Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 54
Filter
1.
Int J Mol Sci ; 25(6)2024 Mar 13.
Article in English | MEDLINE | ID: mdl-38542225

ABSTRACT

Breast cancer is a growing disease, with a high worldwide incidence and mortality rate among women. Among the various types, the treatment of triple-negative breast cancer (TNBC) remains a challenge. Considering the recent advances in cold atmospheric plasma (CAP) cancer research, our goal was to evaluate efficacy data from studies based on chemotherapy and CAP in TNBC cell lines and animal models. A search of the literature was carried out in the PubMed, Web of Science, Cochrane Library, and Embase databases. Of the 10,999 studies, there were fifty-four in vitro studies, three in vivo studies, and two in vitro and in vivo studies included. MDA-MB-231 cells were the most used. MTT, MTS, SRB, annexin-V/propidium iodide, trypan blue, and clonogenic assay were performed to assess efficacy in vitro, increasing the reliability and comprehensiveness of the data. There was found to be a decrease in cell proliferation after both chemotherapy and CAP; however, different protocol settings, including an extensive range of drug doses and CAP exposure times, were reported. For both therapies, a considerable reduction in tumor volume was observed in vivo compared with that of the untreated group. The treatment of TNBC cell lines with CAP proved successful, with apoptosis emerging as the predominant type of cellular death. This systematic review presents a comprehensive overview of the treatment landscape in chemotherapy and CAP regarding their efficacy in TNBC cell lines.


Subject(s)
Triple Negative Breast Neoplasms , Animals , Female , Humans , Apoptosis , Cell Line, Tumor , Cell Proliferation , Reproducibility of Results , Triple Negative Breast Neoplasms/pathology
2.
Biofactors ; 49(5): 1038-1060, 2023.
Article in English | MEDLINE | ID: mdl-37317790

ABSTRACT

Postbiotics are defined as a "preparation of inanimate microorganisms and/or their components that confers a health benefit on the host." They can be produced by fermentation, using culture media with glucose (carbon source), and lactic acid bacteria of the genus Lactobacillus, and/or yeast, mainly Saccharomyces cerevisiae as fermentative microorganisms. Postbiotics comprise different metabolites, and have important biological properties (antioxidant, anti-inflammatory, etc.), thus their cosmetic application should be considered. During this work, the postbiotics production was carried out by fermentation with sugarcane straw, as a source of carbon and phenolic compounds, and as a sustainable process to obtain bioactive extracts. For the production of postbiotics, a saccharification process was carried out with cellulase at 55°C for 24 h. Fermentation was performed sequentially after saccharification at 30°C, for 72 h, using S. cerevisiae. The cells-free extract was characterized regarding its composition, antioxidant activity, and skincare potential. Its use was safe at concentrations below ~20 mg mL-1 (extract's dry weight in deionized water) for keratinocytes and ~ 7.5 mg mL-1 for fibroblasts. It showed antioxidant activity, with ABTS IC50 of 1.88 mg mL-1 , and inhibited elastase and tyrosinase activities by 83.4% and 42.4%, respectively, at the maximum concentration tested (20 mg mL-1 ). In addition, it promoted the production of cytokeratin 14, and demonstrated anti-inflammatory activity at a concentration of 10 mg mL-1 . In the skin microbiota of human volunteers, the extract inhibited Cutibacterium acnes and the Malassezia genus. Shortly, postbiotics were successfully produced using sugarcane straw, and showed bioactive properties that potentiate their use in cosmetic/skincare products.


Subject(s)
Saccharomyces cerevisiae , Saccharum , Humans , Saccharomyces cerevisiae/metabolism , Fermentation , Saccharum/metabolism , Antioxidants/pharmacology , Antioxidants/metabolism , Anti-Inflammatory Agents/metabolism , Carbon/metabolism
3.
Blood Purif ; 52(4): 366-372, 2023.
Article in English | MEDLINE | ID: mdl-36702111

