Functional Diagnostic Test Research Articles

Differential Functional Changes in Visual Performance during Acute Exposure to Microgravity Analogue and Their Potential Links with Spaceflight-Associated Neuro-Ocular Syndrome.

Spaceflight-Associated Neuro-Ocular Syndrome (SANS) is a complex pathology threatening the health of astronauts, with incompletely understood causes and no current specific functional diagnostic or screening test. We investigated the use of the differential performance of the visual system (central vs. perimacular visual function) as a candidate marker of SANS-related pathology in a ground-based microgravity analogue. We used a simple reaction time (SRT) task to visual stimuli, presented in the central and perimacular field of view, as a measure of the overall performance of the visual function, during acute settings (first 10 min) of vertical, bed rest (BR), -6°, and -15° head-down tilt (HDT) presentations in healthy participants (n = 8). We built dose-response models linking the gravitational component to SRT distribution parameters in the central vs. perimacular areas. Acute exposure to microgravity induces detectable changes between SRT distributions in the perimacular vs. central retina (increased mean, standard deviation, and tau component of the ex-Gaussian function) in HDT compared with vertical presentation. Functional testing of the perimacular retina might be beneficial for the earlier detection of SANS-related ailments in addition to regular testing of the central vision. Future diagnostic tests should consider the investigation of the extra-macular areas, particularly towards the optic disc.

Optimization of functional diagnostic test: the effect of kernel method as an estimator of ROC curve

Technical development over the last few decades has resulted in the emergence of complex data, in many cases functional data (FD). This type of data can emerge in many medical studies which are geared towards detecting diseases, predicting their course or evaluating the response to a therapy, to name a few. Thus, it is very useful to have statistical methods enabling us to evaluate diagnostic tests based on functional biomarkers. In fact, a diagnostic test that uses functional variables as biomarkers has been developed recently. Their authors proposed a functional version of ROC analysis, resulting in an empirical estimate of the functional ROC curve. In order to improve this methodology, the present paper proposes a procedure to obtain a smooth version of non-parametric estimator of the ROC curve. In addition, a comprehensive simulation study lets to investigate the discriminatory and predictive abilities of the resulting functional diagnostic test. Two examples with real medical data illustrate the approach developed: one deals with gene expression levels for tumoural/normal samples of prostate cancer; the other dataset is about white matter structures in the brain in multiple sclerosis patients.

Fascia Tissue Manipulations in Chronic Low Back Pain: A Pragmatic Comparative Randomized Clinical Trial of the 4xT Method® and Exercise Therapy.

The 4xT method is a protocolized practice in treating musculoskeletal disorders. The 4xT method consists of four components: Test (functional diagnostic test), Trigger (fascia tissue manipulations), Tape (elastic taping), and Train (exercise). There is a lack of clinical studies evaluating the treatment effects of the use of the 4xT method. A randomized controlled trial was conducted to compare the effectiveness of the 4xT method and exercise therapy-only in patients with chronic nonspecific low back pain. Based on a priori sample size calculation, fifty-one individuals with chronic nonspecific low back pain were randomly assigned to either the 4xT or exercise group. Both groups underwent a six-week rehabilitation program with two treatments per week. The primary outcomes were trunk flexion and extension mobility, trunk flexion, and extension mobility-dependent pain, and quality of life evaluated during a 6-week therapy period and after a 6-week therapy-off period. Interaction effects were noted in all outcomes. The 4xT group showed significant improvements over time for trunk flexion and extension mobility, trunk flexion and extension mobility-dependent pain, and quality of life (p < 0.05), with no significant relapse post-therapy (except for extension mobility). The exercise group exhibited significant within-time changes in the quality of life, as measured with the VAS (p < 0.05), but not for EQ-5D-3L. The results of this study demonstrate that the 4xT method stands out as a promising and impactful treatment option for chronic nonspecific low back pain individuals, as it demonstrated significant reductions in mobility-dependent pain, increased trunk mobility, and improved quality of life compared to exercise-only treatments.

