A French family study of two groups of alcoholic men

1992 ◽  
Vol 7 (2) ◽  
pp. 61-69
Author(s):  
F Amiel-Lebigre ◽  
M Duyme ◽  
S Tordjman
Keyword(s):  
Family History ◽  
Family Study ◽  
Age Of Onset ◽  
Age At Onset ◽  
Psychiatric History ◽  
The Family ◽  
History Of ◽  
French Family ◽  
Second Degree

SummaryAlcoholic and psychiatric family history were investigated in two groups of alcoholics, recruited differently, and controls. Alcoholics with or without a family history of alcoholism (AFH + and AFH − ) were compared with regard to professional qualifications, personal psychiatric history, age at onset and reasons given for becoming alcoholic. The results can be summarized as follows: the family ‘aggregate’ of alcoholism found was independent of the recruitment. This was not the case for personal psychiatric history for which a gradient was found in the two alcoholic groups. Rates of alcoholism were higher in both the first and second degree relatives. Alcoholics with AFH+ and AFH− differed significantly with regard to inducement by profession, and tended to differ as to age of onset.

scholarly journals Younger age of patients with myocardial infarction is associated with a higher number of relatives with a history of premature atherosclerosis

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Michał Ambroziak ◽  
Katarzyna Niewczas-Wieprzowska ◽  
Agnieszka Maicka ◽  
Andrzej Budaj
Keyword(s):  
Myocardial Infarction ◽  
Family History ◽  
Young People ◽  
Ischaemic Stroke ◽  
Premature Coronary Artery Disease ◽  
Premature Atherosclerosis ◽  
Younger Age ◽  
The Family ◽  
History Of ◽  
Second Degree

Abstract Background Premature coronary artery disease is one of the most pressing global issues in modern cardiology. The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients aged < 50 years with myocardial infarction (MI) compared to that in patients aged ≥50 years with MI and to that in young people without MI (no-MI < 50). Methods The studied group (MI < 50) consisted of 240 patients aged 26–49 years with MI. The control groups consisted of 240 patients (MI ≥ 50) with MI aged 50–92 years and 240 healthy people aged 30–49 years without a history of MI (no-MI < 50). Results There were statistically significant differences between the MI < 50 and MI ≥ 50 and no-MI < 50 groups regarding the family history of premature MI/ischaemic stroke and the percentage of patients with ≥2 relatives affected (10.8, 2.9, and 3.7%, respectively; p < 0.0001). There was a statistically significant difference in the patient age at the first MI occurrence among patients without a family history of premature CVD, those with 1 affected relative, and those with ≥2 affected first-degree relatives (56.6, 48.6 and 41.8 years, respectively) as well as those with affected first- and second-degree relatives (56.5, 50.7 and 47.0 years, respectively). Conclusions A younger age of patients with myocardial infarction is associated with a higher number of relatives with a history of premature MI/ischaemic stroke. Thus, the family history of premature atherosclerosis involving not only first- but also second-degree relatives seems to be a valuable factor in CVD risk evaluation in young people. Graphical Abstract

scholarly journals Association of family history of schizophrenia and history of obstetric complications at birth: relationship with age at onset and psychopathology dimensions in a Nigerian cohort

2020 ◽  
Vol 20 (2) ◽  
pp. 697-708
Author(s):  
Justus Uchenna Onu ◽  
Jude Uzoma Ohaeri
Keyword(s):  
Risk Factor ◽  
Family History ◽  
Independent Risk Factor ◽  
Age At Onset ◽  
Obstetric Complications ◽  
Symptom Dimensions ◽  
Clinical Phenotypes ◽  
The Family ◽  
Psychopathological Symptom ◽  
History Of

Background: The nature of the association between obstetric complications (OCs) at birth and the genetic aetiology of schizo- phrenia remains unclear, as some authors suggest that it is an independent risk factor while others support either interactionism or an epiphenomenon perspective. Objective: To examine the association of family history of schizophrenia (FHS) with history of OCs, with a view to assessing whether this relationship moderates clinical phenotypes such as symptom dimensions and age at onset of illness. Methods: This study examined OCs among schizophrenia probands using the Obstetric Complications Scale. An inquiry into family history was performed using the Family history method. Psychopathological symptom dimensions were assessed using standard scales. Data were analyzed to examine the interaction of FHS and history of OCs with age at onset and symptom dimensions, using ANCOVA. Results: FHS was significantly associated with the disorganized symptoms dimension (p=0.03). History of OCs was significant- ly associated with earlier age at onset (p=0.007). However, in ANCOVA, the effect of the interaction between FHS and history of OCs was not significant for age at onset and symptom dimensions (P = 0.059). Conclusion: FHS was significantly associated with disorganization syndrome, and OCs was significantly associated with age at onset. Keywords: Family history; schizophrenia; obstetric complications; symptom dimensions; age at onset.