ABSTRACT

INTRODUCTION: Exit-site infection (ESi) prevention is a key factor in lowering the risk of peritonitis. This study aimed to evaluate the associations between exit-site (ES) care protocols and the annual incidence rates of ESi and peritonitis in Portugal. METHODS: We performed a national survey using two questionnaires: one about the incidence of catheter-related infections and the other characterizing patients' education and ES care protocols. RESULTS: In 2017 and 2018, 14 Portuguese units followed 764 and 689 patients. ESi incidence rate was 0.41 episodes/year, and the peritonitis incidence rate was 0.37. All units monitor catheter-related infections on a yearly basis, use antibiotic prophylaxis at the time of catheter placement, and treat nasal carriage of S. aureus, although with different approaches. Screening for nasal carriage of S. aureus is performed by 12 units, and daily topical antibiotic cream is recommended by 6 out of 14 of the units. We did not find statistical differences in ESi/peritonitis, comparing these practices. The rate of ESis was lower with nonocclusive dressing immediately after catheter insertion, bathing without ES dressing, with the use of colostomy bags in beach baths and was higher with the use of bath sponge. The peritonitis rate was lower with bathing without ES dressing and if shaving of the external cuff was performed in the presence of chronic ESi. CONCLUSIONS: We found potential proceedings associated with ESi and peritonitis. A regular national audit of peritoneal dialysis units is an important tool for clarifying the best procedures for reduction of catheter-related infections.


Subject(s)
Catheter-Related Infections , Peritoneal Dialysis , Peritonitis , Humans , Mupirocin , Portugal , Catheter-Related Infections/etiology , Staphylococcus aureus , Catheters, Indwelling/adverse effects , Administration, Topical , Renal Dialysis/adverse effects , Anti-Bacterial Agents , Peritoneal Dialysis/adverse effects , Peritonitis/etiology
4.
Microb Ecol ; 86(1): 86-96, 2023 Jul.
Article in English | MEDLINE | ID: mdl-35809121

ABSTRACT

Skin harbors an important microbial ecosystem - the skin microbiota that is in homeostasis with its host and is beneficial for human health. Cosmetic products have the potential to interfere with this microbial community; therefore their impact should be assessed. The aim of this review is to highlight the importance of skin microbiota in the cosmetic industry. Several studies determined that cosmetic ingredients have the potential to disrupt the skin microbiota equilibrium leading to the development of skin diseases and dysregulation of immune response. These studies led their investigation by using different methodologies and models, concluding that methods must be chosen according to the aim of the study, the skin site to be evaluated, and the target population of the cosmetics. Overall, it is crucial to test the impact of cosmetics in the skin microbiota and to stablish standard procedures, as well as specific criteria that allow to classify a cosmetic product as skin microbiota friendly.


Subject(s)
Cosmetics , Host Microbial Interactions , Microbiota , Skin , Humans , Cosmetics/pharmacology , Homeostasis , Microbiota/drug effects , Skin/microbiology , Host Microbial Interactions/drug effects , Industry/standards , Industry/trends
5.
Antioxidants (Basel) ; 13(1)2023 Dec 27.
Article in English | MEDLINE | ID: mdl-38247472

ABSTRACT

Sugarcane straw (Saccharum officinarum) is a valuable coproduct renowned for its abundant polyphenolic content. However, extracting these polyphenols for natural ingredients faces challenges due to their inherent variability, influenced by biotic stress factors and plant characteristics. We explored the impact of five crucial factors on sugarcane straw polyphenolic diversity: (i) production area (Guariba, Valparaíso), (ii) borer insect (Diatraea saccharalis) infestation, (iii) plant age (first to seventh harvest), (iv) harvest season, and (v) plant variety. Response surface methodology (RSM) and artificial neural networks (ANN) were used to optimize polyphenol extraction conditions. A second-order polynomial model guided us to predict ideal sugarcane straw harvesting conditions for polyphenol-rich extracts. The analysis identified CU0618-variety straw, harvested in Guariba during the dry season (October 2020), at the seventh harvest stage, with 13.81% borer insect infection, as the prime source for high hydroxybenzoic acid (1010 µg/g), hydroxycinnamic acid (3119 µg/g), and flavone (573 µg/g) content and consequently high antioxidant capacity. The ANN model surpasses the RSM model, demonstrating superior predictive capabilities with higher coefficients of determination and reduced mean absolute deviations for each polyphenol class. This underscores the potential of artificial neural networks in forecasting and enhancing polyphenol extraction conditions, setting the stage for AI-driven advancements in crop management.

6.
Int J Mol Sci ; 25(1)2023 Dec 19.
Article in English | MEDLINE | ID: mdl-38203191

ABSTRACT

Natural and sustainable anti-aging ingredients have gained attention from the cosmetic industry. This study evaluated the anti-aging potential of a sugarcane straw extract-based (SSE) cosmetic ingredient. First, cytotoxicity tests were assessed in keratinocytes and fibroblast cell lines, and sensitization was carried out through the direct peptide reactivity assay. Subsequently, various anti-aging properties were investigated, including inhibiting skin aging-related enzymes, promoting elastin and hyaluronic acid synthesis, and anti-pollution activity. Finally, a permeability assay using a synthetic membrane resembling skin was conducted. The results demonstrated that the SSE ingredient effectively inhibited elastase (55%), collagenase (25%), and tyrosinase (47%) while promoting hyaluronic acid production at non-cytotoxic and low-sensitizer concentrations. Moreover, it reduced the inflammatory response provoked by urban pollution, as evidenced by decreased levels of IL1-α and IL-6. However, it was observed that the phenolic compounds predominantly reached the skin's surface, indicating a limited ability to penetrate deeper layers of the skin. Therefore, it can be concluded that the SSE ingredient holds anti-aging properties, albeit with limited penetration into deeper skin layers. Further research and formulation advancements are needed to optimize the ingredient's ability to reach and exert its effects in deeper skin layers.


