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https://www.readbyqxmd.com/read/28746593/ferritin-light-chain-gene-mutations-in-two-brazilian-families-with-hereditary-hyperferritinemia-cataract-syndrome
#1
Roberta Cardoso Petroni, Susana Elaine Alves da Rosa, Flavia Pereira de Carvalho, Rúbia Anita Ferraz Santana, Joyce Esteves Hyppolito, Claudia Mac Donald Bley Nascimento, Nelson Hamerschlak, Paulo Vidal Campregher
Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified...
July 24, 2017: Einstein
https://www.readbyqxmd.com/read/28746592/endoscopic-surveillance-of-extensive-esophageal-papillomatosis-not-amenable-to-endoscopic-therapy
#2
Angelo Paulo Ferrari, Fernanda Prata Martins
We present two cases of esophageal papillomatosis, a very rare reported disease leading to dysphagia and did not improve after endoscopic treatment. Both patients refused surgery and they were followed-up for 3 years, but no significant clinical or endoscopic changes were seen. RESUMO Apresentamos dois casos de papilomatose esofágica, lesão raramente relatada, que pode levar à disfagia, e que não teve melhora após tratamento endoscópico. Ambos os pacientes recusaram cirurgia e foram acompanhados por até 3 anos, sem alterações clínicas ou endoscópicas importantes...
July 24, 2017: Einstein
https://www.readbyqxmd.com/read/28746591/the-therapeutic-challenge-of-giant-splenic-artery-aneurysm-a-case-repport
#3
Paulo Kauffman, Antonio Luiz de Vasconcellos Macedo, Roberto Sacilotto, Adriano Tachibana, Sergio Kuzniec, Lucas Lembrança Pinheiro, Nelson Wolosker
Giant splenic artery aneurysm is a rare condition that represents an eminent life threatening for the patient, requiring, therefore, urgent surgical correction. A 61-year-old woman, former smoker, hypertensive, hypercholesterolemic and multipara sought our service because of a large tumor in the mesogastrium, which was an abdominal ultrasound finding. Despite the size of the tumor, the patient was asymptomatic. The angiotomography and the magnetic resonance image of the abdomen were suggestive of giant splenic artery aneurysm with more than 10cm in diameter that was confirmed by an angiography...
July 24, 2017: Einstein
https://www.readbyqxmd.com/read/28746590/successful-treatment-of-post-transplant-relapsed-acute-myeloid-leukemia-with-flt3-internal-tandem-duplication-using-the-combination-of-induction-chemotherapy-donor-lymphocyte-infusion-sorafenib-and-azacitidine-report-of-three-cases
#4
Paulo Vidal Campregher, Vinicius Renan Pinto de Mattos, Marco Aurélio Salvino, Fabio Pires de Souza Santos, Nelson Hamerschlak
Acute myeloid leukemia is a hematopoietic stem cell neoplastic disease associated with high morbidity and mortality. The presence of FLT3 internal tandem duplication mutations leads to high rates of relapse and decreased overall survival. Patients with FLT3 internal tandem duplication are normally treated with hematopoietic stem cell transplantation in first complete remission. Nevertheless, the incidence of post-transplant relapse is considerable in this group of patients, and the management of this clinical condition is challenging...
July 24, 2017: Einstein
https://www.readbyqxmd.com/read/28737879/-visceral-leishmaniasis-pediatric-case-report
#5
Andrés Gomila H, Carolina Vanzo, Analía Garnero, Luisina Peruzzo, Mónica Badalotti
La leishmaniasis es una enfermedad causada por parásitos obligados intracelulares pertenecientes al género Leishmania y que reconoce tres formas clínicas principales: cutánea, visceral y mucocutánea. Es una patología del grupo de las "enfermedades desatendidas". Es la única enfermedad tropical transmitida a través de vectores que se ha mantenido endémica por décadas en el sur de Europa. La leishmaniasis visceral representa la forma más grave. Se caracteriza por fiebre, pérdida de peso, anemia y hepatoesplenomegalia...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28707169/living-with-a-peripherally-inserted-central-catheter-the-perspective-of-cancer-outpatients-a-qualitative-study
#6
Paula Parás-Bravo, María Paz-Zulueta, Miguel Santibañez, Cesar Fernández-de-Las-Peñas, Manuel Herrero-Montes, Vanesa Caso-Álvarez, Domingo Palacios-Ceña
PURPOSE: The aim of this study was to describe the experience of using a peripherally inserted central catheter (PICC) in cancer sufferers receiving outpatient treatment. METHODS: A qualitative, phenomenological study was performed. Purposeful sampling methods were used. Data collection methods included semi-structured interviews and researcher field notes. Thematic analysis was used to analyze data. The study was conducted following the Consolidated Criteria for Reporting Qualitative Research guidelines...
