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Diagnosing inflammatory bowel disease (IBD) can often be challenging, and differentiating between Crohn's disease and ulcerative colitis can be particularly difficult. Diagnostic procedures for IBD include laboratory tests, endoscopy, pathological tests, and imaging tests. Serological and stool tests can be easily performed in an outpatient setting and provide critical diagnostic clues. Although endoscopy is an invasive procedure, it offers essential diagnostic information and allows for tissue biopsy and therapeutic procedures. Video capsule endoscopy and device-assisted enteroscopy are endoscopic procedures used to evaluate the small bowel. In addition to endoscopy, magnetic resonance imaging, computed tomography, and ultrasound (US) are valuable tools for small bowel assessment. Among these, US is noninvasive and easily utilized, making its use highly practical in daily clinical practice. Endoscopic biopsy aids in the diagnosis of IBD and is crucial for assessing the histological activity of the disease, facilitating a thorough evaluation of disease remission, and aiding in the development of treatment strategies. Recent advances in artificial intelligence hold promise for enhancing various aspects of IBD management, including diagnosis, monitoring, and precision medicine. This review compiles current procedures and promising future tools for the diagnosis of IBD, providing comprehensive insights.

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Pathological diagnosis plays a pivotal role in risk classification and personalized treatment planning for patients with oropharyngeal cancers. However, challenges arise in cases involving trismus and tumors with submucosal spread, hindering traditional endoscopic biopsies and open incisional biopsies. In this study, we examined the clinical and pathological data of patients with trismus who underwent transoral ultrasound-guided core biopsy (USCB) for their oropharyngeal tumors, comparing this method with existing diagnostic approaches. Seventeen patients presenting with oropharyngeal tumors and trismus underwent transoral USCB for diagnosis. Of these, 14 patients were diagnosed with squamous cell carcinoma, while the remaining 3 were diagnosed with lymphoma. The procedure resulted in minimal wound size and effective bleeding control through compression, without encountering any complications. In conclusion, transoral USCB emerges as a precise diagnostic tool for patients with oropharyngeal tumors and trismus, offering a valuable adjunct to conventional open and endoscopic biopsies.

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BACKGROUND: In the Netherlands, the COVID-19 pandemic resulted in a temporary halt of population screening for cancer and limited hospital capacity for non-COVID care. We aimed to investigate the impact of the pandemic on the in-hospital diagnostic pathway of breast cancer (BC) and colorectal cancer (CRC). METHODS: 71,159 BC and 48,900 CRC patients were selected from the Netherlands Cancer Registry. Patients, diagnosed between January 2020 and July 2021, were divided into six periods and compared to the average of patients diagnosed in the same periods in 2017-2019. Diagnostic procedures performed were analysed using logistic regression. Lead time of the diagnostic pathway was analysed using Cox regression. Analyses were stratified for cancer type and corrected for age, sex (only CRC), stage and region. RESULTS: For BC, less mammograms were performed during the first recovery period in 2020. More PET-CTs were performed during the first peak, first recovery and third peak period. For CRC, less ultrasounds and more CT scans and MRIs were performed during the first peak. Lead time decreased the most during the first peak by 2 days (BC) and 8 days (CRC). Significantly fewer patients, mainly in lower stages, were diagnosed with BC (-47%) and CRC (-36%) during the first peak. CONCLUSION: Significant impact of the COVID-19 pandemic was found on the diagnostic pathway, mainly during the first peak. In 2021, care returned to the same standards as before the pandemic. Long-term effects on patient outcomes are not known yet and will be the subject of future research.