Association of family history and location of BRCA1 and BRCA2 mutations in triple-negative breast cancer patients.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e12588-e12588
Author(s):  
Yen Yen Tan ◽  
Daniela Muhr ◽  
Christine Rappaport-Fuerhauser ◽  
Daphne Gschwantler-Kaulich ◽  
Christoph Grimm ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Brca Mutation ◽  
Brca1 Mutation ◽  
Age At Onset ◽  
Family History Of Cancer ◽  
The Family ◽  
Brca1 Carriers ◽  
History Of ◽  
History Of Cancer

e12588 Background: We assessed the prevalence of family history and its association with germline BRCA1/2mutation status/location and age at onset in triple-negative breast cancer (TNBC) patients. Methods: 266 patients with TNBC < 60 years unselected for family history of cancer were enrolled and germline DNA was sequenced to identify mutations. Family pedigrees were prospectively collected from these patients. Logistic regression was used to investigate family history and its association with mutation type/location and age at onset. ROC curves were constructed to determine good predictors of BRCAmutations. Results: BRCA mutations were identified in 18.0% of all patients (15.0% BRCA1, 3.0% BRCA2). BRCA1 carriers have a significantly earlier age at onset than non-mutation carriers (40 vs 49 years; p < .001). While 39/124 (31.4%) patients with family history of cancer carried a BRCA1/2 mutation, 9/142 (6.3%) BRCA carriers had no family history of cancer. BRCA1 carriers with ≥1BC in the family are commonly identified in the breast cancer cluster regions (53.1%). BRCA2 carriers more commonly cluster within the ovarian cancer regions. Of note, this difference was not statistically significant. Women with mutations in BRCA1 OCCR are diagnosed at a younger age. TNBC diagnosed ≤45 years with ≥1BC and ≥1OC in the family are good predictors of BRCA1 mutation (AUC 0.867). Conclusions: Young women with TNBC and a family history of BC and OC are likely to have a BRCA mutation. Specific BRCA mutation locations may add to the identification of a subgroup of TNBC patients with a relatively higher risk of subsequent ovarian cancer. Identification of high-risk TNBC patients with BRCA1 mutation will enable clinicians to optimize cancer management for this phenotype, but will require further validation in larger studies.

scholarly journals Younger age of patients with myocardial infarction correlates with a higher number of relatives with a history of premature atherosclerosis

2020 ◽  
Author(s):  
Michał Ambroziak ◽  
Katarzyna Niewczas-Wieprzowska ◽  
Agnieszka Maicka ◽  
Andrzej Budaj
Keyword(s):  
Myocardial Infarction ◽  
Family History ◽  
Young People ◽  
Ischaemic Stroke ◽  
Premature Coronary Artery Disease ◽  
Premature Atherosclerosis ◽  
Younger Age ◽  
The Family ◽  
History Of ◽  
Second Degree

Abstract Background: Premature coronary artery disease is one of the most pressing global issues in modern cardiology. The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients aged <50 years with myocardial infarction (MI) compared to that in patients aged ≥50 years with MI and to that in young people without MI (no-MI<50).Methods: The studied group (MI<50) consisted of 240 patients aged 26-49 years with MI. The control groups consisted of 240 patients (MI≥50) with MI aged 50-92 years and 240 healthy people aged 30-49 years without a history of MI (no-MI<50).Results: There were statistically significant differences between the MI<50 and MI≥50 and no-MI<50 groups regarding the family history of premature MI/ischaemic stroke and the percentage of patients with ≥2 relatives affected (10.8%, 2.9%, and 3.7%, respectively; p<0.0001). There was a statistically significant difference in the patient age at the first MI occurrence among patients without a family history of premature CVD, those with 1 affected relative, and those with ≥2 affected first-degree relatives (56.6, 48.6 and 41.8 years, respectively) as well as those with affected first- and second-degree relatives (56.5, 50.7 and 47.0 years, respectively). Conclusions: A younger age of patients with myocardial infarction is inversely associated with a higher number of relatives with a history of premature MI/ischaemic stroke. Thus, the family history of premature atherosclerosis involving not only first- but also second-degree relatives seems to be a valuable factor in CVD risk evaluation in young people.

