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1.
Int J Mol Sci ; 25(15)2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39125656

RESUMEN

Abnormal shifts in global climate, leading to extreme weather, significantly threaten the safety of individuals involved in outdoor activities. Hypothermia-induced coma or death frequently occurs in clinical and forensic settings. Despite this, the precise mechanism of central nervous system injury due to hypothermia remains unclear, hindering the development of targeted clinical treatments and specific forensic diagnostic indicators. The GEO database was searched to identify datasets related to hypothermia. Post-bioinformatics analyses, DEGs, and ferroptosis-related DEGs (FerrDEGs) were intersected. GSEA was then conducted to elucidate the functions of the Ferr-related genes. Animal experiments conducted in this study demonstrated that hypothermia, compared to the control treatment, can induce significant alterations in iron death-related genes such as PPARG, SCD, ADIPOQ, SAT1, EGR1, and HMOX1 in cerebral cortex nerve cells. These changes lead to iron ion accumulation, lipid peroxidation, and marked expression of iron death-related proteins. The application of the iron death inhibitor Ferrostatin-1 (Fer-1) effectively modulates the expression of these genes, reduces lipid peroxidation, and improves the expression of iron death-related proteins. Severe hypothermia disrupts the metabolism of cerebral cortex nerve cells, causing significant alterations in ferroptosis-related genes. These genetic changes promote ferroptosis through multiple pathways.


Asunto(s)
Corteza Cerebral , Ferroptosis , Hipotermia , Neuronas , Ferroptosis/genética , Animales , Hipotermia/metabolismo , Corteza Cerebral/metabolismo , Corteza Cerebral/patología , Neuronas/metabolismo , Hierro/metabolismo , Peroxidación de Lípido , Masculino , Ratas , Fenilendiaminas/farmacología , Ciclohexilaminas
2.
Eur J Clin Microbiol Infect Dis ; 41(12): 1421-1432, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36255537

RESUMEN

To evaluate the effect of empirical antifungal treatment (EAFT) on mortality in critically ill patients without invasive fungal infections (IFIs). This was a single-center propensity score-matched retrospective cohort study involving non-transplanted, non-neutropenic critically ill patients with risk factors for invasive candidiasis (IC) in the absence of IFIs. We compared all-cause hospital mortality and infection-attributable hospital mortality in patients who was given EAFT for suspected IC as the cohort group and those without any systemic antifungal agents as the control group. Among 640 eligible patients, 177 patients given EAFT and 177 control patients were included in the analyses. As compared with controls, EAFT was not associated with the lower risks of all-cause hospital mortality [odds ratio (OR), 0.911; 95% CI, 0.541-1.531; P = 0.724] or infection-attributable hospital mortality (OR, 1.149; 95% CI, 0.632-2.092; P = 0.648). EAFT showed no benefit of improvement of infection at discharge, duration of mechanical ventilation, and antibiotic-free days. However, the later initiation of EAFT was associated with higher risks of all-cause hospital mortality (OR, 1.039; 95% CI, 1.003 to 1.076; P = 0.034) and infection-attributable hospital mortality (OR, 1.046; 95% CI, 1.009 to 1.085; P = 0.015) in patients with suspected IC. This effect was also found in infection-attributable hospital mortality (OR, 1.042; 95% CI, 1.005 to 1.081; P = 0.027) in septic patients with suspected IC. EAFT failed to decrease hospital mortality in non-neutropenic critically ill patients without IFIs. The timing may be critical for EAFT to improve mortality in these patients with suspected IC. ChiCTR2000038811, registered on Oct 3, 2020.


Asunto(s)
Antifúngicos , Candidiasis Invasiva , Humanos , Antifúngicos/uso terapéutico , Enfermedad Crítica , Estudios Retrospectivos , Candidiasis Invasiva/tratamiento farmacológico , Estudios de Cohortes , Unidades de Cuidados Intensivos
3.
BMC Infect Dis ; 22(1): 891, 2022 Nov 28.
Artículo en Inglés | MEDLINE | ID: mdl-36443688

