Three Cases of Polydactylism [Tre Cast di Polidactilia]. (Arch, di Psichiat vol. xxii, fasc. 6.) Portigliotti

1902 ◽  
Vol 48 (201) ◽  
pp. 345-345
Author(s):  
W. C. Sullivan
Keyword(s):  
Family History ◽  
The Other ◽  
The Third ◽  
Three Generations ◽  
The Family ◽  
History Of ◽  
Hands And Feet

The three cases of this anomaly reported by the author, were met with in a population of about 2700 persons. In two of the cases, both hands and feet presented six digits; in the third case the condition existed in the feet only. An exhaustive examination of the family history of the cases through three generations failed to disclose any hereditary tendency to polydactylism or any degenerative taint. In only one of the cases were the parents of kin second cousins. One of the subjects was above the average in intelligence, the other two were somewhat weak-minded.

Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene

2009 ◽  
Vol 29 (02) ◽  
pp. 187-189 ◽  
Author(s):  
L. Kochhan ◽  
P. Heuchel ◽  
J. Jenderny ◽  
B. Maak
Keyword(s):  
Family History ◽  
Reference Range ◽  
The Other ◽  
Paternal Allele ◽  
Thrombin Time ◽  
Base Exchange ◽  
Coagulation Study ◽  
The Family ◽  
Prolonged Aptt ◽  
History Of

SummaryA 14 year old boy was referred to us for a detailed coagulation study because a previously performed aPTT has been found prolonged. The boy had no history of bleeding symptoms and also the family history was negative for bleeding or thrombotic events. The aPTT in the patient was 96 s (reference range: 24–36 s), prothrombin time and thrombin time were both normal.As the cause for the prolonged aPTT we identified a severe prekallikrein deficiency (prekallikrein activity < 1%). The prekallikrein deficiency results from two mutations in the KLKB 1-gene: first, an insertion of 1 bp in codon 149 in exon 5 and, second, a base exchange Cys 548 (TGC) > Tyr (TAC) in exon 14. The boy inherited the first mutation from his father and the second from his mother. The mutation in the paternal allele was not described before the completion of our study. There are two brothers of the propositus, one with normal prekallikrein activity and no mutations in the KLKB1-gene, the other showed the same constellation as the propositus.

Some Considerations regarding the Family History of Insanity in the Highlands

1915 ◽  
Vol 61 (252) ◽  
pp. 95-98
Author(s):  
T. C. Mackenzie
Keyword(s):  
Family History ◽  
The Other ◽  
Other Hand ◽  
The Family ◽  
History Of ◽  
Degree Of Isolation

The Inverness Lunacy District, which was formed after the passing of the Lunacy Act of 1857, comprises the four counties of Nairn, Inverness, Ross, and Sutherland, and is of very large extent. Its area is, roughly, one-third of the total area of Scotland, and includes the greater part of the Highlands. Its population, on the other hand, is extremely sparse, and has been steadily decreasing during the last fifty years. It is a district in which there has been much intermarriage of relatives, and which is less open and accessible than most of the rest of Scotland to the factors that have brought about such great changes in the general life of the country during the last fifty years. In recent years, however, the extension of railways, and the wide use of motor cars, have done much to diminish this degree of isolation and remoteness.

“Appear gorgeous, quiet Osuga…”: originality of country “estate topos” in Dmitry Merezhkovsky’s play “Romantics”

2020 ◽  
pp. 228-238
Author(s):  
Elena A. Andrushchenko ◽  
Keyword(s):  
Family History ◽  
Point Of View ◽  
The Other ◽  
Other Hand ◽  
The Family ◽  
History Of ◽  
The Creation ◽  
The Rich ◽  
Rich Material ◽  
The One