Subject(s)
Hyaluronic Acid , Saccharum , Keratinocytes , Monophenol Monooxygenase
7.
Foods ; 11(24)2022 Dec 13.
Article in English | MEDLINE | ID: mdl-36553767

ABSTRACT

The sugarcane processing industry generates a large amount of straw, which has a negative environmental impact, and high costs are associated with their elimination, wasting their potential bioactive value attributed to their richness in polyphenols. In this study, an ethanolic extract produced from sugarcane straw was screened for its phenolic compounds content, and the potential use of this extract in the development of a food ingredient was further evaluated. Fifty different secondary metabolites belonging to the hydroxybenzoic acids, hydroxycinnamic acids, and flavonoids were identified by liquid chromatography-electrospray ionization-ultrahigh-resolution-quadrupole time of flight-mass spectrometry (LC-ESI-UHR-QqTOF-MS). The predominant phenolic compounds found were 4-hydroxybenzaldehyde, chlorogenic acid, and 5-O-feruloylquinic acid. The obtained extracts showed strong potential as food preservatives by exhibiting (a) antioxidant activity using both 2.2'-azino-bis (3-ethylbenzothiazoline-6-sulphonic acid) diammonium salt radical cation (ABTS) and 2,2-diphenyl-1-picrylhydrazyl (DPPH) methods; and (b) antimicrobial capacity, with a minimum inhibitory concentration of 50 mg/mL for Staphylococcus aureus, 74% inhibition for Bacillus cereus, and 44% for Salmonella enterica; and (c) the capacity to inhibit a food browning enzyme, tyrosinase (28-73% for 1-8 mg/ mL). Moreover, the extracts showed antidiabetic potential by inhibiting the enzymes α-glucosidase (15-38% for 1.25-5.00 mg/mL) and dipeptidyl peptidase-IV (DPP-IV) (62-114% for 0.31-5.00 mg/mL). The extract (0.625 mg/mL) also exhibited the capacity to reduce proinflammatory mediators (i.e., interleukins 6 and 8, and tumor necrosis factor alpha) when Caco-2 cells were stimulated with interleukin 1 beta. Thus, sugarcane straw extract, which is rich in phenolic compounds, showed high potential to be used in the development of food-preservative ingredients owing to its antioxidant and antimicrobial potential, and to be explored as a food supplement in diabetes prevention and as coadjuvant to reduce intestinal inflammation by reducing proinflammatory mediators.

8.
Ginekol Pol ; 93(10): 799-805, 2022.
Article in English | MEDLINE | ID: mdl-36196563

ABSTRACT

OBJECTIVES: Uterine leiomyomas are the most common benign gynecological tumors. Symptomatic leiomyomas represent a major cause of hospitalization, particularly those associated with abnormal uterine bleeding (AUB) and anemia. The aim of this study was to identify predictors of anemia in women hospitalized due to uterine leiomyomas and evaluate its impact on treatment management and clinical outcomes. MATERIAL AND METHODS: Population-based retrospective study of women hospitalized for uterine fibroids in public hospitals in mainland Portugal between 2010 and 2015. Data were extracted from the national database of the Central Administration of the Portuguese Health System. Comparative and multivariable logistic regression analysis was performed to assess outcomes. RESULTS: A total of 36 295 patients were hospitalized due to uterine leiomyomas during this period. Of those, 11.5% presented with anemia. Age, obesity, intramural type of leiomyoma and AUB are independent predictors of anemia (p < 0.001, AUC 0.7056). Anemia was associated with a high risk of inpatient hospitalization (OR: 5.161, 95% CI: 4.376-6.085), urgent admission (OR: 1.953, 95% CI: 1.797-2.121), radical surgical approach (OR: 2.559, 95% CI: 2.298-2.849), laparoscopic hysterectomy (OR: 1.575, 95% CI: 1.393-1.780) and intra- and post-operative complications (OR: 5.285, 95% CI: 4.332-6.448). It was also associated with longer hospital stays (p < 0.001). These outcomes were more pronounced in acute anemic patients. CONCLUSIONS: Anemia has a significant impact on treatment approaches and clinical outcomes of women hospitalized for uterine leiomyomas. Age, obesity, intramural leiomyomas and AUB are some predictors of anemia that could represent a risk-stratification opportunity, allowing for its prompt identification and correction, therefore improving patient care.


