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

    Cusumano, Andrea / Falsini, Benedetto / D'Ambrosio, Michele / D'Apolito, Fabian / Sebastiani, Jacopo / Levialdi Ghiron, Jung Hee / Giardina, Emiliano / Cascella, Raffaella

    Case reports in ophthalmology

    2023  Volume 14, Issue 1, Page(s) 626–639

    Abstract: 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 : Case ... ...

    Abstract 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
    Case presentation: Three DHRD patients (case 1, male and cases 2 and 3, two sister females, age range 41-46) with
    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.
    Language English
    Publishing date 2023-11-23
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2577666-6
    ISSN 1663-2699
    ISSN 1663-2699
    DOI 10.1159/000534579
    Database MEDical Literature Analysis and Retrieval System OnLINE

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

    Cusumano, Andrea / Roshanravan, Hila / Chao-Shern, Connie / Sebastiani, Jacopo / Levialdi Ghiron, Jung Hee / DeDionisio, Larry / Moore, Tara

    Journal of medical case reports

    2022  Volume 16, Issue 1, Page(s) 207

    Abstract: 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 ... ...

    Abstract 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.
    MeSH term(s) Adult ; Cornea/surgery ; Corneal Diseases/surgery ; Corneal Topography ; Dilatation, Pathologic/surgery ; Humans ; Lasers ; Male ; Refractive Surgical Procedures
    Language English
    Publishing date 2022-05-16
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2269805-X
    ISSN 1752-1947 ; 1752-1947
    ISSN (online) 1752-1947
    ISSN 1752-1947
    DOI 10.1186/s13256-022-03395-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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

    Levialdi Ghiron, Jung Hee / Amato, Alberto / Montresor, Marina / Kooistra, Wiebe H C F

    Protist

    2008  Volume 159, Issue 1, Page(s) 91–98

    Abstract: 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 ' ... ...

    Abstract 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.
    MeSH term(s) Animals ; Cell Division/genetics ; Diatoms/cytology ; Diatoms/genetics ; Diatoms/growth & development ; Haplotypes ; Models, Biological ; Plankton/growth & development ; Plastids/genetics ; Polymerase Chain Reaction ; Ribulose-Bisphosphate Carboxylase/genetics
    Chemical Substances RbcL protein, plastid (EC 4.1.1.39) ; Ribulose-Bisphosphate Carboxylase (EC 4.1.1.39)
    Language English
    Publishing date 2008-01
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2036014-9
    ISSN 1618-0941 ; 1434-4610
    ISSN (online) 1618-0941
    ISSN 1434-4610
    DOI 10.1016/j.protis.2007.06.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Come cambia la popolazione uremica nel Registro Nazionale di Dialisi e Trapianto.

    Limido, Aurelio / Nichelatti, Michele / Postorino, Maurizio / Levialdi Ghiron, Jung Hee / Di Napoli, Anteo / Maggiore, Umberto / Nordio, Maurizio / Quintaliani, Giuseppe / Rustici, Andrea

    Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

    2012  Volume 29 Suppl 58, Page(s) S21–6

    Abstract: 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 ... ...

    Title translation Changes in the uremic population overtime: data from the Italian Registry of Dialysis and Transplantation (RIDT).
    Abstract 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.
    MeSH term(s) Aged ; Humans ; Italy ; Kidney Transplantation ; Middle Aged ; Registries ; Renal Replacement Therapy ; Time Factors ; Uremia/epidemiology ; Uremia/therapy
    Language Italian
    Publishing date 2012-11
    Publishing country Italy
    Document type English Abstract ; Journal Article
    ZDB-ID 1237110-5
    ISSN 1724-5990 ; 0393-5590
    ISSN (online) 1724-5990
    ISSN 0393-5590
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Censimento SIN 2008: il modello organizzativo.

    Quintaliani, Giuseppe / Postorino, Maurizio / Di Napoli, Anteo / Limido, Aurelio / Dal Canton, Antonio / Balducci, Alessandro / Contu, Bruno / Salomone, Mario / Nordio, Maurizio / Levialdi Ghiron, Jung Hee / Viglino, Giusto / Pizzarelli, Francesco / Coppo, Rosanna

    Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

    2012  Volume 29, Issue 1, Page(s) 70–80

    Abstract: 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 ... ...

    Title translation SIN census 2008: the management model.
    Abstract 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.
    MeSH term(s) Censuses ; Humans ; Italy ; Nephrology ; Registries ; Renal Dialysis/standards ; Renal Dialysis/statistics & numerical data ; Societies, Medical
    Language Italian
    Publishing date 2012-01
    Publishing country Italy
    Document type English Abstract ; Journal Article
    ZDB-ID 1237110-5
    ISSN 0393-5590
    ISSN 0393-5590
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  6. Article: Censimento SIN 2008: il lavoro del nefrologo.

    Quintaliani, Giuseppe / Postorino, Maurizio / Di Napoli, Anteo / Limido, Aurelio / Dal Canton, Antonio / Balducci, Alessandro / Contu, Bruno / Salomone, Mario / Nordio, Maurizio / Levialdi Ghiron, Jung Hee / Viglino, Giusto / Pizzarelli, Francesco / Coppo, Rosanna

    Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

    2011  Volume 28, Issue 6, Page(s) 633–641

    Abstract: 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 ...

    Title translation SIN census 2008: the nephrologist's workload.
    Abstract 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.
    MeSH term(s) Ambulatory Care Facilities/statistics & numerical data ; Censuses ; Health Surveys ; Hemodialysis Units, Hospital/statistics & numerical data ; Humans ; Italy/epidemiology ; Kidney Diseases/therapy ; Kidney Failure, Chronic/epidemiology ; Kidney Failure, Chronic/therapy ; Kidney Transplantation/statistics & numerical data ; Nephrology ; Prevalence ; Registries ; Renal Dialysis/statistics & numerical data ; Societies, Medical ; Surveys and Questionnaires ; Workload
    Language Italian
    Publishing date 2011-11
    Publishing country Italy
    Document type English Abstract ; Journal Article ; Multicenter Study
    ZDB-ID 1237110-5
    ISSN 0393-5590
    ISSN 0393-5590
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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