Polymorphism

Profile of vitamin D receptor polymorphism Bsm I and FokI in end stage renal disease Egyptian patients on maintenance hemodialysis

Published on: 30th August, 2017

OCLC Number/Unique Identifier: 7317595147

Objective: In end stage renal disease, the synthesis of vitamin D is disturbed.Hyperparathyroidism is one of the key factors in the pathogenesis of many of the complications of dialysis mainly bone and cardiovascular complications.Aim:This study aimed at assessing vitamin D receptor gene polymorphisms BsmIand FokI in Egyptian patients with end stage renal disease on maintenance haemodialysis and the assosciation of these polymorphisms with cardiovascular complications and hyperparathyroidism among these patients. Methods: One hundred subjects, recruited from Medical Research Institute, from March to July 2014, divided into two main groups; the control group which included thirty apparently healthy subjects and the patients group which included seventy patients with end stage renal disease on maintenance haemodialysis with median 4 years. To all studied subjects, detailed history was taken, thorough physical examination, carotid intima media thickness, presence of plaques and ECG ischemic changes. Laboratory investigations included serum levels of: glucouse, urea, creatinine, uric acid, albumin, total cholesterol, low and high density lipoproteins, calcium, phosphorus, and CRP as well as plasma PTH level. For molecular studies, the detection of BsmI and FokI polymorphisms using polymerase chain reaction and restriction fragment length polymorphism (PCR / RFLP) technique. Results: 1.No statistically significant difference could be detected in both BsmI and FokI gene polymorphisms between the hemodialysis patients and the controls, suggesting that the development of ESRD had no relation with either VDR BsmI or FokI gene polymorphisms.2.No statistically significant difference were found in these polymorphisms between the hemodialysis patients with or without cardiovascular complications or between patients with PTH level less or more than 300 pg/ml. These results suggest that the development of cardiovascular complications and secondary hyperparathyroidism among Egyptian patients on maintenance haemodialysis cannot be attributed to these two gene polymorphisms. Conclusion: No association could be found between the variant alleles of BsmI and FokI gene polymorphisms and the development of ESRD, cardiovascular complications and secondary hyperparathyroidism among the studied samples of Egyptian patients on maintenance haemodialysis.
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A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy

Published on: 12th August, 2020

OCLC Number/Unique Identifier: 8667871373

Bleeding diatheses due to platelet-related disorders can present challenges to treating clinicians especially in the context of peri- and post-partum patients in the obstetric setting. TARS is an inherited disorder characterised by reduced bone marrow platelet production, skeletal deformities affecting radii and other limbs; cardiac, renal, and other heterogeneous anomalies may occur. It is caused by co-inheritance of a microdeletion and a nucleotide polymorphism in the RBM8A gene on chromosome 1. Bleeding phenotype is more severe than platelet numbers might predict especially in infants but improves with age. There is minimal literature regarding impact in pregnancy and puerperium. We describe management of three pregnancies in the haematology-obstetrics clinic. As platelet counts normally decrease through pregnancy, close monitoring is required in TAR syndrome. No major bleeding was seen antenatally but two required platelet transfusion during labour. No other treatment definitely improves bleeding, although case reports of steroids claim variable success. Tranexamic acid may be helpful, and thrombopoietin agonists represent a potential future option. 
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A mild form of Familial Mediterranean Fever associated with a polymorphisms C.NT 1588,-69G>

Published on: 11th August, 2020

OCLC Number/Unique Identifier: 8648993484

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease caused by mutation(s) in the Mediterranean fever (MEFV, pyrinmarenostrin) gene [1,2]. FMF is characterized by recurrent fever crises combined with serosal, synovial, or cutaneous inflammation and, in some individuals, by the eventual development, in the long-term, of systemic amyloidosis [3,4]. FMF mainly affects peoples living along eastern Mediterranean Sea (Turks, Sephardic Jews, Armenians) and it is not a rare disease in other Mediterranean areas such as Greeks, Italians and Iranians [4,6]. Until now, more than 304 sequence variants have been recorded [6]. In Italy M694V, V726A, M680I, M694I and E148Q are the most frequent FMF-associated mutations [7]. Here, we describe a recent case of mild FMF, characterized by all the clinical manifestations indicative of FMF described in the literature, according to Tei-Hashomer criteria [4] and by the analysis of MEFV gene, characterized by polymorphism c1588-69G>A. This is in agreement with previous our observations in a wider sample collected in the years. We are training to define the relations among gene mutations and clinical forms of FMF.
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Association of Toll-like receptor 2, 4, and 9 gene polymorphism with high altitude induced thrombosis patients in Indian population

