Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2.

To identify susceptibility loci for schizophrenia, we performed a two-stage genome-wide association study (GWAS) of schizophrenia in the Han Chinese population (GWAS: 746 individuals with schizophrenia and 1,599 healthy controls; validation: 4,027 individuals with schizophrenia and 5,603 healthy controls). We identified two susceptibility loci for schizophrenia at 6p21-p22.1 (rs1233710 in an intron of ZKSCAN4, P(combined) = 4.76 × 10(-11), odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, P(combined) = 6.91 × 10(-12), OR = 0.78; rs2142731 in an intron of PGBD1, P(combined) = 5.14 × 10(-10), OR = 0.79) and 11p11.2 (rs11038167 near the 5' UTR of TSPAN18, P(combined) = 1.09 × 10(-11), OR = 1.29; rs11038172, P(combined) = 7.21 × 10(-10), OR = 1.25; rs835784, P(combined) = 2.73 × 10(-11), OR = 1.27). These results add to previous evidence of susceptibility loci for schizophrenia at 6p21-p22.1 in the Han Chinese population. We found that NKAPL and ZKSCAN4 were expressed in postnatal day 0 (P0) mouse brain. These findings may lead to new insights into the pathogenesis of schizophrenia.

[Experience of diagnosis and treatment for cervical tracheoesophageal fistula complicated with laryngotracheal stenosis].

OBJECTIVE: To explore the treatment of cervical tracheoesophageal fistula (TEF) with complicated or remnant laryngotracheal stenosis (LTS) and anterior neck defect (AND). METHODS: From 1980 to 2007, 14 patients were diagnosed as TEF. Among them, 9 patients had complicated or remnant LTS, 3 patients had complicated AND, and 2 patients had TEF which were induced by Nickel-Titanium alloy mesh stent for treating benign esophageal stricture. All these patients were retrospectively studied in Tangdu Hospital. Treatment consisted of conservative therapy of TEF, staged surgical repair of TEF and laryngotracheal reconstruction according to the dimension (small or large) of TEF and complications. RESULTS: Four patients with small TEF (2 - 3 mm length) complicated LTS underwent laryngotracheal reconstruction stented with silicone T tube and TEF was adopted conservative treatment. The TEF and LTS were healed. Six patients with larger TEF (10 - 25 mm length) were repaired by staged surgical repair of TEF and laryngotracheal reconstruction. Among them, 3 cases had complicated LTS and AND, 2 cases had recent LTS and 1 case had TEF without complication. Two patients had TEF and LTS, whose TEF healed before laryngotracheal reconstruction, the remnant LTS were reconstructed and healed. During the follow-up ranged from one to ten years, 12 patients were successfully treated without complications. One patient with TEF and LTS was treated only LTS because of a segment of esophagus was closed and treated with esophagogastrostomy in the department of thoracic surgery after LTS was successfully reconstructed and cured. One patient died of bleeding and asphyxia induced by the Nickel-Titanium alloy stent because of the stent had not been taken out. CONCLUSION: The small cervical TEF complicated or remnant LTS can be treated by laryngotracheal reconstruction and conservative treatment of TEF at the same time. A larger TEF complicated LTS should be treated by staged repair of TEF and LTS.

[Anteroposterior cricoid split interposition grafting for severe glottic and subglottic stenosis].

OBJECTIVE: To study the effect of anterior and posterior cricoid splitting interposition grafting for severe glottic and subglottic stenosis. METHODS: This is a retrospective study, from 1991 to 2001 years, 25 patients (male 15, female 10, aged 9 to 46 years) with severe glottic and subglottic stenosis were operated with anterior and posterior cricoid splitting interposition grafting method at Tangdu Hospital. All of 25 patients were tracheostomy dependent before reconstruction. 19 patients had previously undergone 1 to 7 (average 2) surgical procedures. The surgical technique consisted of laryngotracheostomy, cricoid lamina midline vertical incision; rib cartilage graft (17 cases), muscular fasciae, perichondrium or split-thickness skin graft (15 cases), pedicle arytenoid cartilage graft (2 cases) and thyroid cartilage graft (1 case) interposition and silicon T-tube stenting for 3 to 6 months. RESULTS: Twenty-four patients (96%) were successfully decannulated and got an effective phonation. One patient failed decannulation. The follow-up period ranged from 1 to 10 years. All of the 24 patients had a stable airway and effective phonation. CONCLUSIONS: The anteroposterior cricoid split interposition graft technique was a safe and effective method for the treatment of severe glottic and subglottic stenosis. Careful split of the cricoid, avoiding injury of esophageal musculature, careful hemostasis, a tight suture graft and using stent were the keys of successful operation.

Long-term results of the sternohyoid myocutaneous rotary door flap for laryngotracheal reconstruction.

In the past 8 years, 45 patients with laryngotracheal stenosis have undergone reconstruction with the sternohyoid myocutaneous rotary door flap (RDF) technique at Tang Du Teaching Hospital in Xi'an, China. All patients were tracheostomy-dependent before reconstruction. Thirty-six patients had previously undergone 2 to 7 surgical procedures. Forty-one of the 45 patients (91%) were successfully decannulated. Decannulation failed in the other 4 because of RDF prolapse into the tracheal lumen or because of hypertrophic scar in the operative region. The follow-up period ranged from 1 to 8 years. Forty of the 41 patients had a stable airway and effective voice, and 1 patient had restenosis 3 years after decannulation. The results demonstrate that the RDF technique is a relatively simple and effective way to treat patients with laryngotracheal stenosis.