Three families with ‘de novo’ m.3243A & gt;G mutation
In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m.3243A>G mutation has arisen de novo in each of these families. The symptomatic carriers presented with a variety of symptoms frequently observed in patients harbouring the m.3243A>G mutation. A more severe phenotype is seen in the de novo families compared to recent cohort studies, which might be due to reporting bias. The observation that de novo m.3243A>G mutations exi...
Source: BBA Clinical - July 19, 2016 Category: Biochemistry Source Type: research
Induction of differentiation in psoriatic keratinocytes by propylthiouracil and fructose
Publication date: December 2016 Source:BBA Clinical, Volume 6 Author(s): Santhosh Arul, Haripriya Dayalan, Muhilan Jegadeesan, Prabhavathy Damodharan Psoriasis is characterized by uncontrolled proliferation and poor differentiation. Sirtuin1 (SIRT1) a class III deacetylase, crucial for differentiation in normal keratinocytes, is reduced in psoriasis. Down regulated SIRT1 levels may contribute to poor differentiation in psoriasis. In addition, the levels of early differentiation factors Keratin1 (K1) and Keratin10 (K10) are depleted in psoriasis. We attempted to study a possible effect of fructose, a SIRT1 upreg...
Source: BBA Clinical - July 19, 2016 Category: Biochemistry Source Type: research
Lipid profile of platelets and platelet-derived microparticles in ovarian cancer
Conclusion Our results support a procoagulant lipid profile of platelets in ovarian cancer patients that can play a role in the increased risk of venous thrombosis in these patients. General significance As far as we are aware, our study is the first study on platelet lipidomics in ovarian cancer. The importance of our findings for the future studies are: 1) a similar change in lipid profile of platelets and PMP may be responsible for hypercoagulability in other cancers, and 2) plasma level of high-risk lipids for venous thrombosis may be useful biomarkers. (Source: BBA Clinical)
Source: BBA Clinical - July 19, 2016 Category: Biochemistry Source Type: research
Heart failure in chemotherapy-related cardiomyopathy: Can exercise make a difference?
Publication date: Available online 15 June 2016 Source:BBA Clinical Author(s): Nandini Nair, Enrique Gongora Medical therapies in oncology have resulted in better survival resulting in a large population who are at risk of early and late cardiac complications of chemotherapy. Cardiotoxicity related to chemotherapy can manifest decades after treatment with a threefold higher mortality rate as compared to idiopathic dilated cardiomyopathy. The leading cause of death in cancer survivors seems to be cardiac. Early detection and intervention could prevent progression of heart failure to end stage disease requiring advan...
Source: BBA Clinical - June 15, 2016 Category: Biochemistry Source Type: research
Analysis of Glutathione levels in the Brain tissue samples from HIV-1-Positive Individuals and subject with Alzheimer's disease and its implication in the pathophysiology of the disease process
Publication date: Available online 29 May 2016 Source:BBA Clinical Author(s): Tommy Saing, Minette Lagman, Jeffery Castrillon, Eutiquio Gutierrez, Frederick T. Guilford, Vishwanath Venketaraman HIV-1 positive individuals are at high risk for susceptibility to both pulmonary tuberculosis (TB) and extra-pulmonary TB, including TB meningitis (TBM) which is an extreme form of TB. The goals of this study are to determine the mechanisms responsible for compromised levels of glutathione (GSH) in the brain tissue samples derived from HIV-1-infected individuals and individuals with Alzheimer's disease (AD), investig...
Source: BBA Clinical - May 29, 2016 Category: Biochemistry Source Type: research
Epigenetics in heart failure phenotypes
Publication date: Available online 30 May 2016 Source:BBA Clinical Author(s): Alexander Berezin Chronic heart failure (HF) is a leading clinical and public problem affected higher risk of morbidity and mortality in different population. HF appears to be in both phenotypic forms: HF with reduced left ventricular ejection fraction (HFrEF) and HF with preserved left ventricular ejection fraction (HFpEF). Although both HF phenotypes are distinguished in clinical features, co-morbidity status, prediction score, and treatment, the clinical outcomes in patients with HFrEF and HFpEF are similar. In this context investigation...
