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Obstructive sleep apnea (OSA) is quite prevalent during pregnancy and is associated with adverse perinatal outcomes, but its potential influence on fetal development remains unclear. This study investigated maternal OSA impact on the fetus by analyzing gene expression profiles in whole cord blood (WCB). Ten women in the third trimester of pregnancy were included, five OSA and five non-OSA cases. WCB RNA expression was analyzed by microarray technology to identify differentially expressed genes (DEGs) under OSA conditions. After data normalization, 3238 genes showed significant differential expression under OSA conditions, with 2690 upregulated genes and 548 downregulated genes. Functional enrichment was conducted using gene set enrichment analysis (GSEA) applied to Gene Ontology annotations. Key biological processes involved in OSA were identified, including response to oxidative stress and hypoxia, apoptosis, insulin response and secretion, and placental development. Moreover, DEGs were confirmed through qPCR analyses in additional WCB samples (7 with OSA and 13 without OSA). This highlighted differential expression of several genes in OSA (EGR1, PFN1 and PRKAR1A), with distinct gene expression profiles observed during rapid eye movement (REM)-OSA in pregnancy (PFN1, UBA52, EGR1, STX4, MYC, JUNB, and MAPKAP). These findings suggest that OSA, particularly during REM sleep, may negatively impact various biological processes during fetal development.
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Sangre Fetal , Desarrollo Fetal , Apnea Obstructiva del Sueño , Humanos , Femenino , Embarazo , Sangre Fetal/metabolismo , Adulto , Apnea Obstructiva del Sueño/genética , Desarrollo Fetal/genética , Transcriptoma , Perfilación de la Expresión Génica , Complicaciones del Embarazo/genéticaRESUMEN
Intestinal dysbiosis is related to the physiopathology and clinical manifestation of rheumatoid arthritis (RA) and the response to pharmacologic treatment. The objectives of this study were (1) to analyze the effect of conventional synthetic disease modifying anti-rheumatic drugs (csDMARDs) on the abundance of gut microbiota's bacteria; (2) to evaluate the relationship between the differences in microbial abundance with the serum levels of intestinal fatty-acid binding protein 2 (IFABP2), cytokines, and the response phenotype to csDMARDs therapy in RA. A cross-sectional study was conducted on 23 women diagnosed with RA. The abundance of bacteria in gut microbiota was determined with qPCR. The ELISA technique determined serum levels of IFABP2, TNF-α, IL-10, and IL-17A. We found that the accumulated dose of methotrexate or prednisone is negatively associated with the abundance of Lactobacillus but positively associated with the abundance of Bacteroides fragilis. The Lactobacillus/Porphyromonas gingivalis ratio was associated with the Disease Activity Score-28 for RA with Erythrocyte Sedimentation Rate (DAS28-ESR) (r = 0.778, p = 0.030) and with the levels of IL-17A (r = 0.785, p = 0.027) in the group treated with csDMARD. Moreover, a relation between the serum levels of IFABP2 and TNF-α (r = 0.593, p = 0.035) was observed in the group treated with csDMARD. The serum levels of IFABP2 were higher in patients with secondary non-response to csDMARDs therapy. In conclusion, our results suggest that the ratios of gut microbiota's bacteria and intestinal permeability seems to establish the preamble for therapeutic secondary non-response in RA.
