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Development of a SNP-based tool for the identification and discrimination of and .

Bull Entomol Res 2021 Jan 19:1-6. Epub 2021 Jan 19.

Molecular Ecology, Agroscope, Zürich, Switzerland.

The European (Melolontha melolontha L.) and Forest (M. hippocastani F. Read More

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January 2021

[Investigation of Ganciclovir Resistance in Cytomegalovirus Strains Obtained from Immunocompromised Patients].

Mikrobiyol Bul 2020 Oct;54(4):619-628

Istanbul University Cerrahpasa Medical Faculty, Department of Medical Microbiology, İstanbul, Turkey.

CMV is a virus that is asymptomatic in healthy individuals but can cause serious mortality and morbidity in transplant patients and patients with acquired immunodeficiency syndrome (AIDS). Ganciclovir (GCV) is a nucleoside analog that significantly reduces morbidity and mortality in CMV-related infections and is used as the first choice in treatment. It is the first drug shown to be effective in the treatment of CMV disease in humans, and is also homologous to acyclovir. Read More

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October 2020

A118G polymorphism of OPRM1 gene caused different morphine consumption in female patients after total knee replacement.

J Orthop Sci 2020 Aug 12. Epub 2020 Aug 12.

Department of Orthopaedics, Kaohsiung Veterans General Hospital, Taiwan; Nursing College, Fooyin University, Kaohsiung, Taiwan. Electronic address:

Background: We intended to clarify the effect of gender and A118G polymorphism of Opioid Receptor μ1 (OPRM1) on the required morphine for patients to maintain Visual Analogue Scale ≦ 3 for post-operative pain control after total knee replacement (TKR).

Methods: With approval from Institutional Review Board (IRB) and obtainment of informed consents, 111 patients undergoing primary TKR were enrolled without violating the exclusion criteria, including previous history of allergy to morphine, alcohol or substance abuse, use of psychotropic medications, morbid obesity of body mass index (BMI) > 40 kg/m, chronic pain with evidence of central sensitization, and uncooperative use of patient controlled analgesia (PCA) device. The amount of PCA-delivered morphine for pain control and the 'demand' (the count of button pushing for requiring pain medication from PCA) were recorded at 3, 6, 12, 24, 36, 48 and 72 h after the operation. Read More

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Why is the novel Hb Miguel Servet visualised by CE-HPLC newborn and not by the CE-HPLC β-thalassaemia programme?

J Clin Pathol 2021 Mar 12;74(3):198-201. Epub 2020 Aug 12.

Hematología, Hospital Clínico San Carlos, Madrid, Spain

Screening of haemoglobinopathies is indicated for the detection of sickle cell anaemia; thus, neonates can benefit from early and adequate treatment that prevents neurological damage, reduces morbidity and mortality associated with the disease. These types of programmes sometimes lead to unexpected findings. We present a new haemoglobin (Hb) variant (Hb Miguel Servet) detected by newborn screening. Read More

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Single Nucleotide Polymorphism Assay for Genetic Identification of Lophophora williamsii.

J Forensic Sci 2020 Nov 29;65(6):2117-2120. Epub 2020 Jul 29.

Forensic DNA Division, National Forensic Service, Wonju, 26460, Korea.

Lophophora is a member of the Cactaceae family, which contains two species: Lophophora williamsii and L. diffusa. Lophophora williamsii is an illegal plant containing mescaline, a hallucinogenic alkaloid. Read More

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November 2020

HIV-DNA undetectability during chronic HIV infection: frequency and predictive factors.

J Antimicrob Chemother 2020 10;75(10):2994-2997

Vita-Salute San Raffaele University, Milan, Italy.

Background: HIV-DNA is a marker of HIV reservoirs. Objectives of the study were to determine prevalence of HIV-DNA < 100 copies/106 PBMCs in blood and to identify factors associated with this in a cohort of HIV-1-infected subjects treated with ART and with undetectable viral load (VL).

Methods: This was a cross-sectional study on chronic HIV-1-infected people living with HIV (PLWH) followed up at the Department of Infectious Diseases of San Raffaele Scientific Institute on current ART without change for 12 months, with available pre-ART HIV-RNA and with undetectable VL for ≥12 months. Read More

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October 2020

Association of IVS6A GATT polymorphism of CFTR gene with cystic fibrosis: first study in CF and normal Tunisian population.

