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1.
Fetal Diagn Ther ; 2024 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-38815555

RESUMEN

INTRODUCTION: This study aimed to evaluate the occurrence of clinically relevant (sub)microscopic chromosomal aberrations in fetuses with the NT range from 3.0 to 3.4 mm, which would be potentially missed by cfDNA testing. METHODS: A retrospective data analysis of 271 fetuses with NT between 3.0 and 3.4 mm and increased combined test (CT) risk in five cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed. RESULTS: A chromosomal aberration was identified in 18.8% fetuses (1:5; 51/271). In 15% (41/271) of cases trisomy 21, 18, or 13 was found. In 0.7% (2/271) sex chromosome aneuploidy was found. In 1.1% (3/271) of cases, CNV>10Mb was detected, which would potentially also be detected by genome-wide cfDNA testing. The residual risk for missing a submicroscopic chromosome aberration in the presented cohorts is 1.8% (1:54; 5/271). CONCLUSION: Our results indicate that a significant number of fetuses with increased CT risk and presenting NT of 3.0-3.4 mm carry a clinically relevant chromosomal abnormality other than common trisomy. Invasive testing should be offered and counseling on NIPT should include the test limitations that may result in NIPT false negative results in a substantial percentage of fetuses.

2.
Ann Agric Environ Med ; 31(1): 13-23, 2024 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-38549472

RESUMEN

INTRODUCTION AND OBJECTIVE: Smog, which contains fine dusts, non-metal oxides, metals and organic compounds can have irritating, allergenic and immunomodulatory effects leading to the development of respiratory diseases and their exacerbations. The aim of the study was to search for a relationship between concentrations of air pollutants and the frequency of hospitalizations due to exacerbation of asthma, chronic obstructive pulmonary disease, or abnormalitis in breathing. MATERIAL AND METHODS: Hospital admission data was accessed from the hospital digital in-formation system. From the publicly available database of the Chief Inspectorate for Environmental Protection, data concerning the concentrations of pollutants, such as PM2.5 and PM10, sulphur oxide IV (SO2), nitric oxide IV (NO2), carbon monoxide II (CO), benzene and ozone (O3), measured daily with hourly accuracy was used. The results of the average concentrations of air pollutants were compared with the rates of hospitalization in the corresponding time intervals. RESULTS: A number of statistically significant correlations were shown indicating the role of increased concentrations of each of the tested contaminants in the frequency of hospitalizations. In particular, strongly positive correlations were shown between the frequency of hospitalizations due to COPD and PM2.5 and PM10, asthma with benzene and NO2, and for respiratory disorders in general with benzene, CO and SO2. CONCLUSIONS: The results indicate that air pollution can be a significant modifiable risk factor for exacerbations of respiratory diseases and therefore its avoidance plays an important role in primary prevention.


Asunto(s)
Contaminantes Atmosféricos , Contaminación del Aire , Asma , Enfermedad Pulmonar Obstructiva Crónica , Enfermedades Respiratorias , Humanos , Contaminantes Atmosféricos/efectos adversos , Contaminantes Atmosféricos/análisis , Dióxido de Nitrógeno , Benceno , Contaminación del Aire/efectos adversos , Contaminación del Aire/análisis , Hospitalización , Asma/epidemiología , Asma/etiología , Material Particulado/efectos adversos , Material Particulado/análisis
3.
Pharmaceuticals (Basel) ; 16(12)2023 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-38139817

RESUMEN

Two polyphenols-hyperoside (HYP) and protocatechuic acid (PCA) were reported to exert antidepressant activity in rodents after acute treatment. Our previous study also showed that this activity might have been influenced by the monoaminergic system and the upregulation of the brain-derived neurotropic factor (BDNF) level. A very long-term pharmacological therapy is required for the treatment of a patient with depression. The repetitive use of antidepressants is recognized to impact the brain structures responsible for regulating both emotional and cognitive behaviors. Thus, we investigated the antidepressant, anxiolytic, and procognitive effects of HYP and PCA in mice after acute and prolonged treatment (14 days). Both polyphenols induced an anxiogenic-like effect after acute treatment, whereas an anxiolytic effect occurred after repetitive administration. PCA and HYP showed procognitive effects when they were administered acutely and chronically, but it seems that their influence on long-term memory was stronger than on short-term memory. In addition, the preset study showed that the dose of 7.5 mg/kg of PCA and HYP was effective in counteracting the effects of co-administered scopolamine in the long-term memory impairment model induced by scopolamine. Our experiments revealed the compounds have no affinity for 5-HT1A and 5-HT2A receptors, whereas a significant increase in serum serotonin level after prolonged administration of PCA and HYP at a dose of 3.75 mg/kg was observed. Thus, it supports the involvement of the serotonergic system in the polyphenol mechanisms. These findings led us to hypothesize that the polyphenols isolated from Impatiens glandulifera can hold promise in treating mental disorders with cognitive dysfunction. Consequently, extended studies are necessary to delve into their pharmacological profile.

