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Multisubunit RNA polymerases (RNAPs) associate with initiation factors (σ in bacteria) to start transcription. The σ factors are responsible for recognizing and unwinding promoter DNA in all bacterial RNAPs. Here, we report two cryo-EM structures of cyanobacterial transcription initiation complexes at near-atomic resolutions. The structures show that cyanobacterial RNAP forms an "SI3-σ" arch interaction between domain 2 of σA (σ2) and sequence insertion 3 (SI3) in the mobile catalytic domain Trigger Loop (TL). The "SI3-σ" arch facilitates transcription initiation from promoters of different classes through sealing the main cleft and thereby stabilizing the RNAP-promoter DNA open complex. Disruption of the "SI3-σ" arch disturbs cyanobacteria growth and stress response. Our study reports the structure of cyanobacterial RNAP and a unique mechanism for its transcription initiation. Our data suggest functional plasticity of SI3 and provide the foundation for further research into cyanobacterial and chloroplast transcription.
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Cianobacterias , Escherichia coli , Escherichia coli/genética , Mutagénesis Insercional , Modelos Moleculares , ARN Polimerasas Dirigidas por ADN/metabolismo , Factor sigma/genética , Factor sigma/química , ADN , Cianobacterias/genética , Cianobacterias/metabolismo , Transcripción GenéticaRESUMEN
Dilated cardiomyopathy (DCM) represents a group of disorders affecting the structure and function of the heart muscle, leading to a high risk of heart failure and sudden cardiac death (SCD). DCM frequently involves an underlying genetic etiology. Genetic testing is valuable for risk stratification, treatment decisions, and family screening. Romanian population data on the genetic etiology of DCM are lacking. We aimed to investigate the genetic causes for DCM among Romanian adult patients at tertiary referral centers across the country. Clinical and genetic investigations were performed on adult patients presenting to tertiary hospitals in Romania. The genetic investigations used next-generation sequencing panels of disease-associated DCM genes. A total of 122 patients with DCM underwent genetic testing. The mean age at DCM diagnosis was 41.6 ± 12.4 years. The genetic investigations identified pathogenic or likely pathogenic variants in 50.8% of participants, while 25.4% had variants of unknown significance. Disease-causing variants in 15 genes were identified in people with DCM, with 31 previously unreported variants. Variants in TTN, LMNA, and DSP explained 75% of genetic causes for DCM. In total, 52.4% of patients had a family history of DCM/SCD. Left ventricular ejection fraction of <35% was observed in 41.9% of patients with disease-causing variants and 55% with negative or uncertain findings. Further genotype-phenotype correlations were explored in this study population. The substantial percentage (50.8%) of disease-causing variants identified in patients with DCM acknowledges the importance of genetic investigations. This study highlights the genetic landscape in genes associated with DCM in the Romanian population.
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Cardiomiopatía Dilatada , Adulto , Humanos , Persona de Mediana Edad , Rumanía , Volumen Sistólico , Función Ventricular Izquierda , Etnicidad , Muerte Súbita CardíacaRESUMEN
Background and Objectives: Nucleotide delivery has emerged as a noteworthy research trend in recent years because of its potential utility in addressing a range of genetic defects resulting in the presence of incorrect nucleotides. The primary goals of this research were to create and to characterize polyurethane microstructures, with the aim of utilizing them for nucleotide transport. Materials and Methods: Two samples were prepared using an aliphatic diisocyanate in reaction with a mixture of polyethylene glycol and polycaprolactone diol, where 2'-deoxycytidinic acid was used as the active agent and glycerol 1,2-diacetate was used as an enhancer of the aqueous solubility. The solubility, pH, size distribution, and surface charge of the samples were measured, and encapsulation efficacy and release, cell proliferation, and irritation tests on mouse skin were conducted. Results: The results showed almost neutral acidic-basic structures with a high heterogeneity, and a medium tendency to form clusters with non-cytotoxic and non-irritative potentials. Conclusions: Future research could explore the efficacy of this carrier in delivering other nucleotides, as well as investigating the long-term effects and safety of these microstructures in vivo.
