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Volumen 30 (2022): Edición 4 (October 2022)

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Detalles de la revista
Formato
Revista
eISSN
2284-5623
Publicado por primera vez
08 Aug 2013
Periodo de publicación
4 veces al año
Idiomas
Inglés

Buscar

Volumen 30 (2022): Edición 3 (July 2022)

Detalles de la revista
Formato
Revista
eISSN
2284-5623
Publicado por primera vez
08 Aug 2013
Periodo de publicación
4 veces al año
Idiomas
Inglés

Buscar

10 Artículos
Acceso abierto

Normality assessment, few paradigms and use cases

Publicado en línea: 18 Jul 2022
Páginas: 251 - 260

Resumen

Abstract

Background: The importance of applying the normality tests is underlined by the way of continuing the statistical protocol for numerical data within inferential statistics, respectively by the parametric or non-parametric tests that we will apply further on.

Methods: To check the calculation mode, we used sets of random values and we performed the normality assessment using statistical calculation programs. We took non-Gaussian data (n = 30, n = 50, n = 100, n = 500) and Gaussian data (n = 30, n = 50, n = 100, n = 500) for which we checked the normality of the data. Data chosen for this study were most representative for each batch (n).

Results: The application of normality tests to the data under study confirms that the data are non-Gaussian for the first data set. For the Gaussian data sample, the verification of normality is confirmed by the results.

Conclusion: For data up to 50 subjects, it is recommended to apply the Shapiro-Wilk test, but also to apply graphical methods to confirm the accuracy of the result. If the data samples have more than 50 values, the D’Agostino & Pearson omnibus normality test should be applied and if the statistical program does not contain this test, the Shapiro-Wilk test can be applied (in the case of SPSS). Graphical methods, although they require some experience, are useful for identifying the normality of distributions with a small number of data.

Palabras clave

  • normality test
  • Gaussian distribution
  • Q-Q plot diagrams
Acceso abierto

Downregulation of hsa-miR-4328 and target gene prediction in Acute Promyelocytic Leukemia

Publicado en línea: 18 Jul 2022
Páginas: 261 - 272

Resumen

Abstract

Introduction: Acute promyelocytic leukemia (APL) is defined by the PML-RARA fusion gene. APL treatment can have significant side effects, therefore the development of optimal therapeutic options is crucial. Although the study of miRNAs is still in its infancy, it has been shown that these molecules are involved in the pathogenesis of neoplasms by modulating the expression of target genes. miRNAs can be considered possible biomarkers in APL and can be used as therapeutic targets or as markers for the therapeutic response.

Objectives: The purpose of this study was to determine whether differentially expressed putative miRNAs that have RARA as a target gene could be considered reliable biomarkers for APL.

Methods: Using bioinformatics tools, a panel of 6 miRNAs with possible tropism for the RARA gene was selected from miRDB. We evaluated their expression levels in samples from patients with APL (n=20) or from healthy subjects without mutations in genes associated with leukemia or myeloproliferative diseases (n=21).

Results: All 6 putative miRNAs were identified using electrophoresis (hsamir-4299, hsa-mir-4328, hsa-mir-7851-3p, hsa-mir-6827-5p, hsa-mir-6867-5p, hsa-mir-939-5p). Of the six miRNAs, hsa-mir-4328 is deeply downregulated in subjects diagnosed with APL compared to healthy subjects, whereas hsa-mir-4299 and hsa-mir-7851-3p show small differences in expression between the two study groups, but without statistical significance. Our results suggest that hsa-mir-4328 may have a role in the pathogenesis of APL and may represent a new biomarker for this type of leukemia. Key Words: miRNA, APL, leukemia, bioinformatics.

Palabras clave

  • miRNA
  • APL
  • leukemia
  • bioinformatics
Acceso abierto

Expressions of TGF-β1 and VEGF in patients with acute myeloid leukemia and associations with prognosis

Publicado en línea: 18 Jul 2022
Páginas: 273 - 280

Resumen

Abstract

Background: To study the expressions of transforming growth factor-β1 (TGF-β1) and vascular endothelial growth factor (VEGF) in patients with acute myeloid leukemia (AML) and their values for prognosis.