4.
Int J Mol Sci ; 24(11)2023 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-37298138

RESUMEN

The treatment of acne and other seborrheic diseases has arisen as a significant clinical challenge due to the increasing appearance of multi-drug resistant pathogens and a high frequency of recurrent lesions. Taking into consideration the fact that some Knautia species are valuable curatives in skin diseases in traditional medicine, we assumed that the thus far unstudied species K. drymeia and K. macedonica may be a source of active substances used in skin diseases. The purpose of this study was to evaluate the antioxidant, anti-inflammatory, antibacterial, and cytotoxic activities of their extracts and fractions. An LC-MS analysis revealed the presence of 47 compounds belonging to flavonoids and phenolic acids in both species while the GC-MS procedure allowed for the identification mainly sugar derivatives, phytosterols, and fatty acids and their esters. The ethanol as well as methanol-acetone-water (3:1:1) extracts of K. drymeia (KDE and KDM) exhibited great ability to scavenge free radicals and good capacity to inhibit cyclooxygenase-1, cyclooxygenase-2, and lipoxygenase. Moreover, they had the most favorable low minimal inhibitory concentration values against acne strains, and importantly, they were non-toxic toward normal skin fibroblasts. In conclusion, K. drymeia extracts seem to be promising and safe agents for further biomedical applications.


Asunto(s)
Dipsacaceae , Enfermedades de la Piel , Humanos , Extractos Vegetales/química , Antibacterianos/farmacología , Medicina Tradicional , Antioxidantes/farmacología , Antioxidantes/química
5.
Int J Mol Sci ; 24(12)2023 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-37373441

RESUMEN

Chronic wounds, among others, are mainly characterized by prolonged inflammation associated with the overproduction of reactive oxygen species and pro-inflammatory cytokines by immune cells. As a consequence, this phenomenon hinders or even precludes the regeneration process. It is known that biomaterials composed of biopolymers can significantly promote the process of wound healing and regeneration. The aim of this study was to establish whether curdlan-based biomaterials modified with hop compounds can be considered as promising candidates for the promotion of skin wound healing. The resultant biomaterials were subjected to an evaluation of their structural, physicochemical, and biological in vitro and in vivo properties. The conducted physicochemical analyses confirmed the incorporation of bioactive compounds (crude extract or xanthohumol) into the curdlan matrix. It was found that the curdlan-based biomaterials improved with low concentrations of hop compounds possessing satisfactory hydrophilicity, wettability, porosity, and absorption capacities. In vitro, tests showed that these biomaterials were non-cytotoxic, did not inhibit the proliferation of skin fibroblasts, and had the ability to inhibit the production of pro-inflammatory interleukin-6 by human macrophages stimulated with lipopolysaccharide. Moreover, in vivo studies showed that these biomaterials were biocompatible and could promote the regeneration process after injury (study on Danio rerio larvae model). Thus, it is worth emphasizing that this is the first paper demonstrating that a biomaterial based on a natural biopolymer (curdlan) improved with hop compounds may have biomedical potential, especially in the context of skin wound healing and regeneration.


Asunto(s)
Hidrogeles , beta-Glucanos , Humanos , Hidrogeles/farmacología , Hidrogeles/química , Cicatrización de Heridas , Materiales Biocompatibles/farmacología , beta-Glucanos/farmacología , Biopolímeros , Piel
6.
Ann Agric Environ Med ; 30(2): 224-228, 2023 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-37387370

