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https://www.readbyqxmd.com/read/29106285/liver-kidney-simultaneous-transplantation-in-adult-patients-with-primary-hyperoxaluria-experience-at-hospital-universitario-12-de-octubre
#1
Javier Martínez Caballero, Alberto Marcacuzco Quinto, Iago Justo Alonso, Oana Anisa Nutu, Alejandro Manrique Municio, Jorge Calvo Pulido, Félix Cambra Molero, Óscar Caso Maestro, Carlos Jiménez Romero
Primary hyperoxaluria (PH) is a metabolic liver disease with an autosomal recessive inheritance that results in oxalate overproduction that cannot be metabolized by the liver. Urinary excretion of oxalate results in lithiasis and nephrocalcinosis leading to a progressive loss of renal function that often requires renal replacement therapy despite medical treatment. Type 1 PH is the most common form and is due to a deficiency in the alanine-glycolate aminotransferase enzyme found in hepatic peroxisomes. Therefore, a liver-kidney simultaneous transplant (LKST) is the definitive treatment for end-stage renal disease (ESRD) patients...
November 6, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29099119/el-an%C3%A3-lisis-molecular-de-la-secuencia-del-genoma-completo-de-aislados-cl%C3%A3-nicos-de-vibrio-cholerae-en-m%C3%A3-xico-en-2013-revela-la-presencia-de-la-cepa-causante-de-la-epidemia-de-hait%C3%A3-en-2010
#2
José Alberto Díaz-Quiñonez
La primera semana de septiembre de 2013, el Sistema Nacional de Vigilancia Epidemiológica identificó dos casos de cólera en Ciudad de México. Los cultivos de ambas muestras se confirmaron como Vibrio cholerae serogrupo O1, serotipo Ogawa, biotipo El Tor. Los análisis iniciales por electroforesis por campos pulsados y por reacción en cadena de la polimerasa indicaron que ambas cepas eran similares, pero diferentes de las previamente reportadas en México. La semana siguiente se identificaron cuatro casos más en una comunidad del Estado de Hidalgo, ubicada a 121 kilómetros al noreste de Ciudad de México...
2017: Gaceta Médica de México
https://www.readbyqxmd.com/read/29099113/mapeo-geoepidemiol%C3%A3-gico-en-la-nueva-vigilancia-de-salud-p%C3%A3%C2%BAblica-el-caso-de-la-malaria-en-chiapas-m%C3%A3-xico-en-2002
#3
Carlos Castillo-Salgado
The new public health surveillance requires at the global, national and local levels the use of new authoritative analytical approaches and tools for better recognition of the epidemiologic characteristics of the priority health events and risk factors affecting the population health. The identification of the events in time and space is of fundamental importance so that the geo-spatial description of the situation of diseases and health events facilitates the identification of social, environmental and health care related risks...
2017: Gaceta Médica de México
https://www.readbyqxmd.com/read/29089105/simultaneous-pancreas-kidney-transplantation-experience-of-the-doce-de-octubre-hospital
#4
Carlos Jiménez-Romero, Alberto Marcacuzco Quinto, Alejandro Manrique Municio, Iago Justo Alonso, Jorge Calvo Pulido, Félix Cambra Molero, Óscar Caso Maestro, Álvaro García-Sesma, Enrique Moreno González
INTRODUCTION: Simultaneous pancreas-kidney transplantation (SPKT) constitutes the therapy of choice for diabetes type1 or type2 associated with end-stage renal disease, because is the only proven method to restore normo-glicemic control in the diabetic patient. METHODS: Retrospective and descriptive study of a series of 175 patients who underwent SPKT from March 1995 to April 2016. We analyze donor and recipient characteristics, perioperative variables and immunosuppression, post-transplant morbi-mortality, patient and graft survival, and risk factors related with patient and graft survival...
October 28, 2017: Cirugía Española
https://www.readbyqxmd.com/read/28991291/catastrophic-antiphospholipid-syndrome-case-report-and-literature-review
#5
Luis del Carpio-Orantes, Chantall Citlally Martínez-Anaya, Elías Bonilla-Casas
The present document is the report of a case of a very rare clinical entity, which presents with acute multiorganic failure after a thrombotic storm related to antiphospholipid antibodies, the so-called catastrophic antiphospholipid syndrome, which began as a recurrent picture of mesenteric thrombosis, with a previous history of venous insufficiency and distal ulcers probably associated with an unidentified antiphospholipid; deserving management in intensive care and the consultation by the world expert, Dr...
