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1.
Nutr Hosp ; 2024 Apr 26.
Artigo em Espanhol | MEDLINE | ID: mdl-38726617

RESUMO

OBJECTIVES: the prevention of central line-associated bloodstream infections is a critical aspect of care for patients with intestinal failure who are treated with parenteral nutrition. The use of taurolidine in this context is becoming increasingly popular, however there is a lack of standardization in its pediatric application. The objective of this work is to develop a guide to support its prescription. METHODOLOGY: the guide is based on a review of the literature and expert opinions from the Intestinal Failure Group of the SEGHNP. It was developed through a survey distributed to all its members, addressing aspects of usual practice with this lock solution. RESULTS: this manuscript presents general recommendations concerning taurolidine indications, commercial presentations, appropriate forms of administration, use in special situations, adverse reactions, and contraindications in the pediatric population Conclusions: taurolidine is emerging as the primary lock solution used to prevent central line-associated bloodstream infections, proving to be safe and effective. This guide aims to optimize and standardize its use in pediatrics.

2.
Front Pediatr ; 12: 1385065, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38633324

RESUMO

Direct Oral Anticoagulants (DOACs) typically exhibit a predictable pharmacokinetic and pharmacodynamic response at a fixed dose, not necessitating monitoring under standard conditions. Yet, in specific clinical scenarios that can impair it, like Congenital Nephrotic Syndrome (CNS) or Short Bowel Syndrome (SBS) due to absorption issues, anti-thrombin III (AT-III) deficiency and non-selective proteinuria, adjusting the dosage to achieve appropriate plasma concentrations could prove beneficial. We report a 3-month-old female with catheter-related jugular thrombosis affected by CNS concomitant to SBS and failure of both treatments with heparin and warfarin, that was switched to dose-adjusted pediatric rivaroxaban. Rivaroxaban was adjusted to reach peak levels between 189 and 419 ng/ml and the lower trough levels between 6 and 87 ng/ml. Increasing doses were needed due to SBS related malabsorption but a complete permeabilization of the vein was achieved without bleeding complications. The use of anti-Xa adjusted rivaroxaban could be an alternative to improve anticoagulation and secondary thromboprophylaxis in pediatric patients SBS and an option to children with CNS.

3.
J Nephrol ; 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38032457

RESUMO

BACKGROUND: Hypercalcemia is highly prevalent in kidney transplant recipients with hyperparathyroidism. However, its long-term impact on graft function is uncertain. METHODS: We conducted a prospective cohort study investigating adverse graft outcomes associated with persistent hypercalcemia (free calcium > 5.2 mg/dL in ≥ 80% of measures) and inappropriately elevated intact parathyroid hormone (> 30 pg/mL) in kidney transplant recipients. Asymptomatic mild hypercalcemia was monitored unless complications developed. RESULTS: We included 385 kidney transplant recipients. During a 4-year (range 1-9) median follow-up time, 62% of kidney transplant recipients presented persistent hypercalcemia. Compared to kidney transplant recipients without hypercalcemia, there were no significant differences in graft dysfunction (10% vs. 12%, p = 0.61), symptomatic urolithiasis (5% vs. 3%, p = 0.43), biopsy-proven calcium deposits (6% vs. 5%, p = 1.0), fractures (6% vs. 4%, p = 0.64), and a composite outcome of urolithiasis, calcium deposits, fractures, and parathyroidectomy indication (16% vs. 13%, p = 0.55). In a subset of 76 kidney transplant recipients, subjects with persistent hypercalcemia had higher urinary calcium (median 84 [43-170] vs. 38 [24-64] mg/day, p = 0.03) and intact fibroblast growth factor 23 (median 36 [24-54] vs. 27 [19-40] pg/mL, p = 0.04), and lower 25-hydroxyvitamin D levels (11.3 ± 1.2 vs. 16.3 ± 1.4 ng/mL, p < 0.001). In multivariate analysis, pretransplant intact parathyroid hormone < 300 pg/mL was associated with a reduced risk of post-transplant hypercalcemia (OR 0.51, 95% CI 0.32-0.80). CONCLUSIONS: Long-term persistent mild hypercalcemia (tertiary hyperparathyroidism) was frequent in kidney transplant recipients in our series. This condition presented with lower phosphate and 25-hydroxyvitamin D, and higher urinary calcium and intact fibroblast growth factor 23 levels compared to kidney transplant recipients without hypercalcemia, resembling a mild form of primary hyperparathyroidism. Despite these metabolic derangements, the risk of adverse graft outcomes was low.

