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1.
Neurol Sci ; 45(3): 1233-1242, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37831214

RESUMO

BACKGROUND: Rituximab, a B-cell depleting monoclonal antibody, represents an option for the treatment of refractory myasthenia gravis (MG). Its use is more established in muscle-specific tyrosine kinase positive (MuSK +) patients, while its role in managing acetylcholine receptor positive (AChR +), or double seronegative (DSN) patients, remains less clear. This study evaluates the long-term effectiveness and safety of rituximab in MG of various serotypes. METHODS: We conducted an open-label study of MG patients receiving rituximab. Adults with generalized refractory MG, either anti-AChR + or DSN, and anti-MuSK + , refractory or not, who had follow-up > 12 months were selected. Change in quantitative myasthenia gravis (QMG) score at last follow-up, compared with baseline was a primary outcome, as well as factors affecting response to treatment. Secondary outcomes included, long-term safety, the steroid-sparing effect and relapse rates post-rituximab. RESULTS: Thirty patients (16 anti-AChR + , 6 anti-MuSK + , 8 DSN) followed for a mean of 33.3 months were included. Mean scores pre-rituximab compared to last follow-up significantly decreased (p < 0.001), from 11 ± 4.1 to 4.3 ± 3.8, and from 1.9 to 0.3 regarding QMG and relapse rate per patient/year, respectively, while in 93.1% a daily steroid dose ≤ 10 mg was achieved. Antibody status was the only factor independently influencing several endpoints. Throughout the study period no crises or deaths occurred. CONCLUSION: The present study supports that rituximab is an effective and well tolerated treatment for refractory anti-AChR + and DSN MG patients, while anti-MuSK + remains the group experiencing the greater benefits.


Assuntos
Fatores Imunológicos , Miastenia Gravis , Adulto , Humanos , Rituximab/uso terapêutico , Fatores Imunológicos/uso terapêutico , Recidiva Local de Neoplasia/tratamento farmacológico , Miastenia Gravis/tratamento farmacológico , Esteroides/uso terapêutico , Recidiva , Autoanticorpos
2.
Muscle Nerve ; 68(6): 850-856, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37814924

RESUMO

INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) leads to diaphragmatic weakness at some point during its course, which is a major cause of respiratory insufficiency. The aim of this study was to evaluate ultrasound-based measures for assessing the diaphragmatic competency and the need for ventilatory support. METHODS: Twenty-six subjects with ALS and 12 healthy controls were enrolled. All participants underwent B-mode diaphragm ultrasound (DUS). Diaphragm thickness and thickening indices were recorded. In the subjects with ALS, further assessments included functional scales and spirometry. We investigated the diagnostic accuracy of DUS thickening indices in predicting diaphragmatic dysfunction and the correlation between clinical, spirometric, and DUS data. RESULTS: Significant relationships were found between forced vital capacity and all diaphragmatic thickening indices. Similarly, all diaphragmatic thickening indices correlated with both Milano Torino staging and disease progression rate. Only thickening fraction (TFdi) correlated with score on the revised ALS Functional Rating Scale (r = 0.459, P = .024). TFdi had better accuracy in predicting diaphragmatic dysfunction (area under the curve [AUC] = 0.839, 95% confidence interval [CI] 0.643 to 0.953) and the need for initiation of noninvasive ventilation (NIV) (AUC = 0.989, 95% CI 0.847 to 1.000) compared with the other indices. A TFdi cut-off point of 0.50 was a sensitive threshold to consider NIV. DISCUSSION: DUS successfully identifies diaphragmatic dysfunction in ALS, being a valuable accessory modality for investigating respiratory symptoms. TFdi was found to be the most useful DUS index, which encourages further investigation.