Ann Biol Clin (Paris) 2020 Jun;78(3):314-318

Biochemistry laboratory, Children's hospital Bechir Hamza, Research laboratory LR00SP03, Tunis, Tunisia.

Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians, caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The analysis of some extra and intragenic markers within or closely linked to CFTR gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of CF is highly heterogeneous in our population is explained in the present study. Read More

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Characterization of mitochondrial COX-1 gene of Sarcoptes scabiei from rabbits in East Java, Indonesia.

J Adv Vet Anim Res 2019 Dec 11;6(4):445-450. Epub 2019 Sep 11.

Department of Clinical Sciences, Faculty of Veterinary Medicine, Universitas Airlangga, Surabaya 60115, Indonesia.

Objective: The purpose of this study was to characterize the mitochondrial COX-1 gene of in rabbits from three districts of Malang, Nganjuk, and Kediri, East Java, Indonesia. The gene was aligned with a DNA isolated from of Chong'qing rabbit (accession number: EU256388.1) to construct a molecular analysis of phylogenetic in COX-1 gene. Read More

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December 2019

Molecular Genetics and the Incidence of Transmitted Drug Resistance Among Pre-Treatment HIV-1 Infected Patients in the Eastern Cape, South Africa.

Curr HIV Res 2019 ;17(5):335-342

Applied Environmental and Microbiology Research Group, University of Fort Hare, Private Mail Bag X1314, Alice 5700, Eastern Cape, South Africa.

Background: Transmitted drug resistance (TDR) remains a significant threat to Human immunodeficiency virus (HIV) infected patients that are not exposed to antiretroviral treatment. Although, combined antiretroviral therapy (cART) has reduced deaths among infected individuals, emergence of drug resistance is gradually on rise.

Objective: To determine the drug resistance mutations and subtypes of HIV-1 among pre-treatment patients in the Eastern Cape of South Africa. Read More

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[Detection and Molecular Characterization of Human Adenoviruses from Acute Conjunctivitis Cases].

Mikrobiyol Bul 2019 Jul;53(3):297-307

Mersin University, Faculty of Medicine, Department of Medical Microbiology, Mersin, Turkey.

Human adenoviruses (hAdV) can cause a wide range of clinical diseases in children and adults that mainly affect respiratory, eye and gastrointestinal systems. Ocular hAdV infections have various clinical manifestations such as epidemic keratoconjunctivitis, pharyngoconjunctival fever and non-specific follicular conjunctivitis. The hAdV genotypes which can cause conjunctivitis vary according to geographic distribution. Read More

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[Evaluation of the Two Different Real Time Polymerase Chain Reaction Methods Used for BK Virus (BKV) Quantification and BKV Genotype Assignment].

Mikrobiyol Bul 2019 Jul;53(3):285-296

Akdeniz University Faculty of Medicine, Department of Medical Microbiology, Antalya, Turkey.

BK virus (BKV) viral load quantification has a distinct role in the clinical control of BKV nephropathy and organ rejection among renal transplant recipients. In this study, it was aimed to compare BKV DNA measurement values performed with two different real-time polymerase chain reaction (PCR) methods and to determine BKV genotypes in renal transplant recipients. Totally, 150 clinical samples tested previously in two different laboratories (Lab-1 and Lab-2) from adult and pediatric renal transplantation patients were included in the study. Read More

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Herpes simplex virus resistant to acyclovir: A single-centre experience from the Czech Republic.

J Glob Antimicrob Resist 2019 12 14;19:269-273. Epub 2019 May 14.

4th Department of Internal Medicine - Haematology, Charles University, University Hospital Hradec Kralove, Czech Republic.

Introduction And Aim: Infections caused by herpes simplex viruses (HSV) are frequent in the human population. Because of the widespread use of long-term treatment or prophylaxis by anti-herpetic antivirals in various specific medical contexts (immunosuppression, recurrent infections), the level of antiviral resistance is increasing. According to previous studies, there is a low resistance level in immunocompetent populations but a relatively high level in populations with immunodeficiency. Read More

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December 2019

Implementation and evaluation of the Presto combined qualitative real-time assay for and in Rwanda.

Afr J Lab Med 2019 18;8(1):739. Epub 2019 Apr 18.

Institute of Tropical Medicine, Department of Clinical Sciences, STI Reference Laboratory, Antwerp, Belgium.