4.
J Pediatr Hematol Oncol ; 45(2): e167-e173, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36730467

RESUMO

B-cell acute lymphoblastic leukemia (B-ALL) is the most common childhood hematological malignancy worldwide. Treatment outcomes have improved dramatically in recent years; despite this, relapse is still a problem, and the potential molecular explanation for this remains an important field of study. We performed microarray and single-cell RNA-Seq data mining, and we selected significant data with a P -value<0.05. We validated BRCA1 gene expression by means of quantitative (reverse transcription-polymerase chain reaction.) We performed statistical analysis and considered a P -value<0.05 significant. We identified the overexpression of breast cancer 1, early onset (BRCA1; P -value=2.52 -134 ), by means of microarray analysis. Moreover, the normal distribution of BRCA1 expression in healthy bone marrow. In addition, we confirmed the increases in BRCA1 expression using real-time (reverse transcription-polymerase chain reaction and determined that it was significantly reduced in patients with relapse ( P -values=0.026). Finally, we identified that the expression of the BRCA1 gene could predict early relapse ( P -values=0.01). We determined that low expression of BRCA1 was associated with B-cell acute lymphoblastic leukemia relapse and could be a potential molecular prognostic marker.


Assuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras B , Humanos , Criança , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Prognóstico , Biomarcadores , Resultado do Tratamento , Recidiva , Proteína BRCA1
5.
Rev Peru Med Exp Salud Publica ; 39(2): 170-177, 2022.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-36477317

RESUMO

OBJECTIVE: To determine the genetic diversity of Aedes aegypti in the Central-Alto Paraná cross-border road corridor of Paraguay, an area that has reports of dengue cases. MATERIALS AND METHODS: Twenty adult females were selected from hatching Ae. aegypti eggs from households geolocated in the departments of Alto Paraná, Caaguazú, Cordillera and Central, between 2018 and 2019. DNA was extracted from the tissue of females for amplifying their polymorphic patterns by random amplification of polymorphic DNA by PCR (RAPD-PCR), using primers H3 and B03 in order to identify genetic parameters of population diversity. The relationships between mosquito populations according to locality were observed by unpaired arithmetic mean analysis. We used DIVA-GIS 7.3.0 and MAXENT to analyze the suitable areas of actual and potential geographic distribution of these Ae. aegypti populations. RESULTS: Forty loci were identified by RAPD-PCR profiling, with moderate gene differentiation (Gst = 0.12). The cross-border corridor presented bioclimatic conditions for the presence of variant populations of Ae. aegypti, with precipitation in the warmest quarter and mean temperature in the driest quarter being determinant in the distribution. CONCLUSIONS: There is evidence of moderate genetic diversity in Ae. aegypti populations from areas that have reported dengue cases in the cross-border road corridor linking the Central and Alto Paraná departments of Paraguay. The study of genetic variability of Ae. aegypti is very useful for entomo-epidemiological surveillance and evaluation of possible resistance to chemical control.


OBJETIVOS: Conocer la diversidad genética de Aedes aegypti en el corredor vial transfronterizo Central-Alto Paraná de Paraguay, con registros de casos de dengue. MATERIALES Y MÉTODOS: Se seleccionaron veinte hembras adultas de la eclosión de huevos de Ae. aegypti procedentes de casas geolocalizadas en los departamentos de Alto Paraná, Caaguazú, Cordillera y Central, entre el 2018 y 2019. Se extrajo ADN del tejido de las hembras para amplificación aleatoria de sus patrones polimórficos mediante amplificación aleatoria del ADN polimórfico por PCR (RAPD-PCR), usando cebadores H3 y B03 a fin de conocer parámetros genéticos de diversidad poblacional. Las relaciones entre las poblaciones de mosquitos según la localidad fueron visualizadas mediante análisis no apareado de la media aritmética. Las áreas idóneas de distribución geográfica real y potencial de estas poblaciones de Ae. aegypti fueron analizadas mediante DIVA-GIS 7.3.0 y MAXENT. RESULTADOS: Se identificaron 40 loci mediante perfiles RAPD-PCR, con diferenciación génica moderada (Gst = 0,12). El corredor transfronterizo presentó condiciones bioclimáticas para la presencia de poblaciones variantes de Ae. aegypti, siendo determinantes en la distribución la precipitación del trimestre más cálido y la temperatura media del trimestre más seco. CONCLUSIONES: Se evidencia que existe diversidad genética moderada en las poblaciones de Ae. aegypti procedentes de zonas con registros de casos de dengue ubicadas en el corredor vial transfronterizo que une los departamentos Central y Alto Paraná de Paraguay. El estudio de variabilidad genética de Ae. aegypti es de gran utilidad para la vigilancia entomoepidemiológica y evaluación de posibles eventos de resistencia al control químico.


