The missing link.

We present a case of a 28-year old woman who presented with bizarre wheezing breath sounds on expiration and dysphagia, with unexplained significant dilation of the esophagus mimicking achalasia finally leading to the diagnosis of a very small congenital tracheoesophageal fistula (TEF). Congenital TEF is usually detected shortly after birth and is typically accompanied by esophageal atresia. Congenital TEF without esophageal atresia (H-type fistula) can be missed in early life and diagnosis may be postponed until adulthood due to subtle symptoms. Diagnosis is usually based upon a combination of esophagoscopy, bronchoscopy, barium esophagography and CT-scan. The only clue can be the finding of a significant dilated aperistaltic esophagus, with subsequent more detailed CT reconstruction revealing a very tiny H-type TEF. It is important to raise the awareness of small H-type TEF as a possible cause of achalasia-like esophageal dilation in adulthood and of very unusual and bizarre wheezing breath sounds.

Chiasmal optic neuritis in a 4-year-old girl: a case report and review of the literature.

We report a 4-year-old girl presenting with sudden severe bilateral visual loss. Ophthalmological examination revealed optic disc pallor. Further neurological examination was normal. Brain magnetic resonance imaging (MRI) suggested chiasmal optic neuritis, and further etiological investigations were negative. We review the literature on the incidence and underlying etiology of chiasmal optic neuritis in childhood.

[Cranial nerve functional neurosurgery: evaluation of surgical practice]. / La neurochirurgie fonctionnelle des nerfs crâniens Evaluation de l'activité

We report the results of an investigation carried out on the activity of functional neurosurgery of the cranial nerves in the French-speaking countries, based on the analysis of a questionnaire addressed to all the members of the SNCLF. Eighteen centers responded to this questionnaire, which showed that activities and indications varied greatly from one unit to another. The results appear homogeneous and comparable with those reported in the literature. The questionnaire sought to provide a global perspective, open to the comments and questions of all responders on the various techniques raised, with the objective of establishing a common decisional tree for these pathologies and providing if possible to a consensus for better dissemination of these therapies.

Efficacy and safety of adeno-associated viral vectors based on serotype 8 and 9 vs. lentiviral vectors for hemophilia B gene therapy.

BACKGROUND: Adeno-associated viral (AAV) and lentiviral vectors are promising vectors for gene therapy for hemophilia because they are devoid of viral genes and have the potential for long-term gene expression. OBJECTIVES: To compare the performance of different AAV serotypes (AAV8 and AAV9) vs. lentiviral vectors expressing factor (F) IX. METHODS AND RESULTS: AAV-based and lentiviral vectors were generated that express FIX from the same hepatocyte-specific expression cassette. AAV9 transduced the liver as efficiently as AAV8 and resulted in supra-physiological FIX levels (3000-6000% of normal) stably correcting the bleeding diathesis. Surprisingly, AAV9 resulted in unprecedented and widespread cardiac gene transfer, which was more efficient than with AAV8. AAV8 and AAV9 were not associated with any proinflammatory cytokine induction, in accordance with their minimal interactions with innate immune effectors. In contrast, lentiviral transduction resulted in modest and stable FIX levels near the therapeutic threshold (1%) and triggered a rapid self-limiting proinflammatory response (interleukin-6), which probably reflected their ability to efficiently interact with the innate immune system. CONCLUSIONS: AAV8 and 9 result in significantly higher FIX expression levels and have a reduced proinflammatory risk in comparison with lentiviral vectors. The unexpected cardiotropic properties of AAV9 have implications for gene therapy for heart disease.

Evaluation of three serum i-ELISAs using monoclonal antibodies and protein G as peroxidase conjugate for the diagnosis of bovine brucellosis.

