Problemi di Genetica Oculistica: VI. Atrofia Ereditaria Progressiva dell'Iride

1959 ◽  
Vol 8 (1) ◽  
pp. 39-64 ◽  
Author(s):  
Luigi Gedda ◽  
Sandra Bérard-Magistretti

SUMMARYA family beloging to an isolated locality of Latium and comprising 362 subjects was studied. Among these subjects 63 cases of variably complicated iris atrophy, which the Authors distinguish in three degrees according to the severity of the disease, were found and studied. From the nosological point of view, glaucoma and hydrophthalmus proved to occur as secondary manifestations of the iris atrophy in this family. From the genetic standpoint it was confirmed that the transmission of the disease occurs by a dominance trait and that it probably corresponds only to a couple of autosomic allelomorphs. The penetrance seems to be almost complete, while the expressivity may be very variable.

Author(s):  
Teddy Lazebnik ◽  
Svetlana Bunimovich-Mendrazitsky ◽  
Labib Shami

Abstract Many researchers have tried to predict the impact of the COVID-19 outbreak on morbidity, in order to help policy-makers find optimal isolation policies. However, despite the development and use of many models and sophisticated tools, these forecasting attempts have largely failed. We present a model that considers the severity of the disease and the heterogeneity of contacts between the population in complex space–time dynamics. Using mathematical and computational methods, the applied tool was developed to analyze and manage the COVID-19 pandemic (from an epidemiological point of view), with a particular focus on population heterogeneity in terms of age, susceptibility, and symptom severity. We show improved strategies to prevent an epidemic outbreak. We evaluated the model in three countries, obtaining an average mean square error of 0.067 over a full month of the basic reproduction number (R 0). The goal of this study is to create a theoretical framework for crisis management that integrates accumulated epidemiological considerations. An applied result is an open-source program for predicting the outcome of an isolation strategy for future researchers and developers who can use and extend our model.


2020 ◽  
Vol 7 (2) ◽  
pp. 144-153
Author(s):  
D. A. Lomonosov ◽  
A. L. Lomonosov ◽  
S. V. Volkov ◽  
A. A. Golubev

Purpose of the study. The study of the current problems for acute external hemorrhoids (AEH) diagnosis and treatment from the point of view of a practicing ambulatory coloproctologist in the Tver region (based on an analysis of the clinical features of the disease, its course and the applied tactics of the coloproctologist) was made.Patients and methods. A retrospective study with continuous series of 124 patients (2016–2017), using clinical and statistical research methods.Results. Acute external hemorrhoids (AEH) is a painful formation that suddenly arises due to acute thrombosis of the external hemorrhoid plexus, located near the anus, mainly at 3, 5, 7 hours on the proctological dial, with a free space between the hemorrhoid and the mucous membrane of the anal canal. Patients with AEH turned to the ambulatory coloproctologist at a later date (on average 11.7 days after the onset of the disease), most often without pain or with slight pain in the anus, with mild and moderate severity of the disease. The main complications of AEH were necrosis and hemorrhoidal wall rupture with bleeding from it. Conservative treatment of patients with AEH was due to clinical guidelines of the Russian Coloproctologists Association (RCA); it was ineffective in 11.3% of patients, who underwent outpatient surgery. All patients with severe pain, high grades of AEH, were offered for hospitalization to the surgical department (including coloproctologcal), but they refused. Low operative activity and late surgery in patients with AEH, who applied to the polyclinic, were due to the fact that only 12 (9.7%) patients sought help within the first 72 hours of the onset of the disease, low severity of pain, as well as the patients refused the proposed operations.Conclusions. The studied features of the outpatient coloproctologic service in AEH reveal the inadequate availability of system resources for patients, inappropriate informing the population with «mass-media» technologies; it makes difficulties to implement the recommendations of the RCA.