Background: The Presto combined qualitative real-time assay for and (Presto CT/NG PCR assay) is appealing for developing countries, because it can be used with multiple DNA extraction methods and polymerase chain reaction (PCR) platforms.

Objectives: The objective of the study was to implement and evaluate the Presto CT/NG PCR assay at the National Reference Laboratory (NRL) in Kigali, Rwanda, where no real-time PCR assays for the detection of or were available.

Methods: The Presto CT/NG PCR assay was first evaluated at the Institute of Tropical Medicine (ITM) in Antwerp, Belgium. Read More

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Interpretation of the effect of CYP2C9, VKORC1 and CYP4F2 variants on warfarin dosing adjustment in Turkey.

Mol Biol Rep 2019 Apr 2;46(2):1825-1833. Epub 2019 Feb 2.

Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

It was aimed to underline the importance and explain the meaning of genetic testing in warfarin dosing and investigate and evaluate the contributions of the CYP2C9, VKORC1, and CYP4F2 variants in a Turkish population. Two hundred patients were genotyped for CYP2C9 (rs1799853, rs1057910 and rs56165452), VKORC1 (rs9934438, rs8050894, rs9923231, rs7294 and rs2359612) and CYP4F2 (rs2108622), yet, only 127 patients were found suitable for further evaluation in terms of their personal response to warfarin due to long term usage and available INR and dose usage information. The DNA sequences were determined by the ABI PRISM 3100 Genetic Analyzer to 3130xl System (Applied Biosystems, Foster City, California). Read More

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Polymorphic Variations in VDR Gene in Saudi Women with and Without Polycystic Ovary Syndrome (PCOS) and Significant Influence of Seven Polymorphic Sites on Anthropometric and Hormonal Parameters.

J Med Biochem 2018 Dec 1;37(4):415-425. Epub 2018 Dec 1.

Central Laboratory, Center for Science and Medical Studies for Girls, King Saud University, Riyadh, Saudi Arabia.

Background: This study was designed to evaluate the associations between vitamin D receptor () gene polymorphisms and biochemical characteristics of Saudi women with polycystic ovary syndrome (PCOS).

Methods: Serum levels of LH, FSH, and Vitamin D were measured in 33 women: 16 patients and 17 normal controls (18 to 36 years). DNA was extracted and used for sequencing of the exons of gene using ABI PRISM 3730xi Genetic Analyzer. Read More

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December 2018

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

JIMD Rep 2019 11;45:89-93. Epub 2018 Nov 11.

Federal State Budgetary Scientific Institution "Research Center for Medical Genetics", Moscow, Russia.

Background: Hereditary tyrosinemia (HT1) is an autosomal recessive disorder characterized by impaired tyrosine catabolism because of fumarylacetoacetate hydrolase deficiency. HT1 is caused by homozygous or compound heterozygous mutations in the FAH gene. The HT1 frequency worldwide is 1:100,000-1:120,000 live births. Read More

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November 2018

Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.

Hepatology 2019 04 1;69(4):1464-1476. Epub 2019 Mar 1.

Department of Internal Medicine IV, Medical University of Heidelberg, Heidelberg, Germany.

Wilson disease (WD) is an inherited disorder of hepatic copper metabolism with considerable variation in clinical presentations, the most common ones being liver disease and neuropsychiatric disturbances. This study investigated the clinical presentation in relation to mutations in a large cohort of patients with WD. A total of 1,357 patients (702 children, 655 adults; 1,172 index patients, 185 siblings, all with a Leipzig score ≥4, male/female: 679/678) were studied. Read More

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Analysis of T cell receptor repertoire based on Vβ chain in patients with breast cancer.

Cancer Biomark 2018 ;22(4):733-745

Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

To find out if the T cell repertoire is efficiently and specifically provoked in patients with breast cancer, we have investigated the clonotypes of main T cell subsets (based on Vβ-Chain) in tumor draining lymph nodes. CD4+ helper, CD8+ cytotoxic and (CD4+CD127dimCD25+) regulatory T cells, were negatively selected, and isolated, from lymph node mononuclear cells of 14 untreated patients with breast cancer. Four non-malignant patients, who underwent surgical operation, were also recruited as the control group. Read More

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November 2018

Carnitine levels and mutations in the SLC22A5 gene in Faroes patients with Parkinson's disease.

