69 research outputs found

    PPARγ Pro12Ala and ACE ID polymorphisms are associated with BMI and fat distribution, but not metabolic syndrome

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    <p>Abstract</p> <p>Background</p> <p>Metabolic Syndrome (MetS) results from the combined effect of environmental and genetic factors. We investigated the possible association of peroxisome proliferator-activated receptor-γ2 (PPARγ2) Pro12Ala and Angiotensin Converting Enzyme (ACE) I/D polymorphisms with MetS and interaction between these genetic variants.</p> <p>Methods</p> <p>Three hundred sixty four unrelated Caucasian subjects were enrolled. Waist circumference, blood pressure, and body mass index (BMI) were recorded. Body composition was estimated by impedance analysis; MetS was diagnosed by the NCEP-ATPIII criteria. A fasting blood sample was obtained for glucose, insulin, lipid profile determination, and DNA isolation for genotyping.</p> <p>Results</p> <p>The prevalence of MetS did not differ across PPARγ2 or ACE polymorphisms. Carriers of PPARγ2 Ala allele had higher BMI and fat-mass but lower systolic blood pressure compared with Pro/Pro homozygotes. A significant PPARγ2 gene-gender interaction was observed in the modulation of BMI, fat mass, and blood pressure, with significant associations found in women only. A PPARγ2-ACE risk genotype combination for BMI and fat mass was found, with ACE DD/PPARγ2 Ala subjects having a higher BMI (p = 0.002) and Fat Mass (p = 0.002). Pro12Ala was independently associated with waist circumference independent of BMI and gender.</p> <p>Conclusions</p> <p>Carriers of PPARγ2 Ala allele had higher BMI and fat-mass but not a worse metabolic profile, possibly because of a more favorable adipose tissue distribution. A gene interaction exists between Pro12Ala and ACE I/D on BMI and fat mass. Further studies are needed to assess the contribution of Pro12Ala polymorphism in adiposity distribution.</p

    Diagnostic Accuracy of Obstructive Airway Adult Test for Diagnosis of Obstructive Sleep Apnea

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    Rationale. The gold standard for the diagnosis of Obstructive Sleep Apnea (OSA) is polysomnography, whose access is however reduced by costs and limited availability, so that additional diagnostic tests are needed. Objectives. To analyze the diagnostic accuracy of the Obstructive Airway Adult Test (OAAT) compared to polysomnography for the diagnosis of OSA in adult patients. Methods. Ninety patients affected by OSA verified with polysomnography (AHI ≥ 5) and ten healthy patients, randomly selected, were included and all were interviewed by one blind examiner with OAAT questions. Measurements and Main Results. The Spearman rho, evaluated to measure the correlation between OAAT and polysomnography, was 0.72 ( &lt; 0.01). The area under the ROC curve (95% CI) was the parameter to evaluate the accuracy of the OAAT: it was 0.91 (0.81-1.00) for the diagnosis of OSA (AHI ≥ 5), 0.90 (0.82-0.98) for moderate OSA (AHI ≥ 15), and 0.84 (0.76-0.92) for severe OSA (AHI ≥ 30). Conclusions. The OAAT has shown a high correlation with polysomnography and also a high diagnostic accuracy for the diagnosis of OSA. It has also been shown to be able to discriminate among the different degrees of severity of OSA. Additional large studies aiming to validate this questionnaire as a screening or diagnostic test are needed

