No correspondence between resistance mutations in the HCV-NS3 protease at baseline and early telaprevir-based triple therapy
This study aimed to examine HCV-NS3 protease variants at baseline and at 4weeks under triple therapy. To this end, we analyzed the presence of variants in HCV-NS3 protease region from peripheral blood samples of 16 patients infected with HCV-1 at baseline and at 4weeks of combined therapy with telaprevir, pegylated interferon, and ribavirin, using next-generation sequencing. Several variants with synonymous and non-synonymous amino acid substitutions were detected at both time points. Variants detected at low frequency corresponded to 74% (HCV-1a) and 35% (HCV-1b) of non-synonymous substitutions. We found nine PI-resistanc...
Source: BBA Clinical - January 30, 2015 Category: Biochemistry Source Type: research

Pilot Feasibility and Safety Study Examining the Effect of Medium Chain Triglyceride Supplementation in Subjects with Mild Cognitive Impairment: A Randomized Controlled Trial
Conclusions Consumption of 56g/day of MCTs for 24weeks increases serum ketone concentrations and appears to be a candidate for larger randomized control trials in the future that quantify the modulation of cognitive function through supplementation with ketone precursors, in patients with MCI. (Source: BBA Clinical)
Source: BBA Clinical - January 17, 2015 Category: Biochemistry Source Type: research

Secretion of salivary statherin is compromised in uncontrolled diabetic patients
Conclusions and General Significance The results show that synthesis and secretion of statherin is reduced in diabetics and this reduction is salivary gland specific. As compromised salivary statherin secretion leads to increased oral health risk, this study indicates that routine oral health assessment of these patients is warranted. (Source: BBA Clinical)
Source: BBA Clinical - January 15, 2015 Category: Biochemistry Source Type: research

Increased cerebrospinal fluid osteopontin levels and its involvement in macrophage infiltration in neuromyelitis optica
Publication date: Available online 15 January 2015 Source:BBA Clinical Author(s): Yoshinobu Kariya , Yukiko Kariya , Toshie Saito , Shuhei Nishiyama , Takashi Honda , Keiko Tanaka , Mari Yoshida , Kazuo Fujihara , Yasuhiro Hashimoto Neuromyelitis optica (NMO) is an inflammatory disease of the central nervous system that predominantly affects the optic nerves and spinal cord. Although NMO has long been considered a subtype of multiple sclerosis (MS), the effects of interferon-β treatment are different between NMO and MS. Recent findings of NMO-IgG suggest that NMO could be a distinct disease rather than a subt...
Source: BBA Clinical - January 15, 2015 Category: Biochemistry Source Type: research

Methylation diet and methyl group genetics in risk for adenomatous polyp occurrence
Conclusion A methylation diet influences methyl group synthesis in the regulation of blood homocysteine level, and is modulated by genetic interactions. Methylation-related nutrients also interact with key genes to modify risk of AP, a precursor of colorectal cancer. Independent of diet, two methylation-related genes (A2756G-MS and A66G-MSR) were directly associated with AP occurrence. (Source: BBA Clinical)
Source: BBA Clinical - January 5, 2015 Category: Biochemistry Source Type: research

Thyroid function parameters in normal pregnancies in an iodine sufficient population
Conclusion In an iodine sufficient population, thyroid function parameters in normal pregnancies do not differ from those in non-pregnant women. Our previously defined reference range for TSH of 0.3 to 3.5 mIU/L is equally valid for normal pregnancies. General significance The question of cognition and IQ development of children has been proposed to be associated with thyroid function. The addition of data regarding normal thyroid function during pregnancy will contribute to this research. (Source: BBA Clinical)
Source: BBA Clinical - January 3, 2015 Category: Biochemistry Source Type: research

Genetics of ischaemic stroke in young adults
Publication date: Available online 29 December 2014 Source:BBA Clinical Author(s): Eva Terni , Nicola Giannini , Marco Brondi , Vincenzo Montano , Ubaldo Bonuccelli , Michelangelo Mancuso Background stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolut...
Source: BBA Clinical - December 31, 2014 Category: Biochemistry Source Type: research

