Contributo allo studio dell'ereditarietà della S. di Marfan. Descrizione di un albero genealogico di quattro generazioni con un matrimonio fra consanguinei affetti

1959 ◽  
Vol 8 (4) ◽  
pp. 455-482 ◽  
Author(s):  
L. Capotorti ◽  
R. Gaddini De Benedetti ◽  
P. Rizzo
Keyword(s):  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
General Medicine ◽  
Severe Form ◽  
Point Of View ◽  
Sufficient Evidence ◽  
Continuous Increase ◽  
General Picture ◽  
Ectopia Lentis ◽  
Skeletal Malformations

SUMMARYThe AA. have studied the pedigree of a family with Marfan's Syndrome (M.S.) including 90 persons of four generations. 37 subjects were examined both from a general and from an ophcalmological point of view. Furthermore reliable informations have been obtained about 13 more subjects related with them. Out of the total of 50 persons about whom the A A. have gathered sufficient evidence, 22 turned out to be affected by « ectopia lentis », 20 by various skeletal malformations, all of them included in the general picture of M.S. In 5 more cases some signs of cardiac involvement have been found. The percentage of affected subjects in the whole family was 40%, whereas the hereditary transmission of this syndrome appeared to be typical of a presumably single autosomal dominant character.This is the first report in the literature of a consanguineous marriage between two subjects both affected by M.S. Out of 9 children who were born from this couple, 4 presented the M.S. (2 of them in a particularly severe form), 3 died during infancy, one was a stillborn and only one was a healthy individual.The number of cases of this syndrome described in the medical literature is in continuous increase. Furthermore the growing prominence it is assuming in general medicine, owing to the skeletal, cardiac and vascular anomalies, stimulates to a more thorough knowledge of its hereditary transmission, in the hope of achieving a useful social prophylaxis.

scholarly journals Marfan Syndrome with Bilateral Retinal Detachment

2015 ◽  
Vol 13 (2) ◽  
pp. 52-54 ◽  
Author(s):  
Chunu Shrestha ◽  
Varun Shrestha
Keyword(s):  
Family History ◽  
Retinal Detachment ◽  
Surgical Technique ◽  
Marfan Syndrome ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Syndrome Patient ◽  
Ectopia Lentis ◽  
Ocular Manifestations ◽  
Systemic Disorder

Marfan syndrome is an autosomal dominant systemic disorder of connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, hearts, and the large blood vessels. It is described by Antoine Marfan in 1896. Aortic root aneurysm and ectopia lentis are the cardinal features. In the absence of family history, the presence of these two manifestations is sufficient for confirmatory diagnosis of Marfan syndrome. Patient with ocular manifestations should be screened for cardiac involvement to support diagnosis. Retinal detachment is a potentially dangerous manifestation for its sight threatening nature. There is no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications. Recent advances in diagnosis, improved surgical technique and application of prophylaxis has contributed in preservation of sight in such patients.  

scholarly journals Cardiac Involvement in Autosomal Dominant Polycystic Kidney Disease

2021 ◽  
Vol 11 (2) ◽  
pp. 39-49
Author(s):  
Letizia Spinelli ◽  
Giuseppe Giugliano ◽  
Giovanni Esposito
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Clinical Studies ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Science Studies ◽  
Cardiovascular Disorders ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Main Complication

Cardiovascular disorders are the main complication in autosomal dominant polycystic kidney disease (ADPKD). contributing to both morbidity and mortality. This review considers clinical studies unveiling cardiovascular features in patients with ADPKD. Additionally, it focuses on basic science studies addressing the dysfunction of the polycystin proteins located in the cardiovascular system as a contributing factor to cardiovascular abnormalities. In particular, the effects of polycystin proteins’ deficiency on the cardiomyocyte function have been considered.

scholarly journals FEBID 3D-Nanoprinting at Low Substrate Temperatures: Pushing the Speed While Keeping the Quality

Nanomaterials ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1527
Author(s):  
Jakob Hinum-Wagner ◽  
David Kuhness ◽  
Gerald Kothleitner ◽  
Robert Winkler ◽  
Harald Plank
Keyword(s):  
Volume Growth ◽  
Point Of View ◽  
High Fidelity ◽  
Direct Write ◽  
General Picture ◽  
3D Space ◽  
Design Flexibility ◽  
Substrate Temperatures ◽  
Very High ◽  
Comprehensive Discussion

High-fidelity 3D printing of nanoscale objects is an increasing relevant but challenging task. Among the few fabrication techniques, focused electron beam induced deposition (FEBID) has demonstrated its high potential due to its direct-write character, nanoscale capabilities in 3D space and a very high design flexibility. A limitation, however, is the low fabrication speed, which often restricts 3D-FEBID for the fabrication of single objects. In this study, we approach that challenge by reducing the substrate temperatures with a homemade Peltier stage and investigate the effects on Pt based 3D deposits in a temperature range of 5–30 °C. The findings reveal a volume growth rate boost up to a factor of 5.6, while the shape fidelity in 3D space is maintained. From a materials point of view, the internal nanogranular composition is practically unaffected down to 10 °C, followed by a slight grain size increase for even lower temperatures. The study is complemented by a comprehensive discussion about the growth mechanism for a more general picture. The combined findings demonstrate that FEBID on low substrate temperatures is not only much faster, but practically free of drawbacks during high fidelity 3D nanofabrication.