RESUMEN

BACKGROUND: The impact of corticosteroids on patients with severe coronavirus disease 2019 (COVID-19)/chronic hepatitis B virus (HBV) co-infection is currently unknown. We aimed to investigate the association of corticosteroids on these patients. METHODS: This retrospective multicenter study screened 5447 confirmed COVID-19 patients hospitalized between Jan 1, 2020 to Apr 18, 2020 in seven centers in China, where the prevalence of chronic HBV infection is moderate to high. Severe patients who had chronic HBV and acute SARS-cov-2 infection were potentially eligible. The diagnosis of chronic HBV infection was based on positive testing for hepatitis B surface antigen (HBsAg) or HBV DNA during hospitalization and a medical history of chronic HBV infection. Severe patients (meeting one of following criteria: respiratory rate > 30 breaths/min; severe respiratory distress; or SpO2 ≤ 93% on room air; or oxygen index < 300 mmHg) with COVID-19/HBV co-infection were identified. The bias of confounding variables on corticosteroids effects was minimized using multivariable logistic regression model and inverse probability of treatment weighting (IPTW) based on propensity score. RESULTS: The prevalence of HBV co-infection in COVID-19 patients was 4.1%. There were 105 patients with severe COVID-19/HBV co-infections (median age 62 years, 57.1% male). Fifty-five patients received corticosteroid treatment and 50 patients did not. In the multivariable analysis, corticosteroid therapy (OR, 6.32, 95% CI 1.17-34.24, P = 0.033) was identified as an independent risk factor for 28-day mortality. With IPTW analysis, corticosteroid treatment was associated with delayed SARS-CoV-2 viral RNA clearance (OR, 2.95, 95% CI 1.63-5.32, P < 0.001), increased risk of 28-day and in-hospital mortality (OR, 4.90, 95% CI 1.68-14.28, P = 0.004; OR, 5.64, 95% CI 1.95-16.30, P = 0.001, respectively), and acute liver injury (OR, 4.50, 95% CI 2.57-7.85, P < 0.001). Methylprednisolone dose per day and cumulative dose in non-survivors were significantly higher than in survivors. CONCLUSIONS: In patients with severe COVID-19/HBV co-infection, corticosteroid treatment may be associated with increased risk of 28-day and in-hospital mortality.


Asunto(s)
Tratamiento Farmacológico de COVID-19 , Coinfección , Hepatitis B Crónica , Hepatitis B , Humanos , Masculino , Persona de Mediana Edad , Femenino , SARS-CoV-2 , Hepatitis B Crónica/complicaciones , Hepatitis B Crónica/tratamiento farmacológico , Coinfección/tratamiento farmacológico , Coinfección/epidemiología , Virus de la Hepatitis B , Corticoesteroides/uso terapéutico , Antígenos de Superficie de la Hepatitis B
4.
Chemistry ; 27(35): 9141-9151, 2021 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-33938042

RESUMEN

Developing highly active and sensitive peroxidase mimics for L -cysteine (L -Cys) colorimetric detection is very important for biotechnology and medical diagnosis. Herein, polyoxometalate-doped porous Co3 O4 composite (NiMo6 @Co3 O4 ) was designed and prepared for the first time. Compared with pure and commercial Co3 O4 , NiMo6 @Co3 O4 (n) composites exhibit the enhanced peroxidase-mimicking activities and stabilities due to the strong synergistic effect between porous Co3 O4 and multi-electron NiMo6 clusters. Moreover, the peroxidase-mimicking activities of NiMo6 @Co3 O4 (n) composites are heavily dependent on the doping mass of NiMo6 , and the optimized NiMo6 @Co3 O4 (2) exhibits the superlative peroxidase-mimicking activity. More importantly, a sensitive L -Cys colorimetric detection is developed with the sensitivity of 0.023 µM-1 and the detection limit at least 0.018 µM in the linear range of 1-20 µM, which is by far the best enzyme-mimetic performances, to the best our knowledge.


Asunto(s)
Técnicas Biosensibles , Colorimetría , Peroxidasa , Peroxidasas , Porosidad
5.
J Transl Med ; 18(1): 461, 2020 12 07.
Artículo en Inglés | MEDLINE | ID: mdl-33287826

RESUMEN

BACKGROUND: Information regarding characteristics and risk factors of COVID-19 amongst middle-aged (40-59 years) patients without comorbidities is scarce. METHODS: We therefore conducted this multicentre retrospective study and collected data of middle-aged COVID-19 patients without comorbidities at admission from three designated hospitals in China. RESULTS: Among 119 middle-aged patients without comorbidities, 18 (15.1%) developed into severe illness and 5 (3.9%) died in hospital. ARDS (26, 21.8%) and elevated D-dimer (36, 31.3%) were the most common complications, while other organ complications were relatively rare. Multivariable regression showed increasing odds of severe illness associated with neutrophil to lymphocyte ratio (NLR, OR, 11.238; 95% CI 1.110-1.382; p < 0.001) and D-dimer greater than 1 µg/ml (OR, 16.079; 95% CI 3.162-81.775; p = 0.001) on admission. The AUCs for the NLR, D-dimer greater than 1 µg/ml and combined NLR and D-dimer index were 0.862 (95% CI, 0.751-0.973), 0.800 (95% CI 0.684-0.915) and 0.916 (95% CI, 0.855-0.977), respectively. SOFA yielded an AUC of 0.750 (95% CI 0.602-0.987). There was significant difference in the AUC between SOFA and combined index (z = 2.574, p = 0.010). CONCLUSIONS: More attention should be paid to the monitoring and early treatment of respiratory and coagulation abnormalities in middle-aged COVID-19 patients without comorbidities. In addition, the combined NLR and D-dimer higher than 1 µg/ml index might be a potential and reliable predictor for the incidence of severe illness in this specific patient with COVID-19, which could guide clinicians on early classification and management of patients, thereby relieving the shortage of medical resource. However, it is warranted to validate the reliability of the predictor in larger sample COVID-19 patients.