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Portadores de Fármacos , Poliuretanos , Animales , Ratones , Portadores de Fármacos/química , Poliuretanos/química , Polietilenglicoles , Solubilidad , NucleótidosRESUMEN
Background: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low. Aim: The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies: hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. Materials and Methods: For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts. Results: Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies. Conclusions: Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment.
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Cardiomiopatías , Humanos , Cardiomiopatías/genética , Cardiomiopatías/diagnóstico , Pruebas Genéticas/métodos , Genotipo , FenotipoRESUMEN
BACKGROUND: High empathy levels in health professionals represent an important factor in patient satisfaction and compliance, reducing patient anxiety and pain, enhancing diagnostic and clinical results and strengthening patient empowerment. Our purpose was to determine empathy level and to identify which of the socioeconomic status (SES) and psychological factors were able to predict highest empathy levels in a Romanian sample of community nurses. METHODS: Community nurses were invited in January-February 2023 to provide an answer to an online survey, using an advertisement in a professional network. 1580 participants voluntarily agreed to take part in this study, with a response rate of 85.8%. The survey included the Toronto Empathy Questionnaire, the Reading the Mind in the Eyes Test and socio-economic status items. A multivariate model for the prediction of belonging to the highest quartile of empathy as opposed to lowest quartile was constructed using SES and psychological variables as factors. RESULTS: The mean (SD) empathy level was 49.1 (6.7), with 74.7% of participants over the threshold of high empathy level. In the multivariate analysis, predictors of belonging to the highest quartile of TEQ, as opposed to the lowest quartile were: low self-perceived stress level (OR = 2.098, 95%CI 1.362-3.231), higher experience as a community nurse (OR = 1.561, 95%CI 1.120-2.175) and higher levels of the theory of mind (OR = 1.158, 95%CI 1.118-1.199), when controlling for gender, age, relationship status, presence of children in families, education, and income. CONCLUSIONS: Training programs targeting to increase emotional competences, reduce levels of stress and encourage personnel retention have the potential to increase the quality of community nursing in Romania.
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Even though since the beginning of the COVID-19 pandemic, the literature became more and more abundant on data and hypotheses about the various consequences on people's lives, more clarity needs to be added to the existing information. Besides the stressful experiences related to the COVID-19 pandemic, SARS-CoV-2 infection has been proven to impact brain functioning through direct and indirect pathogenic mechanisms. In this context, we report a case of a patient presenting with a first episode of psychosis following COVID-19. In our case, a 28-year-old male patient with no personal or family psychiatric history developed psychotic symptoms (delusions, hallucinations, and disorganized behaviour) that required antipsychotic treatment and inpatient hospitalization one week after he was discharged from the hospital after COVID-19. At the six-month and one-year follow-up, the patient was in remission without any psychotic signs or symptoms. A brief review of the literature is also provided. The case presented in this article outlines the possibility that the post-COVD-19 recovery period might be a crucial time for the onset of acute psychotic disorder, and therefore, routine psychiatric assessments should be carried out during all phases of the disease. A clearer picture of the impact of the COVID-19 pandemic on mental health will most likely be revealed in the future as many consequences need long-term evaluation.
