scholarly journals Profil Pohon Keluarga (Pedigree) Siswa Dengan Intellectual Disability (Id) Dan Multiple Congenital Anomaly (MCA) Di SLB Negeri Kendal

2020 ◽  
Vol 4 (1) ◽  
pp. 15-21
Author(s):  
Hesty Wahyuningsih ◽  
Anggari Linda Destiana ◽  
Nura Eky Vikawati
Keyword(s):  
Family History ◽  
Autosomal Recessive ◽  
Chromosomal Abnormalities ◽  
Special School ◽  
Counseling Session ◽  
Inheritance Pattern ◽  
Multiple Congenital Anomaly ◽  
Interview Method ◽  
Three Generations ◽  
The Family

Pedigree construction is one of the ways to seek the inheritance pattern of disease. Three generations pedigree has many benefit in genetic counseling session particularly in establishing a specific inheritance pattern such as autosomal recessive or dominant. This research aimed to analyze three generations pedigree in the family of ID and MCA patients in the Special school of Kendal. This is a descriptive observational study using the interview method in 33 student guardians or parents of ID and MCA students. Twenty-five of 33 respondents collects the complete data. This study showed that three generations of pedigree construction of 8 respondents could not conclude the inheritance pattern. The data showed that two pedigree are suspect of chromosomal abnormalities in the presence of family history with similar disorder, family history with ID and MCA, and family history with IUFD or stillbirth. Further investigation using cytogenetics, FISH, and microarray is needed to establish the diagnosis

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

Familial case of Fryns syndrome in two fetuses in second trimester

2018 ◽  
Author(s):  
I.V. Novikova, S.I. Kovalev, E.I. Marakhovskaya
Keyword(s):  
Congenital Anomaly ◽  
Family History ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Autosomal Recessive ◽  
Second Trimester ◽  
Multiple Congenital Anomaly ◽  
Distal Limb ◽  
Limb Deformity ◽  
Recessive Defect

Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with diagnostic triad including diaphragmatic hernia, abnormal face, and distal limb anomalies. Two cases of FS in the fetuses, whose mother had previous affected pregnancy with the infant having diaphragmatic hernia are presented. Both fetuses have atypical limb deformity, ectrodactyly. These cases illustrate the spectrum of FS and the importance of a family history in fetuses with congenital diaphragmatic hernia.

Familial Gliomas

Neurosurgery ◽  
1982 ◽  
Vol 10 (4) ◽  
pp. 445-449 ◽  
Author(s):  
William M. Chadduck ◽  
Martin G. Netsky
Keyword(s):  
Family History ◽  
Chromosomal Abnormalities ◽  
Family Members ◽  
Careful Attention ◽  
Genetic Studies ◽  
The Family ◽  
Cerebral Gliomas ◽  
History Of

Abstract Four families having multiple family members with cerebral gliomas are presented. Genetic studies were done in some, but no chromosomal abnormalities were found in this group of patients or their families. The authors recommend that careful attention be given to the family history of all glioma patients and that more extensive genetic studies be done. The formation of a registry to report cases of familial gliomas is also suggested.

Perinatal Intracranial Hemorrhage as First Manifestation of Congenital Hypofibrinogenemia

1996 ◽  
Vol 2 (1) ◽  
pp. 60-63 ◽  
Author(s):  
Rossella Paolini ◽  
Maria Teresa Sartori ◽  
Francesco Fiorin ◽  
Marino Gorinati ◽  
Giuseppe Boeri ◽  
...  
Keyword(s):  
Family History ◽  
Intracranial Hemorrhage ◽  
Plasma Levels ◽  
Autosomal Recessive ◽  
Phenotypic Expression ◽  
Coagulation Study ◽  
The Family ◽  
Hemorrhagic Tendency ◽  
Congenital Hypofibrinogenemia

We describe a new case of congenital hypofi brinogenemia revealed by the dramatic occurrence of a perinatal intracranial hemorrhage, which resulted in dif fuse multicystic encephalopathy with severe hydroceph alus. The family history was negative for hemorrhagic tendency, but the assessment of a complete coagulation study showed the presence of low fibrinogen coagulant and antigen plasma levels both in the patient and in her 5-year-old healthy sister. Because the hereditary trans mission of the disease is autosomal recessive, similar fi brinogen concentrations were expected in the two af fected sisters. However, the patient showed lower levels than the sister (14 mg/dl and 46 mg/dl, respectively): a different phenotypic expression of the disorder or the dif ferent age of the two sisters could provide some explana tion. Moreover, we emphasize the importance of neonatal coagulative screening for the diagnosis of such defects.

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.

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.

scholarly journals Structural Violence of Schooling: A Genealogy of a Critical Family History of Three Generations of African American Women in a Rural Community in Florida

Genealogy ◽  
2021 ◽  
Vol 5 (1) ◽  
pp. 20
Author(s):  
Evelyn Newman Phillips ◽  
Wangari Gichiru
Keyword(s):  
African American ◽  
Family History ◽  
African American Women ◽  
White Supremacy ◽  
Structural Violence ◽  
The United States ◽  
Structural Barriers ◽  
American Women ◽  
Three Generations ◽  
American Children

Through the lens of structural violence, Black feminism and critical family history, this paper explores how societal structures informed by white supremacy shaped the lives of three generations of rural African American women in a family in Florida during the middle to the late twentieth century. Specifically, this study investigates how disparate funding, segregation, desegregation, poverty and post-desegregation policies shaped and limited the achievement trajectories among these women. Further, an oral historical examination of their lives reveals the strategies they employed despite their under-resourced and sometimes alienating schooling. The paper highlights the experiences of the Newman family, descendants of captive Africans in the United States that produced three college-educated daughters and a granddaughter despite structural barriers that threatened their progress. Using oral history interviews, archival resources and first-person accounts, this family’s story reveals a genealogy of educational achievement, barriers and agency despite racial and gendered limitations in a Southern town. The findings imply that their schooling mirrors many of the barriers that other Blacks face. However, this study shows that community investment in African American children, plus teachers that affirm students, and programs such as Upward Bound, help to advance Black students in marginalized communities. Further, these women’s lives suggest that school curriculums need to be anti-racist and public policies that affirm each person regardless of the color of their skin. A simple solution that requires the structural violence of whiteness be eliminated from the schooling spheres.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

Sign in / Sign up

Export Citation Format

Share Document