Asunto(s)
COVID-19/epidemiología , Adulto , COVID-19/complicaciones , COVID-19/diagnóstico por imagen , Causas de Muerte , Comorbilidad , Femenino , Productos de Degradación de Fibrina-Fibrinógeno/metabolismo , Humanos , Incidencia , Modelos Logísticos , Linfocitos/patología , Masculino , Persona de Mediana Edad , Neutrófilos/patología , Puntuaciones en la Disfunción de Órganos , Admisión del Paciente , Curva ROC , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento
6.
Inorg Chem ; 59(21): 15579-15582, 2020 Nov 02.
Artículo en Inglés | MEDLINE | ID: mdl-33054195

RESUMEN

Four polyoxometalate (POM)-based Cu complexes with the hydroxylated pyridine analogue 3-(2-hydroxylpyrid-4-yl)-5-(1H-1,2,4-triazol-3-yl)-1,2,4-triazolyl (btpo), H3{[Cu2(btpo)2](PW12O40)}·2H2O (1), H3{[Cu2(btpo)2](PMo12O40)}·2H2O (2), H2{[Cu2(btpo)2](SiW12O40)·SO4 (3), and H4{[Cu4(btpo)4](SiW12O40)}·8H2O (4), were synthesized hydrothermally under acid conditions. Single-crystal X-ray structural analysis reveals that 3-(pyrid-4-yl)-5-(1H-1,2,4-triazol-3-yl)-1,2,4-triazolyl was hydroxylated into btpo in compounds 1-4, again providing structural evidence for the Gillard mechanism, in which H2O as a weak nucleophile can attack the α-C atom of N-heterocyclic molecules at a lower pH value (ca. 1.0) with the help of POMs.

7.
J Obstet Gynaecol Res ; 46(9): 1900-1906, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32643293

RESUMEN

The concomitant occurrence of 8q duplication and 13q deletion is the first to be detected by noninvasive prenatal testing (NIPT) to date. Through case analysis, we could provide a clinical approach to pregnant women with chromosomal abnormalities revealed by NIPT. The combination of traditional karyotype and copy number variation sequencing (CNV-seq) could better locate the abnormal chromosomal region and further identify the source of fetal chromosomal abnormalities. Simultaneously, we evaluated the fetal morphology by ultrasound examination. The karyotype of the fetus was 46,XY,der(13)t(8;13)(q22;q32)mat and CNV-seq results showed that there was an approximately 45.26-Mb duplication in 8q22.2-q24.3 (101040001-146 300 000) and an approximately 9.54-Mb deletion in 13q33.2-q34 (105560001-115 100 000). Prenatal ultrasound revealed the fetal structural abnormalities presented with hypoplasia of the cerebellar vermis, a flat nose, echogenic bowel and absent gallbladder. Herein, we consider that combination detection of traditional karyotyping, CNV-seq and ultrasonography provides a valuable method for pregnant women with abnormal NIPT.


Asunto(s)
Trastornos de los Cromosomas , Variaciones en el Número de Copia de ADN , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Femenino , Feto , Humanos , Cariotipificación , Embarazo , Diagnóstico Prenatal
8.
Zhongguo Zhong Yao Za Zhi ; 45(15): 3525-3532, 2020 Aug.
Artículo en Zh | MEDLINE | ID: mdl-32893540