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Antirreumáticos , Artritis Reumatoide , Microbioma Gastrointestinal , Lactobacillus , Femenino , Humanos , Antirreumáticos/uso terapéutico , Artritis Reumatoide/tratamiento farmacológico , Artritis Reumatoide/genética , Artritis Reumatoide/metabolismo , Estudios Transversales , Microbioma Gastrointestinal/genética , Microbioma Gastrointestinal/fisiología , Interleucina-17 , Proyectos Piloto , Porphyromonas gingivalis , Factor de Necrosis Tumoral alfa/uso terapéutico , Intestinos/microbiología , Intestinos/fisiopatología , Permeabilidad de la Membrana CelularRESUMEN
BACKGROUND: Hypovitaminosis D is a common health problem. The purpose of this study was to investigate the inter-relationship between serum 25(OH)D levels and paternal and maternal vitamin D status in a sample of snoring children. METHODS: We selected 137 participants for whom serum 25(OH)D had been measured and underwent overnight polysomnography evaluation. Serum glucose, lipids, liver enzymes, parathyroid hormone, insulin, and glycated hemoglobin were also measured. Glucose and insulin levels were used to estimate insulin resistance with the homeostasis model assessment (HOMA-IR). RESULTS: Vitamin D insufficiency (<30 ng/mL) and deficiency (<20 ng/mL) were found in 40.9 and 17.5% of children, respectively. After adjustments for age, BMI z-score and seasonality, the odds ratio for risk of vitamin D insufficiency according to the vitamin D status of parents were: OR (95% CI): paternal insufficiency 15.1 (2.7-35.7), p = 0.002; maternal insufficiency 7.2 (2.4-22), p = 0.001. When children with vitamin D deficiency were analyzed separately, serum 25(OH)D concentration was found to be associated with the apnea-hypopnea index (r = -0.647, p = 0.009) and respiratory arousal index (r = -0.669, p = 0.034). CONCLUSIONS: Family patterns of vitamin D could be helpful for the early identification of children at risk of metabolic and/or sleep disturbances and when considering strategies to improve vitamin D status. IMPACT: Family patterns of vitamin D could be helpful for the early identification of snoring children at risk of metabolic and/or sleep disturbances. Significant associations were found between serum 25-hydroxyvitamin D (25(OH)D) concentrations in children and their parents. An inverse association between 25(OH)D levels and OSA severity was detected in deficient vitamin D children. Children with insufficient and deficient vitamin D status tended to have a worse metabolic profile, so strategies are needed to improve vitamin D status.
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Resistencia a la Insulina , Deficiencia de Vitamina D , Biomarcadores , Niño , Estudios Transversales , Glucosa , Humanos , Insulina , Ronquido/complicaciones , Vitamina D , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/diagnóstico , VitaminasRESUMEN
BACKGROUND: Dermatomyositis (DM) and polymyositis (PM) are forms of idiopathic inflammatory myopathies (IIMs), which are associated with the production of autoantibodies that are useful in the diagnosis and prognosis of the disease. OBJECTIVE: The aim of this study was to determine the frequency of antinuclear autoantibodies (ANAs), myositis-specific autoantibodies (MSAs), and myositis-associated autoantibodies (MAAs) in 6 Latin American countries. METHODS: Two hundred ten patients with IIM were included in this cross-sectional study from 2014 to 2017: 112 from Mexico, 46 from Colombia, 20 from Peru, 16 from the Dominican Republic, 10 from Argentina, and 6 from Guatemala. Antinuclear autoantibodies were detected by indirect immunofluorescence on HEp-2 cells. MSAs and MAAs were tested by a line immunoassay method. Mann-Whitney U and χ2 tests were used for statistical analysis. RESULTS: Of the 210 IIM patients, 139 (66.2%) had DM, 59 (28%) PM, and 12 (5.7%) juvenile DM. The mean age was 43.5 (6-79 years); 158 (75.2%) were female, and 52 (24.8%) were male. The overall frequency of ANA was 60%. The most frequent patterns were fine speckled (AC-4) (78.3%) and cytoplasmic (AC-19) (6.45%). The most frequent MSA were anti-Mi-2 (38.5%) and anti-Jo-1 (11.9%). Anti-Mi-2 was more frequent in patients from Colombia (40.1%). The MAA more frequent were anti-Ro-52/TRIM21 (17.6%) and anti-PM-Scl75 (7.5%). CONCLUSIONS: This is the first study of ANA, MSA, and MAA in patients from 6 countries from the Panamerican League against Rheumatism myositis study group. We observed a general prevalence of 60% of ANA. In relation to MSA and MAA, anti-Mi-2 was the more frequent (38.5%).