Methods: A total of 120 AML patients treated from January 2015 to December 2018 were selected. Bone marrow mononuclear cells were isolated. The expressions of TGF-β1 and VEGF were detected by RT-PCR, and their associations with clinical characteristics were analyzed. The overall survival (OS) and disease-free survival (DFS) were assessed using the Kaplan-Meier method. The risk factors for prognosis were analyzed through the Cox proportional hazards model.

Results: The AML group had significantly lower relative expression of TGF-β1 and higher relative expression of VEGF than those of the control group (P<0.05). TGF-β1 and VEGF levels were significantly correlated with white blood cell count, hemoglobin, platelets, and peripheral blood juvenile cells (P<0.05). TGF-β1 level was higher and VEGF level was lower in the patients with complete response than those in the patients with partial response and no response (P<0.05). Both OS and DFS of the patients with high TGF-β1 expression were better than those of the patients with low TGF-β1 expression, while they were also superior among the patients with low VEGF expression (P<0.05). Platelets, TGF-β1 and VEGF were independent influencing factors for OS, and white blood cells, TGF-β1 and VEGF were independent influencing factors for DFS (P<0.05).

Conclusions: AML patients have decreased expression of TGF-β1 and increased expression of VEGF, and such changes are closely associated with the prognosis of AML.

Palabras clave

  • TGF-β1
  • VEGF
  • acute myeloid leukemia
  • prognosis
Acceso abierto

SPP1 is a biomarker of cervical cancer prognosis and involved in immune infiltration

Publicado en línea: 18 Jul 2022
Páginas: 281 - 292

Resumen

Abstract

Background: Cervical cancer is the fourth commonly occurred cancer in women around the world. However, it still lacks effective approaches to improve current prognosis of cervical cancer and prevent metastasis.

Objective: We aim to discover a promising biomarker for cervical cancer prognosis by utilizing bioinformatics analysis.

Methods: Gene expression was analyzed by the datasets from The Cancer Genome Atlas Program-Cervical squamous cell carcinoma and endocervical adenocarcinoma (TCGA-CESC) dataset and three independent patient cohort datasets. Biological process and pathway enrichment were performed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways analysis. Immune infiltration was analyzed through TISIDB tool.

Results: SPP1 gene was highly expressed in cervical cancer tissues. In addition, SPP1 was positively correlated to advanced CESC stages and nodal metastasis status. SPP1 co-expressed genes are mainly enriched in immunological processes. Furthermore, SPP1 expression is involved in immune infiltration level, in which several tumour infiltrating lymphocytes are correlated with SPP1. SPP1 overexpression promotes a wide spectrum of chemokines and immunoinhibiors which contribute to CESC progression.

Conclusions: SPP1 is a promising biomarker and a prognostic factor of CESC. Tumour infiltrating lymphocytes are also possibly regulated by SPP1. Our study suggests that investigation on SPP1 is a new direction for CESC therapy.

Palabras clave

  • bioinformatics analysis
  • SPP1
  • tumour infiltrating lymphocytes
  • cervical cancer
Acceso abierto

Associations of serum vitamin D and Fok I polymorphism of receptor gene with unexplained recurrent spontaneous abortion

Publicado en línea: 18 Jul 2022
Páginas: 293 - 304

Resumen

Abstract

Background: To investigate the associations of serum vitamin D and Fok I polymorphism of its receptor (VDR) with unexplained recurrent spontaneous abortion (URSA).

Methods: Ninety URSA patients and another 104 healthy pregnant women were selected as URSA and control groups, respectively. 25-Hydroxyvitamin D [25-(OH)D] level was detected by chemiluminescence. VDR gene Fok I polymorphism was analyzed by PCR, and the distribution of genotype frequency was calculated by Hardy-Weinberg equilibrium test. Association between Fok I polymorphism and susceptibility to URSA was investigated by logistic regression analysis.

Results: Gestational age, uterine height, waist circumference, 25-(OH)D level and proportions of Fok I FF and Ff genotypes were significantly lower in the URSA group (P<0.05). Compared with ff genotype, risk of URSA reduced for Ff and FF genotypes. Compared with allele f, risk of URSA was lower for allele F. 25-(OH)D level of ff genotype was significantly lower in the URSA group, which was lower than that of FF genotype (P<0.05). Compared with women with 25-(OH)D level >30 ng/mL and F allele (FF+Ff), the risk of URSA increased 2.45-, 2.43- and 5.34-fold for those with 25-(OH)D level >30 ng/mL and ff genotype, with 25-(OH)D level ≤30 ng/mL, and with ff genotype and 25-(OH)D level ≤30 ng/mL, respectively.