Assuntos
Aedes , Animais , Aedes/genética , Técnica de Amplificação ao Acaso de DNA Polimórfico , Paraguai , Variação Genética
6.
Cells ; 11(20)2022 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-36291073

RESUMO

Leukemia is the most common childhood malignancy in Mexico, representing more than 50% of all childhood cancers. Although treatment leads to a survival of up to 90% in developing countries, in our country, it is less than 65%. Additionally, ~30% of patients relapse with poor prognosis. Alternative splicing plays an important role in transcriptome diversity and cellular biology. This mechanism promotes an increase in the assortment of proteins with potentially distinct functions from a single gene. The proliferating cell nuclear antigen (PCNA) gene encodes two transcripts for the same protein of 261 amino acids, which is associated with several important cellular processes and with several types of cancer. However, the diversity of the transcript variants expressed in this condition is not clear. Then, we used microarray gene expression to identify changes in the exon expression level of PCNA. The data were validated using RT-PCR and Sanger sequencing, and three additional transcripts (PCNA_V3, PCNA_V4, and PCNA_V5) were identified. Computational analyses were used to determine the potential proteins resulting, their structure, and interactions with PCNA native protein and themselves. Additionally, the PCNA transcript variants were inhibited using specific siRNA, determining that their inhibition contributes to the malignant characteristics in vitro. Finally, we quantified the PCNA transcript variants in acute lymphoblastic leukemia samples and identified their expression in this disease. Based on the clinical characteristics, we determined that PCNA_V2 and PCNA_V4 are expressed at significantly low levels in relapsed B-ALL patients. We conclude that the low expression of PCNA_V2 and PCNA_V4 could be a potential molecular marker of relapse in acute lymphoblastic leukemia patients.


Assuntos
Linfoma de Burkitt , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Criança , Antígeno Nuclear de Célula em Proliferação/genética , Antígeno Nuclear de Célula em Proliferação/metabolismo , Proteínas Nucleares/metabolismo , RNA Interferente Pequeno , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Recidiva , Biomarcadores , Doença Aguda , Aminoácidos
7.
Obstet Gynecol ; 140(3): 429-438, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35926200

RESUMO

OBJECTIVE: To compare outcomes of women with low-lying placenta by planned mode of delivery and distance from the internal os distance. METHODS: Six tertiary maternity hospitals in France participated in this retrospective multicenter study of births from 2007-2012. Women with low-lying placenta , defined as an internal os distance of 20 mm or less, who gave birth after 35 weeks of gestation were included and classified in the planned trial-of-labor or elective cesarean delivery groups. The primary endpoint was severe postpartum hemorrhage (PPH) defined as blood loss exceeding 1,000 mL. Secondary outcomes were composite variables of severe maternal and neonatal morbidity. We used multivariable logistic regression and propensity scores to compare outcomes by planned mode of delivery. RESULTS: Among 128,233 births during the study period, 171 (0.13%) women had low-lying placenta: 70 (40.9%) in the trial-of-labor group and 101 (59.1%) who underwent elective cesarean delivery. The rate of severe PPH was 22.9% (16/70, 95% CI 13.7-34.4) for the trial-of-labor group and 23.0% (23/101, 95% CI 15.2-32.5) for the cesarean delivery group ( P =.9); severe maternal and neonatal morbidity rates were likewise similar (2.9% vs 2.0% [ P =.7] and 12.9% vs 9.9% [ P =.5], respectively). Trial-of-labor was not significantly associated with a higher rate of severe PPH after multivariable logistic regression and propensity score-weighted analysis (adjusted odds ratio [aOR] 1.42, 95% CI 0.62-3.24 [ P =.4]; and aOR 1.34, 95% CI 0.53-3.38 [ P =.5], respectively). The vaginal delivery rate in the trial-of-labor group was 50.0% (19/38) in those with an internal os distance of 11-20 mm and 18.5% (5/27) in those with a distance of 1-10 mm. CONCLUSION: Our results support a policy of offering a trial of labor to women with low-lying placenta after 35 weeks of gestation and an internal os distance of 11-20 mm. An internal os distance of 1-10 mm reduces the likelihood of vaginal birth considerably, compared with 11-20 mm, but without increasing the incidence of severe PPH or severe maternal morbidity.


