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INTRODUCTION AND IMPORTANCE: Seat belt syndrome (SBS) is a rare condition described as injuries sustained due to thoracic, abdominal, and pelvic compression in the context of traffic accidents. These injuries can range from minor skin abrasions to large lesions of internal organs and spinal cord involvement. Traumatic abdominal wall hernias (TAWH) are one of the injuries that can be associated. CASE PRESENTATION: A 21-year-old male suffered a severe injury, resulting in complete transection of all abdominal wall musculature due to SBS, with associated visceral injury. Emergency surgery included intestinal and sigmoid colon resection, along with cava vein repair. After a prolonged recovery, a second-stage surgery for abdominal wall reconstruction was planned. Prehabilitation involved botulinum toxin and pneumoperitoneum, with surgical planning utilizing CT scan and 3D reconstruction. The second-stage surgery included transversus abdominis release and placement of double mesh. CLINICAL DISCUSSION: Managing traumatic abdominal wall hernias in polytrauma patients necessitates emergent surgery for vital injuries, while reconstructive surgery timing is crucial, with patient preparation being essential. Surgical planning, including 3D reconstructions, enhances accuracy, and safety, with repair technique selection depending on anatomical features. Given our patient's athletic background and preoperative vascular CT findings, flapless reconstructive surgery was chosen to mitigate vascular risks. CONCLUSION: The therapeutic approach to traumatic abdominal wall injuries should be individualized to each patient, with a focus on addressing vital injuries first and considering abdominal wall reconstruction surgery at a subsequent stage. Utilizing CT scan with 3D reconstruction can be a valuable tool for preoperative planning in cases involving significant abdominal wall defects.
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INTRODUCTION: Bullfighting festivals are attributed to the cultural idiosyncrasies of the Ibero-American people, posing an extreme risk to the physical integrity of the participants. Spain is considered the country with the highest number of bull-related celebrations worldwide and, therefore, with the highest number of patients injured by bullfighting trauma treated, thus justifying a public health problem. The generalities associated with this type of trauma define the people injured as polytraumatised patients. In addition, it is important to know the kinematics of the injuries and their specific characteristics, in order to implement quality medical-surgical care. METHODS: scientific review of the literature to promote a comprehensive guide for the medical-surgical management of patients injured by bullfighting trauma. RESULTS: We described the guidelines to standardise protocols for in-hospital approach of patients injured by bullfighting trauma. CONCLUSIONS: Bullfighting trauma is considered a real health problem in the emergency departments of the ibero-Americans countries, especially in Spain, where bullfighting is part of the national culture. The inherent characteristics of these animals cause injuries with special aspects, so it is important to know the generalities of bullfighting trauma. Because of the multidisciplinary approach, this guidelines are adressed to all healthcare providers involved in the management of these patients. It is essential to establish particular initial care for this type of injury, specific therapeutic action and follow-up based on the medical-surgical management of the trauma patient in order to reduce the associated morbidity and mortality.
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AIM: To evaluate the prevalence of coronary artery calcification (CAC) on non-contrast computed tomography (CT) of the thorax in patients with interstitial lung disease (ILD), assess consistency of CAC reporting and assess incidence of subsequent cardiac events. MATERIALS AND METHODS: Patients with known interstitial lung disease who underwent a CT thorax over a 2-year period were retrospectively reviewed. Presence of CAC was assessed using a visual scale for CAC reporting and graded as mild, moderate, or severe by two cardiothoracic radiologists. CT reports were reviewed to determine if presence of CAC had been described. Electronic medical records were reviewed for any subsequent cardiothoracic events from the date of the CT thorax to present. RESULTS: 254 patients were included in the analysis (54.7% men; mean age 59.9 yo). 43.7% had CAC on their CT thorax; however, in 87.3% of those, reports did not comment on its presence. 8 patients had cardiac events; 7 of them had CAC on CT although only in 1 case this was reported. Global CAC and LAD CAC Patients with cardiac events had a significantly higher global CAC (p=0.016) and LAD CAC (p=0.048) when compared to patients without. CONCLUSION: We demonstrated a high prevalence of CAC in ILD patients and its significant association with adverse cardiac events. Unfortunately, CAC on CT thorax is still largely unreported. As per recent BSCI/BSCCT and BSTI guidelines, reporting of CAC should become part of routine practice, as may prompt prevention and impact on patients outcome.