RESUMEN

INTRODUCTION AND OBJECTIVE: Thoracocentesis is an invasive procedure routinely performed in the diagnosis of causes for the presence of pathological fluid in the pleural cavity. In many patients, a computed tomography scanning (CT) is also performed to diagnose the cause of the presence of fluid in the pleural cavity. The diagnostic value of CT is particularly high in situations in which performing thoracocenthesis could be associated with an increased risk of complications. The aim other study was to assess the relationship between the objective radiological features and the results of laboratory tests of fluid collected by thoracocenthesis in patients with pneumo-nias (n=18) and lung cancer (n=35). MATERIAL AND METHODS: The examined group consisted of the patients with pneumonia (n=18) and lung cancer (n=35) which resulted in the presence of fluid in the pleural cavity. In the patients thoracocentesis, CT lung scanning was also performed, according to the medical indications. Three scans with the greatest amount of fluid were identified, and the mean density of the fluid expressed in Hounsfield units was calculated within the area. These calculations were compared with the results of laboratory fluid tests. RESULTS: The maximum number of Hounsfield units (HU) was significantly lower in the group of lung cancer patients, compared to those diagnosed with pneumonia (74.3% sensi-tivity and 55.6% specificity). The pH of pleural fluid was significantly lower in patients with lung cancer, compared to those with pneumonia (74.3% sensitivity and 66.7% specificity). CONCLUSIONS: According to the results, radiological differentiation of pneumonia and lung cancer resulting in pleural effusion, to some extent is possible; however, the needle is still needed.


Asunto(s)
Neoplasias Pulmonares , Derrame Pleural , Neumonía , Humanos , Derrame Pleural/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Neumonía/diagnóstico por imagen , Pulmón
7.
Sci Rep ; 13(1): 9142, 2023 06 05.
Artículo en Inglés | MEDLINE | ID: mdl-37277512

RESUMEN

The purpose of our study was to evaluate the composition of the extracts obtained from the roots and leaves of Eutrema japonicum cultivated in Poland. For this purpose, LC-DAD-IT-MS and LC-Q-TOF-MS analyses were used. The results revealed the presence of forty-two constituents comprising glycosinolates, phenylpropanoid glycosides, flavone glycosides, hydroxycinnamic acids, and other compounds. Then, the resultant extracts were subjected to an assessment of the potential cytotoxic effect on human colon adenocarcinoma cells, the effect on the growth of probiotic and intestinal pathogenic strains, as well as their anti-inflammatory activity. It was demonstrated that 60% ethanol extract from the biennial roots (WR2) had the strongest anti-inflammatory, antibacterial, and cytotoxic activities compared to the other samples. Our results suggest that extracts from E. japonicum may be considered as a promising compound for the production of health-promoting supplements.


Asunto(s)
Adenocarcinoma , Neoplasias del Colon , Wasabia , Humanos , Neoplasias del Colon/tratamiento farmacológico , Hojas de la Planta/química , Extractos Vegetales/química , Glicósidos/análisis , Antiinflamatorios/farmacología , Antiinflamatorios/análisis
8.
Curr Issues Mol Biol ; 45(5): 4431-4450, 2023 May 18.
Artículo en Inglés | MEDLINE | ID: mdl-37232751

RESUMEN

Rapeseed is one of the most important oil crops in the world. Increasing demand for oil and limited agronomic capabilities of present-day rapeseed result in the need for rapid development of new, superior cultivars. Double haploid (DH) technology is a fast and convenient approach in plant breeding as well as genetic research. Brassica napus is considered a model species for DH production based on microspore embryogenesis; however, the molecular mechanisms underlying microspore reprogramming are still vague. It is known that morphological changes are accompanied by gene and protein expression patterns, alongside carbohydrate and lipid metabolism. Novel, more efficient methods for DH rapeseed production have been reported. This review covers new findings and advances in Brassica napus DH production as well as the latest reports related to agronomically important traits in molecular studies employing the double haploid rapeseed lines.