Assuntos
Trabalho de Parto , Hemorragia Pós-Parto , Recém-Nascido , Feminino , Gravidez , Humanos , Masculino , Prova de Trabalho de Parto , Cesárea , Parto Obstétrico/métodos , Hemorragia Pós-Parto/epidemiologia , Hemorragia Pós-Parto/etiologia , Estudos Retrospectivos , Placenta
8.
Andes Pediatr ; 93(3): 361-370, 2022 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-35857007

RESUMO

OBJECTIVE: To functionally characterize patients with Cerebral Palsy (CP) living in the Magallanes Re gion and the Chilean Antarctic. PATIENT AND METHOD: Descriptive-retrospective observational study of patients with cerebral palsy, registered in the Outpatient Rehabilitation Program of the Corporación de Rehabilitación Club de Leones Cruz del Sur de Punta Arenas between 1986 and 2018. Patients with CP were clinically categorized and then functionally characterized according to gross motor skills (GMFCS), manual ability (MACS), feeding ability (EDACS), and communication function (CFCS). RESULTS: 106 patients were included. Regarding the clinical classification, the most common type of CP was bilateral spastic paralysis, with the highest percentage of functional involvement in each of the evaluated areas, followed by unilateral spastic paralysis, while cases of dystonic CP and other non-classifiable types presented were less frequent. According to the clinical subclassification, spastic diplegia was more frequent, especially affecting manual and communication skills level I compared with hemiplegia, while cases of mixed and unclassifiable quadriplegia were less frequent with greater overall involvement of level I feeding skills. CONCLUSION: The observed results of CP in the Magalla nes Region and the Chilean Antarctic are similar to studies available in the literature. The complete evaluation and classification of patients with CP enable a better understanding of the pathology for future studies.


Assuntos
Paralisia Cerebral , Regiões Antárticas , Paralisia Cerebral/reabilitação , Chile , Humanos , Destreza Motora , Espasticidade Muscular , Quadriplegia
9.
Rev. peru. med. exp. salud publica ; 39(2): 170-177, abr.-jun. 2022. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1395056

RESUMO

RESUMEN Objetivos: Conocer la diversidad genética de Aedes aegypti en el corredor vial transfronterizo Central-Alto Paraná de Paraguay, con registros de casos de dengue. Materiales y métodos: Se seleccionaron veinte hembras adultas de la eclosión de huevos de Ae. aegypti procedentes de casas geolocalizadas en los departamentos de Alto Paraná, Caaguazú, Cordillera y Central, entre el 2018 y 2019. Se extrajo ADN del tejido de las hembras para amplificación aleatoria de sus patrones polimórficos mediante amplificación aleatoria del ADN polimórfico por PCR (RAPD-PCR), usando cebadores H3 y B03 a fin de conocer parámetros genéticos de diversidad poblacional. Las relaciones entre las poblaciones de mosquitos según la localidad fueron visualizadas mediante análisis no apareado de la media aritmética. Las áreas idóneas de distribución geográfica real y potencial de estas poblaciones de Ae. aegypti fueron analizadas mediante DIVA-GIS 7.3.0 y MAXENT. Resultados: Se identificaron 40 loci mediante perfiles RAPD-PCR, con diferenciación génica moderada (Gst = 0,12). El corredor transfronterizo presentó condiciones bioclimáticas para la presencia de poblaciones variantes de Ae. aegypti, siendo determinantes en la distribución la precipitación del trimestre más cálido y la temperatura media del trimestre más seco. Conclusiones: Se evidencia que existe diversidad genética moderada en las poblaciones de Ae. aegypti procedentes de zonas con registros de casos de dengue ubicadas en el corredor vial transfronterizo que une los departamentos Central y Alto Paraná de Paraguay. El estudio de variabilidad genética de Ae. aegypti es de gran utilidad para la vigilancia entomoepidemiológica y evaluación de posibles eventos de resistencia al control químico.


ABSTRACT Objective: To determine the genetic diversity of Aedes aegypti in the Central-Alto Paraná cross-border road corridor of Paraguay, an area that has reports of dengue cases. Materials and methods: Twenty adult females were selected from hatching Ae. aegypti eggs from households geolocated in the departments of Alto Paraná, Caaguazú, Cordillera and Central, between 2018 and 2019. DNA was extracted from the tissue of females for amplifying their polymorphic patterns by random amplification of polymorphic DNA by PCR (RAPD-PCR), using primers H3 and B03 in order to identify genetic parameters of population diversity. The relationships between mosquito populations according to locality were observed by unpaired arithmetic mean analysis. We used DIVA-GIS 7.3.0 and MAXENT to analyze the suitable areas of actual and potential geographic distribution of these Ae. aegypti populations. Results: Forty loci were identified by RAPD-PCR profiling, with moderate gene differentiation (Gst = 0.12). The cross-border corridor presented bioclimatic conditions for the presence of variant populations of Ae. aegypti, with precipitation in the warmest quarter and mean temperature in the driest quarter being determinant in the distribution. Conclusions: There is evidence of moderate genetic diversity in Ae. aegypti populations from areas that have reported dengue cases in the cross-border road corridor linking the Central and Alto Paraná departments of Paraguay. The study of genetic variability of Ae. aegypti is very useful for entomo-epidemiological surveillance and evaluation of possible resistance to chemical control.


