To investigate, at a population level, whether a family history of abdominal aortic aneurysm (AAA) is independently related to increased aortic diameter and prevalence of AAA in men, and to elucidate whether the mean aortic diameter and the prevalence of AAA are different between participants with male and female relatives with AAA.
18,614 male participants screened for AAA in the VIVA-trial 2008-2011 with information on both family history of AAA and maximal aortic diameter.
Standardized ultrasound scan measurement of maximum antero-posterior aortic diameter. Family history obtained by questionnaire. Multivariate regression analysis was used to test for confounders: age, sex, smoking, comorbidity and medication.
From the screened cohort, 569 participants had at least one first degree relative diagnosed with AAA, and 38 had AAA. Participants with a family history of AAA (+FH) had a significantly larger mean maximum aortic diameter (20.50 mm) compared with participants without family history of AAA (-FH) (19.07 mm, p
Few countries offer organized screening of siblings of patients with abdominal aortic aneurysms (AAAs), although a hereditary trait is well known to exist. Male relatives, but not female, are invited within the population-based screening programs for elderly men in Sweden. Evidence regarding the optimal age to screen siblings is scarce. The aim of this study was to describe the age at detection in siblings found with AAAs.
All patients treated for AAAs in two Swedish counties were screened for siblings. Consenting siblings aged 80 and younger were examined (N = 529) with ultrasound and were interviewed per protocol.
In the cohort of 529 siblings to AAA patients, 53 siblings were diagnosed with AAAs (sisters 16/276 [5.8%] and brothers 37/253 [14.6%]). The prevalence of AAAs in the siblings 65 years of age or younger was 16/207 (7.7%). One-third of the siblings found with AAAs were young (16/53 [30%]). Among the young siblings with AAAs, 8/16 (50%) had an aneurysm larger than 50 mm or were already surgically treated. The prevalence of AAAs in siblings older than 65 years of age was 37/322 (12%).
The AAA prevalence in this sibling cohort is strikingly high compared to the prevalence in the population (in Sweden, 1.4%-2.2% in 65-year-old men). The young ages among diagnosed siblings reinforce that male siblings of AAA patients should be screened before age 65 (before the population-based program) and that structured programs for female siblings are called for.
Family history of asthma and other allergic diseases have been linked to the risk of childhood asthma previously, but little is known about their effect on the age-of-onset and persistency of asthma until young adulthood.
We assessed the effect of the family history of asthma and allergic diseases on persistent vs. transient, and early- vs. late-onset persistent asthma in The Espoo Cohort Study 1991-2011, a population-based cohort study of 1623 subjects (follow-up rate 63.2%). The determinants were any family history (any parent or sibling); maternal; paternal; siblings only; parents only; and both siblings and parents. Analyses were conducted separately for asthma and allergic diseases while taking the other disease into account as a confounding factor. The outcomes were persistent, transient, early-onset persistent (
Cites: Am J Respir Crit Care Med. 1999 Nov;160(5 Pt 1):1617-2210556130
A new syndrome of congenital skeletal abnormalities has been found in the Alaskan Eskimo. The condition is characterized by multiple joint contractures predominantly affecting the knees and ankles, with atrophy or compensatory hypertrophy of associated muscle groups. Intellectual functioning is not impaired, and, aside from the skeletal system and possibly the skin, there are no other consistent physical anomalies. General laboratory studies disclosed no abnormality, extensive electromyographic investigation showed no basic defect of the motor unit, and results of muscle biopsies were normal. Treatment to date has been entirely orthopedic, with use of surgery, casting and bracing, and passive manipulation. This condition can be separated from the heterogeneous category of arthrogryposis multiplex congenita by its distinctive clinical features and by the familial pattern of distribution, which suggests an autosomal recessive mode of inheritance.
From: Fortuine, Robert et al. 1993. The Health of the Inuit of North America: A Bibliography from the Earliest Times through 1990. University of Alaska Anchorage. Citation number 2671.
Recent studies have identified the presence of familial clustering of ischemic sudden cardiac death (SCD) as a clinical expression of coronary artery disease. The purpose of this study was to determine whether nonischemic SCD has a similar familial background, which would be evidence of a genetic predisposition.
