A Prospective Study of Sudden Cardiac Death among Children and Young Adults.

Background: Sudden cardiac death among children and young adults is a devastating event. We performed a prospective, population-based, clinical and genetic study of sudden cardiac death among children and young adults.

Methods: We prospectively collected clinical, demographic, and autopsy information on all cases of sudden cardiac death among children and young adults 1 to 35 years of age in Australia and New Zealand from 2010 through 2012.

Spontaneous expulsion of large submucosal uterine fibroid without embolisation - a case study.

: This case involved a 35-year-old G6P0 with multiple uterine fibroids detected at 12 weeks gestation. Fibroid growth was monitored throughout pregnancy, and intrauterine growth restriction (< 5th centile) was detected at 20 weeks. Fetal demise occurred at 22+ weeks gestation at which time the largest of fibroids measured 150 × 100 × 118 mm and labour was induced.

First trimester findings of combined duodenal and oesophageal atresia with a trachea-oesophageal fistula.

This case demonstrates the ability to diagnose a significant duodenal atresia coexisting with an oesophageal atresia with associated tracheo-oesophageal fistula within the first trimester, however the mechanisms underlying the sonographic features remain uncertain.

Congenital midline cervical cleft with an underlying bronchogenic like cyst.

Congenital midline cervical cleft (CMCC) is an uncommon malformation. We report a case of a baby girl aged 3 days with a CMCC associated with a cyst reported as a bronchogenic cyst (BC). The pathology is not specific.

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder of the lung with defining histologic abnormalities typically associated with multiple congenital anomalies (MCA). Using array CGH analysis, we have identified six overlapping microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.

What may underlie recurrent purpura fulminans?

A woman presenting with recurrent purpura fulminans was eventually found to have inflammatory bowel disease. We suggest the inflammatory state resulted in a deficiency of functional protein C.

Placental mesenchymal dysplasia associated with hepatic mesenchymal hamartoma in the newborn.

Placental mesenchymal dysplasia is an uncommon disorder in which the placenta is enlarged with abnormal, large, and often cystic villi with dilated and/or thick-walled vessels. These placental changes can mimic a partial hydatidiform mole but in contrast to a partial mole can coexist with a fully viable fetus. Fetal anatomical and vascular anomalies frequently coexist with placental mesenchymal dysplasia.

A rare case of adenoviral fulminant hepatic necrosis after chemotherapy.

The authors report a rare case of fulminant adenoviral hepatic necrosis occurring after chemotherapy in a patient with a second relapse of acute myeloid leukemia. The literature is reviewed and the role of rapid viral diagnosis in the clinical management of this complication is discussed. A 10-year-old girl with relapsed acute myeloid leukemia after allogeneic bone marrow transplant underwent re-induction chemotherapy with high-dose cytosine arabinoside and amsacrine.

Prenatal diagnosis of partial tetrasomy 14: a case study.

Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY,+mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14.