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COVID-19 , Trastornos Psicóticos , Masculino , Humanos , Adulto , COVID-19/complicaciones , Pandemias , SARS-CoV-2 , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/etiología , Trastornos Psicóticos/psicología , AlucinacionesRESUMEN
Pathogenic variants in BRCA1 gene in heterozygous state are known to be associated with breast-ovarian cancer susceptibility; however, biallelic variants cause a phenotype recognised as Fanconi anaemia complementation group S. Due to its rarity, medical management and preventive screening measures are insufficiently understood. Here, we present nine individuals (one new and eight previously presented) with biallelic variants in BRCA1 gene, to delineate clinical features in comparison with other chromosome instability syndromes and understand the patients' health risk. Features seen in these 9 individuals (7 females/2 males) include prenatal and postnatal growth failure (9/9), microcephaly (9/9), hypo/hyperpigmented lesions (9/9), facial dysmorphism (9/9), mild developmental delay (8/9) and early-onset solid tumours (5/9). None presented bone marrow failure or immunodeficiency. Individuals with biallelic variants in BRCA1 also showed chromosomal instability by mitomycin and diepoxybutane test. The phenotype caused by biallelic BRCA1 variants is best framed between Fanconi anaemia and Nijmegen syndrome, yet distinct due to lack of bone marrow failure and immunodeficiency. We hypothesise that disease class should be reframed and medical management in people with biallelic variants in BRCA1 should emphasise on detection of solid tumour development and avoiding exposure to ionising radiation.
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Proteína BRCA1/genética , Trastornos por Deficiencias en la Reparación del ADN/diagnóstico , Trastornos por Deficiencias en la Reparación del ADN/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Mutación , Fenotipo , Alelos , Biomarcadores , Estudios de Asociación Genética/métodos , Humanos , Masculino , Linaje , Evaluación de SíntomasRESUMEN
Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of porencephalic cavities: congenital and acquired. Porencephaly is mainly associated with neurological and developmental consequences. Associated psychotic symptoms were reported in a few cases, and due to this fact, there is a knowledge gap regarding the diagnostic and therapeutic approach to such cases. We present the case of a 32-year-old male diagnosed with a psychotic disorder associated with acquired porencephaly. The porencephalic cystic lesions were most probably due to a traumatic brain injury at the age of 6 years old. The psychotic symptomatology consisted of interoceptive/visceral hallucinations, delusions with persecutory and religious/magic content and disorganised behaviour. The porencephalic cavity was confirmed by a computed tomography scan. The patient was treated over the course of time with risperidone, olanzapine and zuclopenthixol. The existing literature regarding other cases of psychosis associated with porencephaly is discussed. In conclusion, even though porencephaly was asymptomatic for a long period of time, we argue that there is a causal relationship between the chronic psychotic symptoms and the porencephalic cyst in our case.
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Encefalopatías , Porencefalia , Trastornos Psicóticos , Adulto , Encéfalo/anomalías , Niño , Humanos , Hallazgos Incidentales , Masculino , Trastornos Psicóticos/etiologíaRESUMEN
BACKGROUND: In forensic genetics, mutation analysis for different short tandem repeat (STR) loci is important for paternity and maternity testing. The aim of this study is determining the most frequent loci with mutations in a population of 743 individuals in western Romania in 246 kinship cases. These include 240 paternity and 6 maternity tests analyzed at the Laboratory of Forensic Genetics, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania. The study was conducted between January 1, 2017, to January 1, 2020. The study aims to analyze the mutation rates for 15 autosomal markers used in this type of testing. The following loci were included in our study: D3S1358, D8S1179, D18S51, D21S11, FGA, TH01, vWA, CSF1PO, D7S820, D13S317, D16S539, D2S1338, D19S433, TPOX, D5S818. METHODS: For the reference samples, we used saliva collected on buccal swabs from all individuals. Salivary DNA was quantified on the 7500 real-time PCR equipment (Thermo Scientific, USA). Further, amplification of the DNA samples was performed on a ProFlex PCR System (Thermo Scientific, USA) using Identifiler Plus PCR Am-plification kit (Thermo Scientific, USA). Fragment analysis was performed on the 3500 Genetic Analyzer (Thermo Scientific, USA). The genetic profiles were generated by GeneMapper ID-X software version 1.4 (Thermo Scientific, USA). RESULTS: The mutation events in paternity testing were observed in 10 out of the 15 analyzed loci: D21S11, D18S51, D16S539, D8S1179, FGA, D2S441, D19S433, D2S1338, D3S1358, D5S818 and vWA. Paternal mutations were more frequent (63%) than maternal mutations (37%). CONCLUSIONS: The results confirm that the mutation rate in paternity tests are more frequent during paternal meiosis compared to maternal.
