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BACKGROUND: Primary hyperhidrosis is defined as excessive sweating of idiopathic etiology, associated with sympathetic hyperactivity, which greatly impacts patients' quality of life (QoL). The definitive treatment for palmar and axillary hyperhidrosis (PAH) is video-assisted thoracic sympathectomy (VATS). The objective of this study was to evaluate the quality of life of patients with PAH before and after VATS according to the level of sympathectomy performed, as well as the presence of compensatory hyperhidrosis (CH) and other complications. METHODS: All patients who underwent VATS in our vascular surgery department between January 2011 and December 2016 were included in the analysis. From 120 contact attempts, 88 interviews were carried out. Patients were divided into 2 groups according to the intervened thoracic level: high thoracic ganglion (HTG; T2, T2-T3, T2-T3-T4; n = 68) and low thoracic ganglion (LTG; T3, T3-T4, T4; n = 20). The questionnaire evaluated preoperative PAH severity, the presence of CH, preoperative and postoperative QoL, and postoperative satisfaction. RESULTS: The median age of patients was 29 years, and the median follow-up period was 32 months (IQR of 34 months). Most patients had severe or very severe PAH (97.7%) and preoperative QoL was bad or very bad (95.5%). Postoperatively, QoL was significantly improved in all domains evaluated, with no differences observed between the groups. The overall percentage of complications was 11.4%, mostly pneumothorax, but there was a significantly lower incidence of complications in the HTG group (P = 0.029). Compensatory hyperhidrosis developed in 85.2% of cases, but it was only considered intolerable in 10.2%. The incidence of CH was 82.4% in the HTG group and 95% in the LTG group, with no statistically significant differences between the groups (P = 0.147). CONCLUSIONS: Palmar and axillary hyperhidrosis severely affects QoL, and video-assisted thoracic sympathectomy was proven to be effective regardless of the target ganglion resected. Although CH was frequent, it was tolerated in most cases.
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Gânglios Simpáticos/cirurgia , Hiperidrose/cirurgia , Complicações Pós-Operatórias/etiologia , Qualidade de Vida , Sudorese , Simpatectomia/efeitos adversos , Cirurgia Torácica Vídeoassistida/efeitos adversos , Adolescente , Adulto , Feminino , Gânglios Simpáticos/fisiopatologia , Humanos , Hiperidrose/diagnóstico , Hiperidrose/fisiopatologia , Hiperidrose/psicologia , Masculino , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/psicologia , Fatores de Risco , Simpatectomia/métodos , Resultado do Tratamento , Adulto JovemRESUMO
INTRODUCTION: The aim of this study is to evaluate the outcome of catheter directed thrombolysis (CDT) in acute lower limb ischaemia depending on the underlying etiology. METHODS: Retrospective single center analysis of electronic clinical data on patients with acute lower limb ischaemia treated with CDT. Between January 2011 and September 2017, 128 procedures in 106 patients were included. The etiology of ischaemia was native artery thrombosis in 39 procedures (30,5%), PTFE graft thrombosis in 56 (43,8%), intra-stent thrombosis in 11 (8,6%), emboly in 9 (7%), popliteal aneurysm thrombosis in 9 (7%), vein graft thrombosis in 2 (1,6%) and popliteal artery entrapment in 2 (1,6%). RESULTS: Median follow-up time was 14 months [range: 6-31], during which 22% needed further intervention. The need for reintervention was 27,6% in native artery thrombosis group, 65,2% in PTFE graft thrombosis group, 18,2% in intra- stent thrombosis group. No reinterventions occurred neither in popliteal aneurysm group or emboly group. Amputation free survival was 83,3% (SE 4,6%) at 27 months and cumulative incidence of death was 10,1% (SE 5,2%) at 32 months, with no differences between the groups. CONCLUSION: Intra-arterial thrombolytic therapy achieves good mid-term clinical outcomes, reducing obviating the need to open surgical treatment in many patients. These results support the choice for CDT as a valid option in acute limb ischaemia of several etiologies.
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Isquemia , Terapia Trombolítica , Humanos , Isquemia/tratamento farmacológico , Estudos Retrospectivos , Resultado do Tratamento , Grau de Desobstrução VascularRESUMO
INTRODUCTION: Hepatic artery aneurysms (HAAs) are rare, representing about 0.1-2% of all arterial aneurysms. They are the second most common splanchnic aneurysms, after splenic artery aneurysms. They have the highest rate of rupture among all splanchnic artery aneurysms and frequently become symptomatic. METHODS: To present a case of a hepatic artery aneurysm treated by endovascular technique. RESULTS: A 65-year old man who had a medical history of hypertension, dyslipidemia and smoking, with an incidental finding on a CT imaging of a hepatic artery aneurysm (maximum diameter 75mm) was admitted for selective arteriography and treatment. He was asymptomatic. We proceeded to aneurysm exclusion with a self-expandable covered stent (Viabahn®) 6x100mm. Final angiography revealed permeability of right hepatic artery, splenic artery and gastroduodenal artery, and no visible endoleaks. He was discharged on the 4th postoperative day, asymptomatic and without analytic changes. On a 6 months follow-up, CT-angio confirmed a fully patent stent with no visible endoleaks and complete aneurysm exclusion. CONCLUSION: HAAs should be diagnosed before rupture. Abdominal pain, bleeding or compression may be the first symptoms. Exclusion by endovascular techniques, namely through covered- stent use, may be a good option.
