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1.
Immun Ageing ; 21(1): 67, 2024 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-39385197

RESUMO

Systemic inflammation significantly increases the risk of short- and long-term mortality in geriatric hospitalized patients. To predict mortality in older patients with various age-related diseases and infections, including COVID-19, inflammatory biomarkers such as the C-reactive protein (CRP) to albumin ratio (CAR), and related scores and indexes, i.e. Glasgow Prognostic Score (GPS), modified GPS (mGPS), and high sensitivity (hs)-mGPS, have been increasingly utilized. Despite their easy affordability and widespread availability, these biomarkers are predominantly assessed for clinical purposes rather than predictive applications, leading to their underutilization in hospitalized older patients. In this study, we investigated the association of CAR, GPS, mGPS, and hs-mGPS with short-term mortality in 3,206 geriatric hospitalized patients admitted for acute conditions, irrespective of admission diagnosis. We observed that unit increases of CAR, and the highest classes of GPS, mGPS, and hs-mGPS were significantly associated with a two- to threefold increased risk of death, even adjusting the risk for different confounding variables. Interestingly, a hs-mGPS of 2 showed the highest effect size. Furthermore, gender analysis indicated a stronger association between all CRP-albumin based parameters and mortality in men, underscoring the gender-specific relevance of inflammation-based circulating parameters in mortality prediction. In conclusion, scores based on serum CRP and albumin levels offer additional guidance for the stratification of in-hospital mortality risk in older patients by providing additional information on the degree of systemic inflammation.

2.
Int J Mol Sci ; 25(13)2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-39000220

RESUMO

Tauroursodeoxycholic acid (TUDCA) increases the influx of primary bile acids into the gut. Results obtained on animal models suggested that Firmicutes and Proteobacteria phyla are more resistant to bile acids in rats. As part of a pilot study investigating the role of probiotics supplementation in elderly people with home enteral nutrition (HEN), a case of a 92-year-old woman with HEN is reported in the present study. She lives in a nursing home and suffers from Alzheimer's disease (AD); the patient had been prescribed TUDCA for lithiasis cholangitis. The aim of this case report is therefore to investigate whether long-term TUDCA administration may play a role in altering the patient's gut microbiota (GM) and the impact of an antibiotic therapy on the diversity of microbial species. Using next generation sequencing (NGS) analysis of the bacterial 16S ribosomal RNA (rRNA) gene a dominant shift toward Firmicutes and a remodeling in Proteobacteria abundance was observed in the woman's gut microbiota. Considering the patient's age, health status and type of diet, we would have expected to find a GM with a prevalence of Bacteroidetes phylum. This represents the first study investigating the possible TUDCA's effect on human GM.


Assuntos
Antibacterianos , Nutrição Enteral , Microbioma Gastrointestinal , Ácido Tauroquenodesoxicólico , Humanos , Feminino , Microbioma Gastrointestinal/efeitos dos fármacos , Ácido Tauroquenodesoxicólico/farmacologia , Ácido Tauroquenodesoxicólico/uso terapêutico , Idoso de 80 Anos ou mais , Nutrição Enteral/métodos , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , RNA Ribossômico 16S/genética , Doença de Alzheimer/terapia , Doença de Alzheimer/microbiologia
3.
Ann Plast Surg ; 86(2): 137-141, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-32541536

