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1.
Braz. j. biol ; 84: e250739, 2024. tab
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1355896

RESUMEN

Abstract Several reasons may underlie the dramatic increase in type2 diabetes mellitus. One of these reasons is the genetic basis and variations. Vitamin D receptor polymorphisms are associated with different diseases such as rheumatoid arthritis and diabetes. The aim of this study is to investigate the possible association of two identified mutations ApaI (rs7975232) and TaqI (rs731236). Eighty-nine healthy individuals and Fifty-six Type 2 Diabetic (T2D) patients were investigated using RFLP technique for genotyping and haplotyping as well. The distribution of Apal genotypes was not statistically significant among the control (P=0.65) as well as for diabetic patients (P=0.58). For Taql allele frequencies of T allele was 0.61 where of G allele was 0.39. The frequency distribution of Taql genotypes was not statistically significant among the control (P=0.26) as well as diabetic patients (P=0.17). Relative risk of the allele T of Apa1 gene is 1.28 and the odds ratio of the same allele is 1.53, while both estimates were < 1.0 of the allele G. Similarly, with the Taq1 gene the relative risk and the odds ratio values for the allele T are 1.09 and 1.27 respectively and both estimates of the allele C were 0.86 for the relative risk and 0.79 for the odds ratio. The pairwise linkage disequilibrium between the two SNPs Taq1/apa1 was statistically significant in control group (D = 0.218, D' = 0.925 and P value < 0.001) and similar data in diabetic groups (D = 0.2, D' = 0.875 and P value < 0.001). These data suggest that the T allele of both genes Apa1 and Taq1 is associated with the increased risk of type 2 diabetes. We think that we need a larger number of volunteers to reach a more accurate conclusion.


Resumo Várias razões podem estar subjacentes ao aumento dramático da diabetes mellitus tipo 2. Um desses motivos é a base genética e variações. Os polimorfismos do receptor da vitamina D estão associados a diferentes doenças, como artrite reumatoide e diabetes. O objetivo deste estudo é investigar a possível associação de duas mutações identificadas ApaI (rs7975232) e TaqI (rs731236). Oitenta e nove indivíduos saudáveis ​​e 56 pacientes com diabetes tipo 2 (T2D) foram investigados usando a técnica RFLP para genotipagem e haplotipagem também. A distribuição dos genótipos Apal não foi estatisticamente significativa entre o controle (P = 0,65), bem como para os pacientes diabéticos (P = 0,58). Para as frequências do alelo Taql, o alelo T foi de 0,61, onde o alelo G foi de 0,39. A distribuição de frequência dos genótipos Taql não foi estatisticamente significativa entre o controle (P = 0,26), bem como os pacientes diabéticos (P = 0,17). O risco relativo do alelo T do gene Apa1 é 1,28 e a razão de chances do mesmo alelo é 1,53, enquanto ambas as estimativas foram < 1,0 do alelo G. Da mesma forma, com o gene Taq1, os valores de risco relativo e razão de chances para o alelo T são 1,09 e 1,27, respectivamente, e ambas as estimativas do alelo C foram de 0,86 para o risco relativo e 0,79 para o odds ratio. O desequilíbrio de ligação par a par entre os dois SNPs Taq1 / apa1 foi estatisticamente significativo no grupo de controle (D = 0,218, D' = 0,925 e valor P < 0,001) e dados semelhantes em grupos diabéticos (D = 0,2, D' = 0,875 e valor P < 0,001). Esses dados sugerem que o alelo T de ambos os genes Apa1 e Taq1 está associado ao aumento do risco de diabetes tipo 2. Achamos que precisamos de um número maior de voluntários para chegar a uma conclusão mais precisa.


Asunto(s)
Humanos , Receptores de Calcitriol/genética , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/epidemiología , Arabia Saudita , Estudios de Casos y Controles , Polimorfismo de Nucleótido Simple , Frecuencia de los Genes , Genotipo
2.
J Proteomics ; 271: 104769, 2023 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-36372392

RESUMEN

OBJECTIVE: This study aims to find new plasma biomarkers in early pregnancy. DESIGN: The original study enrolled 1219 pregnant women. We investigated protein expression profiles of placental tissues from women with GDM (n = 89) and normal glucose tolerance (NGT) (n = 83). Maternal plasma samples between two groups in early and middle pregnancy were used for validation of candidate biomarkers. METHODS: Differentially expressed proteins (DEPs) were identified by label-free quantitative proteomics from human placenta samples between two groups. Several DEPs were validated in plasma by Luminex assays. An automatic biochemical analyzer was used to detect blood lipid indexes. The associations of GAL-3BP with biochemical indicators were demonstrated by Pearson's correlation analysis. Binary logistic regression was used to model potential predictive indicators in early pregnancy of GDM. Receiver operating characteristic (ROC) curve was used to evaluate the diagnostic accuracy of the predictive model and the value of GAL-3BP. RESULTS: 123 DEPs were found in placenta involved in ribosomal function, pancreatic secretion, oxidative phosphorylation, and inflammatory signaling pathway. Plasma GAL-3BP are significantly higher in women with GDM than NGT in the first (p = 0.008) and second (p = 0.026) trimester, but C9 and VWF have no difference. The predictive value of GAL-3BP in the first trimester of pregnancy (AUC 0.64) is better than that in the second trimester (AUC 0.61), and combined predictive model of TG and GAL-3BP at early pregnancy has greater predictive and diagnostic value for GDM (AUC 0.69) than individual GAL-3BP (AUC 0.64). CONCLUSIONS: Plasma TG and GAL-3BP has good predictive and diagnostic value at early pregnancy, suggesting that these two indicators may be used as biomarkers for early prediction and diagnosis of GDM. SIGNIFICANCE: The advantage of this study is that circulating TG and GAL-3BP might differentiate the progress of women with GDM and normal glucose tolerance (NGT) at the early stage of pregnancy. It is the first study to consider the role of GAL-3BP as an early predictive biomarker in the development of GDM during the whole pregnancy. Another advantage is that volunteers in this study were recruited from two provinces in China to eliminate the impacts of environmental confounders. The similar changes of blood glucose/lipid indicators for women with GDM and NGT in both regions was found in the first and second trimester of pregnancy, which added to the reliability of analytical results.


