Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.     

Plasma C-peptide levels and clinical remissions in recent-onset type I diabetic patients treated with cyclosporin A and insulin

Remission from insulin dependency in insulin-treated recent-onset type I (insulin-dependent) diabetic patients can result from a partial recovery of insulin secretion, an improvement in tissue sensitivity to insulin, or both. The same hypothesis must be analyzed when remission occurs in cyclosporin A (CsA)-treated patients. In this study, plasma C-peptide levels were serially measured in the basal state and after stimulation in 219 recent-onset type I diabetic patients; 129 received CsA, and all patients were similarly monitored and insulin treated. The results were analyzed in view of the occurrence of remission. Remission was defined as good metabolic control in the absence of hypoglycemic treatment for greater than or equal to 1 mo. Remission occurred in 44% of the CsA-treated group and lasted for mean +/- SE 10.0 +/- 0.9 mo vs. 21.6% in the non-CsA-treated group with a duration of 4.4 +/- 0.8 mo. Plasma C-peptide levels were initially dramatically lower than normal in both groups in the basal and stimulated states. C-peptide levels increased significantly later, at 3 and 6 mo, in both groups. C-peptide values were proportional to the rates of remission in both groups. In the non-CsA-treated group, C-peptide levels later decreased, and these patients inexorably relapsed to insulin dependency. In contrast, in the CsA-treated group, the initial recovery in insulin secretory capacity was maintained over the 18-24 mo of the study. Furthermore, higher remission rates and longer-lasting remission were obtained in patients who reached higher C-peptide levels at the 3rd mo of treatment.(ABSTRACT TRUNCATED AT 250 WORDS)     

Intrathyroidal metastases of a nephroepithelioma. Reflections on 5 operated cases

Out of 3,340 thyroidectomies (237 for cancer), the authors report 5 cases of thyroid metastases due to clear cell renal cancer. They emphasize the slow development of these metastases. Two cases were operated on 11 years after nephrectomy and one after 27 years. In one case, an intrathyroid metastasis led to the discovery of renal carcinoma. In 3 cases, evolution was rapidly fatal (within the first year). One patient is still alive 6 years after thyroidectomy. The authors emphasize clinical grounds for diagnosis and expose pathology findings that favor longer survival when there is early removal of intrathyroid metastases.     

A three step supercritical process to improve the dissolution rate of eflucimibe.

The aim of this study is to improve the dissolution properties of a poorly-soluble active substance, Eflucimibe by associating it with gamma-cyclodextrin. To achieve this objective, a new three-step process based on supercritical fluid technology has been proposed. First, Eflucimibe and cyclodextrin are co-crystallized using an anti-solvent process, dimethylsulfoxide being the solvent and supercritical carbon dioxide being the anti-solvent. Second, the co-crystallized powder is held in a static mode under supercritical conditions for several hours. This is the maturing step. Third, in a final stripping step, supercritical CO(2) is flowed through the matured powder to extract the residual solvent. The coupling of the first two steps brings about a significant synergistic effect to improve the dissolution rate of the drug. The nature of the entity obtained at the end of each step is discussed and some suggestions are made as to what happens in these operations. It is shown the co-crystallization ensures a good dispersion of both compounds and is rather insensitive to the operating parameters tested. The maturing step allows some dissolution-recrystallization to occur thus intensifying the intimate contact between the two compounds. Addition of water is necessary to make maturing effective as this is governed by the transfer properties of the medium. The stripping step allows extraction of the residual solvent but also removes some of the Eflucimibe which is the main drawback of this final stage.     

Use of polyglactin 910 mesh (Vicryl) in pelvic oncologic surgery

Various synthetic materials have been shown to be useful surgical adjuncts in shielding the small intestine from pelvic radiation or in creating a new pelvic floor after major radical resections. Promising preliminary results with a polyglactin 910 (Vicryl) mesh in preventing radiation enteropathy prompted the authors to evaluate its clinical usefulness in reconstruction of the pelvic floor. Use of this mesh in pelvic exenterations (five total, one posterior) for advanced or recurrent gynecologic malignancies was associated with one enteroperineal fistula but no pelvic infection. In comparison with other pelvic reconstruction devices, this absorbable mesh significantly reduced intestinal morbidities in pelvic exenterations. This procedure appears to be feasible, reproducible, and safe, especially in patients who have undergone previous irradiation or those with an unsuitable omentum.     