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Doença da Artéria Coronariana , Doenças Pulmonares Intersticiais , Calcificação Vascular , Masculino , Humanos , Pessoa de Meia-Idade , Feminino , Estudos Retrospectivos , Vasos Coronários , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/epidemiologia , Doença da Artéria Coronariana/etiologia , Tomografia Computadorizada por Raios X/métodos , Tórax , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Doenças Pulmonares Intersticiais/epidemiologia , Doenças Pulmonares Intersticiais/complicações , Calcificação Vascular/complicações , Calcificação Vascular/diagnóstico por imagem , Calcificação Vascular/epidemiologia , Angiografia Coronária/métodos , Fatores de RiscoRESUMO
BACKGROUND: Bullfighting festivals are commonly performed at Spain. Perineal trauma due to bull-horn injury is associated with high morbidity due to sphincteric associated lesions METHODS: We report a case of 37-year-old male patient with anal trauma due to a bull-horn injury involving the sphincter complex, treated in our Emergency department RESULTS: Urgent surgery was performed with primary sphincteroplasty, without performing a colostomy. The associated complication was a partial dehiscence of the surgical wound (Clavien-Dindo I). No transfusions, re-interventions or readmissions were registered. The degree of incontinence at discharge and after 12 month follow-up, according to the Wexner scale was 8 points and 2 points, respectively. CONCLUSIONS: The main treatment of bull-horn injuries is extensive surgical debridement, antibiotic therapy, and lavage of the area. In cases involving the anal sphincter, primary sphincteroplasty is recommended. The modern trend does not include the systematic performance of a colostomy however, it has been described in cases with catastrophic wounds and urological lesions associated.
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Canal Anal , Adulto , Animais , Bovinos , Humanos , Masculino , Canal Anal/cirurgia , Canal Anal/lesõesRESUMO
INTRODUCTION AND OBJECTIVE: Patients present poor knowledge and skills about their respiratory disease and inhaler device. We aimed to: (1) evaluate COPD and asthmatic patients... ability to manage inhaled drugs (2) identify differences among devices and (3) correlate clinical data with patient ability. MATERIAL AND METHODS: Patients (n=134) admitted for pulmonary rehabilitation (PR) were given an ad-hoc questionnaire covering 0% as the worst and 100% the best value of global ability (indicating the sum of knowledge and skills in managing inhaled drugs) at baseline (T0) and discharge (T1). Educational program was provided during PR. Setting of rehabilitation, age, sex, diagnosis, spirometry, CIRS score, level of autonomy to use medications, if na..ve about PR, educational level, and number/type of prescribed inhaled drugs were recorded. RESULTS: Most patients used 1 drug while 37% used 2 drugs. DPIs were the main device prescribed. At baseline, patients... mean level of knowledge and skills were 73% and 58%, respectively. There was a significant difference in level of skills (p=0.046) among device families, DPIs resulting worst and pMDIs best. Global ability, skills and knowledge improved after educational support (p<0.001) but did not reach the optimal level, 88%, 87% and 89%, respectively. Baseline global ability was positively correlated to female gender, younger age, previous PR access, outpatient status, higher education level and GOLD D class. CONCLUSIONS: At hospital admission, global ability was not optimal. Education may improve this, irrespective of the type of device used, in particular in male, elderly, na..ve to PR, low educational level patients.
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Asma , Doença Pulmonar Obstrutiva Crônica , Transtornos Respiratórios , Humanos , Masculino , Feminino , Idoso , Projetos Piloto , Administração por Inalação , Nebulizadores e Vaporizadores , Asma/tratamento farmacológico , Asma/diagnósticoRESUMO
AIM: To evaluate the incidence of pulmonary ischaemia in COVID-19 patients on extracorporeal membrane oxygenation (ECMO), and its correlation with pulmonary artery thrombosis. MATERIALS AND METHODS: Computed tomography (CT) thorax of all patients receiving ECMO with proven COVID-19 pneumonitis between March and May 2020 were analysed for the presence and extension of pulmonary thromboembolic disease. RESULTS: Fifty-one patients were reviewed. The mean (range) age of 45 (26-66) years; 38/51 (74.5%) were men. All patients had severe COVID-19 pneumonitis, and 18/51 (35.3%) had macroscopic thrombosis (15 with associated ischaemia); however, 13/51 (25.5%) patients had ischaemia without associated thrombus. CONCLUSION: The majority of patients with COVID-19 who received ECMO had areas of ischaemia within consolidated lungs, almost half of these without subtending pulmonary artery thrombosis. Although the prognostic significance of these findings is unclear, they are highly suggestive of lung ischaemia due to isolated microvascular immune thrombosis.
