6 documents found, page 1 of 1
Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
Pinto,Fátima; Pina,Carla; Rodrigues,Maria Céu; Carrilho,Inês; Saraiva,Joaquim; Mendes,Maria José; Santos,Joana; Martins,MárciaInfantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 g...
Síndrome de Choque Tóxico Estafilocócico
Pina,Carla; Carvalho,Isabela; Teixeira,Marcília; Rodrigues,GraçaOs autores apresentam um caso clínico de Síndrome de Choque Tóxico Estafilocócico (SCTE) num puerpério cirúrgico de gravidez gemelar, com realce das particularidades clínicas e terapêuticas, tecendo algumas considerações teóricas actuais sobre este tema.
Pelvic Tuberculosis The Great Simulator of Gynaecologic Malignancies
Pina,Carla; Teixeira,Marcília; Cruz,Diana; Ferreira,Eduardo; Mesquita,Mari; Torgal,AnaPelvic tuberculosis remains a global health problem, primarily in developing countries where insufficient health services and high human immunodeficiency virus prevalence have increased the burden of disease. Diagnosis of extra pulmonary tuberculosis is often difficult, because of its unspecific clinical, laboratory and radiological findings.The authors present two clinical cases of pelvic tuberculosis. The clinical...
Escherichia coli Sepsis Following Second-trimester Amniocentesis
Pina,Carla; Pinto,Fátima; Rodrigues,Maria do Céu; Santos,Joana LimaAmniocentesis is a safe procedure with low risk for complications including infection. A case of genetic amniocentesis followed by Escherichia coli sepsis is reported. Bacteriological data showed positive blood cultures to Escherichia coli. The mechanisms of infection are discussed: contamination from the instruments, systemic dissemination of bacteria coming from an asymptomatic intra-amniotic infection and in...
Primary Uterine Angiosarcoma
Pina,Carla; Teixeira,Marcília; Torres,Sílvia; Oliveira,Cristina; Ferreira,Eduardo; Alves,António; Branco,PaulaPrimary uterine angiosarcoma is a malignant tumor of the vascular endothelium that occurs predominately in peri and postmenopausal women with uterine bleeding and anemia. We present a case of a 66-year-old woman with uterine angiosarcoma who underwent abdominal hysterectomy and bilateral salpingo-oophorectomy, showing the importance of immunohistochemical staining in making the final diagnose. Histologically, th...
Enfarte espontâneo da mama: caso clinico
Pina,Carla; Vaz,Inês; Montalvão,Manuela; Ramos,Umbelina; Leite,Delfina PereiraOs autores apresentam um caso clínico de enfarte espontâneo da mama numa doente de 28 anos, cujo quadro clínico teve início no 3º dia de puerpério e o diagnóstico protelado cerca de 4 meses, dado ter sido inicialmente interpretado como abcesso da mama.