Conclusions: The 25-(OH)D level of the URSA group was significantly lower than that of normal pregnant women. Probably, VDR gene Fok I polymorphism is associated with URSA occurrence, and allele F decreases the risk. The risk of URSA dramatically increases in women with ff genotype and 25-(OH)D deficiency.

Palabras clave

  • vitamin D
  • receptor gene
  • polymorphism
  • recurrent spontaneous abortion
Acceso abierto

Expression of serum soluble Klotho protein in patients with renal damage induced by anti-neutrophil cytoplasmic antibody-associated small-vessel vasculitis and influence on prognosis

Publicado en línea: 18 Jul 2022
Páginas: 305 - 314

Resumen

Abstract

Background: Anti-neutrophil cytoplasmic antibody-associated small-vessel vasculitis (AASV) is an autoimmune disease with unclear pathogenesis, which causes damage to multiple organs and systems, renal failure or even death. We aimed to explore the expression of serum soluble Klotho protein in patients with AASV-induced renal damage and influence on prognosis.

Methods: A total of 330 AASV patients treated from June 2012 to June 2014 were divided into renal damage and non-renal damage groups. Clinical symptoms and laboratory examination results were compared. They were divided into Klotho <935.05 pg/mL and ≥935.05 pg/mL groups, and renal damage and pathological indices were compared. Survival curves were plotted using Kaplan-Meier method, and 5-year and renal survival rates were compared.

Results: Compared with the non-renal damage group, the mean arterial pressure, urine protein and blood creatinine levels significantly rose, while the red blood cell count, hemoglobin, serum albumin, and Klotho protein levels declined in the renal damage group (P<0.05). The optimal cut-off value of Klotho protein in assessing renal damage was 935.05 pg/mL. Compared with Klotho ≥935.05 pg/mL group, the levels of blood creatinine and urine protein significantly increased, and the proportion of normal glomeruli decreased, while that of fibrous crescents rose in Klotho <935.05 pg/mL group (P<0.05). The 5-year renal survival rate was significantly lower in Klotho <935.05 pg/mL group than that in Klotho ≥935.05 pg/mL group (P<0.05).

Conclusions: Klotho protein is lowly expressed in patients with renal damage induced by AASV as a potential marker for early diagnosis and prognostic evaluation.

Palabras clave

  • Klotho protein
  • anti-neutrophil cytoplasmic antibody
  • small-vessel vasculitis
  • renal damage
  • prognosis
Acceso abierto

Carbapenem resistance determinants in Klebsiella pneumoniae strains isolated from blood cultures-comparative analysis of molecular and phenotypic methods

Publicado en línea: 18 Jul 2022
Páginas: 315 - 326

Resumen

Abstract

Introduction: This study provides data on carbapenemases identified in carbapenem-resistant Klebsiella pneumoniae (CR-KP) isolated from blood-cultures by the multiplex molecular method.

Material and method: Between October 2016 and September 2017, 47 non-duplicate Klebsiella pneumoniae (KP) were isolated from blood cultures, from hospitalized patients in the Regional Institute of Gastroenterology and Hepathology, Cluj-Napoca, Romania. Identification and antimicrobial susceptibility tests (AST) were performed by Vitek 2 Compact. The combination disks test (CDT) was used for phenotypic analysis and the LightCycler® Multiplex DNA assay was used to detect and identify the carbapenemases by the LightCycler®z 480 Instrument. The following targets were chosen: blaKPC, blaNDM, blaGES, blaIMP and blaOXA-48 genes and the Cobas® 4800 software variant 2.2.0 was used for the results interpretation.

Results: Taking into consideration the meropenem minimum inhibitory concentration (MIC), 29 KP were susceptible and 18 were not-susceptible (MIC≥0.5 µg ml-1). In the CR-KP group, the CDT identified OXA-48 (10/18) and KPC (7/18) producers. One isolate showed a noninterpretable profile. The multiplex molecular analyses confirmed the carbapenemases production as: 9 CR-KP were KPC and OXA-48 co-producers, 8 were OXA-48 and one was KPC producing strains. In CR-KP group, we found a significant correlation between the CDT and RT-PCR tests results, concerning KPC (p = 0.671). Eight phenotypic results were confirmed by molecular Light-Cycler® Multiplex DNA assay. For CR-KP co-producers (KPC and OXA-48), the CDT could indicate only one carbapenem-hydrolyzing enzyme.