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OBJECTIVES: Timely diagnosis of lung cancer (LC) is crucial to achieve optimal patient care and outcome. Moreover, the number of procedures required to obtain a definitive diagnosis can have a large influence on the life expectancy of a patient. Here, adherence with existing Dutch guidelines for timeliness and type and number of invasive and imaging procedures was assessed. MATERIALS AND METHODS: 1096 patients with suspected LC were enrolled in this multicenter prospective study (NL9146). The overall survival, time from referral to the first appointment with the pulmonologist, time to diagnosis and treatment, and the number of imaging and invasive procedures were evaluated. Patients were divided into different diagnostic groupsearly- and advanced stage non-small-cell lung cancer (NSCLC), small-cell lung cancer (SCLC), large cell neuroendocrine carcinoma of the lung (LCNEC), patients without LC and patients without a definitive diagnosis. RESULTS: The majority of patients (66 %) received a definitive diagnosis within 5 weeks, although the time to diagnosis of early-stage LC patients and patients without LC was significantly longer comparted to advanced stage LC. An increase in invasive procedures was seen for early-stage LC compared to advanced stage LC and for 13 % of the advanced stage non-squamous NSCLC patients up to three additional invasive procedures were performed solely to obtain sufficient material for NGS. For patients without a definitive diagnosis, 50 % did undergo at least one invasive procedure, while 11 % did not wish to undergo any invasive procedures. CONCLUSION: These insights could aid in improved LC diagnostics and efficient implementation of new techniques like liquid biopsy and artificial intelligence. This may lead to more timely LC care, a decreased number of invasive procedures, less variability between the diagnostic trajectory of different patients and aid in obtaining a definitive diagnosis for all patients.

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Idiopathic normal pressure hydrocephalus (iNPH) is a neurological disorder characterized by the triad of gait disturbance, cognitive impairment, and urinary incontinence. The condition is diagnosed mainly in older adults and is associated with ventricular enlargement without an increase in cerebrospinal fluid pressure. The clinical assessment involves a detailed medical history, physical examination, and cognitive testing. Neuroimaging is an essential part of the diagnostic workup for iNPH. However, to determine the suitability of patients for shunt surgery, a range of invasive preoperative investigations are employed. This narrative review aims to provide a comprehensive analysis of the current literature on invasive preoperative investigations in iNPH, focusing primarily on the lumbar infusion test, cerebrospinal fluid drainage tests, and continuous intracranial pressure monitoring. The strengths and limitations of each method, as well as their potential impact on treatment outcomes, are discussed.

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The objective of this review is to investigate the distribution and the characteristics of coagulase-negative Staphylococci (CoNS) implicated in ovine mastitis, and especially in subclinical cases, in order to provide a global perspective of the current research data and analyze specific critical aspects of the issue. PRISMA guidelines were implemented in the search of the last 20 years of the related literature in two databases. In total, 139 studies were included in this review. Relevant data were tracked down, assembled, and compared. Regarding the geographical distribution, most studies originated from Europe (68), followed by South America (33). Lacaune was the most examined breed, while S. epidermidis was the predominantly identified species, representing approximately 39% of the obtained isolates. Antibiotic resistance in the relevant bacteria was documented mostly for Penicillin (32.8%) and Amoxicillin (32.1%), while biofilm- and toxin-associated genes were encountered in variable rates because significant inequalities were observed between different articles. Significantly higher rates of antimicrobial resistance were detected in Asia and South America compared to Europe. Finally, the diagnostic procedures carried out in the respective studies were evaluated. Conventional culture and biochemical tests were mostly performed for simple strain identification; therefore, further molecular investigation of isolates should be pursued in future studies, as this will provide important data regarding specific aspects of the implication of CoNS in ovine mastitis.

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Introduction: Mental disorders are often underdiagnosed in routine diagnostic procedures due to the use of unstandardized assessments; this can result in people either not receiving necessary treatment or receiving ineffective treatment for their condition. Klenico is an online diagnostic software system that facilitates diagnosis of mental disorders in adults through the use of standardized procedures. The procedure encompasses two modules, self-report and clinical validation. The current study aimed to confirm the validity of the Klenico assessment in a large clinical sample. Methods: Fully anonymized data from 495 adult inpatients were used. ICD-10 diagnoses were made during an initial interview by the clinical staff. Afterwards, patients filled out self-report questionnaires (BDI-II, BSI, EDE-Q, OCI-R, PHQ-D, and Y-BOCS) and completed the Klenico self-report module, which involves selecting and rating the severity of applicable symptoms. Finally, in the clinical validation module, mental health professionals validated the symptoms endorsed in the self-report module. Six Klenico domains were tested against patient self-reports and routine ICD-10 diagnoses by following the multitrait-multimethod approach. Internal consistency was assessed by calculating Cronbach's alpha. Results: The Klenico depressive disorders, OCD, and somatoform disorders domains revealed high correlations with the congruent questionnaires (i.e., those pertaining to these specific disorders) and revealed low correlations with the noncongruent questionnaires (i.e., those pertaining to other disorders), therefore evidencing construct validity. For the eating disorders and psychotic disorders domains, divergent validity was demonstrated. For the anxiety disorders domain, although analysis mostly indicated construct validity, this should be further confirmed. Discussion: Overall, the results largely confirmed the construct validity of the Klenico assessment, demonstrating its use as an easy-to-use, valid, standardized, and comprehensive instrument for diagnosing mental disorders.