Proof of Concept of the WOMED model of benign thyroid disease: Restitution of thyroid morphology after correction of physical and psychological stressors and magnesium supplementation
Conclusions In spite of the limitation due to the small number of cases, our observational study has delivered Proof of Concept for our examination and treatment model for benign thyroid disease. General significance Our results challenge validity of the prevailing dogma of a destructive un-stoppable “autoimmune” destructive process of the gland. At the same times it shows new therapeutic options for patients with thyroid disease. (Source: BBA Clinical)
Source: BBA Clinical - December 31, 2014 Category: Biochemistry Source Type: research

Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency
Conclusions Our results indicated that (i) mitochondrial biogenesis (citrate synthase activity) and/or mtDNA replication (mtDNA copy number) were affected at ≤60% NNT activity because these parameters were affected in individuals carrying either one or both mutated alleles; and (ii) other outcomes (mtDNA deletions, protein tyrosine nitration, OXPHOS capacity) were affected at ≤30% NNT activity as also observed in murine cerebellar mitochondria from C57BL/6J (NNT -/-) vs. C57BL/6JN (NNT +/+) substrains. General significance By studying a family affected with a novel point mutation in the NNT gene, a gene-dose response...
Source: BBA Clinical - December 14, 2014 Category: Biochemistry Source Type: research

A novel approach to study oxidative stress in neonatal respiratory distress syndrome
Conclusion The study provides convincing evidence of oxidative damage and diminished antioxidant defenses in newborns with RDS. Neonatal RDS is characterized by damage of lipid, protein and DNA which indicates the augmentation of oxidative stress. General significance Identification of potential biomarker of oxidative stress consists of promising strategy to study the pathophysiology of neonatal RDS. (Source: BBA Clinical)
Source: BBA Clinical - December 9, 2014 Category: Biochemistry Source Type: research

Genetic variants in Nogo receptor signaling pathways may be associated with early life adversity in schizophrenia susceptibility
Conclusions Despite the lack of positive findings in our population after correction for multiple testing, previous gene expression and association studies in schizophrenia suggest the implication of NgR signaling pathway genes in the etiology of schizophrenia remains topical and timely. General Significance Further investigations will be necessary to fully assess the role of these genes in the pathophysiology of schizophrenia. However these genes may prove useful in further understanding the mechanism by which negative experiences early in life can affect myelin-related processes in the context of schizophrenia. (Source: BBA Clinical)
Source: BBA Clinical - December 9, 2014 Category: Biochemistry Source Type: research

Skeletal muscle microvascular function in girls with Turner Syndrome
Conclusions Our results demonstrate that compared to HC, peripheral skeletal muscle microvascular function following exercise in girls with TS is not impaired. General Significance This study supports the idea that the aerobic energy pathway is not impaired in children with TS in response to submaximal exercise. Other mechanisms are likely responsible for exercise intolerance in TS; this needs to be further investigated. (Source: BBA Clinical)
Source: BBA Clinical - December 9, 2014 Category: Biochemistry Source Type: research

MicroRNA-222 regulates MMP-13 via targeting HDAC-4 during osteoarthritis pathogenesis
Conclusion Taken together, our data suggest that miR-222 may be involved in cartilage destruction by targeting HDAC-4 and regulating MMP-13 level. (Source: BBA Clinical)
Source: BBA Clinical - December 9, 2014 Category: Biochemistry Source Type: research

The predictive role of circulating microparticles in patients with chronic heart failure
Conclusion : Apoptotic phenotype of circulating microparticles may relate three-year combined clinical outcomes in CHF patients. (Source: BBA Clinical)
Source: BBA Clinical - December 6, 2014 Category: Biochemistry Source Type: research

Regular consumption of black tea increases circulating kynurenine concentrations: A randomized controlled trial
Conclusions Increased circulation of kynurenine and KYN/TRP following regular black tea consumption may indicate enhanced tryptophan breakdown, possibly due to increased activity of immune activation-induced tryptophan degrading enzyme indoleamine 2,3-dioxygenase. General significance The influence of black tea consumption on biomarkers of immune system activation could relate to its general health benefits. Data suggests that net effect strongly depend on the individual immune state, being stimulatory in healthy individuals while acting more immune dampening in situations with an inflammatory background. (Source: BBA Clinical)
Source: BBA Clinical - December 5, 2014 Category: Biochemistry Source Type: research