Conclusion: This study highlights the CR-KP co-producers (OXA-48 and KPC). OXA-48-like is more frequently encountered in our area than other carbapenemases.

Palabras clave

  • carbapenem resistance (CR)
  • real-time polymerase chain reaction (RT-PCR)
  • carbapenem-resistant Klebsiella pneumoniae (CR-KP)
Acceso abierto

Antibacterial Activity of Clove, Oregano, Thyme, Eucalyptus, and Tea Tree Essential Oils against Escherichia coli and Klebsiella pneumoniae strains

Publicado en línea: 18 Jul 2022
Páginas: 327 - 338

Resumen

Abstract

Background: In view of the high recurrence rate of urinary tract infections and the increasing number of germs resistant to multiple antibiotics, the aim of the present study was to evaluate the antibacterial properties of clove, oregano, thyme, eucalyptus, tea tree essential oils (EOs) against 32 isolates of Escherichia coli and 28 isolates of Klebsiella pneumoniae from patients with urinary tract infections (UTI).

Methods: The agar disk diffusion method was used to assess the susceptibility of these isolates to essential oils and the minimal inhibitory concentration (MIC), and the minimal bactericidal concentration (MBC) were determined.

Results: Our results suggest that volatile phenols (such as carvacrol in oregano EO, thymol in thyme EO, and eugenol in clove EO) are more efficacious as antibacterial than non-aromatic compounds (such as eucalyptol in eucalyptus EO and terpinene derivatives in tea tree EO).

Conclusion : The oregano EO, followed by thyme appear to have the highest efficacy against Escherichia coli and Klebsiella pneumoniae isolates investigated.

Palabras clave

  • Escherichia coli
  • essential oils
  • urinary tract infections
  • Klebsiella pneumoniae
Acceso abierto

Elbow Septic Arthritis caused by Klebsiella pneumoniae in a Newborn - Case Report and Literature Review

Publicado en línea: 18 Jul 2022
Páginas: 339 - 344

Resumen

Abstract

Septic arthritis is a rare condition in children, especially in neonates. Early recognition and proper treatment are required to avoid serious complications. We present the case of a male newborn diagnosed with septic arthritis of the right elbow who was treated with repeated joint aspiration and i.v. antibiotics (Amikacin and Meropenem). Blood culture and joint cultures were positive for Klebsiella pneumoniae. The final outcome was good, with no apparent local or systemic complications. General considerations regarding this rare condition, etiology and treatment options are also included in the paper.

Palabras clave

  • septic arthritis
  • elbow arthritis
  • newborn
  • aspiration
  • K. pneumoniae
Acceso abierto

Novel DCX pathogenic variant in a girl with subcortical band heterotopia

Publicado en línea: 18 Jul 2022
Páginas: 345 - 352

Resumen

Abstract

Subcortical band heterotopia (SBH), is a brain malformation defined by symmetrical and bilateral heterotopic gray matter bands localized deep within the white matter, between the cortex and lateral ventricles. SBH is the result of abnormal neuronal migration, with improper positioning of the cortical neurons. DCX gene (doublecortin), a microtubule-associated protein with essential roles in neuronal migration and differentiation during brain development, is one of the main contributors to the X-linked Lissencephaly spectrum pathogenesis (OMIM #300067). DCX variants are responsible for SBH in females and isolated lissencephaly in males. Herein, we present a 7-year-old girl with a de novo frameshift variant in DCX gene, unreported by date. The patient has focal complex seizures with onset at 23 months of age, fully controlled with medication, mild tremor and coordination impairment of fine movements and some learning difficulties, otherwise with normal development. The brain magnetic resonance imaging revealed the presence of thick SBH. Direct sequencing of DCX gene revealed a pathogenic heterozygous cytosine duplication in exon 3; this frameshift variant leads to a premature stop codon in position 164 (p.Gln160Profs*5). The variant type and its predicted consequence at protein level correlates with the severity of radiological findings. The clinical presentation of our patient is, however, milder than expected. Our research expands the mutational spectrum of DCX gene in SBH females and provides a detailed clinical and imagistic description of the patient. This paper highlights the utility of single gene sequencing as a first-tier diagnostic test of patients with gene-specific phenotypic features.