Asunto(s)
Diabetes Gestacional , Femenino , Embarazo , Humanos , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/metabolismo , Estudios de Casos y Controles , Reproducibilidad de los Resultados , Placenta/química , Biomarcadores/metabolismo , Glucemia/metabolismo , China , Lípidos
3.
Am J Cardiol ; 186: 203-208, 2023 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-36328832

RESUMEN

The co-morbidities and long-term complications of spontaneous coronary artery dissection (SCAD) are incompletely understood. This study investigated the association of atrial arrhythmias (AA), defined as atrial fibrillation and atrial flutter, with SCAD in a patient registry and population-based cohort. This observational study was performed in 2 parts. The first was a retrospective study reviewing patients diagnosed with AA in the Mayo Clinic SCAD Registry. The second was a population-based, case-control study to assess AA in patients with SCAD compared with age- and gender-matched controls. Of 1,214 patients in the Mayo Clinic SCAD Registry, 45 patients (3.7%) with SCAD were identified with an AA. A total of 8 of those patients (17.8%) had a pre-SCAD AA; 20 (44.4%) had a peri-SCAD AA; and 17 (37.8%) had a post-SCAD AA. The univariate analysis did not reveal significant associations with traditional cardiovascular risk factors. In the population-based cohort, 5 patients with SCAD (4%) and 4 controls (1%) developed an AA before the date of SCAD for each patient (odds ratio 4.5, 95% confidence interval [CI] 1.05 to 19.0, p = 0.04). A total of 5 patients with SCAD (4%) and 3 controls (1%) developed an AA in the 10 years after SCAD (hazard ratio 6.3, 95% CI 1.2 to 32.8, p = 0.03). A subgroup of patients with SCAD experienced AA before and after SCAD. Patients with a history of SCAD were more likely to develop AA in the next 10 years than were age- and gender-matched healthy controls.


Asunto(s)
Anomalías de los Vasos Coronarios , Enfermedades Vasculares , Humanos , Vasos Coronarios , Estudios Retrospectivos , Estudios de Casos y Controles , Angiografía Coronaria , Factores de Riesgo , Factores de Tiempo , Anomalías de los Vasos Coronarios/complicaciones , Anomalías de los Vasos Coronarios/diagnóstico , Anomalías de los Vasos Coronarios/epidemiología , Enfermedades Vasculares/complicaciones , Enfermedades Vasculares/epidemiología , Enfermedades Vasculares/diagnóstico , Arritmias Cardíacas/etiología , Arritmias Cardíacas/complicaciones
4.
Am J Otolaryngol ; 44(1): 103680, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36334419

RESUMEN

INTRODUCTION: There are several factors that seem to affect the surgical success rate of tympanoplasty, one of them being the pneumatization of the contralateral mastoid. In the current literature, several studies have been published with classification proposals for temporal bone pneumatization pattern. This study aims to evaluate the role of mastoid air cell extension in relation to the sigmoid sinus in predicting the surgical success of tympanoplasty. MATERIAL AND METHODS: This case-control study was performed on patients diagnosed with chronic otitis media (COM) who underwent type I tympanoplasty. The study group did not close the tympanic membrane, or there was a retraction or lateralization of the graft. The control group consisted of patients with surgical success. RESULTS: No statistically significant difference was found between groups regrading age, gender, perforation side/type, previous nasal surgery, and the presence of chronic otitis media in contralateral ear. A statistically significant difference was found when groups were compared in relation to the degree of pneumatization of the contralateral ear (p = 0.046), and this relationship does not seem to be influenced by age. CONCLUSION: To predict surgical success in terms of tympanic membrane closure in tympanoplasty, classification of contralateral ear pneumatization degree using the sigmoid sinus as a reference seems to be a valid and easy to apply method, and makes it possible to restrict the evaluation of pneumatization to the mastoid, a cell complex that does not seem to change with age.