Oscillometry: clinical significance and applications

Oscillometry (the forced oscillation technique) is widely used in the Russian Federation. It is a simple, noninvasive functional diagnostic test that offers unique advantages in cases where spirometry and other pulmonary function tests are not appropriate, such as in young children, debilitated patients, or patients with physical and cognitive barriers to performing tests that require effort and coordination.The aim of this study was to analyze scientific literature data and our own results and to evaluate the significance and applications of oscillometry in clinical practice. The review examined the physiological principles of oscillometry and the basis for interpreting the results. Oscillometry is now recognized as a sensitive diagnostic tool for assessing airway resistance. This article describes sensitivity of the method for bronchodilation and bronchoprovocation tests, as well as its response to drug treatment, especially in asthma and chronic obstructive pulmonary disease. Oscillometry is a useful tool for diagnosing obstructive ventilation disorders. It should be used as an addition to spirometry to clarify phenotypes of small airways diseases. However, despite its great promise as a useful diagnostic tool, further evidence of its clinical utility in restrictive conditions is needed.Conclusion. Thus, oscillometry can be considered an addition and sometimes an alternative to spirometry and bronchodilation test, since it is well standardized. The test results are highly reproducible, the study does not require maximum effort, and the test is carried out during spontaneous tidal breathing.

The role of stress reactions in the genesis of menstrual cycle disorders in recurrent urinary tract infections in minors

BACKGROUND. Extragenital diseases, including recurrent urinary tract infections, have an adverse effect on the reproductive health of children and adolescents. Vaginitis and menstrual cycle disorders, including primary oligomenorrhea, predominate in the structure of gynecological morbidity of minors suffering from recurrent UTIs.THE AIM: to study the role of stress reactions in the genesis of various variants of menstrual cycle disorders in minors suffering from recurrent UTIs to improve the dispensary management of this cohort of patients. PATIENTS AND METHODS. A prospective study was conducted in 98 adolescent girls aged 16 to 18 years. Taking into account the nature of the clinical course of UTI, all the subjects were divided into 3 groups: group 1 (n=41) – patients with UTI; group 2 (n=27) patients with frequent recurrence of UTI (more than 3 times a year (rIMP); group 3 (n=30) – minors, 1, 2 health groups with no IPM episode. A specialized gynecological examination, functional diagnostic tests, ultrasound examination of the placemark and ovaries, determination of cortisol, norepinephrine, adrenaline by enzyme immunoassay were carried out. Statistical analysis was performed using the program "SPSS Statistics 17.0 for Windows".RESULTS. Anovulation was observed in patients with frequent recurrence of UTI. Copious and prolonged menstruation, uterine bleeding and primary oligomenorrhea were observed only in patients with recurrent UTIs. In this cohort, inflammatory gynecological diseases take a chronic course. Polycystic ovarian syndrome (40.7 %) and chronic salpingoophoritis (44.4 %) were often detected in patients with frequently recurrent UTI. In patients suffering from UTI, in contrast to the data of the comparison group, there were significant violations of the nature of adaptive reactions, and changes in antistress reactions and their levels differed depending on the variant of the course of the microbial-inflammatory process. In patients with rare relapses of UTI, antistress reactions of a high level of reactivity prevailed, but there were reactions of calm and increased activation, training that took place at low levels of reactivity.CONCLUSION. Adaptive-compensatory disorders were revealed in almost every patient with recurrent UTI. Considering that stress is especially pathogenic during puberty, when hormonal and psychophysiological restructuring of the body occurs, prevention and complex therapy of microbial-inflammatory diseases of the urinary system in this category of patients should be carried out taking into account the formation of reproductive function and the severity of adaptation reactions.

The Urogynecology Section of the Polish Society of Gynecologists and Obstetricians Guideline for the diagnostic assessment of stress urinary incontinence in women.

