyn
; Profice, Sheila R.
; Pscheidt, Allan C.
; Queiroz, George A.
; Queiroz, Rubens T.
; Quinet, Alexandre
; Rainer, Heimo
; Ramos, Eliana
; Rando, Juliana G.
; Rapini, Alessandro
; Reginato, Marcelo
; Reis, Ilka P.
; Reis, Priscila A.
; Ribeiro, André R.O.
; Ribeiro, José E.L.S.
; Riina, Ricarda
; Ritter, Mara R.
; Rivadavia, Fernando
; Rocha, Antônio E.S.
; Rocha, Maria J.R.
; Rodrigues, Izabella M.C.
; Rodrigues, Karina F.
; Rodrigues, Rodrigo S.
; Rodrigues, Rodrigo S.
; Rodrigues, Vinícius T.
; Rodrigues, William
; Romaniuc Neto, Sérgio
; Romão, Gerson O.
; Romero, Rosana
; Roque, Nádia
; Rosa, Patrícia
; Rossi, Lúcia
; Sá, Cyl F.C.
; Saavedra, Mariana M.
; Saka, Mariana
; Sakuragui, Cássia M.
; Salas, Roberto M.
; Sales, Margareth F.
; Salimena, Fatima R.G.
; Sampaio, Daniela
; Sancho, Gisela
; Sano, Paulo T.
; Santos, Alessandra
; Santos, Élide P.
; Santos, Juliana S.
; Santos, Marianna R.
; Santos-Gonçalves, Ana P.
; Santos-Silva, Fernanda
; São-Mateus, Wallace
; Saraiva, Deisy P.
; Saridakis, Dennis P.
; Sartori, Ângela L.B.
; Scalon, Viviane R.
; Schneider, Ângelo
; Sebastiani, Renata
; Secco, Ricardo S.
; Senna, Luisa
; Senna-Valle, Luci
; Shirasuna, Regina T.
; Silva Filho, Pedro J.S.
; Silva, Anádria S.
; Silva, Christian
; Silva, Genilson A.R.
; Silva, Gisele O.
; Silva, Márcia C.R.
; Silva, Marcos J.
; Silva, Marcos J.
; Silva, Otávio L.M.
; Silva, Rafaela A.P.
; Silva, Saura R.
; Silva, Tania R.S.
; Silva-Gonçalves, Kelly C.
; Silva-Luz, Cíntia L.
; Simão-Bianchini, Rosângela
; Simões, André O.
; Simpson, Beryl
; Siniscalchi, Carolina M.
; Siqueira Filho, José A.
; Siqueira, Carlos E.
; Siqueira, Josafá C.
; Smith, Nathan P.
; Snak, Cristiane
; Soares Neto, Raimundo L.
; Soares, Kelen P.
; Soares, Marcos V.B.
; Soares, Maria L.
; Soares, Polyana N.
; Sobral, Marcos
; Sodré, Rodolfo C.
; Somner, Genise V.
; Sothers, Cynthia A.
; Sousa, Danilo J.L.
; Souza, Elnatan B.
; Souza, Élvia R.
; Souza, Marcelo
; Souza, Maria L.D.R.
; Souza-Buturi, Fátima O.
; Spina, Andréa P.
; Stapf, María N.S.
; Stefano, Marina V.
; Stehmann, João R.
; Steinmann, Victor
; Takeuchi, Cátia
; Taylor, Charlotte M.
; Taylor, Nigel P.
; Teles, Aristônio M.
; Temponi, Lívia G.
; Terra-Araujo, Mário H.
; Thode, Veronica
; Thomas, W.Wayt
; Tissot-Squalli, Mara L.
; Torke, Benjamin M.
; Torres, Roseli B.
; Tozzi, Ana M.G.A.
; Trad, Rafaela J.
; Trevisan, Rafael
; Trovó, Marcelo
; Valls, José F.M.
; Vaz, Angela M.S.F.
; Versieux, Leonardo
; Viana, Pedro L.
; Vianna Filho, Marcelo D.M.
; Vieira, Ana O.S.
; Vieira, Diego D.
; Vignoli-Silva, Márcia
; Vilar, Thaisa
; Vinhos, Franklin
; Wallnöfer, Bruno
; Wanderley, Maria G.L.
; Wasshausen, Dieter
; Watanabe, Maurício T.C.
; Weigend, Maximilian
; Welker, Cassiano A.D.
; Woodgyer, Elizabeth
; Xifreda, Cecilia C.
; Yamamoto, Kikyo
; Zanin, Ana
; Zenni, Rafael D.
; Zickel, Carmem S
.
