Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing

In this study, single sperm typing has been used for high-resolution recombination analysis between the retinoblastoma gene and two closely linked extragenic microsatellites (D13S284 and D13S1307). The analysis of 1198 single sperm from three donors allowed the determination of recombination fractions between RB1.20 and D13S284 and RB1.20 and D13S1307 of 0.022 and 0.033, respectively. These results show that RB1 gene and the two microsatellites are closely linked, which validates their potential use in indirect genetic diagnosis of retinoblastoma.     

Chemotherapy for retinoblastoma

Retinoblastoma is the most common eye cancer in children. Pilot studies of chemotherapy for intraocular retinoblastoma have been reported by several groups, using different combinations, dosages, schedules, and durations of carboplatin, etoposide, or teniposide, with or without vincristine, and with or without cyclosporine to counteract multidrug resistance. All studies of chemotherapy for intraocular retinoblastoma have included consolidation by focal therapy, with or without radiation. Chemotherapy alone reduces tumor size but does not cure retinoblastoma. Focal therapy, consisting of photocoagulation, thermotherapy, cryotherapy, or brachytherapy, is necessary to consolidate chemotherapy response.     

Optical coherence tomography in Malattia Leventinese

BACKGROUND: Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, named Forni's verrucosities. The aim of this study is to describe optical coherence tomographic (OCT) findings and to compare them with histological data. PATIENTS AND METHODS: Six patients underwent ophthalmological examination, angiography and OCT. Diagnosis was confirmed by genetic analysis of the R345W mutation. A histopathological study of an ML donor eye was performed. RESULTS: OCT revealed a diffuse RPE-choriocapillaris thickening with nodular features in the macular and parapapillary areas. The protrusions reached as far as the outer nuclear layer. CONCLUSIONS: OCT is a non-invasive technique that provides a cross-sectional picture of the retina comparable to a histological section. In ML, OCT revealed a diffuse alteration of the RPE-Bruch's membrane complex. The macular and parapapillary nodular lesions are the tomographic equivalents of drusen and Forni's verrucosities.     

New strategies in the management of retinoblastoma

It was rare that a child survived retinoblastoma at the beginning of the twentieth century. Today the survival rate is in the order of 95% in reference centers, with new strategies improving prognosis step by step. Systematic enucleation used to be the starting point of any true and structured management, until the advent of radiotherapy made it possible not only to save lives but also to retain some useful vision. Early diagnosis has enabled focal therapies such as photocoagulation, cryocoagulation, and radioactive applicators to open up a new era of targeted tumor treatment. However, the onset of nonocular tumors secondary to radiotherapy, the resistance of certain tumors to irradiation, and unsightly cosmetic consequences all justify research into alternative therapeutic strategies. New types of chemotherapy have shown spectacular results and are currently under study: chemoreduction to make large tumors more manageable and enable less aggressive treatment of tumors located in delicate sites, thermochemotherapy using the effect of heat on plasma membrane permeability to antimitotics, and chemotherapy associated with cyclosporine to reduce the multidrug resistance of certain tumors. The aim is to avoid primary enucleation and external beam radiation as far as possible. The future may lie in local chemotherapy, hyperthermia, and dynamic phototherapy, accelerated proton beam radiotherapy also has promising prospects.     

Transinteractome analysis reveals distinct niche requirements for isotype-based plasma cell subsets in the bone marrow

Bone marrow (BM) long-lived plasma cells (PCs) are essential for long-term protection against infection, and their persistence within this organ relies on interactions with Cxcl12-expressing stromal cells that are still not clearly identified. Here, using single cell RNAseq and in silico transinteractome analyses, we identified Leptin receptor positive (LepR⁺) mesenchymal cells as the stromal cell subset most likely to interact with PCs within the BM. Moreover, we demonstrated that depending on the isotype they express, PCs may use different sets of integrins and adhesion molecules to interact with these stromal cells. Altogether, our results constitute an unprecedented characterization of PC subset stromal niches and open new avenues for the specific targeting of BM PCs based on their isotype.     

Renal Transplant Patients Undergo Abdominal Aortic Aneurysm Repair at a Younger Age and Experience More Complications: Review of the Healthcare Cost and Utilization Project Database

ObjectiveThe objective of this study was to determine whether history of kidney transplant is a risk factor for increased complications in patients who undergo abdominal aortic aneurysm (AAA) repair.BackgroundThe incidence of renal failure and subsequent kidney transplant is steadily rising. Many risk factors leading to AAA overlap with those of renal disease. Due to these similarities, a rising incidence of kidney transplant patients undergoing AAA repair is expected. We surmised a notable difference in AAA surgical repair outcomes in renal transplant recipients compared to the general population.MethodsA retrospective analysis was performed on 59,836 adult patients with history of AAA repair and kidney transplant from 2008 to 2015. Data were obtained from the Nationwide Inpatient Sample database developed for the Healthcare Cost and Utilization Project.ResultsSignificant differences in age, race, hospital characteristics, and complications were identified. The results suggest that patients with prior transplant generally have AAA repair at a significantly younger age (P < .001). A difference in race (P = .017), with 75% vs 87.4% non-Hispanic whites and 5% vs 1.5% Asian/Pacific Islander in the transplant and nontransplant groups, respectively, was shown. Procedures at transplant centers had significantly longer lengths of stay (P < .001) and higher total charges (P < .001). In addition, transplant recipients exhibited a higher in-hospital mortality index (P < .001) than the nontransplanted population.ConclusionA history of kidney transplant significantly influences multiple aspects of care and complications regarding future AAA repair and is associated with increased in-hospital mortality index. Significant findings include increased total charges, longer lengths of stay, postoperative complications, and differences in age and race.