RESUMEN

To investigate the clinical characteristics and the rule of administration of Ciwujia Injection in patients with cardiovascular disease by correlation analysis and frequency analysis. The information of 5 904 patients who used Ciwujia Injection to treat cardiovascular disease for at least three times in the hospital information system(HIS) of 19 comprehensive tertiary hospitals nationwide. The frequency analysis method was used to analyze the higher frequency variables, and the algorithm of Apriori correlation analysis method was used to analyze the clinical characteristics and medication laws of Ciwujia Injection in treating patients with cardiovascular disease. Among the 5 904 patients, the median age of the patients was 70 years, and the number of patients between 65-75 years old was up to 2 096(35.5%). There were more women than men in terms of diagnosis and treatment, and the women at age of 45-65 and 65-75 years old were more than men. The top three diagnoses by Western medicine were coronary heart disease in 8 104 cases(65.66%), dyslipidemia in 2 515 cases(20.38%), and cardiac function grade Ⅱ-Ⅲ in 581 cases(4.71%), while the largest number of syndromes in traditional Chinese medicine(TCM) at discharge was 1 109(21.37%) in other type, followed by 739 cases(14.24%) of Qi deficiency and blood stasis syndrome, and 698(13.46%) of liver and kidney Yin deficiency syndrome. The most frequently used Western medicine in combined use was Nifedipine in 2 567 cases(7.21%), and most frequently used TCM was Compound Xianzhuli Liquid leachate in 766 cases(3.53%). From the results of pharmacological analysis, the frequency of using Ciwujia Injection + stasi-seliminating agent + calcium channel blocking drugs was highest when using 1 Chinese medicine combined with 1 or 2 Western medicines. In the use of 2 Chinese medicines combined with 1 Western medicine, Ciwujia Injection + heat-clearing agent + stasis-eliminating agent + calcium channel blocker was the most common. This study demonstrated that Ciwujia Injection was more common in middle-aged and elderly patients and more in women than men. Treatment should be based on different cardiovascular disease treatment guidelines to reduce complications caused by underlying diseases, and attention should be paid to the prevention and treatment of cardio-vascular disease risk factors such as hypertension, diabetes and abnormal lipid metabolism. According to the analysis of frequency distribution and association rules, it was concluded that Ciwujia Injection was mainly used in combination with calcium channel blockers and stasis-eliminating agents in the treatment of cardiovascular disease. In the treatment of cardiovascular diseases by Ciwujia Injection in combination with other Chinese and Western medicines, in order to avoid pharmacological changes and avoid affecting the efficacy of the drug, it is necessary to closely observe whether adverse reactions occur and ensure that the medication is safe and effective. This study provides a good reference for the follow-up clinical guidance of Ciwujia Injection.


Asunto(s)
Enfermedades Cardiovasculares , Medicamentos Herbarios Chinos , Eleutherococcus , Anciano , Femenino , Humanos , Masculino , Medicina Tradicional China , Persona de Mediana Edad , Deficiencia Yin
9.
Inorg Chem ; 57(7): 3865-3872, 2018 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-29553262

RESUMEN

For exploring the multifold helical fabrication of polyoxometalate (POM)-based hybrid compounds, four POM-based crystalline compounds with different meso-helices, H3[Ag27(trz)16(H2O)6][SiW12O40]2·5H2O (1), H[Ag27(trz)16(H2O)4][PW12O40]2·2H2O (2), [Ag23(trz)14(H2O)2][HSiW12O40] (3), and [Ag23(trz)14(H2O)2][PW12O40] (4), were successfully isolated by using the delicate 1,2,3-triazole ligand and silver ions in this work. Crystal analysis reveals that compounds 1 and 2 and compounds 3 and 4 are isomorphous and display 2-/4-fold mixed meso-helices and simple 2-fold meso-helices, respectively. In addition, due to the reversible multielectron redox behavior and electron storage functions of POMs, compounds 1 and 3 were studied as anode materials in lithium-ion batteries (LIBs). Compounds 1 and 3 show very high lithiation capacities (1356 and 1140 mAh g-1, respectively) in the initial cycle, which are much higher than those of (NBu4)4[SiW12O40] and commercial graphite at the current density of 100 mA g-1. More importantly, both compounds also show good stable performance after 100 cycles.

10.
Inorg Chem ; 56(14): 8311-8318, 2017 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-28648059

RESUMEN

A series of remarkable crystalline compounds containing metallapillararene/metallacalixarene metal-organic frameworks (MOFs), [Ag5(pyttz)3·Cl·(H2O)][H3SiMo12O40]·3H2O (1), [Ag5(trz)6][H5SiMo12O40] (2), [Ag5(trz)6][H5GeMo12O40] (3), and [Ag5(trz)6][H4PW12O40] (4) (pyttz = 3-(pyrid-4-yl)-5-(1H-1,2,4-triazol-3-yl)-1,2,4-triazolyl, trz = 1,2,4-triazole), have been obtained by using a simple one-step hydrothermal reaction of silver nitrate, pyttz for 1 and trz for 2-4, and Keggin type polyoxometalates (POMs). Crystal analysis reveals that Keggin POMs have been successfully incorporated in the windows of the metallapillararene/metallacalixarene MOFs in compounds 1-4. In addition, the Keggin silicomolybdenate-based hybrid compounds 1 and 2 were used as anode materials in lithium ion batteries (LIBs), which exhibited promising electrochemical performance with the first discharge capacities of 1344 mAh g-1 for 1 and 1452 mAh g-1 for 2, and this stabilized at 520 mAh g-1 for 1 and 570 mAh g-1 for 2 after 100 cycles at a current density of 100 mA g-1. The performances are better than that of (NBu4)4[SiMo12O40] matrix and commercial graphite anodes.