9.
Front Oncol ; 13: 1134772, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36865795

RESUMEN

Introduction: Patients with stage 3 neuroblastoma (NBL) according to International Neuroblastoma Staging System (INSS) without MYCN amplification represent a heterogenous group with respect to disease presentation and prognosis. Methods: Retrospective analysis of 40 stage 3 patients with NBL without MYCN amplification was performed. The prognostic value of age at diagnosis (under 18 vs over 18 months), International Neuroblastoma Pathology Classification (INPC) diagnostic category and presence of segmental or numerical chromosomes aberrations were evaluated, as well as biochemical markers. Array comparative genomic hybridization (aCGH) for analyzing copy number variations and Sanger sequencing for ALK point mutations were done. Results: In 12 patients (two patients under 18 months), segmental chromosomal aberrations (SCA) were found and numerical chromosomal aberrations (NCA) were found in 16 patients (14 patients under 18 months). In children over 18 months SCA were more common (p=0.0001). Unfavorable pathology was significantly correlated with SCA genomic profile (p=0.04) and age over 18 months (p=0.008). No therapy failures occurred in children with NCA profile over or under 18 months or in children under 18 months, irrespective of pathology and CGH results. Three treatment failures occurred in the SCA group, in one patient CGH profile was not available. For the whole group at 3, 5 and 10-year OS and DFS were 0.95 (95% CI 0.81-0.99), 0.91 (95% CI 0.77-0.97) and 0.91 (95% CI 0.77-0.97), and 0.95 (95% CI 0.90-0.99), 0.92 (95% CI 0.85-0.98) and 0.86 (95% CI 0.78-0.97), respectively. DFS was significantly lower in the SCA group than in the NCA group (3-years, 5-years, and 10-years DFS 0.92 (95% CI 0.53-0.95), 0.80 (95% CI 0.40-0.95) and 0.60 (95% CI 0.16-0.87) vs 1.0, 1.0 and 1.0, respectively, p=0.005). Conclusions: The risk of treatment failure was higher in patients with SCA profile, but only in patients over 18 months. All relapses occurred in children having obtained the complete remission, with no previous radiotherapy. In patients over 18 months, SCA profile should be taken into consideration for therapy stratification as it increases the risk of relapse and this group may require more intensive treatment.

10.
Plants (Basel) ; 12(4)2023 Feb 16.
Artículo en Inglés | MEDLINE | ID: mdl-36840233

RESUMEN

Propolis and its extracts show a wide spectrum of biological activity. Due to the necessity to use high temperatures and high polarity in the eluent, the obtained extracts are depleted of active compounds. The new, cold separation method allows obtaining a qualitatively better product containing a number of chemical compounds absent in extracts obtained using high-temperature methods. The purpose of our study was to evaluate the biological activity of propolis extracts produced with the cold separation method in four female breast cancer cell lines: MDA-MB-231, MDA-MB-468, MCF-7, and T-47D. The results of the breast cancer cell viability were obtained using the MTT test. Propolis extracts at 75 and 80% showed similar cytotoxicity against cancer cells, with the polyphenol fraction 75% being slightly more negative for cells. Propolis extracts at concentrations of 50, 75, and 100 µg/mL significantly reduced cell viability. With the exception of the MDA-MB-231 line, cell viability was also decreased after incubation with a concentration of 25 µg/mL. Our results suggest that propolis extracts obtained with the cold separation method may be considered as promising compounds for the production of health-promoting supplements.

11.
Molecules ; 27(23)2022 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-36500338

RESUMEN

Plant extracts are increasingly tested for their biological activity and interactions with neoplastic cells. One of such sources of biologically active substances is propolis. This product has been known for thousands of years and is widely used in alternative, folk medicine. Articles describing its effects on the metabolism and cell signaling pathways of neoplastic cells derived from different organs are also published more and more frequently. The purpose of our study was to evaluate the biological activity of propolis extract produced with the cold separation method into hormone-dependent and hormone-independent prostate cancer cell lines. In our study, the propolis extracts showed at least an inhibitory effect on the growth of PC-3 and DU-145 neoplastic cells. Our results suggest that propolis extracts obtained with the cold separation method may be considered as promising compounds for the production of health-promoting supplements.


Asunto(s)
Própolis , Neoplasias de la Próstata , Masculino , Humanos , Própolis/farmacología , Proliferación Celular , Extractos Vegetales/farmacología , Neoplasias de la Próstata/tratamiento farmacológico , Línea Celular , Hormonas/farmacología
12.
Plants (Basel) ; 11(20)2022 Oct 13.
Artículo en Inglés | MEDLINE | ID: mdl-36297733

RESUMEN

The genus Alchemilla, belonging to the Rosaceae family, is a rich source of interesting secondary metabolites, including mainly flavonoids, tannins, and phenolic acids, which display a variety of biological activities, such as anti-inflammatory, antimicrobial, and antioxidant. Alchemilla species are used in traditional medicine for treatment of acute diarrhea, wounds, dysmenorrhea, and menorrhagia. In this review, we focus on the phenolic compound composition and antioxidative activity of Alchemilla species. We can assume that phytomedicine and natural products chemistry are of significant importance due to the fact that extract combinations with various bioactive compounds possess the activity to protect the human body rather than disturb damaging factors.