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Dermatomiositis , Miositis , Polimiositis , Adulto , Autoanticuerpos , Estudios Transversales , Dermatomiositis/diagnóstico , Dermatomiositis/epidemiología , Femenino , Humanos , Inmunoensayo , Masculino , Miositis/diagnóstico , Miositis/epidemiologíaRESUMEN
Macrophage migration inhibitory factor (MIF) has been associated with the pathogenesis of several rheumatic diseases. In systemic sclerosis (SSc) it has been shown that MIF expression is dysregulated in serum and skin. However, the MIF receptor, CD74, has been poorly investigated and its potential role in the pathogenesis of SSc remains unknown. This study aimed to analyze mRNA, tissue, and serum expression of MIF and CD74 in patients with limited (lcSSc) and diffuse (dcSSc) systemic sclerosis. A case-control study in 20 SSc patients and 20 control subjects (CS) from southern México was conducted. MIF and CD74 mRNA expression levels were quantified by real-time PCR, MIF serum levels were measured by an ELISA kit, and MIF and its receptor CD74 were evaluated by immunohistochemistry of skin biopsies. MIF mRNA expression was significantly higher in CS than in SSc patients (p = 0.02), while CD74 showed no differences between patients and CS. MIF serum levels were similar between SSc patients and CS: dcSSc = 3.82 ng/ml, lcSSc = 3.57 ng/ml, and CS = 3.28 ng/ml. In skin biopsies of SSc, MIF and CD74 were enhanced in keratinocytes, while they showed decreased expression in endothelial cells. On the other hand, the staining of CD74 was high in fibroblasts of dcSSc patients. Our findings show MIF and CD74 deregulation at the transcriptional and translational levels in SSc, which might be associated with the proinflammatory process leading to tissue remodeling and excessive fibrosis in SSc.
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OBJECTIVES: The objective of this study was to compare the results obtained from different assays for the detection of anti-Mi-2 antibodies, which are important markers in the diagnosis of DM. METHODS: The study included 82 patients (68 females/14 males), most of whom had DM (n = 57), followed by PM (n = 16) and juvenile DM (n = 9). All samples were tested using a novel particle-based multi-analyte technology (PMAT) (Inova Diagnostics, research use only) in parallel with a line immunoassay (LIA: Euroimmun). To assess clinical specificity for the PMAT assay, a total of 775 disease and healthy controls were tested. RESULTS: 29 samples were positive by at least one test for anti-Mi-2 antibodies. Of those, 24 were Mi-2ß LIA+, five were Mi-2α LIA+ and 23 Mi-2 PMAT+. The comparison shows varying agreement between the different methods (kappa 0.27-0.77). When LIA results were used as reference for receiver operating characteristics analysis, high area under the curve values were found for both PMAT vs LIA Mi-2α and LIA Mi-2ß. When analysing the results in the context of the myositis phenotype, PMAT associated closest with the DM phenotype. In the control group, 3/775 controls (all low levels) were anti-Mi-2+ resulting in a sensitivity and specificity of 28.1% and 99.6%, respectively. CONCLUSION: Overall, good agreement was found between LIA and PMAT for anti-Mi-2 antibodies, which is important for the standardization of autoantibodies. Anti-Mi-2ß antibodies measured by PMAT tend be more highly associated with the clinical phenotype of DM.
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Autoanticuerpos/sangre , Complejo Desacetilasa y Remodelación del Nucleosoma Mi-2/inmunología , Miositis/diagnóstico , Biomarcadores/sangre , Estudios de Casos y Controles , Dermatomiositis/diagnóstico , Dermatomiositis/inmunología , Femenino , Humanos , Inmunoensayo/métodos , Masculino , Miositis/inmunología , Polimiositis/diagnóstico , Polimiositis/inmunología , Curva ROC , Reproducibilidad de los ResultadosRESUMEN
AIM: The soluble scavenger receptor differentiation antigen 163 (sCD163), a monocyte/macrophage activation marker, is related to cardiovascular mortality in the general population. This study aimed to evaluate their relationship between serum levels of sCD163 with cardiovascular risk indicators in rheumatoid arthritis (RA). METHODS: A cross-sectional study was performed on 80 women diagnosed with RA. The cardiovascular risks were determined using the lipid profile, metabolic syndrome, and QRISK3 calculator. For the assessment of RA activity, we evaluated the DAS28 with erythrocyte sedimentation rate (DAS28-ESR). The serum levels of sCD163 were determined by the ELISA method. Logistic regression models and receiver operating characteristics (ROC) curve were used to assess the association and predictive value of sCD163 with cardiovascular risk in RA patients. RESULTS: Levels of sCD163 were significantly higher in RA patients with high sensitivity protein C-reactive to HDL-c ratio (CHR)≥0.121 (p=0.003), total cholesterol/HDL-c ratio>7% (p=0.004), LDL-c/HDL-c ratio>3% (p=0.035), atherogenic index of plasma>0.21 (p=0.004), cardiometabolic index (CMI)≥1.70 (p=0.005), and high DAS28-ESR (p=0.004). In multivariate analysis, levels of sCD163≥1107.3ng/mL were associated with CHR≥0.121 (OR=3.43, p=0.020), CMI≥1.70 (OR=4.25, p=0.005), total cholesterol/HDL-c ratio>7% (OR=6.63, p=0.044), as well as with DAS28-ESR>3.2 (OR=8.10, p=0.008). Moreover, levels of sCD163 predicted CHR≥0.121 (AUC=0.701), cholesterol total/HDL ratio>7% (AUC=0.764), and DAS28-ESR>3.2 (AUC=0.720). CONCLUSION: Serum levels of sCD163 could be considered a surrogate of cardiovascular risk and clinical activity in RA.
