Specific Diagnostic Procedures Research Articles

Diagnosis and therapy of patients with asthma in Germany. Results of the care study RELEVANT

Diagnostic and therapeutic options for asthma have improved with asthma control and remission being of central importance. The RELEVANT study aimed for a nationwide snapshot of current asthma diagnosis and treatment in general practice and specialty care for identification of further aspects for optimization. RELEVANT is a nationwide cross-sectional study using a structured questionnaire. This comprised 14 questions on asthma-related topics covering diagnostics and therapy. Participants were general practitioners/internal medicine specialists and pulmonologists. A total of 1,558 persons took part in the survey. Regarding relevant specific diagnostic procedures for asthma, GPs/internists almost exclusively mentioned pulse oximetry. Among the pulmonologists, fractional exhaled nitric oxide (FeNO) measurement was mentioned, among others. FeNO and blood eosinophils were only mentioned by the pulmonologists as diagnostic and treatment-relevant markers. A total of more than 60% of the GPs/internists surveyed stated that only around 25% or fewer of their patients would voluntarily report restrictions in their everyday lives. Regarding drug treatment, the majority stated that they recognized differences between various ICS/LABA combination therapies. The results indicate a need for optimization, particularly regarding asthma control. This involves both a better assessment by patients' everyday life restrictions and modern ways of assessing asthma control in cooperation between GPs/internal medicine specialists and pulmonologists. One fifth of respondents do not see any differences between various ICS/LABA combinations in daily practice, although there are pharmacodynamic and pharmacokinetic differences.

The pattern of back pain: from spondyloarthritis to lymphoma

inflammatory back pain, which rheumatologists often deal with in their practice, has certain characteristics. However, other non-rheumatological diseases can mimic inflammatory back pain. Non-compliance with the diagnostic criteria and the presence of additional symptoms, especially from the group of "red flags", such as weight loss, fever, night sweats, etc., require careful diagnosis. The purpose of the work is to analyze a clinical case of diffuse large B-cell lymphoma in a young patient with non-specific symptoms, differential diagnosis with seronegative spondyloarthritis associated with inflammatory bowel disease. The article uses the data of objective, instrumental and laboratory examination of the patient. The work presents a clinical case of back pain in a 27-year-old patient, in which a multidisciplinary approach and specific diagnostic procedures (lymph node biopsy, histological and immunohistochemical examination) made it possible to establish the final diagnosis - diffuse large B-cell lymphoma. Based on a clinical case, a review of the literature was performed with an emphasis on the differential diagnosis between rheumatic inflammatory back pain and other causes, including paraneoplastic pain and metastatic processes. The most common causes of chronic back pain in young men are spondyloarthritis, however, in the presence of weight loss, fever, night sweats and lymphadenopathy, back pain requires careful clinical, laboratory and instrumental examination of patients. Diffuse large B-cell lymphoma can be the cause of back pain, which requires the involvement of specialists of various profiles in order to verify the final diagnosis.

Post-Discectomy Infection: A Critical Review and Suggestion of a Management Algorithm.

Postoperative discitis (POD) accounts for 20% to 30% of all cases of pyogenic spondylodiscitis, while POD may be mis-or-under-diagnosed, due to the vague related symptomatology and the non-specific imaging findings. Most studies report infection rate of less than 1%, which increases with the addition of non-instrumented fusion to 2.4% to 6.2%. It remains controversial whether POD is caused by an aseptic or infectious process. Positive cultures are presented only in 42-73% of patients with Staphylococcus species being the most common invading organisms, while Staphylococcus aureus is isolated in almost 50% of cases. The onset of POD symptoms usually occurs at 2-4 weeks after an apparently uneventful operation. Back pain and muscle spasms are usually refractory to bed rest and analgesics. Magnetic Resonance Imaging (MRI) is the most sensitive and specific imaging diagnostic technique. Antimicrobial therapy depends on the results of tissue cultures, and along with bracing represents the mainstay of management. Surgical intervention is necessary in patients failing conservative treatment. For the majority of cases, extensive surgical debridement, antibiotic therapy, and orthosis immobilization are effective in eliminating the infection. According to this, we recommend an Algorithmic approach for the management of POD. Postoperative infections after spinal surgery pose a certain clinical challenge, and in most cases can be treated conservatively. Nevertheless, disability may be persistent, and surgery could be necessary. The purpose of this concise review is to describe the manifestation of post-discectomy infection, its pathogenesis and particularly a rational approach for its management.