The aim of the Urogynecology Section of the Polish Society of Gynecologists and Obstetricians (PSGO) was to develop an updated Guideline for the diagnostic assessment of stress urinary incontinence (SUI) in women. Earlier PSGO guidelines and the literature about the diagnostic assessment of SUI, including current international guidelines, were reviewed. As in the earlier guidelines, the diagnostic process was subdivided into the initial and the specialized diagnostics. Patients who required specialized diagnostic testing were identified. Functional diagnostic tests, performed by physiotherapists, were included. Attention was paid to new diagnostic possibilities. Initial diagnostic assessment is sufficient to devise the optimal treatment plan in a number of patients. It also allows to identify which patients will require specialized diagnostics, whose scope is individually tailored to the patient needs and depends on symptom complexity, surgical history, treatment plan, experience of the physician, availability of the equipment, and cost-effectiveness ratio.

Treatment and rehabilitation of patients with temporomandibular joints pathology

Relevance. According to statistical observations, the pathology of the temporomandibular joints (TMJ) is often found in dental practice, and is accompanied not only by a pronounced pain syndrome, but also by the occurrence of internal disorders in the structure of the joints themselves. The article discusses the causes of diseases of the temporomandibular joints, gives a physiological justification for the principles of treatment of this pathological condition, indicating further principles of rehabilitation. The aim of the study is to develop principles for the treatment and rehabilitation of patients with TMJ. Materials and Methods. The condition of patients was determined on the basis of a comprehensive examination, including functional diagnostic tests, collection of anamnestic data, study of models of biomechanical occlusions, axonography, psycho-emotional state of patients using the SCL-90-R scale, quality of life. Results and Discussion. The pathology of the temporomandibular joint is considered as a disorder of its functioning, both in the absence of morphological changes and in their presence. In the absence of changes, the psychosomatic factor plays a decisive role against the background of stressful conditions (20-27 %). In the presence of pathological changes in the elements of the joint, the violation of occlusion comes first, which leads to a decrease in the elasticity of the articular surfaces, due to a change in the state of the synovial fluid. Conclusion. To prescribe therapeutic measures for the pathology of the temporomandibular joint, a specific triad of clinical manifestations is necessary: severe pain syndrome, limitation of movements of the lower jaw, internal disorders of the joint (detected using MRI). Rehabilitation of patients with TMJ diseases, according to our research, should be carried out in a complex of gnathological, conservative and surgical treatment. As a surgical treatment, we recommend: prosthetic synovial fluid, arthrocentesis, arthrolavage and prosthetics of the head and articular cavity of the condylar process.

Reliability Analysis of a Functional Diagnostic Test for Primary Hyperaldosteronism Based on Data Analysis.

Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, with a prevalence of 12–20% in the hypertensive population. To determine the characteristic function of a fuzzy concept based on the epidemiological data, clinical manifestations, and auxiliary examinations of PA, the essence is to select a suitable domain and determine the affiliation of each element in the domain. The aldosterone/renin ratio was proposed to increase the detection rate of PA, which has the shortcoming of a high underdiagnosis rate when relying only on clinical manifestations. However, there is no unified standard for the diagnostic cut point, and there are differences in testing methods and diagnostic cut point values for different populations, which require different laboratories to establish appropriate cut points according to different regional populations to improve the diagnostic accuracy. In this article, we analyzed the reliability of functional diagnostic tests for PA based on data analysis and compared the sensitivity and specificity of different plasma aldosterone cut points for the diagnosis of PA in the 40 mg kibbutz test. The results showed that when post-saline PAC and post-cato PAC were used to confirm the diagnosis of proaldosterone, respectively, there was a similar subject working area under the curve between SSST and CCT, 0.89 and 0.78, respectively, with no significant difference in the area under the curve between the two (p=0.546). Therefore, blood sodium and blood potassium have higher specificity and sensitivity than SUSPUP, but both are lower than ARR, and data analysis can be used as an auxiliary indicator for screening.