D.S. Merezhkovsky’s play “Romantics” (1917) rarely attracts a researcher’s interest, although it is a notable attempt to revisit the rich material on the family history of the Bakunins contained in A.A. Kornilov’s work “Mikhail Bakunin’s young years. From the history of Russian romanticism” (1915). Merezhkovsky’s “bookishness” in the play is apparent in the creation of the idyllic image of Pryamukhino, where he relied on Kornilov’s book and composed a stylization, in which he handled “someone else’s” text and “point of view”. The stylization is reflected in the “estate topos”, which acts as a decoration for the characters’ intellectual aspirations. Coupled with intertext and mythopoetics, it establishes a myth of the intelligentsia’s religious communality, which Merezhkovsky had been developing in his fiction and public writings of those years. These have common motives of paradise, sacrifice, celibacy, unconscious Christianity, duality, detachment. The properties of the “estate topos” in “Romantics” are such that, on the one hand, it is related to the source, while on the other hand each of its elements is integrated into a particular sequence identifiable by its purpose in “estate” literature. This purports to reflect the reality, but is actually the reflection of its reflection; it binds the events to a concrete time and space, yet also affirms the idea of a timeless, universal realization, which is in line with Merezhkovsky’s mythopoetic creative consciousness.

scholarly journals Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Functional Characterization ◽  
The Family ◽  
Novel Variant ◽  
History Of ◽  
Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

Association between gastric cancer and the family history of gastric cancer

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Hyo Geun Choi ◽  
Wook Chun ◽  
Kuk Hyun Jung
Keyword(s):  
Gastric Cancer ◽  
Family History ◽  
The Family ◽  
History Of

Neo-Royalists in the Third Republic. The History of Origin and Formation of the “Action française”

2020 ◽  
Vol 65 ◽  
pp. 492-504
Author(s):  
Sergey V. Zelenin
Keyword(s):  
Third Republic ◽  
The Other ◽  
Present Review ◽  
Life Activity ◽  
The Third ◽  
Concise Review ◽  
French Writer ◽  
History Of ◽  
The Right

The present review is devoted to Vasiliy Molodyakov’s book “Charles Morraus and the “Action française” against Germany: from Kaiser to Hitler”. The review examines the main thoughts and postulates of the book. The book represents the first part of the trilogy on the life, activity and views of the French writer, publicist ad thinker Charles Morraus, as well as on the history of the right monarchic movement “Action française”. The article also gives a concise review of the other works of this author.

The experience of non-traditional study of the poetics of literary works (on the example of the book “Fontanelle” by Meir Shalev)

2021 ◽  
pp. 58-75
Author(s):  
Vadim Markovich Rozin
Keyword(s):  
New World ◽  
Human Life ◽  
Literary Work ◽  
The Third ◽  
The Family ◽  
Gradual Development ◽  
History Of ◽  
Family And Marriage ◽  
Nontraditional Approach ◽  
Empirical Material

This article offers a nontraditional approach towards studying the poetics of literary work, which considers personality of the reader and analysis of the reality that he reconstructs and experiences. The empirical material is comprised on the authorial analysis of the poetics of Meir Shalev's novel &ldquo;Fontanelle&rdquo;. This literary work features the four major themes: love of the protagonist Michael, creation of the new world from its inception, the characteristic of life values of a person, and discussion of the peculiarities of reality that Meir Shalev builds as an artist. In the first theme, the author reveals several images of love, reflecting on the mystical love of the protagonist for the young woman Ana, love in the family and marriage, love for children. At the same time, the author discusses not only the way that Meir Shalev understands and describes love in &ldquo;Fontanelle&rdquo;, but also talks about the own interpretation of love. In the plotline of the second theme, the author also distinguishes two lines: the story the protagonist&rsquo;s grandfather Apupa, who carries his beloved Amuma on his shoulders across the country, seeking a place where they could create a home and family; and the story of gradual development of a small settlement into a city, created by Apupa and Amuma on the mountain, and several Jewish families at the lower valley. Discussing in the third topic the anchors of human life, the author emphasizes such values as effort, love, family and family line, creativity, indicating that Michael is not alone, he is loved, he gets involved in family history, as well as the history of Israel and Jewish culture, drawing strength in the heroes of this story. The last part of the article gives characteristic to the reality of &ldquo;Fontanelle&rdquo; and explains why the author liked it.