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Ultrasonography guidance can help make procedures safer and more effective, particularly in the intensive care setting. This article discusses techniques to optimize periprocedural ultrasonography and reviews common intensive care procedures for which ultrasonography can be used: vascular access procedures, paracentesis, thoracentesis, and pericardiocentesis.

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BACKGROUND: Patients with rare diseases usually go through years of diagnostic odysseys. The large number of rare diseases and the associated lack of expertise pose a major challenge to physicians. There are few physicians dealing with patients with rare diseases and they usually work in a limited number of specialized centers. The aim of this study was to evaluate the diagnostic efficiency of an expert center. METHODS: The diagnostic pathway of 78 patients of the outpatient clinic for rare inflammatory systemic diseases with renal involvement was analyzed retrospectively. For this purpose, each examination day was documented with the corresponding examinations performed from the onset of initial symptoms. Three time points were considered: The time when patients first visited a physician with symptoms, the time when patients consulted an expert, and the time when they received the correct diagnosis. In addition, it was documented whether the diagnosis could be made without the expert, or only with the help of the expert. The examinations that confirmed the diagnosis were also documented for each patient. RESULTS: A correct diagnosis was made without the help of the expert in only 21% of cases. Each patient visited an average of 6 physicians before consulting the expert. Targeted diagnostics enabled the expert to make the correct diagnosis with an average of seven visits, or one inpatient stay. However, referral to the expert took an average of 4 years. CONCLUSION: The data show that rapid and targeted diagnostics were possible in the expert center due to the available expertise and the interdisciplinary exchange. Early diagnosis is of great importance for many patients, as an early and correct therapy can be decisive for the course of the disease.

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Intellectual disability (ID) and multiple congenital anomalies (MCA) are major contributors to infant mortality, childhood morbidity, and long-term disability, with multifactorial aetiology including genetics. We aim to set a diagnostic approach for genetic evaluation of patients with ID and MCA, which can be applied efficiently with a good diagnostic rate in Indonesia or other low resources settings. Out of 131 ID cases, twenty-three individuals with ID/global developmental delay (GDD) and MCA were selected from two-steps of dysmorphology screening and evaluation. Genetic analysis included chromosomal microarray (CMA) analysis, targeted panel gene sequencing, and exome sequencing (ES). CMA revealed conclusive results for seven individuals. Meanwhile, two out of four cases were diagnosed by targeted gene sequencing. Five out of seven individuals were diagnosed using ES testing. Based on the experience, a novel and comprehensive flowchart combining thorough physical and dysmorphology evaluation, followed by suitable genetic tests is proposed as a diagnostic approach to elucidate the genetic factor(s) of ID/GDD and MCA in low resources settings such as Indonesia.

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Cytogenetic aberrations are found in 65% of adults and 75% of children with acute leukemia. Specific aberrations are used as markers for the prognostic stratification of patients. The current standard cytogenetic procedure for acute leukemias is karyotyping in combination with FISH and RT-PCR. Optical genome mapping (OGM) is a new technology providing a precise identification of chromosomal abnormalities in a single approach. In our prospective study, the results obtained using OGM and standard techniques were compared in 29 cases of acute myeloid (AML) or lymphoblastic leukemia (ALL). OGM detected 73% (53/73) of abnormalities identified by standard methods. In AML cases, two single clones and three subclones were missed by OGM, but the assignment of patients to cytogenetic risk groups was concordant in all patients. OGM identified additional abnormalities in six cases, including one cryptic structural variant of clinical interest and two subclones. In B-ALL cases, OGM correctly detected all relevant aberrations and revealed additional potentially targetable alterations. In T-ALL cases, OGM characterized a complex karyotype in one case and identified additional abnormalities in two others. In conclusion, OGM is an attractive alternative to current multiple cytogenetic testing in acute leukemia that simplifies the procedure and reduces costs.