Diverticula in the gastrointestinal tract

The prevalence of diverticula varies depending on the location within the gastrointestinal tract. Diverticula of the esophagus, stomach and small intestine are rare, more frequent are peripapillary diverticula and colonic diverticula. Meckel diverticula can also be of relevance in adults. Diverticula have to be differentiated from intramural pseudodiverticulosis of the esophagus and bile duct cysts. An endoscopic and radiological diagnostic work-up is only necessary for symptomatic diverticula or complications. In some cases additional functional diagnostic tests, such as high-resolution esophageal manometry to detect underlying motility disorders (Zenker's diverticulum, epiphrenic diverticulum) or the hydrogen breath test to detect bacterial overgrowth in the small intestine (diverticula of the small intestine) are mandatory. Effective treatment requires the close interdisciplinary cooperation between different specialist disciplines. Therapeutic modalities include pharmacotherapy, endoscopy and surgical methods.

What’s New in the 2019 Esc Guidelines on Chronic Coronary Syndromes?

Abstract The European Guidelines for Diagnosis and Treatment of Chronic Coronary Syndromes (CCS) were published in 2019 with a different title than the previous 2013 Guidelines that referred to “chronic stable coronary heart disease”, underlining the dynamic nature of the atherosclerotic process. The main changes in these guidelines refer to the most frequent clinical presentations of CCS, to the assessment of the pretest probability of atherosclerotic coronary heart disease with the recommendation to include cardiovascular risk factors and other factors, as well as the choice of invasive anatomical and/or functional diagnostic tests, invasive and/or non-invasive, depending on the probability of the existence of the disease. Regarding the treatment, these guidelines underline the importance of a healthy lifestyle and the modalities for the implementation and the strategy of anti-ischemic drug treatment, antithrombotic therapy being more widely addressed. Recommendations for myocardial revascularization on top of drug treatment for symptoms control and for improving prognosis are less restrictive in these guidelines. The recommendations of the CCS guidelines are harmonized with the recommendations of the other European guidelines, especially with those on diabetes, prediabetes and cardiovascular diseases which were also published in 2019.

What is the right moment for noninvasive ventilation in amyotrophic lateral sclerosis?

The most common cause of death in patients with amyotrophic lateral sclerosis (ALS) is respiratory failure, often in the period of 2-5 years, with a small percentage of patients surviving up to 10 years or more. The aim of the study was to evaluate the significance of pulmonary function tests in prediction of mortality and definition of indications for noninvasive mechanical ventilation (NIMV). This retrospective-prospective study was performed at the Clinic of Pulmonology, Clinical Centre of Serbia in the period from January 2015 to December 2017. Patients with diagnosis of ALS established according to El Escorial criteria were included. The study included 76 patients with ALS, 50 (65.85%) with spinal and 26 (34.2%) with bulbar form of disease. Forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) were higher in spinal form of ALS, and the difference was statistically significant when compared to bulbar form. Form of disease, FVC < 70%, maximum inspiratory pressure (PImax) < 50 and maximum expiratory pressure (PEmax) < 50 were significant factors for survival. The patients with bulbar form of disease had 2.174 (95.0% CI: 1.261-3.747) higher risk for death. Our study points to the significance of timely application and early start of NIMV in patients with ALS as an important approach to defer functional impairment, which would mean that the criteria, in our country, for application of these devices must be changed, not only regarding the value of current functional diagnostic tests used in everyday practice in patients with ALS but also in regard to the introduction of new diagnostic tests, such as sniff nasal inspiratory pressure and/or polysomnographic testing.

Stable atypical chest pain with negative anatomical or functional diagnostic test: Diagnosis no matter what or prevention at any cost?

BackgroundApproximately 1% to 2% of patients with stable atypical chest pain (SACP) experienced a major coronary event, even after a negative functional or anatomical test.MethodsOver the past 15 years, 1706 patients with SACP evaluated in our clinics underwent functional stress testing or coronary computed tomographic angiography (CTA). In these patients, we also assessed the presence of three major modifiable lifestyle‐related risk factors (cigarette smoking, low intake of fruit and vegetables, and physical inactivity). Patients were stratified according to the presence of at least one risky lifestyle factor or no risky lifestyle factors. Functional or anatomical tests were positive in 170 patients (10%). We followed the remaining 1536 patients with negative tests for 1 year to evaluate the incidence of major coronary events.ResultsThe percentage of patients reporting major coronary events was 1.2% in the group with risky lifestyles and 0.2% in the non‐risky lifestyle group (P < .01). Events were more common in smokers.ConclusionsPatients with SACP, when functional or anatomical tests are negative, have a residual risk of fatal and non‐fatal cardiovascular events of 1% at 1 year of follow‐up. People with incorrect lifestyles, especially smokers, have a higher risk of events. We think that in this population, a more effective intervention on lifestyles could be the key to reduce major cardiovascular events.

