X‐linked Charcot‐Marie‐Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene

Charcot‐Marie‐Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene have been found to cause X‐linked dominant CMT type 6 (CMTX6). This study identified the p.R158H PDK3 mutation after screening 67 probable X‐linked CMT families. The mutation fully segregated with the phenotype, and genotyping the family indicated the mutation arose on a different haplotype compared with the original Australian CMTX6 family. Results of bisulphite sequencing suggest that methylated deamination of a CpG dinucleotide may cause the recurrent p.R158H mutation. The frequency of the p.R158H PDK3 mutation in Koreans is very rare. Magnetic resonance imaging revealed fatty infiltration involving distal muscles in the lower extremities. In addition, fatty infiltrations were predominantly observed in the soleus muscles, with a lesser extent in tibialis anterior muscles. This differs from demyelinating CMT1A patients and is similar to axonal CMT2A patients. The clinical, neuroimaging, and electrophysiological findings from a second CMTX6 family with the p.R158H PDK3 mutation were similar to the axonal neuropathy reported in the Australian family.     

Reappraisal of Percutaneous Transhepatic Biliary Drainage Tract Recurrence After Resection of Perihilar Bile Duct Cancer

Background

The high incidence of percutaneous transhepatic biliary drainage (PTBD) tract recurrence after resection of perihilar bile duct cancer (BDC) at a reference single center has suggested the need for endoscopic biliary drainage (EBD) to prevent PTBD-related tumor recurrence. To determine the general applicability of these findings, we validated the risk of PTBD tract recurrence in patients with resected BDC in our high-volume center.

Methods

The medical records of 306 patients with perihilar BDC who underwent hepatobiliary resection with curative intent over 10?years were reviewed retrospectively.

Results

Of the 306 patients, 293 (95.8%) underwent biliary decompression, 171 (56.1%) by preoperative PTBD, 62 (20.3%) by EBD alone, and 60 (19.7%) by both. Of the 231 patients who underwent PTBD, 160 (69.3%), 62 (26.8%), and 9 (3.9%) had one, two, or three catheters, respectively (mean of 1.3 catheters per patient for a median 23?days). No patient experienced synchronous PTBD tract metastasis, whereas 4 (1.7%) experienced PTBD tract recurrence a median 13.5?months after surgery, with 3 of these patients having an intraabdominal recurrence soon afterward. Only one patient had a solitary tract recurrence without intraabdominal metastasis. These patients survived for a median 25?months, which is comparable to survival outcomes after noncurative resection. No risk factor was significantly associated with PTBD tract recurrence.

Conclusions

We think that the risk of PTBD tract recurrence after resection of perihilar BDC is not negligible but is much lower than previously reported. There is no definitive reason to avoid PTBD when it is indicated.     

Improvement of Nonalcoholic Fatty Liver Disease After Bariatric Surgery in Morbidly Obese Chinese Patients

Background

Obesity is a risk factor for nonalcoholic fatty liver disease (NAFLD), which appears to improve after weight loss induced by bariatric surgery in Western countries. The present study aims to determine the alterations of clinical measurements and liver histology of NAFLD after bariatric surgery in morbidly obese Chinese patients.

Methods

Between November 2006 and December 2007, 21 morbidly obese patients receiving intra-operative liver biopsy and follow-up liver biopsy 1?year after laparoscopic Roux-en-Y gastric bypass were enrolled. NAFLD activity score (NAS) and fibrosis stage were histologically evaluated.

Results

The mean body mass index fell from 43.8?±?7.5 to 28.3?±?4.6?kg/m² (P?P?P?<?0.01), but not aspartate aminotransferase (P?=?0.66). Histological improvement was noted in NAS (P?P?P?P?=?0.02). Pre-operatively, 4 (19.0%), 11 (52.4%), and 6 (28.6%) patients were found to have NAS ?R5, 3 or 4, and ?Q2, respectively. All patients had NAS ?Q2 after surgery. Fibrosis stage also showed significant improvement (P?Conclusions Bariatric surgery can achieve a dramatic improvement of NAFLD both biochemically and histologically in morbidly obese Chinese patients.     