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Aneurisma , Implante de Prótese Vascular , Procedimentos Endovasculares , Artéria Hepática , Idoso , Aneurisma/cirurgia , Artéria Hepática/cirurgia , Humanos , Masculino , Artéria Esplênica , Stents , Resultado do TratamentoRESUMO
INTRODUCTION: Brachial artery aneurysms are relatively uncommon and generally due to infectious, post-traumatic or iatrogenic etiology. They seem to affect 4.5% of arteriovenous fistula. The usual manifestation is an accidental finding of a pulsatile, painless, and asymptomatic mass. Complications include sac thrombosis, thromboembolic ischaemic events, and disruption with profuse bleeding. METHODS: The aim of this study is to present a case of true brachial artery aneurysm in end-stage renal disease patient after arteriovenous fistula creation. RESULTS: Sixty-six-year-old men with a past medical history of hypertension, dyslipidemia, smoking and poliquistic renal disease. He started a hemodialysis program in March 2006, using a brachiocephalic fistula on the left upper limb, built in February 2005. Submitted to kidney transplant in June 2010 and subsequent fistula ligation in December 2012. He goes to the emergency service in June 2016 with a pulsatile mass on the medial aspect of the left arm. Pain, redness and heat were present. Radial pulse was palpable. Inflammatory parameters were high and ultrasound revealed a fusiform aneurysm of the brachial artery with partial thrombosis and triphasic flow. An MRI was performed, documenting a brachial artery aneurysm, with 44mm greatest diameter and an extension of 17.5cm. Patient was hospitalized under antibiotic therapy and submitted to a reversed great saphenous vein interposition graft. Discharge from hospital occurred on the 7th postoperative day, with no sensitive or motor deficits and a present radial pulse. CONCLUSION: Arterial aneurysm is a rare, but significant complication long after the creation of a hemodialysis access. High flow, immunosuppression and increased resistance following ligation of the AV fistula may accelerate this process.
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Aneurisma , Fístula Arteriovenosa , Derivação Arteriovenosa Cirúrgica , Idoso , Aneurisma/etiologia , Aneurisma/cirurgia , Derivação Arteriovenosa Cirúrgica/efeitos adversos , Artéria Braquial/patologia , Humanos , Masculino , Diálise Renal , Resultado do TratamentoRESUMO
INTRODUCTION: Carotid body tumours (CBT) are rare paragangliomas for which surgical resection is still the recommended treatment. Frequently they are a benign disorder, discovered as asymptomatic neck masses located at the carotid bifurcation. Preoperative embolization has been used to decrease tumor volume, intraoperative blood loss and nerve injuries.There is however still much controversy and some studies argue that this strategy could increase risks without benefit. This study aimed to investigate the impact of embolization on CBT resection outcomes. Methods: We analyzed all electronic clinical records on consecutive patients treated in the last 10 years (January 2008 - January 2018) in our vascular surgery department. Patients were divided into 2 groups according to treatment: preoperative embolization and subsequent resection (PE) and resection alone (RA). The following variables were reviewed and compared between groups: age, gender, tumor size, surgery duration, days of hospitalization, complications and transfusion needs. Results: Sixteen tumours were treated. Of these, 6 underwent PE and 10 underwent RA. Median follow-up was 54 months (IQR 78). All tumours were benign and no disease recurrence was detected. When compared, PE and RA groups had no differences in Shamblin classification (p=0.068), although tumor's median size was significantly bigger in CBT-PE (49mm v. 35,5mm, p=0,016).The days of hospitalization were significantly higher in the PE group (median 7 vs 3 p=0.012). Concerning surgery time (201min v. 141min, p=0.093), cranial nerve injury (66.7% v. 20%, p=0.092) and need for intraoperative transfusion (16,7% v. 10%, p=0.625), no differences were found. Conclusions: The role of preoperative embolization in CBT has been questioned. In this study we found no benefits supporting embolization prior to surgery.