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Genética de Población , Paternidad , Dermatoglifia del ADN , Femenino , Frecuencia de los Genes , Humanos , Repeticiones de Microsatélite , Mutación , Embarazo , RumaníaRESUMEN
Tuberculosis (TB) is recognised as one of the most pressing global health threats among infectious diseases. Bacteriophages are adapted for killing of their host, and they were exploited in antibacterial therapy already before the discovery of antibiotics. Antibiotics as broadly active drugs overshadowed phage therapy for a long time. However, owing to the rapid spread of antibiotic resistance and the increasing complexity of treatment of drug-resistant TB, mycobacteriophages are being studied for their antimicrobial potential. Besides phage therapy, which is the administration of live phages to infected patients, the development of drugs of phage origin is gaining interest. This path of medical research might provide us with a new pool of previously undiscovered inhibition mechanisms and molecular interactions which are also of interest in basic research of cellular processes, such as transcription. The current state of research on mycobacteriophage-derived anti-TB treatment is reviewed in comparison with inhibitors from other phages, and with focus on transcription as the host target process.
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Antibacterianos/farmacología , Micobacteriófagos/metabolismo , Tuberculosis/terapia , Proteínas Virales/farmacología , Antibacterianos/uso terapéutico , Humanos , Mycobacterium tuberculosis/virología , Transcripción Genética , Proteínas Virales/uso terapéuticoRESUMEN
BACKGROUND: Genetic markers are routinely used in human identification of paternity, maternity, and kinship cases. We describe a DNA paternity case with one mismatch on SE33 locus between the alleged father (AF) and the child (daughter). Because there was a father-daughter relationship to solve this case we used chromosome X-STRs markers too. METHODS: As reference samples we used saliva collected from inside the cheek of each person using buccal swabs (Copan, Italy). The DNA samples were quantified on a 7500 ABI real-time PCR using the Investigator Quantiplex Pro Kit (Qiagen, Germany). Salivary DNA samples were amplified on a ProFlex PCR System (ThermoFischer, USA) using the multiplex STR markers from the AmpF/STR® NGM Select PCR Amplification Kit (Thermo-Fischer, USA) and Investigator® Argus X-12 QS kit markers (Qiagen, Germany). PCR products were run on capillary electrophoresis on an ABI 3500 Genetic Analyzer (ThermoFischer, USA). RESULTS: The AF was excluded from paternity on STRs markers due to one mismatch on SE33 locus. To confirm or exclude the paternity, we used the chromosome X-STRs markers, obtaining a perfect match between the AF and his daughter. CONCLUSIONS: In paternity testing, where one or two mismatches are present between the child (daughter) and the AF on different loci on STR markers, the use of chromosome X-STRs is needed for the confirmation or exclusion of paternity.
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Cromosomas Humanos X/genética , Padre , Sitios Genéticos/genética , Repeticiones de Microsatélite/genética , Núcleo Familiar , Paternidad , Niño , ADN/genética , Femenino , Genética Forense/métodos , Humanos , Masculino , Mutación , Saliva/metabolismoRESUMEN
Few high-performance liquid chromatographyâ»tandem mass spectrometry (LC-MS/MS) methods have been developed for the full quantitation of fatty acids from human plasma without derivatization. Therefore, we propose a method that requires fewer sample preparation steps, which can be used for the quantitation of several polyunsaturated fatty acids in human plasma. The method offers rapid, accurate, sensitive, and simultaneous quantification of omega 3 (α-linolenic, eicosapentaenoic, and docosahexaenoic acids) and omega 6 fatty acids (arachidonic and linoleic acids) using high-performance LC-MS/MS. The selected fatty acids were analysed in lipid extracts from both free and total forms. Chromatographic separation was achieved using a reversed phase C18 column with isocratic flow using ammonium acetate for improving negative electrospray ionization (ESI) response. Mass detection was performed in multiple reaction monitoring (MRM) mode, and deuterated internal standards were used for each target compound. The limits of quantification were situated in the low nanomolar range, excepting linoleic acid, for which the limit was in the high nanomolar range. The method was validated according to the U.S. Department of Health and Human Services guidelines, and offers a fast, sensitive, and reliable quantification of selected omega 3 and 6 fatty acids in human plasma.