Resumo Um levantamento atualizado das plantas com sementes e análises relevantes acerca desta biodiversidade são apresentados. Este trabalho se iniciou em 2010 com a publicação do Catálogo de Plantas e Fungos e, desde então vem sendo atualizado por mais de 430 especialistas trabalhando online. O Brasil abriga atualmente 32.086 espécies nativas de Angiospermas e 23 espécies nativas de Gimnospermas e estes novos dados mostram um aumento de 3% da riqueza em relação a 2010. A Amazônia é o Domínio Fitogeográfico com o maior número de espécies de Gimnospermas, enquanto que a Floresta Atlântica possui a maior riqueza de Angiospermas. Houve um crescimento considerável no número de espécies e nas taxas de endemismo para a maioria dos Domínios (Caatinga, Cerrado, Floresta Atlântica, Pampa e Pantanal), com exceção da Amazônia que apresentou uma diminuição de 2,5% de endemicidade. Entretanto, a maior parte das plantas com sementes que ocorrem no Brasil (57,4%) é endêmica deste território. A proporção de formas de vida varia de acordo com os diferentes Domínios: árvores são mais expressivas na Amazônia e Floresta Atlântica do que nos outros biomas, ervas são dominantes no Pampa e as lianas apresentam riqueza expressiva na Amazônia, Floresta Atlântica e Pantanal. Este trabalho não só quantifica a biodiversidade brasileira, mas também indica as lacunas de conhecimento e o desafio a ser enfrentado para a conservação desta flora.
Abstract An updated inventory of Brazilian seed plants is presented and offers important insights into the country's biodiversity. This work started in 2010, with the publication of the Plants and Fungi Catalogue, and has been updated since by more than 430 specialists working online. Brazil is home to 32,086 native Angiosperms and 23 native Gymnosperms, showing an increase of 3% in its species richness in relation to 2010. The Amazon Rainforest is the richest Brazilian biome for Gymnosperms, while the Atlantic Rainforest is the richest one for Angiosperms. There was a considerable increment in the number of species and endemism rates for biomes, except for the Amazon that showed a decrease of 2.5% of recorded endemics. However, well over half of Brazillian seed plant species (57.4%) is endemic to this territory. The proportion of life-forms varies among different biomes: trees are more expressive in the Amazon and Atlantic Rainforest biomes while herbs predominate in the Pampa, and lianas are more expressive in the Amazon, Atlantic Rainforest, and Pantanal. This compilation serves not only to quantify Brazilian biodiversity, but also to highlight areas where there information is lacking and to provide a framework for the challenge faced in conserving Brazil's unique and diverse flora.
https://doi.org/10.1590/2175-7860201566411
33340 downloads
12.
Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis
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Dal'Maso, Vinícius Buaes
; Mallmann, Lucas
; Siebert, Marina
; Simon, Laura
; Saraiva-Pereira, Maria Luiza
; Dalcin, Paulo de Tarso Roth
.
OBJETIVO: Avaliar a contribuição da análise molecular do gene cystic fibrosis transmembrane conductance regulator (CFTR, regulador da condutância transmembrana na fibrose cística) na investigação diagnóstica da fibrose cística em pacientes com suspeita de fibrose cística (FC) leve ou atípica. MÉTODOS: Estudo transversal em adolescentes e adultos (idade ≥ 14 anos). Os voluntários foram submetidos à avaliação clínica, laboratorial e radiológica; espirometria, microbiologia do escarro, ecografia hepática, teste do suor e análise molecular do gene CFTR. Compararam-se as características dos pacientes divididos em três grupos, segundo o número de mutações identificadas (duas ou mais, uma e nenhuma). RESULTADOS: Foram avaliados 37 pacientes com achados fenotípicos de FC, com ou sem confirmação pelo teste do suor. Houve predomínio do sexo feminino (75,7%), e a média de idade dos participantes foi de 32,5 ± 13,6 anos. A análise molecular contribuiu para o diagnóstico de FC em 3 casos (8,1%), todos esses com pelo menos duas mutações. Houve a identificação de uma e nenhuma mutação, respectivamente, em 7 (18,9%) e 26 pacientes (70,3%). Nenhuma característica clínica estudada se associou com o diagnóstico genético. A mutação p.F508del foi a mais comum, encontrada em 5 pacientes. A associação de p.V232D e p.F508del foi encontrada em 2 pacientes. Outras mutações encontradas foram p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H e p.T351S. CONCLUSÕES: A análise molecular da região codificadora do gene CFTR apresentou uma contribuição limitada para a investigação diagnóstica desses pacientes com suspeita de FC leve ou atípica. Além disso, não houve associações entre as características clínicas e o diagnóstico genético.
OBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional study involving adolescents and adults aged ≥ 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics. RESULTS: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S. CONCLUSIONS: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.
https://doi.org/10.1590/S1806-37132013000200009
1171 downloads
13.