Subject(s)
Anemia , Leiomyoma , Humans , Female , Retrospective Studies , Leiomyoma/complications , Leiomyoma/therapy , Anemia/epidemiology , Anemia/therapy
9.
Front Mol Biosci ; 9: 903065, 2022.
Article in English | MEDLINE | ID: mdl-36060249

ABSTRACT

Triple-negative breast cancer (TNBC) is a clinically aggressive subtype of breast cancer that represents 15-20% of breast tumors and is more prevalent in young pre-menopausal women. It is the subtype of breast cancers with the highest metastatic potential and recurrence at the first 5 years after diagnosis. In addition, mortality increases when a complete pathological response is not achieved. As TNBC cells lack estrogen, progesterone, and HER2 receptors, patients do not respond well to hormone and anti-HER2 therapies, and conventional chemotherapy remains the standard treatment. Despite efforts to develop targeted therapies, this disease continues to have a high unmet medical need, and there is an urgent demand for customized diagnosis and therapeutics. As immunotherapy is changing the paradigm of anticancer treatment, it arises as an alternative treatment for TNBC patients. TNBC is classified as an immunogenic subtype of breast cancer due to its high levels of tumor mutational burden and presence of immune cell infiltrates. This review addresses the implications of these characteristics for the diagnosis, treatment, and prognosis of the disease. Herein, the role of immune gene signatures and tumor-infiltrating lymphocytes as biomarkers in TNBC is reviewed, identifying their application in patient diagnosis and stratification, as well as predictors of efficacy. The expression of PD-L1 expression is already considered to be predictive of response to checkpoint inhibitor therapy, but the challenges regarding its value as biomarker are described. Moreover, the rationales for different formats of immunotherapy against TNBC currently under clinical research are discussed, and major clinical trials are highlighted. Immune checkpoint inhibitors have demonstrated clinical benefit, particularly in early-stage tumors and when administered in combination with chemotherapy, with several regimens approved by the regulatory authorities. The success of antibody-drug conjugates and research on other emerging approaches, such as vaccines and cell therapies, will also be addressed. These advances give hope on the development of personalized, more effective, and safe treatments, which will improve the survival and quality of life of patients with TNBC.

10.
Foods ; 11(13)2022 Jun 27.
Article in English | MEDLINE | ID: mdl-35804714

ABSTRACT

Serpa is a protected designation of origin cheese produced with a vegetable coagulant (Cynara cardunculus L.) and raw ovine milk. Despite the unique sensory profile of raw milk cheeses, numerous parameters influence their sensory properties and safety. To protect the Serpa cheese quality and contribute to unifying their distinctive features, some rheologic and physicochemical parameters of cheeses from four PDO producers, in distinct seasons and with different sensory scores, were monitored. The results suggested a high chemical diversity and variation according to the dairy, month and season, which corroborates the significant heterogeneity. However, a higher incidence of some compounds was found: a group of free amino acids (Glu, Ala, Leu, Val and Phe), lactic and acetic acids, some volatile fatty acids (e.g., iC4, iC5, C6 and C12) and esters (e.g., ethyl butanoate, decanoate and dodecanoate). Through the successive statistical analysis, 13 variables were selected as chemical markers of Serpa cheese specificity: C3, C4, iC5, C12, Tyr, Trp, Ile, 2-undecanone, ethyl isovalerate, moisture content on a fat-free basis, the nitrogen-fractions (maturation index and non-protein and total nitrogen ratio) and G' 1 Hz. These sensory markers' identification will be essential to guide the selection and development of an autochthonous starter culture to improve cheese quality and safety issues and maintain some of the Serpa authenticity.

11.
Article in English | MEDLINE | ID: mdl-35682079

ABSTRACT

The social conditions created by the COVID-19 pandemic had a great potential to affect the mental health of individuals. Meta-analyses indicate a rise in these problems in these periods among general populations, patients and health professionals, even with substantial heterogeneous results. This paper examines mental health impacts specifically during the first wave of COVID-19. An online survey was conducted with a Portuguese convenience sample (N = 1.062) comprising questions about substance use, perceived stress, post-traumatic stress disorder and self-damage behaviors. The results concerning substance use show an extensive use of medication to sleep or calm down, especially among women and older respondents, a small percentage of alcohol consumers with a high pattern of use and less frequent cannabis consumption, even with a quarter of users who began only in the COVID-19 period. The rates of perceived stress and PTSD were higher compared with international prevalence estimations during the pandemic conditions. Both correlated measures were worse for women and young people. Another problematic issue was the rate of suicidal ideation, with a relevant proportion of starters during this period. These data reinforce the need to promote access to mental health services.