Three i-ELISAs using LPS, the immunodominant component of Brucella abortus, were developed with three different conjugates: monoclonal antibodies 1C8 (anti-bovine IgG(1)) and 3H3 (mainly specific for bovine IgG(2) but also reacting with IgG(1)) and protein G (reacts with both bovine IgG subclasses). Using a cut-off value of 2.5U/ml, the i-ELISA with 3H3 as conjugate had a specificity (95% CI: 98.32-99.63%) that was significantly higher than the same assay with 1C8 (95% CI: 96.08-98.26%) or PG (95% CI: 95.83-98.09%). In areas where false positive serological reactions (FPSR) were common, the specificity of the i-ELISAs decreased significantly. The specificity of the i-ELISAs increased with the age of the animals tested, irrespective of the conjugate. The specificity of the i-ELISAs and traditional tests was also examined using sera from animals infected per os with bacteria bearing LPS similar to the Brucella LPS. It appeared that Yersinia enterocolitica O:9, Xanthomonas maltophilia and Salmonella urbana infections induced FPSR both in the i-ELISAs and in the traditional tests, but the 3H3 assay was significantly less prone to produce false positive reactions than the 1C8 and PG assays. The i-ELISAs were more sensitive, allowed earlier detection, and were more persistent than the traditional serological tests both in experimentally and naturally Brucella-infected animals. Weekly i-ELISA monitoring of experimentally infected pregnant heifers (previously vaccinated or not) allowed a prediction of abortion. Furthermore, the 1C8 assay showed significantly higher titres irrespective of day post-infection and vaccination status. The accuracy of the assay could be improved by making use of additional information (e.g. animal age or conjugate) and by selecting appropriate cut-off points on the basis of the prevailing epidemiological situation. The i-ELISAs appear an appropriate choice in order to maintain an official brucellosis-free status because of their sensitivity, early detection and long persistence and, for the same reasons, seem especially valuable for the detection of latent carriers (i.e. animals classified negative by classical serological tests) among imported animals.

Diagnosis of bovine brucellosis by skin test: conditions for the test and evaluation of its performance.

Brucellergene OCB (Rhône-Mérieux) was used as an allergen to define the intrinsic parameters of a skin test and to compare its properties with serology for the diagnosis of bovine brucellosis. The skin test was also evaluated for its capacity to solve problems associated with false positive reactions in serological tests. The optimal reading delay for the skin test was 72 hours. The brucellosis allergic reaction was two to three times less intense than the tuberculosis allergic reaction. An increase of 1.1 mm or more in the skin thickness was therefore considered to be an adequate cut-off. The specificity calculated for 1192 brucellosis-free animals (including animals from brucellosis-free herds in which false positive serological reactions had been reported) was 99-83 per cent (95 per cent confidence interval [CI] 99-40 to 99-98 per cent). The sensitivity determined from 27 experimentally infected heifers ranged from 93 per cent (95 per cent CI 76 to 100 per cent) to 78 per cent (95 per cent CI 58 to 91 per cent) when measured respectively one and six months after the infection. Allergic reactions could be detected in vaccinated animals up to four-and-a-half years after the vaccination. On the other hand, no sensitisation was recorded in naïve animals after up to eight monthly injections of the allergen. The skin test gave valuable information, in combination with the serological tests, in both acute and chronic brucellosis. The skin test discriminated brucellosis clearly from false positive serological reactions due to infections with Yersinia enterocolitica O9.

Enterogenous cyst of the cauda equina. A case report and a review of the literature.

The clinico-pathological findings in a 38-year-old man with a progressive cauda equina syndrome and with a dorsal dermal fistula in the lower back are presented. The X-rays of the spine revealed fusion of the vertebrae L4-L5 and L5-S1, and the myelogram showed an intradural tumour, extending upto the level of L2. An enterogenous cyst, adherent to the right third lumbar radix was completely removed. The clinical and pathological data are compared to previous published cases and discussed in relation to the origin of the tumour.

Microvascular decompression in the posterior fossa of the trigeminal nerve for tic douloureux and microvascular decompression of the facial nerve for hemi-facial spasm.

In a 12-month period, eight patients have been treated for trigeminal neuralgia and one for hemifacial spasm by microvascular decompression through a suboccipital craniectomy. The results and morbidity are mentioned and discussed.