RESUMO

BACKGROUND: Preservation rhinoplasty (PR) is revolutionizing rhinoplasty surgery, based on new anatomical studies, advanced tip suture techniques, and refinement of surgical techniques. Septal surgery is a fundamental preparatory stage during PR, especially for the dorsal preservation let/push-down procedure. To increase the predictability of the septoplasty aesthetic effects on the nasal dorsum and further extend the principles of PR to septal surgery, we applied the endoscopic technology to the "quick" septoplasty technique we had already developed in the past decades. METHODS: One hundred sixty-six patients (41 males, 125 females; mean age, 39.7 years; age range, 18-61 years) were submitted to endoscopic "quick" septoplasty for septal deviation during PR procedure. Preoperative evaluation of the nasal dorsum included external examinations of the size, shape, and orientation of the dorsum. Anterior active rhinomanometry was performed in all patients to determine nasal flow resistance preoperatively and 6 months after surgery. Preoperative and postoperative patients' scores on the Nasal Obstruction Septoplasty Effectiveness questionnaire were compared to assess the improvement of nasal symptoms after surgery. The duration of the septoplasty procedure was measured for all the patients. Standard nasal photographic assessment was performed before and 6 months after surgery. RESULTS: Postoperatively, 98.8% of our patients displayed an improvement of their nasal breathing function. No complication in terms of septal perforation, nasal infection, or bleeding was noticed. No case of turbinoseptal synechiae or cerebrospinal fluid leak was recorded. The dorsum preservation rhinoplasty procedure was successfully completed in all patients. The mean septoplasty operative time, excluding local anesthesia injection and other surgical procedures associated with septal surgery such as turbinoplasty and rhinoplasty, was 11.41 ± 6.23 minutes (range, 9-31 minutes). CONCLUSIONS: Our results show that a short surgical time is needed to perform the proposed endoscopic septoplasty procedure. Such a short operative time allows the physician to both correct septal deviations quickly and correct/reduce the cartilaginous hump, thus representing a fundamental element of PR. In addition, the minimal tissue dissection reduces intraoperative nasal edema, favoring intraoperative aesthetic evaluation.


Assuntos
Obstrução Nasal , Deformidades Adquiridas Nasais , Rinoplastia , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obstrução Nasal/cirurgia , Septo Nasal/cirurgia , Deformidades Adquiridas Nasais/cirurgia , Resultado do Tratamento , Adulto Jovem
4.
Eur J Cancer Care (Engl) ; 29(5): e13276, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32510682

RESUMO

OBJECTIVE: International guidelines recommend genetic counselling and if indicated the genetic testing for treatment, disease prevention and follow-up for patients and their relatives. However, there is limited utilisation of genetic counselling. This study aimed to verify whether an individual semi-structured guideline-based interview improves the identification of patients eligible for genetic counselling. METHODS: Unselected patients with cancer were interviewed. A dedicated nurse provided an ad-hoc guideline-based questionnaire to assess the presence of criteria for a possible hereditary breast and ovarian cancer syndrome or hereditary non-polyposis colorectal cancer syndrome (Lynch syndrome). The interest of patients to undergo genetic counselling was also investigated. RESULTS: Ninety patients were enrolled in the study; 20 (22.2%) of these had already undergone genetic counselling. The interview identified 23 (32.8%) of the remaining 70 patients that were eligible for genetic counselling. Two-third of the patients (n = 59) were interested in genetic counselling irrespective of socio-demographic factors or cancer type. A logistic regression analysis for age, gender, parental status, educational level and cancer type did not reveal any independent factor that was associated with patients who had previous genetic counselling. CONCLUSIONS: Our preliminary findings suggest that a semi-structured guideline-based interview can substantially improve the identification of patients eligible for genetic counselling.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose , Síndrome Hereditária de Câncer de Mama e Ovário , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Feminino , Aconselhamento Genético , Testes Genéticos , Humanos , Inquéritos e Questionários
5.
Mol Genet Metab ; 123(1): 43-49, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29198592

RESUMO

Tangier disease is an autosomal recessive disorder caused by mutations in the ABCA1 gene and characterized by the accumulation of cholesteryl ester in various tissues and a near absence of high-density lipoprotein. The subject in this investigation was a 36-year-old Italian man with Tangier disease. He and his wife had come to the In Vitro Fertilization Unit, Pesaro Hospital (Azienda Ospedaliera Ospedali Riuniti Marche Nord) seeking help regarding fertility issues. The man was diagnosed with severe oligoasthenoteratozoospermia. Testosterone is the sex hormone necessary for spermatogenesis and cholesterol is its precursor; hence, we hypothesized that the characteristic cholesterol deficiency in Tangier disease patients could compromise their fertility. The aim of the study was to therefore to determine if there is an association between Tangier disease and male infertility. After excluding viral, infectious, genetic and anatomical causes of the subject's oligoasthenoteratozoospermia, we performed a hormonal analysis to verify our hypothesis. The patient was found to be negative for frequent bacteria and viruses. The subject showed a normal male karyotype and tested negative for Yq microdeletions and Cystic Fibrosis Transmembrane Conductance Regulator gene mutations. A complete urological examination was performed, and primary hypogonadism was also excluded. Conversely, hormonal analyses showed that the subject had a high level of follicle stimulating hormone and luteinizing hormone, low total testosterone and a significant decline in inhibin B. We believe that the abnormally low cholesterol levels typically found in subjects with Tangier disease may result in a reduced testosterone production which in turn could affect the hormonal axis responsible for spermatogenesis leading to a defective maturation of spermatozoa.