Subject(s)
COVID-19 , Substance-Related Disorders , Adolescent , COVID-19/epidemiology , Female , Humans , Mental Health , Pandemics , Portugal/epidemiology , SARS-CoV-2
12.
Bioengineering (Basel) ; 9(5)2022 May 23.
Article in English | MEDLINE | ID: mdl-35621504

ABSTRACT

Photodynamic therapy (PDT) is a medical procedure useful for several benign conditions (such as wound healing and infections) and cancer. PDT is minimally invasive, presents few side effects, good scaring, and is able to minimal tissue destruction maintaining organ anatomy and function. Endoscopic access to the uterus puts PDT in the spotlight for endometrial disease treatment. This work systematically reviews the current evidence of PDT's potential and usefulness in endometrial diseases. Thus, this narrative review focused on PDT applications for endometrial disease, including reports regarding in vitro, ex vivo, animal, and clinical studies. Cell lines and primary samples were used as in vitro models of cancer, adenomyosis and endometrioses, while most animal studies focused the PDT outcomes on endometrial ablation. A few clinical attempts are known using PDT for endometrial ablation and cancer lesions. This review emphasises PDT as a promising field of research. This therapeutic approach has the potential to become an effective conservative treatment method for endometrial benign and malignant lesions. Further investigations with improved photosensitisers are highly expected.

13.
Case Rep Infect Dis ; 2022: 5607080, 2022.
Article in English | MEDLINE | ID: mdl-35223116

ABSTRACT

Peritoneal dialysis (PD)-related peritonitis is a frequent complication. PD units should be aware of all possible pathogens and share their experience about prevention and optimal management. Uncommon bacteria, a special group with crescent incidence in PD practice, may require singular considerations. A case of peritonitis due to Ewingella americana, a rare human pathogen, is reported, with a favorable outcome. To date, only three other cases have been described in the literature. New evidence is necessary for a better understanding of this pathogen and its consequences in PD modality.

14.
FEMS Yeast Res ; 21(4)2021 06 04.
Article in English | MEDLINE | ID: mdl-34021562

ABSTRACT

Candida albicans typically resides in the human gastrointestinal tract and mucosal membranes as a commensal organism. To adapt and cope with the host immune system, it has evolved a variety of mechanisms of adaptation such as stress-induced mutagenesis and epigenetic regulation. Niche-specific patterns of gene expression also allow the fungus to fine-tune its response to specific microenvironments in the host and switch from harmless commensal to invasive pathogen. Proteome plasticity produced by CUG ambiguity, on the other hand is emerging as a new layer of complexity in C. albicans adaptation, pathogenesis, and drug resistance. Such proteome plasticity is the result of a genetic code alteration where the leucine CUG codon is translated mainly as serine (97%), but maintains some level of leucine (3%) assignment. In this review, we dissect the link between C. albicans non-standard CUG translation, proteome plasticity, host adaptation and pathogenesis. We discuss published work showing how this pathogen uses the fidelity of protein synthesis to spawn novel virulence traits.


Subject(s)
Candida albicans/genetics , Candida albicans/pathogenicity , Protein Biosynthesis , Virulence/genetics , Adaptation, Physiological , Codon , Drug Resistance, Fungal , Epigenesis, Genetic , Proteome
15.
Ginekol Pol ; 92(3): 220-225, 2021.
Article in English | MEDLINE | ID: mdl-33751518

ABSTRACT

Endometriosis-associated malignancy in an episiotomy scar is rare. The predictive factors are poorly understood as are the mechanisms and pathways associated with implantation and malignant transformation. In this study we describe the cases reported in the literature of malignancies arising in endometriosis foci of an episiotomy scar. We identified 5 cases described between 1990 and 2016. These cases represent recurrence of endometriotic lesions in an episiotomy scar after previous diagnosis of endometriosis, 3 to 25 months before. Histology revealed clear cell tumours in 4 cases and a serous papillary carcinoma. The approach encompassed surgical removal for diagnosis and as part of the therapeutic strategy. Adjuvant treatment was performed depending on classical prognostic factors. Mechanisms of endometriosis implantation in scars include the influence of estrogens in the healing process and activation of COX-2, aromatase and matrix metalloproteinases. Nevertheless, for malignant transformation, other pathways seem to play a role, namely inflammation, immune response and oxidative stress, induced by iron deposits due to haemorrhage. Further studies are needed to allow the establishment of a predictive model for malignant transformation of endometriosis in episiotomy scars.