July 13, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28538784/tracheobronchopathia-osteochondroplastica
#7
Mara Graziele Maciel Silveira, Maria Vera Cruz de Oliveira Castellano, Clarice Emiko Fuzi, Ester Nei Aparecida Martins Coletta, Guilherme Nogueira Spinosa
Tracheobronchopathia osteochondroplastica is a rare benign disease, of unknown cause, characterized by numerous sessile, cartilaginous, or bony submucosal nodules distributed throughout the anterolateral walls, projecting into the laryngotracheobronchial lumen. In general, tracheobronchopathia osteochondroplastica is diagnosed incidentally during bronchoscopy or autopsy and is not associated with a specific disease. We report the case of a male patient who was diagnosed with tracheobronchopathia osteochondroplastica via bronchoscopy and biopsy...
March 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28538777/tuberculosis-recurrence-in-a-priority-city-in-the-state-of-s%C3%A3-o-paulo-brazil
#8
Amadeu Antonio Vieira, Danila Torres Leite, Solange Adreoni
Objective: To describe cases of tuberculosis recurrence (TBR), stratified by temporal classification (early or late TBR), and to identify possible predictors of such recurrence. Methods: This was an analytical retrospective observational epidemiological study involving a cohort of 963 new cases of pulmonary tuberculosis, reported and treated via the Tuberculosis Control Program in the city of Carapicuíba, Brazil. The study period was from 2000 to 2010. All of the pulmonary tuberculosis patients who successfully completed the treatment (with or without confirmation of cure) were selected and followed until December 31, 2012...
March 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28504507/-mosaic-trisomy-18-series-of-cases
#9
Francisco Cammarata-Scalisi, María A Lacruz-Rengel, Dianora Araque, Gloria Da Silva, Andrea Avendaño, Michele Callea, Frances Stock, Yudith Guerrero, Eliomar Aguilar, María J Lacruz, Jesús Sulbaran
Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28444097/chronic-polyarthritis-as-the-first-manifestation-of-childhood-systemic-polyarteritis-nodosa
#10
Glaucia Vanessa Novak, Koken Hayashi, Kohei Sampa, Yosuke Okumura, Gabriela Ribeiro Viola Ferreira, Clovis Artur Silva
Arthritis has been reported as an acute pattern, generally evanescent with oligoarthritis, mostly affecting knees and ankles in childhood systemic polyarteritis nodosa. However, chronic polyarthritis with morning stiffness mimicking juvenile idiopathic arthritis has not been reported. We describe the case of a 4-year old girl who had additive and chronic polyarthritis with edema, tenderness, pain on motion and morning stiffness for 2 months. After 45 days, she also presented painful subcutaneous nodules and erythematous-violaceous lesions in the extensor region of upper and lower limbs...
January 2017: Einstein
https://www.readbyqxmd.com/read/28410605/frosted-branch-angiitis-and-cerebral-venous-sinus-thrombosis-as-an-initial-onset-of-neuro-beh%C3%A3-et-s-disease-a-case-report-and-review-of-the-literature
#11
Bruno Fortaleza de Aquino Ferreira, Ever Ernesto Caso Rodriguez, Leandro Lara do Prado, Celio Roberto Gonçalves, Carlos Eduardo Hirata, Joyce Hisae Yamamoto
BACKGROUND: Frosted branch angiitis is a rare, severe condition. It can be either a primary or a secondary condition and is characterized by rapid deterioration of vision and fulminant retinal vasculitis that manifests as diffuse sheathing of retinal vessels, macular edema, papillitis, vitritis and anterior uveitis. We aimed to describe a case of frosted branch angiitis and cerebral venous sinus thrombosis as an initial neuro-Behçet's disease onset. Diagnosis of Behçet's disease was based on the current 2014 International Criteria for Behçet's Disease and the International consensus recommendation criteria for neuro-Behçet's disease...
