10 research outputs found
Wet environmental conditions affecting narrow band on-body communication channel for WBANs
© 2018 Old City Publishing, Inc. Wireless Body Area Networks (WBANs) are rising as the key building blocks of next generation networks in modern health care systems. Research in recent years has focused on channel modelling, energy conservation and design of efficient Medium Access Control (MAC) schemes for WBANs. However, less attention has been paid to the on-body channel propagation analysis. This paper presents the propagation effects of wet clothing on the on-body channel at 0.9GHz, 1.8GHz and 2.5GHz and is germane to signal budgets in body-centric and mobile communication systems. A number of transmission measurements between simple monopoles above a square ground plane, placed on the opposing shoulder and hip, wearing single and multi-layered “rainwater wet” and dry cotton T-Shirts for standing, bending, torso left and right are used to gain insight into general levels of the effect of rainwater on propagation. Measured results are statistically processed to extract the level of transmission enhancement due to a wet on-body channel. Results show that wet clothing is generally beneficial to the channel at popular mobile communications frequencies
Distribution of ACE I/D Polymorphism in the Patients of Diabetes and Nephropathy in Pakistan
Diabetes mellitus (DM) is a chronic metabolic syndrome that can lead to serious vascular complications. Diabetic nephropathy (DN) has been established as the leading cause of deaths in diabetes due to ESRF. The association between ACE gene polymorphism and onset of DN has not been explored in Pakistani diabetic patients. This study investigates the possible association of insertion (I) and deletion (D) polymorphism of ACE gene in patients of diabetes with and without nephropathy. Total 296 diabetic patients without nephropathy (DM), 168 with nephropathy (DN) and 150 normal healthy individuals were selected followed by informed consent. Fasting blood samples were collected for biochemical analyses and PCR amplification was done to genotype the DNA, for ACE I/D using specific primers. In DM group, the ACE genotypes were distributed as II, 41.55%, DD, 8.45% and ID, 50%. In DN patients, II, 10.71%, DD, 30.95% and ID, 58.33%. The II and DD genotype, and I and D allele distributions were significantly different in DN vs. DM patients (chi(2)=9.879, P=0.00167). The I/D genotypes and allele distributions were significantly different in DN patients vs. controls (chi(2)=22.252, P=0.00000239). The DN patients have significantly higher prevalence of D allele and DD genotype in comparison to DM. Results indicated a clear association of D allele polymorphism in ACE gene with nephropathy in patients of diabetes. It is suggested that D allele polymorphism may be considered as genetic risk factor and disease marker for nephropathy in diabetes
Identification and <i>In Silico</i> Analysis of a Homozygous Nonsense Variant in <i>TGM1</i> Gene Segregating with Congenital Ichthyosis in a Consanguineous Family
Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan. Materials and Methods: A consanguineous family with lamellar ichthyosis was enrolled from Balochistan, Pakistan. PCR amplification of all the exons and splice site junctions of the TGM1 gene followed by Sanger sequencing was performed on the genomic DNA. The identified variant was checked by In silico prediction tools to evaluate the effect of the variant on protein. Results: Sanger sequencing identified a homozygous nonsense variant c.131G >A (p.Trp44*) in the TGM1 gene that segregated in the autosomal recessive mode of inheritance in the family. The identified variant results in premature termination of transcribed mRNA and is predicted to cause a truncated or absent translation product transglutaminase-1 (TGase-1) accompanied by loss of catalytic activity, causing a severe clinical phenotype of lamellar ichthyosis in the patients. Conclusions: Here, we report a consanguineous lamellar ichthyosis family with a homozygous nonsense variant in the TGM1 gene. The variant is predicted as pathogenic by different In silico prediction tools
Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis
Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along the eyelid margins, variable signs of hoarseness of voice and respiratory disorders. More than 250 cases of this disorder have been described in the literature, but occurrence of lipoid proteinosis in siblings is very rare. This study was designed to investigate the possible mutation causing lipoid proteinosis in a Pakistani family and to elaborate the scope of possible genetic changes, causing the genodermatosis in Pakistan.