Assuntos
Polimorfismo Genético , Aedes , Mosquitos Vetores , Variação Genética , Técnica de Amplificação ao Acaso de DNA Polimórfico , Controle de Vetores de Doenças , Doenças Transmitidas por Vetores
11.
Front Immunol ; 12: 665773, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34108966

RESUMO

The COVID-19 pandemic has caused more than three million deaths globally. The severity of the disease is characterized, in part, by a dysregulated immune response. CD16+ monocytes are innate immune cells involved in inflammatory responses to viral infections, and tissue repair, among other functions. We characterized the transcriptional changes in CD16+ monocytes from PBMC of people with COVID-19, and from healthy individuals using publicly available single cell RNA sequencing data. CD16+ monocytes from people with COVID-19 compared to those from healthy individuals expressed transcriptional changes indicative of increased cell activation, and induction of a migratory phenotype. We also analyzed COVID-19 cases based on severity of the disease and found that mild cases were characterized by upregulation of interferon response and MHC class II related genes, whereas the severe cases had dysregulated expression of mitochondrial and antigen presentation genes, and upregulated inflammatory, cell movement, and apoptotic gene signatures. These results suggest that CD16+ monocytes in people with COVID-19 contribute to a dysregulated host response characterized by decreased antigen presentation, and an elevated inflammatory response with increased monocytic infiltration into tissues. Our results show that there are transcriptomic changes in CD16+ monocytes that may impact the functions of these cells, contributing to the pathogenesis and severity of COVID-19.


Assuntos
COVID-19/virologia , Monócitos/virologia , Receptores de IgG/metabolismo , SARS-CoV-2/patogenicidade , Transcrição Gênica , Transcriptoma , Adulto , Idoso , Proteínas Reguladoras de Apoptose/genética , Proteínas Reguladoras de Apoptose/metabolismo , COVID-19/genética , COVID-19/imunologia , COVID-19/metabolismo , Estudos de Casos e Controles , Citocinas/genética , Citocinas/metabolismo , Feminino , Proteínas Ligadas por GPI/metabolismo , Perfilação da Expressão Gênica , Interações Hospedeiro-Patógeno , Humanos , Mediadores da Inflamação/metabolismo , Fatores Reguladores de Interferon/genética , Fatores Reguladores de Interferon/metabolismo , Masculino , Pessoa de Meia-Idade , Proteínas Mitocondriais/genética , Proteínas Mitocondriais/metabolismo , Monócitos/imunologia , Monócitos/metabolismo , RNA-Seq , SARS-CoV-2/imunologia , Índice de Gravidade de Doença , Análise de Célula Única , Adulto Jovem
12.
Rev. ADM ; 78(1): 13-21, ene.-feb- 2021. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1152240

RESUMO

Existe una creciente preocupación sobre el tema de la infección cruzada en clínicas y laboratorios dentales. El laboratorio odontológico debe seguir normas de bioseguridad que garanticen a todo el equipo de salud la prevención de estas infecciones. Los técnicos que allí laboran corren el riesgo de exponer su cara a salpicaduras, así como a rocíos de sangre y saliva. Este estudio fue diseñado para saber si los laboratorios a los que recurrimos cumplen con estas normas de bioseguridad, y qué tan confiados podemos estar de la desinfección por parte de ellos, ya que las prótesis deberían estar desinfectadas correctamente antes de colocarlas en boca (AU)


There is growing concern about the issue of cross infection in dental clinics and laboratories. The dental laboratory must follow biosafety standards that guarantee the prevention of these infections to the entire health team. The technicians who work there run the risk of exposing their face to splashes and spray of blood and saliva. This study was designed to find out if the laboratories we use comply with these biosafety standards, and how confident we can be of their disinfection by them, since the prostheses should be properly disinfected before placing them in the mouth (AU)


Assuntos
Desinfecção , Infecções por Bactérias Gram-Positivas , Infecções por Bactérias Gram-Negativas , Prótese Dentária/efeitos adversos , Controle de Infecções Dentárias/métodos , Laboratórios Odontológicos , Contagem de Colônia Microbiana , Estudos Transversais , Análise de Variância , Consultórios Odontológicos/normas , Técnicas de Cultura
13.
Asia Pac J Clin Oncol ; 17(1): 60-67, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32779388