April 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28225908/intimate-partner-violence-reported-by-female-and-male-users-of-healthcare-units
#12
Claudia Renata Dos Santos Barros, Lilia Blima Schraiber
OBJECTIVE: To analyze nonfatal violence suffered and committed by adult men and women, in an intimate relationship. METHODS: The participants in the research were women aged between 15 and 49 years and men between 18 and 60 years, interviewed by face-to-face questionnaire application. The sample selection was of consecutive type, according to the order of arrival of the users. We conducted temporarily independent investigations and covered different health services to avoid couples and relationships in which the retaliation could be overvalued...
February 16, 2017: Revista de Saúde Pública
https://www.readbyqxmd.com/read/28146159/governance-and-mental-health-contributions-for-public-policy-approach
#13
REVIEW
Lina Díaz-Castro, Armando Arredondo, Blanca Estela Pelcastre-Villafuerte, Marc Hufty
OBJECTIVE: To analyze the conceptualization of the term governance on public mental health programs. METHODS: In this systematic review, we analyzed the scientific literature published in the international scenario during 15 years (from 2000 to 2015). The databases analyzed were: Medline, CINAHL, PsycINFO and PubMed. Governance and mental health were the descriptors. We included relevant articles according to our subject of study and levels of analysis: (i) the concept of governance in mental health; (ii) process and decision spaces; (iii) strategic and pertinent actors who operate in the functioning of the health system, and (iv) social regulations...
January 30, 2017: Revista de Saúde Pública
https://www.readbyqxmd.com/read/28125151/pleuroparenchymal-fibroelastosis-report-of-two-cases-in-brazil
#14
Paula Silva Gomes, Christina Shiang, Gilberto Szarf, Ester Nei Aparecida Martins Coletta, Carlos Alberto de Castro Pereira
Pleuroparenchymal fibroelastosis (PPFE) is a rare lung disease. It can be idiopathic or associated with any one of various conditions. To our knowledge, this is the first report of two cases of PPFE in Brazil. Our first patient presented with pleural and subpleural fibrosis in the upper lobes; a spiculated nodule in the left upper lobe; and a mild reticular pattern in the lower lobes. Surgical lung biopsy revealed PPFE in the upper lobes, including the nodule, and unclassified interstitial pneumonia in the left lower lobe...
January 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28117471/temporal-analysis-of-reported-cases-of-tuberculosis-and-of-tuberculosis-hiv-co-infection-in-brazil-between-2002-and-2012
#15
Renato Simões Gaspar, Natália Nunes, Marina Nunes, Vandilson Pinheiro Rodrigues
Objective: To investigate the reported cases of tuberculosis and of tuberculosis-HIV co-infection in Brazil between 2002 and 2012. Methods: This was an observational study based on secondary time series data collected from the Brazilian Case Registry Database for the 2002-2012 period. The incidence of tuberculosis was stratified by gender, age group, geographical region, and outcome, as was that of tuberculosis-HIV co-infection. Results: Nationally, the incidence of tuberculosis declined by 18%, whereas that of tuberculosis-HIV co-infection increased by 3...
November 2016: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28076606/giant-gastric-lipossarcoma-case-report-and-review-of-the-literature
#16
REVIEW
Jacques Matone, Samuel Okazaki, Gabriel Naman Maccapani, Thiago Trolez Amancio, Renée Zon Filippi, Antonio Luiz de Vasconcellos Macedo
Liposarcoma is one of the most common soft tissue sarcomas in adults, occurring in 15 to 20% of all patients with sarcoma. Primary liposarcoma of the stomach is rare. We report a case of patient with giant gastric liposarcoma who underwent surgery after a gastrointestinal bleeding. Preoperative hystopathological diagnosis was not established, even after three biopsy attempts. We discuss differential diagnosis, genetic causes, diagnosis strategies and treatment. RESUMO O lipossarcoma é um tipo comum de sarcomas em adultos, com incidência entre 15 e 20% entre os sarcomas...
