Burapat Sangthong

Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients

AbstractMutation and polymorphism data for Hirschsprung disease (HSCR) varies among ethnic groups. Single nucleotide polymorphisms (SNP) of RET proto-oncogene (RET) were recently shown to be associated with the disease, and with disease severity, in different populations. In this study, comprehensive analysis of RET, GDNF, EDNRB, ET-3, and SOX-10 genes among sporadic HSCR in Thailand was conducted by standard PCR-SSCP, RFLP, and sequencing methods. Of 41 patients, 30 cases had rectosigmoid disease (RSD) and 11 cases were assigned to the long-segment disease (LSD) group. Four missense mutations of RET, S100M, R231H, T278N, and G533S, were identified in three patients. One novel missense mutation, V111Q, was detected in EDNRB. For ET-3, two novel missense mutations, D166E and C173R, occurred concomitantly in a patient. The incidence of missense mutation was significantly higher in our female HSCR patient than in the male counterpart. Statistical analysis of the SNPs revealed a significant difference between allele distribution of RET L769L in patients in the LSD and RSD groups. The predominant genotype construct of RET A45A/L769L in our HSCR was GG/GG, which is obviously different from results from all previous studies. The GG/GG genotype construct was associated with RSD and with males. The study also detected a variant allele of RET S836S which has never been reported in Asian cohorts.

Results of gastric pull-up reconstruction for pharyngolaryngo-oesophagectomy in advanced head and neck cancer and cervical oesophageal squamous cell carcinoma.

OBJECTIVE To study long-term clinical swallowing function and survival outcome in head and neck and cervical oesophageal cancer patients who underwent pharyngolaryngo-oesophagectomy (PLE). METHODS The clinical data of 48 patients who were treated with PLE were analysed. All patients had advanced disease, so the construction required a transposed stomach. Body weight and clinical swallowing function were evaluated postoperatively. The swallowing function was assessed at an interview concerning food ingestion and regurgitation. The survival group was studied using a Kaplan-Meier survival curve. RESULTS Forty-one cases of hypopharyngeal cancer and four cases of cervical oesophageal cancer were studied. In three cases (6%), hypopharyngeal and thoracic oesophageal squamous cell carcinoma occurred together. Most cases had good-to-fair results. The average body weight gain was increased after surgery. There was one hospital death. The most common complications were pulmonary (4%). Median survival was 27 months. CONCLUSION A pharyngogastric anastomosis after PLE can be performed with low morbidity and good swallowing function.

Rotational thromboelastometry in the diagnosis of coagulopathy in major pediatric surgical operations

OBJECTIVES To examine the correlation between rotational thromboelastometry (ROTEM) and coagulopathy after major pediatric surgical operations. METHODS From November 2013 until April 2015, pediatric cases who underwent major noncardiac surgeries and met the coagulopathy-risk criteria were reviewed for postoperative clinically significant coagulopathy (CSC). Two ROTEM studies, EXTEM and INTEM, were performed at the immediately postoperatively without the results being taken into any clinical decision making. RESULTS Seventy-seven operations on 73 patients were included in this analysis. CSC occurred following 24 operations (32%) with a significantly higher incidence when a patient had a higher coagulopathy risk. On univariate analysis, evidence of diffuse bleeding in the operative field and massive bleeding were the 2 parameters with the strongest association with CSC. INTEM and EXTEM had specificities in diagnosing CSC of 75.5% and 94.3%, respectively. When each individual EXTEM and INTEM item was analyzed against CSC using ROC analysis, clot forming time (CFT) gave the largest under the curve area. The cut-off CFTs that gave the highest sensitivity and specificity in this study were 120seconds for EXTEM and 100seconds for INTEM. CONCLUSION Postoperative coagulopathy is a risk that should always be considered in pediatric surgical operations. Thromboelastometry can be a hemostatic test providing high predictive value for this condition.

Prediction score for effective bleeding control using recombinant activated factor VII in perioperative nonhemophilic patients

BACKGROUND Although there has been growing evidence from off-label use of recombinant activated factor VII (rFVIIa) in surgical bleeding, there is limited information on prediction scores. METHODS A retrospective study was conducted from 2004 to 2009. The primary outcome was efficacy of bleeding control. Multivariate logistic regression was performed to develop a new prediction score for success of rFVIIa. RESULTS A total of 320 bleeding episodes from 243 nonhemophilic patients who underwent surgery were analyzed. Effective bleeding control was demonstrated in 153 patients. The overall in-hospital mortality rate was 40%. Multivariate analysis identified 4 independent predictors for effective bleeding control: timing of rFVIIa administration, intraoperative blood loss, postoperative international normalization ratio values, and total units of platelets transfused. A rFVIIa success prediction score was developed. CONCLUSIONS The use of this new prediction score may support decision making by identifying patients with a high probability of obtaining effective bleeding control from rFVIIa therapy.

Combination of blood lactate level with assessment of blood consumption (ABC) scoring system: A more accurate predictor of massive transfusion requirement

Purpose Exsanguination is the most common leading cause of death in trauma patients. The massive transfusion (MT) protocol may influence therapeutic strategies and help provide blood components in timely manner. The assessment of blood consumption (ABC) score is a popular MT protocol but has low predictability. The lactate level is a good parameter to reflect poor tissue perfusion or shock states that can guide the management. This study aimed to modify the ABC scoring system by adding the lactate level for better prediction of MT. Methods The data were retrospectively collected from 165 trauma patients following the trauma activated criteria at Songklanagarind Hospital from January 2014 to December 2014. The ABC scoring system was applied in all patients. The patients who had an ABC score ≥2 as the cut point for MT were defined as the ABC group. All patients who had a score ≥2 with a lactate level >4 mmol/dL were defined as the ABC plus lactate level (ABC + L) group. The prediction for the requirement of massive blood transfusion was compared between the ABC and ABC + L groups. The ability of ABC and ABC + L groups to predict MT was estimated by the area under the receiver operating characteristic curve (AUROC). Results Among 165 patients, 15 patients (9%) required massive blood transfusion. There were no significant differences in age, gender, mechanism of injury or initial vital signs between the MT group and the non-MT group. The group that required MT had a higher Injury Severity Score and mortality. The sensitivity and specificity of the ABC scoring system in our institution were low (81%, 34%, AUC 0.573). The sensitivity and specificity were significantly better in the ABC + L group (92%, 42%, AUC = 0.745). Conclusion The ABC scoring system plus lactate increased the sensitivity and specificity compared with the ABC scoring system alone.