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Betacoronavirus , Infecções por Coronavirus/complicações , Infecções por Coronavirus/terapia , Oxigenação por Membrana Extracorpórea/métodos , Pneumonia Viral/complicações , Pneumonia Viral/terapia , Embolia Pulmonar/complicações , Adulto , Idoso , COVID-19 , Estudos de Coortes , Infecções por Coronavirus/patologia , Feminino , Humanos , Pulmão/diagnóstico por imagem , Pulmão/patologia , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/patologia , Embolia Pulmonar/patologia , SARS-CoV-2 , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Wave intensity analysis (WIA) in the aorta offers important clinical and mechanistic insight into ventriculo-arterial coupling, but is difficult to measure non-invasively. We performed WIA by combining standard cardiovascular magnetic resonance (CMR) flow-velocity and non-invasive central blood pressure (cBP) waveforms. METHODS AND RESULTS: Two hundred and six healthy volunteers (age range 21-73 years, 47% male) underwent sequential phase contrast CMR (Siemens Aera 1.5 T, 1.97 × 1.77 mm2, 9.2 ms temporal resolution) and supra-systolic oscillometric cBP measurement (200 Hz). Velocity (U) and central pressure (P) waveforms were aligned using the waveform foot, and local wave speed was calculated both from the PU-loop (c) and the sum of squares method (cSS). These were compared with CMR transit time derived aortic arch pulse wave velocity (PWVtt). Associations were examined using multivariable regression. The peak intensity of the initial compression wave, backward compression wave, and forward decompression wave were 69.5 ± 28, -6.6 ± 4.2, and 6.2 ± 2.5 × 104 W/m2/cycle2, respectively; reflection index was 0.10 ± 0.06. PWVtt correlated with c or cSS (r = 0.60 and 0.68, respectively, P < 0.01 for both). Increasing age decade and female sex were independently associated with decreased forward compression wave (-8.6 and -20.7 W/m2/cycle2, respectively, P < 0.01) and greater wave reflection index (0.02 and 0.03, respectively, P < 0.001). CONCLUSION: This novel non-invasive technique permits straightforward measurement of wave intensity at scale. Local wave speed showed good agreement with PWVtt, and correlation was stronger using the cSS than the PU-loop. Ageing and female sex were associated with poorer ventriculo-arterial coupling in healthy individuals.
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Aorta , Análise de Onda de Pulso , Adulto , Idoso , Aorta/diagnóstico por imagem , Velocidade do Fluxo Sanguíneo , Pressão Sanguínea , Feminino , Humanos , Espectroscopia de Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Adulto JovemRESUMO
Pulmonary artery pseudoaneurysm is rare and may cause life-threatening haemoptysis. Coil or stent is the main treatment option. We present a case of intrapulmonary pseudoaneurysm located in the fissure between left upper and lower lobes surgically repaired due to the location and the broad base of the pseudoaneurysm.