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BACKGROUND: Due to their fast turnaround time and user-friendliness, point-of-care tests (POCTs) possess a great potential in primary care. The purpose of the study was to assess general practitioners' (GPs) perspectives on POCT use in German primary care, including utilization, limitations and requirements. METHODS: We conducted a cross-sectional survey study among GPs in Germany (federal states of Thuringia, Bremen and Bavaria (Lower Franconia), study period: 04/22-06/2022). RESULTS: From 2,014 GPs reached, 292 participated in our study (response rate: 14.5%). The median number of POCTs used per GP was 7.0 (IQR: 5.0-8.0). Six POCTs are used by the majority of surveyed GPs (> 50%): urine dipstick tests (99%), glucose (urine [91%] and plasma [69%]), SARS-CoV-2 (80%), urine microalbumin (77%), troponin I/T (74%) and prothrombin time / international normalized ratio (65%). The number of utilized POCTs did not differ between GP practice type (p = 0.307) and population size of GP practice location (p = 0.099). The great majority of participating German GPs (93%) rated POCTs as useful diagnostic tools in the GP practice. GPs ranked immediate decisions on patient management and the increase in diagnostic certainty as the most important reasons for performing POCTs. The most frequently reported limitations of POCT use in the GP practice were economic aspects (high costs and inadequate reimbursement), concerns regarding diagnostic accuracy, and difficulties to integrate POCT-testing into practice routines (e.g. time and personnel expenses). CONCLUSION: Although participating German GPs generally perceive POCTs as useful diagnostic tools and numerous POCTs are available, several test-related and contextual factors contribute to the relatively low utilization of POCTs in primary care.

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BACKGROUND: For women of advanced maternal age or couples with high risk of genetic mutations, the ability to screen for embryos free of certain genetic mutations is reassuring, as it provides opportunity to address age-related decline in fertility through preimplantation genetic testing. This procedure has potential to facilitate better embryo selection, improve implantation rates with single embryo transfer and reduce miscarriage rates, among others, yet confers some risk to the embryo and additional costs of assisted reproductive technology. This raises questions whether, when and which patients should receive routine PGT-A prior to embryo transfer. DISCUSSION: Prenatal diagnostic procedures refer to tests done when one or both genetic parents has a known genetic disorder (or has worries about the disorder) and testing is performed on them, their gametes or on the embryos to determine if the latter is likely to carry a genetic disorder. PGT is used to identify genetic defects in gametes or embryos (often created through in vitro fertilization (IVF). The procedures generate immense potential to improve health and wellbeing by preventing conception or birth of babies with undesirable traits, life-limiting conditions and even lethal conditions. However, they generate a lot of information, which often may challenge decision-making ability of healthcare providers and parents, and raise ethical challenges. CONCLUSION: Prenatal diagnostic procedures have potential to address uncertainty and risk of having a child affected with a genetic disease. They, however, often raise own uncertainty and controversies, whose origin, manifestation and related ethical issues are presented. There is need to develop individual and couple decision support tools that incorporate patients' values and concerns in the decision-making process in order to promote more informed decisions, during counseling.

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Light-chain amyloidosis (AL) is a disease of protean manifestations due to a wide spectrum of organs that can be affected. The disorder is caused by the deposition of an extracellular amorphous material, the amyloid, which is produced by malignant plasma cells. The latter usually reside in the bone marrow; plasma cell infiltration is often low, in sharp contrast to what we observe in multiple myeloma. The disease may run below the physician's radar for a while before clinical suspicion is raised and targeted tests are performed. In this short review, we try to answer most of the questions that a practicing physician may ask in a relative clinical setting. The text is formed as a series of reader-friendly questions that cover the subject of AL amyloidosis from history to current therapy.