Palabras clave

  • Sanger sequencing
  • seizures
  • band heterotopia
  • brain magnetic resonance
  • abnormal cortical development
10 Artículos
Acceso abierto

Normality assessment, few paradigms and use cases

Publicado en línea: 18 Jul 2022
Páginas: 251 - 260

Resumen

Abstract

Background: The importance of applying the normality tests is underlined by the way of continuing the statistical protocol for numerical data within inferential statistics, respectively by the parametric or non-parametric tests that we will apply further on.

Methods: To check the calculation mode, we used sets of random values and we performed the normality assessment using statistical calculation programs. We took non-Gaussian data (n = 30, n = 50, n = 100, n = 500) and Gaussian data (n = 30, n = 50, n = 100, n = 500) for which we checked the normality of the data. Data chosen for this study were most representative for each batch (n).

Results: The application of normality tests to the data under study confirms that the data are non-Gaussian for the first data set. For the Gaussian data sample, the verification of normality is confirmed by the results.

Conclusion: For data up to 50 subjects, it is recommended to apply the Shapiro-Wilk test, but also to apply graphical methods to confirm the accuracy of the result. If the data samples have more than 50 values, the D’Agostino & Pearson omnibus normality test should be applied and if the statistical program does not contain this test, the Shapiro-Wilk test can be applied (in the case of SPSS). Graphical methods, although they require some experience, are useful for identifying the normality of distributions with a small number of data.

Palabras clave

  • normality test
  • Gaussian distribution
  • Q-Q plot diagrams
Acceso abierto

Downregulation of hsa-miR-4328 and target gene prediction in Acute Promyelocytic Leukemia

Publicado en línea: 18 Jul 2022
Páginas: 261 - 272

Resumen

Abstract

Introduction: Acute promyelocytic leukemia (APL) is defined by the PML-RARA fusion gene. APL treatment can have significant side effects, therefore the development of optimal therapeutic options is crucial. Although the study of miRNAs is still in its infancy, it has been shown that these molecules are involved in the pathogenesis of neoplasms by modulating the expression of target genes. miRNAs can be considered possible biomarkers in APL and can be used as therapeutic targets or as markers for the therapeutic response.

Objectives: The purpose of this study was to determine whether differentially expressed putative miRNAs that have RARA as a target gene could be considered reliable biomarkers for APL.

Methods: Using bioinformatics tools, a panel of 6 miRNAs with possible tropism for the RARA gene was selected from miRDB. We evaluated their expression levels in samples from patients with APL (n=20) or from healthy subjects without mutations in genes associated with leukemia or myeloproliferative diseases (n=21).

Results: All 6 putative miRNAs were identified using electrophoresis (hsamir-4299, hsa-mir-4328, hsa-mir-7851-3p, hsa-mir-6827-5p, hsa-mir-6867-5p, hsa-mir-939-5p). Of the six miRNAs, hsa-mir-4328 is deeply downregulated in subjects diagnosed with APL compared to healthy subjects, whereas hsa-mir-4299 and hsa-mir-7851-3p show small differences in expression between the two study groups, but without statistical significance. Our results suggest that hsa-mir-4328 may have a role in the pathogenesis of APL and may represent a new biomarker for this type of leukemia. Key Words: miRNA, APL, leukemia, bioinformatics.

Palabras clave

  • miRNA
  • APL
  • leukemia
  • bioinformatics
Acceso abierto

Expressions of TGF-β1 and VEGF in patients with acute myeloid leukemia and associations with prognosis

Publicado en línea: 18 Jul 2022
Páginas: 273 - 280

Resumen

Abstract

Background: To study the expressions of transforming growth factor-β1 (TGF-β1) and vascular endothelial growth factor (VEGF) in patients with acute myeloid leukemia (AML) and their values for prognosis.

Methods: A total of 120 AML patients treated from January 2015 to December 2018 were selected. Bone marrow mononuclear cells were isolated. The expressions of TGF-β1 and VEGF were detected by RT-PCR, and their associations with clinical characteristics were analyzed. The overall survival (OS) and disease-free survival (DFS) were assessed using the Kaplan-Meier method. The risk factors for prognosis were analyzed through the Cox proportional hazards model.