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Rheumatoid Arthritis (RA) is a multifactorial autoimmune disease. Currently, several genes play an important role in the development of the disease. The objective was to evaluate the association of the STAT4 rs7574865 and rs897200 gene variants with RA susceptibility, DAS28, RF, and anti-CCP in Western and Southern Mexico populations. Genotyping was performed on 476 samples (cases = 240; controls = 236) using the Taqman® system and qPCR probes. Disease activity was assessed using DAS28 and HAQ DI. CRP, ESR, RF, and anti-CCP were determined for clinical assessment. Our study showed there is a statistically significant association with susceptibility to RA for the rs7574865 variant in the Western population for the GT and TT genotypes. The same genotypes also showed a moderate-to-high activity according to DAS28 and positive anti-CCP compared to the control group. This association was not found in the Southern population. This work confirms the association of the rs7574865 variant with RA, as well as a moderate-to-high activity and positive anti-CCP in the Western population but not in the Southern population. No association of the rs897200 variant was found in any of the studied populations.
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Anticuerpos Antiproteína Citrulinada , Artritis Reumatoide , Humanos , México , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Artritis Reumatoide/genética , Factor de Transcripción STAT4/genéticaRESUMEN
Systemic sclerosis (SSc) is characterized by a complex interplay of vascular damage, inflammation, and fibrosis, affecting the skin and internal organs. Plasminogen activator inhibitor-1 (PAI-1), a protein encoded by the SERPINE1 gene, is a potential biomarker of SSc because it is primarily involved in fibrinolysis and is associated with the severity of some autoimmune diseases. This study aimed to determine the association between SERPINE1 variant -675 4G/5G and soluble PAI-1 (sPAI-1) levels with the clinical characteristics and risk of SSc in a Mexican population. This cross-sectional study included 56 SSc patients and 114 control subjects (CSs). The variant was genotyped via the PCR-RFLP method and the levels of sPAI-1 were determined using enzyme-linked immunosorbent assays (ELISAs). The -675 4G/5G variant was not associated with SSc risk or sPAI-I levels. However, higher sPAI-1 levels were observed in SSc patients than in CSs (p = 0.045); these levels were significantly correlated with age, platelets, glucose, and serum levels of transforming growth factor (TGF)-ß1, 2, and 3. The SERPINE1 -675 4G/5G variant did not show any association with SSc risk or sPAI-I levels. However, our study shows a possible alteration of sPAI-1 in this disease, which could be associated with the fibrotic and thrombotic processes in SSc.