Asunto(s)
Otitis Media , Perforación de la Membrana Timpánica , Humanos , Timpanoplastia/métodos , Apófisis Mastoides/diagnóstico por imagen , Apófisis Mastoides/cirugía , Estudios de Casos y Controles , Membrana Timpánica/cirugía , Otitis Media/diagnóstico por imagen , Otitis Media/cirugía , Perforación de la Membrana Timpánica/cirugía , Enfermedad Crónica , Estudios Retrospectivos , Resultado del Tratamiento
5.
Am J Cardiol ; 186: 58-65, 2023 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-36343447

RESUMEN

Amiodarone is a commonly used pharmacotherapy in patients with atrial fibrillation (AF), with a potential for drug-drug interactions with direct oral anticoagulants (DOACs). We aimed to assess the bleeding risk after co-prescription of amiodarone and DOACs among adults with AF. We conducted a population-based, nested case-control study in Ontario, Canada. The study population included all patients with AF aged >66 years on a DOAC between April 1, 2011 and March 31, 2018. Cases were patients admitted with major bleeding (index date). Controls were matched in a 2:1 ratio to cases. We categorized exposure to amiodarone before the index date as: (1) current users (amiodarone within 60 days), (2) past users (amiodarone within 61 to 140 days), and (3) unexposed (no amiodarone prescription or amiodarone prescription >140 days before index date). Conditional logistic regression models were used to examine the association between bleeding and amiodarone co-prescription. Among 86,679 patients with AF on a DOAC, we identified 2,766 cases (3.2%) admitted with major bleeding. The median age of patients with AF was 80 years (interquartile range 75 to 85); 48.3% were women. After multivariable adjustment, there was a significant association between major bleeding and current use of amiodarone (adjusted odds ratio 1.53; 95% confidence interval 1.24 to 1.89, p <0.001) but no significant association between major bleeding and past use of amiodarone (adjusted odds ratio 1.13, 95% confidence interval 0.76 to 1.68, p = 0.545) compared with the unexposed group. In conclusion, among older patients with AF on a DOAC, there was 53% increased odds of major bleeding with the current use of amiodarone.


Asunto(s)
Amiodarona , Fibrilación Atrial , Accidente Cerebrovascular , Adulto , Humanos , Femenino , Anciano de 80 o más Años , Masculino , Fibrilación Atrial/complicaciones , Fibrilación Atrial/tratamiento farmacológico , Fibrilación Atrial/epidemiología , Amiodarona/efectos adversos , Estudios de Casos y Controles , Administración Oral , Anticoagulantes/efectos adversos , Hemorragia/inducido químicamente , Hemorragia/epidemiología , Ontario/epidemiología , Accidente Cerebrovascular/epidemiología
6.
Biol Psychiatry ; 93(1): 29-36, 2023 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-35973856

RESUMEN

BACKGROUND: Single nucleotide polymorphism-based heritability is a fundamental quantity in the genetic analysis of complex traits. For case-control phenotypes, for which the continuous distribution of risk in the population is unobserved, observed-scale heritability estimates must be transformed to the more interpretable liability scale. This article describes how the field standard approach incorrectly performs the liability correction in that it does not appropriately account for variation in the proportion of cases across the cohorts comprising the meta-analysis. We propose a simple solution that incorporates cohort-specific ascertainment using the summation of effective sample sizes across cohorts. This solution is applied at the stage of single nucleotide polymorphism-based heritability estimation and does not require generating updated meta-analytic genome-wide association study summary statistics. METHODS: We began by performing a series of simulations to examine the ability of the standard approach and our proposed approach to recapture liability-scale heritability in the population. We went on to examine the differences in estimates obtained from these 2 approaches for real data for 12 major case-control genome-wide association studies of psychiatric and neurologic traits. RESULTS: We found that the field standard approach for performing the liability conversion can downwardly bias estimates by as much as approximately 50% in simulation and approximately 30% in real data. CONCLUSIONS: Prior estimates of liability-scale heritability for genome-wide association study meta-analysis may be drastically underestimated. To this end, we strongly recommend using our proposed approach of using the sum of effective sample sizes across contributing cohorts to obtain unbiased estimates.


Asunto(s)
Estudio de Asociación del Genoma Completo , Herencia Multifactorial , Polimorfismo de Nucleótido Simple/genética , Fenotipo , Estudios de Casos y Controles
7.
J Intern Med ; 293(1): 91-99, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36111700

RESUMEN

BACKGROUND: Postural orthostatic tachycardia syndrome (POTS) is a common cardiovascular autonomic disorder characterized by excessive heart rate (HR) increase on standing and symptoms of orthostatic intolerance, posing significant limitations on functional capacity. No objective tool exists to classify symptom burden in POTS. METHODS: We conducted a case-control study in 62 POTS patients and 50 healthy controls to compare symptom burden between groups using the newly developed, self-rating, 12-item, Malmö POTS Score (MAPS; 0-10 per item, total range 0-120) based on patients own perception of symptoms through visual analogue scale assessment. We have also explored correlations between symptom severity assessed by MAPS, basic clinical parameters and postural haemodynamic changes. RESULTS: POTS patients showed significantly higher total MAPS score (78 ± 20 vs. 14 ± 12, p < 0.001), higher baseline systolic blood pressure (BP), diastolic BP and HR (p < 0.001) compared with healthy controls. The most prominent symptoms in POTS were palpitations, fatigue and concentration difficulties. Haemodynamic parameters on standing were significantly correlated with palpitations in POTS after adjustment for age and sex (lower systolic and diastolic BP, and higher HR) (p < 0.001 for all). Orthostatic HR was significantly associated with concentration difficulties and total MAPS score. The optimal cut-point value of MAPS to differentiate POTS and healthy controls was ≥42 (sensitivity, 97%; specificity, 98%). CONCLUSIONS: Symptom severity, as assessed by MAPS score, is fivefold higher in POTS compared with healthy individuals. The new MAPS score can be useful as a semiquantitative system to assess symptom burden, monitor disease progression and evaluate pre-test likelihood of disease.