In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients

The intent of this study was to investigate if cerebrospinal fluid (CSF) from autoimmune encephalitis (AE) patients regulates in vitro neuronal network activity differentially to healthy human control CSF (hCSF). To this end, electrophysiological effects of CSF from AE patients or hCSF were measured by in vitro neuronal network activity (ivNNA) recorded with microelectrode arrays (MEA). CSF from patients with either N-methyl-D-aspartate-receptor-antibody (pCSFNMDAR, n = 7) or Leucine-rich-glioma-inactivated-1-Ab (pCSFLGI1, n = 6) associated AE suppressed global spiking activity of neuronal networks by a factor of 2.17 (p < 0.05) or 2.42 (p < 0.05) compared to hCSF. The former also suppressed synchronous network bursting by a factor of 1.93 (p < 0.05) in comparison to hCSF (n = 13). As a functional diagnostic test, this parameter reached a sensitivity of 86% for NMDAR-Ab- and 100% for LGI1-Ab-associated AE vs. hCSF at a specificity of 85%. To explore if modulation at the NMDAR influences effects of hCSF or pathological CSF, we applied the NMDAR-antagonist 2-Amino-5-phosphono-pentanoic acid (AP5). In CSF from NMDAR-Ab-associated AE patients, spike rate reduction by AP5 was more than 2-fold larger than in hCSF (p < 0.05), and network burst rate reduction more than 18-fold (p < 0.01). Recording ivNNA might help discriminating between functional effects of CSF from AE patients and hCSF, and thus could be used as a functional diagnostic test in AE. The pronounced suppression of ivNNA by CSF from NMDAR-Ab-associated AE patients and simultaneous antagonism at the NMDAR by AP5, particularly in burst activity, compared to hCSF plus AP5, confirms that the former contains additional ivNNA-suppressing factors.

Pathophysiology of Potassium-competitive Acid Blocker-refractory Gastroesophageal Reflux and the Potential of Potassium-competitive Acid Blocker Test.

Background/AimsPotassium-competitive acid blockers are expected to be the next generation of drugs for the treatment of diseases caused by gastric acid. In 2015, vonoprazan fumarate, a novel potassium-competitive acid blocker, was approved by the Japanese health insurance system. Since its approval, patients refractory to vonoprazan can be encountered in clinical settings. We designed this study to clarify the pathophysiology of gastroesophageal reflux disease refractory to vonoprazan.MethodsIn this retrospective study, we involved patients who had refractory symptoms after administration of standard-dose proton pump inhibitors or vonoprazan and underwent diagnostic testing with esophageal high-resolution manometry and 24-hour multichannel intraluminal impedance and pH monitoring while using proton pump inhibitors or vonoprazan. Patients were diagnosed based on the Rome IV criteria for functional gastrointestinal disorders and diagnostic test results.ResultsTwenty-seven patients were analyzed during this study. Gastric pH ≥4 was sustained for a longer period of time, and the esophageal acid exposure time and number of acid reflux events were shorter in the vonoprazan group than in the proton pump inhibitor group. The percentage of patients diagnosed with acidic gastroesophageal reflux disease in the vonoprazan group was lower than that in the proton pump inhibitor group.ConclusionsIntra-gastric pH and acid reflux were strongly suppressed by 20-mg vonoprazan. When patients with gastroesophageal reflux disease present symptoms after administration of 20-mg vonoprazan, the possibility of pathophysiologies other than acid reflux should be considered.