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BACKGROUND: The prevalence of spondyloarthritis (SpA) varies across populations. In Mexicans, the prevalence of SpA is still unknown. OBJECTIVE: The objective of this study was to determine the prevalence of SpA in the community as well as that of inflammatory back pain (IBP) and ankylosing spondylitis (AS). METHODS: We identified individuals older than 18 years with nontraumatic back pain (BP) in a door-to-door nurse survey using the Community Oriented Program for the Control of Rheumatic Diseases. Then, general physicians and rheumatology fellows selected those likely to have IBP (Berlin criteria). Finally, 2 expert rheumatologists assessed IBP individuals according to clinical data and classification criteria and requested HLA-B27 and radiographic studies to determine the clinical condition of the individual and SpA (European SpA Study Group) classification. RESULTS: The prevalence of BP among 4059 individuals was 14.6% (95% confidence interval [CI], 13.6-15.8). The prevalence of IBP and SpA was 1.3% (95% CI, 1.0-1.7) and 0.6% (95% CI, 0.4-0.9), respectively. Ankylosing spondylitis prevalence was 0.1% (95% CI, 0.02-0.2). Inflammatory back pain and SpA percentage of males and females was similar. The percentage of individuals with IBP according to the 2 experts was lower than that determined by general physicians and rheumatology fellows, but all cases with HLA-B27, radiographic sacroiliitis, SpA, and AS had previous IBP confirmation by the expert. CONCLUSIONS: The prevalence and sex distribution of patients classified with SpA in this community study--as well as that of patients diagnosed with AS--are consistent with those found in recent studies. Expert assessment of individuals with positive responses to questionnaires is relevant for the classification of IBP and SpA.
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Dolor de Espalda/epidemiología , Espondiloartritis/epidemiología , Adulto , Dolor de Espalda/etiología , Dolor de Espalda/inmunología , Femenino , Antígeno HLA-B27/sangre , Encuestas Epidemiológicas , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Prevalencia , Características de la Residencia , Espondiloartritis/complicaciones , Espondiloartritis/inmunología , Espondilitis Anquilosante/complicaciones , Espondilitis Anquilosante/epidemiología , Espondilitis Anquilosante/inmunología , Encuestas y CuestionariosRESUMEN
Tetralogy of Fallot is the most common cyanotic congenital heart disease. Women with this condition may become pregnant, and it is important to detect the disease to prevent cardiovascular complications and to reduce maternal and fetal death. The purpose of this paper is to report the case of a pregnant patient with no previous diagnosis of uncorrected tetralogy of Fallot, who reached the end of pregnancy with added diagnoses of severe preeclampsia and HELLP syndrome. For accurate information about the natural history of tetralogy of Fallot it is necessary to review the literature of the past 30 years because there is no recently published series. It is common for patients with tetralogy of Fallot and pregnancy to suffer a gradual increase in the severity of pulmonary stenosis, with exacerbation of symptoms and increased cyanosis. The long-term prognosis is extremely poor in the absence of correction, with a mortality of 10%.
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Síndrome HELLP/etiología , Preeclampsia/etiología , Complicaciones del Embarazo , Tetralogía de Fallot/complicaciones , Antihipertensivos/uso terapéutico , Cesárea , Diagnóstico Tardío , Diagnóstico por Imagen , Resultado Fatal , Femenino , Síndrome HELLP/tratamiento farmacológico , Humanos , Transfusión de Plaquetas , Preeclampsia/tratamiento farmacológico , Embarazo , Complicaciones Hematológicas del Embarazo , Choque/etiología , Tetralogía de Fallot/diagnóstico , Trombocitopenia/complicaciones , Trombocitopenia/terapia , Adulto JovenRESUMEN
BACKGROUND: Palpation, a traditional haptic ability, is used daily by practitioners of all medical and surgical specialties to assess patients. In the current study, one of the authors, in a routine clinical setting, was able to deduce the dynamic features of the putative inferior belly of omohyoid. This led to a proof-of-concept study that yielded results consistent with the clinical findings. METHODS: The first part of the study involved a survey of 300 rheumatic disease patients in whom the greater supraclavicular fossa was explored by palpation. While the patient kept the head straight, the clinician placed his middle three fingers 2.5-3 cm dorsal to the clavicle in the window between the sternocleidomastoid and trapezius clavicular insertions, explored the supraclavicular fossa, and palpated the paired contractile inferior belly of the assumed omohyoid during flexion in the three orthogonal planes. In the second part of the study, five normal subjects were examined in a similar manner by the same clinician and had independent ultrasonography performed on the dominant side. Descriptive statistics were used, and Yates' corrected chi-squared test was applied to certain nominal variables. Additionally, a comparative anterolateral bilateral neck dissection was performed in a cadaveric specimen. RESULTS: Both studies showed that the contractile structure was the inferior belly of omohyoid and that its contraction occurred during anterior neck flexion and was opposite to the side of neck rotation, resembling the sternocleidomastoid. CONCLUSIONS: Palpation uncovered a previously unknown function of the inferior belly of omohyoid, suggesting that physical examination of the musculoskeletal system based on palpation may lead to hypotheses worthy of exploration.