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Bioensayo/métodos , Ácidos Grasos Omega-3/sangre , Ácidos Grasos Omega-6/sangre , Cromatografía Líquida de Alta Presión/métodos , Ácidos Grasos Omega-3/metabolismo , Ácidos Grasos Omega-6/metabolismo , Humanos , Límite de Detección , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Espectrometría de Masa por Ionización de Electrospray/métodos , Espectrometría de Masas en Tándem/métodosRESUMEN
BACKGROUND: Genetic information is used very frequently in human identification in civil or judicial cases. Establishing the kinship relationship between a child and his biological father involves many ethical facts. We describe a DNA paternity case with two alleged fathers and an inconsistency between alleged father-2 and the child at D3S1358 locus. METHODS: As biological samples we used saliva collected from inside the cheek of each person using buccal swabs (Copan, Italy). We collected the biological samples from each of person after each person gave the consent. In order to find the concentration of salivary DNA, the DNA samples were quantified by 7500 ABI Real-time PCR using the Quantifiler Human DNA kit (Applied Biosystems, USA). The next step was the amplification of the Salivary DNA samples by polymerase chain reaction (PCR). It was performed on a ProFlex PCR System (Applied Biosystems, USA) using the multiplex STR markers from the AmpFlSTR® Identifiler Plus Amplification Kit (Applied Biosystems, USA). After amplification, the PCR products were run on capillary electrophoresis on an ABI 3500 Genetic Analyzer (Applied Biosystems, USA). RESULTS: AF-1 was excluded as biological father. The DNA profiles of AF-2 and the child had one mismatch at D3S1358 locus. Further, we amplified the Y-STR markers to confirm the mutation, obtaining a perfect match between the 2 persons. CONCLUSIONS: In paternity testing, where one or two inconsistencies are present between the child and the alleged father on autosomal STR markers, the use of haploid markers X-STR or Y-STRs is needed for the confirmation or exclusion of paternity.
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Análisis Mutacional de ADN , Mutación , Paternidad , Cromosomas Humanos X , Cromosomas Humanos Y , Marcadores Genéticos , Herencia , Humanos , Masculino , Reacción en Cadena de la Polimerasa Multiplex , Linaje , Valor Predictivo de las Pruebas , Reacción en Cadena en Tiempo Real de la Polimerasa , Saliva/químicaRESUMEN
INTRODUCTION: the majority of studies of acute gastrointestinal bleeding in children are retrospective, focusing on therapeutic endoscopy. Previous studies performed in adult patients have demonstrated that both scheduled second look endoscopy and high dose continuous omeprazole infusion are effective in the prevention of peptic ulcer rebleeding. The aim of this study was to compare the efficacy of these two strategies using esomeprazole for the prevention of rebleeding following primary endoscopic hemostasis in children with peptic ulcers. The main outcome was to assess the rebleeding rate within 30 days after the initial hemostasis. METHODS: consecutive pediatric cases who underwent endoscopic treatment for bleeding peptic ulcers were randomized into two treatment groups following hemostasis. The first group received esomeprazole as an intravenous bolus every 12 hours for 72 hours and a routine second look endoscopy within 12-24 hours with endotherapy retreatment in the case of a persistent stigmata of bleeding. The second group received a continuous high dose esomeprazole infusion for 72 hours without endoscopic reassessment unless required due to rebleeding. RESULTS: a total of 63 children were randomized to the second look endoscopy group and 64 to the esomeprazole infusion group. Rebleeding occurred within 30 days in four patients (6.3%) in the first group and in three patients (4.6%) in the second group (p = 0.7). CONCLUSIONS: a pharmaceutical approach using a high dose continuous esomeprazole infusion in children after an initial endoscopic hemostasis has a similar efficacy compared to second look endoscopy and bolus esomeprazole administration for the prevention of peptic ulcer rebleeding. Thus, the discomfort of a second endoscopy in children can be avoided and is only recommended for selected high risk cases.