2020 ◽  
Vol 21 (14) ◽  
pp. 1440-1447
Author(s):  
Hubert Zatorski ◽  
Radislav Nakov

Dysbiosis has been repeatedly observed in inflammatory bowel disease (IBD) and is now recognized as an essential factor in the gut inflammatory process. IBD is a significant burden to health-care systems, mainly due to treatment-related costs. Available treatments have several limitations: up to 30% of patients are primary non-responders, and between 10 and 20% lose response per year, requiring a dose-escalation or a switch to another biologic. Hence, the current IBD treatment is not sufficient, and there is an urgent need to introduce new therapies in the management of these patients. Recently, the correction of dysbiosis has become an attractive approach from a therapeutic point of view. Faecal microbiota transplantation (FMT) appears as a reliable and potentially beneficial therapy in IBD patients. There is developing data that FMT for mild-to-moderately active UC is a safe and efficient therapy for the induction of remission. However, the current studies have different designs and have a short follow up, which makes clinical interpretation significantly difficult. There is a need for RCTs with a well-defined study cohort using FMT for the therapy of CD patients. The location, behavior, and severity of the disease should be taken into account. The goal of this manuscript is to review the data currently available on FMT and IBD, to explain FMT principles and methodology in IBD patients and to discuss some unresolved issues.


2020 ◽  
Vol 63 (5) ◽  
pp. 45-57
Author(s):  
Adriana González-Villalva ◽  
Aurora de la Peña-Díaz ◽  
Marcela Rojas-Lemus ◽  
Nelly López-Valdez ◽  
Martha Ustarroz-Cano ◽  
...  

COVID-19 global pandemic caused by Sars-CoV-2 virus, has worried to health care providers due to the high mortality rate related to coagulopathy in many patients. COVID-19 coagulopathy is mainly thrombotic, first locally in lungs but later on it becomes micro and macrovascular systemic coagulopathy. It has been associated to endothelial damage, inflammation, neutrophil-extracellular traps, monocyte and macrophage activation, cytokines storm that induce a vicious cycle of thrombosis and inflammation. The increased levels of prothrombotic factors as tissue factor, Von Willebrand factor, fibrinogen, VIII factor and the decreased levels of antithrombotic factos, such as: antithrombin and Protein S have been reported in COVID-19 patients. Insufficiency of fibrinolysis because of the increased levels of PAI-1 (plasminogen activator inhibitor 1) have been reported also. During this disease there are intraalveolar fibrin deposits that needs to be degraded. Fibrinolysis of thrombus and fibrin intraalveolar degradation are responsible for the high increase of D-dimers levels that are an important predictor of severity of the disease. In this report, the physiology of hemostasis, thromboinflamation secondary to Sars-CoV-2 infection are reviewed, as well as the clinical evidence and the physiopathology of COVID-19 coagulopathy from the basic sciences point of view. Keywords:Hemostasis; coagulation; thrombosis; coagulopathy; Sars-CoV-2; COVID-19.


2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Hiroshi Hashimoto

AAV in SSc is described from the point of view of MPA. Some of reported SSc cases with AAV are thought to exhibit the characteristic clinical manifestations of MPA, although ANCA positivity in SSc is uncommon. MPA is clinically characterized by a multisystemic disease such as RPGN, pulmonary hemorrhage, mononeuritis, and skin involvement, as well as other manifestations in conjunction with high levels of inflammatory activity such as high ESR or CRP. It is also characterized by a high frequency of MPO-ANCA, showing predominant pANCA by IIF. When rapid renal failure or RPGN with active urine sediments, pulmonary hemorrhage and/or systemic inflammatory manifestations are observed in patients with SSc having positive ANCA, the possibility of MPA should always be considered. If SSc patients with MPA have life-threatening visceral involvement such as the above clinical manifestations, the patients should be treated with induction therapy using cyclophosphamide, methotrexate, corticosteroids, or plasmapheresis, etc. according to the severity of the disease soon after the diagnosis of MPA. It is important not to overlook characteristic clinical manifestations of AAV during the course of the disease in SSc in order to diagnose MPA early.