Published on: 8th February, 2019

Venous Thromboembolism (VTE) is a multifactorial disease that is influenced by individual genetic background and various environmental factors, high altitude (HA) being the one. HA exposure may cause release of several damage associated molecular patterns (DAMPs), which act as ligand for various immune receptors. Previous studies on western population involving SNPs analysis of TLRs demonstrated that TLRs are involved in development and progression of several cardiovascular diseases. But, no such study has been done in Indian population in context of HA exposure. TLRs, being receptors play a significant role in manifestation and elimination of diseases by recognition of specific ligands and downstream signal transduction therefore; the genetic variation in TLRs could be implicated for imparting varying response of individuals to discrete diseases. Therefore, in accordance with it, in present study changes in protein structures of TLR2 and TLR4 due to presence of SNP were accessed by in-silico tools to observe whether the mutation has effect on protein structure and integrity which further influencing its function. The results showed that SNP harbouring protein has decreased functional pockets, thus may be protective for disease. Taking this lead further to genotypic level, first time association between Toll-like receptor genes polymorphism and risk of high altitude induced venous thrombosis is analyzed in Indian population by PCR RFLP method. Though the result showed initial trend that TLR2 and TLR9 SNP are monomrphic in distribution and for TLR4 there was no significant difference in distribution of SNP between healthy and HA-DVT group, these SNPs have potential to be used as susceptibility markers if studied in large population size. 
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Evaluation of genetic diversity in germplasm of paprika (Capsicum spp.) using random amplified polymorphic DNA (RAPD) markers

Published on: 27th September, 2017

OCLC Number/Unique Identifier: 7286350759

Capsicum spp. is one of the most important economical horticulture crops due to its high consumption either by fresh vegetable or dried spice. Molecular genetic markers offer a number of applications in the genetic improvement of crop plants, which plays an important role in the areas of plant classification and breeding programs. The polygenetic characters of rare species, which are difficult to analyze by traditional methods can, be analyzed easily and classified by using molecular markers. In our study, genetic relationships of twenty-two paprika species were examined to estimate their genetic variations/similarities and to detect the polymorphism present within and among the paprika species by using RAPD-PCR markers. The results revealed that the maximum similarities among the 16 ICBD lines were 100%. The ICBD 03 had 76% similarity compared with other ICBD lines. The CC01 had comparatively low similarity with ICBD forms (30%), followed by EC01 (28%), EC02 (33%), CC02 (35%), and Kt.Pl-19 (60%). The similarity between EC01 and EC02 were 54%. Kt.Pl-19 showed different similarities compared to CC01 (41%), CC02, EC01 (38%), EC02 (29%) and ICBD 03 (40%). The different combinations were tried to optimize the RAPD-PCR profile, which helped to assessing the polymorphism/similarities within and among the Paprika germoplasms were studied.
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Comprehensive phenotypic characterization and genetic distinction of distinct goosegrass (Eleusine indica L. Gaertn.) ecotypes