Asunto(s)
Síndrome de Taquicardia Postural Ortostática , Humanos , Síndrome de Taquicardia Postural Ortostática/diagnóstico , Estudios de Casos y Controles , Sistema Nervioso Autónomo , Frecuencia Cardíaca/fisiología , Presión Sanguínea/fisiología
8.
Libyan J Med ; 18(1): 2132628, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36433836

RESUMEN

Vitiligo is a multifactorial dermatosis with many etiological hypotheses that have been suggested for its occurrence. To our knowledge, few epidemiological studies are available on vitiligo induction factors and particularly on the role of exposure to chemicals in the onset of the disease has been found. Therefore, there is need to investigate the relationship between vitiligo and chemical exposures in order to understand this mysterious disease. We conducted a case-control study of patients with vitiligo whose diagnosis was made by a specialist in dermatology. The total study period was of 6 months extending from 1 July to 31 December 2019. The minimum sample size was determined as 46 cases and 92 controls. The control group was gender, age, and professional status matched to the vitiligo group. In the binary logistic regression model, household chemicals/colored toothpaste use, a history of a repeated antibiotic use, and an occupational exposure to phenol/catechol derivatives were significantly associated with vitiligo (three to fourfold increase). Our results suggest that chemical factors play a key role in the occurrence of vitiligo. Therefore, prevention of this dermatosis requires the identification of exposure to the incriminated chemicals in any patient followed for vitiligo. The earlier the diagnosis of 'chemical' or chemically aggravated vitiligo, the better the prognosis for this disease.


Asunto(s)
Vitíligo , Humanos , Vitíligo/inducido químicamente , Vitíligo/epidemiología , Vitíligo/diagnóstico , Estudios de Casos y Controles , Incidencia , Túnez/epidemiología , Fenoles
9.
Clin Chem Lab Med ; 61(1): 154-161, 2023 01 27.
Artículo en Inglés | MEDLINE | ID: mdl-36287134

RESUMEN

OBJECTIVES: Immune checkpoint inhibitors (ICIs) cause a variety of toxicities, including immune-related adverse events (irAEs), but there are no biomarkers to predict their development. Guidelines recommend measuring circulating cardiac troponin I (cTnI) during ICI therapy to detect related cardiotoxicities. Moreover, elevated cTnI has also been associated with worse outcomes in non-cardiac patients, including cancer. Thus here, we investigated whether cTnI levels were higher in patients with irAEs. METHODS: The study consisted of three groups; 21 cancer patients undergoing ICI immunotherapies who presented with irAEs, four patients without irAEs, and 20 healthy controls. Patient samples were assessed at baseline (n=25), during ICI treatment (n=25, median=6 weeks of treatment) and at toxicity (n=6, median=13 weeks of treatment). In addition to blood high sensitivity cardiac troponin I (hs-cTnI), anti-thyroglobulin (TG) and anti-thyroid peroxidase (TPO) antibodies were also quantitated to detect thyroid dysfunction, constituting the second leading toxicity (23.8%) after pneumonitis (28.6%). RESULTS: Four patients with irAEs (n=4/21; 19%) and one without irAEs (n=1/4; 25%) showed higher hs-cTnI levels at any time-point; the remaining had physiological levels. None of these patients developed cardiotoxicity. Concurrent elevated levels of anti-thyroid antibodies and hs-cTnI were detected in one patient with thyroid dysfunction (n=1/5, 20%). However, these antibodies were also elevated in three patients (n=3/16, 19%) with non-thyroid irAEs and in up to 40% of healthy controls. CONCLUSIONS: hs-cTnI was not elevated in patients with irAEs, but larger studies are needed to confirm these observations.


Asunto(s)
Antineoplásicos Inmunológicos , Inhibidores de Puntos de Control Inmunológico , Neoplasias , Humanos , Antineoplásicos Inmunológicos/efectos adversos , Cardiotoxicidad , Estudios de Casos y Controles , Inhibidores de Puntos de Control Inmunológico/efectos adversos , Neoplasias/tratamiento farmacológico , Neoplasias/complicaciones , Estudios Retrospectivos , Enfermedades de la Tiroides , Troponina I
10.
Microvasc Res ; 145: 104444, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36208671

