104 results

X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

Camila Nascimento Alves, Tiago Kiyoshi Kitabayashi Braga, Danusa Neves Somensi, Bruno Sérgio Vilhena do Nascimento, José Antônio Santos de Lima, Satomi Fujihara

DOI: 10.1590/S1679-45082018RC4011

ABSTRACT The X-linked spinal and bulbar muscular atrophy (Kennedy’s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition in the androgen receptor gene. Patients with Kennedy’s disease have more than 39 CAG repetitions. We report a case of 57-year-old man, resident of Monte Dourado (PA, Brazil) who complained of brachiocrural paresis evolving for 3 years along […]

Immunotherapy-induced pneumonitis: cases report

Henrique Alkalay Helber, Aline Lury Hada, Raquel Baptista Pio, Pedro Henrique Zavarize de Moraes, Diogo Bugano Diniz Gomes

DOI: 10.1590/S1679-45082018RC4030

ABSTRACT Immunotherapy-induced pneumonitis is a rare complication with incidence estimated around 3%. This disease is difficult to diagnose and has great morbidity. For this reason, it became a challenge for oncologists and emergencists. We reviewed the case of five patients who used anti-PD1 (program cell death receptor antagonist 1) for antineoplastic treatment and developed treatment-induced pneumonitis. All patients had respiratory problems because of immunotherapy and presence of ground-glass radiologic change. Among all patients, only one had grade 5 pneumonitis, and […]

Influence of growth hormone replacement on neurological and psychomotor development. Case report

Felipe Motta, Adriana Pasmanik Eisencraft, Lindiane Gomes Crisostomo

DOI: 10.1590/S1679-45082018RC3961

ABSTRACT The height response to the use of growth hormone in short height cases has already been confirmed in the literature. The influence of the insulin-like growth factor 1 (GH-IGF1) axis components on development, function, regeneration, neuroprotection, cognition, and motor functions has been evaluated in experimental studies and in adults with central nervous system lesions. However, there is still little research on the clinical impact of hormone replacement on neurological and psychomotor development. This report presents the case of a […]

Clinical and immunohistochemical study of melanotic neuroectodermal tumor of infancy in the maxilla

Hellen Bandeira de Pontes Santos, Aníbal Henrique Barbosa de Luna, Pedro Everton Marques Goes, Alexander Tadeu Sverzut, Cassiano Francisco Weege Nonaka, Pollianna Muniz Alves

DOI: 10.1590/S1679-45082018RC4025

ABSTRACT Melanotic neuroectodermal tumor of infancy is a rare and fast-growing neoplasm. In this study, we describe the case of a 6-month-old female patient, who presented swelling in the anterior maxilla. Tomographic reconstruction showed an unilocular hypodense and expansive area associated with the upper right central primary incisor. The presumptive diagnoses were dentigerous cyst, adenomatoid odontogenic tumor, melanotic neuroectodermal tumor of infancy and rhabdomyosarcoma, and an incisional biopsy was performed. Microscopically, the lesion revealed a biphasic cell population, consisting of […]

Periprosthetic humeral fractures after reverse shoulder arthroplasty. Case report

Andre Wajnsztejn, Noel Oizerovici Foni, Dan Oizerovici, Robinson Esteves Santos Pires, Benno Ejnisman

DOI: 10.1590/S1679-45082017RC4037

ABSTRACT 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; […]

Aspects of images in magnetic resonance of liver tumors treated with transarterial selective internal radiotherapy with yttrium-90

Breno Boueri Affonso, Joaquim Maurício da Motta-Leal-Filho, Francisco de Assis Cavalcante Jr., Francisco Leonardo Galastri, Rafael Noronha Cavalcante, Priscila Mina Falsarella, [...]

DOI: 10.1590/S1679-45082017RC4015

ABSTRACT Transarterial selective internal radiation therapy with yttrium-90, also known as radioembolization, is a therapy based on the administration of resin or glass microspheres loaded with the radioisotope yttrium-90, via selective arterial catheterization of tumor-feeding vessels. It is classified as a type of locoregional therapy and its main goal is to treat patients with primary or secondary hepatic lesions that are unresectable and not responsive to other therapies. Since it is a new technology still restricted to very few hospitals […]

Intra-arterial fibrinolysis for the management of acute ischemia on a below-knee amputation stump. Case report

Breno Boueri Affonso, Joaquim Maurício da Motta-Leal-Filho, Rafael Noronha Cavalcante, Priscila Mina Falsarella, Francisco Leonardo Galastri, Rodolfo Souza Cardoso, [...]

DOI: 10.1590/S1679-45082017RC4014

ABSTRACT Preservation of the knee joint has enormous advantages in terms of mobility and rehabilitation of an amputee. Any cause of breakdown requiring revision to an above-knee amputation is a major setback because it reduces the patient’s rehabilitative potential. We report a case of intra-arterial thrombolysis use to save a below-knee amputation stump with acute ischemia. A 56-year-old man who sought the emergency department with 1-day history of acute pain on his right below-knee stump. The angiography confirmed popliteal artery […]

Specificities of presentation of Crohn’s disease in childhood

Bruna Karoline Pinheiro França Protásio, Camila Maria Pinheiro Machado Martins Barbosa, Clarice Blaj Neufeld, Leandro Dimasi Buck, Lygia de Souza Lima Laund, Mauro Sergio Toporovski, [...]

DOI: 10.1590/S1679-45082017RC4070

ABSTRACT The incidence of inflammatory bowel disease in the pediatric population has increased in the last years. The most common form of inflammatory bowel disease is Crohn’s disease and, according to its form and age of presentation, it is possible to predict the evolution of the disease.

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. […]

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, […]

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