Genetic Prophecy: Promises and Perils for Late-Onset Diseases

1992 ◽  
Vol 14 (1) ◽  
pp. 6-9 ◽  
Author(s):  
Marie Boutté
Keyword(s):  
At Risk ◽  
Family History ◽  
Late Onset ◽  
Risk Status ◽  
Family Reunion ◽  
Genealogical Analysis ◽  
The Family ◽  
Family Secret ◽  
Screening Clinic ◽  
First Time

In 1975 an unusual family reunion was held at Children's Hospital in Oakland, California. The large Joseph family had gathered for the first time. One of their members had finally taken the family secret to the National Genetics Foundation and asked for help with the unique disease that for many years had been passed in their family from one generation to the next. The National Genetics Foundation sent a team of neurologists and geneticists to the reunion and held the first screening clinic for what became known as Joseph's Disease, and later as Machado-Joseph disease (MJD). Diagnosis of those afflicted with the disease was made from neurological examinations, and at-risk status was determined from family history and genealogical analysis.

Huntington's disease: prediction and prevention

1988 ◽  
Vol 319 (1194) ◽  
pp. 285-298 ◽  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Late Onset ◽  
Predictive Test ◽  
Prediction And Prevention ◽  
Feasible Alternative ◽  
Dna Restriction ◽  
The Individual ◽  
First Time

The identification of a DNA restriction fragment length polymorphism closely linked to Huntington’s disease on the short arm of chromosome 4 has for the first time allowed presymptomatic prediction to be undertaken in first-degree relatives at risk. The late and variable onset of this dominantly inherited disorder makes such prediction a powerful and potentially valuable aid in genetic counselling, but in the absence of effective therapy there are serious ethical reservations concerning such a predictive test. The new developments have stimulated an active and informative debate among professionals and family members on whether and how predictive tests should be used. Guidelines have emerged which should be useful not only for Huntington’s disease, but for other serious late-onset neurogenetic disorders. Meanwhile, studies in Wales and elsewhere have not only confirmed the original linkage but have excluded multi-locus heterogeneity as a significant problem. Genetic prediction for the individual at risk remains critically dependent on a suitable family structure, present in only a minority of families in Wales. A more feasible alternative for most families is prenatal exclusion, which can allow risk prediction for a pregnancy without altering the situation for the person at risk. This approach has already been applied in Wales; the experience gained will be useful in full prediction, which is currently being introduced.

Atypical presentations of non-familial anterior megalophthalmos: a rare disease

2021 ◽  
Vol 14 (10) ◽  
pp. e244350
Author(s):  
Aparna Rao ◽  
Rakhi P Dcruz
Keyword(s):  
Family History ◽  
Late Onset ◽  
Positive Family History ◽  
Late Presentation ◽  
Optic Nerve Damage ◽  
Atypical Features ◽  
The Family ◽  
Anterior Megalophthalmos ◽  
Advanced Glaucoma ◽  
Atypical Presentations

Anterior megalophthalmos usually presents early in life with megalocornea, deep anterior chamber, raised intraocular pressure, glaucomatous optic nerve damage and iridodonesis/stromal thinning with positive family history. We report atypical features and presentations in two patients (four eyes) with non-familial megalophthalmos. While the first patient, a male, presented at 51 years of age with megalocornea, cataract, phacodonesis, normal pupillary dilatation/normal iris and advanced glaucoma, the second patient presented with iridodonesis with stromal thinning, aphakia and advanced glaucoma. The family history was negative in both patients. The vitreous index was unusually high, >70% in all four eyes, owing to aphakia in the second patient and possible late presentation/variant phenotype in the first patient. Thus, atypical features such as greater vitreous length, absent iris involvement and late-onset adult presentation are common in non-familial anterior megalophthalmos. Clinical surprises due to varied phenotypes should be kept in mind in such cases.

scholarly journals Property and inheritance relations in the European law of the 18th century (on the example of the relationship of Ekaterina Dmitrievna Golitsyna with the Cantemir family)

2019 ◽  
Vol 2019 (2) ◽  
pp. 27-41
Author(s):  
Лилия Заболотная ◽  
Lilia Zabolotnaia
Keyword(s):  
Family History ◽  
18Th Century ◽  
Large Family ◽  
European Law ◽  
Family Conflicts ◽  
The Family ◽  
Archival Documents ◽  
Relationship Of ◽  
First Time ◽  
The Relationship

The article describes the specifics of the regulation of property and inheritance relations in Europe in the 18th century. To analyze the peculiarities of resolving property and inheritance disputes, a large family of Dmitry Cantemir was taken, who is known in history as an outstanding Moldavian and Russian statesman (ruler of the Moldavian Principality (1693, 1710– 1711), Most Serene Prince of Russia (1711), Russian Senator (1721) , Privy Councilor (1722)) and scientist. The relationship of the youngest daughter of Dmitry Cantemir, Ekaterina Dmitrievna Golitsyna, with the Cantemir family provides an interesting example of the use of various social norms to resolve family conflicts. The reconstruction of the family history is based on various sources, primarily on archival documents, most of which are introduced into scientific circulation for the first time

scholarly journals CDH1 mutations in gastric cancers are not influenced by family history