RESUMEN

OBJECTIVE: Although atherosclerosis-related macrovascular complications are well known in acromegaly, studies on endothelial function and arteriolar level are contradictory. In order to test the hypothesis, microvascular changes associated with macrovascular changes in acromegaly, we aimed to evaluate microvascular changes in nailfold capillaries and carotid intima-media thickness (CIMT) in patients with acromegaly. DESIGN: In this cross-sectional observation study, of total 70 patients with acromegaly [ten (14.3 %) were active acromegaly (AA), 60 (85.7 %) were controlled acromegaly (CA)] and 74 healthy controls were enrolled. Microvascular structure was evaluated using the nailfold video capillaroscopy, and CIMT was measured using ultrasonography. RESULTS: The median number of capillaries was less [10 no./mm (min-max: 5-16) vs. 11 no./mm (min-max: 9-15); p = 0.001] in the acromegaly group than in the controls. Capillaries below 6-8 per/mm was more common in the acromegaly patients [six (8.6 %) vs. one (1.4 %); p = 0.046]. All capillaroscopic parameters were similar among the patients with CA or AA. CIMT levels were higher in the acromegaly group than in the control group [0.60 mm (0.43-0.86) vs. 0.38 mm (0.27-0.59); p < 0.001], and AA patients had higher CIMT than CA patients (p = 0.037). None of the clinical or laboratory parameters including growth hormone and IGF-1 were related to capillaroscopic parameters or CIMT. CONCLUSION: Decreased capillary number was the major capillaroscopic finding in acromegaly and there was no significant difference between active and controlled cases, but CIMT was found to be higher in the active group. Increased CIMT levels in acromegaly were not associated with capillary changes. Large-scale, prospective studies are needed to make a definite conclusion about the effect of the disease activity on nailfold capillaries and its association with macrovascular changes.


Asunto(s)
Acromegalia , Humanos , Acromegalia/diagnóstico , Acromegalia/complicaciones , Capilares , Grosor Intima-Media Carotídeo , Estudios Transversales , Estudios de Casos y Controles , Angioscopía Microscópica , Uñas/irrigación sanguínea
11.
Gene ; 851: 146969, 2023 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-36261089

RESUMEN

BACKGROUND: We previously reported on the association between ESR1 and ESR2 gene variants and heightened risk of breast cancer (BC). Here we investigated the association of common ESR1 and ESR2 gene variants with triple negative BC (TNBC). METHODS: This retrospective case-control study involved 488 BC patients (130 TNBC, 358 non-TNBC patients). ESR1 (rs2234693, rs9340799, rs3020314, rs3798577) and ESR2 (rs928554, rs944459, rs4986938, rs1256049, rs1256030, rs1271572) genotyping was done by real-time PCR. RESULTS: While minor allele frequencies (MAF) of ESR1 variants were comparable between TNBC and non-TNBC subjects, significantly higher ESR2 rs1256049 MAF was seen in TNBC patients. Significantly higher frequency of ESR1 rs3798577 T/C and C/C genotypes were noted in TNBC cases, and significant differences were seen in ESR2 rs928554, rs1256049, and rs1271572 genotype distribution. Increased TNBC risk was associated with ESR1 rs3798577 T/C and C/C genotypes according to codominant and dominant models, while positive association of ESR2 rs928554 with TNBC was seen according to codominant and recessive models, and positive association of ESR2 rs1256049 with TNBC was seen according to codominant and dominant models. Positive interactions were noted between ESR2 rs1271572-ESR1 rs3020314, ESR2 rs1271572-ESR1 rs9340799, and ESR2 rs1271572-ESR1 rs2234693, ESR2 rs4986938-ESR1 rs2234693, and ESR2 rs928554-ESR1 rs9340799. Haplotype analysis confirmed the positive association of ESR1 CATT with TNBC, while ACGGCTC and ACGGTT ESR2 haplotypes were positively associated with TNBC. CONCLUSION: Results of this study confirmed the association of unique ESR1 and ESR2 genetic variants with altered risk of TNBC. This suggests possible diagnostic and prognostic role of these variants with TNBC independent of their association with BC.


Asunto(s)
Receptor alfa de Estrógeno , Receptor beta de Estrógeno , Neoplasias de la Mama Triple Negativas , Humanos , Estudios de Casos y Controles , Receptor alfa de Estrógeno/genética , Receptor beta de Estrógeno/genética , Predisposición Genética a la Enfermedad , Genotipo , Polimorfismo de Nucleótido Simple , Estudios Retrospectivos , Neoplasias de la Mama Triple Negativas/genética , Femenino
12.
Gene ; 851: 147025, 2023 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-36328193

RESUMEN

BACKGROUND: LRP5 (Lipoprotein Receptor 5) is one of the representatives of the low-density lipoprotein receptors family that play a crucial role in the process of bone homeostasis and bone remodeling. The role of LRP5 single nucleotide polymorphisms (SNPs) rs3736228 and rs4988321 has been associated with the susceptibility to osteoporosis and bone fracture. The frequency of mentioned LRP5 SNPs is unknown among RA (Rheumatoid Arthritis) patients. The case-control study was designed to determine the association of targeted SNPs among RA patients. METHODOLOGY: Patients were selected by ACR/EULAR 2010 criteria. After ethical approval blood samples of patients and healthy individuals were collected. DNA was extracted from the whole blood followed by amplification of the targeted region by T-ARMS PCR (Tetra-primer Amplification Refractory Mutation System) obtained product was observed on agarose gel electrophoresis. The data were analyzed by statistical and bioinformatic tools. RESULTS: It was observed that the SNPs rs3736228 and rs4988321 showed significant association with the risk of RA [χ2 = 44, p =< 0.001, O.R 95 % CI = 2.495, (1.865 âˆ¼ 3.337), p =< 0.001] and [χ2 = 85, p =< 0.001, O.R 95 % CI = 2.05, (1.571 âˆ¼ 2.69), p =< 0.001] respectively. Haplotypes AT, GC, and GT were found to be significantly associated with the risk of RA. Furthermore, both SNPs were in 40 % LD (Linkage Disequilibrium). CONCLUSIONS: The study revealed that SNPs rs3736228 and rs4988321 were significantly associated with the increased susceptibility to RA. The study serves as the baseline data considering targeted SNPs and their association with the progression of the disease. The study might be utilized for the development of potential biomarker for diagnostic purposes and in the precision medicine approach.