Published on: 4th October, 2019

OCLC Number/Unique Identifier: 8282461318

Goosegrass (Eleusine indica L. Gaertn.) is a troublesome weed in turfgrass systems throughout the world. The development of herbicide resistant ecotypes has occurred to multiple modes of action. Goosegrass is a prolific seed producer (~50,000 per plant), fast growing and diverse weed. Such growing attributes make it essential to have a better understanding of the genetic diversity of various ecotypes. The objectives of this study were to determine if morphologically distinct goosegrass ecotypes collected in Florida were phenotypically distinct and genetically different. Phenotypically, the goosegrass ecotypes can be classified as follows; dwarf, intermediate 1 (int_I), intermediate 2 (int_II) and wild. The dwarf had the least seedheads followed by the wild ecotype; 5 and 17 respectively, while int_I and int_II had highest number of seedheads; 22 and 34 respectively. The dwarf ecotype had lowest height of 6 cm and the wild ecotype had highest height of 36 cm. Dwarf and int_II ecotypes had shortest internode length of 0.2 cm and 1 cm, respectively, while the wild ecotype had longest internode length of 7 cm. The dwarf ecotype had lowest number of racemes per plant of 1, while the wild ecotype had highest number of racemes per plant of 7. Total biomass was lowest for the dwarf and int_II ecotype; 0.7 g and 1.5 g, respectively, and total biomass was highest for the wild ecotype at 5 g. Gene sequencing of two rice (Oryza) gene sequences (accession AP014964 (gene A) and AP014965 (gene B)) and subsequent phylogenetic analysis suggest the ecotypes are genetically different. Three single nucleotide polymorphisms (SNP) of interest were discovered indicating allelic differences between ecotypes.
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Gene polymorphisms CVPDr on some plants citrus in Bali Island

Published on: 7th May, 2020

OCLC Number/Unique Identifier: 8604563550

Citrus Vein Phloem Degeneration (CVPD) is the main disease of citrus plants in Indonesia. This disease is caused by Gram negative bacteria, Candidatus Liberibacter asiaticus. Almost all citrus plants are susceptible to this disease and only a few citrus plants such as seedless lime (Citrus aurantiifolia var. Seedles) and kinkit citrus (Triphacia trifoliate) are tolerant. Both of these citrus plants store DNA fragments of CVPDr which are considered as tolerant factors (841 bp). However, this study found that CVPDr DNA fragments were also found in citrus plants susceptible to CVPD disease. This research aims to study DNA polymorphisms from CVPDr DNA fragments in citrus plants on the island of Bali. The PCR test showed T. trifoliate and C. aurantifolia that are resistant to CVPD and Pylogenically are in the same group as C. nobilis var Buleleng, C. reticulate var. Slayer Buleleng, and C. amblicarpa. On the other hand, citrus plants susceptible to CVPD are in a different group. There are two types of citrus plants not containing CVPDr DNA fragments, namely C. nobilis var. Petang and M. paniculata L. These results indicate that the CVPDr DNA fragment polymorphism is a factor tolerant to CVPD disease.
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Evaluation of influence of IL-6 C-572G gene polymorphism and clinical factors on positive platelet antibody test

Published on: 15th January, 2021

OCLC Number/Unique Identifier: 8899339688

Background: Interleukin-6 (IL-6) promotes antibody production. The objective of this study was to investigate whether IL-6 C-572G single nucleotide polymorphisms (SNP) and clinical factors are associated with positive platelet antibody test. Materials and methods: Thirty platelet recipients with platelet antibodies (responders) and 20 platelet recipients without platelet antibodies (non-responders) were randomly selected. The -572 C>G (rs 1800796) SNPs in the promoter region of IL-6 gene were genotyped by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. Solid phase red cell adherence assay (SPRCA) was used for platelet antibody detection. Results: Age, sex, percentage patients with benign diseases, and percentage of patients with homozygotes for the C allele at position -572 of the IL-6 gene were similar between responders and non-responders. Although the amounts of platelets pheresis transfused to patients with hematologic diseases were higher than those of non-hematologic diseases (47.2 ± 54.2 vs. 17.4 ± 13.8 units, p = 0.019), detection rate of platelet antibodies was lower in patients with hematologic diseases than that in patients with non-hematologic diseases (42.3% vs. 79.2%, p = 0.01). Conclusion: There was no association between IL-6 C-572G gene polymorphism and positive reactivity in solid phase platelet antibody detection method in platelet recipients.
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Drug Eruptions at Patients in Consultation at the Dermatology Department of the Dermatology Teaching Hospital in Bamako, Mali: Epidemiological, Clinical and Etiological Study