Retroperitoneal Mullerian Cyst of Renal Origin in a Cat - A Case report

Extreme rarely reported mullerian cysts of the retroperitoneum are considered to be a subtype of urogenital cysts. Retroperitoneal cysts can be categorized into lymphatic cysts, mesothelial cysts, enteric cysts and urogenital cysts based on embryological origin and histogenesis. The present case is an rare encounter and the successful management of the same is herewith discussed. A twelve months old intact female domestic short hair cat was presented with a history of progressive abdominal distension, anorexia, lethargy and oliguria. On abdominal palpation, an extensive globular mass was palpable in the cranial abdomen a survey radiography of the abdomen and thorax revealed a soft tissue contour at the cranial abdomen at the left renal position, thoracic radiography revealed absence of any abnormalities. Renal functional status was ascertained with intravenous pyelography which revealed unilateral cystic dysgenesis of left kidney and agenesis of left ureter. Hematobiochemical profiles and preoperative assessment were done to rule out general organ health. Following routine and special diagnostic procedures, an exploratory laparotomy confirmed the cystic renal distension that was excised through an unilateral nephrectomy and the cat was observed on periodic reviews to confirm any abnormalities if any which was absent and the animal had an uneventful recovery,.

Оценка радиационных рисков на индивидуальном уровне при многократном прохождении компьютерной томографии на современных компьютерных томографах

Technological developments, as well as software upgrades to existing computerized tomography (CT) scanners, require a continuous review of the methods for estimating radiation risk from CT procedures. According to the International Commission on Radiological Protection (ICRP), such assessments should be based on absorbed doses in organs and tissues exposed to radiation. This work is devoted to the study of the influence of various characteristics of the CT (manufacturer, type of scanner, etc.) on the evaluation of radiation risks on the example of multiple exposures in standard CT procedures. As an example, the value of lifetime attribute risk (LAR) and lifetime attributable risk fraction (LARF) for 5 CT scans during the life of a woman aged 20, 25, 30, 45 and 50 years is estimated. The lifetime attributable risk of possible cancer induction was estimated according to the ICRP mathematical model (Publication 103) and using the medical and demographic characteristics of the Russian population, as well as scan protocol data for typical CT scanners of selected models. The results were obtained with the use of old and updated conversion factors for the DLP (Dose Length Product – a measure of the absorbed radiation dose for the whole CT examination) parameter to organ doses from a particular procedure. The lifetime attributable risk of possible cancer induction calculated using organ doses derived from old conversion factors was compared with the risk calculated with data for modern CT scanners with updated conversion factors. The LAR was evaluated over time for one CT examination, two, three, four and five different procedures during the patient's lifetime. It was found that to date such factor as software updates in the field of optimisation of scanning protocols or the CT scanner manufacturer still do not has a significant impact on the radiation risks associated with specific diagnostic procedures. The methods developed by the authors for calculating absorbed doses and radiation risks can be used in planning CT examinations and optimising patient dose loads on any modern CT scanners.

Detecção de anticorpos anti Leishmania spp. utilizando ensaio de imunoabsorção enzimática em gatos na fronteira Oeste do Brasil

ABSTRACT: Feline leishmaniosis is infrequent worldwide, and cats have been suggested as secondary reservoirs for the parasite. However, specific diagnostic techniques for feline samples are scarce. In this study, we standardized an in-house indirect enzyme-linked immunosorbent assay (ELISA) using crude Leishmaniainfantum antigen to detect antibodies in feline samples from an endemic canine visceral leishmaniosis (CVL) area in the western border of Brazil. The results were compared with those of an indirect immunofluorescence assay (IFA). We tested semi-domiciled felines residing in Uruguaiana and Barra do Quaraí, Rio Grande do Sul. Among the 41 samples, 25 (61%) were positive using ELISA and 24 (58%) were positive using IFA (1:40). Our findings demonstrated a high seropositivity of feline samples from the endemic CVL area in the western border of Brazil, and we proposed the use of an in-house ELISA with crude antigen for population screening. This is the first serological survey on felines in a region where CVL is well established.