Subject(s)
Endometriosis , Episiotomy , Cell Transformation, Neoplastic , Cicatrix/complications , Endometriosis/complications , Endometriosis/surgery , Episiotomy/adverse effects , Female , Humans , Pregnancy
16.
Eur J Contracept Reprod Health Care ; 26(4): 272-278, 2021 Aug.
Article in English | MEDLINE | ID: mdl-33719811

ABSTRACT

INTRODUCTION: Contraceptive counselling is essential in women with chronic disease, though it is frequently overlooked. We aimed to assess practices and awareness in contraceptive counselling in hospital physicians caring for reproductive age women with chronic disease. METHODS: A questionnaire was distributed in April 2017 to physicians from 16 medical specialties in a tertiary care hospital in Portugal. Statistical analysis performed using Microsoft Office Excel® and IBM SPSS-Statistics®. RESULTS: Two-hundred physicians participated in the survey: 59.5% were female, 55% under 35 years-old and 48.5% were residents. Only 26.5% practiced in surgical specialties. Two-thirds consistently inquired about the use of contraception. Most referred patients to Family Planning services or performed contraceptive counselling when pregnancy posed significant health risks (89.0%), when prescribing teratogenic medication (79.5%) or drugs with potential interaction with contraceptives (75.0%). Lack of training in contraception was the main reason for not referring patients to Family Planning services. While 83% considered counselling very important, only 5% had recently undergone training and 12.5% felt knowledgeable enough to perform it. Only 12.5% were aware of the institution's Family Planning resources. Female gender, non-surgical specialty, age over 35 years-old and over 10 years since specialisation were positively associated with awareness. CONCLUSION: Most physicians addressed contraceptive management in women with comorbidities, but adequate training is lacking. Our results highlight the importance of communication between health care providers to achieve an adequate and multidisciplinary approach to reproductive and general health goals.


Subject(s)
Chronic Disease/epidemiology , Counseling , Family Planning Services , Health Knowledge, Attitudes, Practice , Physicians/psychology , Adult , Contraception , Contraception Behavior , Contraceptive Agents , Female , Humans , Male , Middle Aged , Morbidity , Pregnancy
17.
Acta Med Port ; 34(9): 580-585, 2021 Aug 31.
Article in English | MEDLINE | ID: mdl-33118925

ABSTRACT

INTRODUCTION: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature ovarian insufficiency. MATERIAL AND METHODS: Women diagnosed with premature ovarian insufficiency in a Portuguese tertiary centre were retrospectivelyanalysed. Data were retrieved from electronic medical records including clinical characteristics, cytogenetic and FMR1 testing. The main outcome measures were the prevalence of chromosome abnormalities and FMR1 premutation in a Portuguese population with premature ovarian insufficiency. RESULTS: Ninety-four patients were included, with a median age at menopause of 36 years. The prevalence of chromosome abnormalities was 16.5% (14/85) and most were X chromosome related (78.6%). The prevalence of FMR1 premutation was 6.7% (6/90). The prevalence of karyotypic abnormalities or FMR1 premutation did not differ significantly between familial and sporadic cases. Neither chromosome abnormalities nor FMR1 premutation influenced age at menopause or follicle stimulating hormone levels at diagnosis in premature ovarian insufficiency patients. DISCUSSION: This is the first study describing the clinical characteristics and both cytogenetic and FMR1 testing in a Portuguese population with premature ovarian insufficiency. The rate of chromosome abnormalities in our sample was higher than in other populations, while the prevalence of FMR1 premutation was similar to previous reports. CONCLUSION: Our results underline the importance of genetic screening in premature ovarian insufficiency patients in both etiological study and genetic counselling.