Results: The AML group had significantly lower relative expression of TGF-β1 and higher relative expression of VEGF than those of the control group (P<0.05). TGF-β1 and VEGF levels were significantly correlated with white blood cell count, hemoglobin, platelets, and peripheral blood juvenile cells (P<0.05). TGF-β1 level was higher and VEGF level was lower in the patients with complete response than those in the patients with partial response and no response (P<0.05). Both OS and DFS of the patients with high TGF-β1 expression were better than those of the patients with low TGF-β1 expression, while they were also superior among the patients with low VEGF expression (P<0.05). Platelets, TGF-β1 and VEGF were independent influencing factors for OS, and white blood cells, TGF-β1 and VEGF were independent influencing factors for DFS (P<0.05).

Conclusions: AML patients have decreased expression of TGF-β1 and increased expression of VEGF, and such changes are closely associated with the prognosis of AML.

Palabras clave

  • TGF-β1
  • VEGF
  • acute myeloid leukemia
  • prognosis
Acceso abierto

SPP1 is a biomarker of cervical cancer prognosis and involved in immune infiltration

Publicado en línea: 18 Jul 2022
Páginas: 281 - 292

Resumen

Abstract

Background: Cervical cancer is the fourth commonly occurred cancer in women around the world. However, it still lacks effective approaches to improve current prognosis of cervical cancer and prevent metastasis.

Objective: We aim to discover a promising biomarker for cervical cancer prognosis by utilizing bioinformatics analysis.

Methods: Gene expression was analyzed by the datasets from The Cancer Genome Atlas Program-Cervical squamous cell carcinoma and endocervical adenocarcinoma (TCGA-CESC) dataset and three independent patient cohort datasets. Biological process and pathway enrichment were performed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways analysis. Immune infiltration was analyzed through TISIDB tool.

Results: SPP1 gene was highly expressed in cervical cancer tissues. In addition, SPP1 was positively correlated to advanced CESC stages and nodal metastasis status. SPP1 co-expressed genes are mainly enriched in immunological processes. Furthermore, SPP1 expression is involved in immune infiltration level, in which several tumour infiltrating lymphocytes are correlated with SPP1. SPP1 overexpression promotes a wide spectrum of chemokines and immunoinhibiors which contribute to CESC progression.

Conclusions: SPP1 is a promising biomarker and a prognostic factor of CESC. Tumour infiltrating lymphocytes are also possibly regulated by SPP1. Our study suggests that investigation on SPP1 is a new direction for CESC therapy.

Palabras clave

  • bioinformatics analysis
  • SPP1
  • tumour infiltrating lymphocytes
  • cervical cancer
Acceso abierto

Associations of serum vitamin D and Fok I polymorphism of receptor gene with unexplained recurrent spontaneous abortion

Publicado en línea: 18 Jul 2022
Páginas: 293 - 304

Resumen

Abstract

Background: To investigate the associations of serum vitamin D and Fok I polymorphism of its receptor (VDR) with unexplained recurrent spontaneous abortion (URSA).

Methods: Ninety URSA patients and another 104 healthy pregnant women were selected as URSA and control groups, respectively. 25-Hydroxyvitamin D [25-(OH)D] level was detected by chemiluminescence. VDR gene Fok I polymorphism was analyzed by PCR, and the distribution of genotype frequency was calculated by Hardy-Weinberg equilibrium test. Association between Fok I polymorphism and susceptibility to URSA was investigated by logistic regression analysis.

Results: Gestational age, uterine height, waist circumference, 25-(OH)D level and proportions of Fok I FF and Ff genotypes were significantly lower in the URSA group (P<0.05). Compared with ff genotype, risk of URSA reduced for Ff and FF genotypes. Compared with allele f, risk of URSA was lower for allele F. 25-(OH)D level of ff genotype was significantly lower in the URSA group, which was lower than that of FF genotype (P<0.05). Compared with women with 25-(OH)D level >30 ng/mL and F allele (FF+Ff), the risk of URSA increased 2.45-, 2.43- and 5.34-fold for those with 25-(OH)D level >30 ng/mL and ff genotype, with 25-(OH)D level ≤30 ng/mL, and with ff genotype and 25-(OH)D level ≤30 ng/mL, respectively.

