Pulmonary arterial embolization of an Amplatzer™ vascular plug after patent ductus arteriosus closure in a 12-year- old patient
Currently, the primary approach for treating patent ductus arterio sus (PDA) is an alternative non-surgical strategy. Various devices are used for transcatheter closure of PDA. However, the emboli zation of these percutaneous devices is a rare yet severe complica tion. In this case, a 12-year-old girl underwent a successful attempt to close her PDA using an Amplatzer device. At the next morning echocardiography control, the device was found to be dislodged and migrated to the right pulmonary artery
Association of hyperuricemia and nitric oxide level in patients with Diabetes and Hypertension
1.1. Background: Type 2 diabetes mellitus and hypertension are two important public health challenges, and both are linked to increased risk of cardiovascular events. Hyperuricemia has re cently emerged as an independent risk factor in the development of type 2 diabetes mellitus and hypertension through several pro posed mechanisms. These include endothelial dysfunction leading to vascular remodeling, inhibition of proliferation and migration of endothelial cells and NO secretion, formation of peroxynitrite through uric acid depended reactive oxygen species and NO and promoting L-arginine degradation. As a result of the effects of hy perglycemia and neurohormonal activation, UA levels are inde pendently associated with endothelial dysfunction in animals and humans, thereby promoting hypertension.[12] This study was un dertaken to find out the possible association of hyperuricemia and nitric oxide on patients with diabetes and hypertension. 1.2. Methods and Materials: The study was carried in a medical college of South India with a sample size of 186 patients which were divided into 4 groups – Group 1- healthy patients, Group 2 – patients with DM, Group 3- patients with DM and HTN, and Group 4 – patients with CAD with DM. Blood samples for serum uric acid , fasting blood sugar, nitric oxide and HbA1c and anthro pometric measurements ( height and weight for BMI) were taken. The data obtained was analyzed with IBM SPSS Statistics for Win dows, Version 20.0., IBM Corp., Chicago, IL and t-test was used to compare the results of various parameters among the studied groups. Linear regression analysis (Person correlation coefficient, r) was performed for determining the degree of association be tween different parameters. All values expressed as mean±SD, and P values of
Platelet Rich Therapy for the Treatment of Osteonecrosis of the Jaw: An Assessment of 14 cases and Review of Technique
Medication related osteonecrosis of the jaw (MRONJ) is a debili tating condition characterized by exposure of non-healing necrotic bone lasting eight weeks or longer in the mandible or maxilla after medication use. Most commonly, MRONJ is a concern for patients receiving bisphosphonate therapy, most commonly for patients undergoing cancer treatment. The use of bisphosphonates in the treatment of osteoporosis has also been implied in the genesis of MRONJ, although at a lower rate [1]
Microalbumin and Diabetes mellitus type 2(T2DM): A Mendelian Randomization Study
1.1. Background: The observational link between microalbumin and type 2 diabetes (T2DM) is well established. However, it is uncertain if the link is causative. 1.2. Methods: The current study performed Mendelian random ization (MR) on publicly accessible genome-wide association study (GWAS) summary data in order to investigate the causal linkages between microalbumin and T2DM. A single set of MR analyses was performed. As instrumental variables, a dataset of single nucleotide polymorphisms (SNPs) with significance value smaller than the genome-wide criteria (5*10-8) was employed. 1.3. Results: The results suggested that microalbumin had a causal influence on T2DM risk based on the 0.05 threshold. Microalbu min was shown to be positively linked with the risk of T2DM using the inverse variance weighted (IVW) technique (OR = 1.346, 95% CI, 1.062-1.706, P = 0.014). The weighted median MR estimations revealed that microalbumin was positively associated with the in cidence of T2DM (OR = 1.356, 95% CI, 1.038-1.771, P = 0.0254). 1.4. Conclusions: The data showed that microalbumin may in crease the incidence of T2DM dependent on the genome-wide statistical significance level. This study supports the notion that microalbumin has a negative causal influence on T2DM risk.
A new mutation in FGFR1 gene (p.M771I) with no pathogenic effect on hearing loss found by Whole Exome Sequencing in an Iranian family
1.1. Objectives: Hearing loss, the second most frequent sensori neural impairment, could be associated with missense mutations in several genes involved in the development of hearing parts. The re ceptor tyrosine kinase fibroblast growth factor receptor 1 (FGFR1) is known to be expressed in the inner ear and plays an important role in the formation of auditory-sensory epithelium. There have been some reports of FGFR1 gene mutations causing hearing loss. Using Whole Exome Sequencing (WES), we identified a novel mutation in the FGFR1 gene in a 30-year-old Iranian woman. 1.2. Material and Methods: Whole Exome Sequencing (WES) was performed on a 30-year-old woman, followed by sanger se quencing to check for the new mutation in her parents. PolyPhen-2 and Mupro in silico studies were performed to identify probable changes in wild-type and mutant structures. 1.3. Results: WES analysis showed a novel mutation in FGFR1 (NM 023110: exon18:c.G2313A:p.M771I) in the case. Her par ents’ Sanger sequencing revealed heterozygosity in her father and homozygosity of the normal allele in her mother. In silico inves tigations revealed no significant differences in pathogenic effects. 1.4. Conclusion: Altogether, our findings revealed no pathogen ic effect of the new mutation (M771I) of the FGFR1 gene in an Iranian 30-year-old woman. Because of hearing loss importance in preclinical diagnosis, this benign variant could help with the FGFR1 role on hearing loss in future pregnancies.