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Antiulcerosos/administración & dosificación , Esomeprazol/administración & dosificación , Úlcera Péptica Hemorrágica/prevención & control , Prevención Secundaria/métodos , Antiulcerosos/uso terapéutico , Niño , Esquema de Medicación , Esomeprazol/uso terapéutico , Femenino , Hemostasis Endoscópica , Humanos , Infusiones Intravenosas , Inyecciones Intravenosas , Masculino , Úlcera Péptica Hemorrágica/terapia , Estudios Prospectivos , Recurrencia , Resultado del TratamientoRESUMEN
Worldwide, oral cancers represent the 6th most common type of cancer. Oral squamous cell carcinoma (OSCC), which is the most common type of oral cancer, is present in about 90% of the patients with this malignancy. OSCC presents a survival rate up to 80%, if it is detected in an early stage (T1), but if detected at later stages (T3 - T4) the survival rate decreases to 20 - 30%. Due to these survival rates, it is obvious that there is an urgent need to introduce new molecular biomarkers for the early, noninvasive diagnosis of oral cancers from saliva. These biomarkers will aid in increasing the survival rate of the patients for the long-term. MicroRNAs are part of a class of small, non-coding RNAs that contain 19 - 23 nucleotides. MicroRNAs play an important role in the regulation of biochemical mechanisms, cell proliferation, and other cellular mechanisms in the human body. Recently, due to the developments in the field of molecular genetics, salivary microRNAs became important biomarkers in early detection and monitoring of oral cancers by noninvasive methods. We want to present in this review the most important genetic and epigenetic biomarkers involved in oral carcinogenesis, focusing especially on the salivary microRNAs as biomarkers in early diagnosis of OSCC.
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Biomarcadores de Tumor/metabolismo , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/genética , Epigénesis Genética , MicroARNs/metabolismo , Neoplasias de la Boca/diagnóstico , Neoplasias de la Boca/genética , Carcinogénesis , Inhibidor p16 de la Quinasa Dependiente de Ciclina , Ciclinas/metabolismo , Genómica , Humanos , Metaloproteinasas de la Matriz/metabolismo , Proteínas de Neoplasias/genética , Receptor ErbB-2/genética , Proteína de Retinoblastoma/genética , Resultado del Tratamiento , Proteína p53 Supresora de Tumor/genéticaRESUMEN
BACKGROUND: Prostate cancer (PCa) represents the most commonly diagnosed type of malignancy among men in Western European countries and the second cause of cancer-related deaths among men worldwide. Methylation of the CpG island has an important role in prostate carcinogenesis and progression. The purpose of the study was to analyse the diagnostic value of aberrant promoter hypermethylation of the gene for glutathione S-transferase P1 (GSTP1) in plasma DNA to discriminate between prostate cancer (PCa) and benign prostatic hyperplasia (BPH) patients by minimally invasive methods. METHODS: Aberrant promoter hypermethylation was investigated in DNA isolated from plasma samples of 31 patients with diagnostic of PCa and 44 cancer-free males (control subjects). Extracted genomic DNA was bisulfite treated and analyzed using methylation-specific polymerase chain reaction (MS-PCR) technique. RESULTS: Hypermethylation of the GSTP1 gene was detected in plasma samples from 27 of 31 (92.86%) patients with PCa. Genomic DNA from plasma samples from the 44 controls without genitourinary cancer revealed promoter hypermethylation of GSTP1 gene in 3 (10.6%) of the 44 patients. Receiver operating curve (ROC) included clinico-pathological parameters such as: serum PSA levels, pathological stage, Gleason score, hypermethylation status of GSTP1 gene, and it gave a predictive accuracy of 93% with a sensitivity and specificity of 95% and 87%, respectively. CONCLUSIONS: In this study, we have evaluated the ability of GSTP1 gene to discriminate between PCa and BPH patients in genomic DNA from plasma samples by non-invasive methods.