Conclusions: The 25-(OH)D level of the URSA group was significantly lower than that of normal pregnant women. Probably, VDR gene Fok I polymorphism is associated with URSA occurrence, and allele F decreases the risk. The risk of URSA dramatically increases in women with ff genotype and 25-(OH)D deficiency.

Palabras clave

  • vitamin D
  • receptor gene
  • polymorphism
  • recurrent spontaneous abortion
Acceso abierto

Expression of serum soluble Klotho protein in patients with renal damage induced by anti-neutrophil cytoplasmic antibody-associated small-vessel vasculitis and influence on prognosis

Publicado en línea: 18 Jul 2022
Páginas: 305 - 314

Resumen

Abstract

Background: Anti-neutrophil cytoplasmic antibody-associated small-vessel vasculitis (AASV) is an autoimmune disease with unclear pathogenesis, which causes damage to multiple organs and systems, renal failure or even death. We aimed to explore the expression of serum soluble Klotho protein in patients with AASV-induced renal damage and influence on prognosis.

Methods: A total of 330 AASV patients treated from June 2012 to June 2014 were divided into renal damage and non-renal damage groups. Clinical symptoms and laboratory examination results were compared. They were divided into Klotho <935.05 pg/mL and ≥935.05 pg/mL groups, and renal damage and pathological indices were compared. Survival curves were plotted using Kaplan-Meier method, and 5-year and renal survival rates were compared.

Results: Compared with the non-renal damage group, the mean arterial pressure, urine protein and blood creatinine levels significantly rose, while the red blood cell count, hemoglobin, serum albumin, and Klotho protein levels declined in the renal damage group (P<0.05). The optimal cut-off value of Klotho protein in assessing renal damage was 935.05 pg/mL. Compared with Klotho ≥935.05 pg/mL group, the levels of blood creatinine and urine protein significantly increased, and the proportion of normal glomeruli decreased, while that of fibrous crescents rose in Klotho <935.05 pg/mL group (P<0.05). The 5-year renal survival rate was significantly lower in Klotho <935.05 pg/mL group than that in Klotho ≥935.05 pg/mL group (P<0.05).

Conclusions: Klotho protein is lowly expressed in patients with renal damage induced by AASV as a potential marker for early diagnosis and prognostic evaluation.

Palabras clave

  • Klotho protein
  • anti-neutrophil cytoplasmic antibody
  • small-vessel vasculitis
  • renal damage
  • prognosis
Acceso abierto

Carbapenem resistance determinants in Klebsiella pneumoniae strains isolated from blood cultures-comparative analysis of molecular and phenotypic methods

Publicado en línea: 18 Jul 2022
Páginas: 315 - 326

Resumen

Abstract

Introduction: This study provides data on carbapenemases identified in carbapenem-resistant Klebsiella pneumoniae (CR-KP) isolated from blood-cultures by the multiplex molecular method.

Material and method: Between October 2016 and September 2017, 47 non-duplicate Klebsiella pneumoniae (KP) were isolated from blood cultures, from hospitalized patients in the Regional Institute of Gastroenterology and Hepathology, Cluj-Napoca, Romania. Identification and antimicrobial susceptibility tests (AST) were performed by Vitek 2 Compact. The combination disks test (CDT) was used for phenotypic analysis and the LightCycler® Multiplex DNA assay was used to detect and identify the carbapenemases by the LightCycler®z 480 Instrument. The following targets were chosen: blaKPC, blaNDM, blaGES, blaIMP and blaOXA-48 genes and the Cobas® 4800 software variant 2.2.0 was used for the results interpretation.

Results: Taking into consideration the meropenem minimum inhibitory concentration (MIC), 29 KP were susceptible and 18 were not-susceptible (MIC≥0.5 µg ml-1). In the CR-KP group, the CDT identified OXA-48 (10/18) and KPC (7/18) producers. One isolate showed a noninterpretable profile. The multiplex molecular analyses confirmed the carbapenemases production as: 9 CR-KP were KPC and OXA-48 co-producers, 8 were OXA-48 and one was KPC producing strains. In CR-KP group, we found a significant correlation between the CDT and RT-PCR tests results, concerning KPC (p = 0.671). Eight phenotypic results were confirmed by molecular Light-Cycler® Multiplex DNA assay. For CR-KP co-producers (KPC and OXA-48), the CDT could indicate only one carbapenem-hydrolyzing enzyme.