Assuntos
Esclerose Lateral Amiotrófica , Ventilação não Invasiva , Insuficiência Respiratória , Humanos , Diafragma/diagnóstico por imagem , Esclerose Lateral Amiotrófica/complicações , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Insuficiência Respiratória/diagnóstico por imagem , Insuficiência Respiratória/etiologia , Ultrassonografia
3.
J Community Health ; 47(4): 710-715, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35633424

RESUMO

Exposure of tobacco and alcohol consumption in media and filmmaking has been related to promotion of smoking and drinking in adults. Current regulation aims to restrict tobacco and alcohol advertising in order to avoid alcohol consumption and smoking habits. We aimed to assess the impact of smoking and drinking habits in video-on-demand services. Three independent investigators watched the 50 most popular movies available in Netflix streaming platform, according to York Times and recorded incidence of smoking and drinking scenes for both primary and secondary actors. 45 movies were included in our analysis. Main characters appeared to smoke in 19 movies and to consume alcohol in 33 movies, while secondary characters in 32 movies with 121 scenes and consumed alcohol in 38 movies, respectively. First actors were males in 22 movies, females in 7 movies and both males and females in 6 movies. Movies' directors were males in 29 movies and females in 6 movies. Our analysis found increased content of smoking and drinking scenes in online movies and showed that recently released movies presented with increased incidence of drinking and smoking scenes, while era depicted in movies also affects smoking and drinking content.


Assuntos
Filmes Cinematográficos , Produtos do Tabaco , Consumo de Bebidas Alcoólicas/epidemiologia , Etanol , Feminino , Humanos , Masculino , Fumar/epidemiologia , Nicotiana , Uso de Tabaco
4.
Int J Clin Pract ; 74(2): e13430, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31573732

RESUMO

Background Between 2017 and 2018, Greece experienced a measles outbreak, affecting >3000 patients, most of which were unvaccinated. Measles-associated pneumonia (MAP) is the most common serious compilation of the disease, but very few recent reports regarding its presentation are available. Materials and Methods Between January and May 2018, 11 adult patients presented to our department with acute measles virus infection, hypoxia and findings on chest X-ray. Clinical, laboratory and radiological data were collected and assessed. Nine out of eleven patients had hypoxic respiratory failure. Other complications included hepatitis, cholestasis and myositis, which were observed in the majority of patients. All patients received supplementary oxygen administration, whereas five patients required continuous positive airway pressure ventilation. Scoring of the radiological examinations performed was most notable for the presence of reticular opacities and consolidations. Statistical analysis demonstrated a significant association between PaO2/FiO2 values and the presence of reticular opacities, with PaO2/FiO2 decreasing as the mean value of the reticular opacities score increased (P = .02). Conclusion To our knowledge, this is the first report demonstrating an association between PaO2/FiO2 values and the presence of reticular opacities in patients with MAP. MAP should be suspected in any patient presenting with acute onset hypoxaemia and a reticular pattern on radiological examination, especially in outbreak settings. What is known Measles infections are on the rise in Europe, with epidemics affecting several European countries, resulting from suboptimal immunisation. The most common serious complication of measles is pneumonia, which is more common in adult patients and can cause significant morbidity. It is the most common cause of death due to measles. What is new In this report, we present 11 adults with measles-associated pneumonia, who presented with the combination of acute measles virus infection, hypoxia and findings on chest X-ray. To our knowledge, this is the first report demonstrating an association between the severity of hypoxaemia and the presence of reticular opacities on chest imaging studies.


Assuntos
Hepatite/virologia , Vírus do Sarampo/isolamento & purificação , Sarampo/complicações , Pneumonia Viral/virologia , Adulto , Surtos de Doenças , Feminino , Grécia , Hepatite/complicações , Humanos , Pulmão , Masculino , Sarampo/virologia , Pessoa de Meia-Idade , Pneumonia Viral/complicações , Insuficiência Respiratória/virologia , Tomografia Computadorizada por Raios X
5.
Int J Clin Pract ; 72(2)2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29314425

