Publications by authors named "Cimponeriu D"

This retrospective study aimed to evaluate the characteristics of patients with long COVID syndrome. This study included 457 adults who had at least one persistent symptom after COVID-19 infection. The median time interval between the last SARS-CoV-2 infection and emergency room presentation was 3 months.

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Background: Patients that recovered from COVID-19 may remain with symptoms which can persist for an uncertain period of time.

Aim: The purpose of this study was to investigate the reasons why patients who passed the acute phase of COVID-19 presented themselves to the Emergency Department.

Patients And Methods: We selected 87 patients admitted to the Emergency Department of the Bucharest University Emergency Hospital between 01.

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Torque teno virus (TTV) is highly prevalent, but little is known about its circulation in humans. Here, we investigated the geographical distribution and phylogeny of TTV in Romania. A fragment of TTV untranslated region B was sequenced in samples from volunteers across the country.

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Background: Human anelloviruses (TTV, TTMDV and TTMV) are at high prevalence all across the globe, having also a controversial disease-inducing potential. This study aimed to estimate the prevalence of anelloviral DNA in the Romanian human population and to investigate the association of infections with common pathologies in Romanian population.

Methods: After informed consent, blood samples were collected from 2000 subjects represented by: clinically healthy individuals (n = 701) and a group of patients with pathologies linked to low grade inflammation or alteration of carbohydrate metabolism (n = 1299).

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Human torque teno viruses (TTVs) are new, emerging infectious agents, recently assigned to the family Anelloviridae. The first representative of the genus, torque teno virus (TTV), was discovered in 1997, followed by torque teno mini virus (TTMV) in 2000, and torque teno midi virus (TTMDV) in 2007. These viruses are characterized by an extremely high prevalence, with relatively uniform distribution worldwide and a high level of genomic heterogeneity, as well as an apparent pan-tropism at the host level.

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Background: Diabetes mellitus (DM)-associated chronic kidney disease (diabetic renal disease) became the predominant etiology of the end-stage renal disease (ESRD) in the western countries and shows the same trend in the developing countries. Early mortality (EM) after the dialysis initiation, defined as death of all causes within the first 3 months after initiation of renal replacement therapy (RRT), is of concern especially for the high-risk renal patients including diabetics. The goal of the present study was to identify demographic and clinical risk factors associated with EM in a retrospective cohort of Romanian DM patients initiated on dialysis.

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Torque teno viruses (TTVs) are recently discovered DNA viruses, with heterogeneous genomes, highly prevalent in populations worldwide. The species that infect humans are Torque teno virus (TTV), Torque teno midi virus (TTMDV) and Torque teno mini virus (TTMV). High-resolution melting analysis (HRMA) is a sensitive and effective method for genotyping and mutation scanning.

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Background: The distribution of BRCA mutations varies significantly between populations. The spectrum of BRCA1 and BRCA2 mutations in breast cancers in the Romanian population is incompletely known. The aim of the present study is to investigate the presence of nine BRCA mutations in patients with breast cancer identified in a surgical clinic from Bucharest.

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Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion of the excess mortality associated with type 1 diabetes (T1D). Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN.

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Colorectal cancer (CRC) is a disease preventable in up to 50% of the patients by lifestyle modifications. The preventive strategy for the decrease in the incidence and mortality of CRC is based on understanding the relations between the environmental and genetic factors. The most important identified risk factors for CRC are aging, personal and familial history of CRC or adenomas, hereditary colon cancer syndromes, dietary patterns, and inflammatory bowel disease.

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In order to make a step forward in the knowledge of the mechanism operating in complex polygenic disorders such as diabetes and obesity, this paper proposes a new algorithm (PRSD -possible restriction site detection) and its implementation in Applied Genetics software. This software can be used for in silico detection of potential (hidden) recognition sites for endonucleases and for nucleotide repeats identification. The recognition sites for endonucleases may result from hidden sequences through deletion or insertion of a specific number of nucleotides.

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SELL (L-selectin) is a candidate gene for several complex diseases including diabetes mellitus and renal failure. Our aim was to investigate the involvement of P213S SELL gene polymorphism (rs2229569) in type 2 diabetes mellitus (T2DM) and related end stage renal disease (ESRD). Type 2 diabetes mellitus patients without ESRD (n=250) or with ESRD (n=90), ESRD patients without diabetes (n=119) and sex and age matched healthy subjects (n=459) were analyzed in this study.