Purine anti-metabolite attenuates nuclear factor κB and related pro-inflammatory cytokines in experimental vasospasm

Background

Increased nuclear factor κB (NF-κB) bioexpression, as well as TNF-α, IL-1β and IL-6 levels, were observed after aneurysmal subarachnoid hemorrhage (SAH). It is of interest to investigate the effect of 6-mercaptopurine (6-mp) on cytokines/NF-κB in this SAH model.

Materials and methods

A rodent double-hemorrhage SAH model was employed. Serum and cerebrospinal fluid (CSF) samples were collected to examine IL-1, IL-6 and TNF-α levels. NF-κB subunit p65 and its inhibitor of nuclear factor κB (IκB) were examined (by Western blot). TNF-α was used to induce the phosphorylation of IκB in the presence or absence of 6-mp.

Results

Nuclear NF-κB subunit p65/IκB kinase in the basilar artery was over-expressed, and cytokines was notably increased in the SAH groups, compared with the controls (P?P?Conclusions Through inhibiting IκB bioexpression, 6-mp decreases NF-κB-related IL-1β, IL-6, and TNF-α in the presence of SAH. The study suggests 6-mp exerts vascular anti-inflammatory properties through inhibiting IκB kinase and subsequently blocks bio-activation of NF-κB and related cytokines, which may contribute to its antivasospastic effect in animals subjected to SAH.     

Revisiting vascular patency after spleen-preserving laparoscopic distal pancreatectomy with conservation of splenic vessels

Background

We evaluated vascular patency and potential changes in preserved spleens after laparoscopic spleen-preserving distal pancreatectomy (SPDP) with conservation of both splenic vessels.

Methods

We retrospectively analyzed the patency of conserved splenic vessels in patients who underwent laparoscopic or robotic splenic vessel-conserving SPDP from January 2006 to August 2010. The patency of the conserved splenic vessels was evaluated by abdominal computed tomography and classified into three grades according to the degree of severity.

Results

Among 30 patients with splenic vessel-conserving laparoscopic SPDP, 29 patients with complete follow-up data were included in this study. During the follow-up period (median: 13.2?months), grades 1 and 2 splenic arterial obliteration were observed in one patient each. A total of five patients (17.2%) showed grade 1 or 2 obliteration in conserved splenic veins. Most patients (82.8%) had patent conserved splenic vein. Four patients (13.8%) eventually developed collateral venous vessels around gastric fundus and reserved spleen, but no spleen infarction was found, and none presented clinical relevant symptoms, such as variceal bleeding. There was no statistical difference in vascular patency between the laparoscopic and robotic groups (P?>?0.05).

Conclusions

Most patients showed intact vascular patency in conserved splenic vessels and no secondary changes in the preserved spleen after laparoscopic splenic vessel-conserving SPDP.     

Safety and efficacy of a quinolone-based regimen for treatment of tuberculosis in renal transplant recipients

Background

Rifampin (RFP) is a first-line antituberculosis drug, but it increases the risk of acute rejection (AR) in transplant recipients. This study evaluated whether quinolone (QNL) can replace RFP in renal transplant recipients with tuberculosis.

Methods

One hundred nine patients with active tuberculosis were included. Patients consisted of RFP (n = 91) and QNL (n = 18) groups based on the initial treatment regimen. Patients with RFP-associated adverse effects were subdivided into RFP-maintenance (RFP-M; n = 18) and QNL-conversion (QNL-C; n = 8) groups. Clinical outcomes were compared between groups.

Results

The incidence of AR was higher in the RFP group than in the QNL group (24.2% vs 5.6%). The QNL group showed significantly higher 10-year graft survival rates than the RFP group (88.1% vs 66.5%; P = .022). The QNL-C group showed significantly higher 10-year graft survival rates than the RFP-M group (87.5% vs 27.8%; P = .011). The rate of complete functional recovery after AR was higher in the QNL-C group than in the RFP-M group (50% vs 22.2%).

Conclusions

A QNL-based regimen may be safe and effective for treatment of tuberculosis and may lower the risk of graft failure in renal transplant recipients.     

Clinicopathologic analysis of surgically proven intraductal papillary mucinous neoplasms of the pancreas in SNUH: a 15-year experience at a single academic institution

Purpose  

The clinical importance of intraductal papillary mucinous neoplasm of the pancreas (IPMN) has been increasing with a large number of newly diagnosed IPMN. This study was designed to explore the characteristics of resected IPMN and to determine the predictive factors for malignant and invasive IPMN.     