RESUMO

The use of endobronchial ultrasound trans-bronchial needle aspiration (EBUS-TBNA) as the initial diagnostic and staging procedure in patients with suspected, non-metastatic lung cancer has gained substantial support, and is now recommended by numerous guidelines. Whereas considerable attention has been pointed to the reductions in costs achieved by EBUS-TBNA, that has not been the case for some of its more significant benefits, namely the reduction of the diagnostic work-up time and its ability to accurately assess and restage lymph nodes, which were previously stated incorrectly by CT or PET scan. Both these benefits translate into improved outcomes for patients, as delays are reduced, futile surgeries are prevented and curable operations can be performed on patients previously excluded by CT or PET scan. Indeed, the use of EBUS as the initial diagnostic and staging procedure has been proven to significantly increase survival, compared with conventional diagnostic and staging procedures, in a pragmatic, randomised controlled trial (Navani N. et al, 2015). The instalment of EBUS will have the greatest effect on overwhelmed, suboptimally functioning national healthcare systems, by decreasing the number of required diagnostic and staging procedures, therefore reducing both treatment delays and costs. The improved selection of surgical candidates by EBUS will result in improved patient outcomes. The latest findings regarding the benefits of EBUS are outlined in this review, which, to the best of our knowledge, is the first to emphasise the impact of the procedure, both on timing and costs of lung cancer staging, as well as on survival.


Assuntos
Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico , Custos de Cuidados de Saúde , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patologia , Linfonodos/patologia , Brônquios , Análise Custo-Benefício , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/economia , Endossonografia , Humanos , Metástase Linfática , Estadiamento de Neoplasias/economia , Estadiamento de Neoplasias/métodos , Fatores de Tempo
6.
Sleep Breath ; 20(2): 769-76, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26779901

RESUMO

PURPOSE: Erectile dysfunction (ED) has been linked to obstructive sleep apnea (OSA). This study used computed tomography (CT) to identify cephalometric and upper airway anatomic features in patients with OSA that correlate with the presence of ED. METHODS: In this prospective study, 20 CT cephalometric and upper airway measurements, most commonly associated with OSA, were analyzed in 53 age- and BMI-matched consecutive eligible subjects. Twenty-two were diagnosed with OSA and ED (OSA+/ED+), 17 with OSA without ED (OSA+/ED-), and 14 without OSA and ED (OSA-/ED-) serving as a control group. RESULTS: Although OSA+/ED+ did not differentiate significantly in CT measurements from OSA+/ED-, they showed more alterations when compared to OSA-/ED-, which included narrower bony oropharynx, longer soft palate and uvula (PNS-P), and narrower retropalatal and retrolingual airway diameter (p < 0.05). Binary forward stepwise model analysis showed that PNS-P was the only significant variable in the predictive model for ED in patients with OSA (OR = 1.129, 95 % CI = 1.0005-1.268, p = 0.041). In the OSA+/ED+ group, PNS-P correlated with the percentage of total sleep time with oxygen saturation <90 % (r = 0.61, p < 0.01) and was the only determinant in the relevant predictive model (n = 22, model R = 0.612, adjusted R (2) = 0.337, F = 10.167, p < 0.005). CONCLUSIONS: Characteristics of the craniofacial and upper airway structures suggest that a longer soft palate and uvula may be important risk factors for the concurrence of ED in patients with OSA. Only OSA+/ED+ showed significant narrowing in the retropalatal, retrolingual, and bony oropharynx level when compared with BMI-matched OSA-/ED-.


Assuntos
Resistência das Vias Respiratórias/fisiologia , Cefalometria , Disfunção Erétil/diagnóstico , Orofaringe/diagnóstico por imagem , Palato Mole/diagnóstico por imagem , Palato/diagnóstico por imagem , Apneia Obstrutiva do Sono/diagnóstico , Tomografia Computadorizada por Raios X , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Polissonografia , Estudos Prospectivos , Fatores de Risco , Estatística como Assunto
7.
J Addict Dis ; 41(1): 78-81, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35414349