October 2016: Einstein
https://www.readbyqxmd.com/read/28076449/long-term-follow-up-of-patients-after-percutaneous-coronary-intervention-with-everolimus-eluting-bioresorbable-vascular-scaffold
#17
Rafael Alexandre Meneguz-Moreno, José de Ribamar Costa, Freddy Antônio Britto Moscoso, Rodolfo Staico, Luiz Fernando Leite Tanajura, Marinella Patrizia Centemero, Auréa Jacob Chaves, Andrea Claudia Leão de Sousa Abizaid, Amanda Guerra de Moraes Rego E Sousa, Alexandre Antonio Cunha Abizaid
Background: Bioresorbable vascular scaffolds (BVS) were developed to improve the long-term results of percutaneous coronary intervention, restoring vasomotion. Objectives: To report very late follow-up of everolimus-eluting Absorb BVS (Abbott Vascular, Santa Clara, USA) in our center. Methods: Observational retrospective study, in a single Brazilian center, from August 2011 to October 2013, including 49 patients submitted to Absorb BVS implantation...
February 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27982338/rupture-of-celiac-trunk-aneurysm-in-patient-with-beh%C3%A3-et-disease
#18
Márcio Luís Lucas, Tiago Frankini, Ângelo Frankini, Newton Aerts, Tatiana Freitas Tourinho
We report a case of a ruptured aneurysm of the celiac trunk in a 32-year-old, male patient with Behçet Disease (BD). Aneurysm resection was performed and the patient is well during a follow up of 32 months. To our knowledge, this is the first reported case of a ruptured celiac trunk aneurysm successfully treated in a patient with BD. RESUMO Relatamos o caso de um aneurisma roto do tronco celíaco em um paciente de 32 anos, do sexo masculino, portador de Doença de Behçet (DB). A ressecção do aneurisma foi realizada e o paciente está bem, com acompanhamento de 32 meses...
September 2016: Revista do Colégio Brasileiro de Cirurgiões
https://www.readbyqxmd.com/read/27982337/right-hepatic-artery-aneurysm
#19
Astrid Del Pilar Ardila Bernal, Paulo Loures, Juan Cristóbal Ospina Calle, Beatriz Cunha, Juan Camilo Córdoba
We report a case of an aneurysm of the right hepatic artery and its multidisciplinary management by general surgery, endoscopy and radiology services. Being a case of extremely low incidence, it is important to show its diagnostic and therapeutic approach. RESUMO Relatamos um caso de aneurisma da artéria hepática direita conduzido de forma multidisciplinar pelos Serviços de Cirurgia Geral, Endoscopia e Radiologia. Em se tratando de caso de incidência baixíssima, é importante mostrar o enfoque diagnóstico e terapêutico usado em seu manejo...
September 2016: Revista do Colégio Brasileiro de Cirurgiões
https://www.readbyqxmd.com/read/27812640/applications-for-a-hybrid-operating-room-in-thoracic-surgery-from-multidisciplinary-procedures-to-image-guided-video-assisted-thoracoscopic-surgery
#20
Ricardo Mingarini Terra, Juliano Ribeiro Andrade, Alessandro Wasum Mariani, Rodrigo Gobbo Garcia, Jose Ernesto Succi, Andrey Soares, Paulo Marcelo Zimmer
The concept of a hybrid operating room represents the union of a high-complexity surgical apparatus with state-of-the-art radiological tools (ultrasound, CT, fluoroscopy, or magnetic resonance imaging), in order to perform highly effective, minimally invasive procedures. Although the use of a hybrid operating room is well established in specialties such as neurosurgery and cardiovascular surgery, it has rarely been explored in thoracic surgery. Our objective was to discuss the possible applications of this technology in thoracic surgery, through the reporting of three cases...
September 2016: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
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