13.
Artículo en Inglés | MEDLINE | ID: mdl-36011653

RESUMEN

This retrospective cohort study comprehensively evaluates cardiovascular anomalies (CVAs) and associated extracardiac structural malformations (ECMs) among 1005 fetuses undergoing invasive prenatal testing at a single tertiary Polish center in the context of chromosomal aberrations detected in them by array comparative genomic hybridization (aCGH) and G-band karyotyping. The results of our study show that CVAs are among the most common malformations detected in fetuses undergoing invasive prenatal testing, as they affected 20% of all cases seen in our department. Septal defects predominated among fetuses with numerical aberrations, while conotruncal defects were the most common findings among fetuses with pathogenic copy number variants (CNVs). In 61% of cases, CVAs were associated with ECMs (the diagnosis was confirmed postnatally or in cases of pregnancy termination by means of autopsy). The most common ECMs were anomalies of the face and neck, followed by skeletal defects. In total, pathogenic chromosomal aberrations were found in 47.5% of CVAs cases, including 38.6% with numerical chromosomal aberrations. Pathogenic CNVs accounted for 14.5% of cases with CVAs and normal karyotype. Thus, our study highlights the importance of assessing the anatomy of the fetus, and of the genetic testing (preferably aCGH) that should be offered in all CVA and ECM cases.


Asunto(s)
Cardiopatías Congénitas , Diagnóstico Prenatal , Aberraciones Cromosómicas , Estudios de Cohortes , Hibridación Genómica Comparativa/métodos , Femenino , Feto , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Humanos , Embarazo , Diagnóstico Prenatal/métodos , Estudios Retrospectivos
14.
Molecules ; 27(9)2022 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-35566257

RESUMEN

This study aimed to evaluate the phenolic profile and biological activity of the extracts from the leaves and fruits of Cotoneaster nebrodensis and Cotoneaster roseus. Considering that miscellaneous species of Cotoneaster are thought to be healing in traditional Asian medicine, we assumed that this uninvestigated species may reveal significant therapeutic properties. Here, we report the simultaneous assessment of chemical composition as well as biological activities (antioxidant, anti-inflammatory, antibacterial, and cytotoxic properties) of tested species. Complementary LC-MS analysis revealed that polyphenols (especially flavonoids and proanthocyanidins) are the overriding phytochemicals with the greatest significance in tested biological activities. In vitro chemical tests considering biological activities revealed that obtained results showed different values depending on concentration, extraction solvent as well as phenolic content. Biological assays demonstrated that the investigated extracts possessed antibacterial properties and were not cytotoxic toward normal skin fibroblasts. Given the obtained results, we concluded that knowledge of the chemical composition and biological activities of investigated species are important to achieve a better understanding of the utilization of these plants in traditional medicine and be useful for further research in their application to treat various diseases, such as skin disorders.


Asunto(s)
Acné Vulgar , Rosaceae , Acné Vulgar/tratamiento farmacológico , Antibacterianos/uso terapéutico , Antioxidantes/química , Frutas/química , Fenoles/análisis , Fenoles/farmacología , Extractos Vegetales/química , Hojas de la Planta/química , Rosaceae/química
15.
Cells ; 11(9)2022 04 20.
Artículo en Inglés | MEDLINE | ID: mdl-35563701

RESUMEN

The aim of our research was to describe the structure and growth potential of a cell suspension of the tree fern Cyathea smithii. Experiments were performed on an established cell suspension with ½ MS medium supplemented with 9.05 µM 2,4-D + 0.88 µM BAP. In the experiments, attention was paid to the microscopic description of cell suspension, evaluation of cell growth dependent on the initial mass of cells and organic carbon source in the medium, the length of the passage, the content of one selected flavonoid in the post-culture medium, nuclear DNA content, ethylene production, and the antimicrobial value of the extract. For a better understanding of the cell changes that occurred during the culture of the suspension, the following structures of the cell were observed: nucleus, lipid bodies, tannin deposits, starch grains, cell walls, primary lamina, and the filaments of metabolites released into the medium. The nuclear DNA content (acriflavine-Feulgen staining) of cell aggregates distinctly indicated a lack of changes in the sporophytic origin of the cultured cell suspension. The physiological activity of the suspension was found to be high because of kinetics, intensive production of ethylene, and quercetin production. The microbiological studies suggested that the cell suspension possessed a bactericidal character against microaerobic Gram-positive bacteria. A sample of the cell suspension showed bacteriostatic activity against aerobic bacteria.