RESUMO

BACKGROUND: B-cell acute lymphoblastic leukemia (B-ALL) is the most commonly diagnosed childhood malignancy worldwide and is especially common in Mexico. Additionally, the number of cases has increased in recent years. Thus, it is very important to develop molecular strategies to diagnose leukemia. The aim of this study was to investigate MYB expression and to determine its impact on the diagnosis of B-ALL. METHODS: We analyzed the B-ALL gene expression profile by microarray data mining. Bioinformatics analysis was performed to identify the genes that are overexpressed in leukemia. We determined that MYB was highly expressed in leukemia. Then, we validated MYB expression in 70 patients with B-ALL and in 16 healthy controls (HCs) using qRT-PCR. The results were statistically analyzed using the Kolmogorov-Smirnov Z test, Mann-Whitney U test, receiver operating characteristic curves, and the Youden index. RESULTS: The microarrays showed that MYB was overexpressed in B-ALL patients with a fold change of 57.8728 and a P value of 2.56-195 . MYB expression showed great variability among the patients analyzed. However, compared to the HCs, the B-ALL patients had a P value < .0001, an area under the curve of 0.813, and a Youden index of 1.46, indicating the statistical significance. CONCLUSION: MYB expression in B-ALL cells could be a potential molecular marker for childhood leukemia.


Assuntos
Linfócitos B , Genes myb , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Criança , Pré-Escolar , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Lactente , Masculino , Patologia Molecular
14.
J Pediatr Gastroenterol Nutr ; 72(1): 29-35, 2021 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-32732636

RESUMO

OBJECTIVES: The aim of the study was to determine prevalence and characterize sucrase-isomaltase (SI) gene variants of congenital sucrase-isomaltase deficiency in non-Hispanic white pediatric and young adult patients with functional gastrointestinal disorders (FGIDs), and abnormal sucrase activity on histologically normal duodenal biopsy. METHODS: Clinical symptoms and disaccharidase activities data were collected for an abnormal (low) sucrase (≤25.8 U, n = 125) activity group, and 2 normal sucrase activity groups with moderate (≥25.8-≤55 U, n = 250) and high (>55 U, n = 250) sucrase activities. SI gene variants were detected by next-generation sequencing of DNA from formalin-fixed paraffin-embedded tissues of these patients. FGIDs symptoms based on Rome IV criteria and subsequent clinical management of abnormal sucrase activity cases with pathogenic SI gene variants were analyzed. RESULTS: Thirteen SI gene variants were found to be significantly higher in abnormal sucrase cases with FGIDs symptoms (36/125, 29%; 71% did not have a pathogenic variant) compared to moderate normal (16/250, 6.4%, P < 0.001) or high normal (5/250, 2.0%, P < 0.001) sucrase groups. Clinical management data were available in 26 of abnormal sucrase cases, and only 10 (38%) were correctly diagnosed and managed by the clinicians. Concomitant lactase deficiency (24%; 23/97) and pan-disaccharidase deficiency (25%; 13/51) were found in the abnormal sucrase group. CONCLUSIONS: Heterozygous and compound heterozygous mutations in the SI gene were more prevalent in cases with abnormal sucrase activity presenting with FGIDs, and normal histopathology. This suggests heterozygous pathogenic variants of congenital sucrase-isomaltase deficiency may present as FGIDs. Concomitant lactase or pan-disaccharidase deficiencies were common in abnormal sucrase cases with SI gene variants.


Assuntos
Erros Inatos do Metabolismo dos Carboidratos , Gastroenteropatias , Erros Inatos do Metabolismo dos Carboidratos/genética , Criança , Humanos , Oligo-1,6-Glucosidase , Sacarase , Complexo Sacarase-Isomaltase/genética
15.
Acta Radiol ; 62(9): 1248-1256, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32910686

RESUMO

BACKGROUND: Radiofrequency ablation (RFA) and laparoscopic partial nephrectomy (LPN) are used to treat small renal masses (SRM; ≤4 cm), although there are conflicting results in the changes in creatinine and estimated glomerular filtration rate (eGFR) after treatment. On contrast-enhanced computed tomography (CE-CT) images, the quantity and quality of renal function can be evaluated by calculating the split renal function (SRF). PURPOSE: To compare renal function after RFA or LPN treatment of SRMs through evaluation of the SRF in the affected kidney. MATERIAL AND METHODS: Single T1a renal tumors successfully treated with RFA (n = 60) or LPN (n = 31) were retrospectively compared. The SRF was calculated on pre-treatment CE-CT images and the first follow-up exam after completed treatment. Serum creatinine and eGFR values were collected simultaneously. To compare renal function outcomes, Student's t-test and multivariable linear regression models (adjusted to RFA/LPN treatment, pre-treatment SRF/eGFR, BMI, age, tumor characteristics, and Charlson Comorbidity Index) were used. RESULTS: SRF was reduced in both groups, although reduction was greater in the LPN group (LPN -5.7%) than in the RFA group (RFA -3.5%; P = 0.013). After adjusted analysis, the LPN group still had greater SRF reduction (difference 3.2%, 95% confidence interval 1.3-1.5; P = 0.001). There was no difference between groups in the change of creatinine/eGFR after treatment. CONCLUSION: Both RFA and LPN are nephron-sparing when treating SRMs. However, in this series, reduction of SRF in the affected kidney was smaller after RFA, having a more favorable preservation of renal function than LPN.