Neurosci Lett 2018 05 31;675:116-119. Epub 2018 Mar 31.

Department of Occupational Medicine and Public Health, The Faroese Hospital System, Tórshavn, Faroe Islands; Centre of Health Sciences, Faculty of Health Sciences, University of the Faroe Islands, Tórshavn, Faroe Islands. Electronic address:

Introduction: Mitochondrial dysfunction, oxidative stress and energy production have been implicated in the etiology of Parkinson's disease (PD). Several agents are under investigation for potential neuroprotective effects including acetyl-l-carnitine (ALC).

Objective: To investigate whether low carnitine levels and mutations in the SLC22A5 gene encoding the carnitine transporter are associates with PD risk in the Faroe Islands where the prevalence of both PD and carnitine transporter deficiency (CTD) is high. Read More

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Correlation Between Single-Nucleotide Polymorphisms Within miR-30a and Related Target Genes and Risk or Prognosis of Nephrotic Syndrome.

DNA Cell Biol 2018 Mar 22;37(3):233-243. Epub 2018 Jan 22.

Department of Nephrology, Liaocheng People's Hospital , Liaocheng, China .

This study was aimed to figure out the association of single-nucleotide polymorphisms (SNPs) within miR-30a and its downstream molecules (i.e., Notch1, Snail1, p53, CD73, and TET1) with susceptibility to and prognosis of nephrotic syndrome (NS). Read More

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Paediatric Rehabilitation Ingredients Measure: a new tool for identifying paediatric neurorehabilitation content.

Dev Med Child Neurol 2018 03 21;60(3):299-305. Epub 2017 Dec 21.

The Children's Trust, Harrison Research Centre, Tadworth, UK.

Aim: To develop an instrument (Paediatric Rehabilitation Ingredients Measure [PRISM]) for quantitative estimation of contents of interdisciplinary neurorehabilitation for use in studies of relationships between rehabilitation treatment delivered and severity-adjusted outcomes after acquired brain injury (ABI).

Method: The measure was developed using an ingredients-mediators-outcomes model consistent with the International Classification of Functioning, Disability and Health, a literature review, and other current initiatives in the development of rehabilitation treatment taxonomies, with item codevelopment in workshops with rehabilitation professionals. Interrater reliability was assessed in inpatient and residential paediatric rehabilitation settings. Read More

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The UGT1A1*28 gene variant predicts long-term mortality in patients undergoing coronary angiography.

Clin Chem Lab Med 2018 03;56(4):560-564

Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria.

Background: Uridine diphosphate glycosyltransferases 1A1 (UGT1A1) plays an essential role in detoxification and excretion of several endogenous and exogenous compounds. A functional polymorphism in the promoter of the UGT1A1 gene (TA repeat insertion, UGT1A1*28, rs3064744) has been associated with reduced UGT1A1 enzyme activity. The purpose of the present study was to investigate the role of UGT1A1 genotypes in mortality. Read More

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A new cost and time effective method for multilocus microsatellite typing (MLMT) studies: Application of Leishmania tropica isolates and clinical samples from Turkey.

J Microbiol Methods 2017 10 14;141:97-100. Epub 2017 Aug 14.

Ege University, Faculty of Medicine, Parasitology Department, Izmir, Turkey.

Molecular techniques are widely used in the field of parasitology to identify the genetic profile of the microbiological agents. Microsatellite typing studies are comprised of the amplification of polymorphic markers to analyze the fragment sizes using bioinformatics tools. Current methods need fluorescently labeled primers and size markers to obtain fragment peaks in ABI PRISM® systems and due to low discrimination power of gel-electrophoresis, it is not possible to differentiate primer-dimers from small fragments In the present study, we designed a new method for fragment analysis studies, which reduce the time by eliminating the classical PCR, the gel-electrophoresis and the preparation steps of fragment analysis. Read More

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October 2017

Study of MYOC Gene Mutation in POAG Patients in Zahedan, Iran.

Clin Lab 2017 Jul;63(7):1283-1291

Background: The second cause of blindness in the world is glaucoma that begins with visual impairments and, in many cases, ends with irreversible visual loss. Primary open-angle glaucoma (POAG) is the most common type of glaucoma, which causes irreversible optic nerve damage in adults. Glaucoma shows an unknown etiology, but there is strong evidence regarding the role of genetic factors in disease establishment. Read More

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"Squirrel" Primer-Based PCR Assay for Direct and Targeted Sanger Sequencing of Short Genomic Segments.

