Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

<p>Abstract</p> <p>Background</p> <p>Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated <it>TBX1 </it>as a critical gene in the pathogenesis of the syndrome. The aim of study was to determine the incidence of the 22q11.2 deletion in Chinese patients with CTDs and the possible mechanism for pathogenesis of CTDs.</p> <p>Methods</p> <p>We enrolled 212 patients with CTDs and 139 unrelated healthy controls. Both karyotypic analysis and multiplex ligation-dependent probe amplification were performed for all CTDs patients. Fluorescence <it>in situ </it>hybridization was performed for the patients with genetic deletions and their relatives. The <it>TBX1 </it>gene was sequenced for all patients and healthy controls. The <it>χ</it>²and Fisher's exact test were used in the statistical analysis.</p> <p>Results</p> <p>Thirteen of the 212 patients with CTDs (6.13%) were found to have the 22q11.2 deletion syndrome. Of the 13 cases, 11 presented with a hemizygous interstitial microdeletion from <it>CLTCL1 </it>to <it>LZTR1</it>; one presented with a regional deletion from <it>CLTCL1 </it>to <it>DRCR8</it>; and one presented with a regional deletion from <it>CDC45L </it>to <it>LZTR1</it>. There were eight sequence variants in the haploid <it>TBX1 </it>genes of the del22q11 CTDs patients. The frequency of one single nucleotide polymorphism (SNP) in the del22q11 patients was different from that of the non-del patients (<it>P </it>< 0.05), and the frequencies of two other SNPs were different between the non-del CTDs patients and controls (<it>P </it>< 0.05).</p> <p>Conclusions</p> <p>CTDs, especially pulmonary atresia with ventricular septal defect and tetralogy of Fallot, are the most common disorders associated with the 22q11.2 deletion syndrome. Those patients with both CTDs and 22q11.2 deletion generally have a typical or atypical deletion region within the <it>TBX1 </it>gene. Our results indicate that <it>TBX1 </it>genetic variants may be associated with CTDs.</p

Ventricular/paraventricular small arteriovenous malformations: role of embolisation with cyanoacrylate

WOS: 000228852600009PubMed ID: 15806431Arteriovenous malformations (AVMs) located in or near to ventricles have proven difficult to treat. We report the safety and efficacy of embolisation of these deep central lesions and describe the contribution of embolisation to multimodality treatment. Fourteen consecutive patients with small ( less than 3 cm) ventricular/paraventricular AVMs arranged for possible embolisation to their nidi. All patients presented with intracranial haemorrhage. The AVMs ranged in size from 10 to 30 mm ( average, 17 mm). Embolisations were performed using liquid adhesive ( cyanoacrylate and iodised oil mixture at a ratio of less than 1: 4) delivered by flow-guided microcatheters with the patient under general anaesthesia. One patient (7.1%) was considered unsuitable for embolisation, and another ( 7.1%) was not able to undergo embolisation because of the morphological features of the AVM feeders, while the remaining 12 could be embolised successfully. Six of 12 patients who underwent embolisation achieved complete occlusion of their AVMs ( overall occlusion rate, 42.9%), while the remaining 6 were embolised partially with a 60 - 95% ( mean = 80%) size reduction. One ( 8%) permanent neurological deficit resulted from embolisation. Endovascular therapy seems to make a significant contribution to the multimodality treatment of small AVMs located in the ventricle or paraventricular deep area. Embolisation alone permits complete cure in a large number of patients. It results in obliteration of a significant volume of the nidus in most of the remaining patients, which makes those nidi more vulnerable to subsequent multimodal therapy

Pre-treatment of anaphylaxis, does it really work?

WOS: 000233719400016PubMed ID: 1631867

Anaesthesia management in Moyamoya disease (a case presentation) [Moyamoya hastaliginda anestezi uygulamasi (olgu sunumu)]

Moyamoya disease is a rare cerebrovascular occlusive disease. We aimed to present two cases of Moyamoya diagnosed patients undergoing general anaesthesia and emphasize important issues about the anaesthetic management of these patients. 28 year old male patient was admitted to the hospital with complaints of weakness in his left arm and leg. Preoperative examination revealed quadriparesia and disturbed consciousness and angiography revealed occlusion in internal carotid arteries bilaterally. Encephaloduroarteriocineangiosis operation was planned. The patient was observed with meticulous noninvasive monitorization. During induction of anesthesia atropine, fentanyl, thiopentone and vecuronium bromide were administered. Anaesthesia was maintained by sevoflurane in oxygen (O2) nitrous oxide (N2O) mixture. End tidal carbondioxide (ETCO2) level was kept between 35-40 mmHg. There was no complication during peroperative and postoperative period. 4.5 year old male child was hospitalized in order to investigate his growth retardation. During his follow up, MRI angiography revealed serious narrowing in cavernous segments of internal carotid arteries bilaterally. Encephaloduroarteriocineangiosis operation was planned. After meticulous noninvasive monitori-zation, induction of anaesthesia was achieved O2+N2O and no complication was observed during the peroperative and postoperative period. During anaesthetic management of these patients, it is crucial to avoid hypocapnia due to hyperventilation and steal phenomenon secondary to hypercapnia. Otherwise ischemia in frontoparietal region which is predominantly involved by Moyamoya disease may adversely affect the prognosis