A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

The first localization of a gene responsible for autosomal,neurosensory, recessive deafness recently assigned NSRD1 tothe centromeric region of human chromosome 13. We now reporton a dominant form of neurosensory deafness found In a familyof French origin. The deafness is moderate to severe, has aprellngual onset and affects predominantly the high frequencies.The gene responsible for this form of deafness was found bylinkage analysis to map to the same region of chromosome 13as NSRD1. A multipoint analysis gave a maximum lod score of4.66 with a most likely location close to locus D13S175. Thissuggests that different mutations in NSRD1 may cause both dominantand recessive neurosensory deafness.     

A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23

The recessive mode of transmission accounts for approximately 75% of inherited non syndromic deafness cases. We have previously designed the conditions for linkage studies of this highly heterogeneous disorder [Guilford et al. (1994) Nature Genet. 6, 24-28]. Here, using a similar approach, we have studied the segregation of a gene responsible for congenital, profound and fully penetrant sensorineural deafness in a consanguineous family living in an isolated region of Lebanon. A maximum lod score of 8.03 (theta = 0.00) was detected with a new polymorphic marker, AFMa052yb5 (D2S2144). Observed recombinants and homozygosity mapping define a maximum interval of 2 cM for this gene, DFNB6, which lies between AFMb346ye5 (a new polymorphic marker) (D2S2303) and AFM254vc9 (D2S174) on chromosome 2p22-23.      

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

The identification of mouse models for the various forms ofhuman neurosensory non-syndromic recessive deafness would constitutea major advance in the study of human deafness. Here we describethe localization of a human gene for neurosensory, non-syndromicrecessive deafness (NSRD2) to chromosome 11q13.5 by linkageanalysis of a highly consanguineous family. A maximum lod scoreof 10.63 (     

Impact de l’adhérence aux traitements médicamenteux sur le pronostic des patients coronariens

Prescribing recommended medications is associated with improved outcomes in coronary artery disease patients. Likewise, adherence to prescribed medications, which frequently appears far from optimal, is significantly correlated with improved survival in “real world” observational databases. The present article reviews currently available data on the impact of medication adherence on outcomes in patients with coronary artery disease.     

Aedes albopictus may not be vector of dengue virus in human epidemics in Brazil

Over 60,500 dengue cases were reported in the state of Espírito Santo (ES), Brazil, between 1995 and 1998. The study's purpose was to identify whether Aedes albopictus was transmitting the dengue virus during an epidemic in the locality of Vila Beth nia (Viana County),Vitória, ES. From April 3 to 9, 1998, blood and serum samples were collected daily for virus isolation and serological testing. Four autochthonous cases were confirmed through DEN 1 virus isolation and two autochthonous cases through MAC ELISA testing. Of 37 Ae. aegypti and 200 Ae. albopictus adult mosquitoes collected and inoculated, DEN1 virus was isolated only from a pool of two Ae. aegypti female mosquitoes. The study results suggest that Ae. albopictus still cannot be considered an inter-human vector in dengue epidemics in Brazil.     

Therapeutic monitoring of mycophenolate mofetil in organ transplant recipients: is it necessary?

Adequate immunosuppression minimising the risk of organ rejection with acceptable tolerability of the used drugs is a crucial step in organ transplantation. The primary goal is to maintain a consistent time-dependent target concentration by tailoring individual dosage leading to the best efficacy and tolerability combination. The use of therapeutic drug monitoring (TDM) to optimise immunosuppressive therapy is routinely employed for maintenance drugs such as cyclosporin and tacrolimus. The question whether therapeutic monitoring of mycophenolic acid (MPA) in organ transplant recipients treated with mycophenolate mofetil is necessary is not definitely answered. The correlation of mycophenolic acid pharmacokinetic parameters with efficacy and toxicity makes the therapeutic monitoring of this drug promising. However, further studies are mandatory to draw the best guidelines in order to achieve higher levels of evidence that MPA-TDM may improve patient outcome.     

Review of experimental attempts of islet allotransplantation in rodents:Parameters involved and viability of the procedure

The purpose of the present study was to organize the parameters involved in experimental allotransplantation in rodents to elaborate the most suitable model to supply the scarcity of islet donors. We used the PubMed database to systematically search for published articles containing the keywords "rodent islet transplantation" to review. We included studies that involved allotransplantation experiments with rodents’ islets, and we reviewed the reference lists from the eligible publications that were retrieved. We excluded articles related to isotransplantation, autotransplantation and xenotransplantation, i.e., transplantation in other species. A total of 25 studies related to allotransplantation were selected for systematic review based on their relevance and updated data. Allotransplantation in rodents is promising and continues to develop. Survival rates of allografts have increased with the discovery of new immunosuppressive drugs and the use of different graft sites. These successes suggest that islet transplantation is a promising method to overcome the scarcity of isletdonors and advance the treatment options for type 1 diabetes.     

The main indications and techniques for vascular exclusion of the liver

BACKGROUND: The purpose of vascular clamping during the course of liver resection is to reduce bleeding and subsequent complications. AIM: To show both step-by-step surgical techniques for vascular exclusion of the liver and their indications. METHODS: It is described the following techniques: clamping of the hepatic pedicle, "Pringle" maneuver; intermittent clamping of the hepatic pedicle; intermittent vascular exclusion of the liver, without vena cava clamping, and hepatic vascular exclusion with vena cava clamping. Also metabolic and homodynamic consequences as well as the technical failure of the application of each of them are discussed. CONCLUSIONS: The choice of technique to use for clamping during hepatectomy depends on the surgeon's judgment. Dogmatic or systematic attitude, is prejudiciable for the patient and liver surgeon must be able to use all kinds of clamping.     

Biological therapies in lung cancer treatment: using our immune system as an ally to defeat the malignancy

Introduction: Biological therapies, with immunotherapy leading the field, have arisen as one of the quickest expanding areas of research for cancer treatment in the last few years. The clear benefits for patients are undeniable, satisfying the long-awaited necessity of a target-specific therapy. However, its full potential remains still unexploited due to a lack of response in a majority of patients and pending reliable biomarkers.

Areas covered: This review provides a summarizing view of the current biological therapies for lung cancer, focusing on immunotherapy – including immune checkpoint inhibitors, adoptive cell therapy and vaccines available in clinical/pre-clinical settings or currently in development. A thorough analysis of the technical and functional differences among all therapies is provided, along with a critical discussion of prospective treatments and potential biomarkers.

Expert opinion: The use of immunotherapy in the treatment of cancer has provided clear benefits for patients. Still, exploitation of the full potential of immune checkpoint inhibitors alone or in combination, or adoptive cell therapies is hampered by, amongst other reasons, the lack of reliable biomarkers and possible adverse immune effects. We postulate that the development of liquid biopsy-based diagnostics will help to overcome these limitations in the near future.