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Anxiety is one of the most common causes of withdrawal from follow-up among women with abnormal Papanicolaou screening results. The purpose of this study was to investigate predictors of anxiety in women with abnormal Papanicolaou smear in cervical cancer screening program. A population-based, cross-sectional study concerning the factors related to anxiety was carried out during 2017 in a cohort of women (N = 172) with positive Papanicolaou screening test before and after diagnostic procedures (colposcopy/biopsy/endocervical curettage) at one university Clinical Center in Serbia. Women completed a socio-demographic questionnaire and scale concerning anxiety (Hospital Anxiety and Depression Scale, subscale HADS-Anxiety) immediately before and 2-4 weeks after the diagnostic procedures. Multivariate logistic regression was applied in the data analysis. In our study, 35.2% (n = 52) of women had abnormal anxiety scores before the diagnostic procedures and 40.1% (n = 69) after the diagnostic procedures. Predictors of anxiety before diagnostic procedures were family history of noncervical gynecological cancers, higher level of worry and high burden of depressive symptoms. Significant independent predictors of anxiety after diagnostic procedures in women were rural residence, tension and discomfort during medical procedures, and less satisfaction with information/support. Although there was no significant difference in the prevalence of anxiety before and after diagnostic procedures in women with abnormal Papanicolaou screening results, results of this research will enable doctors to successfully make decisions concerning timely psychological support for women with positive screening test for cervical cancer that is necessary to decrease anxiety in our population.

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BACKGROUND: Secretoneurin is a neuropeptide expressed from endocrine, neuroendocrine, and neural tissues. Our study aimed to investigate whether there was a relationship between secretoneurin levels and the severity of traumatic brain injury (TBI). METHODS: Ninety patients aged over 18 years who were admitted to the emergency department with head trauma between April 2020 and October 2020 and 20 healthy volunteers (control group) were included in the study. Patients were divided into three groups according to Glasgow Coma Scale scores: Mild TBI (n=33), moderate TBI (n=28), and severe TBI (n=29). The final status of the patients was evaluated in three groups: exitus, discharge with Glasgow Outcome Scale (GOS) ≤ 3 and discharge with GOS >3. RESULTS: The median secretoneurin levels of patients with severe TBI 31.71 (14.21-70.95) were found to be significantly higher than in those with moderate TBI [17.30 (10.71-69.27) (P=0.025), and patients with moderate TBI had a substantially higher level of secretoneurin than those with mild TBI 11.70 (6-16.25) (P<0.001). There was no statistically significant difference between the median secretoneurin levels in patients with mild TBI and the control group 10.73 (5.33-13.18) (P=0.999). The secretoneurin cut-off value of >18.13 ng/mL had a sensitivity of 83.87% and a specificity of 77.97% for poor neurologic outcomes (AUC 0.86, 95% CI: 0.77- 0.92). The secretoneurin cut-off value of >20.67 ng/mL had a sensitivity of 90.91% and a specificity of 74.68% for mortality (AUC 0.85, 95% CI: 0.76-0.92). CONCLUSION: Secretoneurin can be a useful biomarker in diagnosing patients with moderate-tosevere TBI. It may also guide physicians in predicting the clinical outcome of patients with TBI.

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BACKGROUND: Cardiovascular diseases (CVDs) are among the most important causes of premature death, disability, disease burden, and increasing the cost of healthcare worldwide. Having an overview of service utilization can help policymakers to plan more effective use of those services and to cut costs. Thus, this study aims to determine the amount of use as well as the cost of various outpatient diagnostic procedures for CVDs in Isfahan province of Iran from 2011 to 2017. MATERIALS AND METHODS: This descriptive study used insurance claim data (time period: 2011-2017) from Health Insurance Organization in Isfahan province to determine the amount of use and the cost of various outpatient diagnostic procedures for CVDs. Afterward, based on these data, the use and the cost of various outpatient diagnostic procedures for CVDs were estimated for the total population of Isfahan province. The list of outpatient diagnostic procedures for CVDs was carefully chosen according to experts' opinions. RESULTS: The use and the cost of outpatient diagnostic procedures for CVDs have drastically increased in the study period (2011-2017). Since 2011, the number of procedures and their related costs have increased 6.6 and 30.76 times (11.74 times, adjusted with PPP conversion factor), respectively. Per capita use (per thousand people) was 18.75 in 2011, reaching 116.51 in 2017. Per capita cost (per thousand people) was 1,887,660 IRR (355 PPP$) in 2011, reaching 54,660,365 IRR (3920 PPP$) in 2017. The highest cost and use were related to echocardiography and electrocardiography, respectively. A notable increase has been observed in the share of radionuclide myocardial perfusion scan and analysis of pacemakers and ICDs of the total cost. CONCLUSIONS: The use of outpatient diagnostic procedures for CVDs has drastically increased during the studied period. Consequently, the cost borne by the health system and the patients have notably increased. This may be because of the increase in the incidence and prevalence of CVDs during the study period. Greater access to related health services can be mentioned as another reason for this increase. Further research is needed to explain all potential reasons and their importance, which can provoke a suitable health policy reaction.

