Volume 15, Number 4, October/December 2017

Giant esophageal epiphrenic diverticulum: presentation and treatment

Marcelo Protásio dos Santos, Denise Akerman, Caio Pasquali Dias dos Santos, Paulo Vicente dos Santos Filho, Marcos Claudio Radtke, Fernando Bray Beraldo, [...]

DOI: 10.1590/S1679-45082017RC3954

ABSTRACT 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.

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa

DOI: 10.1590/S1679-45082017RC3994

ABSTRACT 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.T.S., 39-year-old, […]

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome

Roberta Cardoso Petroni, Susana Elaine Alves da Rosa, Flavia Pereira de Carvalho, Rúbia Anita Ferraz Santana, Joyce Esteves Hyppolito, Claudia Mac Donald Bley Nascimento, [...]

DOI: 10.1590/S1679-45082017RC4006

ABSTRACT 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. However, this […]

Yolk sac primary tumor of mediastino: a rare case in a young adult

Lorena Luryann Cartaxo da Silva, Fernanda Sasaki Vergilio, Diva Carvalho Collarile Yamaguti, Isabela Azevedo Nicodemos da Cruz, Joana Angrisani Granato Queen

DOI: 10.1590/S1679-45082017RC4008

ABSTRACT 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. […]

Anisocoria after use of dermatological product

Thiago Gonçalves dos Santos Martins, Ana Luiza Fontes de Azevedo Costa, Thomaz Gonçalves dos Santos Martins

DOI: 10.1590/S1679-45082017AI4040

A 45-year-old woman sought ophthalmologic care complaining about a sudden visual acuity on her right eye and anisocoria. She denied previous comorbidities and traumas. Upon examination, her ocular motility was normal and no ptosis was seen. Slit-lamp biomicroscopy and fundoscopy exams were normal. The mydriasis of the right eye, with consensual light reflex of the left eye, did not show changes ( ). The patient, when questioned about the use of medication, reported the use on her face, in the […]

Public health policies and scientific evidence

Wanderley Marques Bernardo

DOI: 10.1590/S1679-45082017ED4314

Patients are the same all over the world. Evidence is the same in the entire world. However, care policies are not the same. This is impossible to understand and unacceptable, since there is no different evidence for public and private care; it is not a matter of being capitalist or socialist, of presence or distribution of money; it is the fight against consumerist, untruthful and voracious capitalism, encouraging licit “robbery”; it is an issue of equity and ethics; of assured […]

Monitoring and treating fetuses with gastroschisis using the Svetliza Reducibility Index (SRI) and the EXIT-like procedure – a novel approach

Manoel Carlos Prieto Velhote

DOI: 10.1590/S1679-45082017ED4238

By and large, Medicine and sciences only advance due to new ideas, which should be tested according to academic standards to be accepted. It is estimated that out of every 100 new and creative ideas, few will effectively give some contribution and lead to improvement. However, remembering Thomas Alva Edison “There’s a way to do it better – find it!”() Therefore, new ideas should not be despised, a priori, as long as they are logic and consistent. The article under […]

Novel multidisciplinary approach to monitor and treat fetuses with gastroschisis using the Svetliza Reducibility Index and the EXIT-like procedure

Gustavo Henrique de Oliveira, Javier Svetliza, Denise Cristina Mós Vaz-Oliani, Humberto Liedtke Junior, Antonio Helio Oliani, Denise Araujo Lapa Pedreira

DOI: 10.1590/S1679-45082017AO3979

ABSTRACT Objective: To describe our initial experience with a novel approach to follow-up and treat gastroschisis in “zero minute” using the EXITlike procedure. Methods: Eleven fetuses with prenatal diagnosis of gastroschisis were evaluated. The Svetliza Reductibility Index was used to prospectively evaluate five cases, and six cases were used as historical controls. The Svetliza Reductibility Index consisted in dividing the real abdominal wall defect diameter by the larger intestinal loop to be fitted in such space. The EXIT-like procedure consists […]

Vascular endothelial growth factor gene variations as a risk predictor in disc degeneration

Aline Amaro, Ana Beatriz Guerra, Matheus Pippa Defino, Luiz Angelo Vieira, Carla Peluso, Bianca Bianco, [...]

DOI: 10.1590/S1679-45082017AO4053

ABSTRACT Objective: To evaluate the frequency of polymorphisms in the vascular endothelial growth factor (VEGF) gene, as well as to identify a potential risk haplotype among the polymorphic regions in this gene in patients with disc degeneration and in the Control Group. Methods: This study analyzed a total of 217 individuals distributed into the Disc Degeneration and Control Groups. Peripheral blood was collected from all patients to detect VEGF gene polymorphisms identified by qPCR (rs699947, rs1570360, rs2010963, rs833061 and rs3025039). […]

Do not attempt resuscitation orders at the emergency department of a teaching hospital

Cássia Regina Vancini-Campanharo, Rodrigo Luiz Vancini, Marcelo Calil Machado Netto, Maria Carolina Barbosa Teixeira Lopes, Meiry Fernanda Pinto Okuno, Ruth Ester Assayag Batista, [...]

DOI: 10.1590/S1679-45082017AO3999

ABSTRACT Objective: To identify factors associated with not attempting resuscitation. Methods: A cross-sectional study conducted at the emergency department of a teaching hospital. The sample consisted of 285 patients; in that, 216 were submitted to cardiopulmonary resuscitation and 69 were not. The data were collected by means of the in-hospital Utstein Style. To compare resuscitation attempts with variables of interest we used the χ2 test, likelihood ratio, Fisher exact test, and analysis of variance (p

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