RESUMO

BACKGROUND: Alcohol-related health and social problems are prevalent in almost all societies that consume alcohol and the presence of alcohol use in the movies is a known issue. The same holds true for smoking prevalence in film-making. OBJECTIVES: The aim of this study is to assess tobacco-related content and alcohol consumption in "The Saint" series and movies. METHODS: Five episodes from each "The Saint" TV series, from the '60s, were randomly selected. A predefined template was used for data collection and multiple variables were recorded and then analyzed. RESULTS: The main character was reported to smoke in 81.9% of episodes and consume alcohol in 87.1% episodes and similar were the results for supporting actors. Mean time to first cigarette and first drink ranged from 0.5 to 40 minutes and from 0.5 to 40.5 minutes, respectively. CONCLUSION: The prevalence of smoking and drinking in "The Saint" movies is high on average; however, the main character has ceased smoking and reduced alcohol consumption in the two contemporary movies, probably following the changes in the era and respecting the law.


Assuntos
Produtos do Tabaco , Humanos , Filmes Cinematográficos , Prevalência , Fumar/epidemiologia , Consumo de Bebidas Alcoólicas/epidemiologia
8.
Mult Scler Relat Disord ; 79: 105016, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37748258

RESUMO

BACKGROUND: Multiple sclerosis (MS) is a chronic demyelinating inflammatory disorder of the central nervous system that may affect respiratory system at the later stages of the disease. The aim of our study was to evaluate respiratory function and cardiopulmonary exercise testing in ambulatory without aid people with MS (pwMS), and to investigate quality of life parameters and fatigue in this population. METHODS: 25 pwMS and 16 healthy controls were included in this study. Pulmonary function tests were performed and were followed by proper cardiopulmonary exercise testing with the use of treadmill. Quality of life assessment was done with SF-36 questionnaire. RESULTS: The mean age of the patient group was 38.4 ± 8.2 years. Spirometric values were within normal limits, and so did lung diffusion capacity, while maximal voluntary ventilation was reduced. In cardiopulmonary exercise testing the patient group showed impairment compared to control group. The statistically significant lower parameters were V'O2 peak, V'CO2 peak, RER, V'O2/kg peak, V'CO2/kg peak, oxygen pulse peak and V'E/V'CO2 slope. Moreover, there was a negative and statistically significant correlation between CPET values and BMI and MFIS, while there was a positive and statistically significant correlation with quality of life, evaluated by SF-36. CONCLUSION: Our study showed that the main cardiopulmonary exercise testing parameters were affected in ambulatory pwMS, even without evidence of respiratory symptoms. Therefore, these people should be evaluated for pulmonary function compromise.


Assuntos
Teste de Esforço , Esclerose Múltipla , Humanos , Adulto , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Dióxido de Carbono , Qualidade de Vida , Testes de Função Respiratória , Doença Crônica
9.
Acta Neurol Belg ; 122(3): 721-724, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34585321

RESUMO

OBJECTIVE: The coronavirus disease 2019 (COVID-19) pandemic has urged the adoption of telemedicine services as a measure of greater patients' safety. This study aims to investigate efficacy and feasibility of teleneurology care for patients with neuromuscular diseases (NMD). METHODS: All patient visits from 4th March 2020 to 27th March 2021, the period of COVID-19 lockdown requiring partial transition to tele-consultation, were reviewed. Demographic data and medical records during the implementation of the "hybrid model" of both remote and in-person visits during COVID-19 era were analyzed and compared to those of the pre-pandemic era. RESULTS: A total of 2179 tele-consultation contacts for 182 patients (mean age 46.4 years, 42.3% female) were conducted. Tele-consultation was primarily performed by telephone calls. During that period, 1745 telephone calls were conducted, resulting in a 4.5 mean increase/patient compared to 2019. There was a 15.1% decrease in first time in-person consultations compared to 2019. However, the mean number of monitoring visits per person during pandemic was no different from previous years. With the exception of 3 patients with advanced stage of amyotrophic lateral sclerosis, no other patients required an unscheduled appointment or hospitalization for unforeseen reasons related to tele-consultation restrictions. CONCLUSION: Monitoring of NMD patients could benefit from tele-provided multidisciplinary services. The experience gained during COVID-19 pandemic could be useful for further development of tele-medicine.