    The predictive value of Muller's maneuvre for CPAP titration in OSAHS patients

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    To investigate the role of awake upper airways (UA) endoscopy assessment as a parameter of prediction for CPAP titration in OSAHS patient therapy. Retrospective analysis of UA endoscopic assessment with Mueller's maneuvre and the application of the nose oropharynx hypopharynx score (NOHs) was conducted to obtain a numeric score representing the grade of severity of UA obstruction. Other commonly used predictive parameters for CPAP titration were also included in the study: anthropometric [BMI, neck circumference (NC)] and polysomnographic parameters (AHI, ODI). 3 groups of patients were identified: (1) 67/90 patients requiring intermediate CPAP values, (2) 13/90 patients requiring high CPAP values, and (3) 10/90 patients requiring low pressure values. BMI (p = 0.0013) was the only monitored parameter to show significant statistical value as a CPAP titration predictor. However, higher values of anthropometric parameters (NOHs â\u89¥9, BMI >35, NC >45) showed a sensitivity of 69.2 % as a single parameter and 76.9 % as combined parameters, and specificity between 66.2 and 72.7 % as a single parameter and 43.4 % as combined parameters, unequivocally identifying patients requiring high therapeutic CPAP value. A lower cut-off of anthropometric parameters (NOHs â\u89¤6, BMI â\u89¤29, NC <42) showed sensitivity between 40 and 60 % as a single parameter and of 90 % as combined parameters, and specificity between 68.7 and 80.2 % as a single parameter which increased to 93.7 % as combined parameters, identifying patients requiring a low therapeutic CPAP value. The results show that anthropometric and polygraphic parameters have no significant independent predictive value for CPAP titration, with the exception of BMI. However, anthropometric parameters showed good levels of sensitivity and specificity in OSAHS patients requiring high or low levels of CPAP therapy. © 2013 Springer-Verlag Berlin Heidelberg

    Accuracy of positive airway pressure titration through telemonitoring of auto‐adjusting positive airway pressure device connected to a pulse oximetry in patients with obstructive sleep apnea

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    Abstract Purpose In COVID‐19 era, all forms of access of patients to the sleep units should be reduced as much as possible when implementing telemedicine. In the field of obstructive sleep apnea (OSA) therapy with positive airway pressure (PAP) devices, telemedicine includes the use of built‐in software (BIS) and storage of PAPs and remote‐controlled data (BISrc data) that are processed and transmitted daily to sleep units. We compared two methods of evaluating the final residual severity of OSA patients in home PAP titration: BISrc data versus nocturnal portable multichannel monitoring (PM) data in PAP (reference method) and to verify whether the efficacy PAP therapy guided by BISrc data was clinically adequate. Methods We conducted a real‐life prospective study in newly diagnosed patients with OSA. Patients used an auto‐adjusting positive airway pressure (AirSense 10 ResMed) with a pulse oximeter that allows daily transfer of BISrc data (apnea hypopnea index [AHI] and SaO2) and remote changes in ventilator setting. Once the PAP titration was completed, the pressure value or ranges were kept constant for 3 days and home PM was repeated. Results There were 41 patients with moderate to severe OSA who completed the study. When considering AHI only, the diagnostic accuracy of BISrc on the third day was equal to 97.5%; when considering AHI > 10/h, ODI > 10/h, and SaO2 < 90%, the diagnostic accuracy slightly decreased to 90.2%. Conclusion In clinical practice, the two measurement methods are equivalent. The use of BISrc data for home titration would reduce the access to sleep units. We urge that widespread use of BISrc be promoted in the current practice of management of OSA

    Incidence and prevalence of systemic lupus erythematosus in a district of north Italy.

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    The objective of this study was to investigate the incidence and the prevalence of systemic lupus erythematosus (SLE) in an area of northeast Italy. We retrospectively examined all patients of 16 years and older of native Italian origin and resident in Ferrara district either admitted to hospital or referred to our outpatient clinic with a diagnosis of SLE determined between 1 January 1996 and 31 December 2002. SLE subjects were identified both by a search of hospital discharge code 710.0 according to the international classification of diseases-9 codes, and using a computerized search for this pathology code in the national health care system. Incidence and prevalence rates were calculated as number of cases per 100 000 inhabitants. Population data were based on the 2002 National Census. A total of 299 cases of SLE were identified. After a review of all cases by one experienced investigator, 98 were excluded because did not satisfied the 1982 revised criteria of the American College Rheumatology. Therefore, 201 patients had a definite diagnosis of SLE. The prevalence of SLE in the district was 57.9/100 000. The mean age at diagnosis was 41 years, the average duration of the disease from symptoms onset to diagnosis was 4.8 years and the female/male ratio 9:1. Annual incidence in 2000 was 2.01/100000, in 2001 1.15/100000 and in 2002 2.6/100000. This is the first study dealing with prevalence and incidence of SLE in an Italian district. Data obtained concerning prevalence, incidence, age at diagnoses and female predominance are in agreement with those published in literature

    The importance of obstructive sleep apnoea and hypopnea pathophysiology for customized therapy

