Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor

We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the PTCH1 gene (c.3450C>G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog inhibitor in Taiwan. The lesions regressed gradually, with scar formation, and were subsequently removed via a wide excision. Further details are provided below.

Comparative genomics reveals diverse capsular polysaccharide synthesis gene clusters in emerging Raoultella planticola

Raoultella planticola is an emerging zoonotic pathogen that is associated with rare but life-threatening cases of bacteremia, biliary tract infections, and urinary tract infections. Moreover, increasing antimicrobial resistance in the organism poses a potential threat to public health. In spite of its importance as a human pathogen, the genome of R. planticola remains largely unexplored and little is known about its virulence factors. Although lipopolysaccharides has been detected in R. planticola and implicated in the virulence in earlier studies, the genetic background is unknown. Here, we report the complete genome and comparative analysis of the multidrug-resistant clinical isolate R. planticola GODA. The complete genome sequence of R. planticola GODA was sequenced using single-molecule real-time DNA sequencing. Comparative genomic analysis reveals distinct capsular polysaccharide synthesis gene clusters in R. planticola GODA. In addition, we found bla TEM-57 and multiple transporters related to multidrug resistance. The availability of genomic data in open databases of this emerging zoonotic pathogen, in tandem with our comparative study, provides better understanding of R. planticola and the basis for future work.

Clinical research on application of epidural and subcutaneous multimodal analgesia in thoracotomy esophageal cancer operation / 重庆医学

Objective To study the analgesia effect and adverse reactions of epidural and subcutaneous multimodal analgesia in thoracotomy esophageal cancer resection operation .Methods Forty patients undergoing elective esophageal cancer resection op‐eration were randomly divided into the epidural and subcutaneous analgesia group (group A) and the subcutaneous analgesia group (group B) ,20 cases in each group .The group A adopted 0 .15% ropivacaine and 0 .00002% sufentanil by continuous pumping infu‐sion before and during operation for continuous analgesia ,then intravenous tramadol was given before closing chest ,tramadol and sufentanil subcutaneous patients self‐control analgesia (PCA)were used after operation for analgesia .The group B was given intra‐venous tramadol before closing chest ,then tramadol and sufentanil patient subcutaneous controlled analgesia after operation were used for analgesia .The scores of the visual analogue scale(VAS) ,comfort scale ,sedative scores ,dose of analgesics ,pressing fre‐quency and pressing frequency ratio of PCA ,vital signs and adverse reactions were assessed at different time periods .Results The VAS scores and pressing frequency of PCA at rest and movement in the group A were remarkably decreased compared with the group B ,while the comfort status score and pressing frequency ratio of PCA were obviously increased ,the differences were statisti‐cally significant(P<0 .05);the occurrence rates of adverse reactions such as the vital signs ,sedative scores ,nausea ,vomitting ,skin itch ,chest distress after operation had no statistically significant differences between the two groups .Conclusion Epidural and sub‐cutaneous multimodal analgesia is a better multimodal analgesia scheme in thoracotomy esophageal cancer resection operation .

Window partial laryngectomy for the treatment of stage T2-3 glottic laryngeal carcinoma / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the operative effect and value of window partial laryngectomy for the treatment of stage T2-3 glottic laryngeal carcinoma.</p><p><b>METHODS</b>From Oct. 2000 to Dec. 2006, the stage T2-3 glottic laryngeal carcinoma of 48 patients by properly selected were performed with window partial laryngectomy and laryngeal reconstruction. Twenty nine males and 19 females were included. Their ages ranged from 43 to 78 years (median 57.0 years). Before operation and in the 6 months after operation, these targets including auditory mental evaluation of hoarse degree, active degree and symmetry of vocal cord, glottic width in the time of quiet breathing, glottic closing degree in the time of phonating, respiratory function and swallowing function were surveyed. In addition, the things of recurrence and metastasis of tumors together with survival time of patients were following investigated.</p><p><b>RESULTS</b>All patients were decannulated successfully and incisions were healed smoothly. No operative complication occurred. Except active degree of vocal cord (P = 0.343), there were respectively significant difference between two group targets of auditory mental evaluation of hoarse degree (all P <0.01), symmetry of vocal cord (P = 0.000), glottic width in the time of quiet breathing (P = 0. 001), glottic closing degree in the time of phonating (P = 0.001) and respiratory function (P=0.001) those were investigated before operation and after operation. The swallowing function wasn't influenced (P= 0.310). There were laryngostenosis in 1 case, recurrence in 1 case (2.1%), cervical lymph node metastasis in 1 case and hepatic metastasis in 1 case. Two cases died. 3-year and 5-year overall survival rate were respectively 96.9% and 88.9%.</p><p><b>CONCLUSIONS</b>The study showed that window partial laryngectomy was successful for treating stage T2-3 glottic laryngeal carcinoma by properly selected. This operation was effective for reducing surgical invasion and beneficial to resume respiratory and vocal function.</p>

Diagnosis and treatment of serious pediatric airway obstruction / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the diagnosis and treatment of serious pediatric airway obstruction.</p><p><b>METHODS</b>Seventy three pediatric cases with serious airway obstruction, admitted to Shantou hospital from 1995 to 2005, were analyzed retrospectively.</p><p><b>RESULTS</b>Among the 73 cases, 28 cases (38.4%) with inflammatory disease and 33 cases (45.2%) with foreign body. In addition, 8 cases of laryngeal papilloma, 3 cases of laryngotracheobronchial spasm and 1 case of pharyngeal dysembryoma were also included in this study. The patients who had endotracheal intubation or tracheotomy were 39 cases (53.4%) and 27 cases (36.9%) respectively. Ten cases received non-surgery treatment. Seventy two cases diagnosis was confirmed and the related serious airway obstruction condition got stable within 12 hours. While serious complications occurred in 23 cases (31.5%) and operative complications occurred in 3 cases (4.1%). Four cases ( 5.5%) died and 68 cases (93.2%) were cured. One case refused to be treated.</p><p><b>CONCLUSIONS</b>The condition of serious pediatric airway obstruction patients is usually critical, the related causes could be complicated, quick diagnosis and timely removal of the obstruction factors are imperative.</p>

The treatment of acoustic neuroma with microsurgery by retrosigmoid approach / 中华显微外科杂志

Objective To investigate the operative methods and clinical significance of the treatment for large acoustic ncuroma with microsurgery by retrosigmoid approach.Methods 15 cases of large acoustic neuroma treated with microsurgery by retrosigmoid approach were systematic analyzed,including the operative approach,microsurgical technique,disposal after operation,prevention and cure of complications.Results Tumors were totally removed in 12 cases and were subtotally removed in 3 cases.Facial nerve was kept ana- tomic intact in 13 cases(86.7%) and acoustic nerve was kept anatomic intact in 6 cases(40.0%).The short period complications happened in 3 cases and no patient died in this series.Conclusion Treatment for large acoustic neuroma with microsurgery by retrosigmoid approach is a safe method,which give small hurt brain tissue and benefit to increase the total removal rate and protect effectively the function of facial nerve and acoustic nerve.