Assuntos
COVID-19 , Doenças Neuromusculares , Controle de Doenças Transmissíveis , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neuromusculares/epidemiologia , Doenças Neuromusculares/terapia , Pandemias , SARS-CoV-2
10.
J Asthma Allergy ; 15: 89-98, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35082501

RESUMO

BACKGROUND: Children with uncontrolled asthma are less tolerant to exercise due to ventilatory limitation, exercise-induced bronchoconstriction (EIB), or physical deconditioning. The contribution of these factors in children with controlled mild-to-moderate asthma is unknown. OBJECTIVE: To explore the underlying mechanisms of reduced exercise capacity in children with controlled mild-to-moderate asthma. METHODS: This was a cross-sectional study of 45 children and adolescents (age 8-18 years) with controlled mild-to-moderate asthma (asthma control test score 21-25) and 61 age-matched healthy controls. All participants completed a physical activity questionnaire and performed spirometry and cardiopulmonary exercise testing (CPET; maximal incremental protocol). Spirometric indices and CPET parameters were compared between the two groups. The effect of EIB (FEV1 decrease >10% post CPET), ventilatory limitation and physical deconditioning on maximum oxygen uptake (O2peak), was assessed by multivariable linear regression. RESULTS: 62.2% of children with asthma and 29.5% of controls (P = 0.002) were categorized as inactive. Reduced exercise capacity (O2peak <80%) was noted in 53.3% of asthmatics and 16.4% of controls (P < 0.001). EIB was documented in 11.1% of participants with asthma. Physical deconditioning was noted in 37.8% of children with asthma and in 14.8% of controls (P = 0.013). Physical deconditioning emerged as the only significant determinant of O2peak, irrespective of asthma diagnosis, body mass index, ventilatory limitation and EIB. CONCLUSION: Children with controlled mild-to-moderate asthma are less tolerant to strenuous exercise than their healthy peers. The decreased exercise capacity in this population should mainly be attributed to physical deconditioning, while the contribution of ventilatory limitation and EIB is rather small.

11.
Joint Bone Spine ; 89(1): 105249, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34265476

RESUMO

OBJECTIVE: Osteoporosis is highly prevalent among patients with chronic obstructive pulmonary disease (COPD) and most commonly presents as a vertebral compression fracture (VCF). Our objective was to quantify the effect of osteoporosis and VCFs on the mortality and pulmonary function tests (PFTs), such as forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC), of patients with COPD. METHODS: A PubMed/Medline search was conducted using the search terms "chronic obstructive pulmonary disease", "osteoporosis" and "vertebral compression fracture". Meta-analyses were conducted to evaluate the differences in mortality and PFTs between patients with COPD with and without osteoporosis or VCFs, according to PRISMA guidelines. PROSPERO registration: CRD42019120335. RESULTS: Of the 896 abstracts identified, 27 studies describing 7662 patients with COPD of which 1883 (24.6%) had osteoporosis or VCFs, were included. Random effects model analysis demonstrated that patients with COPD and osteoporosis or VCFs had an increased OR for mortality of 2.40 (95% CI: 1.24; 4.64, I2=89%, P<0.01), decreased FEV1/FVC with a mean difference of -4.80% (95% CI: -6.69; -2.90, I2=83%, P<0.01) and decreased FEV1, with a mean difference of -4.91% (95% CI: -6.51; -3.31, I2=95%, P<0.01) and -0.41 L (95% CI: -0.59; -0.24, I2=97%, P<0.01), compared to control subjects. Apart from FEV1 (liters) in subgroup 1 (P=0.06), all subgroup analyses found significant differences between groups, as did sensitivity analysis of low risk of bias studies. CONCLUSION: Osteoporosis and VCFs are associated with a significant reduction in survival and pulmonary function among patients with COPD.