The retrospective case-control study included (1) consecutive victims of nonischemic SCD (n=223), (2) consecutive victims of ischemic SCD (n=596), whose deaths and diagnosis were verified at medicolegal autopsy, and (3) control subjects without heart disease (n=475). In each study group, the family history of SCD among the first-degree relatives was determined and verified from death certificates. The prevalence of SCD in =1 first-degree relative was significantly higher in victims of ischemic (34.2%) than nonischemic SCD (13.4%; P
Research on cranial suture biology suggests there is biological and taxonomic information to be garnered from the heritable pattern of suture synostosis. Suture synostosis along with brain growth patterns, diet, and biomechanical forces influence phenotypic variability in cranial vault morphology. This study was designed to determine the pattern of ectocranial suture synostosis in skeletal populations from the Aleutian Islands. We address the hypothesis that ectocranial suture synostosis pattern will differ according to cranial vault shape. Ales Hrdlicka identified two phenotypes in remains excavated from the Aleutian Island. The Paleo-Aleutians, exhibiting a dolichocranic phenotype with little prognathism linked to artifacts distinguished from later inhabitants, Aleutians, who exhibited a brachycranic phenotype with a greater amount of prognathism. A total of 212 crania representing Paleo-Aleuts and Aleutian as defined by Hrdlicka were investigated for suture synostosis pattern following standard methodologies. Comparisons were performed using Guttmann analyses. Results revealed similar suture fusion patterns for the Paleo-Aleut and Aleutian, a strong anterior to posterior pattern of suture fusion for the lateral-anterior suture sites, and a pattern of early termination at the sagittal suture sites for the vault. These patterns were found to differ from that reported in the literature. Because these two populations with distinct cranial shapes exhibit similar patterns of suture synostosis it appears pattern is independent of cranial shape in these populations of Homo sapiens. These findings suggest that suture fusion patterns may be population dependent and that a standardized methodology, using suture fusion to determine age-at-death, may not be applicable to all populations.
OBJECTIVE: To study concordance rates of cryptorchidism (undescended testis) in pairs of boys with varying family structure, to evaluate the risk contribution from the intrauterine environment and genetic factors. DESIGN: Population based study of 1,024,500 Danish boys born from January 1, 1973 to December 31, 2004. Classic twin method and computerized square dance design. SETTING: Hospitals and outpatient clinics. PATIENT(S): Six groups of boy pairs: boys with no relation, paternal half-brothers, maternal half-brothers, full brothers, dizygotic twin brothers, and monozygotic twin brothers. INTERVENTION(S): Observational study. MAIN OUTCOME MEASURE(S): Status on each individual regarding cryptorchidism and orchiopexy from the Danish National Patient Register. RESULT(S): Concordance rates of cryptorchidism in the groups were as follows: boys with no relation 3.2% (95% confidence interval 2.7%-3.6%), paternal half-brothers 3.4% (2.3%-4.7%), maternal half-brothers 6.0% (4.5%-7.7%), full brothers 8.8% (8.3%-9.8%), dizygotic twin brothers 24.1% (16.0%-33.6%), and monozygotic twin brothers 27.3% (15.5%-41.2%). CONCLUSION(S): The concordance rate was higher in maternal than in paternal half-brothers, and much higher but of equal magnitude in both twin groups. The findings strongly support that the intrauterine environment and maternal inheritance are contributing to the occurrence of cryptorchidism.
It is unknown whether elevated maternal low-density lipoprotein cholesterol (LDL-C) levels lead to dyslipidemia in the offspring. Because this could have important consequences for cardiovascular prevention in mother and child, we explored the relationship between maternal familial hypercholesterolemia (FH) and lipids in adult offspring.
In a large cohort of both Dutch and Canadian origin, we compared lipid profiles between patients, aged 18 to 85 years, who inherited FH maternally (n=1069) and those who inherited FH paternally (n=1270). This relationship was evaluated using multivariate regression analyses. Levels of total cholesterol (TC), LDL-C, and apolipoprotein B 100 (ApoB100) were significantly elevated in patients who inherited FH maternally compared with patients who inherited FH paternally (adjusted differences in TC: 0.156 mmol/L, P=0.037; LDL-C: 0.187 mmol/L, P=0.012; ApoB: 0.064 g/L, P=0.022).
Our data show that maternal hereditary hypercholesterolemia slightly increases TC, LDL-C, and ApoB levels in their offspring later in life. Although the molecular mechanisms underlying these observations still require elucidation, our data suggest that maternal hypercholesterolemia during pregnancy may program lipid metabolism to a certain extent in the fetus.