Asunto(s)
Artritis Reumatoide , Polimorfismo de Nucleótido Simple , Humanos , Artritis Reumatoide/genética , Densidad Ósea/genética , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Lipoproteínas LDL , Proteína-5 Relacionada con Receptor de Lipoproteína de Baja Densidad/genética
13.
Mycoses ; 66(1): 69-74, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36111367

RESUMEN

BACKGROUND: Early identification of COVID-19-associated pulmonary aspergillosis (CAPA) is particularly challenging in low- middle-income countries where diagnostic capabilities are limited, and risk factors for CAPA have not been identified. It is also essential to recognise CAPA patients who are likely to have a poorer outcome to decide on aggressive management approaches. Therefore, this study aimed to identify risk factors and outcomes for CAPA among admitted moderate to critical COVID-19 patients at our centre in Pakistan. METHODS: An unmatched case-control study with ratio of 1:2 was conducted on hospitalised adult patients with COVID-19 from March 2020-July 2021. Cases were defined according to European Confederation of Medical Mycology and the International Society for Human and Animal Mycology consensus criteria. Controls were defined as patients hospitalised with moderate, severe or critical COVID-19 without CAPA. RESULTS: A total of 100 CAPA cases (27 probable CAPA; 73 possible CAPA) were compared with 237 controls. Critical disease at presentation (aOR 5.04; 95% CI 2.18-11.63), age ≥ 60 years (aOR 2.00; 95% CI 1.20-3.35) and underlying co-morbid of chronic kidney disease (CKD) (aOR 3.78; 95% CI 1.57-9.08) were identified as risk factors for CAPA. Patients with CAPA had a significantly greater proportion of complications and longer length of hospital stay (p-value < .001). Mortality was higher in patients with CAPA (48%) as compared to those without CAPA (13.5%) [OR = 6.36(95% CI 3.6-11)]. CONCLUSIONS: CAPA was significantly associated with advanced age, CKD and critical illness at presentation, along with a greater frequency of complications and higher mortality.


Asunto(s)
COVID-19 , Aspergilosis Pulmonar , Insuficiencia Renal Crónica , Adulto , Animales , Humanos , Persona de Mediana Edad , Estudios de Casos y Controles , COVID-19/complicaciones , COVID-19/epidemiología , Pakistán/epidemiología , Factores de Riesgo
14.
Environ Res ; 216(Pt 2): 114570, 2023 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-36243049

RESUMEN

The wide-spread environmental pollutants per- and polyfluoroalkyl substances (PFAS) have repeatedly been associated with elevated serum cholesterol in humans. However, underlying mechanisms are still unclear. Furthermore, we have previously observed inverse associations with plasma triglycerides. To better understand PFAS-induced effects on lipid pathways we investigated associations of PFAS-related metabolite features with plasma cholesterol and triglyceride concentrations. We used 290 PFAS-related metabolite features that we previously discovered from untargeted liquid chromatography-mass spectometry metabolomics in a case-control study within the Swedish Västerbotten Intervention Programme cohort. Herein, we studied associations of these PFAS-related metabolite features with plasma cholesterol and triglyceride concentrations in plasma samples from 187 healthy control subjects collected on two occasions between 1991 and 2013. The PFAS-related features did not associate with cholesterol, but 50 features were associated with triglycerides. Principal component analysis on these features indicated that one metabolite pattern, dominated by glycerophospholipids, correlated with longer chain PFAS and associated inversely with triglycerides (both cross-sectionally and prospectively), after adjustment for confounders. The observed time-trend of the metabolite pattern resembled that of the longer chain PFAS, with higher levels during the years 2004-2010. Mechanisms linking PFAS exposures to triglycerides may thus occur via longer chain PFAS affecting glycerophospholipid metabolism. If the results reflect a cause-effect association, as implied by the time-trend and prospective analyses, this may affect the general adult population.


Asunto(s)
Ácidos Alcanesulfónicos , Contaminantes Ambientales , Fluorocarburos , Adulto , Humanos , Estudios de Casos y Controles , Triglicéridos , Estudios Prospectivos , Colesterol
15.
Environ Res ; 216(Pt 2): 114592, 2023 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-36272590

RESUMEN

BACKGROUND: Heat exposures occur in many occupations. Heat has been linked to key carcinogenic processes, however, evidence for associations with cancer risk is sparse. We examined potential associations between occupational heat exposure and prostate cancer risk in a multi-country study. METHODS: We analysed a large, pooled dataset of 3142 histologically confirmed prostate cancer cases and 3512 frequency-matched controls from three countries: Canada, France, and Spain. Three exposure indices: ever exposure, lifetime cumulative exposure and duration of exposure, were developed using the Finnish Job-Exposure Matrix, FINJEM, applied to the lifetime occupational history of participants. We estimated odds ratios (ORs) and 95% confidence intervals (CIs), using conditional logistic regression models stratified by 5-year age groups and study, adjusting for potential confounders. Potential interactions with exposure to other occupational agents were also explored. RESULTS: Overall, we found no association for ever occupational heat exposure (OR 0.97; 95% CI 0.87, 1.09), nor in the highest categories of lifetime cumulative exposure (OR 1.04; 95% CI 0.89, 1.23) or duration (OR 1.03; 95% CI 0.88, 1.22). When using only the Spanish case-control study and a Spanish Job Exposure Matrix (JEM), some weakly elevated ORs were observed. CONCLUSIONS: Findings from this study provide no clear evidence for an association between occupational heat exposure and prostate cancer risk.