Urologic complications of laparoscopic radical hysterectomy and lymphadenectomy

Introduction and hypothesis

The purpose of this study was to evaluate the intra- and postoperative urologic complications and management in patients with cervical or endometrial cancer treated with laparoscopic radical hysterectomy and lymphadenectomy.

Methods

We retrospectively reviewed the medical records of 146 patients with cervical or endometrial cancer who underwent total laparoscopic radical hysterectomy with lymphadenectomy between August 2002 and April 2011. The intra- and postoperative urologic complications were analyzed.

Results

Double ureteral stents were inserted prophylactically in 13 patients (8.9?%), 2 of whom had postoperative urologic complications. Nine patients (6.2?%) had postoperative urologic complications. Of four patients with ureterovaginal fistulas, two were treated conservatively with cystoscopic placement of ureteral stents and two underwent ureteroneocystostomies. Vesicovaginal fistulas occurred in two patients, both of whom underwent vesicovaginal fistula repairs. One patient noted to have a bladder injury intraoperatively had a laparoscopic repair, and one patient noted to have a ureteral injury postoperatively was treated conservatively with cystoscopic placement of ureteral stents.

Conclusions

Iatrogenic lower urinary tract injuries during laparoscopic radical hysterectomy are relatively common complications. Intraoperative prophylactic ureteral stent insertion and the early detection of urologic complications postoperatively is advised for patients who undergo laparoscopic radical hysterectomies.     

Association of metabolic syndrome, atherosclerosis risk factors, sex hormones in ED in aboriginal Taiwanese

The overall prevalence of metabolic syndrome (MS) in aboriginal male Taiwanese is very high. Many studies have found that those with cardiovascular disease and MS have a significantly higher risk of ED. In this study, we attempted to find the correlation among MS risk factor, atherosclerosis risk factors and low serum testosterone in relation to the development of ED. This was a cross-sectional study of 238 cases, and collected data included demographic data, lifestyle questionnaires, sexual desire scale, sexual satisfaction scale and International Index of Erectile Function (IIEF) questionnaire. Among our 238 subjects, 146 had MS (61.3%) and 114 subjects with MS had ED (85.7%). Using age-adjusted multivariate logistic regressive analysis, this study showed that aboriginal males with ED had a significantly higher prevalence of MS (OR=12.02, 95% confidence intervals (CI): 6.33-22.83, P<0.001). Among the MS components, abnormal fasting blood sugar was the most significantly independent factor for ED in aboriginal males (OR=8.94, 95% CI: 4.71-16.97, P<0.001). The presence of MS had a significant correlation with lower IIEF-5 scores, lower sexual desire scores, lower testosterone serum level (P<0.01) and abnormal interleukin-6 (IL-6) and high sensitivity C-reactive protein (HsCRP). The results of this study support the idea that MS, low serum testosterone and HsCRP may predict ED in aboriginal Taiwanese males. Further studies with population-based and longitudinal design should be conducted to confirm this finding and design to compare rates of ED in aboriginal men with MS.     

Single-fulcrum laparoscopic cholecystectomy: a single-incision and multi-port technique

Background: Single-incision laparoscopic cholecystectomy (LC) is still technically demanding and usually requires specially designed instruments. This article describes our own technique, a single-fulcrum LC using only standard ports and instruments. Methods: Between March 2009 and December 2010, 130 consecutive patients, all scheduled to undergo elective LC, underwent this single-fulcrum LC for benign gallbladder disease. Perioperative surgical outcomes were retrospectively evaluated. Results: One hundred and ten patients (84.6%) underwent successful single-fulcrum LC, and 20 patients (15.4%) were converted to conventional surgery (n= 18) or required additional trocars (n= 2) during the procedure because of umbilical hernia (n= 3), severe inflammation or adhesion (n= 9), impacted cystic duct stone (n= 3), anatomical anomaly (n= 3) and iatrogenic injury (n= 2). Two intraoperative complications (iatrogenic injury) were securely managed using additional trocars and there was no post-operative morbidity or mortality. This single-fulcrum LC could be performed with comparable cost to conventional LC, and the sequential operative time showed reasonable learning curve. Conclusion: Single-fulcrum LC is feasible, safe and quite reproducible. The surgical wound can be dramatically reduced at a similar cost to conventional LC. It may be an alternative procedure for most uncomplicated benign gallbladder disease.