Assuntos
Fraturas por Compressão , Osteoporose , Doença Pulmonar Obstrutiva Crônica , Fraturas da Coluna Vertebral , Volume Expiratório Forçado , Humanos , Doença Pulmonar Obstrutiva Crônica/complicações , Fraturas da Coluna Vertebral/epidemiologia
12.
Curr Med Chem ; 28(26): 5328-5338, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33297909

RESUMO

A newly identified virus appeared in Wuhan, China, in December 2019, was named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and caused the coronavirus disease 2019 (COVID-19). SARS-CoV-2 presents similarities with two previous coronavirus pandemics, MERS (Middle East Respiratory Syndrome) and SARSCoV, concerning phylogenetic origin, structural composition, and clinical symptoms, thus, leading to common pathogenic mechanisms. The purpose of this review is to declare the role of interleukin-6 (IL-6) in the pathogenesis, prognosis, and treatment of COVID-19 by comparing its effect on SARS-CoV and MERS cases. Increased levels of IL-6 comprise the key for the stimulation of cytokine storm and the progression of SARS, MERS, and COVID-19 cases. Especially, in COVID-19 patients, the overactivation of NF-kΒ, which is caused by the binding of coronavirus spike protein S to alveolar epithelial cells, up-regulates IL-6 and promotes its systematic circulation, causing alveolar damage and extrapulmonary injury. Additionally, IL-6 can be used to evaluate respiratory failure and identify asymptomatic patients. Tocilizumab (TCZ), a monoclonal antibody which blocks IL-6 signaling, comprises a remedial option against COVID-19. TCZ improves oxygenation, reduces fever, and decreases levels of IL-6. IL-6 plays a major role in the pathogenesis of cytokine storm and the progression of COVID-19 and may be used as a therapeutic target against COVID-19. However, further research is needed concerning the relation of IL-6 in COVID-19 cases, and more clinical trials are required to declare TCZ as a treatment option.


Assuntos
COVID-19 , Interleucina-6 , COVID-19/imunologia , Humanos , Interleucina-6/imunologia , Filogenia , Prognóstico
13.
Breathe (Sheff) ; 15(3): 234-240, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31508161

RESUMO

The Lung Science Conference and the Sleep and Breathing Conference 2019 brought together leading experts in the field to discuss the latest cutting-edge science, as well as various career development opportunities for early career members http://bit.ly/2XNX6V6.

14.
Mini Rev Med Chem ; 8(9): 934-42, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18691151

RESUMO

Asthma is a chronic heterogeneous inflammatory disease of the respiratory system in which numerous cytokines play a significant role. Among them TNF-alpha (tumour necrosis factor alpha), a proinflammatory cytokine, has a predominant role in orchestrating airway inflammation and affecting treatment outcome. In this review we attempt to summarize the involvement of TNF-alpha in the pathogenesis of asthma, illustrate variations of TNF-alpha gene that potentially influence asthma phenotype and highlight promising therapies by blocking the production of TNF-alpha or inhibiting its action. A cytokine specific target therapy seems to be very promising since agents that block TNF-alpha slow disease progression, suppress inflammation and in some cases induce remission of chronic inflammation.


Assuntos
Asma/tratamento farmacológico , Asma/genética , Farmacogenética/métodos , Fator de Necrose Tumoral alfa/genética , Fator de Necrose Tumoral alfa/metabolismo , Corticosteroides/metabolismo , Química Farmacêutica/métodos , Citocinas/metabolismo , Desenho de Fármacos , Humanos , Inflamação , Modelos Biológicos , Modelos Químicos , Conformação Molecular , Fenótipo , Transdução de Sinais
15.
Postgrad Med J ; 83(978): 244-50, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17403951