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Biomarcadores de Tumor/sangre , Metilación de ADN , Gutatión-S-Transferasa pi/genética , Hiperplasia Prostática/sangre , Neoplasias de la Próstata/sangre , Adulto , Anciano , Estudios de Casos y Controles , Humanos , Masculino , Persona de Mediana Edad , Próstata/enzimología , Próstata/patología , Hiperplasia Prostática/enzimología , Neoplasias de la Próstata/enzimología , Neoplasias de la Próstata/patologíaRESUMEN
Introduction: Lifestyle factors, including inadequate eating patterns, emerge as a critical determinant of chronic disease. Apart from caring for patients, nurses should also take an active role in monitoring and managing their own health. Understanding the intricate relationship between nurses' eating behavior and managing their own health is crucial for fostering a holistic approach to healthcare, therefore our study aimed to evaluate eating behavior and demographic factors influencing chronic disease prevalence in a sample of community nurses from Romania. Methods: Between October-November 2023, 1920 community nurses were invited to answer an online survey, using an advertisement in their professional network. Of them, 788 responded. In the survey, which included a semi-quantitative food frequency questionnaire with 53 food items, the Intuitive Eating Survey 2 (IES-2), and demographic items were used. Results: A multivariate model was built for the prediction of the association between eating behavior and other factors associated with chronic diseases. The majority of participants were females (95.1%), with the largest age group falling between 40 and 49.9 years (48.2%). Regarding the EFSA criteria for adequate carbohydrate and fat intake, 20.2% of the group have a high intake of carbohydrates, respectively, 43.4% of the group have a high intake of fat. Analysis of chronic diseases indicated that 24.9% of individuals reported at least one diagnosis by a physician. The presence of chronic disease was associated with a low level of perceived health status, with an OR = 3.388, 95%CI (1.684-6.814), compared to those reporting excellent or very good perceived health status. High stress had an OR = 1.483, 95%CI (1.033-2.129). BMI had an OR = 1.069, 95%CI (1.032-1.108), while low carbohydrate diet score had an OR = 0.956, 95%CI (0.920-0.992). Gender and IES-2 did not significantly contribute to the model, but their effect was controlled. Discussion: By unraveling the intricate interplay between nutrition, lifestyle, and health outcomes in this healthcare cohort, our findings contribute valuable insights for the development of targeted interventions and support programs tailored to enhance the well-being of community nurses and, by extension, the patients they support.
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Conducta Alimentaria , Estilo de Vida , Femenino , Humanos , Adulto , Persona de Mediana Edad , Masculino , Rumanía/epidemiología , Encuestas y Cuestionarios , Enfermedad CrónicaRESUMEN
BACKGROUND: The plasma level of antipsychotics and their metabolites depends on the activity of the cytochrome P450 (CYP) system in the liver. This research aims to test the individual response variability to atypical antipsychotic drugs, depending on the activity of the CYP2D6 enzyme. METHODS: In a prospective, noninterventional study, we included 56 adolescents, 51.79% male, diagnosed with schizophrenia. The patients underwent DNA sampling for genotyping SNP by RT-PCR and CYP* allelic variants using Applied Bio-systems™ TaqMan® Assays Foster City, CA, USA). and clinical and paraclinical assessments. The effectiveness of the therapy was evaluated with the PANSS scores at baseline and 3, 6, and 12 months after the initiation of an atypical antipsychotic treatment. RESULTS: Based on the genotyping results, the patients were divided into slow metabolizers (Group 1), extensive metabolizers (Group 2), and intermediate metabolizers (Group 3). The PANSS score showed a significant decrease in Group 2, compared to Group 3 after 3 (p = 0.02), 6 (p = 0.0009), and 12 months (p < 0.0001). The patients in Group 1 showed high PANSS scores, and those in Group 2 had fewer adverse reactions than the other groups. CONCLUSIONS: Assessing the CYP2D6 polymorphism may be useful in clinical pediatric psychiatric practice towards improving clinical results and patients' quality of life.