Assuntos
Colesterol/genética , Infertilidade Masculina/genética , Doença de Tangier/genética , Testosterona/biossíntese , Transportador 1 de Cassete de Ligação de ATP/genética , Adulto , Colesterol/deficiência , Ésteres do Colesterol/genética , Ésteres do Colesterol/metabolismo , Humanos , Infertilidade Masculina/complicações , Infertilidade Masculina/fisiopatologia , Masculino , Mutação , Oligospermia/complicações , Oligospermia/genética , Oligospermia/fisiopatologia , Espermatogênese/genética , Doença de Tangier/complicações , Doença de Tangier/fisiopatologia
7.
Front Endocrinol (Lausanne) ; 15: 1359482, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38745954

RESUMO

Background: Prognostic risk stratification in older adults with type 2 diabetes (T2D) is important for guiding decisions concerning advance care planning. Materials and methods: A retrospective longitudinal study was conducted in a real-world sample of older diabetic patients afferent to the outpatient facilities of the Diabetology Unit of the IRCCS INRCA Hospital of Ancona (Italy). A total of 1,001 T2D patients aged more than 70 years were consecutively evaluated by a multidimensional geriatric assessment, including physical performance evaluated using the Short Physical Performance Battery (SPPB). The mortality was assessed during a 5-year follow-up. We used the automatic machine-learning (AutoML) JADBio platform to identify parsimonious mathematical models for risk stratification. Results: Of 977 subjects included in the T2D cohort, the mean age was 76.5 (SD: 4.5) years and 454 (46.5%) were men. The mean follow-up time was 53.3 (SD:15.8) months, and 209 (21.4%) patients died by the end of the follow-up. The JADBio AutoML final model included age, sex, SPPB, chronic kidney disease, myocardial ischemia, peripheral artery disease, neuropathy, and myocardial infarction. The bootstrap-corrected concordance index (c-index) for the final model was 0.726 (95% CI: 0.687-0.763) with SPPB ranked as the most important predictor. Based on the penalized Cox regression model, the risk of death per unit of time for a subject with an SPPB score lower than five points was 3.35 times that for a subject with a score higher than eight points (P-value <0.001). Conclusion: Assessment of physical performance needs to be implemented in clinical practice for risk stratification of T2D older patients.


Assuntos
Diabetes Mellitus Tipo 2 , Avaliação Geriátrica , Aprendizado de Máquina , Desempenho Físico Funcional , Humanos , Masculino , Feminino , Idoso , Diabetes Mellitus Tipo 2/mortalidade , Estudos Retrospectivos , Medição de Risco/métodos , Estudos Longitudinais , Idoso de 80 Anos ou mais , Avaliação Geriátrica/métodos , Prognóstico , Itália/epidemiologia , Seguimentos , Fatores de Risco , Mortalidade/tendências
8.
Vaccines (Basel) ; 10(6)2022 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-35746492

RESUMO

Healthcare workers (HCWs) are reluctant to participate in the influenza vaccination program, despite their high risk to contract and diffuse influenza due to professional exposure. The onset of the COVID-19 pandemic could raise HCW flu vaccination adherence. The aim of this study was to assess HCW attitudes toward influenza vaccination in the COVID-19 era. A multicenter observational study was carried out in three Italian hospitals (two in Pesaro and one in Fano, Marche region, Italy). Data about HCW influenza vaccination between 2013 and 2021 were extracted from the vaccination registers. An online questionnaire was sent to HCWs from July to October 2020 to assess their opinion about influenza vaccination in terms of knowledge, attitude, and practice during the COVID-19 pandemic. The number of flu-vaccinated HCWs increased from 3.7% in the 2013−2014 flu season to 53.6% in the 2020−2021 flu season (p < 0.001). About 15% (n = 324) of HCWs responded to the online questionnaire, and 30.5% of them declared that they had changed their minds on flu vaccination after the COVID-19 pandemic, deciding to get vaccinated. The COVID-19 pandemic significantly increased HCWs' attitudes toward flu vaccination. However, flu vaccination adherence remained low and should be improved.