RESUMO

Asthma and chronic obstructive pulmonary disease (COPD) are complex genetic diseases that cause considerable morbidity and mortality worldwide. Genetic variability interacting with environmental and ethnic factors is presumed to cause tobacco smoke susceptibility and to influence asthma severity. A disintegrin and metalloproteinase 33 (ADAM33) and matrix metalloproteinase-9 (MMP9) appear to have important roles in asthma and COPD pathogenesis. ADAM33 and MMP9 genetic alterations could possibly contribute to the establishment and progression of these multifactorial diseases, although their association with the clinical phenotypes has not yet been elucidated. However, the occurrence of these alterations does not always result in clear disease, implying that either they are an epiphenomenon or they are in proximity to the true causative alteration. This review summarises the most recent literature dealing with the genetic variations of metalloproteinases and outlines their potential pathogenetic outcome.


Assuntos
Asma/genética , Sequência de Bases/genética , Metaloproteases/genética , Doença Pulmonar Obstrutiva Crônica/genética , Proteínas ADAM/genética , Variação Genética/genética , Humanos , Fenótipo
16.
Sleep Med ; 35: 80-84, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28619187

RESUMO

BACKGROUND: Sodium oxybate is licensed in Europe for the treatment of narcolepsy with cataplexy in adults. The aim of this study was to assess the efficacy and safety of sodium oxybate in clinical practice in patients with narcolepsy and cataplexy refractory to other treatments. MATERIALS AND METHODS: This was a retrospective single centre study including patients with severe narcolepsy with cataplexy refractory to other treatments, who were initiated on sodium oxybate between 2009 and 2015. Patients were allowed to be on other stimulants or/and anti-cataplectic agents. Epworth sleepiness scale (ESS) and weekly cataplexy events were recorded. Side effects (SEs) were recorded at every follow-up visit. RESULTS: 90 patients were prescribed sodium oxybate, with a total of 3116 patient-months of drug exposure. ESS and weekly cataplexy events were significantly reduced by sodium oxybate for all patients (ΔESS = 4.3 ± 4.4 and Δcataplexy = 21.8 ± 18.5 events/week; p < 0.0001, respectively). The required maintenance dose could not be predicted based upon gender, body mass index, or clinical factors. 60% of patients were able to reduce or come off other medications. Half of the patients experienced at least one SE, and 26.6% had to stop treatment due to limiting SEs. Nausea, mood swings and enuresis were the most commonly reported SEs. SEs that led to drug discontinuation, particularly psychosis, were associated with increasing age and were observed early after the initiation of the drug. CONCLUSIONS: Sodium oxybate provides a good clinical efficacy and acceptable safety profile in routine clinical practice for the treatment of patients suffering from narcolepsy with cataplexy. A quarter of patients experience SEs requiring withdrawal of the drug with older patients being more vulnerable to the more serious SEs.


Assuntos
Narcolepsia/tratamento farmacológico , Oxibato de Sódio/efeitos adversos , Oxibato de Sódio/uso terapêutico , Promotores da Vigília/efeitos adversos , Promotores da Vigília/uso terapêutico , Adulto , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
17.
Sleep Med ; 32: 222-226, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27539028

RESUMO

OBJECTIVES: Catathrenia is an uncommon and poorly understood disorder, characterized by groaning during sleep occurring in tandem with prolonged expiration. Its classification, pathogenesis, and clinical relevance remain debated, substantially due to the limited number of cases reported to date. We report a series of consecutive cases of catathrenia, their clinical and polysomnographic characteristics, and their subsequent management. METHODS: Consecutive patients with catathrenia who had undergone full polysomnography in our institution over a 5.5-year period were included. Catathrenia events (CEs) were examined in clusters, which formulated catathrenia periods (CPs). The relationships between CPs, sleep stage distribution, electroencephalogram (EEG) arousals, and other sleep parameters were assessed, along with the clinical presentation and management of catathrenic patients. RESULTS: A total of 427 CPs were identified in 38 patients, 81% arising from rapid eye movement (REM) sleep. EEG arousals preceded or coincided with the onset of 84% of CPs, which were of longer duration than those not associated with an arousal (57.3 ± 56.8 vs. 32.2 ± 29.4 s, p < 0.001). Each CE had a characteristic airflow signal, with inspiration preceding a protracted expiration and a brief more rapid exhalation, followed by deep inspiration. Although the majority of patients were referred on the basis of bed partner complaints, 44.7% complained of daytime sleepiness. Continuous positive airway pressure therapy and sleep-consolidating pharmacotherapy led to subjective improvement, but were limited by poor long-term adherence. CONCLUSIONS: In the largest series of catathrenia patients reported to date, we found that this rare disorder is characterized by a distinct breathing pattern and arises predominantly from REM sleep, with arousals almost uniformly preceding or coinciding with the onset of CPs.