Source: BBA Clinical - May 29, 2016 Category: Biochemistry Source Type: research
Autoimmune manifestations in patients with multiple myeloma and monoclonal gammopathy of undetermined significance
Conclusions Future research is required to explore further the link between MGUS/MM and autoimmune disorders. Inflammation in the setting of autoimmunity may serve as a trigger for MGUS and MM. In addition, a common genetic susceptibility for developing both an autoimmune disease and MM/MGUS might also exist. Autoimmune hematologic and rheumatologic diseases may pose important clinical problems for the MM patients. Therefore, a catalogue of these problems is important so that physicians are able to consider, identify and address them promptly. (Source: BBA Clinical)
Source: BBA Clinical - May 25, 2016 Category: Biochemistry Source Type: research
Apoptotic And Stress Signaling Markers Are Augmented In Preeclamptic Placenta And Umbilical Cord
Conclusions Apoptotic and stress signaling are augmented in PreE placenta and cord tissue that alter the intrauterine environment and activates the detrimental signaling that is transported to fetus. (Source: BBA Clinical)
Source: BBA Clinical - May 25, 2016 Category: Biochemistry Source Type: research
Glycosaminoglycan measured from synovial fluid serves as a useful indicator for progression of Osteoarthritis and complements Kellgren-Lawrence Score
Conclusions Accurate diagnosis of cartilage-loss remains a challenge with OA due to limitations of KL-system; thus no target intervention is available to arrest active cartilage-loss. We propose, GAG-estimation in OA patients, characterizes accurate biochemical depiction of cartilagedegeneration. General Significance: Radiology often fails to reveal an accurate cartilage loss, associated with OA. GAG levels from the SFs of OA patients' serve as a useful marker, which parallels cartilage degeneration and strengthen radiographic grading system, ultimately Graphical abstract (Source: BBA Clinical)
Source: BBA Clinical - May 11, 2016 Category: Biochemistry Source Type: research
Biochemical biomarkers are not dependent on physical exercise in patients with spinal cord injury
Publication date: Available online 6 May 2016 Source:BBA Clinical Author(s): Eduardo José R. Garbelotia, Raquel Caroline A. Paivaa, Carolina Baraldi A. Restinia, Marina T. Duranda, Carlos Eduardo S. Mirandaa, Vinicius Eduardo Teixeiraa (Source: BBA Clinical)
Source: BBA Clinical - May 6, 2016 Category: Biochemistry Source Type: research
Signaling mechanisms implicated in cranial sutures pathophysiology: craniosynostosis
Publication date: Available online 29 April 2016 Source:BBA Clinical Author(s): Maria A. Katsianou, Christos Adamopoulos, Heleni Vastardis, Efthimia K. Basdra Normal extension and skull expansion is a synchronized process that prevails along the osteogenic intersections of the cranial sutures. Cranial sutures operate as bone growth sites allowing swift bone generation at the edges of the bone fronts while they remain patent. Premature fusion of one or more cranial sutures can trigger craniosynostosis, a birth defect characterized by dramatic manifestations in appearance and functional impairment. Up today, surg...
Source: BBA Clinical - April 29, 2016 Category: Biochemistry Source Type: research
Three families with ‘de novo’ m.3243A>G mutation
In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m.3243A>G mutation has arisen de novo in each of these families. The symptomatic carriers presented with a variety of symptoms frequently observed in patients harbouring the m.3243A>G mutation. A more severe phenotype is seen in the de novo families compared to recent cohort studies, which might be due to reporting bias. The observation that de novo m.3243A>G mutations exi...
Source: BBA Clinical - April 29, 2016 Category: Biochemistry Source Type: research
Relationship between level of HbA1C and breast cancer
Conclusion While there was a statistically significant association between HbA1C and obesity, there were no significant associations found with this analysis. However, there are clinically meaningful relationships based on observed trends. Future directions for research may involve exploring a larger sample of patients and the role of therapeutic regimens on blood sugar control and BMI of breast cancer patients and influence on cancer prognosis. (Source: BBA Clinical)
Source: BBA Clinical - April 22, 2016 Category: Biochemistry Source Type: research
Magnetic resonance spectroscopy — Revisiting the biochemical and molecular milieu of brain tumors
Publication date: June 2016 Source:BBA Clinical, Volume 5 Author(s): Ashish Verma, Ishan Kumar, Nimisha Verma, Priyanka Aggarwal, Ritu Ojha Background Magnetic resonance spectroscopy (MRS) is an established tool for in-vivo evaluation of the biochemical basis of human diseases. On one hand, such lucid depiction of ‘live biochemistry’ helps one to decipher the true nature of the pathology while on the other hand one can track the response to therapy at sub-cellular level. Brain tumors have been an area of continuous interrogation and instigation for mankind. Evaluation of these lesions by MRS plays a cruci...
Source: BBA Clinical - April 22, 2016 Category: Biochemistry Source Type: research
Generation of reactive oxygen species in the anterior eye segment. Synergistic Codrugs of N-acetylcarnosine lubricant eye drops and mitochondria-targeted antioxidant act as a powerful therapeutic platform for the treatment of cataracts and primary open-Angle glaucoma
Publication date: Available online 19 April 2016 Source:BBA Clinical Author(s): Mark A. Babizhayev Senile cataract is a clouding of the lens in the aging eye leading to a decrease in visison. Symptoms may include faded colors, blurry vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Cataracts are the cause of half of blindness and 33% of visula impairment worldwide. Cataracts result from the deposition of aggregated proteins in the eye lens and lens fiber cells plasma membrane damage which causes clouding of the lens...
Source: BBA Clinical - April 18, 2016 Category: Biochemistry Source Type: research
