Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series.

Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal drusenoid deposits. In a previous study, we reported the short-term beneficial effects of nanosecond laser treatment (2RT) on retinal function in DHRD. The aim of the present report was to describe the findings of a long-term follow-up of retinal structure/function in a small case series of patients with DHRD who underwent 2RT treatment. Case Presentation: Three DHRD patients (case 1, male and cases 2 and 3, two sister females, age range 41-46) with EFEMP1 pathogenic variant (c.1033C>T; p.R345W) and drusenoid deposits at the posterior pole were examined at baseline and after 2RT treatment, at regular intervals (every 2-4 months) up to 30 months. All 3 patients underwent one or two treatment sessions in one or both eyes during the follow-up period. Case 3 was treated with only the left eye (LE). Each patient underwent a full ophthalmologic examination, spectral domain optical coherence tomography (OCT), central perimetry with frequency doubling technology, and mesopic and photopic Ganzfeld electroretinograms. Compared to baseline findings, during follow-up, visual acuity improved in both eyes in case 1 and LE in case 2, while it decreased in the right eye in case 2 and LE in case 3; perimetric sensitivity was stable in case 1 and improved in both eyes in cases 2 and 3; and electroretinogram amplitude improved in cases 1 and 2 and was stable in case 3 (both eyes). OCT central macular thickness and retinal structure were stable in all cases. None of the patients had treatment-related side effects. Conclusion: This is the first report showing that in a long-term follow-up, 2RT treatment in DHRD may improve or stabilize some retinal function parameters without significant structural changes.

Genetic prescreening of a candidate for laser refractive surgery identifies risk for inadequate tissue response: a case report.

BACKGROUND: Inadequate response to corneal laser refractive surgery, e.g., ectatic corneal diseases, may not be identified by conventional examinations, hence creating therapeutic uncertainty. Herein we demonstrate the application of genetic prescreening to augment preassessment for corneal laser refractive surgery and highlight the ability to prevent the possibility of enrolling a subject at risk for developing ectatic corneal diseases. CASE PRESENTATION: Preoperative tests were performed alongside deoxyribonucleic acid (DNA) sequencing of 75 genes specific to the structure and health of the eye of a 44-year-old Caucasian male candidate for corneal laser refractive surgery. The patient had no medical, family, or psychosocial history, nor symptoms that could lead to suspect any corneal abnormalities, and conventional preoperative tests confirmed that no corneal abnormalities were present. The sequencing results uncovered rare DNA variants within the ADGRV1, PTK2, ZNF469, and KRT15 genes. These variants were considered potential risk factors for inadequate response in the patient post corneal laser refractive surgery. Subsequent reevaluation with three different last-generation corneal tomographers identified in the left eye a "warning" for a deformity of the posterior profile of the cornea. CONCLUSIONS: Genetic prescreening identifies potential risk of inadequate response to corneal laser refractive surgery where current technologies in use may lead to a hazardous predictive diagnostic uncertainty.

[Changes in the uremic population overtime: data from the Italian Registry of Dialysis and Transplantation (RIDT)]. / Come cambia la popolazione uremica nel Registro Nazionale di Dialisi e Trapianto.

Over the last years in the industrialized countries there have been many changes in the number and characteristics of patients starting renal replacement therapy. This review reports the changes that took place in Italy, analyzing the data from the Italian Registry of Dialysis and Transplantation (RIDT), which collects information from all Italian regions according to common inclusion and coding parameters. The years between 1999 and 2009 were analyzed for the calculation of the average and median age of incident patients, the percent distribution of the different diseases necessitating dialysis, and the mortality after one year. Patients who underwent a kidney transplant as the first event were not included in the analysis. The incidence of uremia in Italy showed a constant increase from 1999 (131 pmp) to 2009 (160 pmp), mainly due to an increase in patients aged over 70 years. In fact, in recent years about 50% of the patients who started renal replacement therapy were aged over 72, 25% were older than 78 years, and only 25% were younger than 60 years. According to the Italian epidemiological data, the percentage of patients with diabetic nephropathy or diabetes as comorbidity has risen steadily (from 19% in 1999 to 27% in 2009). However, in spite of the progressive increase in the two main risk factors for survival (older age and diabetes), the mortality after one year of renal replacement therapy did not show a significant rise from 1999 to 2009.

[SIN census 2008: the management model]. / Censimento SIN 2008: il modello organizzativo.