Assuntos
Parassonias/fisiopatologia , Adulto , Nível de Alerta/fisiologia , Terapia Cognitivo-Comportamental , Pressão Positiva Contínua nas Vias Aéreas , Eletroencefalografia , Feminino , Humanos , Hipnóticos e Sedativos/uso terapêutico , Masculino , Parassonias/terapia , Polissonografia , Sono REM/fisiologia
18.
J Thorac Dis ; 8(2): 282-6, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26904269

RESUMO

BACKGROUND: This is the first study that aimed to look specifically at the utility of the 5(th) nap in the multiple sleep latency test (MSLT), a test used to assist in the diagnosis of narcolepsy. METHODS: Data was retrospectively collected from the Sleep Disorders Centre of a Tertiary Hospital on patients that had a 5(th) nap during their MSLT from the 08(th) November 2011 to 12(th) November 2014. RESULTS: Fifty-three patients had a 5(th) nap performed out of 378 MSLT studies. In 16% of cases a diagnosis of narcolepsy was given directly due to the inclusion of the 5(th) nap on the MSLT. Here a 5(th) nap allowed diagnostic criteria of mean sleep latency <8 minutes and >2 SOREMPS to be met. In 53% of cases the mean sleep latency increased due to 5(th) nap inclusion; the mean sleep latency of the first four naps was 5.6 vs. 6.7 after inclusion of the 5(th) nap. CONCLUSIONS: The 5(th) nap is not often performed within the MSLT studies. Our study shows that only a few patients may benefit from a 5(th) nap opportunity which also led to increase of the mean sleep latency at the expense of extra time, cost, labour and increased patient anxiety.

19.
BMC Res Notes ; 7: 417, 2014 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-24993796

RESUMO

BACKGROUND: Working on shifts, especially on a night shift, influences the endogenous sleep regulation system leading to diminished sleep time and increased somnolence. We attempted to evaluate the impact of shifts on sleepiness and correlate the sleepiness score to the experience in a shift schedule. MATERIALS AND METHODS: This cross-sectional study consists of 42 male and 2 female workers involved in a tunnel construction. They underwent spirometry, pulse oximetry and were asked to complete the Epworth Sleepiness Scale questionnaire. RESULTS: Statistical analysis revealed that workers of lower Epworth had a mean age of 43.6 years, compared to the mean age of 36.4 years of workers with higher Epworth. Furthermore, workers of lower Epworth were characterized by a mean number of shift years equal to 14.8, while those of higher Epworth possessed a mean number of shift years equal to 8. The shift schedule did not reveal any statistically significant correlation. CONCLUSIONS: Workers employed for a longer time had diminished sleepiness. However, there is no relationship between night shifts and sleepiness, possibly because of exposure to artificial lighting in the construction site.


Assuntos
Distúrbios do Sono por Sonolência Excessiva/prevenção & controle , Vigília/fisiologia , Tolerância ao Trabalho Programado/fisiologia , Adulto , Ritmo Circadiano/fisiologia , Indústria da Construção , Estudos Transversais , Feminino , Humanos , Luz , Iluminação , Masculino , Pessoa de Meia-Idade , Oximetria , Espirometria , Inquéritos e Questionários , Fatores de Tempo , Local de Trabalho/organização & administração
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