2017: Gaceta Médica de México
https://www.readbyqxmd.com/read/28954037/periprosthetic-humeral-fractures-after-reverse-shoulder-arthroplasty-case-report
#6
Andre Wajnsztejn, Noel Oizerovici Foni, Dan Oizerovici, Robinson Esteves Santos Pires, Benno Ejnisman
Periprosthetic fractures is a severe complication after joint replacement. The rapidly increase of reverse shoulder arthroplasty surgeries, periprosthetic humeral fractures, which are described as rare, may increase in the near future. We report the case of displaced humeral fracture bellow the stem of reverse shoulder prosthesis. The patient was an 85-year-old woman who had a total shoulder replacement 6 years previously. The surgical solution consisted of plate osteossynthesis and cerclage. This report describes an unprecedented case in Brazilian literature; and gives an overview of the existing literature including this injury classification...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28954036/yolk-sac-primary-tumor-of-mediastino-a-rare-case-in-a-young-adult
#7
Lorena Luryann Cartaxo da Silva, Fernanda Sasaki Vergilio, Diva Carvalho Collarile Yamaguti, Isabela Azevedo Nicodemos da Cruz, Joana Angrisani Granato Queen
Germ cell tumors are rare neoplasms that mostly occur in the gonads, although they can also affect other body sites, especially the anterior mediastinum (50 to 70% of all extragonadal germ cell tumors). We report a case of a primary mediastinal yolk sac tumor, a rare and aggressive germ cell tumors subtype. This was a 38-year-old man who was admitted to Hospital do Servidor Público Estadual "Francisco Morato de Oliveira", complaining about dyspnea and dry cough for 1 year. The computed tomography scan of his chest revealed a large mass in the anterior mediastinum with heterogeneous enhancement to the contrast associated with pleural effusion...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28954035/preimplantation-genetic-diagnosis-associated-to-duchenne-muscular-dystrophy
#8
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28954034/giant-esophageal-epiphrenic-diverticulum-presentation-and-treatment
#9
Marcelo Protásio Dos Santos, Denise Akerman, Caio Pasquali Dias Dos Santos, Paulo Vicente Dos Santos, Marcos Claudio Radtke, Fernando Bray Beraldo, José Eduardo Gonçalves
Epiphrenic diverticulum is a rare disease associated with esophageal motor disorders that is usually asymptomatic and has a well-established surgical indication. We report a case of giant epiphrenic diverticulum in a 59-year-old symptomatic woman who was diagnosed after underwent complementary exams. Because of her symptoms, the surgical treatment was chosen, and esophageal diverticulectomy was performed along with laparoscopic cardiomyotomy and anterior partial fundoplication. RESUMO O divertículo epifrênico é uma patologia rara associada a distúrbios motores esofágicos e, frequentemente, assintomática, tendo indicações cirúrgicas bem estabelecidas...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28793109/older-adults-abuse-in-three-brazilian-cities
#10
Rosalina Aparecida Partezani Rodrigues, Edilene Araújo Monteiro, Ana Maria Ribeiro Dos Santos, Maria de Lourdes de Farias Pontes, Jack Roberto Silva Fhon, Alisson Fernandes Bolina, Fernanda Laporti Seredynskyj, Vanessa Costa Almeida, Suelen Borelli Lima Giacomini, Giovanna Partezani Cardoso Defina, Luipa Michele Silva
Objective: To analyze the police reports filed by older adults who suffered abuse in order to identify the socio-demographic characteristics of victims and aggressors, type of violence, location, as well as to compare rates in three Brazilian cities in the period from 2009 to 2013. Method: Ecological study, in which 2,612 police reports registered in Police Stations were analyzed. An instrument was used to obtain data from the victim, the aggressor and the type of violence...
July 2017: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/28792985/pulmonary-foreign-body-granulomatosis-in-a-chronic-user-of-powder-cocaine
#11
Shruti Khurana, Ankit Chhoda, Sandeep Sahay, Priyanka Pathania
We describe the case of a 33-year-old man, a chronic user of powder cocaine, who presented with dyspnea, fever, night sweats, and significant weight loss. Chest HRCT revealed centrilobular nodules, giving an initial impression of miliary tuberculosis. Therefore, he was started on an empirical, four-drug antituberculosis treatment regimen. Four weeks later, despite the tuberculosis treatment, he continued to have the same symptoms. We then performed transbronchial lung biopsy. Histopathological analysis of the biopsy sample revealed birefringent foreign body granuloma...
August 3, 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28767923/surgical-correction-of-ectopic-penis-and-scrotum-associated-with-bilateral-orchidopexy
#12
Daniel Santos Rocha Sobral, Helder Damásio da Silva, Eulálio Damázio
Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of a testicular sac was prepared...
April 2017: Einstein
https://www.readbyqxmd.com/read/28767922/pemphigus-foliaceus-as-a-differential-diagnosis-in-vesicobullous-lesions
#13
Louise de Almeida Ferreira Fonseca, Célia Antônia Xavier de Moraes Alves, Ivan Aprahamian, Clóvis Antônio Lopes Pinto
Given the challenge of clinical diagnosis of bullous skin lesions, this report aimed to discuss the histological changes, the presentation and clinical reasoning for diagnosis of these lesions. At the same time, the importance of the pathology was reviewed to identify these clinical scenarios. In this case report, we highlighted the clinical progression of a case of pemphigus foliaceus. RESUMO Considerando o desafio do diagnóstico clínico de lesões cutâneas de apresentação bolhosa, o presente trabalho procurou discutir as alterações histológicas, a apresentação e o raciocínio clínico para o diagnóstico de tais lesões...
April 2017: Einstein
https://www.readbyqxmd.com/read/28746593/ferritin-light-chain-gene-mutations-in-two-brazilian-families-with-hereditary-hyperferritinemia-cataract-syndrome
#14
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
#15
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.
July 2017: Einstein
https://www.readbyqxmd.com/read/28746591/the-therapeutic-challenge-of-giant-splenic-artery-aneurysm-a-case-repport
#16
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 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
#17
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 2017: Einstein
https://www.readbyqxmd.com/read/28737879/-visceral-leishmaniasis-pediatric-case-report
#18
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
#19
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
#20
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
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