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Falso Aneurisma/cirurgia , Artéria Pulmonar/cirurgia , Idoso , Proliferação de Células , Tosse , Feminino , Hemoptise/etiologia , Humanos , Processamento de Imagem Assistida por Computador , Imageamento Tridimensional , Radiografia Torácica , Stents/efeitos adversos , Tomografia Computadorizada por Raios X , Vasculite/cirurgiaRESUMO
BACKGROUND: Detecting unusual malaria events that may require an operational intervention is challenging, especially in endemic contexts with continuous transmission such as South Sudan. Médecins Sans Frontières (MSF) utilises the classic average plus standard deviation (AV+SD) method for malaria surveillance. This and other available approaches, however, rely on antecedent data, which are often missing. OBJECTIVE: To investigate whether a method using linear regression (LR) over only 8 weeks of retrospective data could be an alternative to AV+SD. DESIGN: In the absence of complete historical malaria data from South Sudan, data from weekly influenza reports from 19 Norwegian counties (2006-2015) were used as a testing data set to compare the performance of the LR and the AV+SD methods. The moving epidemic method was used as the gold standard. Subsequently, the LR method was applied in a case study on malaria occurrence in MSF facilities in South Sudan (2010-2016) to identify malaria events that required a MSF response. RESULTS: For the Norwegian influenza data, LR and AV+SD methods did not perform differently (P > 0.05). For the South Sudanese malaria data, the LR method identified historical periods when an operational response was mounted. CONCLUSION: The LR method seems a plausible alternative to the AV+SD method in situations where retrospective data are missing.
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Antituberculosos/administração & dosagem , Tuberculose Resistente a Múltiplos Medicamentos/tratamento farmacológico , Adolescente , Adulto , Idoso , Antituberculosos/efeitos adversos , Criança , Estudos de Coortes , Esquema de Medicação , Quimioterapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Programas Nacionais de Saúde , Níger , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
SETTING: The Democratic Republic of Congo suffers from an amalgam of disease outbreaks and other medical emergencies. An efficient response to these relies strongly on the national surveillance system. The Pool d'Urgence Congo (PUC, Congo Emergency Team) of Médecins Sans Frontières is a project that responds to emergencies in highly remote areas through short-term vertical interventions, during which it uses the opportunity of its presence to reinforce the local surveillance system. OBJECTIVE: To investigate whether the ancillary strengthening of the peripheral surveillance system during short-term interventions leads to improved disease notification. DESIGN: A descriptive paired study measuring disease notification before and after 12 PUC interventions in 2013-2014. RESULTS: A significant increase in disease notification was observed after seven mass-vaccination campaigns and was sustained over 6 months. For the remaining five smaller-scaled interventions, no significant effects were observed. CONCLUSION: The observed improvements after even short-term interventions underline, on the one hand, how external emergency actors can positively affect the system through their punctuated actions, and, on the other hand, the dire need for investment in surveillance at peripheral level.
Contexte : La République Démocratique du Congo souffre d'un amalgame de flambées épidémiques et d'autres urgences médicales. Une réponse efficace à ces problèmes est basée sur le système national de surveillance. Le Pool d'Urgence Congo (PUC) de Médecins Sans Frontières est un projet répondant aux urgences dans les zones très reculées grâce à des interventions verticales à court terme, pendant lesquelles le projet met à profit l'opportunité de sa présence pour renforcer le système de surveillance local.Objectif : Vérifier si le renforcement complémentaire du système de surveillance périphérique pendant des interventions à court terme amène une amélioration de la notification des maladies.Schéma : Une étude descriptive par paires mesurant la notification des maladies avant et après 12 interventions PUC en 20132014.Résultats : Une augmentation significative de la notification des maladies a été observée après sept campagnes de vaccination de masse et elle s'est maintenue pendant 6 mois. En ce qui concerne les cinq interventions restantes à plus petite échelle, aucun effet significatif n'a été observé.Conclusion : Les améliorations observées, même après des interventions à court terme, soulignent d'un côté comment des acteurs externes de l'urgence peuvent affecter positivement le système à travers leurs actions ponctuelles et, d'un autre côté, le besoin pressant d'investir dans la surveillance au niveau périphérique.
