Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.

Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A11 are responsible for this rare genetic syndrome. Eight patients from seven unrelated families affected with Harboyan Syndrome with mean follow-up of 12.0 ± 0.9 years were thoroughly investigated for the ocular, hearing, and kidney function abnormalities and the outcome of penetrating keratoplasty (PK). Mutation analysis of SLC4A11 was performed. All patients presented with bilateral cloudy corneas since birth. Sensorineural hearing loss was detected in all patients. Seven patients (11 eyes) underwent PK with the median age at surgery of 10.1 years (7.1-22.9). The overall corneal graft survival rate after primary PK was 72.7% (8/11 eyes). The mean graft survival time was 94.6 months (95% CI 83.1-126.0). All patients had unremarkable kidney function. The c.2264G>A (p.Arg755Gln) mutation in SCL4A11 was detected in most patients (87.5%). All unrelated Karen tribe patients had p.Arg755Gln mutation, suggestive of founder effect. We found the allele frequency of this variant in the Karen population to be 0.01. The c.2263C>T (p.Arg755Trp) mutation was found in one patient with mild phenotype and the novel truncating protein mutation c.2127delG (p.Gly710fsx*25) in SCL4A11 was identified in two Thai sisters. Visual outcome and graft survival after PK were satisfactory. Our study shows that all studied patients with SLC4A11 mutations had CHED and sensorineural hearing loss, and SLC4A11 mutations were not related to the onset and severity of hearing loss or outcome of keratoplasty.

Endoscopic features of early-stage signet-ring-cell carcinoma of the stomach.

AIM: To identify the features of early signet ring cell gastric carcinoma using magnification endoscopy with narrow band imaging (NBI). METHODS: A retrospective review was conducted of 12 cases of early signet ring cell gastric carcinoma who underwent treatment in a single institution between January 2009 and April 2013. All patients had magnification endoscopy with NBI and indigo carmine contrast to closely examine the mucosal architecture, including the microvasculature and arrangement of gastric pits. Histologic examination of the final endoscopic submucosal dissection or gastrectomy specimen was performed and compared with the endoscopic findings to identify patterns specific to signet ring cell carcinoma. RESULTS: Twelve patients with early signet ring cell gastric carcinoma were identified; 75% were male, and average age was 61 years. Most of the lesions were stage T1a (83%), while the remainder were T1b (17%). The mean lesion size was 1.4 cm(2). On standard endoscopy, all 12 patients had a pale, flat lesion without any evidence of mucosal abnormality such as ulceration, elevation, or depression. On magnification endoscopy with NBI, all of the patients had irregularities in the glands and microvasculature consistent with early gastric cancer. In addition, all 12 patients exhibited the "stretch sign", an elongation or expansion of the architectural structure. Histologic examination of the resected specimens demonstrated an expanded and edematous mucosal layer infiltrated with tumor cells. CONCLUSION: The "stretch sign" appears to be specific for signet ring cell carcinoma and may aid in the early diagnosis and treatment of this aggressive pathology.

Outcomes of endoscopic sphincteroplasty using large balloon dilatation for difficult common bile duct stone removal: a single endoscopist experience.

OBJECTIVE: Endoscopic sphincteroplasty (ESPT) using a large CRETM Wireguided balloon dilatation is an alternative technique in removing a difficult common bile duct (CBD) stone. However the outcome and complications of endoscopic difficult CBD stone removal using ESPT have not been well demonstrated. The present study revealed the outcome of the technique which done by a single endoscopist. MATERIAL AND METHOD: Between January 2003 and December 2009, the retrospective study of ninety-three patients with CBD stones that underwent endoscopic retrograde cholangiopancreaticography (ERCP) for stone removal and had difficulty were enrolled. ESPT using a large CRE Wireguided balloon dilatation was performed in 62 patients. The success rate of complete stone clearance and post ERCP complications were analyzed RESULTS: In the aspect of complete stone removal, the success rate was 88.7%. Seven patients (11.3%) required adjunctive mechanical lithotripsy (ML) for complete stone clearance. This technique was associated with low complication rate (3.2%). Post ERCP bleeding was found in one patient (1.6%) with ESPT using a large CRE balloon dilatation. Mild post-ERCP pancreatitis occurred in only one patient. CONCLUSION: ESPT using large diameter CRE Wireguided balloon dilatation after biliary sphinctertomy is an effective technique for a difficult CBD stone removal associated with a lower rate of complications. This procedure can avoid unnecessary surgical CBD exploration for stone removal.

Peroral endoscopic myotomy for esophageal achalasia.

Peroral endoscopic myotomy (POEM) is one of the alternative treatment for achalasia. Due to concept of natural orifice transluminal endoscopic surgery (NOTES), it becomes popular and widely accepted. With the endoluminal technique, submucosal tunnel was created followed by endoscopic myotomy. POEM is not only indicated in classical achalasia but also other abnormal esophageal motility disorders. Moreover, failures of endoscopic treatment or surgical attempted cases are not contraindicated for POEM. The second attempted POEM is also safe and technically feasible. Even though the legend of success of POEM is fruitful, the possible complications are very frightened. Good training and delicate practice will reduce rate of complications. This review provides a summary of current state-of-the-art of POEM, including indication equipments, technique and complications. This perfect procedure may become the treatment of choice of achalasia and some esophageal motility disorders in the near future.