Relation between intima-media thickness and bone mineral density in postmenopausal women: a cross-sectional study
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Fodor, Daniela
; Bondor, Cosmina
; Albu, Adriana
; Muntean, Laura
; Simon, Siao-pin
; Poanta, Laura
; Craciun, Alexandra
.
CONTEXT AND OBJECTIVES: Controversy exists regarding the relationship between atherosclerosis and osteoporosis. The aim of this study was to determine the relationship between intima-media thickness (IMT) of the common carotid artery (CCA), presence of calcified atherosclerotic plaques and bone mineral density (BMD) evaluated by dual energy X-ray absorptiometry (DXA), in postmenopausal women. DESIGN AND SETTING: Cross-sectional study at Second Internal Medicine Clinic, Cluj-Napoca, Romania. METHODS: We studied the IMT (left and right CCA and mean IMT) and T-score (lumbar spine L2-L4, femoral neck and total hip) in 100 postmenopausal women (mean age 64.5 years). The presence of calcified atherosclerotic plaque and osteoporotic vertebral fractures was also noted. RESULTS: IMT in the left and right CCA and mean IMT were significantly associated with T-score measured for the lumbar spine L2-L4, femoral neck and total hip, with lower T-score, in the osteoporotic group than in the normal and osteopenic groups (P < 0.05). IMT had a significantly negative correlation with the lumbar spine T-score and femoral neck T-score; and mean IMT with lowest T-score. Mean IMT (P < 0.001), high blood pressure (P = 0.005) and osteoporotic vertebral fractures (P = 0.048) showed statistical significance regarding the likelihood of developing atherosclerotic plaque. CONCLUSIONS: In women referred for routine osteoporosis screening, the relationship between CCA, atherosclerosis and osteoporosis can be demonstrated using either cortical or trabecular BMD. Vertebral fractures may be considered to be a likelihood factor for atherosclerotic plaque development.
CONTEXTO Y OBJETIVOS: Hay controversias en cuanto a la relación entre la arterioesclerosis y la osteoporosis. El objetivo del estudio fue determinar la relación entre el espesor mío-intimal (EMI) de la arteria carótida común (ACC), la presencia de placas arterioescleróticas calcificadas, y la densidad mineral ósea (DMO) evaluada a través de absorciometría de rayos X de energía dual (DEXA) en mujeres posmenopáusicas. DISEÑO Y ENTORNO: Estudio transversal en la Segunda Clínica de Medicina Interna, Cluj-Napoca, Rumania. MÉTODOS: Hemos estudiado el EMI (ACC izquierda y derecha y EMI promedio) y el T-score (espina lumbar L2-L4, cuello femoral y cadera total) en 100 mujeres posmenopáusicas (edad promedia 64.5 años). Se ha observado también la presencia de las placas arterioescleróticas calcificadas y de la fractura vertebral osteoporótica. RESULTADOS: El EMI en ACC izquierda y derecha, como también el EMI promedio se ha asociado sobre todo con el T-score medido en la espina lumbar L2-L4, cuello femoral y cadera total o el valor más bajo del T-score, en el grupo osteoporótico, en comparación con el grupo normal y el osteopénico (P < 0.05). Se ha registrado una correlación significativamente negativa entre el EMI y el T-score de espina lumbar, el T-score del cuello femoral, y el EMI promedio con el T-score más bajo. El EMI promedio (P < 0.001), la alta presión (P = 0.005), y las fracturas vertebrales osteoporóticas (P = 0.048) demostraron tener una importancia estadística con respecto a la probabilidad de formación de placas arterioescleróticas. CONCLUSIONES: En el caso de las mujeres sometidas a screening rutinario para la osteoporosis, la relación entre ACC, arterioesclerosis y osteoporosis se puede demostrar utilizando sea la DMO cortical o trabecular. Las fracturas vertebrales se pueden considerar como un factor de probabilidad para el desarrollo de las placas arterioescleróticas.
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Citado 2 vezes em SciELO
14.
Impacts of climate change on indirect human exposure to pathogens and chemicals from agriculture
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Boxall, Alistair
; Hardy, Anthony
; Beulke, Sabine
; Boucard, Tatiana
; Burgin, Laura
; Falloon, Peter
; Haygarth, Philip
; Hutchinson, Thomas
; Kovats, Sari
; Leonardi, Giovanni
; Levy, Leonard
; Nichols, Gordon
; Parsons, Simon
; Potts, Laura
; Stone, David
; Topp, Edward
; Turley, David
; Walsh, Kerry
; Wellington, Elizabeth
; Williams, Richard
.