Role of Diagnostic procedures in managing human Bacterial infections: A comprehensive overview

The study of human illnesses brought on by microbes falls under the wide category of infectious diseases. Among all other challenges, infectious diseases have a profound influence on human existence. From local epidemics to global pandemics, infectious diseases have had a huge impact on civilization growth, country destiny, and human history. Only in the late 1800s did scientists discover that infections are caused by microorganisms, leading to the development of the microbe-specific medical diagnostic technique. If identified and treated properly, many infections have mild consequences. Others, however, including pneumonia and meningitis, etc. can be fatal if neglected. With its capacity to pinpoint the precise source of infection and combat varied and widespread outbreaks, diagnostic procedures play a special role in the management of infectious diseases. Diagnosis-aid therapies work better and help the infected patient avoid long-term consequences. The most appropriate course of medication can also be decided through diagnostic testing. Patients who go undiagnosed may unintentionally spread the illness to others. A prompt diagnosis can thus contribute to the control or prevention of outbreaks. In summary, the novelty and contributions of the study lie in its recognition of the pivotal role played by diagnostic procedures in understanding, managing, and controlling infectious diseases. It also acknowledges the historical discovery of microorganisms as the root cause of infections and the development of specific diagnostic techniques, both of which have had a profound impact on the field of medicine and public health.

Common Data Elements for Disorders of Consciousness: Recommendations from the Working Group on Hospital Course, Confounders, and Medications.

The convergence of an interdisciplinary team of neurocritical care specialists to organize the Curing Coma Campaign is the first effort of its kind to coordinate national and international research efforts aimed at a deeper understanding of disorders of consciousness (DoC). This process of understanding includes translational research from bench to bedside, descriptions of systems of care delivery, diagnosis, treatment, rehabilitation, and ethical frameworks. The description and measurement of varying confounding factors related to hospital care was thought to be critical in furthering meaningful research in patients with DoC. Interdisciplinary hospital care is inherently varied across geographical areas as well as community and academic medical centers. Access to monitoring technologies, specialist consultation (medical, nursing, pharmacy, respiratory, and rehabilitation), staffing resources, specialty intensive and acute care units, specialty medications and specific surgical, diagnostic and interventional procedures, and imaging is variable, and the impact on patient outcome in terms of DoC is largely unknown. The heterogeneity of causes in DoC is the source of some expected variability in care and treatment of patients, which necessitated the development of a common nomenclature and set of data elements for meaningful measurement across studies. Guideline adherence in hemorrhagic stroke and severe traumatic brain injury may also be variable due to moderate or low levels of evidence for many recommendations. This article outlines the process of the development of common data elements for hospital course, confounders, and medications to streamline definitions and variables to collect for clinical studies of DoC.

CRISPR-Cas13a-Based Assay for Accurate Detection of OXA-48 and GES Carbapenemases.

Carbapenem-resistant pathogens have been recognized as a health concern as they are both difficult to treat and detect in clinical microbiology laboratories. Researchers are making great efforts to develop highly specific, sensitive, accurate, and rapid diagnostic techniques, required to prevent the spread of these microorganisms and improve the prognosis of patients. In this context, CRISPR-Cas systems are proposed as promising tools for the development of diagnostic methods due to their high specificity; the Cas13a endonuclease can discriminate single nucleotide changes and displays collateral cleavage activity against single-stranded RNA molecules when activated. This technology is usually combined with isothermal pre-amplification reactions in order to increase its sensitivity. We have developed a new LAMP-CRISPR-Cas13a-based assay for the detection of OXA-48 and GES carbapenemases in clinical samples without the need for nucleic acid purification and concentration. To evaluate the assay, we used 68 OXA-48-like-producing Klebsiella pneumoniae clinical isolates as well as 64 Enterobacter cloacae complex GES-6, 14 Pseudomonas aeruginosa GES-5, 9 Serratia marcescens GES-6, 5 P. aeruginosa GES-6, and 3 P. aeruginosa (GES-15, GES-27, and GES-40) and 1 K. pneumoniae GES-2 isolates. The assay, which takes less than 2 h and costs approximately 10 € per reaction, exhibited 100% specificity and sensitivity (99% confidence interval [CI]) for both OXA-48 and all GES carbapenemases. IMPORTANCE Carbapenems are one of the last-resort antibiotics for defense against multidrug-resistant pathogens. Multiple nucleic acid amplification methods, including multiplex PCR, multiplex loop-mediated isothermal amplification (LAMP) and multiplex RPAs, can achieve rapid, accurate, and simultaneous detection of several resistance genes to carbapenems in a single reaction. However, these assays need thermal cycling steps and specialized instruments, giving them limited application in the field. In this work, we adapted with high specificity and sensitivity values, a new LAMP CRISPR-Cas13a-based assay for the detection of OXA-48 and GES carbapenemases in clinical samples without the need for RNA extraction.