Asunto(s)
Helechos , Ácido 2,4-Diclorofenoxiacético/metabolismo , Antibacterianos , Biotecnología , Etilenos/metabolismo , Helechos/metabolismo , Suspensiones
16.
Artículo en Inglés | MEDLINE | ID: mdl-35409936

RESUMEN

Exposure to radon is the second most common factor causing lung cancer in smokers and the first among non-smokers. We aimed to measure the impact of the radon exposure on patients with different histological types of advanced lung cancer. The measurement of radon exposure was performed in 102 patients with lung cancer in stage 3B or higher (Poland). There were 78.4% of patients with non-small cell carcinoma and 21.6% of patients with small cell carcinoma. One month radon exposure measurement was performed with trace detectors in order to control whether high radon concentrations (>800 Bq/m3) were found in the homes of patients with cancer diagnosed. Results of the determinations were then compared with the representation of the most common types of lung cancer in the study population. In the analyzed group, the average concentration of radon during the exposure of the detector in the residential premises of the respondents accounted for 69.0 Bq/m3 [37.0−117.0] and had no statistically significant effect on the type of lung cancer developed in patients. The lack of statistical significance may result from the small study group and the accompanying exposure to other harmful components. As the incidence of lung adenocarcinoma is increasing and exposure to tobacco smoke is decreasing, the search for other modifiable causes of lung cancer should be the task in the future.


Asunto(s)
Neoplasias Pulmonares , Neoplasias Inducidas por Radiación , Radón , Estudios de Casos y Controles , Exposición a Riesgos Ambientales/efectos adversos , Vivienda , Humanos , Neoplasias Pulmonares/inducido químicamente , Neoplasias Pulmonares/etiología , Neoplasias Inducidas por Radiación/epidemiología , Polonia/epidemiología , Radón/análisis
17.
Am J Med Genet A ; 188(6): 1848-1852, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35199468

RESUMEN

This is the first report of the concurrent development of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and Crigler-Najjar syndrome type 1 (CNs1) inherited via uniparental disomy of chromosome 2, which are both autosomal recessive pathologies. Through an expanded newborn metabolic panel, a male infant was identified as having an acylcarnitine pattern typical for LCHADD, later confirmed to be caused by a well-characterized pathogenic variant in the HADHA gene located at 2p23. Prolonged non-hematologic jaundice requiring repetitive phototherapy prompted further genetic analysis, leading to the identification of another genetic abnormality consistent with CNs1, which was caused by a novel pathogenic variant in the UGT1A1 gene located at 2q37. The two identified point mutations in chromosome 2 were homozygous and present on separate arms, which indicated potential uniparental disomy. Microarray analysis of the genetic material from the patient and his parents confirmed paternal isodisomy of chromosome 2. Further studies are needed to identify other possible pathogenic variants located on the same defective chromosome, evaluate the combined effect of the two metabolic abnormalities, and plan the best possible treatment and care.


Asunto(s)
Síndrome de Crigler-Najjar , Cardiomiopatías , Cromosomas Humanos Par 2/genética , Síndrome de Crigler-Najjar/genética , Humanos , Lactante , Recién Nacido , Errores Innatos del Metabolismo Lipídico , Masculino , Miopatías Mitocondriales , Proteína Trifuncional Mitocondrial/deficiencia , Enfermedades del Sistema Nervioso , Rabdomiólisis , Disomía Uniparental/genética
18.
Molecules ; 27(3)2022 Jan 18.
Artículo en Inglés | MEDLINE | ID: mdl-35163884

RESUMEN

Liquid chromatography electrospray ionization tandem mass spectrometric (LC-ESI-MS/MS) qualitative and quantitative analysis of different extracts from the aerial parts and roots of Alchemilla acutiloba led to the identification of phenolic acids and flavonoids. To the best of our knowledge, isorhamnetin 3-glucoside, kaempferol 3-rutinoside, narcissoside, naringenin 7-glucoside, 3-O-methylquercetin, naringenin, eriodictyol, rhamnetin, and isorhamnetin were described for the first time in Alchemilla genus. In addition, the antioxidant, anti-inflammatory and cytotoxic activity of all extracts were evaluated. The results clearly showed that among analyzed extracts, the butanol extract of the aerial parts exhibited the highest biological activity comparable with the positive controls used.