É provável que a mudança climática afete a natureza, destino e transporte de elementos patogênicos/químicos no ambiente . Avaliamos as implicações das mudanças climáticas em mudanças na exposição humana a elementos patogênicos/químicos nos sistemas agrícolas no Reino Unido e discutimos os efeitos sobre os impactos à saúde, usando a contribuição de especialistas e literatura; efeitos à saúde da exposição a elementos patogênicos/químicos provenientes da agricultura; introdução de elementos químicos/patogênicos e caminhos de exposição humana a elementos patogênicos/químicos nos sistemas agrícolas. Definimos a base de evidência para efeitos de saúde de elementos químicos/patogênicos no ambiente agrícola; determinamos as possíveis implicações da mudança climática na introdução de elementos químicos/patogênicos nos sistemas agrícolas; e exploramos os efeitos da mudança climática no transporte ambiental e destino de diversos contaminantes. Consolidamos dados para avaliar as implicações das mudanças climáticas em relação à exposição humana indireta a elementos patogênicos/químicos nos sistemas agrícolas e recomendamos futuras pesquisas e mudanças políticas para administrar aumentos adversos nos riscos.
Climate change is likely to affect the nature of pathogens/ chemicals in the environment and their fate and transport. We assess the implications of climate change for changes in human exposures to pathogens/chemicals in agricultural systems in the UK and discuss the effects on health impacts, using expert input and literature on climate change; health effects from exposure to pathogens/chemicals arising from agriculture; inputs of chemicals/pathogens to agricultural systems; and human exposure pathways for pathogens/chemicals in agricultural systems. We established the evidence base for health effects of chemicals/pathogens in the agricultural environment; determined the potential implications of climate change on chemical/pathogen inputs in agricultural systems; and explored the effects of climate change on environmental transport and fate of various contaminants. We merged data to assess the implications of climate change in terms of indirect human exposure to pathogens/chemicals in agricultural systems, and defined recommendations on future research and policy changes to manage adverse increases in risks.
4794 downloads
15.
Impacts of climate change on indirect human exposure to pathogens and chemicals from agriculture
Facebook Twitter
Facebook Twitter
- Outras redes sociais
- Google+
- StambleUpon
- CiteULike
- Mendeley
- Outras redes
- Métricas
Boxall, Alistair
; Hardy, Anthony
; Beulke, Sabine
; Boucard, Tatiana
; Burgin, Laura
; Falloon, Peter
; Haygarth, Philip
; Hutchinson, Thomas
; Kovats, Sari
; Leonardi, Giovanni
; Levy, Leonard
; Nichols, Gordon
; Parsons, Simon
; Potts, Laura
; Stone, David
; Topp, Edward
; Turley, David
; Walsh, Kerry
; Wellington, Elizabeth
; Williams, Richard
.
É provável que a mudança climática afete a natureza, destino e transporte de elementos patogênicos/químicos no ambiente . Avaliamos as implicações das mudanças climáticas em mudanças na exposição humana a elementos patogênicos/químicos nos sistemas agrícolas no Reino Unido e discutimos os efeitos sobre os impactos à saúde, usando a contribuição de especialistas e literatura; efeitos à saúde da exposição a elementos patogênicos/químicos provenientes da agricultura; introdução de elementos químicos/patogênicos e caminhos de exposição humana a elementos patogênicos/químicos nos sistemas agrícolas. Definimos a base de evidência para efeitos de saúde de elementos químicos/patogênicos no ambiente agrícola; determinamos as possíveis implicações da mudança climática na introdução de elementos químicos/patogênicos nos sistemas agrícolas; e exploramos os efeitos da mudança climática no transporte ambiental e destino de diversos contaminantes. Consolidamos dados para avaliar as implicações das mudanças climáticas em relação à exposição humana indireta a elementos patogênicos/químicos nos sistemas agrícolas e recomendamos futuras pesquisas e mudanças políticas para administrar aumentos adversos nos riscos.
Climate change is likely to affect the nature of pathogens/ chemicals in the environment and their fate and transport. We assess the implications of climate change for changes in human exposures to pathogens/chemicals in agricultural systems in the UK and discuss the effects on health impacts, using expert input and literature on climate change; health effects from exposure to pathogens/chemicals arising from agriculture; inputs of chemicals/pathogens to agricultural systems; and human exposure pathways for pathogens/chemicals in agricultural systems. We established the evidence base for health effects of chemicals/pathogens in the agricultural environment; determined the potential implications of climate change on chemical/pathogen inputs in agricultural systems; and explored the effects of climate change on environmental transport and fate of various contaminants. We merged data to assess the implications of climate change in terms of indirect human exposure to pathogens/chemicals in agricultural systems, and defined recommendations on future research and policy changes to manage adverse increases in risks.
1760 downloads
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