2020 ◽  
Author(s):  
Sangjoon Choi ◽  
Jiryeon Jang ◽  
You Jeong Heo ◽  
So Young Kang ◽  
Seung Tae Kim ◽  
...  
Keyword(s):  
Family History ◽  
Early Onset ◽  
Palliative Chemotherapy ◽  
Late Onset ◽  
Diffuse Gastric Cancer ◽  
Survival Difference ◽  
Significant Survival ◽  
The Family ◽  
History Of ◽  
Targeted Deep Sequencing

Abstract Background: CDH1 mutation is the most frequent genetic alteration in hereditary diffuse gastric cancer (GC) and early onset diffuse GC patients. However, the incidence of CDH1 mutations in sporadic GC with or without family history has not been studied. Methods: This retrospective study includes a total of 993 Korean patients with primary advanced GC who underwent surgery and received palliative chemotherapy. Targeted deep sequencing was performed in all cases and family history of GC was searched with survival analysis. Results: We found CDH1 alterations in 146 of 993 patients (14.7%) and 8 were germline (0.8%). Out of 146 patients with CDH1 mutations, 25 (17.1%) had a family history of GC in one of their first relatives, and 12 patients (8.2%) were diagnosed with familial GC (FGC). All cases with FGC were diffuse type by Lauren classification, and only one harbored a previously reported germline mutation of CDH1 (c.2638G>A) and the remaining 11 harbored known somatic CDH1 mutations. Among all patients with CDH1 mutation, there was no significant survival difference between patients with family history or FGC. In the 847 patients without CDH1 mutation, 189 (22.3 %) had a family history of GC and 92 patients (10.9%) were FGC. CDH1 mutations were more frequent in patients with early onset (<45 years) GC (45.5%) compared with patients with late onset GC (10.9%) (p = 0.001), but were not significantly associated with the family history of GC (p > 0.05). Conclusions: CDH1 mutations are mostly somatic and typically are not associated with family history.

The Family History as a Tool to Identify Patients at Risk for Dilated Cardiomyopathy

2008 ◽  
Vol 23 (1) ◽  
pp. 41-44 ◽  
Author(s):  
Deirdre Nauman ◽  
Ana Morales ◽  
Jason Cowan ◽  
Jimena Dagua ◽  
Ray E. Hershberger
Keyword(s):  
At Risk ◽  
Family History ◽  
Dilated Cardiomyopathy ◽  
The Family ◽  
Patients At Risk

Family history record and hereditary cancer risk perception after the creation of a heredofamilial cancer unit in a Spanish hospital.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e12003-e12003
Author(s):  
Ivan Marquez-Rodas ◽  
Sara Perez Ramirez ◽  
Mercedes Cavanagh Podesta ◽  
Beatriz Moya ◽  
Ana Belen Ruperez Blanco ◽  
...  
Keyword(s):  
At Risk ◽  
Family History ◽  
Cancer Risk ◽  
Hereditary Cancer ◽  
Pathology Report ◽  
Chi Square ◽  
The Family ◽  
History Record ◽  
The Creation ◽  
Clinical Records

e12003 Background: A comprehensive family history and consideration of the criteria for hereditary cancer risk are essential for oncology practice, since patients and relatives at risk could benefit from further genetic counseling (GC). The objective of this work is to compare the family history record and the hereditary cancer perception risk according to national cancer institute (NCI) criteria before and after the creation of a heredofamilial cancer unit (HFCU). Methods: We retrospectively analyze the clinical records from new incoming patients of our medical oncology service in two cohorts: Cohort 1, from January 2009 to December 2009 (before HFCU creation); and cohort 2, from May 2010 to August 2010 (first four months after HFCU creation). Family history record (yes/no) and NCI general hereditary cancer criteria (unusually early age; one or more first-degree relatives affected with the same or a related tumor; synchronous, bilateral or metachronous cancer in the same individual; atypical presentations; suggestive pathology report) were collected. Results were compared using chi-square test. p <0.05 was considered significant. Results: The table summarizes the results. In cohort 1, 28% (175/621) of clinical records contained the family history, while in cohort 2 this percentage increased to 54% (92/171), (p<0.001). 17% (106/621) patients in cohort 1 and 23% (40/171) in cohort 2, met NCI risk criteria (N.S.) In cohort 1, 13% (14/106) of these patients were referred to GC, while in cohort 2 this percentage increased to 38% (15/40) (p<0.01). Conclusions: The creation of a multidisciplinary HFCU significantly increased the quality of family history records and the referral of patients at risk to GC. However, the percentages still remain limited and further efforts must be made in order to remark the importance of family history in oncology. [Table: see text]

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.

