Osteoporosis in adult Sri Lankan inflammatory bowel disease patients

AIM： To determine if inflammatory bowel disease （IBD） is a risk factor for osteoporosis in adult Sri Lankans. METHODS： We identified eligible subjects from among consecutive patients diagnosed with IBD who attended our outpatient clinic. We included only patients aged between 20 and 70 years. Patients who were pregnant, had significant comorbidity, or were on calcium supplements or treatment for osteoporosis within the past 6 mo, were excluded. Healthy, ageand sex-matched controls were also recruited, in a control to patient ratio of 3：1. Both groups were screened for osteoporosis using peripheral dual energy X-ray absorptiometry scanning. RESULTS： The study population consisted of 111 IBD patients （male：female = 43：68; mean age 42.5 years） and 333 controls （male：female = 129：204; mean age 43.8 years）. The occurrence of osteoporosis among IBD patients （13.5%） was significantly higher than among controls （4.5%） （P = 0.001）. The frequency of osteoporosis was not significantly different between ulcerative colitis （14.45%） and Crohn＇s disease （10.7%）. However, on multivariate analysis, only age （P = 0.001）, menopause （P = 0.024） and use of systemic steroids （P 〈 0.001） were found to be associated independently with the occurrence of osteoporosis, while IBD, severity of disease, number of relapses, duration of illness or treatment other than systemic steroids were not. CONCLUSION： IBD does not appear to be an independent risk factor for the occurrence of osteoporosis in this population. However, the use of systemic steroids was a risk factor.     

Combining anatomical manifold information via diffeomorphic metric mappings for studying cortical thinning of the cingulate gyrus in schizophrenia

Spatial normalization is a crucial step in assessing patterns of neuroanatomical structure and function associated with health and disease. Errors that occur during spatial normalization can influence hypothesis testing due to the dimensionalities of mapping algorithms and anatomical manifolds (landmarks, curves, surfaces, volumes) used to drive the mapping algorithms. The primary aim of this paper is to improve statistical inference using multiple anatomical manifolds and large deformation diffeomorphic metric mapping (LDDMM) algorithms. We propose that combining information generated by the various manifolds and algorithms improves the reliability of hypothesis testing. We used this unified approach to assess variation in the thickness of the cingulate gyrus in subjects with schizophrenia and healthy comparison subjects. Three different LDDMM algorithms for mapping landmarks, curves and triangulated meshes were used to transform thickness maps of the cingulate surfaces into an atlas coordinate system. We then tested for group differences by combining the information from the three types of anatomical manifolds and LDDMM mapping algorithms. The unified approach provided reliable statistical results and eliminated ambiguous results due to surface mismatches. Subjects with schizophrenia had non-uniform cortical thinning over the left and right cingulate gyri, especially in the anterior portion, as compared to healthy comparison subjects.     

Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region,Sri Lanka

Objectives

The familial clustering observed in chronic kidney disease of uncertain etiology (CKDu) characterized by tubulointerstitial damages in the North Central Region of Sri Lanka strongly suggests the involvement of genetic factors in its pathogenesis. The objective of the present study is to use whole-exome sequencing to identify the genetic variants associated with CKDu.

Methods

Whole-exome sequencing of eight CKDu cases and eight controls was performed, followed by direct sequencing of candidate loci in 301 CKDu cases and 276 controls.

Results

Association study revealed rs34970857 (c.658G > A/p.V220M) located in the KCNA10 gene encoding a voltage-gated K channel as the most promising SNP with the highest odds ratio of 1.74. Four rare variants were identified in gene encoding Laminin beta2 (LAMB2) which is known to cause congenital nephrotic syndrome. Three out of four variants in LAMB2 were novel variants found exclusively in cases.

Conclusion

Genetic investigations provide strong evidence on the presence of genetic susceptibility for CKDu. Possibility of presence of several rare variants associated with CKDu in this population is also suggested.     

Transcatheter closure of ruptured sinus of Valsalva aneurysm using the Amplatzer duct occluder in a critically ill post-CABG patient

Ruptured sinus of Valsalva aneurysm is a rare but well recognized clinical entity. These patients develop congestive heart failure due to biventricular increases in volume as a result of sudden aortocardiac shunting. Traditionally, surgical repair has been the mainstay of therapy. We report a case of a ruptured sinus of Valsalva aneurysm that was successfully closed percutaneously using the Amplatzer duct occluder in a critically ill patient operated on previously for coronary artery disease and presenting with acute congestive heart failure.     

Abnormalities of cingulate gyrus neuroanatomy in schizophrenia

OBJECTIVE AND METHODS: Abnormalities of the neuroanatomy of the gray matter of the cingulate gyrus, especially its anterior segment, have been suggested to be an important characteristic of schizophrenia. In this study, T1-weighted magnetic resonance scans were collected in 53 individuals with schizophrenia and 68 comparison subjects matched for age, gender, race and parental socioeconomic status. We applied Labeled Cortical Mantle Distance Mapping to assess the volume, surface area and thickness of the cortical mantle within the anterior (AC) and posterior (PC) segments of the cingulate gyrus, excluding the paracingulate gyrus, and related these anatomical measures to measures of psychopathology and illness duration. RESULTS: After covarying for total cerebral volume, individuals with schizophrenia showed smaller AC gray matter volume (p=0.024), thickness (trend, p=0.081), but not surface area (p=0.16), than comparison subjects. Similar group differences were found for PC gray matter volume (p=0.0005) and thickness (trend, p=0.055), but not surface area (p=0.15). Across both groups, there was a significant L>R asymmetry in thickness of the AC, and a significant L>R asymmetry in the surface area of the PC. However, there were no significant group-by-hemisphere interactions. In the individuals with schizophrenia, thinning of the AC, but not the PC, was correlated with a longer duration of illness and a greater severity of psychotic symptoms. CONCLUSIONS: Individuals with schizophrenia showed smaller gray matter volumes across the entire cingulate gyrus, mostly due to a reduction in cortical mantle thickness. However, structural measures of the AC were more closely related to clinical features of the illness.     

A cost-effective straightforward protocol for shotgun Illumina libraries designed to assemble complete mitogenomes from non-model species

Conservation Genetics Resources - The mitogenome is an inescapable tool in conservation biology studies. Yet, its routine sequencing may remain tricky despite next-generation sequencing...