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    The objective of this study is to highlight the importance of anatomical and not-anatomical factorsâ\u80\u99 identification for customized therapy in OSAHS patients. The data sources are: MEDLINE, The Cochrane Library and EMBASE. A systematic review was performed to identify studies that analyze the role of multiple interacting factors involved in the OSAHS pathophysiology. 85 out of 1242 abstracts were selected for full-text review. A variable combinations pathophysiological factors contribute to realize differentiated OSAHS phenotypes: a small pharyngeal airway with a low resistance to collapse (increased critical closing pressure), an inadequate responses of pharyngeal dilator muscles (wakefulness drive to breathe), an unstable ventilator responsiveness to hypercapnia (high loop gain), and an increased propensity to wake related to upper airway obstruction (low arousal threshold). Identifying if the anatomical or not-anatomical factors are predominant in each OSAHS patient represents the current challenge in clinical practice, moreover for the treatment decision-making. In the future, if a reliable and accurate pathophysiological pattern for each OSAHS patient can be identified, a customized therapy will be feasible, with a significant improvement of surgical success in sleep surgery and a better understanding of surgical failure

    Qualitative Phenotyping of Obstructive Sleep Apnea and Its Clinical Usefulness for the Sleep Specialist

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    Introduction: The anatomical collapsibility of the upper airway, neuromuscular tone and function, sleep&ndash;wake and ventilatory control instability, and the arousal threshold all interact and contribute to certain pathophysiologic features that characterize different types of obstructive sleep apnea (OSA). A model of qualitative phenotypizationallowsus to characterize the different pathophysiological traits in OSA patients.Methods: A narrative review was performed, to analyze the available literature evidence, with the purpose of generating a model of qualitative phenotypization to characterize pathophysiological traits in patients with OSA.Results: 96 out of 3829 abstracts were selected for full-text review. Qualitative phenotyping model of OSA:Data concerning the OSA qualitative pathophysiological traits&rsquo; measurement can be deducted by means of clinical PSG, grade of OSA severity, and therapeutic level of Continuous Positive Airway Pressure (CPAP) and are reported in the text. This approach would allow qualitative phenotyping with widely accessible methodology in a routine clinical scenario and is of particular interest for the sleep specialist, surgical treatment decision-making, and customized OSA multimodality treatment

    Sleep and respiratory sleep disorders in idiopathic pulmonary fibrosis

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    Idiopathic pulmonary fibrosis (IPF) is an interstitial lung disease (ILD) characterized by inflammation and progressive scarring of the lung parenchyma. IPF profoundly affects the quality of life (QoL) and fatigue is a frequently disabling symptom. The cause of fatigue is not well understood but patients with IPF often report extremely poor sleep quality and sleep-related breathing disorders (SRBD) that correlate with QoL. IPF patients present alterations in sleep architecture, including decreased sleep efficiency, slow wave sleep and rapid eye movement (REM) sleep, and increased sleep fragmentation. Moreover, sleep related hypoventilation during the vulnerable REM sleep period and obstructive sleep apnea-hypopnea syndrome (OSAHS) are frequent, but remain usually underdiagnosed. These SRBD in IPF are associated with alterations of the sleep structure, reduction of QoL and increased risk of mortality. In the absence of an effective therapy for IPF, optimizing the QoL could become the primary therapeutic goal. In this perspective the diagnosis and treatment of SRBD could significantly improve the QoL of IPF patients

    The memory of water: Archaeobotanical evidence of wetland plants from Modena (Emilia-Romagna, northern Italy) and palaeoecological remarks

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    International audienceModena, founded by the Romans (183 BC), has always been conditioned by water in all its urban history. In the city,numerous archaeobotanical investigations have been carried out in order to reconstruct the natural landscape and human–environment interactions over time. During these investigations, four archaeological sites (two Roman and two medieval)have revealed deposits with a marked character of palaeobiocoenosis, largely resulting from the natural environmentsurrounding the sites, due to natural “seed rain”. These deposits are characterized by widespread evidence of plants related towater, constituting a valuable archive to investigate habitats which currently have become very rare and threatened, if theyhave not completely disappeared. The present paper aims to reveal the peculiarities of the Roman/medievalarchaeocarpological floristic lists (through a comparison with the flora over the last two centuries in the area of Modena)and highlight the possible causes explaining the presence or the demise of several taxa, considering also the palaeoecologicalreconstruction of the environment in which they have been found
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