9.
Front Oncol ; 11: 737300, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34552880

RESUMO

The efficacy of Covid-19 vaccine in hematopoietic stem cell transplantation (HSCT) recipients is still unknown. We planned a prospective study to evaluate the immune response after the administration of Covid-19 vaccine in HSCT recipients. Fifty patients previously submitted to HSCT (38 autologous and 12 allogeneic) received the mRNA-based SARS-CoV-2 vaccine BNT162b2 (Pfizer-BioNTech). Serum samples of all patients were tested for SARS-CoV-2 IgG against the Spike glycoprotein, 30 days after the second dose of vaccine. Antibody response was compared to a control group of 45 healthy subjects. Of the 50 patients tested, 12 did not develop any antibody response, including 6 patients undergoing autologous (16%) and 6 allogeneic HSCT (50%). Cyclosporine administration in allogeneic recipients and prior administration of Rituximab in the autologous setting correlated with lower antibody titers (p < 0.0003 and p=0.000, respectively). Flow cytometry of peripheral blood samples, performed 30 days after the vaccination, showed a significant correlation between the antibody response to Sars-COV2 and an increased number in CD19+ B lymphocytes (p = 0.0003) and CD56+ natural killer (NK) cells (p = 0.00). In conclusion, prior Rituximab before autologous HSCT and cyclosporine administration after allogeneic HSCT negatively affected the antibody response to Sars-COV2 vaccine, possibly due to their immunosuppressive action on CD20 +B cells and T cells, respectively. The correlation between seroconversion to Sars-COV2 and higher number of CD19 + B cells and CD56+ NK cells, suggests a central role for B and NK cells in the development of COVID-19 immunity after vaccination with a mRNA-based platform.

10.
Auris Nasus Larynx ; 48(5): 914-921, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33685756

RESUMO

OBJECTIVE: Many authors have investigated the most appropriate surgical approach to the deviated septum in childhood, considering the obligate mouth-breathing habit a possible cause of malocclusion and disharmonious development of the facial skeleton in growing kids. Nevertheless, controversies still remain about the long-term functional/esthetic results of such procedures, mainly due to the duration of the follow-up and possible confounding factors. METHODS: 111 Caucasian children (age range: 6-13 years) were submitted to a personal "Quick" septoplasty surgical technique between 2005 and 2010. Preoperative otorhinolaryngological examination using flexible nasal endoscopy, anterior active rhinomanometry (AAR), Nasal Obstruction Septoplasty Effectiveness (NOSE) questionnaire, and dentofacial evaluation (including cephalometry) were performed. Postoperative AAR, NOSE questionnaire and cephalometric assessment were carried out in all patients at the age of 18 years. Informed consent was obtained from children's parents as appropriate. RESULTS: No surgical complication was recorded. Among our patients, a significant (p <0.001) improvement of nasal breathing resistances at AAR and NOSE questionnaire scores was found after surgery. A significant improvement in cephalometric/dental parameters (gonial angle values, anterior facial height, prevalence of class I occlusion, maxillary intermolar width, and cross-bite frequency) was noticed after the follow-up with respect to preoperative conditions. CONCLUSION: The "Quick" septoplasty technique described is a practical and conservative procedure with a low complication rate that offers long-term favourable results for the correction of nasal septum deviations in children. Nasal-breathing restoration may favor a physiological and harmonious development of craniofacial and dental structures in offspring.


Assuntos
Ossos Faciais/crescimento & desenvolvimento , Obstrução Nasal/cirurgia , Septo Nasal/cirurgia , Rinoplastia/métodos , Adolescente , Cefalometria , Criança , Feminino , Humanos , Masculino , Má Oclusão/epidemiologia , Respiração Bucal/fisiopatologia , Obstrução Nasal/fisiopatologia , Septo Nasal/anormalidades , Estudos Prospectivos , Mecânica Respiratória/fisiologia , Rinomanometria
11.
Recenti Prog Med ; 112(9): 587-593, 2021 09.
Artigo em Italiano | MEDLINE | ID: mdl-34423793