2016 ◽  
Vol 13 (4-5) ◽  
pp. 72-76
Author(s):  
T V Latysheva ◽  
E A Latysheva ◽  
I A Martynova ◽  
A N Pampura ◽  
G E Aminova

Common variable immunodeficiency (CVID) is the most prevalent clinically important form of primary immunodeficiencies (PID). CVID is characterized by a wide variability of complications which can affect almost all organs and systems. Infectious complications are more typical, but non-infectious complications, in particular granulomatous lymphocytic interstitial lung disease (GLILD), have more strong influence on the course, prognosis and severity of the disease and the patient’s quality of life. GLILD is a challenge not only from a diagnostic point of view (manifestations are often misdiagnosed and treated as sarcoidosis, tuberculosis, lymphoproliferative disease), but also in terms of treatment strategy selection. Rituximab - is one of the most promising methods of GLILD therapy, which showed its efficiency in limited clinical observations. A clinical case of successful treatment of GLILD associated with CVID, using rituximab on the background of a regular replacement immunotherapy with immunoglobulin for intravenous administration (IVIG) is described in this article.


1962 ◽  
Vol 14 ◽  
pp. 169-257 ◽  
Author(s):  
J. Green

The term geo-sciences has been used here to include the disciplines geology, geophysics and geochemistry. However, in order to apply geophysics and geochemistry effectively one must begin with a geological model. Therefore, the science of geology should be used as the basis for lunar exploration. From an astronomical point of view, a lunar terrain heavily impacted with meteors appears the more reasonable; although from a geological standpoint, volcanism seems the more probable mechanism. A surface liberally marked with volcanic features has been advocated by such geologists as Bülow, Dana, Suess, von Wolff, Shaler, Spurr, and Kuno. In this paper, both the impact and volcanic hypotheses are considered in the application of the geo-sciences to manned lunar exploration. However, more emphasis is placed on the volcanic, or more correctly the defluidization, hypothesis to account for lunar surface features.


1984 ◽  
Vol 75 ◽  
pp. 331-337
Author(s):  
Richard Greenberg

ABSTRACTThe mechanism by which a shepherd satellite exerts a confining torque on a ring is considered from the point of view of a single ring particle. It is still not clear how one might most meaningfully include damping effects and other collisional processes into this type of approach to the problem.


Author(s):  
A. Baronnet ◽  
M. Amouric

The origin of mica polytypes has long been a challenging problem for crystal- lographers, mineralogists and petrologists. From the petrological point of view, interest in this field arose from the potential use of layer stacking data to furnish further informations about equilibrium and/or kinetic conditions prevailing during the crystallization of the widespread mica-bearing rocks. From the compilation of previous experimental works dealing with the occurrence domains of the various mica "polymorphs" (1Mr, 1M, 2M1, 2M2 and 3T) within water-pressure vs temperature fields, it became clear that most of these modifications should be considered as metastable for a fixed mica species. Furthermore, the natural occurrence of long-period (or complex) polytypes could not be accounted for by phase considerations. This highlighted the need of a more detailed kinetic approach of the problem and, in particular, of the role growth mechanisms of basal faces could play in this crystallographic phenomenon.


Author(s):  
T. E. Mitchell ◽  
M. R. Pascucci ◽  
R. A. Youngman

1. Introduction. Studies of radiation damage in ceramics are of interest not only from a fundamental point of view but also because it is important to understand the behavior of ceramics in various practical radiation enyironments- fission and fusion reactors, nuclear waste storage media, ion-implantation devices, outer space, etc. A great deal of work has been done on the spectroscopy of point defects and small defect clusters in ceramics, but relatively little has been performed on defect agglomeration using transmission electron microscopy (TEM) in the same kind of detail that has been so successful in metals. This article will assess our present understanding of radiation damage in ceramics with illustrations using results obtained from the authors' work.


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