Antithrombin III Alger: A New Homozygous AT III Variant

1986 ◽  
Vol 55 (02) ◽  
pp. 218-221 ◽  
Author(s):  
A M Fischer ◽  
P Cornu ◽  
C Sternberg ◽  
F Mériane ◽  
M D Dautzenberg ◽  
...  
Keyword(s):  
Family History ◽  
Antithrombin Iii ◽  
Antigen Concentration ◽  
Crossed Immunoelectrophoresis ◽  
The Family ◽  
At Iii ◽  
Molecular Abnormality ◽  
Slow Moving ◽  
Cofactor Activity ◽  
Plasma Heparin

SummaryA qualitative abnormality of antithrombin III (AT III) was found in the plasma of a 41-year old patient. The plasmatic AT III antigen concentration was 130% and the progressive anti-F IIa and anti-F Xa activities were normal (105% and 137%). The plasma heparin cofactor activity was less than 10%, when measured by F Ila or F Xa inhibition. Crossed immunoelectrophoresis of AT III in the presence of heparin revealed in the plasma an abnormal slow-moving peak. When tested by affinity chromatography on heparin Sepharose, this abnormal AT III did not bind to heparin. Among the investigated relatives, 5 subjects had normal AT III levels, whatever the test used, the nine others having reduced levels of antithrombin heparin cofactor activity (45-61%) but normal levels of immunoreactive AT III (97-122%). Consanguinity was found in the family history. We therefore considered our patient as homozygous for an AT III molecular abnormality affecting the binding site for heparin.

The Dupont family: collectors, dealers and naturalists in nineteenth-century Paris

2016 ◽  
Vol 43 (2) ◽  
pp. 191-207 ◽  
Author(s):  
Richard Mearns ◽  
Laurent Chevrier ◽  
Christophe Gouraud
Keyword(s):  
Nineteenth Century ◽  
Family History ◽  
Natural History ◽  
North Africa ◽  
Special Interest ◽  
Early Life ◽  
Anatomical Models ◽  
The Family ◽  
Small Collection

In the early part of the nineteenth century the Dupont brothers ran separate natural history businesses in Paris. Relatively little is known about their early life but an investigation into the family history at Bayeux corrects Léonard Dupont's year of birth from 1795 to 1796. In 1818 Léonard joined Joseph Ritchie's expedition to North Africa to assist in collecting and preparing the discoveries but he did not get beyond Tripoli. After 15 months he came back to Paris with a small collection from Libya and Provence, and returned to Provence in 1821. While operating as a dealer-naturalist in Paris he published Traité de taxidermie (1823, 1827), developed a special interest in foreign birds and became well known for his anatomical models in coloured wax. Henry Dupont sold a range of natural history material and with his particular passion for beetles formed one of the finest collections in Europe; his best known publication is Monographie des Trachydérides (1836–1840). Because the brothers had overlapping interests and were rarely referred to by their forenames there has been confusion between them and the various eponyms that commemorate them. Although probably true, it would be an over-simplification to state that birds of this era named for Dupont refer to Léonard Dupont, insects to Henry Dupont, and molluscs to their mother.

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.

FAMILY TENSION AS A CAUSE OF COLIC IN INFANTS

PEDIATRICS ◽  
1956 ◽  
Vol 18 (5) ◽  
pp. 835-836
Author(s):  
John C. Cobb
Keyword(s):  
Family History ◽  
Allergic Disease ◽  
Family Members ◽  
Clinical Impression ◽  
Family Histories ◽  
The Family

A study of colic in infancy was undertaken as part of the Yale Rooming-In Project. The longitudinal records of 98 infants who were study subjects were analyzed with respect to incidence, duration, and severity of colic. Forty-eight of the infants were classified as fussy or colicky and 50 as contented. Because I had formed the clinical impression that allergy was an important contributing factor in the causation of colic, careful family histories were taken for all of these infants with particular attention to allergic disease in any member of either parent's family. An adequate family history was obtained in 95 of these infants. These data were analyzed both according to the incidence of allergic disease and according to the severity of allergic disease in family members. Among the relatives of the 45 "fussy" or "colicky" infants 7.3 per cent had severe allergy, 17.7 pen cent had mild allergy and 74 per cent had little or no allergy. Among the relatives of the 50 contented infants 7.6 per cent had severe allergy, 14.7 per cent had mild allergy and 77 per cent had no allergy. The family histories included a total of 957 relatives. The 45 families of the babies who were fussy or colicky were divided as follows as to amount of allergy among the relatives. In 7 families there was much allergy, in 30 families there was some allergy and in 8 families there was little or no allergy. The [See Table I in Source PDF] families of the 50 contented infants were divided as follows, in 7 families there was much allergy, in 33 there was some allergy and in 10 there was little on no allergy.

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

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 Analysis of Factors Causing Appearance of Food Hypersensitivity in Toddlers

2021 ◽  
Vol 6 (2) ◽  
pp. 101-107
Author(s):  
O. I. Matsyura ◽  
◽  
Keyword(s):  
Family History ◽  
Young Children ◽  
Bronchial Asthma ◽  
Skin Diseases ◽  
Positive Family History ◽  
Correlation Coefficients ◽  
Food Hypersensitivity ◽  
Pathogenetic Mechanisms ◽  
The Family ◽  
The City

Food hypersensitivity is a reaction to the food consumed, regardless of the pathogenetic mechanisms that cause the symptoms. It is an actual and controversial problem in pediatric practice. Nowadays there is an active search for the causes of disease progression, a large role is given to the study of genetic and external factors (food, environmental, social). This disease arises many questions due to the similarity of the clinical representation in different kinds of food hypersensitivity and in different pathogenetic mechanisms, which are involved. The purpose of the study is to perform the analysis of factors, which cause appearance of food hypersensitivity in toddlers. Materials and methods. A study of the number of children with food intolerance was conducted using a specially compiled questionnaire. Thus, 4,500 questionnaires were distributed in pre-school and medical establishments to question parents. Results and discussion. Analysis of 3,214 questionnaires was conducted, which enabled to obtain information from parents on anamnesis and living conditions of toddlers. Values of 56 factors were analyzed, calculating correlation coefficients with a formation of food hypersensitivity for each of them. Statistical analysis allowed distinguishing 15 signs among these factors, which significantly correlated with the formation of food hypersensitivity in young children. The investigation enabled not only to detect factors that affect formation of food hypersensitivity in young children, but also to suggest a mathematical model of individual calculation of risk factors for this pathology. Data of conducted mathematical analysis can be used for elaboration of a complex of prophylaxis measures on development of food hypersensitivity in toddlers. Conclusion. The formation of hypersensitivity to cow's milk in children is provoked by the presence of contact reactions in the child, adverse reactions after medication, positive family history (bronchial asthma in relatives, skin diseases in parents (father and / or mother)), smoking in the family, living in the city; at the same time, preventive factors are living in an apartment, in a new building, in a dry apartment. The formation of food hypersensitivity in young children is generally provoked by a positive family history (bronchial asthma, hay fever, urticaria, diseases of the stomach and duodenum in relatives, skin diseases in parents), smoking in the family; frequent consumption of food in a mass catering points; living in the city plays a preventive role

Sign in / Sign up

Export Citation Format

Share Document