Introdução: As anomalias cromossómicas contribuem para 10% dos casos de insuficiência ovárica prematura estando maioritariamente associadas ao cromossoma X. A pré-mutação do gene fragile mental retardation 1 (FMR1) tem uma prevalência estimada de 1% - 7% nos casos esporádicos e até 13% nos casos familiares. O nosso objetivo foi descrever as características clínicas e a análise citogenética e do gene FMR1 de uma população Portuguesa com insuficiência ovárica prematura. Material e Métodos: Análise retrospetiva das mulheres com o diagnóstico de insuficiência ovárica prematura vigiadas num hospital terciário Português. Recolha de dados através do processo médico eletrónico incluindo características clínicas, análise citogenética e análise do gene FMR1. Os desfechos principais foram a prevalência de anomalias cromossómicas e da pré-mutação FMR1 numa população Portuguesa com insuficiência ovárica prematura. Resultados: Foram incluídas 94 doentes, com uma mediana de idade de menopausa de 36 anos. A prevalência de anomalias cromossómicas foi 16,5% (14/85) e a maioria estavam relacionadas com o cromossoma X (78,6%, n = 11). A prevalência da pré-mutação FMR1 foi de 6,7% (6/90). A prevalência de anomalias cromossómicas ou pré-mutação FMR1 não diferiu entre casos esporádicos e familiares. Nem as anomalias cromossómicas nem a pré-mutação FMR1 influenciaram a idade de menopausa ou os níveis da hormona estimulante dos folículos capilares aquando do diagnóstico na população com insuficiência ovárica prematura. Discussão: Este é o primeiro estudo a descrever as características clínicas e a análise citogenética e do gene FMR1 numa população Portuguesa com insuficiência ovárica prematura. A prevalência de anomalias cromossómicas na nossa amostra foi superior à descrita para outras populações, enquanto a prevalência da pré-mutação FMR1 foi semelhante à descrita em estudos anteriores. Conclusão: Os nossos resultados sublinham a importância do rastreio genético em doentes com insuficiência ovárica prematura, quer no estudo etiológico, quer no aconselhamento genético.


Subject(s)
Intellectual Disability , Primary Ovarian Insufficiency , Chromosome Aberrations , Female , Fragile X Mental Retardation Protein/genetics , Humans , Portugal/epidemiology , Prevalence , Primary Ovarian Insufficiency/genetics
18.
Coimbra; s.n; 2021. 78 p. tab, ilus.
Thesis in Portuguese | BDENF - Nursing | ID: biblio-1281644

ABSTRACT

Ao envelhecimento associam-se um conjunto de mudanças físicas e psicológicas que conduzem à rutura da (in)dependência e autonomia da pessoa. A intervenção do enfermeiro especialista em enfermagem de reabilitação através de um programa de reabilitação pretende maximizar os ganhos de saúde. A presente investigação objetiva a avaliação da independência nas Atividades de Vida Diária dos idosos através da aplicação diagnóstica do Índice de Barthel, identificando o impacto de um programa de enfermagem de reabilitação em Estruturas Residenciais para Pessoas Idosas, na promoção da autonomia do idoso. A metodologia consistiu no desenvolvimento de um estudo quantitativo, quase-experimental e transversal. O programa de enfermagem de reabilitação foi aplicado a uma amostra não probabilística por conveniência, de 37 idosos residentes numa Santa Casa da Misericórdia, da região Centro, cuja média de idades é de 84,35 anos. Cada participante realizou dois momentos de aplicação do Índice de Barthel, um antes e um após a participação no programa composto por 15 sessões com a duração de 45 minutos, duas vezes por semana entre os meses de outubro de 2018 e março de 2019. Após a participação no programa de enfermagem de reabilitação, verificou-se pela análise do índice de Barthel nos dois momentos, a diferença entre as médias para amostra total dos 37 indivíduos e um valor-p<0.05 pelo que traduz uma melhoria considerável nos parâmetros avaliados. O programa de enfermagem de reabilitação revelou-se efetivo no desenvolvimento de capacidades que visam a manutenção ou recuperação da autonomia potenciando resultados significativos na dependência da pessoa, promovendo assim o autocuidado.


Subject(s)
Aged , Aging , Rehabilitation Nursing , Personal Autonomy , Homes for the Aged
19.
J Vis Exp ; (157)2020 03 01.
Article in English | MEDLINE | ID: mdl-32176214

ABSTRACT

Cancer stem cells (CSC) are a small population with self-renewal and plasticity which are responsible for tumorigenesis, resistance to treatment and recurrent disease. This population can be identified by surface markers, enzymatic activity and a functional profile. These approaches per se are limited, due to phenotypic heterogeneity and CSC plasticity. Here, we update the sphere-forming protocol to obtain CSC spheres from breast and gynecological cancers, assessing functional properties, CSC markers and protein expression. The spheres are obtained with single-cell seeding at low density in suspension culture, using a semi-solid methylcellulose medium to avoid migration and aggregates. This profitable protocol can be used in cancer cell lines but also in primary tumors. The tridimensional non-adherent suspension culture thought to mimic the tumor microenvironment, particularly the CSC-niche, is supplemented with epidermal growth factor and basic fibroblast growth factor to ensure CSC signaling. Aiming for robust identification of CSC, we propose a complementary approach, combining functional and phenotypic evaluation. Sphere-forming capacity, self-renewal and sphere projection area establish CSC functional properties. Additionally, characterization comprises flow cytometry evaluation of the markers, represented by CD44+/CD24- and CD133, and Western blot, considering ALDH. The presented protocol was also optimized for primary tumor samples, following a sample digestion procedure, useful for translational research.