11.
Tumour Biol ; 35(9): 9269-79, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24938872

RESUMEN

The targeted small-molecule drug AZD6244 is an allosteric, ATP-noncompetitive inhibitor of MEK1/2 that has shown activity against several malignant tumors. Here, we report that AZD6244 repressed cell growth and induced apoptosis and G1-phase arrest in the breast cancer cell lines MDA-MB-231 and HCC1937. Using microRNA (miRNA) arrays and quantitative RT-PCR, we found that miR-203 was up-regulated after AZD6244 treatment. In accordance with bioinformatics and luciferase activity analyses, CUL1 was found to be the direct target of miR-203. Furthermore, miR-203 inhibition and CUL1 overexpression reversed the cytotoxicity of AZD6244 on the MDA-MB-231 and HCC1937 cells. Collectively, our data indicate that miR-203 mediates the AZD6244-induced cytotoxicity of breast cancer cells and that the MEK/ERK/miR-203/CUL1 signaling pathway may participate in this process.


Asunto(s)
Apoptosis/efectos de los fármacos , Bencimidazoles/farmacología , Proliferación Celular/efectos de los fármacos , Puntos de Control de la Fase G1 del Ciclo Celular/efectos de los fármacos , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Neoplasias de la Mama/patología , Línea Celular Tumoral , Supervivencia Celular/efectos de los fármacos , Proteínas Cullin/genética , Proteínas Cullin/metabolismo , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , MicroARNs/genética , Proteínas Quinasas Activadas por Mitógenos/metabolismo , Análisis de Secuencia por Matrices de Oligonucleótidos , Inhibidores de Proteínas Quinasas/farmacología , Interferencia de ARN , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transducción de Señal/efectos de los fármacos , Regulación hacia Arriba
12.
Front Surg ; 11: 1390656, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39011051

RESUMEN

Objective: This study seeks to investigate the impact of histopathological evidence of histological prostatic inflammation (PI) on the surgical outcomes of patients with benign prostatic hyperplasia (BPH) undergoing transurethral bipolar enucleation of the prostate (BiLEP) after biopsy. Methods: We conducted a prospective study in which data were collected from 112 patients with BPH who underwent BiLEP immediately after prostate biopsy at the Department of Urology in our hospital between October 2020 and October 2023. This cohort included 52 patients with histopathological prostatic inflammation (BPH + PI group) and 60 patients with simple BPH (BPH group). Baseline characteristics, surgical details, International Prostate Symptom Score (IPSS), quality of life (QoL), post-void residual volume (PVR), maximum flow rate (Qmax), International Index of Erectile Function-5 (IIEF-5), postoperative pathology results, and surgical complications were compared between the two groups. Results: The study findings indicate that in patients with BPH who underwent BiLEP, various parameters in the BPH + PI group including operation time, intraoperative flushing volume, hemoglobin drop value, postoperative white blood cells, postoperative C-reactive protein, and average pain score at 3 days postoperatively were significantly higher compared to those in the BPH group (p < 0.01). In addition, the IPSS and IIEF-5 scores of the BPH + PI group were significantly worse before surgery and at 2 weeks postoperatively compared to the BPH group (p < 0.01); however, no significant differences were observed between the two groups at 1 and 3 months postoperatively (p > 0.05). At 2 weeks postoperatively, the BPH + PI group exhibited significantly worse outcomes in terms of QoL, PVR, and Qmax compared to the BPH group (p < 0.01). However, there were no statistically significant differences between the two groups at 1 and 3 months postoperatively (p > 0.05). The incidence rates of postoperative complications, such as fever, prostatic capsule perforation, urinary tract irritation, bladder spasm, acute epididymitis, urinary tract infection, and urethral stricture, were higher in the BPH + PI group compared to the BPH group (p < 0.05). Nevertheless, there was no significant difference in the overall complication rates between the two groups (p > 0.05). There were no statistically significant differences observed between the two groups in postoperative irrigation volume, extubation time, hospitalization time, proportion of secondary operations, proportion of bladder injury, and proportion of urinary incontinence (p > 0.05). However, the proportion of reported prostate cancer after surgery in the BPH + PI group was significantly higher than that in the BPH group (p < 0.05). Conclusion: Histopathological prostatic inflammation does not have a significant impact on the long-term efficacy of BiLEP surgery immediately after biopsy. However, it does prolong surgery time, increase surgery-related complications, and influence short-term surgical outcomes and patient treatment experience. Therefore, it may be advisable to administer a course of anti-inflammatory treatment before performing BiLEP in such patients. Nevertheless, further high-quality studies are necessary to validate this approach.