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BACKGROUND: Increased intestinal permeability promotes the translocation of bacterial products from the local microbiome to the circulation, inducing inflammation and increasing clinical activity in rheumatoid arthritis (RA). This study evaluates whether intestinal fatty acid binding protein 2 (IFABP2) serum levels are prognostic biomarkers of non-response to conventional synthetic disease-modifying antirheumatic drug therapy (csDMARDs) in RA. METHODS: The therapeutic schemes administered to 60 women with RA for at least 18 months were assessed retrospectively, and the treatment response was classified according to the change in DAS28-ESR over time. Serum levels of IFABP2 and TNF-α were determined by ELISA. Receiver operating characteristics (ROC) curve analysis and logistic regression models were used to assess the predictive value and the association of IFABP2 with the non-responder phenotype in RA patients. RESULTS: Eleven women had a responder phenotype, 23 had a primary non-responder phenotype, and 26 had a secondary non-responder phenotype. Secondary non-responders showed higher DAS28-ESR (P = 0.009) and higher IFABP2 serum levels compared to the responder group (P = 0.023) and the primary non-responder group (P = 0.018). IFABP2 serum levels were positively correlated with chloroquine dose (r = 0.581, P = 0.007) and negatively correlated with total cholesterol (r = -0.456, P = 0.019) in secondary non-responders. The area under the curve (AUC) value of IFABP2 for predicting secondary non-response was 0.736, and IFABP2 serum levels > 9.311 ng/mL were associated with secondary non-response to csDMARDs (OR = 6.00, P = 0.003). CONCLUSION: IFABP2 serum levels are potentially a new biomarker predictive of secondary non-response to csDMARDs in RA, although our findings should be validated externally and in a larger cohort.
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Antirreumáticos , Artritis Reumatoide , Femenino , Humanos , Pronóstico , Estudios Retrospectivos , Artritis Reumatoide/diagnóstico , Artritis Reumatoide/tratamiento farmacológico , Antirreumáticos/uso terapéutico , Biomarcadores , Resultado del TratamientoRESUMEN
Systemic sclerosis (SSc) is characterized by chronic inflammation and fibrosis, two processes associated with transforming growth factor ß (TGF-ß) functions. In the present study, we investigated the expression of TGF-ß isoforms in serum and the skin distribution of TGF-ß and two receptors (TGF-ßR1 and TGF-ßR2) and their relationship with some clinical, inflammatory, autoimmune (autoantibodies), and vascular (platelets) biomarkers in SSc patients. A total of 56 SSc patients and 120 control subjects (CS) were included. The serum levels of TGF-ß isoforms were quantified by immunoassay with magnetic microspheres, and the skin biopsies were processed by immunohistochemistry. The soluble levels of the three active TGF-ß isoforms were lower in SSc patients than in CS (p < 0.0001). However, sTGF-ß1 and sTGF-ß3 levels were positively correlated with C-reactive protein levels in SSc patients. Additionally, sTGF-ß2 and sTGF-ß3 levels were positively correlated with the number of platelets in SSc patients. In skin biopsies, TGF-ß1, TGF-ßR1, and TGF-ßR2 expression levels were higher in SSc patients than CS. In conclusion, this is the first study showing a joint decrease of the 3 active TGF-ß isoforms in SSc patients. However, TGF-ß1, TGF-ßR1, and TGF-ßR2 are possibly increased in clinically involved skin. Therefore, it is likely that a distinct role is played by TGF-ß at the local (skin lesions) and systemic levels in SSc patients.