Prognosis of Functional Results of Arising or Immature Cataract Phacoemulsification High Myopia

Actuality. Complicated cataract surgery in high myopia is accompanied by the high risk of intra- and postoperative complications caused by this background disease. The presence of lens opalescence influences the results of many functional diagnostic tests. Diagnostic and prognostic research of the modern methods of investigation such as spectral optical coherence tomography, ultrasound biomicroscopy and B-scanning is urgent in patients with high myopia and cataract. The true prognosis of visual functions in these patients will allow solving the problem of cataract phacoemulsification expediency, decreasing the risks of complications.Purpose. To determine prognostic criteria of complicated cataract phacoemulsification outcome in high myopia.Patients and methods. 62 patients (101 eyes) with arising or immature cataract and high myopia were examined. All patients underwent ultrasound biomicroscopy of retinal periphery, ultrasound B-scanning of vitreous body and spectral optical coherence tomography of macular zone preoperatively, in the first postoperative days, in a month, in 6–8 months. We performed the correlation analysis of the initial morphological parameters and postoperative visual acuity. To solve the problem of the favorable outcome prognostication (achieving a certain level of visual acuity by the definite term after surgery) the method of binary logistic regression was used.Results and conclusion. The performed mathematical analysis showed the correlation between the postoperative visual acuity and the initial morphological parameters in a myopic eye: the value of ocular anterior posterior axis, the height of the posterior vitreous detachment, posterior staphyloma, the retinoschisis length in the superior outer segment, epiretinal membrane height, pigmented epithelium destruction and discharge, increased choroidal reflectivity, subfoveal choroidal thickness. We built the mathematical models that allowed predicting with high accuracy the probability of achieving a certain level of postoperative visual acuity following cataract phacoemulsification in high myopia.

Focus on the Hand - an Interface Between Surgery and Vascular Medicine

Damage to the hand caused by vibration has been observed with a range of trades and professions and in connection with various types of sport. Osseous, neurogenic and vascular lesions can lead to chronic ailments and permanent functional impairment. Hand-arm vibration syndrome (HAVS) and hypothenar/thenar hammer syndrome (HHS, THS) are interesting for vascular medicine. From a surgical perspective, there is a special significance in the fact that both syndromes are recognised occupational diseases (BK 2104 and BK 2114) which have to be acknowledged by an accident insurance doctor and in the medical report. Hypothenar/thenar hammer syndrome is caused by repeated force exerted in the region of the small finger or the ball of the thumb and is characterised by a trauma-induced lesion of the ulnar artery or radial artery that can lead to pain due to ischaemia in the acral area supplying blood to the arteries of the affected hand, usually the dominant hand. It is considered to be hand-arm vibration syndrome when there is a heightened sensitivity to coldness with vasospastic circulatory disturbance. The paper presents various clinical and functional diagnostic tests to enable a diagnosis. Doppler and duplex ultrasound exploration play an important role. Various radiological methods can augment diagnostic testing. The symptoms can be treated using medication or physiotherapy to improve perfusion by stimulating vasodilatation. An effective causal therapy is currently not available. Thus, when drawing up the medical report, particular attention should be paid to gathering information about the patient's medical history so that an unequivocal link can be made between the cause of the damage and the physical damage, as this could have sociomedical and pension-relevant consequences for the patient.

Triaging Primary Care Patients Referred for Chest Pain to Specialist Cardiology Centres: Efficacy of an Optimised Protocol