Asunto(s)
Enfermedades Profesionales , Exposición Profesional , Neoplasias de la Próstata , Masculino , Humanos , Estudios de Casos y Controles , Enfermedades Profesionales/inducido químicamente , Enfermedades Profesionales/epidemiología , Calor , Exposición Profesional/efectos adversos , Exposición Profesional/análisis , Modelos Logísticos , Neoplasias de la Próstata/epidemiología , Neoplasias de la Próstata/etiología , Factores de Riesgo
16.
Sci Total Environ ; 857(Pt 3): 159570, 2023 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-36283523

RESUMEN

Phthalate metabolites are widely present in humans and can have many adverse effects on pregnant women. To date, many studies on the effects of phthalate metabolites on the risk of gestational diabetes mellitus (GDM) have been published, but the findings of these studies are controversial. We conducted a case-control study to quantify the concentrations of seven phthalate metabolites in the serum of pregnant women and to investigate their association with the risk of GDM and blood glucose levels in pregnant women. Therefore, 201 serum samples (139 pregnant women with GDM and 62 control serum samples) were collected from Hangzhou, China, between 2011 and 2012. The results showed that mono butyl phthalate (MBP; mean = 4.08 ng/mL) was the most abundant phthalate metabolites in human serum, followed by mono (2-ethylhexyl) phthalate (MEHP; mean = 1.28 ng/mL) and mono isobutyl phthalate (MiBP; mean = 1.20 ng/mL). The other results indicated significant associations between MBP (ß = 2.24, 95 % confidence interval (CI): 1.02, 5.07, P = 0.050) and MiBP (ß = 1.84, 95 % CI: 1.03, 3.31, P = 0.041) concentrations in human serum and the incidence of GDM. Moreover, serum MBP (ß = 0.40, 95 % CI: 0.10, 0.70, P = 0.010) and MiBP levels (ß = 0.18, 95 % CI: 0.010, 0.35, P = 0.047) in humans were positively associated with 2-hour blood glucose levels. Our study provides affirmative evidence on previously inconsistent findings that MBP and MiBP exposure may increase the risk of GDM in pregnant women.


Asunto(s)
Diabetes Gestacional , Contaminantes Ambientales , Ácidos Ftálicos , Humanos , Femenino , Embarazo , Diabetes Gestacional/epidemiología , Glucemia/metabolismo , Mujeres Embarazadas , Estudios de Casos y Controles , Ácidos Ftálicos/metabolismo , Exposición a Riesgos Ambientales
17.
Int J Cancer ; 152(2): 203-213, 2023 01 15.
Artículo en Inglés | MEDLINE | ID: mdl-36043555

RESUMEN

Opium use was recently classified as a human carcinogen for lung cancer by the International Agency for Research on Cancer. We conducted a large, multicenter case-control study evaluating the association between opium use and the risk of lung cancer. We recruited 627 cases and 3477 controls from May 2017 to July 2020. We used unconditional logistic regression analyses to estimate the odds ratios (OR) and 95% confidence intervals (CI) and measured the association between opium use and the risk of lung cancer. The ORs were adjusted for the residential place, age, gender, socioeconomic status, cigarettes, and water pipe smoking. We found a 3.6-fold risk of lung cancer for regular opium users compared to never users (95% CI: 2.9, 4.6). There was a strong dose-response association between a cumulative count of opium use and lung cancer risk. The OR for regular opium use was higher for small cell carcinoma than in other histology (8.3, 95% CI: 4.8, 14.4). The OR of developing lung cancer among opium users was higher in females (7.4, 95% CI: 3.8, 14.5) than in males (3.3, 95% CI: 2.6, 4.2). The OR for users of both opium and tobacco was 13.4 (95% CI: 10.2, 17.7) compared to nonusers of anything. The risk of developing lung cancer is higher in regular opium users, and these results strengthen the conclusions on the carcinogenicity of opium. The association is stronger for small cell carcinoma cases than in other histology.


Asunto(s)
Carcinoma de Células Pequeñas , Neoplasias Pulmonares , Adicción al Opio , Carcinoma Pulmonar de Células Pequeñas , Humanos , Femenino , Masculino , Adicción al Opio/epidemiología , Estudios de Casos y Controles , Opio/efectos adversos , Irán/epidemiología , Carcinoma Pulmonar de Células Pequeñas/epidemiología , Carcinoma Pulmonar de Células Pequeñas/etiología , Neoplasias Pulmonares/inducido químicamente , Neoplasias Pulmonares/epidemiología
18.
Int J Cancer ; 152(2): 172-182, 2023 01 15.
Artículo en Inglés | MEDLINE | ID: mdl-36059225