Assuntos
Neoplasias Renais/cirurgia , Rim/fisiopatologia , Nefrectomia/métodos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/fisiopatologia , Ablação por Radiofrequência/métodos , Adulto , Idoso , Meios de Contraste , Feminino , Humanos , Rim/diagnóstico por imagem , Rim/cirurgia , Laparoscopia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico por imagem , Intensificação de Imagem Radiográfica/métodos , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
16.
Acta Radiol ; : 284185120956283, 2020 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-32910687

RESUMO

BACKGROUND: Thermal ablation (TA) with radiofrequency (RFA) or cryoablation (CA) are established treatments for small renal masses (≤4 cm). Microwave ablation (MWA) has several potential benefits (decreased ablation time, less susceptibility to heat-sink, higher lesion temperatures than RFA) but is still considered experimental considering the available small-sample studies with short follow-up. PURPOSE: To evaluate technique efficacy and complications of our initial experience of renal tumors treated using percutaneous MWA with a curative intent. MATERIAL AND METHODS: A total of 105 renal tumors (in 93 patients) were treated between April 2014 and August 2017. MWA was performed percutaneously with computed tomography (CT) guidance under conscious sedation (n=82) or full anesthesia. Patients were followed with contrast-enhanced CT scans at six months and yearly thereafter for a minimum of five years. The mean follow-up time was 2.1 years. The percentage of tumors completely ablated in a single session (primary efficacy rate) and those successfully treated after repeat ablation (secondary efficacy rate) were recorded. Patient and tumor characteristics as well as complications were collected retrospectively. RESULTS: The median patient age was 70 years and median tumor size was 25 mm. Primary efficacy rate was 96.2% (101/105 tumors). After including two residual tumors for a second ablation session, secondary efficacy was 97.1% (102/105). Periprocedural complications were found in 5.2% (5/95) sessions: four Clavien-Dindo I and one Clavien-Dindo IIIa. One postprocedural Clavien-Dindo II complication was found. CONCLUSION: MWA has high efficacy rates and few complications compared to other TA methods at a mean follow-up of two years.

17.
Med. interna Méx ; 35(5): 708-712, sep.-oct. 2019.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1250265

RESUMO

Resumen: El pénfigo es una enfermedad autoinmunitaria y crónica de incidencia y prevalencia bajas; sin embargo, puede alcanzar mortalidad de incluso 75% sin tratamiento. Existen dos variedades principales: el pénfigo vulgar y el foliáceo, que en términos clínicos se distinguen por la aparición de ampollas en la piel, con afección de las mucosas en los pacientes con pénfigo vulgar. En esta revisión se detalla la epidemiología, causas, fisiopatología y tratamiento de esta enfermedad, con insistencia en la importancia de los esteroides como piedra angular del tratamiento de estos pacientes.


Abstract: Pemphigus is an autoimmune and chronic disease with low incidence and preva- lence. Nevertheless it could reach a 75% mortality rate without treatment. There are two principal types: vulgar pemphigus and foliaceus pemphigus, which are clinically characterized by skin blister appearance, with mucosal affection in patients with pemphigus vulgaris. This review details the epidemiology, etiology, physiopathology and treatment of this disease, remarking the steroid importance as the cornerstone in the management of these patients.

18.
Genes (Basel) ; 10(9)2019 09 16.
Artigo em Inglês | MEDLINE | ID: mdl-31527520

RESUMO

B-cell acute lymphoblastic leukemia is the most commonly diagnosed childhood malignancy worldwide; more than 50% of these cases are diagnosed in Mexico. Although the five-year survival rate is >80%, 30% of patients experience relapse with poor prognosis. Cancer-associated gene expression profiles have been identified in several malignancies, and some transcripts have been used to predict disease prognosis. The human transcriptome is incompletely elucidated; moreover, more than 80% of transcripts can be processed via alternative splicing (AS), which increases transcript and protein diversity. The human transcriptome is divided; coding RNA accounts for 2%, and the remaining 98% is noncoding RNA. Noncoding RNA can undergo AS, promoting the diversity of noncoding transcripts. We designed specific primers to amplify previously reported alternative transcript variants of ZNF695 and showed that six ZNF695 transcript variants are co-expressed in cancer cell lines. The amplicons were sequenced and identified. Additionally, we analyzed the expression of these six transcript variants in bone marrow from B-cell acute lymphoblastic leukemia patients and observed that ZNF695 transcript variants one and three were the predominant variants expressed in leukemia. Moreover, our results showed the co-expression of coding and long noncoding RNA. Finally, we observed that long noncoding RNA ZNF695 expression predicted survival rates.