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Esclerodermia Sistémica , Factor de Crecimiento Transformador beta , Humanos , Factor de Crecimiento Transformador beta/metabolismo , Factor de Crecimiento Transformador beta1 , Biomarcadores , Isoformas de ProteínasRESUMEN
Systemic Sclerosis (SSc) is a chronic autoimmune disease characterized by immune disorder, microvascular damage, and fibrosis. TGFB1 gene encodes for the transforming growth factor isoform 1 (TGF-ß1), one of the most important pro-fibrotic cytokines. Therefore, variants in TGFB1 and changes in its expression could be associated with the pathogenesis of SSc. We aimed to evaluate the association of TGFB1 variants (+ 869T>C [rs1982073] and + 915G > C [rs1800471]) with the TGFB1 mRNA expression and SSc risk in the Southern Mexican population. We included 56 SSc patients and 112 control subjects (CS). The genetic variants were determined by the PCR-RFLP method. The TGFB1 mRNA expression was determined by qPCR. For the + 869T>C variant, the C allele was associated with SSc risk (OR = 1.733; CI = 1.087-2.762; p = 0.020). The C allele for the + 915G>C variant was also associated with SSc risk (OR = 11.168; CI = 1.289-96.754; p = 0.023). The relative expression of TGFB1 mRNA was 1.77-fold lower in SSc patients than in CS. Carriers of polymorphic alleles (TC or CC genotypes) for the + 869T>C variant showed 3.7-fold lower mRNA expression than the TT genotype in patients and 4.81-fold lower in CS. For the + 915G>C variant, patients with GA genotype had 1.78-fold lower mRNA expression than GG genotype carriers. In conclusion, the present study showed that + 869T>C and + 915G>C variants could be SSc risk factors for patients from Southern Mexico, and these genetic variants could induce lower mRNA expression of TGFB1.
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Esclerodermia Sistémica , Factor de Crecimiento Transformador beta1 , Humanos , Factor de Crecimiento Transformador beta1/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Genotipo , Esclerodermia Sistémica/genética , Frecuencia de los GenesAsunto(s)
Viaje en Avión , Asma/diagnóstico , Pruebas Respiratorias/métodos , Hipoxia/diagnóstico , Asma/complicaciones , Asma/fisiopatología , Pruebas Respiratorias/instrumentación , Niño , Preescolar , Femenino , Humanos , Hipoxia/complicaciones , Hipoxia/fisiopatología , Masculino , Oximetría , Estudios Prospectivos , Medición de Riesgo , Espirometría , Centros de Atención TerciariaRESUMEN
INTRODUCTION: Obstructive sleep apnea (OSA) increases the risk of type 2 diabetes, and hyperinsulinemia. Pregnancy increases the risk of OSA; however, the relationship between OSA and gestational diabetes mellitus (GDM) is unclear. We aimed (1) to evaluate OSA prevalence in GDM patients; (2) to assess the association between OSA and GDM; and (3) to determine the relationships between sleep parameters with insulin resistance (IR). METHODS: A total of 177 consecutive women (89 with GDM, 88 controls) in the third trimester of pregnancy underwent a hospital polysomnography. OSA was defined when the apnea-hypopnea index (AHI) was ≥5h-1. RESULTS: Patients with GDM had higher pregestational body mass index (BMI) and neck circumference than controls, but no differences in snoring or OSA-symptoms, or AHI (3.2±6.0 vs. 1.9±2.7h-1, p=.069). OSA prevalence was not significantly different in both groups. We did not identify OSA as a GDM risk factor in the crude analysis 1.65 (95%CI: 0.73-3.77; p=.232). Multiple regression showed that total sleep time (TST), TST spent with oxygen saturation<90% (T90), and maximum duration of respiratory events as independent factors related with homeostasis model assessment of IR, while T90 was the only independent determinant of quantitative insulin sensitivity check index. CONCLUSION: OSA prevalence during the third trimester of pregnancy was not significantly different in patients with GDM than without GDM, and no associations between OSA and GDM determinants were found. We identified T90 and obstructive respiratory events length positive-related to IR, while TST showed an inverse relationship with IR in pregnant women.