J Biomol Tech 2017 Sep 6;28(3):97-110. Epub 2017 Jun 6.

Division of Cancer and Stem Cell, Faculty of Medicine and Health Sciences, University of Nottingham, Nottingham, United Kingdom.

Currently, short DNA segments of sub-100 bp can be sequenced either directly by next-generation sequencing and pyrosequencing, which are expensive, or indirectly, Sanger sequencing combined with the cumbersome and failure-prone plasmid cloning. To circumvent these issues, we have generated a novel sequencing-purposed PCR assay using long-tailed primers (squirrel primers) to Sanger sequence directly sub-100 bp genomic amplicons. Squirrel primers, 40-65 nt in length, were used to amplify 51-93 bp long genomic sequences of exons 2 and 3, exon 15, exon 20, and exon 3 from colorectal cancer (CRC) cell lines and preamplified clinical CRC samples with known mutation status by PCR. Read More

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September 2017

Epidemic of wild-origin H1NX avian influenza viruses in Anhui, China.

Infect Dis Poverty 2017 Jul 3;6(1):98. Epub 2017 Jul 3.

College of Wildlife Resources, Northeast Forestry University, Harbin, 150040, Heilongjiang Province, China.

Background: As the natural hosts of avian influenza viruses (AIVs), aquatic and migratory birds provide a gene pool for genetic transfer among species and across species, forming transient "genome constellations." This work describes the phylogenetic dynamics of H1NX based on the complete molecular characterization of eight genes of viruses that were collected from 2014 to 2015 in Anhui Province, China.

Methods: Hemagglutination and hemagglutination inhibition tests were used to determine the hemagglutination (HA) activity of the HA subtypes. Read More

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The use of kDNA minicircle subclass relative abundance to differentiate between Leishmania (L.) infantum and Leishmania (L.) amazonensis.

Parasit Vectors 2017 May 16;10(1):239. Epub 2017 May 16.

Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, PU, Italy.

Background: Leishmaniasis is a neglected disease caused by many Leishmania species, belonging to subgenera Leishmania (Leishmania) and Leishmania (Viannia). Several qPCR-based molecular diagnostic approaches have been reported for detection and quantification of Leishmania species. Many of these approaches use the kinetoplast DNA (kDNA) minicircles as the target sequence. Read More

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Complete genome sequence and bioinformatics analyses of Bacillus thuringiensis strain BM-BT15426.

Microb Pathog 2017 Jul 4;108:55-60. Epub 2017 May 4.

Department of Microbial Pathogenesis, School of Dentistry, University of Maryland, Baltimore MD 21201, USA.

Objectives: This study aimed to investigate the genetic characteristics of Bacillus thuringiensis strain BM-BT15426.

Methods: B. thuringiensis strain was identified by sequencing the PCR product (amplifying 16S rRNA gene) using ABI Prism 377 DNA Sequencer. Read More

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Alcohol Brief Interventions (ABIs) for male remand prisoners: protocol for development of a complex intervention and feasibility study (PRISM-A).

BMJ Open 2017 05 4;7(4):e014561. Epub 2017 May 4.

Centre for Population Health Science, University of Edinburgh, Edinburgh, UK.

Introduction: In the UK, a significant proportion of male remand prisoners have alcohol problems. Alcohol Brief Interventions (ABIs) are an effective component of a population-level approach to harmful and hazardous drinking. ABIs have been shown to reduce the aggregate level of alcohol consumed and therefore reduce harm to the individual and to others. Read More

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Characterization of 32 microsatellite loci for the Pacific red snapper, Lutjanus peru, through next generation sequencing.

Mol Biol Rep 2017 Apr 27;44(2):251-256. Epub 2017 Apr 27.

Sociedad de Historia Natural Niparaja A.C., La Paz, Baja California Sur, Mexico.

We developed a set of hypervariable microsatellite markers for the Pacific red snapper (Lutjanus peru), an economically important marine fish for small-scale fisheries in the west coast of Mexico. We performed shotgun genome sequencing with the 454 XL titanium chemistry and used bioinformatic tools to search for perfect microsatellite loci. We selected 66 primer pairs that were synthesized and genotyped in an ABI PRISM 3730XL DNA sequencer in 32 individuals from the Gulf of California. Read More

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