Conclusion: This study highlights the CR-KP co-producers (OXA-48 and KPC). OXA-48-like is more frequently encountered in our area than other carbapenemases.

Palabras clave

  • carbapenem resistance (CR)
  • real-time polymerase chain reaction (RT-PCR)
  • carbapenem-resistant Klebsiella pneumoniae (CR-KP)
Acceso abierto

Antibacterial Activity of Clove, Oregano, Thyme, Eucalyptus, and Tea Tree Essential Oils against Escherichia coli and Klebsiella pneumoniae strains

Publicado en línea: 18 Jul 2022
Páginas: 327 - 338

Resumen

Abstract

Background: In view of the high recurrence rate of urinary tract infections and the increasing number of germs resistant to multiple antibiotics, the aim of the present study was to evaluate the antibacterial properties of clove, oregano, thyme, eucalyptus, tea tree essential oils (EOs) against 32 isolates of Escherichia coli and 28 isolates of Klebsiella pneumoniae from patients with urinary tract infections (UTI).

Methods: The agar disk diffusion method was used to assess the susceptibility of these isolates to essential oils and the minimal inhibitory concentration (MIC), and the minimal bactericidal concentration (MBC) were determined.

Results: Our results suggest that volatile phenols (such as carvacrol in oregano EO, thymol in thyme EO, and eugenol in clove EO) are more efficacious as antibacterial than non-aromatic compounds (such as eucalyptol in eucalyptus EO and terpinene derivatives in tea tree EO).

Conclusion : The oregano EO, followed by thyme appear to have the highest efficacy against Escherichia coli and Klebsiella pneumoniae isolates investigated.

Palabras clave

  • Escherichia coli
  • essential oils
  • urinary tract infections
  • Klebsiella pneumoniae
Acceso abierto

Elbow Septic Arthritis caused by Klebsiella pneumoniae in a Newborn - Case Report and Literature Review

Publicado en línea: 18 Jul 2022
Páginas: 339 - 344

Resumen

Abstract

Septic arthritis is a rare condition in children, especially in neonates. Early recognition and proper treatment are required to avoid serious complications. We present the case of a male newborn diagnosed with septic arthritis of the right elbow who was treated with repeated joint aspiration and i.v. antibiotics (Amikacin and Meropenem). Blood culture and joint cultures were positive for Klebsiella pneumoniae. The final outcome was good, with no apparent local or systemic complications. General considerations regarding this rare condition, etiology and treatment options are also included in the paper.

Palabras clave

  • septic arthritis
  • elbow arthritis
  • newborn
  • aspiration
  • K. pneumoniae
Acceso abierto

Novel DCX pathogenic variant in a girl with subcortical band heterotopia

Publicado en línea: 18 Jul 2022
Páginas: 345 - 352

Resumen

Abstract

Subcortical band heterotopia (SBH), is a brain malformation defined by symmetrical and bilateral heterotopic gray matter bands localized deep within the white matter, between the cortex and lateral ventricles. SBH is the result of abnormal neuronal migration, with improper positioning of the cortical neurons. DCX gene (doublecortin), a microtubule-associated protein with essential roles in neuronal migration and differentiation during brain development, is one of the main contributors to the X-linked Lissencephaly spectrum pathogenesis (OMIM #300067). DCX variants are responsible for SBH in females and isolated lissencephaly in males. Herein, we present a 7-year-old girl with a de novo frameshift variant in DCX gene, unreported by date. The patient has focal complex seizures with onset at 23 months of age, fully controlled with medication, mild tremor and coordination impairment of fine movements and some learning difficulties, otherwise with normal development. The brain magnetic resonance imaging revealed the presence of thick SBH. Direct sequencing of DCX gene revealed a pathogenic heterozygous cytosine duplication in exon 3; this frameshift variant leads to a premature stop codon in position 164 (p.Gln160Profs*5). The variant type and its predicted consequence at protein level correlates with the severity of radiological findings. The clinical presentation of our patient is, however, milder than expected. Our research expands the mutational spectrum of DCX gene in SBH females and provides a detailed clinical and imagistic description of the patient. This paper highlights the utility of single gene sequencing as a first-tier diagnostic test of patients with gene-specific phenotypic features.

Palabras clave

  • Sanger sequencing
  • seizures
  • band heterotopia
  • brain magnetic resonance
  • abnormal cortical development

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