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The insulin -23Hph and IGF2 Apa polymorphisms were genotyped in Romanian patients with T1DM (n = 204), T2DM (n = 215) or obesity (n = 200) and normoponderal healthy subjects (n = 750). The genotypes of both polymorphisms were distributed in concordance with Hardy-Weinberg equilibrium in all groups. The -23Hph AA genotype increased the risk for T1DM (OR: 3.

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Hyperglycaemia leads to ROS (Reactive oxygen species) generation, affecting the cells that cannot decrease glucose uptake such as: glomerular epithelial cells, mesangial cells and proximal tubule cells. ROS excess seems to activate important pathogenic pathways of development of diabetic nephropathy. The decrease of CAT activity, one of the most important antioxidant enzymes, following to some genetic defects, may be a risk factor for diabetic nephropathy.

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Background: The risk of colorectal cancer (CRC) and breast cancer (BC) is influenced by polymorphisms located in the genes encoding enzymes of the folate pathway. The aim of this study was to evaluate if A66G MTRR (rs1801394) polymorphism is involved in predisposition for colorectal and breast carcinogenesis in Romanian patients.

Materials And Methods: In the present case-control study, 300 individuals divide in four groups: sporadic CRC patients (n = 120), control CRC (n = 60), BC patients (n = 60) and control BC (n = 60), were genotyped by PCR-RFLP method.

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Currently, there is no cure for the treatment of spinal muscular atrophy (SMA). Based on the available clinical and molecular findings, different therapeutic strategies were tested in vitro and in vivo and clinical trials are ongoing. The main therapeutic direction is focused on the enhancement of SMN expression by increasing the full-length (fl) SMN2 transcript levels, preventing the SMN exon 7 from skipping or from protein stabilizing.

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Diabetic nephropathy is a major complication of type 1 diabetes whose pathogenesis is insufficiently known, but oxidative stress and genetic susceptibility seem to be involved. The purpose of this study is to assess the possible association of +35A/C (rs2234694) polymorphism in SOD1-gene with advanced stages of diabetic nephropathy in patients with type 1 diabetes in Romania. There have been enrolled 238 unrelated patients, having type 1 diabetes, divided into group A (106 patients) with diabetic nephropathy - macroalbuminuria or ESRD (End Stage Renal Disease) and group B (132 patients) without diabetic nephropathy.

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Background: The insertion/deletion polymorphism of the angiotensin I-converting enzyme (ACE) gene has recently been linked to the pathogenesis of human cancers. The goal of this study was to analyze the possible association between ACE gene I/D polymorphism and colorectal cancer in Romanian patients.

Methods: Blood samples were obtained, after informed consent, from individuals with colorectal cancer (n=108, M:W = 64:44), and healthy persons (n=150, M:W = 84:66).

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Mutations in adenomatous polyposis coli (APC) gene have not been previously characterized among Romanian patients with colorectal cancer (CRC). We initiate this study to detect the mutations in APC gene in blood and tumor samples collected from 16 patients (10 men and 6 women) and blood samples from 21 first and second degree relatives of the patients. For this the presence of mutations in exons 6, 7, 12, 13, 14 as well as in regions B, L and W of exon 15 was investigated using PCR multiplex.

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The polygenic etiology of familial colorectal cancer and other digestive tract cancers has been acknowledged and therefore a study subject by means of various techniques such comparative genomic hybridization, serial genetic analysis (APC, CGH) or DNA arrays. Our paper is the first presentation of a CNCSIS research project named: "Analiza unor factori moleculari implicaţi in stabilirea riscului statistic de îmbolnăvire la descendentii probanzilor cu cancer rectocolonic" and also presents the case of a 12 members family in which 3 had already been diagnosed with colonic or rectal cancer. The APC gene methylation profile was studied in order to establish both the gene implication in cancer development within the family and the risk of colorectal cancer for the healthy family members.

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Vitiligo has been associated with the host's genetic profile, metabolic abnormality and immunostatus. The purpose of this study was to investigate the association of vitiligo with autoimmune diseases for 31 out of 39 subjects with vitiligo and their first-degree relatives living in a small Caucasian inbred rural community. They were compared with healthy individuals.

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About 30% of couple infertilities are of male origin, some of them caused by genetic abnormalities of the Y chromosome. Deletions in AZF region can cause severe spermatogenic defects ranging from non-obstructive azoospermia to oligospermia. The intracytoplasmatic sperm injection technique (ICSI) is rapidly becoming a versatile procedure for human assisted reproduction in case of male infertility.

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Primary gastrointestinal infection is an uncommon manifestation of histoplasmosis. It is almost always associated with disseminated disease and/or an immunocompromised host. The ileum and cecum are the most common sites involved.

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