Patients referred for chest pain from primary care have increased, along with demand for outpatient cardiology consultations. We evaluated 'Triage Protocol' that implements standardised diagnostic testing prior to patients' first cardiology consultation. Under the 'Triage Protocol', patients referred for chest pain were pretriaged using a standardised algorithm and subsequently referred for relevant functional diagnostic cardiology tests before their initial cardiology consultation. At the initial cardiology consultation scheduled by the primary care provider, test results were reviewed. A total of 522 triage patients (mean age 55 ± 13, male 53%) were frequency-matched by age, gender and risk cohort to 289 control patients (mean age: 56 ± 11, male: 52%). Pretest risk of coronary artery disease was defined according to a Modified Duke Clinical Score (MDCS) as low (<10), intermediate (10-20) and high (>20). The primary outcome was time from referral to diagnosis (days). Secondary outcomes were total visits, discharge rate at first consultation, patient cost and adverse cardiac outcomes. The 'Triage Protocol' resulted in shorter times from referral to diagnosis (46 vs 131 days; P <0.0001) and fewer total visits (2.4 vs 3.0; P <0.0001). However, triage patients in low-risk groups experienced higher costs due to increased testing (S$421 vs S$357, P = 0.003). Adverse cardiac event rates under the 'Triage Protocol' indicated no compromise to patient safety (triage vs control: 0.57% vs 0.35%; P = 1.000). By implementing diagnostic cardiac testing prior to patients' first specialist consultation, the 'Triage Protocol' expedited diagnosis and reduced subsequent visits across all risk groups in ambulatory chest pain patients.

CT as gatekeeper of invasive coronary angiography in patients with suspected CAD.

Cardiac CT has been accepted as a valuable diagnostic tool in today's patient care. However, several other noninvasive, in particular, functional diagnostic tests are available on the menu for the ordering clinician and target more or less the same patient population. These tests come with a cost and financial constraints in the present economic environment will no longer allow its indiscriminate use. The gatekeeper function of a diagnostic testing strategy implies that a test is selected judiciously with the aim of preventing access to invasive yet expensive coronary angiography. On the basis of current knowledge, cardiac CT stands a good chance to claim the position of effective gatekeeper to the cathlab.

Discordance Between Functional Screening and Genetic Confirmatory Diagnostic Tests: A Retrospective Analysis of Activated Protein C Resistance and Factor 5 Leiden Testing Over a 5-Year Period

Discordance Between Functional Screening and Genetic Confirmatory Diagnostic Tests: A Retrospective Analysis of Activated Protein C Resistance and Factor 5 Leiden Testing Over a 5-Year Period

Study of mitochondrial DNA alteration in the exhaled breath condensate of patients affected by obstructive lung diseases

Mitochondrial DNA (MtDNA) has been studied as an expression of oxidative stress in asthma, COPD, lung cancer and obstructive sleep apnea, but it has been mainly investigated systemically, although the pathogenetic mechanisms begin in the airways and only later progress to systemic circulation. The aim of this study was to investigate the MtDNA alterations in the exhaled breath condensate (EBC) of patients with asthma, COPD and asthma-COPD overlap syndrome (ACOS). In order to analyze better what happens to mitochondria, both locally and systemically, we compared MtDNA/nDNA in blood and EBC of paired patients.Thirteen (13) COPD patients, 14 asthmatics, 23 ACOS (10 according to Spanish guidelines, 13 in line with GINA guidelines) and 12 healthy subjects were enrolled. Patients underwent clinical and functional diagnostic tests as foreseen by the guidelines. They underwent blood and EBC collection. Content of MtDNA and nuclear DNA (nDNA) was measured in the blood cells and EBC of patients by Real Time PCR. The ratio between MtDNA/nDNA was calculated.For the first time we were able to detect MtDNA/nDNA in the EBC. We found higher exhaled MtDNA/nDNA in COPD, asthmatic and ACOS patients respectively compared to healthy subjects (21.9 ± 4.9 versus 6.51 ± 0.21, p < 0.05; 7.9 ± 2.5 versus 6.51 ± 0.21, p = 0.06; 18.3 ± 3.4 versus 6.51 ± 0.21, p < 0.05). The level of exhaled MtDNA/nDNA was positively correlated with the plasmatic one.The levels of MtDNA/nDNA in the EBC, as expression of oxidative stress, are increased in COPD, asthmatic and ACOS patients compared to healthy subjects. These are preliminary results in a small number of well characterized patients that requires confirmation on a larger population. We support new studies directed toward the analysis of exhaled MtDNA/nDNA as a new exhaled non-invasive marker in other inflammatory/oxidative airways diseases.