Buried Narratives: Exhuming the Mother's Story in Oliver Twist

2018 ◽  
Vol 8 (3) ◽  
pp. 247-266
Author(s):  
Michelle L. Wilson
Keyword(s):  
Social Change ◽  
Maternal Inheritance ◽  
The Novel ◽  
Poor Law ◽  
The Family ◽  
The Law ◽  
First Time ◽  
Critical Consideration

Initially, Oliver Twist (1839) might seem representative of the archetypal male social plot, following an orphan and finding him a place by discovering the father and settling the boy within his inheritance. But Agnes Fleming haunts this narrative, undoing its neat, linear transmission. This reconsideration of maternal inheritance and plot in the novel occurs against the backdrop of legal and social change. I extend the critical consideration of the novel's relationship to the New Poor Law by thinking about its reflection on the bastardy clauses. And here, of course, is where the mother enters. Under the bastardy clauses, the responsibility for economic maintenance of bastard children was, for the first time, legally assigned to the mother, relieving the father of any and all obligation. Oliver Twist manages to critique the bastardy clauses for their release of the father, while simultaneously embracing the placement of the mother at the head of the family line. Both Oliver and the novel thus suggest that it is the mother's story that matters, her name through which we find our own. And by containing both plots – that of the father and the mother – Oliver Twist reveals the violence implicit in traditional modes of inheritance in the novel and under the law.

Faktor-Faktor Determinan yang melatar belakangi Kehamilan Remaja di Desa Pandansari Kecamatan Poncokusumo Kabupaten Malang

2020 ◽  
Vol 7 (2) ◽  
pp. 247-255
Author(s):  
Maria Magdalena Setyaningsih ◽  
Emy Sutiyarsih
Keyword(s):  
Sex Education ◽  
Teen Pregnancy ◽  
Teenage Pregnancy ◽  
Well Being ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
The Family ◽  
History Of ◽  
First Time

Kehamilan remaja adalah kehamilan yang terjadi pada remaja berusia kurang dari 20 tahunan. Kehamilan remaja memberikan banyak kerugian bagi kesehatan, mental dan psikologis, kesejahteraan ekonomi dan peluang karier, kemiskinan dan prospek kehidupan masa depan remaja. Tujuan penelitian mengidentifikasi faktor determinan yang melatarbelakangi terjadinya kehamilan remaja. Jenis penelitian adalah penelitian analitik kategorik jenis survei kuantitatif dengan desain case control. Populasi semua perempuan yang bertempat tinggal di wilayah dusun Wonosari, Sukosari, dan Krajan Pandansari dan pernah/sedang hamil pertama kali pada usia kurang dari 20 tahun. Teknik pengambilan sampel cluster random sampling besar sampel 73. Berdasarkan hasil model akhir analisis multivariat, diketahui bahwa variabel pendidikan, riwayat kehamilan remaja pada keluarga dan usia menikah merupakan variabel yang berhubungan dengan kejadian kehamilan remaja setelah dikontrol oleh variabel akses informasi, responden berpendidikan rendah memiliki peluang 20,8 kali lebih tinggi, responden yang memiliki riwayat kehamilan remaja pada keluarga memiliki peluang 14,9 kali lebih tinggi, responden yang menikah pada usia <20 tahun memiliki peluang 12,1 kali lebih tinggi, responden dengan pemahaman yang kurang baik terkait penggunaan kondom memiliki peluang 5,9 kali lebih tinggi untuk terjadi kehamilan remaja. Oleh karena itu perlu dibangun karakter buiding, sosial karakter suport untuk para ibu remaja dan keluarga sehingga terbangun interaksi yang baik dalam keluarga yang dilandasi dengan pendidikan dan pemahaman yang baik tentang Pendidikan seksualitas. Teen pregnancy is a pregnancy that occurs in adolescents aged less than 20 years old. Teen pregnancy provides many disadvantages for health, mental, psychological, economic well-being, career opportunities, poverty, and the future life. The aim of the study was to identify the determinants underlying teen pregnancy incidence. This study was a quantitative study with categorical analytic method. The study design used a case control with two comparison groups. The groups were control group and case group. The population in this study was all women who lived in the Wonosari, Sukosari, and Krajan Pandansari district and had or were pregnant for the first time at the age of less than 20 years old. Seventy three respondents were recruited using cluster sampling technique. The case group consists of women who were or had pregnant for the first time at the age of less than 20 years old and their children are currently aged ≤ 1 years old. The control group consists of women who were pregnant for the first time at the age of > 20 years old. The data was collected using a questionnaire. The findings showed that education, history of teen pregnancy in family and the age of marriage were related to the incidence of teen pregnancy after being controlled by information access. Low-educated respondents had 20.8 times higher chance of experiencing teen pregnancy; respondents with a history of teen pregnancy in the family had 4.9 times higher chance of experiencing teen pregnancy; respondents who were married at the age of < 20 years old had 12.1 times higher chance of experiencing teen pregnancy; respondents with poor understanding of condom use had 5.9 times higher chance of teenage pregnancy. In conclusion, the findings suggest to build good interactions in the family based on education and a good understanding of sex education.

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