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Tumor do Corpo Carotídeo , Embolização Terapêutica , Humanos , Tumor do Corpo Carotídeo/diagnóstico por imagem , Resultado do Tratamento , Recidiva Local de Neoplasia/etiologia , Embolização Terapêutica/efeitos adversos , Procedimentos Cirúrgicos Vasculares/efeitos adversosRESUMO
Failed back surgery syndrome (FBSS) is a condition characterized by persistent or recurring back pain following spinal surgery. Etiological factors for FBSS are being studied by investigators and clinicians in an attempt to organize them based on their temporal relation to the surgery event. However, many questions regarding the pathophysiology of FBSS remain, which has resulted in a lack of efficacy among its treatment options. In this report, we present a remarkable case of longitudinally extensive transverse myelitis (LETM) in a patient with a medical history of FBSS who was taking multiple pain medications but had persisting pain. The patient, a 56-year-old woman, presented with an incomplete motor injury (American Spinal Injury Association Impairment Scale D) and a neurological level of C4. Investigations revealed an idiopathic LETM that was unresponsive to high doses of corticosteroids. An inpatient rehabilitation program was initiated, resulting in favorable clinical progress. The patient no longer complained of back pain, and her pain medication was gradually discontinued. At the time of discharge, the patient was able to walk with a stick, dress and groom herself independently, and eat with an adapted fork without experiencing pain. As the pain mechanisms underlying FBSS are complex and not yet fully understood, this clinical case aims to contribute to the discussion of possible pathological mechanisms implicated in LETM that may have contributed to the shutdown of pain perception in a patient with a history of FBSS. By doing so, we hope to identify new and effective ways to treat FBSS.
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Background: Handicap is a patient-centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late-stage Parkinson's Disease (PD). Objective: To characterize the handicap of a broader sample of patients. Methods: A cross-sectional study of 405 PD patients during the MDS-UPDRS Portuguese validation study, using the MDS-UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ-8 and EQ-5D-3L. Handicap was measured using the London Handicap Scale (LHS). Results: Mean age was 64.42 (±10.3) years, mean disease duration 11.30 (±6.5) years and median HY 2 (IQR, 2-3). Mean LHS was 0.652 (±0.204); "Mobility," "Occupation" and "Physical Independence" were the most affected domains. LHS was significantly worse in patients with longer disease duration, older age and increased disability. In contrast, PDQ-8 did not differentiate age groups. Handicap was significantly correlated with disease duration (r = -0.35), nonmotor experiences of daily living (EDL) (MDS-UPDRS-I) (r = -0.51), motor EDL (MDS-UPDRS-II) (r = -0.69), motor disability (MDS-UPDRS-III) (r = -0.49), axial signs of MDS-UPDRS-III (r = -0.55), HY (r = -0.44), presence of nonmotor symptoms (r = -0.51) and PDQ-8 index (r = -0.64) (all P < 0.05). Motor EDL, MDS-UPDRS-III and PDQ-8 independently predicted Handicap (adjusted R 2 = 0.582; P = 0.007). Conclusions: The LHS was easily completed by patients and caregivers. Patients were mild-moderately handicapped, which was strongly determined by motor disability and its impact on EDL, and poor QoL. Despite correlated, handicap and QoL seem to differ in what they measure, and handicap may have an added value to QoL. Handicap seems to be a good measure of perceived-health status in a broad sample of PD.
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Imageamento por Ressonância Magnética/métodos , Melaninas/metabolismo , Doença de Parkinson/diagnóstico por imagem , Substância Negra/diagnóstico por imagem , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Masculino , Pessoa de Meia-Idade , Mutação/genética , Doença de Parkinson/genéticaRESUMO
Iatrogenic injury of the inferior vena cava is very uncommon but can lead to serious devastating sequelae. This can occur during reoperative or congenital surgery but also during routine cardiac surgery. We have presented a very rare case of a partial obstruction of the inferior vena cava-right atrium junction after multiple cardiac surgeries, which was treated using an endovascular percutaneous approach.
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Interleukin-7 receptor α (encoded by IL7R) is essential for lymphoid development. Whether acute lymphoblastic leukemia (ALL)-related IL7R gain-of-function mutations can trigger leukemogenesis remains unclear. Here, we demonstrate that lymphoid-restricted mutant IL7R, expressed at physiological levels in conditional knock-in mice, establishes a pre-leukemic stage in which B-cell precursors display self-renewal ability, initiating leukemia resembling PAX5 P80R or Ph-like human B-ALL. Full transformation associates with transcriptional upregulation of oncogenes such as Myc or Bcl2, downregulation of tumor suppressors such as Ikzf1 or Arid2, and major IL-7R signaling upregulation (involving JAK/STAT5 and PI3K/mTOR), required for leukemia cell viability. Accordingly, maximal signaling drives full penetrance and early leukemia onset in homozygous IL7R mutant animals. Notably, we identify 2 transcriptional subgroups in mouse and human Ph-like ALL, and show that dactolisib and sphingosine-kinase inhibitors are potential treatment avenues for IL-7R-related cases. Our model, a resource to explore the pathophysiology and therapeutic vulnerabilities of B-ALL, demonstrates that IL7R can initiate this malignancy.
