Deletions within COL11A1 in Type 2 Stickler Syndrome Detected by Multiplex Ligation - Syndrome Detected by Multiplex Ligation Dependent Probe Amplification (MLPA)

Background: COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutations resulting in either Stickler or Marshall syndrome alter splice sites and result in exon skipping, which because of the exon structure of collagen genes usually leaves the message in-frame. The mutant protein then exerts a dominant negative effect as it co-assembles with other collagen gene products. To date only one large deletion of 40 kb in the COL11A1, which was detected by RT-PCR, has been characterized. However, commonly used screening protocols, utilizing genomic amplification and exon sequencing, are unlikely to detect such large deletions. Consequently the frequency of this type of mutation is unknown. Case presentations: We have used Multiplex Ligation-Dependent Probe Amplification (MLPA) in conjunction with exon amplification and sequencing, to analyze patients with clinical features of Stickler syndrome, and have detected six novel deletions that were not found by exon sequencing alone. Conclusion: Exon deletions appear to represent a significant proportion of type 2 Stickler syndrome. This observation was previously unknown and so diagnostic screening of COL11A1 should include assays capable of detecting both large and small deletions, in addition to exon sequencing.

Octreótido - Uma Terapêutica Opcional para Quilotórax Pós-Cirúrgico em Crianças com Cardiopatia Congénita

INTRODUCTION: Chylothorax is a rare but serious postoperative condition in children with congenital heart disease. Conventional medical treatment consists of specific long-term dietary modification, and surgical reintervention, such as lymphatic duct ligation, may be indicated in refractory cases. In recent years, an additional conservative treatment, octreotide, a synthetic analog of somatostatin, has been used in management of congenital and postoperative chylothorax. METHODS: The objective of this work was to analyze the efficacy and safety of this treatment for chylothorax after congenital heart surgery. We reviewed the records of sixteen patients with chylothorax after surgery for congenital heart disease between January 1999 and December 2007, and collected the following data: demographic information; type of surgical procedure; onset, duration and management of chylothorax and treatment; and duration of hospital stay. To analyze efficacy we compared these parameters in children receiving conventional treatment only with those receiving octreotide. To analyze safety we compared the adverse effects of both treatments. Octreotide was administered at a dose of 4 to 10 microg/kg/hour, with monitoring of side effects. RESULTS: The incidence of chylothorax in our population was 1.6%. It occurred more often after Glenn and Fontan procedures (8 patients). Octreotide was begun three days after diagnosis of chylothorax and continued for a median of seventeen days (ranging from 4 to 26 days), until complete resolution. Side effects were frequent (in 3 of the 8 patients) but of no clinical relevance. All patients responded to the therapy and there was no indication for further surgical intervention. DISCUSSION AND CONCLUSIONS: Octreotide is safe and effective in the treatment of postoperative chylothorax in children with congenital heart disease. It is a useful adjunctive therapy to the conventional treatment of this complication.

Sépsis Materna

Infections during pregnancy are prevalent. A small number of cases, however, may be life-threatening. Sepsis may be associated with multiple organ dysfunction and high mortality and it is one of the most common causes of direct maternal death often associated with the inability to recognize the severity of the illness. Long-term morbidity associated with maternal sepsis is significant and includes chronic pelvic inflammatory disease, chronic pelvic pain, bilateral tubal occlusion and infertility. The impact on neonatal mortality is also substantial, with over one million infection-related neonatal deaths eve - ry year. In the last few years, a vast number of clinical reviews of severe sepsis in pregnancy have been published, focusing on the characteristics of pregnant woman, the establishment of a specific treatment and the relevance of pregnancy surveillance by a multidisciplinary team. The treatment of sepsis is time-critical and requires early diagnosis, aggressive resuscitation, antibiotic administration and source control.

Ovarian Ectopic Pregnancy in Adolescence

Ovarian pregnancy is one of the rarest types of extrauterine pregnancy. Its preoperative diagnosis remains a challenge since it presents quite similarly to tubal pregnancy and complicated ovarian cysts. Although in most cases, histology is necessary to confirm the diagnosis, we present an ovarian pregnancy in a teenager, correctly diagnosed during ultrasound examination.