Published on: 28th April, 2021

OCLC Number/Unique Identifier: 9028058489

The administration of a drug substance is an essential step in the management of a patient. It aims either to cure the patient, to prevent a given disease or sometimes to help with the diagnosis. Unfortunately, the action of the drug can go beyond the desired effect, and cause skin-mucous accidents. These accidents, also known as drug-induced attacks, can be isolated or associated with systemic manifestations [1]. Drug eruption is a real public health issue because of the high frequency. In Europe, drug eruption is responsible for about 20% of spontaneous reports of drug accidents. They complicate 2% to 3% of hospital treatments and motivate 1% of consultations, 5% of hospitalizations in dermatology [2]. Some African authors were interested in the subject. Reported prevalence in hospital settings ranges from 0.4% to 1.53% [3,4]. In Mali, there are no national figures. Old statistics from the Department of Dermatology show that about thirty cases occur each year, most of which are represented by severe forms. However, the risk of drug eruption is thought to be very high due to increased local use of drugs without medical advice, the illegal proliferation of drug outlets (‘Street Medicine’). And the lack of enforcement of existing regulations. In addition, some authors believe that the advent of antiretrovirals and the use of antiInfectious infections used to treat opportunistic infections have increased the risk of Drug eruption by 4 to 30 times, particularly in subjects infected with the acquired human immunodeficiency virus (HIV) [2]. This same risk can be observed in leprosy patients on combination chimotherapy. Clinically, the diagnosis of drug eruption is not as easy as one might think because of clinical polymorphism. The responsibility of a drug for the onset of a reaction is also not easy to establish, as in most cases several drugs are administered simultaneously before the onset of the rash. Because of illiteracy, patients find it difficult to make a complete list of the molecules consumed. To this must be added the high frequency of counterfeit medicines circulating both on the street and in private pharmacies. Given the scarcity of African studies and due to local specificities, it seemed interesting to us to undertake a study on Drug eruption in the dermatology department of the Dermatology teaching hospital of Bamako whose purpose is to study epidemiological aspects, clinical, etiological and to identify the molecules responsible in these patients.
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Time within therapeutic range: A comparison of three tacrolimus formulations in renal transplant recipients

Published on: 1st February, 2022

OCLC Number/Unique Identifier: 9415692649

Background: Currently there are three available formulations of tacrolimus in the United States; these include immediate-release capsules (TAC-IR), extended-release capsules (TAC-XL),and extended-release tablets (TAC-XR). Previous studies have demonstrated non-inferiority between the three formulations in terms of efficacy. The purpose of this study was to compare three formulations of tacrolimus (TAC) and assess differences in time within the therapeutic range (TTR) and variability in levels. Results: Renal transplant recipients from January 2013 to October 2017 were retrospectively identified for analysis. Deviation from standard TAC protocol or formulation changes excluded patients. The primary outcome compared percent TTR (TTR %) among 3 TAC formulations over the first 90 days post-transplant. TTR was calculated using the Rosendaal method. Secondary outcomes included differences in TAC levels, TAC dose, eGFR, rejection, patient and graft survival between the TAC formulations. TAC-XR demonstrated a significantly higher TTR % compared to TAC-IR and TAC-XL (62.8% vs. 53.3% vs. 60.9%, p = 0.048). In post-hoc analysis, TAC-XR had a higher TTR % compared to TAC-IR (p = 0.065), which approached statistical significance. Average TAC levels, weight-normalized TAC doses, median dose-normalized TAC levels, rejection rates, eGFR, and graft or patient survival were similar among groups. Conclusion: In the early transplant period, TTR was significantly different among the groups. TAC-XR demonstrated numerically superior time within the therapeutic range. Patient-specific factors such as race, obesity, genetic polymorphisms may impact this variability and clinical outcomes. Further analysis is necessary to understand the effect of each patient-specific factor on TAC exposure.
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ACE2 and TMPRSS2 polymorphisms and the development of COVID-19: a review of the literature

Published on: 28th April, 2022

SARS-CoV-2 is a virus that has a positive-sense, single-stranded RNA genome that encodes 4 structural proteins, the main one being the S protein (Spike) responsible for mediating with ACE2 and TMPRSS2 for entry into the host cell. The study of single nucleotide polymorphisms (SNPs) of ACE2 and TMPRSS2 can elucidate their possible intervention in the action of the protein, its activity, and the gene expression of encoding these enzymes, which may increase susceptibility to viral infection. From this, literature searches were carried out until December 2021, listing 11,820 publications for literary analysis on the described genetic variations of these protein structures, as well as their relation and influence on the pathology. It was possible to conclude that there is a great influence exerted by genetic variability in ACE2 and TMPRSS2 increasing the ability of the virus to bind to the host cell and the development of COVID-19 with complications. 
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