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Subunidade alfa de Receptor de Interleucina-7/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Animais , Antineoplásicos/farmacologia , Linhagem Celular Tumoral , Sobrevivência Celular/genética , Mutação com Ganho de Função , Heterozigoto , Homozigoto , Humanos , Subunidade alfa de Receptor de Interleucina-7/metabolismo , Camundongos , Penetrância , Lesões Pré-Cancerosas/genética , Lesões Pré-Cancerosas/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Células Precursoras de Linfócitos B/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética , Transdução de Sinais/efeitos dos fármacosRESUMO
INTRODUCTION: Post-operative anastomotic pseudo-aneurysms are rare but potentially lethal complications after the Bentall procedure. When symptomatic or ruptured, expedited repair is warranted, and open surgery may carry significant bleeding risk, particularly when these lesions project anteriorly. As totally endovascular techniques are frequently limited owing to hostile anatomies, complex hybrid interventions are an alternative option in such scenarios. REPORT: A 53 year old man with a previous Bentall procedure performed 10 years previously for DeBakey type 1 dissection was admitted with chest pain. Computed tomography angiography revealed a distal anastomotic pseudo-aneurysm. Percutaneous pseudo-aneurysm occlusion with a septal occluder plug was performed initially, with significant clinical improvement but without total sac thrombosis. The patient was discharged under strict surveillance, but six months later was re-admitted owing to hoarseness and new onset of chest pain. As the patient developed acute pain and compressive symptoms, urgent treatment was required. As the pseudo-aneurysm projected anteriorly into the posterior aspect of sternum, significantly bleeding risk was anticipated with redo sternotomy. A hybrid repair was then planned, with a full supra-aortic trunk debranching (carotid-carotid and left carotid-subclavian bypass) and zone 0 TEVAR with a single parallel graft to the brachiocephalic trunk. The patient was discharged 10 days later. Total aneurysm exclusion was achieved, with no complications reported after six months follow up. DISCUSSION: Hybrid procedures may represent a safe and feasible alternative to open surgery in symptomatic ascending aortic pseudo-aneurysms. However, long term follow up studies are required to confirm the durability of these procedures.
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CONTEXT: In our practice, in a spinal cord injury unit, clinical examinations include anal sensation and voluntary anal contraction, which are essential for neurological classification of spinal cord injury according to international standards (ISNCSCI), but we also always examine the integrity of the sacral segments, testing anal tone and anal and bulbocavernosus reflexes (S2-S4 segments) and the dartos reflex to evaluate the thoracolumbar sympathetic pathway. FINDINGS: In this paper, we describe four case reports of bladder dysfunction in which a clinical examination of the lower sacral segments was decisive to identify the neurological etiology. CONCLUSION/CLINICAL RELEVANCE: These cases, in patients with unexplained bladder dysfunction, highlight the importance of clinical testing the sacral segments, as part of the neurological examination, otherwise sacral lesions may remain undetected.
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Região Lombossacral/patologia , Traumatismos da Medula Espinal/complicações , Bexiga Urinaria Neurogênica/diagnóstico , Adulto , Idoso de 80 Anos ou mais , Feminino , Humanos , Região Lombossacral/fisiopatologia , Masculino , Pessoa de Meia-Idade , Traumatismos da Medula Espinal/diagnóstico , Bexiga Urinaria Neurogênica/etiologiaRESUMO
Parkinson's disease (PD) is a progressive neurodegenerative disorder known for the typical motor features associated. Pathologically, it is characterized by the intracellular accumulation of alpha-synuclein (aSyn) in Lewy bodies and Lewy neurites. Currently, there are no established biochemical markers for diagnosing or for following disease progression, a major limitation for the clinical practice. Posttranslational modifications (PTMs) in aSyn have been identified and implicated on its pathobiology. Since aSyn is abundant in blood erythrocytes, we aimed to evaluate whether PTMs of aSyn in the blood might hold value as a biomarker for PD. We examined 58 patients with PD and 30 healthy age-matched individuals. We found that the levels of Y125 phosphorylated, Y39 nitrated, and glycated aSyn were increased in PD, while those of SUMO were reduced. A combinatory analysis of the levels of these PTMs resulted in an increased sensitivity, with an area under curve (AUC) of 0.843 for PD versus healthy controls, and correlated with disease severity and duration. We conclude that the levels of these selected PTMs hold strong potential as biochemical markers for PD. Ultimately, our findings might facilitate the monitoring of disease progression in clinical trials, opening the possibility for developing more effective therapies against PD.