This paper reports the analysis of the second part of the data obtained from the second SIN census and illustrates the management model of the Italian dialysis centers, highlighting its strengths but also its limits. The census was carried out between March and December 2008 with a webbased survey using fillable PDF forms. The survey was validated by comparing the data with those sent to the Italian Dialysis and Transplant Register (Registro Italiano di Dialisi e Trapianti, RIDT) and hence it refers to December 31, 2008, the date of the last RIDT report. Forty-two percent of dialysis centers, which altogether take care of 50% of Italian dialysis patients, participated in the census. The participation percentage was very variable among Italian regions (from 5% to 100% of dialysis centers). By excluding the three regions with a participation rate below 10%, the survey reached a participation rate of 68% of all Italian dialysis centers and is therefore sufficient to give an estimate of the Italian dialysis situation. However, because of this variability it was not possible to compare regional situations, and the data were evaluated only by analyzing the ''complex'' and ''simple'' dialysis centers separately. The state of affairs of dialysis in Italy on the whole proved to be complicated. It is striking, for example, that 15% of the ''complex'' dialysis centers do not have their own hospital beds and some of them lack traceability programs. Noteworthy are also the increasing use of central venous catheters and the number of patients that need an ambulance to get to the dialysis center. Despite its limits due to the reduced participation in the census, this work offers a fair description of the state of affairs of dialysis in Italy, where there is certainly space for qualitative improvement. First of all, however, every effort should be made to implement and improve the use of the existing structures and to standardize protocols and behaviors in all Italian dialysis centers.

[SIN census 2008: the nephrologist's workload]. / Censimento SIN 2008: il lavoro del nefrologo.

This paper reports on a first analysis of data of the second survey promoted by the Italian Society of Nephrology (SIN), with particular regard to data referring to the nephrologist's workload. The survey was carried out through a Web-based questionnaire that participants could fill in online between March and December 2010. The data were validated against those of the Italian Dialysis and Transplant Registry (RIDT) and therefore refer to 31 December 2008, the date of the last RIDT report. Accurate completion of the questionnaires and reminders were monitored by the presidents of the regional sections of the SIN and the regional registries' chairpersons under the coordination of four area managers and a census committee. The response to the survey represented 42% of all nephrology centers, treating about 50% of all dialysis patients in Italy. The response percentage varied widely among regions (from 5% to 100% of the centers). After exclusion of the three regions with responses below 10%, it reached 68%, which was sufficient to give an idea of the state of nephrology in Italy. However, due to this wide variability, it was not possible to make an overall comparison of the regional situations, hence data for complex and simple structures were assessed separately. Despite the limits due to the incomplete participation in the survey, this article provides a clear description of the state of nephrology in Italy. The results confirm the hypothesis presented in the work of Bocconi Cergas, namely that the nephrology market is broader than nephrologists are able to control. The work of the nephrologist, which still seems to be focused mainly on dialysis in its various forms, should be directed more towards the development of methods for early detection of kidney disease and close follow-up. The ultimate aim is the early diagnosis of kidney disease and hence prevention of its complications, so that the focus no longer needs to be on ESKD treatment systems.

Plastid inheritance in the planktonic raphid pennate diatom Pseudo-nitzschia delicatissima (Bacillariophyceae).

Plastid inheritance was followed during sexual reproduction in the raphid pennate diatom Pseudo-nitzschia delicatissima, using rbcL haplotypes as plastid identification tools. Pseudo-nitzschia species are dioecious and show functional anisogamy with 'male' mating type+(PNd(+)) cells and 'female' PNd(-) cells. Vegetative cells possess two plastids. In P. delicatissima, meiosis results in two gametes that both contribute two plastids to the zygote. The latter initially contains four plastids, but during auxospore development two of these four seem to disappear, and the initial cell emerging from the auxospore appears to contain only two. Here we assessed if the plastids are inherited strictly unipaternally, strictly biparentally, or randomly. We traced the source of the plastids in the F(1) generation by using PNd(+) and PNd(-) parental strains with different rbcL genotypes, here denoted AA (homoplastidial, with two plastids of rbcL haplotype A) and BB (homoplastidial; two plastids of haplotype B). Results showed that 16 out of 96 strains raised each from single F(1) cells had retained two paternal (PNd(+)) plastids, 20 had two maternal (PNd(-)) plastids and the remaining 60 had one maternal and one paternal plastid. This pattern is in accordance with the hypothesis that either two of the four plastids are eliminated during auxospore formation, or that all plastids are retained in the auxospore and segregate in pairs joining at random during the first mitotic division of the initial cell. Heteroplastidic F(1)-strains retained the AB genotype throughout the vegetative phase of their life cycle. The finding that 60 out of 96 F(1) strains were heteroplastidial contrasts with an absence of such genotypes in our strains raised from single cells sampled in the Gulf of Naples.