RESUMO

INTRODUCTION: Nomophobia, a form of behavioral addiction, is uncontrolled, obsessive fear of being disconnected from the mobile phone network. Excessive use of smartphone during care, a source of errors and distractions, is among the top ten risks related to the use of technologies in healthcare. The study aims to investigate the presence of nomophobia among nurses and students of the Degree in Nursing and any differences based on gender, age group and seniority. METHODS: A cross-sectional quantitative descriptive study conducted at Università Politecnica delle Marche and Azienda Ospedali Riuniti Marche Nord departments; the NMP-Q questionnaire (Nomophobia Questionnaire) was administered to a non-probabilistic sample of nurses and nursing students. The data were analyzed using descriptive and inferential non-parametric statistical measurements. RESULTS: A total of 280 questionnaires were returned, 141 for students and 139 for nurses. The mean total score for students and nurses was moderate and overlapping (M=79.9 vs. 79.3, p>0.05), with no difference by gender and course year (p>0.05); in the sample of nurses score is higher in men (M=89.8 vs. 76.0, p=0.037), under 30 (M=72.0) and over 50 years (M=83.1, p=0.021). The comparison between the two groups shows higher percentages of moderate nomophobic grade among students (+17pp), mild (+8.2 pp) and severe (+7.4 pp) among nurses, without significant gender differences. CONCLUSIONS: In the perspective of proper risk management, the level of nomophobia found in both groups should not be underestimated. This study highlights the importance of monitoring the phenomenon, adopting information and awareness-raising policies aimed at healthcare personnel as early as university training: distracting factors associated with the over-use of smartphones in the workplace make nurses, particularly newly graduates and with less expertise, more vulnerable and more exposed to the risk of error.


Assuntos
Ansiedade , Estudantes de Enfermagem , Estudos Transversais , Humanos , Masculino , Smartphone , Inquéritos e Questionários , Universidades
12.
Otolaryngol Head Neck Surg ; 164(1): 82-86, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32662745

RESUMO

While olfactory dysfunction associated with coronavirus disease 2019 (COVID-19) has attracted considerable interest, few studies have tracked outcomes at serial time points or beyond 2 weeks. Furthermore, data are conflicting regarding whether COVID-19 severity correlates with degree of olfactory dysfunction. This prospective case-control study analyzed prevalence and severity of subjective loss of smell in outpatients (n = 23) and inpatients (n = 20) with confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection vs healthy controls (n = 25). Olfactory dysfunction was reported more commonly in COVID-19 patients than in healthy controls (P < .001), and outpatients paradoxically reported loss of smell more commonly than inpatients (P = .02). Headaches were present in 52% of patients with olfactory dysfunction. Anosmia or hyposmia persisted beyond 5 days but most of the patients recovered by 30 days, suggesting favorable prognosis for olfaction. Differences between inpatients and outpatients are potentially reflective of timeline of olfactory symptoms and contextual factors, underscoring the importance of corroborative objective testing, coupled with careful tracking of temporal relationships.


Assuntos
COVID-19/complicações , Transtornos do Olfato/epidemiologia , Recuperação de Função Fisiológica , SARS-CoV-2 , Olfato/fisiologia , Idoso , COVID-19/epidemiologia , Estudos de Casos e Controles , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Transtornos do Olfato/etiologia , Transtornos do Olfato/fisiopatologia , Prevalência , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos
13.
Life (Basel) ; 11(7)2021 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-34357032

RESUMO

Background. Health and social management of the SARS-CoV-2 epidemic, responsible for the COVID-19 disease, requires both screening tools and diagnostic procedures. Reliable screening tests aim at identifying (truely) infectious individuals that can spread the viral infection and therefore are essential for tracing and harnessing the epidemic diffusion. Instead, diagnostic tests should supplement clinical and radiological findings, thus helping in establishing the diagnosis. Several analytical assays, mostly using RT-PCR-based technologies, have become commercially available for healthcare workers and clinical laboratories. However, such tests showed some critical limitations, given that a relevant number of both false-positive and false-negative cases have been so far reported. Moreover, those analytical techniques demonstrated to be significantly influenced by pre-analytical biases, while the sensitivity showed a dramatic time dependency. Aim. Herein, we critically investigate limits and perspectives of currently available RT-PCR techniques, especially when referring to the required performances in providing reliable epidemiological and clinical information. Key Concepts. Current data cast doubt on the use of RT-PCR swabs as a screening procedure for tracing the evolution of the current SARS-COV-2 pandemic. Indeed, the huge number of both false-positive and false-negative results deprives the trustworthiness of decision making based on those data. Therefore, we should refine current available analytical tests to quickly identify individuals able to really transmit the virus, with the aim to control and prevent large outbreaks.