RESUMEN

Pancreatic cancer (PC) is highly fatal, and its incidence is increasing in the United States. Population-based registry studies suggest associations between a few autoimmune conditions and PC risk, albeit based on a relatively small number of cases. We conducted a population-based, nested case-control study to examine the associations between autoimmune conditions and PC risk within the Surveillance, Epidemiology, and End Results Program (SEER)-Medicare population. Incident primary malignant PC cases (n = 80 074) were adults ≥66 years and diagnosed between 1992 and 2015. Controls (n = 320 296) were alive at the time cases were diagnosed and frequency-matched to cases (4:1 ratio) by age, sex, and year of diagnosis. We used multivariable-adjusted, unconditional logistic regression to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for 45 autoimmune conditions identified from Medicare claims. Eight autoimmune conditions including ankylosing spondylitis (OR = 1.45; 95% CI: 1.14-1.84), Graves' disease (OR = 1.18; 95% CI: 1.03-1.34), localized scleroderma (OR = 1.27; 95% CI: 1.06-1.52), pernicious anemia (OR = 1.08; 95% CI: 1.02-1.14), primary sclerosing cholangitis (OR = 1.37; 95% CI: 1.18-1.59), pure red cell aplasia (OR = 1.31; 95% CI: 1.16-1.47), type 1 diabetes (OR = 1.11; 95% CI: 1.07-1.15), and ulcerative colitis (OR = 1.18; 95% CI: 1.07-1.31) were associated with increased PC risk (false discovery rate-adjusted P values <.10). In subtype analyses, these conditions were associated with pancreatic ductal adenocarcinoma, whereas only ulcerative colitis was associated with pancreatic neuroendocrine tumors. Our results support the hypothesis that autoimmune conditions may play a role in PC development.


Asunto(s)
Enfermedades Autoinmunes , Colitis Ulcerosa , Neoplasias Pancreáticas , Humanos , Anciano , Adulto , Estados Unidos/epidemiología , Estudios de Casos y Controles , Medicare , Páncreas , Neoplasias Pancreáticas/epidemiología , Neoplasias Pancreáticas/etiología , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/epidemiología
19.
J Atten Disord ; 27(1): 3-13, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36113004

RESUMEN

OBJECTIVE: Obstructive sleep apnea (OSA), with daytime drowsiness, nocturnal hypoxia, could result in systemic inflammation and oxidative damage. We hypothesize that parental OSA, with chronic systemic inflammation and oxidative stress, might contribute to children's neurodevelopmental disorders, such as ADHD. METHOD: By linking National Birth Registry with the National Health Insurance Research Database, Taiwan, we identified 2006-2015 birth cohort, which comprised 1,723,873 singleton live births, and conducted a nested case-control study. We included children with ADHD and compared them with non-ADHD controls matched with ADHD case on index date. Conditional logistic regression was utilized to calculate adjusted odds ratio (aOR) when investigating the association between parental diseases with risk of ADHD in their offspring. RESULTS: The aOR (95% CI) of offspring's ADHD was 1.758 (1.458-2.119) with paternal OSA and 2.159 (1.442-3.233) with maternal OSA. The subgroup analysis revealed different effects of parental diseases among children's gender. CONCLUSION: Our study demonstrates an association in parental OSA and offspring ADHD, which could inspire further research to clarify the mechanisms.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Apnea Obstructiva del Sueño , Niño , Masculino , Humanos , Estudios de Casos y Controles , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Apnea Obstructiva del Sueño/epidemiología , Apnea Obstructiva del Sueño/complicaciones , Padre , Inflamación/complicaciones , Taiwán/epidemiología , Factores de Riesgo
20.
J Intern Med ; 293(1): 110-120, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36200542

RESUMEN

BACKGROUND: Trimethylamine N-oxide (TMAO) is a gut-derived atherogenic metabolite. However, the role of TMAO and its precursors in the development of stroke remains unclear. We aimed to examine the associations between metabolites in TMAO biosynthesis and stroke risk. METHODS: A nested case-control study was performed in a community-based cohort (2013-2018, n = 16,113). We included 412 identified stroke cases and 412 controls matched by age and sex. Plasma carnitine, choline, betaine, trimethyl lysine (TML), and TMAO were measured by ultrahigh performance liquid chromatography-tandem mass spectrometry. Conditional logistic regression analyses were used to calculate odds ratios (ORs) and their 95% confidence intervals (CIs) between these biomarkers and stroke risk. RESULTS: After adjustment for body mass index, smoking, hypertension, educational attainment, and estimated glomerular filtration rate, the corresponding OR for the highest versus lowest quartile was 1.74 (95% CI: 1.16-2.61, P trend = 0.006) for total stroke and 1.81 (95% CI: 1.14-2.86, P trend = 0.020) for ischemic stroke in an essentially linear dose-response fashion. A significant association between TMAO and nonischemic stroke was shown as a J-shape with OR for the highest versus second quartile of 5.75 (95% CI: 1.73-19.1). No meaningful significant risk association was found among plasma carnitine, choline, betaine, and TML with stroke risk. CONCLUSIONS: Increased TMAO was associated with higher stroke risk in the community-based population, whereas the TMAO precursors carnitine, choline, betaine, and TML were not associated. Further studies are warranted to confirm these findings and to further elucidate the role of TMAO in the development of stroke.


Asunto(s)
Betaína , Accidente Cerebrovascular , Humanos , Betaína/metabolismo , Estudios de Casos y Controles , Colina/metabolismo , Carnitina/metabolismo , Accidente Cerebrovascular/epidemiología
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