Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

We explored an approach to detect disease-causing sequence variants in 448 candidate genes from five index cases of autosomal dominant retinitis pigmentosa (adRP) by sequence DNA capture and next-generation DNA sequencing (NGS). Detection of sequence variants was carried out by sequence capture NimbleGen and NGS in a SOLiD platform. After filtering out variants previously reported in genomic databases, novel potential adRP-causing variants were validated by dideoxy capillary electrophoresis (Sanger) sequencing and co-segregation in the families. A total of 55 novel sequence variants in the coding or splicing regions of adRP candidate genes were detected, 49 of which were confirmed by Sanger sequencing. Segregation of these variants in the corresponding adRP families showed three variants present in all the RP-affected members of the family. A novel mutation, p.L270R in IMPDH1, was found to be disease causing in one family. In another family a variant, p.M96T in the NRL gene was detected; this variant was previously reported as probably causing adRP. However, the previously reported p.A76V mutation in NRL as a cause of RP was excluded by co-segregation in the family. We discuss the benefits and limitations of our approach in the context of mutation detection in adRP patients.

Sialendoscopy: a new diagnostic and therapeutic tool.

BACKGROUND: Sialendoscopy is a recently developed minimally invasive diagnostic and therapeutic procedure for the management of obstructive diseases of the salivary glands. This report describes our early experience with this new tool and compares our results with the literature data. MATERIAL AND METHODS: This was a retrospective analysis of the 33 first cases treated at a teaching hospital from October 2009 to June 2011. RESULTS: The success rate for diagnostic sialendoscopy was 94%. Sialolithiasis was found in 19 cases and salivary duct stenosis in 11; no canal anomaly was found in two cases. The success rate for stone removal was 79%, while treatment of strictures failed in four cases. Longer surgical experience led to shorter operating times and improved indications as well as better therapeutic outcomes. There were no complications. CONCLUSION: Sialendoscopy is a safe technique that can easily be learned by surgeons familiar with endoscopic surgery. However, practical experience is needed to reduce operating times, lower failure rates and determine its precise indications.

Transoral robotic surgery in head and neck cancer.

Robots have invaded industry and, more recently, the field of medicine. Following the development of various prototypes, Intuitive Surgical® has developed the Da Vinci surgical robot. This robot, designed for abdominal surgery, has been widely used in urology since 2000. The many advantages of this transoral robotic surgery (TORS) are described in this article. Its disadvantages are essentially its high cost and the absence of tactile feedback. The first feasibility studies in head and neck cancer, conducted in animals, dummies and cadavers, were performed in 2005, followed by the first publications in patients in 2006. The first series including more than 20 patients treated by TORS demonstrated the feasibility for the following sites: oropharynx, supraglottic larynx and hypopharynx. However, these studies did not validate the oncological results of the TORS technique. TORS decreases the number of tracheotomies, and allows more rapid swallowing rehabilitation and a shorter length of hospital stay. Technical improvements are expected. Smaller, more ergonomic, new generation robots, therefore more adapted to the head and neck, will probably be available in the future.

[Salivary stones and stenosis. A comprehensive classification]. / Lithiases et sténoses salivaires. Une classification pratique des pathologies non tumorales.

INTRODUCTION: Sialendoscopy and sialo-MRI enable diagnosis of salivary gland obstructive pathologies, such as lithiasis, stenosis and dilatations. Therefore, a classification of these pathologies is needed, allowing large series comparisons, for better diagnosis and treatment of salivary pathologies. MATERIAL AND METHODS: With help from people from the European Sialendoscopy Training Center (ESTC), the results of sialographies, sialoMRI and sialendoscopies, a comprehensive classification of obstructive salivary pathologies is described, based on the absence or presence of lithiasis (L), stenosis (S) and dilatation (D) ("LSD" classification). DISCUSSION: It appears that a classification of salivary gland obstructive pathologies should be described. We hope it will be widely used and of course criticized to be improved and to compare the results of salivary gland diagnostic methods, such as sialography and sialendoscopy and also the results and indications for salivary gland therapeutic methods, such as lithotripsy, sialendoscopy and/or open surgery.

Salivary stones and stenosis. A comprehensive classification.

INTRODUCTION: Sialendoscopy and sialoMRI enables diagnosis of salivary gland obstructive pathologies, such as lithiasis, stenosis, and dilatations. Therefore, a classification of these pathologies is needed, allowing large series comparisons, for better diagnosis and treatment of salivary pathologies. MATERIAL AND METHODS: With help from people from the European Sialendoscopy Training Center (ESTC), the results of sialographies, sialoMRI and sialendoscopies, a comprehensive classification of obstructive salivary pathologies is described, based on the absence or presence of lithiasis (L), stenosis (S), and dilatation (D) ("LSD" classification). DISCUSSION: It appears that a classification of salivary gland obstructive pathologies should be described. We hope it will be widely used and of course criticized to be improved and to compare the results of salivary gland diagnostic methods, such as sialography and sialendoscopy, and also the results and indications for salivary gland therapeutic methods, such as lithotripsy, sialendoscopy, and/or open surgery.

[Primary malignant tumors of the lacrimal sac and nasolacrimal duct]. / Les tumeurs malignes primitives des voies lacrymales.

OBJECTIVES: To assess the clinical characteristics, the workup, therapeutic approach and pathological findings of primitive tumors of the lacrimal sac. MATERIAL AND METHODS: Three cases were retrospectively reviewed from the database of our ENT department. They were analyzed and compared to cases reported in the literature. RESULTS: One adenoid cystic carcinoma and two adenocarcinomas were observed, all were adults and the sex ratio was one man for 2 women. Clinically they presented neither significant lacrimal or rhinologic sign. A CT-scan and a MRI were performed along with a physical examination. An entire surgical resection was done with subsequent postoperative radiotherapy. Two patients died, and one is alive, free of disease. CONCLUSION: Lacrimal tumors should be considered in the differential diagnosis of a banal chronic epiphora. The ENT practitioner must associate this factor to any clinical evaluation. The management of these lesions requires a complete surgical resection, routinely associated with postoperative radiation.