Marco de referencia: La República Democrática del Congo adolece de una amalgama de brotes epidémicos y otras urgencias médicas y la eficiencia de la respuesta a esta situación depende en gran medida del sistema nacional de vigilancia. El proyecto 'Pool d'Urgence Congo' (PUC, en francés) de Médecins Sans Frontières responde a las situaciones de urgencia en zonas muy remotas, mediante intervenciones verticales a corto plazo, durante las cuales se aprovecha la presencia en el terreno con el fin de reforzar el sistema local de vigilancia sanitaria.Objetivo: Investigar si el fortalecimiento complementario del sistema periférico de vigilancia sanitaria durante las intervenciones de corta duración contribuye a mejorar la notificación de las enfermedades.Método: Un estudio descriptivo emparejado, en el cual se midió la notificación de las enfermedades antes y después de 12 intervenciones del PUC del 2013 al 2014.Resultados: Se observó un aumento estadísticamente significativo de la notificación de las enfermedades después de siete campañas de vacunación colectiva, el cual se mantuvo durante 6 meses. En las cinco intervenciones restantes de menor escala no se observaron efectos considerables.Conclusión: El progreso observado incluso después de intervenciones a corto plazo, por una parte, pone de manifiesto que los actores externos en situaciones de emergencia pueden inducir modificaciones positivas del sistema mediante sus actividades puntuales y, en segundo lugar, destaca la necesidad urgente de invertir en el sistema de vigilancia sanitaria a nivel periférico.
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La odontología moderna está enfocada en el desarrollo de las normas de bioseguridad con el objetivo de detener la propagación de infecciones en los consultorios odontológicos. Existe un número cada vez mayor de pacientes susceptibles a los patógenos oportunistas del medio ambiente que proliferan en el agua de los sistemas dentales. La Asociación Dental Americana ha establecido que la carga bacteriana máxima aceptable en el agua de los equipos dentales utilizada para procedimientos no quirúrgicos es de 200 UFC/mL. Con el objetivo de determinar la eficacia del sistema de desinfección de mangueras de equipos odontológicos con hipoclorito de sodio al 0,25% se realizó un estudio experimental en el que fueron incluidas 20 unidades dentales pertenecientes a consultorios privados de la ciudad de Asunción, de febrero - abril del año 2011. Se tomaron muestra de agua de los ductos de 10 equipos que contaban con el sistema de desinfección de manguera (grupo de estudio) y 10 equipos que no contaban con dicho sistema, en lo que se utilizó arrastre mecánico de agua por treinta segundo (grupo control). Las muestras de agua fueron sometidas a análisis microbiológico. Se observó un promedio de reducción de niveles de microorganismos en el agua de los ductos de 48,3% en el grupo de estudio y de 47,1% en el grupo control. Aplicando la prueba exacta de Fischer se concluyo que no existe diferencia significativa en la reducción de UF/mL entre ambos grupos, por lo que se concluye que no existiendo un sistema ideal, es recomendable que en los equipos que no cuenten con un sistema de desinfección se realice la activación del flujo de agua por 30 segundos antes de iniciar y al finalizar la jornada y entre pacientes .
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Contenção de Riscos Biológicos , Equipamentos Odontológicos , Hipoclorito de Sódio , OdontologiaRESUMO
BACKGROUND: Schedules with anthracyclines and taxanes are one of the best options for primary chemotherapy. The addition of trastuzumab showed an impressive percentage of pathological complete responses in Buzdar trial (66.7%). Recently, nonpegylated liposome-encapsulated doxorubicin (NLD) has been widely used in advanced breast cancer with high response rates (98.1 % in Cortes study). The aims of our study were to assess pathological responses and toxicity of NLD plus paclitaxel (and trastuzumab in patients with HER2 overexpression). METHODS: Thirty patients entered the study: 9 locally advanced and 21 operable. Median age was 58.5 years (range: 31-73). 23 patients without HER2 overexpression (or FISH not amplified) were treated with NLD 50 mg/m2 every three weeks for 3 courses and weekly paclitaxel 80 mg/m2 for 8 courses. 7 patients with HER2 overexpression or FISH amplified were treated with the same schedules plus trastuzumab (Herceptin) 4 mg/kg for the first administration and 2 mg/kg for the following 7 weekly administrations. RESULTS: Pathological complete response (pCR) was documented in 1 patient (treated with trastuzumab); no residual tumor (infiltrating or "in situ") on breast was documented in other 2 patients. Objective clinical responses were documented in 22 patients (73.3%): 8 complete, 10 partial and 4 "minimal" responses. 7 patients have shown stable and 1 progressive disease. Clinical response in patients with HER2 overexpression treated with trastuzumab was 100% (4 complete and 3 partial responses). Conservative surgery was performed in 8 (38%) and mastectomy in 13 (62%) out of 21 operable patients; however, 7 out of 14 responding patients with operable disease underwent quadrantectomy (50%). Main toxicity was neutropenia: febrile in 2 patients (7%) and gr. 3-4 in 13 (43%). Other grade 3 toxicities were as follows: vomiting in 1 patient, asthenia in 1 patient, joint symptom in 1 patient. 3 patients were withdrawn from the study. No episodes of left ventricular ejection fraction (LVEF) < 50% were recorded (with a median reduction of 8%). CONCLUSIONS: A "short course" of paclitaxel and NLD is active in terms of clinical response and conservative surgery for patients with potentially operable and locally advanced breast cancer; toxicity was manageable. High activity of the combination with trastuzumab has been confirmed. However, with this "short course" schedule, the result in term of clinical responses didn't turn into complete pathological responses.