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Doença de Parkinson/sangue , Processamento de Proteína Pós-Traducional , alfa-Sinucleína/metabolismo , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , alfa-Sinucleína/isolamento & purificaçãoRESUMO
Introdução:O vírus da imunodeficiência Humana e a Síndrome daImunodeficiência Adquirida (HIV/Aids) ainda é expressivamente presente em grupos que sofrem de vulnerabilidades sociais, sendo umdesafio ainda não superado, principalmente no que diz respeito ao desempenho de ações de saúde e por parte dos gestores no sentidoda realização de prevenções amplas, baseadas nos contextos epidemiológicos das comunidades, cabendo também considerar os problemasde estrutura da rede de saúde para com o manejo diagnóstico, contextos de desigualdade e gênero que são as principais influencias para o desenvolvimento da doença.Objetivo:observar por meio de indicadores o panorama da situação do HIV/Aids no Piauí no ano de 2019. Metodologia:Estudo epidemiológico realizado através da plataforma do Departamento de informática do Sistema Único de Saúde. Foram consultadosdados referentes ao período de 2019do Estado do Piauí. Utilizou-se os indicadores de incidência, sexo, raça/cor, faixa etária, escolaridade e exposição, com foco nas taxas de incidência, óbitos e letalidade. Os dados foram agrupados e tabulados por meio dos programas Excel e Tabwin, utilizandoo método de análise a técnica de percentagem.Resultados:No período vigente, o Estado apresentou 207 novos casos. A incidência foi de 6,32/100.000 habitantes, tendo maior detecção parao público masculino (73,91%), faixa etária de 30-39 anos, maior predominância da população parda, escolaridade de ensino médio completo e heterossexuais. Quanto a mortalidade, foram notificados134 óbitos por HIV, predominante para o sexo masculino. A Letalidade mostrou que 65% foram realmente afetadas pela doença.Conclusões:O perfil epidemiológico dos casos de HIV/Aids no Piauí foi caracterizado pela prevalência emdeterminados grupos, demonstrando que apesar da existência de políticas públicas que buscam a prevenção da doença, essa realidade ainda é presente nos dias atuais. Ressalta-se a importância da realização de estudos epidemiológicos para comparação e analise situacionais futuras (AU).
Introduction:The Human Immunodeficiency Virus and the Acquired Immunodeficiency Syndrome (HIV/Aids) is still significantly present in groups that suffer from social vulnerabilities, being a challenge that has not yet been overcome, especially with regard to the performance of health actions and by the managers in the sense of carrying out comprehensive prevention, based on the epidemiological contexts of the communities, and it is also necessary to consider the problems of the structure of the health network in terms of diagnostic management, contexts of inequality and gender, which are the main influences on the development of the disease. Objective: observe through indicators the panorama of the situation of HIV/Aidsin Piauí in theyear 2019. Methodology:Epidemiological study carried out through the platform of the Information Technology Department of the Unified Health System. Data for the period 2019 in the State of Piauí were consulted. Indicators of incidence, sex, race/color, age, education and exposure were used, focusing on incidence rates, deaths and lethality. Data were grouped and tabulated using Excel and Tabwin programs, using the method of analysis and the percentage technique. Results: In the current period, the State presented 207 new cases. The incidence was 6.32/100,000 inhabitants, with greater detection for the male population (73.91%), age group 30-39 years, greater predominance of the brown population, complete high school education and heterosexuals. As for mortality, 134 deaths from HIV were reported, predominantly for males. Lethality showed that 65% were actually affected by the disease.Conclusions: The epidemiological profile of HIV/Aidscases in Piauí was characterized by the prevalence in certain groups, demonstrating that despite the existence of public policies that seek to prevent the disease, this reality is still present today. The importance of conducting epidemiological studies for future situational comparison and analysis is highlighted (AU).
Introducción: El Virus de la Inmunodeficiencia Humanael Síndrome de Inmunodeficiencia Adquirida (VIH/Sida) sigue estando presente de manera significativa en grupos que padecen vulnerabilidades sociales, siendo un desafío aún no superado, especialmente en lo que respecta al desempeño de las acciones de salud y por el gestores en el sentido de realizar una prevención integral, con base en los contextos epidemiológicos de las comunidades, y también es necesario considerar los problemas de la estructura de la red de salud en términos de gestión diagnóstica, contextos de desigualdad y género, que son los principales influencias en desarrollo deenfermedad. Objetivo: observar indicadores a través del panoramade situación del VIH/Sidaen Piauí en el año 2019. Metodología: Estudio epidemiológico realizado a través de la plataforma del Departamento de Tecnología de la Información del Sistema Único de Salud. Se consultó la fecha para el período 2019 enEstado de Piauí. Se utilizaron indicadores de incidencia, sexo, raza/color, edad, educación y exposición, centrándose en las tasas de incidencia, las muertes y letalidad. Los datos se agruparon, tabularon medianteprogramas Excel y Tabwin, utilizando método de análisis ytécnica de porcentaje. Resultados: Enperíodo actual, el Estado presentó 207 nuevos casos. La incidencia fue de 6,32/100.000 habitantes, con mayor detecciónpara población masculina (73,91%), grupo etario 30-39 años, mayor predominio de la población morena, bachillerato completo y heterosexuales. En cuantola mortalidad, se reportaron 134 muertes por VIH, predominantemente por males. La letalidad mostró que el 65% estaba realmente afectadopor enfermedad. Conclusiones: El perfil epidemiológico delos casos de VIH/Sida en Piauí se caracterizó porprevalencia de ciertos grupos, demostrando que a pesar de la existencia de políticas públicas que buscan prevenir la enfermedad, esta realidad sigue presenteen actualidad. Se destacaimportancia de realizar estudios epidemiológicos para futuros análisis y comparaciones situacionales (AU).