13.
Mol Cytogenet ; 17(1): 12, 2024 May 13.
Artículo en Inglés | MEDLINE | ID: mdl-38741090

RESUMEN

BACKGROUND: Both copy number variant-sequencing (CNV-seq) and karyotype analysis have been used as powerful tools in the genetic aetiology of fetuses with congenital heart diseases (CHD). However, CNV-seq brings clinicians more confusions to interpret the detection results related to CHD with or without extracardiac abnormalities. Hence, we conducted this study to investigate the clinical value of CNV-seq in fetuses with CHD. RESULTS: A total of 167 patients with fetal CHD including 36 single CHD (sCHD), 41 compound CHD (cCHD) and 90 non-isolated CHD (niCHD) were recruited into the study. 28 cases (16.77%, 28/167) were revealed with chromosomal abnormalities at the level of karyotype. The pathogenic detection rate (DR) of CNV-seq (23.17%, 19/82) was higher than that of karyotyping (15.85%, 13/82) in 82 cases by CNV-seq and karyotyping simultaneously. The DR of pathogenic copy number variations (PCNVs) (31.43%) was higher in niCHD subgroup than that in sCHD and cCHD (9.52% and 23.08%). Conotruncal defect (CTD) was one of the most common heart malformations with the highest DR of PCNVs (50%) in 7 categories of CHD. In terms of all the pregnancy outcomes, 67 (40.12%) cases were terminated and 100 (59.88%) cases were live neonates. Only two among 34 cases with a pathogenic genetic result chose to continue the pregnancy. CONCLUSIONS: CNV-seq combined with karyotyping is a reliable and accurate prenatal technique for identifying pathogenic chromosomal abnormalities associated with fetal CHD with or without extracardiac abnormalities, which can assist clinicians to perform detailed genetic counselling with regard to the etiology and related outcomes of CHD.

14.
Front Pharmacol ; 15: 1347130, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38362145

RESUMEN

Introduction: Elderly patients are more prone to develop acute kidney injury during infections and polymyxin B (PMB)-associated nephrotoxicity than young patients. The differential response to PMB between the elderly and young critically ill patients is unknown. We aimed to assess PMB exposure in elderly patients compared with young critically ill patients, and to determine the covariates of PMB pharmacokinetics in critically ill patients. Methods: Seventeen elderly patients (age ≥ 65 years) and six young critically ill patients (age < 65 years) were enrolled. Six to eight blood samples were collected during the 12 h intervals after at least six doses of intravenous PMB in each patient. PMB plasma concentrations were quantified by high-performance liquid chromatography-tandem mass spectrometry. The primary outcome was PMB exposure as assessed by the area under the concentration-time curve over 24 h at steady state (AUCss, 0-24 h). Results and Discussion: The elderly group had lower total body weight (TBW) and higher Charlson comorbidity scores than young group. Neither AUCss, 0-24 h nor normalized AUCss, 0-24 h (adjusting AUC for the daily dose in mg/kg of TBW) was significantly different between the elderly group and young group. The half-life time was longer in the elderly patients than in young patients (11.21 vs 6.56 h respectively, p = 0.003). Age and TBW were the covariates of half-life time (r = 0.415, p = 0.049 and r = -0.489, p = 0.018, respectively). TBW was the covariate of clearance (r = 0.527, p = 0.010) and AUCss, 0-24 h (r = -0.414, p = 0.049). Patients with AUCss, 0-24 h ≥ 100 mg·h/L had higher baseline serum creatinine levels and lower TBW than patients with AUCss, 0-24 h < 50 mg·h/L or patients with AUCss, 0-24 h 50-100 mg·h/L. The PMB exposures were comparable in elderly and young critically ill patients. High baseline serum creatinine levels and low TBW was associated with PMB overdose. Trial registration: ChiCTR2300073896 retrospectively registered on 25 July 2023.

15.
J Environ Sci (China) ; 25(11): 2169-76, 2013 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-24552044

RESUMEN

Addition of H202 has been employed to repress bromate formation during ozonation of bromide-containing source water. However, the addition of H2O2 will change the oxidation pathways of organic compounds due to the generation of abundant hydroxyl radicals, which could affect the removal efficacy of trihalomethane precursors via the combination of ozone and biological activated carbon (O3-BAC). In this study, we evaluated the effects of H2O2 addition on bromate formation and trihalomethane formation potential (THMFP) reduction during treatment of bromide-containing (97.6-129.1 microg/L) source water by the O3-BAC process. At an ozone dose of 4.2 mg/L, an H2O2/O3 (g/g) ratio of over 1.0 was required to maintain the bromate concentration below 10.0 microg/L, while a much lower H2O2/O3 ratio was sufficient for a lower ozone dose. An H2O2/O3 (g/g) ratio below 0.3 should be avoided since the bromate concentration will increase with increasing H2O2 dose below this ratio. However, the addition of H202 at an ozone dose of 3.2 mg/L and an H2O2/O3 ratio of 1.0 resulted in a 43% decrease in THMFP removal when comparedwith the O3-BAC process. The optimum H2O2/O3 (g/g) ratio for balancing bromate and trihalomethane control was about 0.7-1.0. Fractionation of organic materials showed that the addition of H2O2 decreased the removal efficacy of the hydrophilic matter fraction of DOC by ozonation and increased the reactivity of the hydrophobic fractions during formation of trihalomethane, which may be the two main reasons responsible for the decrease in THMFP reduction efficacy. Overall, this study clearly demonstrated that it is necessary to balance bromate reduction and THMFP control when adopting an H2O2 addition strategy.