Subject(s)
Breast Neoplasms/pathology , Genital Neoplasms, Female/pathology , Neoplastic Stem Cells/pathology , Spheroids, Cellular/pathology , Biomarkers, Tumor/metabolism , Cell Adhesion , Cell Line, Tumor , Cell Self Renewal , Endometrial Neoplasms/pathology , Female , Humans , Hyaluronan Receptors , Phenotype
20.
J. bras. nefrol ; 42(1): 31-37, Jan.-Mar. 2020. tab
Article in English, Portuguese | LILACS | ID: biblio-1098338

ABSTRACT

ABSTRACT Introduction: It has been suggested that cystatin C levels are modified by obesity and inflammation. Furthermore, cystatin C has been associated with cardiovascular events and mortality outcomes. Aim: To study the association of cystatin C with the metabolic profile and cardiovascular disease of peritoneal dialysis patients. Methods: Data collected included clinical, laboratorial, and multifrequency bioimpedance assessment of 52 stable peritoneal dialysis patients. Minimal residual renal function was defined as > 2mL/min/1.73m2. Results: Serum cystatin C was not significantly associated with peritoneal or urinary cystatin C excretion. Negative correlation of cystatin C with normalized protein catabolic rate (rho -0.33, p = 0.02) and a trend towards positive correlation with relative body fat (rho 0.27, p = 0.05) were not independent from residual renal function. Cystatin C was not significantly associated with cardiovascular disease (p = 0.28), nor with glycated hemoglobin (p = 0.19) or c-reactive protein (p = 0.56). In the multivariate model, both age and diabetes were the strongest predictors of cardiovascular disease (odds ratio 1.09, p = 0.029 and odds ratio 29.95, p = 0.016, respectively), while relative body fat was negatively associated with cardiovascular disease (p = 0.038); neither cystatin C (p = 0.096) nor minimal residual renal function (p = 0.756) reached a significant association with cardiovascular disease. Conclusions: In this group of peritoneal dialysis patients, cystatin C did not correlate with the metabolic or inflammatory status, nor cardiovascular disease, after adjustment for residual renal function.


RESUMO Introdução: Tem sido sugerido que os níveis de cistatina C são modificados pela obesidade e inflamação. Além disso, a cistatina C tem sido associada a eventos cardiovasculares e desfechos de mortalidade. Objetivo: Estudar a associação da cistatina C com o perfil metabólico e doença cardiovascular de pacientes em diálise peritoneal. Métodos: Os dados coletados incluíram avaliação clínica, laboratorial e de bioimpedância múltipla de 52 pacientes estáveis em diálise peritoneal. A função renal residual mínima foi definida como > 2mL/min/1,73m2. Resultados: A cistatina C sérica não esteve significativamente associada à excreção peritoneal ou urinária. A correlação negativa da cistatina C com a taxa catabólica protéica normalizada (rho -0,33, p = 0,02) e uma tendência de correlação positiva com a gordura corporal relativa (rho 0,27, p = 0,05) não foram independentes da função renal residual. A cistatina C não se associou significativamente à doença cardiovascular (p = 0,28), nem com hemoglobina glicada (p = 0,19) ou proteína C reativa (p = 0,56). No modelo multivariado, idade e diabetes foram os mais fortes preditores de doença cardiovascular (razões de probabilidade 1,09, p = 0,029 e 29,95, p = 0,016, respectivamente) enquanto a gordura corporal relativa se associou negativamente à doença cardiovascular (p = 0,038). A cistatina C não se associou significativamente com doença cardiovascular (p = 0,096), tampouco a função residual mínima (p = 0,756). Conclusão: Neste grupo de pacientes em diálise peritoneal, a cistatina C não se correlacionou com o estado metabólico ou inflamatório, nem com doença cardiovascular, após ajuste para função renal residual.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Cardiovascular Diseases/blood , Cardiovascular Diseases/epidemiology , Peritoneal Dialysis , Cystatin C/blood , Metabolome , Glomerular Filtration Rate , C-Reactive Protein/analysis , Glycated Hemoglobin/analysis , Biomarkers/blood , Risk , Cross-Sectional Studies , Cohort Studies
SELECTION OF CITATIONS
SEARCH DETAIL
...