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Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Síndrome da Imunodeficiência Adquirida/mortalidade , Fatores Socioeconômicos , Brasil/epidemiologia , Estudos Epidemiológicos , IncidênciaRESUMO
INTRODUCTION: Mutations in the GBA gene, encoding for the lysosomal enzyme glucocerebrosidase, are associated with Gaucher disease. Alterations in plasma sphingolipids have been reported in Gaucher, and similarly in brain extracts in Lewy body disease. As GBA mutations are prevalent risk factors for Parkinson's disease and overlap of molecular pathways are presumable, here we assessed the lipid profiles in Parkinson's patients with and without GBA mutations. METHODS: We sequenced all GBA exons in 415 Parkinson's patients, previously genotyped for LRRK2. 64 patients (29 GBA positive vs. 35 non-GBA-carriers including 18 LRRK2 positive and 17 non-mutated) were analyzed for chitotriosidase activity and for the concentration of 40 lipid classes using HPLC-MS. RESULTS: 29/415 patients (6.9%) carried 8 different GBA mutations associated with Gaucher or Parkinson's, including one novel mutation. Chitotriosidase activity was similar across the genetic groups, while the levels of key lipids were altered in GBA mutation carriers: Monohexosylceramide, Ceramide and Sphingomyelin were elevated; while Phosphatidic acid (PA), Phosphatidylethanolamine (PE), Plasmalogen phosphatidylethanolamine (PEp) and Acyl Phosphatidylglycerol (AcylPG) were decreased. CONCLUSION: The results suggest an important role for these lipids in GBA mediated Parkinson's disease and assist in the identification of common pathways between Gaucher and Parkinson's. Ultimately, our findings may lead to the identification of novel biomarkers for individuals at increased risk of developing Parkinson's disease.
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Biomarcadores/sangue , Lipídeos/sangue , Doença de Parkinson/sangue , Idoso , Feminino , Glucosilceramidase/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Doença de Parkinson/genéticaRESUMO
Objective: This study aimed to evaluate the evidence available in the literature on probiotics on breast cancer. Methods: It is an integrative review of the literature, through the PICO strategy, with the guiding question "Does probiotics consumption act on oxidative stress and reduces the risk of breast cancer"? The selection of articles was made on MEDLINE, SciELO and PubMed, including those published between 2016 and january 2021, using the keywords: "breast cancer" AND "probiotics" AND "microbiota" their combinations in Portuguese and English, with previously established inclusion criteria. Results and Discussion: The sample consisted of ten articles, and the answers found were: scientific research in vivo and in vitro, with some variations of probiotics strains, where all demonstrate actions and/or effects on cancer cells or acted on metabolic pathways mitigating the development of tumors. Conclusions: The manifested potential for a possible insertion in the treatment and prevention of breast cancer, being considered an innovation for the scientific community that still fights against various types of problems related to human health, especially some types of cancers, of negative prognoses and with difficult therapeutic interventions.
Objetivo: Este estudo avaliou a literatura disponível sobre probióticos no câncer da mama. Métodos: É uma revisão integrativa da literatura, através da estratégia pico, com a pergunta orientadora "O consumo de probióticos atua sobre o stress oxidativo e reduz o risco de câncer da mama"? A seleção de artigos foi feita no MEDLINE, SciELO e PubMed, incluindo os publicados entre 2016 e janeiro de 2021, utilizando as palavras-chave: "câncer da mama" E "probióticos" E "microbiota" as suas combinações em português e inglês, com critérios de inclusão previamente estabelecidos. Resultados e Discussão: A amostra consistiu em dez artigos, e as respostas encontradas foram: investigação científica in vivo e in vitro, com algumas variações de estirpes de probióticos, onde todos demonstram ações e/ou efeitos sobre as células cancerosas ou atuaram sobre vias metabólicas mitigando o desenvolvimento de tumores. Conclusões: O potencial manifestado para uma possível inserção de probióticos no tratamento e prevenção do câncer da mama, sendo considerado uma inovação para a comunidade científica que ainda luta contra vários tipos de problemas relacionados com a saúde humana, especialmente alguns tipos de câncer de prognósticos negativos e com intervenções terapêuticas difíceis.