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Obstructive sleep apnea (OSA) affects between 2% and 4% in children and there is a search for new biomarkers that can be useful both in the diagnosis and in the evolution of the disease. The surfactant protein D (SP-D) is a collection that is part of the innate immune system exerting an anti-inflammatory and antimicrobial effect. Thus, the objective of this study was to evaluate the concentration of SP-D in the suspect OSA pediatric population. A total of 178 children were recruited in this prospective study. Blood samples, sleep parameters, feeding habits, anthropometric, sociodemographic, and family data were collected. Specific biochemical determinations were made, and the plasmatic concentrations of SP-D were measured by enzyme-linked immunosorbent assay. We found no statistical correlation between the SP-D concentration and the apnea-hypopnea index (AHI) from the data. Nevertheless, the changes in SP-D levels could be correlated to a large extent by the arousals that often go along with hypopneas (r = -0.258, p = 0.011 unadjusted; r = -0.258, p = 0.014 adjusted by age and body mass inded [BMI] Z-score). Intermittent hypoxia was correlated with C-reactive protein levels (r = 0.547, p < 0.001 unadjusted; r = 0.542, p < 0.001 adjusted by age and BMI Z-score). Although AHI and SP-D did not appear to correlate, a secondary analysis suggests that sleep fragmentation, which is produced by arousals, may do, and further research is needed to determine the mechanisms by which changes in SP-D occur in OSA.
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Proteína D Asociada a Surfactante Pulmonar , Apnea Obstructiva del Sueño , Niño , Humanos , Hipoxia , Polisomnografía , Estudios Prospectivos , Apnea Obstructiva del Sueño/diagnósticoRESUMEN
Protozoa, nematodes, and platyhelminths are of clinical interest due to their role on the modulation of the immune responses. To determine the frequency of infection by intestinal parasites as well as the status of single or mixed infection (coinfection) and its relation with inflammation and intestinal permeability markers in patients with rheumatoid arthritis (RA), a cross-sectional study was conducted in 18 women diagnosed with RA. A fecal sample of each participant was analyzed for parasitic identification. The DAS28-erythrocyte sedimentation rate score, as well as the serum levels of TNF-α, IL-10, IL-17A, and the intestinal fatty-acid binding protein 2 (IFABP2), was determined through the ELISA technique. The T CD4+ and CD8+ lymphocytes' proportions were determined by flow cytometry. In this study, 50% (n = 9) of the total sample tested were positive to the presence of intestinal protozoa (27% by single infection and 22.2% by coinfection). Blastocystis sp. and Endolimax nana were the most frequently identified protozoa. The serum levels of IFABP2 were increased in patients with infection by protozoa, mainly in those individuals with coinfection and a larger abundance of Blastocystis sp. We found that coinfection by protozoa was related to higher levels of TNF-α and higher frequency of T CD4+ lymphocytes, mainly in patients under antirheumatic treatment. Infection by intestinal protozoa is associated with increased intestinal permeability in patients with RA; thus, infection, coinfection, and abundance of intestinal protozoa should be clinically screened because they could be an associated factor to the clinical variability of the disease.
RESUMEN
INTRODUCTION: Necrotizing pneumonia (NP) is a serious complication of community-acquired pneumonia characterised by the destruction of normal lung parenchyma. No study has evaluated the repercussions of the lung damage in the years following the episode. The aim of this study was to assess the long-term impact on lung function and respiratory symptoms in children hospitalised due to NP. METHODS: We analysed outcomes in children given a diagnosis of NP between January 2003 and April 2016. We selected patients aged more than 4 years capable of undergoing a lung function test, that had been followed up for at least 2 years. The patients completed a respiratory questionnaire and underwent a lung function test. RESULTS: We included a total of 24 patients (12 male). The median age at the time of diagnosis was 28 months, the median length of stay was 15 days, and 18 patients required pleural drainage. The mean duration of follow-up after NP was 8.75 years. During the evaluation, none of the patients exhibited asthma, cough, or exercise-induced symptoms. Three children had a second episode of pneumonia that did not require hospital admission. The spirometry results were the following (given as mean±standard deviation): FEV1 Z-score, -0.47±0.65; FVC Z-score, -0.56±0.73; and FEV1/FVC Z-score, 0.19±0.98. We found no evidence of obstructive pulmonary disease or restrictive patterns. CONCLUSIONS: The long-term outcomes of paediatric NP are good. However, patients exhibited mildly impaired lung function several years after the episode. We recommend follow-up of these patients due to potential impairments in lung function in adulthood.