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Although diagnostic procedures are crucial for secondary prevention and patient disease control, they often trigger fear and anxiety. These reactions highlight the need to adopt effective interventions to improve patients' experience and satisfaction. Recently, educational videos have been employed in preparing diagnostic procedures; however, there is no integrated understanding of their effects. This systematic review and meta-analysis aimed to assess the effectiveness of educational videos on patients' anxiety and satisfaction regarding preparation for diagnostic procedures. Three scientific databases (PubMed; Web of Science, Scopus), were used in this systematic review. Studies about educational videos as a form of preparation for patients undergoing diagnostic procedures published between 2000 and 2021 were included. A meta-analysis was also conducted. Sixteen studies met the inclusion criteria for systematic review, and seven were included in the meta-analysis. Nine studies of the total sample were about vascular procedures and seven studies about other medical image procedures. Of the fourteen studies that evaluated the use of educational videos on patients' anxiety, nine proved to reduce it significantly. Of the thirteen studies that evaluated satisfaction, seven showed a significant increase in the experimental group. Studies included in the meta-analysis show that educational video patient groups had lower anxiety levels than the control groups after the procedure. Although future studies are required, the results suggest that educational videos effectively prepare patients for diagnostic procedures, improving care quality.

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Background and Aims: This is the first national population-based report about prenatal diagnosis for families with a history of facioscapulohumeral muscular dystrophy (FSHD), a complex hereditary disease. The incomplete disease penetrance and the phenotypic heterogeneity observed in carriers of D4Z4 alleles of reduced size, the FSHD molecular hallmark, make the estimate of genetic risk problematic. Methods: We considered all requests of preconception counseling and prenatal diagnosis received between January 2008 and December 2020 by the genetic counseling service associated with the Italian National Registry for FSHD (INRF). A multidisciplinary team managed the clinical and molecular data of each family. Results: Between 2008 and 2020, 60 couples required preconception counseling (PC) for FSHD. In 52 couples was observed at least one partner carried a D4Z4 reduced allele (DRA). Out of these 52 couples, 47 had a follow-up visit routine yearly. Out of these 47, 26 (55.3%) couples had children: eight asked for prenatal diagnosis (PND), two had assisted reproduction by heterologous in vitro fertilization (IVF), and 16 did not require further assistance. Regarding PND, 50 prenatal analyses were performed for 36 couples. The test resulted positive in 27 pregnancies, 12 (44.4%) were terminated, and 15 (55.6%) were carried to term. Conclusion: The different choices made by the couples show the importance of an integrated approach to support genetic counseling for FSHD. These results remark the relevance of the clinical and molecular investigation of the extended family, preferably before conception.

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Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in humans (or 14 diseases if considering one MPS type described to date only in mice) in which an enzymatic defect results in the accumulation of glycosaminoglycans (GAG) in the lysosomes of cells. First of all, as a result of GAG storage, the proper functioning of the lysosome is disturbed; then, the cells, and finally, tissue, organs, and the whole organism malfunctions are observed. Due to the rarity, heterogeneity, and multi-systemic and progressive nature of MPS, they present a major diagnostic challenge. Due to the wide variation in symptoms and their similarity to other diseases, MPS is often misdiagnosed, usually as neurological diseases (like autism spectrum disorders, psychomotor hyperactivity, and intellectual disability) or rheumatology and orthopedic disorders (like juvenile idiopathic arthritis, Perthes disease, rickets, and muscular dystrophy). In this review article, we present the problems associated with the possibility of misdiagnosing MPS, discuss what diseases they can be confused with, and suggest ways to reduce these problems in the future.

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