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.

Family History of Children with Developmental Language Disorders

1986 ◽  
Vol 63 (2) ◽  
pp. 655-658 ◽  
Author(s):  
Jean Neils ◽  
Dorothy M. Aram
Keyword(s):  
Family History ◽  
Family Members ◽  
Language Disorders ◽  
Normal Control Group ◽  
Control Group ◽  
Reported Speech ◽  
Normal Children ◽  
Developmental Language Disorders ◽  
The Family ◽  
History Of

The present study shows the increased incidence of language-related disorders among family members of children with language disorders. The family histories of 74 children with developmental language disorders and 36 normal children were compared. The children with language disorders had significantly more family members who reported speech, stuttering, reading, and language disorders than the normal control group.

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 Renouncing the World and Taking Ordination

2021 ◽  
Vol 13 (2021/1) ◽  
Author(s):  
Krisztina Teleki
Keyword(s):  
20Th Century ◽  
Dominant Role ◽  
Family Members ◽  
Family Ties ◽  
The Family ◽  
The World ◽  
Monastic Life ◽  
History Of ◽  
Similarities And Differences ◽  
Written Sources

The 20th century brought different periods in the history of Mongolia including theocracy, socialism and democracy. This article describes what renouncing the world (especially the home and the family), taking ordination, and taking monastic vows meant at the turn of the 20th century and a century later. Extracts from interviews reveal the life of pre-novices, illustrating their family backgrounds, connections with family members after ordination, and support from and towards the family. The master-disciple relationship which was of great significance in Vajrayāna tradition, is also described. As few written sources are available to study monks’ family ties, the research was based on interviews recorded with old monks who lived in monasteries in their childhood (prior to 1937), monks who were ordained in 1990, and pre-novices of the current Tantric monastic school of Gandantegčenlin Monastery. The interviews revealed similarities and differences in monastic life in given periods due to historical reasons. Though Buddhism could not attain its previous, absolutely dominant role in Mongolia after the democratic changes, nowadays tradition and innovation exist in parallel.

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.

632 Family History of Children Diagnosed with Obstructive Sleep Apnea

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A248-A248
Author(s):  
Kristi Porterfield-Pruss ◽  
Denise Willis ◽  
Beverly Spray ◽  
Supriya Jambhekar
Keyword(s):  
Family History ◽  
Family Members ◽  
Biological Father ◽  
Medical Problems ◽  
Obstructive Sleep ◽  
Familial Association ◽  
History Of ◽  
The Mean ◽  
Relationship Of ◽  
The Relationship

Abstract Introduction Limited evidence suggests a familial association of OSA. It is not known how often children who require positive airway pressure (PAP) devices have a family member with OSA or that requires PAP. It is felt that PAP adherence in children is affected by PAP adherence in parents. We wanted to explore the relationship of OSA in children requiring PAP to OSA in immediate family members as well as the association of obesity and adherence between children and family members. Methods Caregivers of children who utilize PAP devices at home were invited to complete an electronic questionnaire regarding family history of OSA. Descriptive statistics were utilized to summarize results. Results The study was completed by 75 participants. The majority of children were male (64%, 48/75), black (47%, 35/75) and non-Hispanic (88%, 66/75). The mean age was 11.8 years (median 13) and mean BMI was 32.8 (median 29.8). The mean AHI on the diagnostic polysomnogram was 28.4 events per hour (median 15.3). Mean adherence to PAP > 4 hours per night was 56.5 (Median 68.2). Most, 87% (65/75), have other underlying medical problems. Twenty-four percent (18/75) have a biological father with OSA of whom 61% (11/18) are considered moderately/extremely obese. Of mothers, 13% (10/75) have OSA and 70% (7/10) are obese. Overall, 29% (22/75) had either a paternal (11%, 8/75) or maternal (19%, 14/75) grandfather with OSA of which 36% (8/22) are obese. For grandmothers, 31% (23/75) have OSA and 22% (5/23) are obese with more being paternal (19%, 14/75) compared to maternal (12%, 9/75). Of the 73 total family members reported to have OSA, 86% (63/73) use PAP and most (65%, 41/63) use it for > 4 hours every night. Few participants had siblings with OSA. Conclusion There were more fathers with OSA than mothers, but mothers were reported to be obese more often. Grandparents were reported to have OSA but were reported to be obese less often than parents. Maternal grandparents with OSA were reported to be obese more than paternal grandparents. The majority of family members with OSA who use CPAP report nightly use. Support (if any):

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