Main observations: In this study, two siblings (12 and 9-years sisters) were presented with scaly itchy lesions on whole body, hoarse voice and macroglossia. Their deceased father had similar clinical manifestations but mother and younger brother were unaffected. Blood samples from clinically affected and unaffected family members were collected with informed consent. The coding region of ECM1 gene containing 10 exons were amplified and sequenced. Both the affected siblings were shown to have homozygous frame shift mutation by deletion of the nucleotide T at 507, codon 169, exon 6. This resulted in a frame shift from codon 169 and appearance of a premature stop codon at 177, causing formation of a mutated protein (176 amino acids) instead of normal ECM1 protein (540 amino acids).
Conclusion: A case of homozygous 62-bp insertion in ECM1 gene causing lipoid proteinosis has been reported in another Pakistani family. The current study presents a homozygous frame shift mutation supporting an unusual function of ECM1 protein and broadens the spectrum of disease-linked mutations in this rare case of genodermatosis in this regio
Evaluation of Matrix Metalloproteinases, Cytokines and Their Potential Role in the Development of Ovarian Cancer.
Ovarian cancer is the 5th most common cause of deaths in the women among gynecological tumors. There are many growing evidences that stress and other behavioral factors may affect cancer progression and patient survival. The purpose of this study is to determine the key role of matrix metalloproteinases (MMPs), and cytokines in the aggregation and progression of ovarian cancer.Stress variables (MDA, AGEs, AOPPs, NO), profile of antioxidants (SOD, Catalase, Vitamin E & A, GSH, GRx, GPx) and inflammatory biomarkers (MMP-9, MMP-2, MMP-11, IL-1α and TNF-α) were biochemically assessed from venous blood of fifty ovarian cancer patients and twenty healthy control subjects. The results of all parameters were analyzed statistically by independent sample t-test.The results of the study demonstrated that the levels of stress variables like MDA (3.38±1.12nmol/ml), AGEs (2.72±0.22 ng/ml), AOPPs (128.48±27.23 ng/ml) and NO (58.71±8.67 ng/ml) were increased in the patients of ovarian cancer as compared to control individuals whereas the profile of antioxidants like SOD, Catalase, Vitamin E, Vitamin A, GSH and GRx were decreased in ovarian cancer patients (0.11±0.08 μg/ml, 2.41±1.01μmol/mol of protein, 0.22±0.04 μg/ml, 45.84±9.07μg/ml, 4.88±1.18μg/ml, 5.33±1.26 μmol/ml respectively). But the level of GPx antioxidant was increased in ovarian cancer patients (6.58±0.21μmol/ml). Moreover the levels of MMP-9 (64.87±5.35 ng/ml), MMP-2 (75.87±18.82 ng/ml) and MMP-11 (63.58±8.48 ng/ml) were elevated in the patients. Similarly, the levels of various cytokines TNF-α and IL-1α were also increased in the patients of ovarian cancer (32.17±3.52 pg/ml and 7.04±0.85 pg/ml respectively).MMPs are commonly expressed in ovarian cancer which are potential extrapolative biomarkers and have a major role in metastasis. Due to oxidative stress, different cytokines are released by tumor associated macrophages (TAMs) that result in the cancer progression. Consequently, tissue inhibitors of matrix metalloproteinases (TIMPs) are the valuable therapeutic approaches to complement conservative anticancer strategies
Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nephropathy
Pearson's Correlation Coefficients of Different Variables in Ovarian Cancer Patients.
<p>Pearson's Correlation Coefficients of Different Variables in Ovarian Cancer Patients.</p
Oxidative Stress, Inflammatory Biomarkers and Matrix Metalloproteinases Status in Ovarian Cancer Patients.
<p>Oxidative Stress, Inflammatory Biomarkers and Matrix Metalloproteinases Status in Ovarian Cancer Patients.</p