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Terapêutica , Neoplasias da Mama , Probióticos , Prevenção de Doenças , Microbiota , NeoplasiasRESUMO
A meningite recorrente linfocítica benigna ou meningite de Mollaret, inicialmente descrita pelo neurologista francês Pierre Mollaret em 1944, é uma condição relativamente rara, benigna mas incapacitante durante os seus períodos de agudização. Trata-se de quadro inï¬amatório meníngeo recorrente devido a reativação de infecção pelo herpes simples vírus, particularmente o herpesvirus do tipo 2 (HSV-2). Pode ser reconhecida a partir do seu quadro clínico de meningismo agudo, perfil liquórico linfocítico e identificação do genoma viral por PCR no líquor. Aciclovir e seus derivados podem ser utilizado no seu tratamento ou na sua profilaxia. Sua identificação é importante no sentido de se excluir outras causas de quadros meníngeos recorrentes.
Benign recurrent lymphocytic meningitis or Mollaret's meningitis (MM) was frst described by the French neurologist Pierre Mollaret in 1944. MM is a relatively rare, benign but disabling condition. MM is a recurrent meningeal inï¬ammatory illness due to reactivation of herpes simplex virus infection, particularly herpesvirus type 2 (HSV-2). It can be recognized from its clinical picture of acute meningism, lymphocytic CSF profle and by the identifcation of the viral genome in the CSF by PCR. Acyclovir and its derivatives may be used for its treatment or prophylaxis. The identifcation of MM is important in order to exclude other causes of recurrent meningeal conditions.
Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Herpes Simples/diagnóstico , Herpes Simples/etiologia , Meningite Asséptica/diagnóstico , Meningite Asséptica/tratamento farmacológico , Aciclovir/uso terapêutico , Herpesvirus Humano 2/patogenicidade , Diagnóstico Diferencial , Neurologia/históriaRESUMO
O soro de leite é considerado um subproduto das indústrias de laticínios, uma parte de sua produção é destinada como matéria-prima de produtos alimentícios, mas parte é direcionada para alimentação animal. Objetivou-se com o presente estudo elaborar formulas de emulsões do tipo maionese utilizando ingrediente proteico o soro de leite em pó, leite desnatado em pó e a mistura entre soro e leite, ambos em pó, bem como investigar a influência destes ingredientes na textura, reologia, análise térmica, índice de estabilidade, análise colorimétrica e a vida útil das formulações. Justifica-se a utilização de soro de leite devido a seu menor preço de mercado do que ovos em pó ou líquido pasteurizado normalmente utilizados, evidenciando a necessidade de dar espaço a matérias-primas consideradas como subprodutos dentro da indústria. Os produtos emulsionados foram formulados com mistura de óleo, água, soro de leite em pó, leite desnatado em pó, alho e mostarda em pó, contendo aproximadamente 70% de gordura, com variação no teor proteico. Foram estabelecidas três formulações cada uma com um tipo ou mistura de emulsificantes. As análises efetuadas no desenvolvimento do trabalho foram textura, reologia, atividade de água, pH, colorimetria, análise térmica, índice de estabilidade da emulsão e cálculo de proteínas e lipídeos das formulações. Foi possível verificar que tanto o soro de leite em pó como o leite desnatado em pó apresentaram características de agente emulsificante.A formulação F1 (soro de leite em pó) não atingiram os padrões estruturais de maioneses comerciais, todavia os resultados obtidos pela formulação F2 (leite desnatado em pó) atingiram padrões equivalentes a produtos comercializados, bem como a formulação F3 (soro de leite em pó + leite desnatado em pó) com padrão das maioneses light em textura e reologia. Os resultados das análises de atividade de água apresentaram pequenas variações (0,934-0,941) ao longo dos 30 dias de avaliação. Os conservantes em pó (alho e mostarda) favoreceram a coloração das formulações, pH na faixa da neutralidade, assegurando aos produtos vida útil de 30 dias em temperatura de refrigeração. É possível utilizar osoro de leite e leite em pó como agente emulsificante para emulsões do tipo maionese, bem como alho e mostarda em pó como ingredientes que aumentem a maior vida útil desses produtos
Whey is considered a by-product of the dairy industry, part of its production is used as raw material for food products, but part is used for animal feed. The objective of this study was to prepare mayonnaise emulsion formulas using protein whey powder, skimmed milk powder and the mixture between whey and milk, both in powder, as well as investigating the influence of these ingredients on texture, rheology, thermal analysis, stability index, colorimetric analysis and the useful life of the formulations. The use of whey is justified due to its lower market price than powdered eggs or pasteurized liquid normally used, highlighting the need to make room for raw materials considered as by-products within the industry. The emulsified products were formulated with a mixture of oil, water, whey powder, skimmed milk powder, garlic and mustard powder, containing approximately 70% fat, with variation in protein content. Three formulations were established each with a