Asunto(s)
Bromuros/química , Agua Potable/química , Trihalometanos/química , Contaminantes Químicos del Agua/química , Purificación del Agua/métodos , Peróxido de Hidrógeno/química , Oxidación-Reducción
16.
Medicine (Baltimore) ; 102(7): e33014, 2023 Feb 17.
Artículo en Inglés | MEDLINE | ID: mdl-36800618

RESUMEN

RATIONALE: Lissencephaly (LIS) is a rare and serious cortical malformation characterized by a smooth or nearly smooth brain surface. With the progress of molecular genetics, platelet-activating factor acetylhydrolase brain isoform Ib is the most frequent type during the fetal period. Here, we report an infant with LIS who was missed although undergoing prenatal diagnosis. We aim to share our experiences and lessons. PATIENT CONCERNS: A 2-month-old male infant presented recurrent convulsions. Karyotype and copy number variation sequencing were conducted to be normal at the 23-week gestation because of bipedal varus and ventricular septal defect (2.3 mm). After birth, he suffered from epilepsy confirmed by video electroencephalogram exam, meanwhile, computed tomography and magnetic resonance imaging revealed pachygyria. The infant was diagnosed with LIS carrying a de-novo mutation c.817 C > T (p.Arg273 Ter,138) in exon 8 of platelet-activating factor acetylhydrolase brain isoform Ib (NM_000430) detected by whole-exome sequencing. DIAGNOSES: Based on the clinical characteristics, imaging, and genetic test findings, the infant was diagnosed with LIS. INTERVENTIONS: The patient was treated with topiramate and dose was adjusted according to the seizure frequency. OUTCOMES: The infant had recurrent seizures. The muscle tone of his extremities increased, and he could not look up or turn over actively at the age of 6 months. LESSONS: Comprehensive evaluation of a multi-disciplinary team should be recommended for patients with epilepsy and cerebral hypoplasia. Individuals with LIS during the fetal period might be missed due to atypical features. In fetuses with structural abnormalities, if karyotype and copy number variation sequencing are both normal, whole-exome sequencing may be an effective complementary means to detect pathogenic variants.


Asunto(s)
Variaciones en el Número de Copia de ADN , Lisencefalia , Lactante , Embarazo , Femenino , Humanos , Masculino , Diagnóstico Erróneo , Lisencefalia/diagnóstico , Lisencefalia/genética , Encéfalo , Diagnóstico Prenatal/métodos , Convulsiones , 1-Alquil-2-acetilglicerofosfocolina Esterasa/genética
17.
World J Clin Cases ; 11(19): 4698-4706, 2023 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-37469734

RESUMEN

BACKGROUND: Subcutaneous emphysema is a well-known complication of oral surgery, especially during mandibular wisdom tooth extraction. However, subcutaneous emphysema secondary to dental procedures such as crown preparation is rare. The main symptom of emphysema is swelling and crepitus on palpation. Uncontrolled emphysema may spread along the fascial planes and cause deep space infections or a pneumomediastinum. CASE SUMMARY: In this paper, we report a 34-year-old female who underwent upper molar tooth preparation for crowns and subsequently developed extensive subcutaneous emphysema on the retromandibular angle on two different occasions. The treatment plan for this patient involved close observation of the airway, and administration of dexamethasone and antibiotics via intravenous drip or orally. Ice bag compression was quickly applied and medication was prescribed to alleviate discomfort and promote healing. Although the main reason is unclear, the presence of a fissure in the molar is an important clue which may contribute to the development of subcutaneous emphysema during crown preparation. It is imperative for dental professionals to recognize such pre-disposing factors in order to minimize the risk of complications. CONCLUSION: This case highlights the need for prompt diagnosis and management of subcutaneous emphysema because of the risk of much more serious complications. Awareness of relatively "benign" subcutaneous emphysema during any dental procedure is critical not only for inexperienced dentists, but also for those who work in rural and remote settings as members of surgical teams. In this study, we review the clinical presentation, mechanism, and differential diagnosis of subcutaneous emphysema.