Uterine metastases from primary breast-cancer - report of 2 cases

The authors report on 2 cases of uterine dissemination from primary breast carcinoma. Special emphasis is made on this atypical site of metastases and on the necessity of a gynecological work-up in patients previously treated for breast cancer.     

Analytical validation of anti-toxoplasma IgG immunoassays

There are often discrepancies when using different methods to measure anti-Toxoplasma gondii IgG levels in patient samples. The diagnostic performance of a chemiluminescent immunoassay (CLIA) and an enzyme-linked fluorescent assay (ELFA) used as confirmatory tests for samples identified as positive or equivocal by an electrochemiluminescent immunoassay (ECLIA) were examined. Cut-off values were those stated by the manufacturer, and Western blot was used to confirm the results of all methods. All samples identified as positive by ECLIA (n = 93) were confirmed as positive by Western blot, as were 14 of the 28 samples identified as equivocal. When these 121 samples were retested, the sensitivities of CLIA and ELFA were 64.4% and 73.8%, respectively. Both methods exhibited a specificity of 100%. This study confirms that the results obtained from the different immunoassays are not comparable, and neither CLIA nor ELFA should be used to confirm ECLIA results, which should instead be confirmed by methods such as Western blot or Sabin-Feldman dye test.     

Epigallocatechin Gallate: A Review of Its Beneficial Properties to Prevent Metabolic Syndrome

Obesity and being overweight are linked with a cluster of metabolic and vascular disorders that have been termed the metabolic syndrome. This syndrome promotes the incidence of cardiovascular diseases that are an important public health problem because they represent a major cause of death worldwide. Whereas there is not a universally-accepted set of diagnostic criteria, most expert groups agree that this syndrome is defined by an endothelial dysfunction, an impaired insulin sensitivity and hyperglycemia, dyslipidemia, abdominal obesity and hypertension. Epidemiological studies suggest that the beneficial cardiovascular health effects of diets rich in green tea are, in part, mediated by their flavonoid content, with particular benefits provided by members of this family such as epigallocatechin gallate (EGCG). Although their bioavailability is discussed, various studies suggest that EGCG modulates cellular and molecular mechanisms of various symptoms leading to metabolic syndrome. Therefore, according to in vitro and in vivo model data, this review attempts to increase our understanding about the beneficial properties of EGCG to prevent metabolic syndrome.     

Campagne de vaccination hors centre contre la rougeole des populations précaires en période de pic épidémique,Marseille 2011

BackgroundFrom 2008 to the end of 2011, Europe experienced a major outbreak of measles. The outbreak hit France especially hard, with measles hotspots in the South-East of France. It is known that people living in precarious socio-economic conditions are more exposed to infectious diseases. Regarding the local situation, the NGO “MdM-Marseille” decided to conduct a vaccination campaign among the Roma community living in camps.MethodsThe campaign was planned with two injections of a combined measles, mumps and rubella vaccine (MMR) in a one month interval for all young people born since 1980 and over the age of one year, regardless of antecedents. Twenty-four camps were selected. The target population was estimated at 720 people. Each site was the subject of an information visit. A letter was sent to the Prefecture to inform them and ask for a moratorium on evictions for the identified camps.ResultsBetween May 15th and September 15th 2011, 326 primary immunizations were performed during 34 visits (covering 45.3% of the target population). Over the same period, almost all the camps were evacuated, forcing teams to stop the vaccination campaign. The second injection campaign covered only 37 persons.ConclusionThe vaccination campaign among Roma populations in Marseilles was organized in a context of a major national outbreak of measles in the general population. Although the Prefecture was informed, camp evictions were not interrupted. This highlights the discrepancy between public health policy and security policy. In the context of an epidemic, innovative actions should be focused on vulnerable populations in partnership with health authorities. The main objective is to find procedures that can protect populations at risk in the event of a health crisis but which are also useful for routine prevention.