14.
Respir Med Case Rep ; 31: 101115, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32670785

RESUMO

The novel coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused a pandemic, threatening global public health. In the current paper, we describe our successful treatment of one COVID-19 pneumonia patient case with high mortality risk factors. Our experience underlines the importance of the use of a multidisciplinary therapeutic approach in order to achieve a favorable clinical outcome. Further, enhancing the capability of the COVID-19 diagnosis with the use of the chest imaging modalities is discussed.

15.
Recenti Prog Med ; 108(4): 183-190, 2017 Apr.
Artigo em Italiano | MEDLINE | ID: mdl-28492587

RESUMO

INTRODUCTION: The "intentional roundings" are planned rounds, conducted at regular intervals by nursing staff to anticipate care, comfort, hospitality and psychological needs of hospitalized users. These purposes are achieved with a structured way to make observations and carry out activities for well-being and patient safety, documenting what was done with a structured ad hoc form. In the United Kingdom, as well as in the USA, intentional rounding is an established model of care that improve the safety of provided care, to reduce the occurrence of preventable events, address proactively basic caring needs, and that increase users and staff satisfaction. OBJECTIVE: Implementing in a medical pilot unit the care model named "intentional rounding". METHODS: The care team carried intentional rounds every two hours, in a systematic and documented manner. All patients received admission informations about the organizational method and were invited to participate by completing a satisfaction questionnaire at discharge. At the end of the experimental period organizational impact have been investigated, specifically users and hospital staff satisfaction. RESULTS: About privacy, courtesy, nurse support and quality of care provided, level of satisfaction of patients and caregivers reached high percentage of approval (90-99%). Nurses and other healthcare personnel have perceived they delivered either a safer and most satisfying healthcare (90-94%) as well as inter- and intra-professional dynamics communications (95%). Value of roundings have been less appreciated concerning the optimization about the worktime management (79%). Calls to the bell have had a notable change of their reasons unlikely about the quantity. CONCLUSIONS: Intentional roundings affects very positively to users satisfaction level and to the perception of the quality of care provided; the care team, though express the need to make some changes for a real implementation, recognize the proactivity of intentional roundings as an added value.


Assuntos
Modelos Organizacionais , Recursos Humanos de Enfermagem Hospitalar/organização & administração , Assistência ao Paciente/métodos , Visitas de Preceptoria/organização & administração , Idoso , Idoso de 80 Anos ou mais , Feminino , Hospitalização , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Equipe de Assistência ao Paciente/organização & administração , Satisfação do Paciente , Qualidade da Assistência à Saúde , Inquéritos e Questionários
16.
Cardiovasc Pathol ; 25(1): 47-54, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26549652

RESUMO

BACKGROUND: Brugada syndrome (BrS) is a primary electrical disease associated with an increased risk of sudden cardiac death due to ventricular fibrillation. This pathology has nuclear heterogeneous genetic origins, and at present, molecular diagnostic tests on nuclear DNA cover only 30% of BrS patients. The aim of this study was to assess the possible involvement of mitochondrial (mt) DNA variants in BrS since their etiological role in several cardiomyopathies has already been described. METHODS AND RESULTS: The whole mt genome of BrS patients was sequenced and analyzed. A specific mtDNA mutation responsible for BrS can be excluded, but BrS patient d-loop was found to be more polymorphic than that of control cases (P=0.003). Moreover, there appears to be an association between patients with the highest number of variants (n>20) and four mt Single Nucleotide Polymorphism (SNPs) (T4216C, A11251G, C15452A, T16126C) and the most severe BrS phenotype (P=0.002). CONCLUSIONS: The high substitution rate found in BrS patient mtDNA is unlikely to be the primary cause of the disease, but it could represent an important cofactor in the manifestation of the BrS phenotype. Evidence suggesting that a specific mtDNA allelic combination and a high number of mtDNA SNPs may be associated with more severe cases of BrS represents the starting point for further cohort studies aiming to test whether this mt genetic condition could be a genetic modulator of the BrS clinical phenotype.


Assuntos
Síndrome de Brugada/genética , Análise Mutacional de DNA , DNA Mitocondrial/genética , Mutação , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/fisiopatologia , Síndrome de Brugada/terapia , Estudos de Casos e Controles , Eletrocardiografia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Índice de Gravidade de Doença , Adulto Jovem
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