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Toxicologia , Toxicologia , Venenos , Intoxicação , Toxinas Biológicas , Toxicologia , Farmacologia , Biologia Celular , GenéticaRESUMO
BACKGROUND: Thiopurines are the most commonly used immunomodulatory drugs in inflammatory bowel diseases. AIM: To evaluate the use, the therapeutic and safety profiles of thiopurines in a large sample of IBD patients. METHODS: We reviewed 3641 case histories of IBD patients. Thiopurines were prescribed in 582 patients (16.0%); the analysis was performed on the 553 (267 ulcerative colitis, 286 Crohn's disease) with exhaustive clinical data. RESULTS: The main indications for treatment were steroid-dependence (328/553, 59.3%) and steroid-resistance (113/553, 20.7%). Thiopurines were started when CD were younger than UC patients (p<0.001) but earlier from diagnosis in UC than in CD patients (p=0.003). Efficacy was defined as optimal (258/553, 46.6%), partial (108/553, 19.5%), absent (85/553, 15.4%) and not assessable (102/553, 18.4%). Efficacy was independent of disease type, location/extension or duration and age at starting. Side effects were observed in 151/553 (27.3%) patients, leading to drug discontinuation in 101 (18.3%). 15 out of the 130 (11.5%) patients who took thiopurines for more than 4 years relapsed, more frequently in CD than in UC (OR=3.67 95% C.I. 0.98-13.69; p=0.053). CONCLUSIONS: Thiopurines confirm their clinical usefulness and acceptable safety profile in managing complicated IBD patients. The majority of patients treated for longer than 4 years maintain response. No clinical and demographic predictive factors for efficacy and side effects were identified.
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Azatioprina/uso terapêutico , Colite Ulcerativa/tratamento farmacológico , Doença de Crohn/tratamento farmacológico , Imunossupressores/uso terapêutico , Adulto , Uso de Medicamentos/estatística & dados numéricos , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
In the years 2000 and 2001, we sampled ticks in order to establish the distribution of Ixodes ricinus in the province of Belluno; 5987 tick samples from 244 sites throughout the province were gathered, by dragging for a 5-min period. In 40 sites, seasonal variations and cycle stages of the parasites were studied at monthly intervals from March to September. A polymerase chain reaction (PCR) technique was used to identify the tick-infected sites. Of 1931 individual ticks, 8.23% were positive for Borrelia burgdorferi, 4.4% were positive for Ehrlichia, 1.6% were positive for Rickettsia, and 1.6% were positive for Babesia. The co-presence of Borrelia and Ehrlichia (1.2%) and Babesia (0.5%), Borrelia, Ehrlichia and Rickettsia (0.1%) was also found.
