RESUMEN
Transient antenatal Bartter syndrome due to melanoma-associated antigen D2 gene mutation is a newly reported type of Bartter syndrome. Its characteristics include an X-linked inheritance pattern, early-onset hydramnios, and spontaneous disappearance of symptoms after childbirth. To date, there have been no reports of prenatally diagnosed cases. We herein present the case of a preterm male born to a mother with early-onset hydramnios and a family history of X-linked idiopathic hydramnios. We suspected melanoma-associated antigen D2 gene mutation and performed direct sequencing. As a result, we were able to prenatally establish a diagnosis of transient Bartter syndrome due to a melanoma-associated antigen D2 gene mutation.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Antígenos de Neoplasias/genética , Síndrome de Bartter/genética , Pruebas de Detección del Suero Materno , Polihidramnios/diagnóstico , Adulto , Síndrome de Bartter/sangre , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/tratamiento farmacológico , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Masculino , Mutación , EmbarazoRESUMEN
Spindle cell type anaplastic carcinoma of the pancreas is extremely rare and has a very poor prognosis. A previously healthy 68-year-old woman was referred to our hospital due to a large tumor in the body of the pancreas. Abdominal computed tomography revealed an irregular, well-enhanced 140-mm tumor containing a cystic component. The patient underwent distal pancreatectomy for a possible malignant tumor (e.g., mucinous cystic neoplasms). Histological examination showed that the tumor contained spindle-shaped cells and adenocarcinoma with nuclear atypia, and a definitive diagnosis of anaplastic carcinoma spindle cell type was made. A review of 27 cases reported in Japan revealed 43% of these lesions invaded other organs, and 26% were classified in Stage IV at the time of diagnosis. Postoperative recurrence rate was 78.2%, and mortality rate was 59.3%. Early diagnosis and sequential radial surgery would improve the poor prognosis.
Asunto(s)
Carcinoma , Neoplasias Pancreáticas , Anciano , Femenino , Humanos , Japón , Recurrencia Local de Neoplasia , PancreatectomíaRESUMEN
Our aim was to investigate whether sex can be determined from a combination of geometric features obtained from the 10th thoracic vertebra, 6th rib, and 7th rib. Six hundred chest radiographs (300 males and 300 females) were randomly selected to include patients of six age groups (20s, 30s, 40s, 50s, 60s, and 70s). Each group included 100 images (50 males and 50 females). A total of 14 features, including 7 lengths, 5 indices for the vertebra, and 2 types of widths for ribs, were utilized and analyzed for sex determination. Dominant features contributing to sex determination were selected by stepwise discriminant analysis after checking the variance inflation factors for multicollinearity. The accuracy of sex determination using a combination of the vertebra and ribs was evaluated from the selected features by the stepwise discriminant analysis. The accuracies in each age group were also evaluated in this study. The accuracy of sex determination based on a combination of features of the vertebra and ribs was 88.8% (533/600). This performance was superior to that of the vertebra or ribs only. Moreover, sex determination of subjects in their 20s demonstrated the highest accuracy (96.0%, 96/100). The features selected in the stepwise discriminant analysis included some features in both the vertebra and ribs. These results indicate the usefulness of combined information obtained from the vertebra and ribs for sex determination. We conclude that a combination of geometric characteristics obtained from the vertebra and ribs could be useful for determining sex.