scholarly journals Individual and familial characteristics of patients with podoconiosis attending a clinic in Musanze District, Rwanda: A retrospective study

2020 ◽  
Vol 114 (12) ◽  
pp. 947-953
Author(s):  
Jean Paul Bikorimana ◽  
Ursin Bayisenge ◽  
Tonya Huston ◽  
Eugene Ruberanziza ◽  
Jean Bosco Mbonigaba ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Family History ◽  
Age Of Onset ◽  
Age At Onset ◽  
Disease Onset ◽  
Patient Characteristics ◽  
Health Concern ◽  
Red Clay ◽  
Younger Age ◽  
History Of

Abstract Background Podoconiosis is a progressive swelling of the legs affecting genetically susceptible people who live in areas with irritant red clay soils and walk barefoot. The disease is a public health concern in many countries, including Rwanda. Methods This retrospective study described individual and familial characteristics of patients with podoconiosis attending the Heart and Sole Africa (HASA) clinics in Rwanda. Data on patient characteristics and family history were retrieved from electronic medical records (January 2013 – August 2019). A multiple regression analysis was used to explore factors influencing age of onset of podoconiosis. Results Among 467 patients with podoconiosis, the mean (standard deviation) age of onset was 34.4 (19.6) years, 139 (29.8%) patients developed podoconiosis at &lt;20 years of age, 417 (89%) came from Musanze or neighboring Burera Districts, and 238 (51.0%) had a family history of podoconiosis. Increasing patient age was associated with older age at onset of disease (p&lt;0.001), while an increased number of relatives with podoconiosis (p&lt;0.002) was significantly associated with earlier disease onset. Conclusion Most patients with podoconiosis were women, and more than half had a family history of podoconiosis. An increased number of relatives with podoconiosis was associated with a significantly younger age at disease onset.

scholarly journals Benign paroxysmal torticollis in infancy – diagnostic error possibility

2017 ◽  
Vol 74 (5) ◽  
pp. 463-466
Author(s):  
Dragan Zlatanovic ◽  
Lidija Dimitrijevic ◽  
Anita Stankovic ◽  
Biljana Balov
Keyword(s):  
Family History ◽  
Migraine With Aura ◽  
Motor Development ◽  
Age Of Onset ◽  
Age At Onset ◽  
Family Members ◽  
Head Tilt ◽  
Diagnostic Error ◽  
Related Disorder ◽  
History Of

Background/Aim. Benign paroxysmal torticollis (BPT) is a rare paroxysmal dyskinesia characterized by attacks of head tilt alone or tilt accompanied by vomiting and ataxia, which may last hours to days. It is claimed that BPT disappears completely in childhood, but that it can evolve into other conditions, such as benign paroxysmal vertigo, cyclical vomiting syndrome, abdominal migraine, hemiplegic migraine, motion sickness and/or migraine with aura. The aim of this manuscript was to renew focus on benign paroxysmal torticollis because the disorder is almost always under-recognized by pediatric practitioners, who often order extensive and unrewarding testing and physiotherapy treatment. Methods. Twelve BPT cases observed during a 5-year period (2009?2014) at the Clinical Centre Nis, Nis, Serbia were reviewed. Data were collected on the features of torticollis, the age of onset, the duration of episodes, associated symptoms, the frequency of episodes, the persistence of symptoms over time, the age when the disorder finally disappeared, sequelae appearing after the 5th birthday, and family history of BPT, migraine or kinetosis. All the children were followed for periods ranging from 48 to 72 months. Results. The series included 6 females and 6 males. The age at onset of BPT was less than 8 months in 84% of the cases. Episodes of torticollis occurred suddenly on waking in all the cases without any trigger factors. The duration of torticollis ranged from a few hours to a few weeks. In 58% of cases, the condition persisted for more than one week. The frequency of the episodes ranged from once every 3 days to once every 25 days. The episodes were more frequent and lasted longer in the early months and tended to cease as the child became older. The age when episodes ended ranged from 11 months to 62 months. In 11 (91.66%) cases, the disorder disappeared before the patient's 5th birthday. No patient had a family history of BPT. In 6 cases, family members had kinetosis. In 5 cases, family members were positive for both migraine and kinetosis. All the children had normal motor development and normal speech and language development. After the disappearance of BPT, two children developed other forms of periodic syndromes: one boy had migraine with aura, and one girl experienced cyclic vomiting. Conclusion. BPT is probably an age-sensitive and migraine-related disorder that is benign in nature. The disorder is often misinterpreted, and children may pointlessly undergo numerous tests. Therefore, it is very important to recognize and observe this condition in order to avoid extensive, unnecessary and unpleasant procedures on the child.

scholarly journals Younger age of patients with myocardial infarction is associated with a higher number of relatives with a history of premature atherosclerosis.

