Inheritance of nasal dermoid sinus cyst and evidence for association with third ventricle colloid cyst

Purpose  

The purpose of this paper is to study the possible inheritance of nasal dermoid sinus cyst in the Finnish population.     

Predicting the risk of extinction from shared ecological characteristics

Understanding the ultimate causes of population declines and extinction is vital in our quest to stop the currently rampant biodiversity loss. Comparison of ecological characteristics between threatened and nonthreatened species may reveal these ultimate causes. Here, we report an analysis of ecological characteristics of 23 threatened and 72 nonthreatened butterfly species. Our analysis reveals that threatened butterflies are characterized by narrow niche breadth, restricted resource distribution, poor dispersal ability, and short flight period. Based on the characteristics, we constructed an ecological extinction risk rank and predicted which of the currently nonthreatened species are at the highest risk of extinction. Our analysis reveals that two species currently classified as nonthreatened are, in fact, at high risk of extinction, and that the status of a further five species should be reconsidered.     

Influence of physical activity on vertebral strength during late adolescence

Background contextReduced vertebral strength is a clear risk factor for vertebral fractures. Men and women with vertebral fractures often have reduced vertebral size and bone mineral density (BMD). Vertebral strength is controlled by both genetic and developmental factors. Malnutrition and low levels of physical activity are commonly considered to result in reduced bone size during growth. Several studies have also demonstrated the general relationship between BMD and physical activity in the appendicular skeleton.PurposeIn this study, we wanted to clarify the role of physical activity on vertebral bodies. Vertebral dimensions appear to generally be less pliant than long bones when lifetime changes occur. We wanted to explore the association between physical activity during late adolescence and vertebral strength parameters such as cross-sectional size and BMD.Study designThe association between physical activity and vertebral strength was explored by measuring vertebral strength parameters and defining the level of physical activity during adolescence.Patient sampleThe study population consisted of 6,928 males and females who, at 15 to 16 and 19 years of age, responded to a mailed questionnaire inquiring about their physical activity. A total of 558 individuals at the mean age of 21 years underwent magnetic resonance imaging (MRI) scans.MethodsWe measured the dimensions of the fourth lumbar vertebra from the MRI scans of the Northern Finland Birth Cohort 1986 and performed T2* relaxation time mapping, reflective of BMD. Vertebral strength was based on these two parameters. We analyzed the association of physical activity on vertebral strength using the analysis of variance.Results and conclusionsWe observed no association between the level of physical activity during late adolescence and vertebral strength at 21 years.     

Phenotypic and population differences in the association between CILP and lumbar disc disease

Background

Lumbar disc disease (LDD) is one of the leading causes of disability in the working‐age population. A functional single‐nucleotide polymorphism (SNP), +1184T→C, in exon 8 of the cartilage intermediate layer protein gene (CILP) was recently identified as a risk factor for LDD in the Japanese population (odds ratio (OR) 1.61, 95% CI 1.31 to 1.98), with implications for impaired transforming growth factorβ1 signalling.

Aim

To validate this finding in two different ethnic cohorts with LDD.

Methods

This SNP and flanking SNPs were analysed in 243 Finnish patients with symptoms of LDD and 259 controls, and in 348 Chinese subjects with MRI‐defined LDD and 343 controls.

Results and conclusion

The results showed no evidence of association in the Finnish (OR = 1.35, 95% CI 0.97 to 1.87; p = 0.14) or the Chinese (OR = 1.05, 95% CI 0.77 to 1.43; p = 0.71) samples, suggesting that cartilage intermediate layer protein gene is not a major risk factor for symptoms of LDD in Caucasians or in the general population that included individuals with or without symptoms.Lumbar disc disease (LDD) is one of the leading causes of disability in the working‐age population. Radiological changes indicative of LDD are common, but only a proportion develops complications such as disc herniation and sciatica. Although the aetiology of LDD is not well understood, there is strong evidence for the involvement of both genetic and environmental factors.^1,2A recent study reported an association between LDD and a functional single‐nucleotide polymorphism (SNP) (rs2073711), +1184T→C, in exon 8 of the cartilage intermediate layer protein gene (CILP) in a Japanese group (odds ratio (OR) 1.61, 95% CI 1.31 to –1.98).³ The allelic change resulted in amino acid substitution Ile395Thr. CILP is expressed widely in intervertebral discs and its expression increases as disc degeneration progresses.³ CILP interacts directly with transforming growth factor (TGF)β1, inhibiting the TGFβ1‐mediated induction of extracellular matrix proteins such as aggrecan and collagen II.³ Functional studies showed that the C allele (coding for Thr395) increased binding and inhibition of TGFβ1, suggesting that regulation of TGFβ1 signalling by CILP plays a crucial role in the aetiology and pathogenesis of LDD.³Argument for a causal role would be strengthened if the same association could be replicated in a distinct population, and in clinical cases of LDD defined by MRI changes indicative of LDD in general. Therefore, we investigated the association between CILP polymorphisms and LDD in a Finnish sample with symptoms of LDD, and in a Chinese sample with only MRI‐defined LDD. These samples were informative in previous studies demonstrating association of LDD with the vitamin D receptor gene⁴ and the Gln326Trp (Trp2) allele of COL9A2⁵ in Chinese and the Arg103Trp (Trp3) allele of COL9A3 in Finns.⁶ Thus, the Chinese sample is comparable with the Finnish dataset, and a correlation can then be drawn with the Japanese dataset.