type or mixture of emulsifiers. The analyzes carried out in the development of the work were texture, rheology, water activity, pH, colorimetry, thermal analysis, emulsion stability index and calculation of proteins and lipids in the formulations. It was possible to verify that both whey powder and skimmed milk powder showed characteristics of emulsifying agent. Formulation F1 (whey powder) did not reach the structural standards of commercial mayonnaise, however the results obtained by formulation F2 (skimmed milk powder) reached standards equivalent to commercialized products, as well as the formulation F3 (whey powder + skimmed milk powder) with light mayonnaise pattern in texture and rheology. The results of the water activity analysis showed slight variations (0.934-0.941) over the 30 days of evaluation. The preservatives in powder (garlic and mustard) favored the color of the formulations, pH in the neutrality range, ensuring the products' useful life of 30 days in refrigeration temperature. It is possible to use whey and powdered milk as an emulsifying agent for emulsions of the mayonnaise type, as well as garlic and mustard powder as ingredients that increase the longer useful life of these products
Assuntos
Reologia/classificação , Química Farmacêutica , Leite/efeitos adversos , Emulsões/farmacologia , Soro do Leite/metabolismo , Colorimetria/métodos , Indústria de Laticínios/classificação , Emulsificantes/agonistas , Alimentos/efeitos adversos , Conservantes de Alimentos , Ração Animal/classificaçãoRESUMO
Objectivos: Síntese interpretativa crítica com o objectivo de analisar e reflectir sobre os contributos dos sistemas de apoio à tomada de decisão para a Enfermagem. Métodos: Realizada uma revisão do período de Janeiro de 2004 e Junho de 2011, recorrendo à pesquisa em bases de dados electrónicas: B-On (Annual Reviews, Elsivier, SpringerLink, Wiley Online Library, Academic Search Complete, Pubmed, Web of Science e RCAAP), SCOPUS e EBSCO. Utilizou-se como descritores enfermagem, sistemas de apoio à tomada de decisão, com o carácter boleano "and". Resultados: Dos 15 artigos seleccionados, emergiram 4 categorias relacionadas com os Sistemas de Apoio à Tomada de Decisão para a prática de Enfermagem: segurança dos clientes; suporte aos enfermeiros; melhoria da qualidade dos cuidados e limitações dos sistemas de apoio à tomada de decisão. Conclusão: Os contributos dos sistemas de apoio à tomada de decisão para a prática de enfermagem que mais se destacam são: segurança dos clientes e suporte aos enfermeiros. Contudo ficam patentes algumas limitações como a ausência de inclusão de Conhecimento da disciplina de Enfermagem na construção destes sistemas e a dificuldade dos Enfermeiros na utilização dos mesmos.
Objective: Critical interpretative synthesis in order to analyze and reflect on the contributions of systems to support decision making for nursing. Methods: We carried out a review between the period January 2004 and June 2011 using the search in electronic databases : B-On (Annual Reviews, Elsivier, SpringerLink, Wiley Online Library, Academic Search Complete, PubMed, Web of Science and unless otherwise indicated), SCOPUS and EBSCO. It was used as descriptors nursing, systems to support decision making, with the character Boolean "and". Findings: Of the 15 articles selected, four categories emerged relating to the support systems for decision making Nursing practice: safety of customers, support for nurses, improving the quality of care and limitation of systems to support decision making. Conclusions: The contributions of systems to support decision making for nursing practice that stand out are: security and customer support to nurses. But patents are some limitation such as the lack of inclusion of knowledge of nursing discipline in building these systems and the difficulty of nurses in the use thereof.
Objetivos: Síntesis interpretativa crítica con el fin de analizar y reflexionar sobre las contribuciones de los sistemas de apoyo a la toma de decisiones para la enfermería. Métodos: Se llevó a cabo una revisión del período de enero de 2004 y junio de 2011 mediante la búsqueda en bases de bases de datos electrónicas: B-On (revisiones anuales, Elsivier, Springer, Wiley Online Library, Academic Search, PubMed, Web of Science, ya menos que se indique lo contrario), SCOPUS y EBSCO. Fue utilizado como descriptores de enfermería y sistema de soporte de decisiones, con el boolean carácter "and". Resultados: De los 15 artículos seleccionados, emergieron cuatro categorías relativas a los sistemas de apoyo a la toma de decisiones para la práctica de enfermería: la seguridad de los clientes; el apoyo a las enfermeras; la mejora de la calidad de la atención y las limitaciones de los sistemas de apoyo a la toma de decisiones. Conclusiones: Las contribuciones de los sistemas de apoyo a la toma de decisiones para la práctica de enfermería que se destacan son: la seguridad y la atención al cliente para las enfermeras. Pero las patentes son algunas limitaciones como la falta de inclusión de los conocimientos de la disciplina de enfermería en la construcción de estos sistemas y la dificultad de las enfermeras en el uso de los mismos.