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AIM: To describe the current prevalence of paediatric hypertension and the relationships between body mass index, gender, place of residence, and blood pressure in a population of school-aged children from western Romania. MATERIAL AND METHOD: A total of 3626 children from Timisoara and the surrounding regions were examined by medical students from February, 2010 to June, 2011. Children's body mass index was interpreted on the basis of reference guidelines from Centers for Disease Control and Prevention. Blood pressure measurements were taken by the auscultation method. For defining elevated blood pressure, we used the standards published in the Fourth Report. RESULTS: Overall, the prevalence of overweight was 14% and 11.8% for obesity. Boys had a higher prevalence of both overweight and obesity compared with girls. The prevalence of hypertension on our screening was 9.1% higher in boys and urban residence. The prevalence of pre-hypertension was 6.5%. With regard to body mass index, 21.1% of obese, 12.8% of overweight, and 7.1% of normal weight children presented hypertension. The strongest determinant of hypertension was body mass index percentile. Significant odds ratio was found for obesity (3.93; confidence interval: 3.114.95), urban residence (1.68; confidence interval: 1.352.1), and male gender (1.34; confidence interval: 1.121.6). CONCLUSIONS: The results confirm a worrisome prevalence of overweight and obesity among children in Romania, accompanied by an alarming prevalence of hypertension. Overweight and obesity, male gender, and urban residence were the major contributing factors for the overall high prevalence of hypertension found. Our results point to the urgent need to adopt strategies aimed at preventing hypertension and obesity in children in Romania.
Asunto(s)
Hipertensión/epidemiología , Obesidad Infantil/epidemiología , Población Rural/estadística & datos numéricos , Población Urbana/estadística & datos numéricos , Adolescente , Índice de Masa Corporal , Niño , Femenino , Humanos , Masculino , Sobrepeso/epidemiología , Prevalencia , Factores de Riesgo , Rumanía/epidemiología , Distribución por SexoRESUMEN
Neonatal diffuse cutaneous mastocytosis (NDCM) is defined as the infiltration of the epidermis by a clonal proliferation of mast cells, observed at birth, without initial signs of systemic involvement. The typical driver mutation is in the KIT gene. We report a rare case of a boy, born at term, already presenting at birth with generalized subcutaneous nodules on the face, scalp, trunk, back, hands, and feet. The spleen, liver, and inflammatory markers were normal at birth. Tryptase was significantly elevated. A bone marrow biopsy showed no mast cell involvement at age 2 months. A punch biopsy at age 2 months revealed CD117-positive cells diffusely infiltrating the skin, with subsequent DNA NGS sequencing for the formalin-fixed paraffin embedded tissue (FFPE) identifying the pathogenic NM_000222.3:c.1504_1509dup; p.(Ala502_Tyr503dup) variant in the KIT gene previously associated with cutaneous mastocytosis. At 2 years follow-up, he had splenomegaly and multiple cervical and inguinal adenopathy, while the skin nodules persisted, especially on the scalp with accompanying pruritus. He received oral and local sodium cromoglycate, oral antihistamines, antibiotic cream for skin infection, and iron supplementation; however, compliance to treatment was relatively low. The prognosis is difficult to predict, as he developed systemic involvement, failure to thrive, and mild psychomotor delay. A case aggregation of NDCM reported in the literature was performed to provide a comprehensive overview of this rare pathology, to better understand the prognosis. NDCM is a life-threatening disease with severe complications. Almost half had severe complications, such as mast hepatosplenomegaly, adenopathy, bacterial infections, mast cell leukaemia, and systemic involvement.