Asunto(s)
Alchemilla/química , Antiinflamatorios/farmacología , Antioxidantes/farmacología , Citotoxinas/farmacología , Flavonoides/farmacología , Fenoles/análisis , Extractos Vegetales/análisis , Animales , Cromatografía Liquida , Flavonoides/análisis , Haplorrinos , Riñón/efectos de los fármacos , Riñón/patología , Extractos Vegetales/farmacología , Espectrometría de Masa por Ionización de Electrospray , Espectrometría de Masas en Tándem
19.
Molecules ; 27(4)2022 Feb 13.
Artículo en Inglés | MEDLINE | ID: mdl-35209048

RESUMEN

The aim of the present study was to investigate the phenolic composition and the biological properties of different Aerva lanata (L). Juss. herb extracts obtained with the use of accelerated solvent extraction (ASE), i.e., a green, ecological method, for cosmetic purposes. All samples exhibited high DPPH• (9.17-119.85 mg TE/g) and ABTS•+ (9.90-107.58 mg TE/g) scavenging activity. The extracts exhibited considerable anti-lipoxygenase (EC50 between 1.14 mg/mL and 3.73 mg/mL) and anti-xanthine oxidase (EC50 between 1.28 mg/mL and 3.72 mg/mL) activities, moderate chelating activity (EC50 between 1.58 mg/mL and 5.30 mg/mL), and high antioxidant potential in the ORAC assay (0.36-3.84 mM TE/g). Changes in the polyphenol profile of the analysed samples depending on the solvent and temperature used for the extraction were determined with the liquid chromatography/electrospray mass spectrometry (LC-ESI-MS/MS) method. Twenty-one phenolic compounds, including flavonoids and phenolic acids, were detected and quantified. It was shown that tiliroside was one of the main phenolic metabolites in the A. lanata (L.) Juss. herb., which may suggest that this compound may be largely responsible for the observed anti-inflammatory activity of the extracts. In addition, the studied extracts exhibited promising skin-related (anti-tyrosinase, anti-elastase, anti-collagenase, and anti-hyaluronidase) activity. This study showed that Aerva lanata (L.) Juss. contains high amounts of phenolic compounds, including tiliroside, and has good skin-related activities. Therefore, the plant may be interesting as a novel source of bioactive agents for cosmetic industries.


Asunto(s)
Amaranthaceae/química , Antiinflamatorios/química , Cosméticos/química , Inhibidores Enzimáticos/química , Extractos Vegetales/química , Polifenoles/química
20.
Cells ; 11(3)2022 01 21.
Artículo en Inglés | MEDLINE | ID: mdl-35159177

RESUMEN

In light of current knowledge on the role of reactive oxygen species and other oxidants in skin diseases, it is clear that oxidative stress facilitates inflammation and is an important factor involved in skin diseases, i.e., acne. Taking into consideration the fact that some Cotoneaster plants are valuable curatives in skin diseases in traditional Asian medicine, we assumed that thus far untested species C. hsingshangensis and C. hissaricus may be a source of substances used in skin diseases. The aim of this study was to evaluate the antioxidant, anti-inflammatory, antimicrobial, and cytotoxic activities of their various extracts. LC-MS analysis revealed the presence of 47 compounds (flavonoids, phenolic acids, coumarins, sphingolipids, carbohydrates), while GC-MS procedure allowed for the identification of 42 constituents (sugar derivatives, phytosterols, fatty acids, and their esters). The diethyl ether fraction of C. hsingshangensis (CHs-2) exhibited great ability to scavenge free radicals and good capacity to inhibit cyclooxygenase-1, cyclooxygenase-2, lipoxygenase, and hyaluronidase. Moreover, it had the most promising power against microaerobic Gram-positive strains, and importantly, it was non-toxic toward normal skin fibroblasts. Taking into account the value of the calculated therapeutic index (>10), it is worth noting that CHs-2 can be subjected to in vivo study and constitutes a promising anti-acne agent.


Asunto(s)
Acné Vulgar , Rosaceae , Acné Vulgar/tratamiento farmacológico , Antiinflamatorios/química , Antiinflamatorios/farmacología , Antioxidantes/química , Antioxidantes/farmacología , Extractos Vegetales/química , Extractos Vegetales/farmacología , Rosaceae/química
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