We sought to compare four different definitions of control groups in studies of the coaggregation between two disorders (A and B) on: 1) their ability to detect valid familial coaggregation; 2) their liability to artifactual evidence for familial coaggregation; and 3) their robustness to the overselection of comorbid cases. Using a quantitative genetic model of transmission, we simulated siblin...

A review of 580 hospital case notes of patients with motor neuron disease (MND) revealed 20 families in which more than one case had been reported. For 27 of the cases in these families full medical records were available, and a history of a further 37 affected family members were obtained. The cases in these 20 families are termed familial and the remainder sporadic. Parent to child transmissi...

Introduction: The GPR55 receptor has been identified as an atypical cannabinoid receptor and is implicated in various physiological processes. However, its functional role in the central nervous system is not currently understood. The presence of GPR55 receptor in neural regions such as the ventral hippocampus (vHipp), which is critical for cognition, recognition memory, and affective processin...

Dominant mutations of the SOD1 gene encoding Cu,Zn superoxide dismutase have been found in members of certain families with familial amyotrophic lateral sclerosis (ALS). To better understand the contribution of SOD1 mutations in the pathogenesis of familial ALS, we developed transgenic mice expressing one of the mutations found in familial ALS. These animals display clinical and pathological fe...

BACKGROUND AND PURPOSE Genetic factors are important determinants of intracranial aneurysm (IA). Recently, a multinational, genome-wide association study identified 3 loci associated with IA, located on 2q (rs700651), 8q (rs10958409), and 9p (rs1333040 and rs10757278). The aim of this study was to evaluate these associations. METHODS Familial and sporadic cases were investigated. Familial cas...

Background: Early detection of leprosy is important for elimination, but most cases are diagnosed only when lesions occur and nerves and skin are damaged. The determination of the risk of contacts to develop leprosy is still unpredictable, and elimination is not possible as long as contacts can still develop the disease. Methods: A modified PGL-I ELISA using tris-HCl as buffer and D-BSA as anti...

Reciprocal translocations involving duplications of different regions of chromosomes of group C have been reported in patients with multiple congenital malformations. Some of these cases died at 2 or 3 months of age (de Grouchy et al., 1967a, b; Gray et al., 1966). Others were discovered at ages ranging from 12 months to 12 years (Edwards et al., 1962; Rohde and Catz, 1964; de Grouchy and Canet...

The three English families in this report have a total of 21 members (16 females and five males) suffering from chronic hidradenitis suppurativa. In family A the condition is associated with acne conglobata and there is vertical transmission of the disorder through three generations. In the others there is no associated cystic acne, but all those affected had a history of acne vulgaris with com...

BACKGROUND A familial occurrence of intracranial aneurysms is defined by the presence of such aneurysms in two or more first to third-degree family members. Families with two affected members may represent accidental aggregation. Other families show a frequency compatible with an autosomal dominant mode of inheritance. A genetic basis is also suggested by the younger average age of familial cas...

In this paper, we compare the performance of SBOD and MBOD architectures for storage systems using a command profile based on the Storage Performance Council (SPC-1) Benchmark. The performance comparisons include changes in the strip size, in the number of disks and in the intra-enclosure transmission rate (2Gbps and 4Gbps). We show that performance is maximised with 16kbyte strips and that SBO...