scholarly journals Two Cases of Tuberous Sclerosis With Multiple Rhabdomyoma Succumbing to Sudden Cardiac Death

2021 ◽  
pp. 263246362110124
Author(s):  
Manjappa Mahadevappa ◽  
Vikram Patil ◽  
K.S. Poornima ◽  
Sowmya Velamala ◽  
B.V. Guruprasad
Keyword(s):  
Sudden Cardiac Death ◽  
Tuberous Sclerosis ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Specific Treatment ◽  
Organ Systems ◽  
Dominant Condition ◽  
Variable Penetrance

Tuberous sclerosis complex is an autosomal dominant condition with variable penetrance. It is characterized by tuberose deposits in various organ systems. Although clinical features predominate neurocutaneous manifestations, cardiac, kidney, and lung involvement are common. Cardiac involvement is marked by the presence of multiple rhabdomyomas and in some cases arrhythmias. In the absence of symptoms, rhabdomyomas require no specific treatment. However, cardiac arrhythmias are unpredictable and may be the cause of sudden cardiac death in some cases. Although treatment is mainly symptomatic, drugs like rapamycin have shown promise in the regression of astrocytomas and angiofibromas. Here, we are reporting two cases of tuberous sclerosis of which one succumbed to arrhythmias and the other to possible sudden cardiac death.

scholarly journals Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

2018 ◽  
Vol 76 (8) ◽  
pp. 555-562 ◽  
Author(s):  
Carlos Roberto Martins Junior ◽  
Fabrício Castro de Borba ◽  
Alberto Rolim Muro Martinez ◽  
Thiago Junqueira Ribeiro de Rezende ◽  
Iscia Lopes Cendes ◽  
...  
Keyword(s):  
Clinical Features ◽  
Autosomal Dominant ◽  
Trinucleotide Repeat ◽  
Point Of View ◽  
Spinocerebellar Ataxias ◽  
Coding Region ◽  
The Past ◽  
Monogenic Diseases ◽  
Repeat Expansions ◽  
Core Features

ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1.

Indian Merchant Networks Outside India in the Nineteenth and Twentieth Centuries: A Preliminary Survey

1999 ◽  
Vol 33 (4) ◽  
pp. 883-911 ◽  
Author(s):  
Claude Markovits
Keyword(s):  
South Asian ◽  
Point Of View ◽  
Diaspora Studies ◽  
South Asian Diaspora ◽  
General Picture ◽  
Asian Diaspora ◽  
South Asian History ◽  
The Usa ◽  
Asian History ◽  
First World

In spite of the recent flowering of studies on the South Asian diaspora, we are nevertheless left with many gaps in our knowledge and many unanswered questions. The bulk of existing work is still focused on the migration of agricultural labour and the ‘Little Indias’ it spawned in various corners of the world. The recent migrations of educated professionals to the countries of the ‘First World’, particularly the USA, are also attracting increasing attention. The whole field of migration and diaspora studies remains, however, dominated by a host country perspective which tends to obliterate the general picture from the point of view of South Asian history.

scholarly journals Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects

2020 ◽  
Vol 10 (12) ◽  
pp. 952
Author(s):  
Massimo Russo ◽  
Luca Gentile ◽  
Antonio Toscano ◽  
M’Hammed Aguennouz ◽  
Giuseppe Vita ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Progressive Disease ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
State Of The Art ◽  
Multiple Organ ◽  
Regulatory Agencies ◽  
Motor Neuropathy ◽  
Dominant Trait ◽  
Autosomal Dominant Trait

Hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy is a progressive disease that is transmitted as an autosomal dominant trait and characterized by multiple organ failure, including axonal sensory-motor neuropathy, cardiac involvement, and autonomic dysfunction. Liver transplantation (LT) and combined heart–liver transplantation, introduced in the 1990s, have been the only therapies for almost two decades. In 2011, tafamidis meglumine became the first specific drug approved by regulatory agencies, since then the attention toward this disease has progressively increased and several drugs with different mechanisms of action are now available. This review describes the drugs already on the market, those that have shown interesting results although not yet approved, and those currently being tested.

India Realigns

Worldview ◽  
1972 ◽  
Vol 15 (5) ◽  
pp. 35-41
Author(s):  
Ashok Kapur
Keyword(s):  
Foreign Policy ◽  
Point Of View ◽  
Policy Area ◽  
General Picture ◽  
The Past ◽  
Political Ties ◽  
Alliance System ◽  
Indian Foreign Policy

In the past two decades most discussions about Indian foreign policy dealt with the nature and limitations of nonalignment. The discussions usually had an air of remoteness. In American perceptions, India as a policy area was peripheral to America's immediate political and strategic interests. Even when humanitarian motives were invoked as factors for political consideration there was a feeling that India was too bulky, too riddled with immense problems. Thus, Americans were never sure whether intimate political ties with India were probable or even desirable from America's point of view. If this was the general picture accepted by liberals in America, conservatives asserted that India was “wishy-washy” toward the Communist bloc. India's refusal to join the American alliance system confirmed this suspicion.

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