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Vetores Aracnídeos/microbiologia , Vetores Aracnídeos/parasitologia , Ixodes/microbiologia , Ixodes/parasitologia , Doenças Transmitidas por Carrapatos/microbiologia , Doenças Transmitidas por Carrapatos/parasitologia , Anaplasma phagocytophilum/genética , Anaplasma phagocytophilum/isolamento & purificação , Animais , Babesia/genética , Babesia/isolamento & purificação , Borrelia burgdorferi/genética , Borrelia burgdorferi/isolamento & purificação , Primers do DNA/química , DNA Bacteriano/isolamento & purificação , DNA de Protozoário/isolamento & purificação , Feminino , Itália/epidemiologia , Masculino , Reação em Cadeia da Polimerase/métodos , Prevalência , Rickettsia/genética , Rickettsia/isolamento & purificação , Estações do Ano , Doenças Transmitidas por Carrapatos/epidemiologiaRESUMO
PURPOSE: To report a new family belonging to a previously non-investigated geographic are a with a rare form of lattice corneal dystrophy (LCD). METHODS: Detailed ophthalmologic analysis was carried out on a Bulgarian woman, enrolled for perforating keratoplasty. In order to obtain a final diagnosis both histology and genetic analysis were performed. RESULTS: Upon transplantation, histologic analysis of the dystrophic cornea revealed the typical staining pattern and amyloid deposits of lattice corneal dystrophies. Genetic analysis of the subject and her daughter confirmed the presence of an autosomal dominant R124C mutation within exon 4 of the BIGH3 gene, encoding for keratoepithelin, while showing no abnormalities in her son. CONCLUSIONS: The identification of this mutation allows the unambiguous classification of this corneal dystrophy as LCD type I. A first case of LCD I in a family from Eastern Europe could help to better clarify the molecular epidemiology of the disease.
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Distrofias Hereditárias da Córnea/genética , Proteínas da Matriz Extracelular/genética , Fator de Crescimento Transformador beta/genética , Adolescente , Adulto , Amiloide/metabolismo , Bulgária/epidemiologia , Distrofias Hereditárias da Córnea/etnologia , Distrofias Hereditárias da Córnea/metabolismo , Análise Mutacional de DNA , Éxons/genética , Feminino , Genes Dominantes , Humanos , Masculino , Epidemiologia Molecular , Linhagem , Mutação PuntualRESUMO
beta2-integrin subunit (CD18) plays an essential role in leukocyte recruitment and adhesion in sites of endothelial injury. We analyzed the surface expression of CD18 on T lymphocytes and monocytes in a series of patients presenting acute coronary syndrome (ACS) who underwent primary percutaneous intervention (PCI) for coronary artery revascularization. We found that basal CD18 expression on peripheral blood-derived CD4+ (but not CD8+) T lymphocytes was significantly increased in ACS patients as compared with age-matched healthy volunteers. During primary PCI, a significant increase in CD18 molecule density was detected immediately after balloon deflation (reperfusion) on both CD4+ T cells and monocytes obtained from the right atrium (RT) as compared with basal values. These data suggest that upregulation of CD18 molecules plays an important role in local recruitment of CD4+ T cells and monocytes to the site of endothelial damage after ischemia/reperfusion, therefore being responsible, at least in part, for the inflammatory-mediated complications associated with primary PCI.
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Angioplastia Coronária com Balão , Antígenos CD18/biossíntese , Linfócitos T CD4-Positivos/metabolismo , Monócitos/metabolismo , Traumatismo por Reperfusão/metabolismo , Idoso , Linfócitos T CD8-Positivos/metabolismo , Doença das Coronárias/metabolismo , Doença das Coronárias/cirurgia , Feminino , Citometria de Fluxo , Átrios do Coração/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Stents , Veias/metabolismoRESUMO
Nicotinic acetylcholine receptors (nAChRs) are widely expressed in the mammalian central nervous system (CNS). Despite this, very little was known, until recently, about their physiological role. In the periphery, nicotinic receptors mediate vital excitatory fast synaptic cholinergic transmission at both the neuromuscular junction and ganglia. In the brain, this role has been mainly "delegated" to glutamate receptors. The very broad cholinergic innervations of most brain areas, including the cortex, have implicated this system, and brain nicotinic receptors in particular, in a unique "modulatory" role of other transmitters systems. Recent evidence confirms, on one hand, that brain nicotinic receptors have a dominant "presynaptic" modulatory function, controlling the release of both acetylcholine (auto-receptors) and other neurotransmitters (hetero-receptors). On the other hand, more experimental data support the idea that a variable component of fast synaptic transmission in the brain can also be mediated by "postynaptic" nicotinic receptors, which, in turn, can control cell excitability. A challenging goal is to identify which one of the plethora of nicotinic receptor subtypes is mediating each effect in different brain areas, and which of these receptors and functions are lost or affected in different human neuro-psychiatric disorders. Needless to say, a better understanding of the physiological role of brain nicotinic receptors will drive our quest for more selective and efficacious nicotinic receptor targeted therapeutic agents.