scholarly journals Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic

2014 ◽  
Vol 8 (11-12) ◽  
pp. 783 ◽  
Author(s):  
Richard Walker ◽  
Alyssa Louis ◽  
Alejandro Berlin ◽  
Sheri Horsburgh ◽  
Robert G. Bristow ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
High Risk ◽  
Prostate Cancer Screening ◽  
Brca2 Mutation ◽  
Aggressive Disease ◽  
Mutation Carriers ◽  
The Family ◽  
History Of ◽  
Prevention Clinic

Introduction: The prostate-specific antigen (PSA) era and resultant early detection of prostate cancer has presented clinicians with the challenge of distinguishing indolent from aggressive tumours. Mutations in the BRCA1/2 genes have been associated with prostate cancer risk and prognosis. We describe the prostate cancer screening characteristics of BRCA1/2 mutation carriers, who may be classified as genetically-defined high risk, as compared to another high-risk cohort of men with a family history of prostate cancer to evaluate the utility of a targeted screening approach for these men.Methods: We reviewed patient demographics, clinical screening characteristics, pathological features, and treatment outcomes between a group of BRCA1 or BRCA2 mutation carriers and age-matched men with a family history of prostate cancer followed at our institutional Prostate Cancer Prevention Clinic from 1995 to 2012.Results: Screening characteristics were similar between the mutation carriers (n = 53) and the family history group (n = 53). Some cancers would be missed in both groups by using a PSA cut-off of >4 ug/L. While cancer detection was higher in the family history group (21% vs. 15%), the mutation carrier group was more likely to have intermediate- or high-risk disease (88% vs. 36%). BRCA2 mutation carriers were more likely to have aggressive disease, biological recurrence, and distant metastasis.Conclusions: In our cohort, regular screening appears justified for detecting prostate cancer in BRCA1 and BRCA2 carriers and other high-risk populations. Lowering PSA cut-offs and defining monitoring of PSA velocity as part of the screening protocol may be useful. BRCA2 is associated with more aggressive disease, while the outcome for BRCA1 mutation carriers requires further study. Large multinational studies will be important to define screening techniques for this unique high-risk population.

scholarly journals Familial Atypical Hemolytic Uremic Syndrome with Positive pS1191L (c.3572C> T) Mutation in CFH A Single-Center Experience

2019 ◽  
Author(s):  
Fadime ERSOY DURSUN ◽  
Gözde YESIL ◽  
Hasan DURSUN ◽  
Gülşah SASAK
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Family History ◽  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Gene Mutations ◽  
Factor H ◽  
The Other ◽  
History Of ◽  
Uremic Syndrome

Abstract Background: Atypical hemolytic uremic syndrome is a condition characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury, which can exhibit a poor prognosis. Gene mutations play a key role in this disease, which may be sporadic or familial. Methods: We studied, 13 people from the same family were investigated retrospectively for gene mutations of familial atypical hemolytic uremic syndrome after a patient presented to our emergency clinic with atypical hemolytic uremic syndrome and reported a family history of chronic renal failure. Results: The pS1191L mutation in the complement factor H gene was heterozygous in 6 people from the family of the patient with atypical hemolytic uremic syndrome. One of these people was our patient with acute renal failure and the other two are followed up by the Nephrology Clinic due to chronic renal failure. The other 3 persons showed no evidence of renal failure. The index case had a history of 6 sibling deaths; two of them died of chronic renal failure. Plasmapheresis and fresh frozen plasma treatment was given to our patient. When patient showed no response to this treatment, eculizumab therapy was started. Conclusions: The study demonstrated that a thorough family history should be taken in patients with atypical hemolytic uremic syndrome. These patients may have familial type of the disease and they should be screened genetically. Eculizumab should be the first choice in the treatment with plasmapheresis. It should be kept in mind that the use of eculizumab as prophylaxis in post-transplant therapy is extremely important for prevention of rejection.

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