18.
Case Rep Genet ; 2023: 9127512, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36938529

RESUMEN

The female characters with a 46, XY karyotype, historically termed Swyer syndrome, are commonly divided into complete and partial gonadal dysgenesis. The former is completely made up of the 46, XY chromosome, while the latter results from 45, X/46, XY mosaicism. Both of them are sex chromosome disorders and are typically characterized by delayed puberty and primary amenorrhea due to disruption of the embryonic gonads into testes. In this report, we described a young female with mos 45, X [2]/46, X, psu idic (Y) (q11.2) [48] by karyotyping. Further copy number variation sequencing (CNV-seq) and fluorescent in situ hybridization (FISH) verified her chromosome alteration. The following gonadectomy and hormone replacement therapy were carried out, and the menstrual cycle recovered along with the development of bilateral breasts and uteruses. Herein, we aim to provide clinical management strategies for the patient with Swyer syndrome in clinical practice.

19.
Ann Palliat Med ; 12(3): 561-570, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37211785

RESUMEN

BACKGROUND: Unplanned extubation is a common adverse event and an important indicator of quality and safety of care. It is well recognized that the incidence of unplanned extubation of nasogastric/nasoenteric tubes is higher than that of other devices. Theory and previous research have suggested that cognitive bias in conscious patients with nasogastric/nasoenteric tubes may lead to unplanned extubation, and that social support, anxiety, and hope are influencing factors of cognitive bias. Therefore, the objective of this study was to investigate the effects of social support, anxiety, and hope levels on cognitive bias in patients with nasogastric/nasoenteric tubes. METHODS: In this cross-sectional study, 438 patients with nasogastric/nasoenteric tubes were selected from 16 hospitals in Suzhou from December 2019 to March 2022 by convenience sampling method. The participants were assessed using the General Information Questionnaire, Perceived Social Support Scale, Generalized Anxiety Disorder-7, Herth Hope Index, and Cognitive Bias Questionnaire for patients with nasogastric/nasoenteric tubes. The structural equation model was established with AMOS 22.0 software. RESULTS: The cognitive bias score of patients with nasogastric/nasoenteric tubes was 2.82±0.61. Patients' perceived levels of social support and hope were negatively correlated with their cognitive bias (r=-0.395 and -0.427, respectively, P<0.05), and anxiety was positively correlated with cognitive bias (r=0.446, P<0.05). Structural equation model analysis showed that anxiety had a direct positive effect on cognitive bias, with an effect value of 0.35 (P<0.001), and hope level had a direct negative effect on cognitive bias with an effect value of -0.33 (P<0.001). Social support had a direct negative effect on cognitive bias and was also shown to indirectly affect cognitive bias through anxiety and hope levels. The effect values were -0.22, -0.12, and -0.19 (P<0.001), for social support, anxiety, and hope, respectively. Social support, anxiety, and hope explained 46.2% of the total variation in cognitive bias. CONCLUSIONS: Moderate cognitive bias is noted in patients with nasogastric/nasoenteric tubes, and social support significantly affects cognitive bias. Anxiety and hope level play a mediating role in social support and cognitive bias. Positive psychological intervention and the obtention of positive support could improve the cognitive bias of patients with nasogastric/nasoenteric tubes.


Asunto(s)
Trastornos de Ansiedad , Ansiedad , Humanos , Estudios Transversales , Ansiedad/etiología , Apoyo Social , Cognición
20.
Am J Transl Res ; 15(5): 3674-3685, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37303685

RESUMEN

OBJECTIVE: This study aimed to comprehensively evaluate perianal fistulas and their related complications using magnetic resonance imaging (MRI). METHODS: We enrolled 115 eligible patients who underwent preoperative perianal MRI. Primary fistulas, internal and external openings, and related complications were evaluated using MRI. All fistulas were classified according to Park's classification, Standard Practice Task Force classification, St. James's grade, and the position of the internal opening. RESULTS: In total, 169 primary fistulas were detected in 115 patients; 73 (63.5%) patients had a single primary tract and 42 (36.5%) patients had multiple primary tracts, and 198 internal and 129 external openings were identified. Based on Park's classification, 150 (88.7%) primary fistulas were classified into the following types: intersphincteric (82, 54.7%), trans-sphincteric (58, 38.6%), suprasphincteric (8, 5.3%), extrasphincteric (1, 0.7%), and diffuse intersphincteric with trans-sphincteric (1, 0.7%) types. Based on St. James's grade, 149 fistulas were classified into grade 1 (52, 34.9%), grade 2 (30, 20.1%), grade 3 (20, 13.4%), grade 4 (38, 25.5%), and grade 5 (9, 6.1%). We detected 92 (54.4%) simple and 77 (45.6%) complex perianal fistulas and 72 (42.6%) high and 97 (57.4%) low perianal fistulas. Furthermore, we detected 32 secondary tracts in 23 (20.0%) patients and 87 abscesses in 60 (52.2%) patients. Levator ani muscle involvement and extensive soft tissue edema were detected in 12 (10.4%) and 24 (20.9%) patients, respectively. CONCLUSION: MRI is a valuable and comprehensive tool that can not only be used to determine the general condition of perianal fistulas but also to classify them and identify related complications.

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