2020 ◽  
Author(s):  
Michał Ambroziak ◽  
Katarzyna Niewczas-Wieprzowska ◽  
Agnieszka Maicka ◽  
Andrzej Budaj
Keyword(s):  
Myocardial Infarction ◽  
Family History ◽  
Young People ◽  
Ischaemic Stroke ◽  
Premature Coronary Artery Disease ◽  
Premature Atherosclerosis ◽  
Younger Age ◽  
The Family ◽  
History Of ◽  
Second Degree

Abstract Background. Premature coronary artery disease is one of the most pressing global issues in modern cardiology. The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients aged <50 years with myocardial infarction (MI) compared to that in patients aged ≥50 years with MI and to that in young people without MI (no-MI<50). Methods. The studied group (MI<50) consisted of 240 patients aged 26-49 years with MI. The control groups consisted of 240 patients (MI≥50) with MI aged 50-92 years and 240 healthy people aged 30-49 years without a history of MI (no-MI<50). Results. There were statistically significant differences between the MI<50 and MI≥50 and no-MI<50 groups regarding the family history of premature MI/ischaemic stroke and the percentage of patients with ≥2 relatives affected (10.8%, 2.9%, and 3.7%, respectively; p<0.0001). There was a statistically significant difference in the patient age at the first MI occurrence among patients without a family history of premature CVD, those with 1 affected relative, and those with ≥2 affected first-degree relatives (56.6, 48.6 and 41.8 years, respectively) as well as those with affected first- and second-degree relatives (56.5, 50.7 and 47.0 years, respectively). Conclusions. A younger age of patients with myocardial infarction is associated with a higher number of relatives with a history of premature MI/ischaemic stroke. Thus, the family history of premature atherosclerosis involving not only first- but also second-degree relatives seems to be a valuable factor in CVD risk evaluation in young people.

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 Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 631
Author(s):  
Karin Alvarez ◽  
Alessandra Cassana ◽  
Marjorie De La Fuente ◽  
Tamara Canales ◽  
Mario Abedrapo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Age Of Onset ◽  
Late Onset ◽  
Molecular Characteristics ◽  
Family History Of Cancer ◽  
Molecular Features ◽  
Age Of Diagnosis ◽  
History Of ◽  
History Of Cancer

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

scholarly journals Endocrinological and metabolic characteristics in patients who are non-obese and have polycystic ovary syndrome and different types of a family history of type 2 diabetes mellitus

2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110166
Author(s):  
Yuan Wang ◽  
Hua Gao ◽  
Wen Di ◽  
Zhuowei Gu
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Family History ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Ovary Syndrome ◽  
History Of ◽  
Second Degree

Objective We aimed to investigate whether patients with polycystic ovary syndrome (PCOS) and a family history (FH) of type 2 diabetes mellitus (T2DM) are at increased risk of endocrinological and metabolic abnormalities, and whether this risk differs between first-degree and second-degree relatives, and between maternal and paternal transmission. Methods A total of 680 patients with PCOS were enrolled in this retrospective, single-center study. Endocrine and glycolipid metabolism parameters were compared. Results The free androgen index (FAI), and levels of fasting blood glucose (FBG), fasting insulin (FINS), homeostatic model assessment-insulin resistance (HOMA-IR), total cholesterol (TC), and low-density lipoprotein cholesterol were significantly higher, whereas sex hormone binding globulin (SHBG) levels were significantly lower in patients with PCOS and a FH of T2DM. In patients with PCOS with a FH of T2DM in first-degree relatives, age and levels of FBG, FINS, and HOMA-IR were significantly higher than those who had a FH of T2DM in second-degree relatives. A maternal history of T2DM was associated with a higher body mass index, FAI, and TG levels, and lower SHBG levels. Conclusions Patients with PCOS and a FH of T2DM have more severe hyperandrogenism and metabolic disorders, especially in those with maternal transmission.

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