Assuntos
Processamento Alternativo , Biomarcadores Tumorais/genética , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Células Cultivadas , Criança , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Células MCF-7 , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
19.
Rev Invest Clin ; 71(4): 237-245, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31448780

RESUMO

BACKGROUND: Mitochondrial and oxidative stress has been related to obesity and breast cancer being this cancer more frequent and more aggressive in postmenopausal women with obesity. OBJECTIVE: The objective of this study was to investigate whether Mexican-Mestizo postmenopausal women with breast cancer and obesity present different somatic mutations in the mitochondrial DNA (mtDNA) when compared to women with normal body mass index (BMI). SUBJECTS AND METHODS: We included six Mexican-Mestizo postmenopausal women bearing breast cancer and who underwent mastectomy or breast-conserving surgery. BMI was determined in each case. Patients' genomic DNA was isolated from blood leukocytes and tumor tissue samples. Whole mtDNA sequence was determined by MitoChip v2.0 mitochondrial resequencing array, and data were analyzed using the GeneChip Sequence Analysis Software. Tumor mtDNA sequence was compared with matched leukocyte mtDNA sequence. RESULTS: Three women had a normal BMI and three presented obesity. Overall, we found 64 genetic variants: 53.1% were somatic mutations and 46.9% were polymorphisms; 44.1% were in the non-coding region and 55.9% were in genes that encode for mitochondrial proteins. Among the somatic mutations, 67.7% were in patients with normal BMI and 32.3% in patients with obesity. CONCLUSIONS: We did not find a higher frequency of mitochondrial somatic mutations in postmenopausal women with breast cancer and obesity compared to those with normal BMI. However, results could be due to the small number of women studied.


Assuntos
Neoplasias da Mama/patologia , Genoma Mitocondrial , Obesidade/epidemiologia , Pós-Menopausa , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , Neoplasias da Mama/genética , Neoplasias da Mama/cirurgia , DNA Mitocondrial/genética , Feminino , Humanos , Mastectomia/métodos , Mastectomia Segmentar/métodos , México , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo Genético
20.
Rev. invest. clín ; 71(4): 237-245, Jul.-Aug. 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1289692

RESUMO

Abstract Background Mitochondrial and oxidative stress has been related to obesity and breast cancer being this cancer more frequent and more aggressive in postmenopausal women with obesity. Objective The objective of this study was to investigate whether Mexican-Mestizo postmenopausal women with breast cancer and obesity present different somatic mutations in the mitochondrial DNA (mtDNA) when compared to women with normal body mass index (BMI). Subjects and Methods We included six Mexican-Mestizo postmenopausal women bearing breast cancer and who underwent mastectomy or breast-conserving surgery. BMI was determined in each case. Patients’ genomic DNA was isolated from blood leukocytes and tumor tissue samples. Whole mtDNA sequence was determined by MitoChip v2.0 mitochondrial resequencing array, and data were analyzed using the GeneChip Sequence Analysis Software. Tumor mtDNA sequence was compared with matched leukocyte mtDNA sequence. Results Three women had a normal BMI and three presented obesity. Overall, we found 64 genetic variants: 53.1% were somatic mutations and 46.9% were polymorphisms; 44.1% were in the non-coding region and 55.9% were in genes that encode for mitochondrial proteins. Among the somatic mutations, 67.7% were in patients with normal BMI and 32.3% in patients with obesity. Conclusions We did not find a higher frequency of mitochondrial somatic mutations in postmenopausal women with breast cancer and obesity compared to those with normal BMI. However, results could be due to the small number of women studied.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/patologia , Pós-Menopausa , Genoma Mitocondrial , Obesidade/epidemiologia , Polimorfismo Genético , Neoplasias da Mama/cirurgia , Neoplasias da Mama/genética , DNA Mitocondrial/genética , Mastectomia Segmentar/métodos , Índice de Massa Corporal , Análise de Sequência com Séries de Oligonucleotídeos , Mastectomia/métodos , México
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