Development of an inducible Cas9 nickase and PAM-free Cas12a platform for bacterial diagnostics

Rapid, efficient, specific and sensitive diagnostic techniques are critical for selecting appropriate treatments for drug-resistant bacterial infections. To address this challenge, we have developed a novel diagnostic method, called the Dual-Cas Tandem Diagnostic Platform (DTDP), which combines the use of Cas9 nickase (Cas9n) and Cas12a. DTDP works by utilizing the Cas9n-sgRNA complex to create a nick in the target strand's double-stranded DNA (dsDNA). This prompts DNA polymerase to displace the single-stranded DNA (ssDNA) and leads to cycles of DNA replication through nicking, displacement, and extension. The ssDNA is then detected by the Cas12a-crRNA complex (which is PAM-free), activating trans-cleavage and generating a fluorescent signal from the fluorescent reporter. DTDP exhibits a high sensitivity (1 CFU/mL or 100 ag/μL), high specificity (specifically to MRSA in nine pathogenic species), and excellent accuracy (100%). The dual RNA recognition process in our method improves diagnostic specificity by decreasing the limitations of Cas12a in detecting dsDNA protospacer adjacent motifs (PAMs) and leverages multiple advantages of multi-Cas enzymes in diagnostics. This novel approach to pathogenic microorganism detection has also great potential for clinical diagnosis.

A Review on Privacy Preserving Using Machine learning and Deep Learning Techniques

Abstract: In order to entice data custodians to provide precise documentation so that data mining can continue with confidence, protecting the confidentiality of healthcare data is crucial. Association rule mining has been extensively used in the past to analyze healthcare data. The majority of applications ignore the drawbacks of specific diagnostic procedures in favor of positive association criteria. Negative association criteria may provide more useful information when bridging disparate diseases and medications than positive ones. In the case of doctors and social groups, this is particularly accurate. Data mining for medical purposes must be done with patient identities protected, especially when working with sensitive data. However, it might be attacked if this information becomes public. In order to perform data mining research, technology that modifies data (data sanitization) that reconstructs aggregate distributions has recently addressed the importance of healthcare data privacy. This study examines data sanitization in healthcare data mining using metaheuristics in order to safeguard patient privacy. Studies on SHM have looked at the uses of IoT &/or Machine Learning (ML) within the field, as well as the architecture, security, & privacy issues. However, no studies have looked into how AI and ubiquity computing technologies have affected SHM systems. The objective of this research is to identify and map the primary technical concepts within the SHM framework.

Prevalence of Intestinal Coccidia: First Description of Cyclosporidiosis Associated with Diarrhea in Children in Colombia

Background: In Colombia, the studies about the etiology of acute diarrhea disease (ADD) in children by using standard stool culture techniques methods and DNA detection tools for intestinal virus show that viral origin was the most frequent, however still between 16 to 45% of the cases of unknown etiology. Specific staining techniques or high sensitivity molecular methods for the intestinal coccidia Cryptosporidium sp and Cyclospora sp have been not applied in the Colombian studies, for this reason, the current situation of these intestinal coccidia in Colombia as cause of diarrhea is unknown. Objective: To estimate the frequency of Cryptosporidium sp. and Cyclospora sp. and to analyze the association between infection and clinical manifestations on children with acute diarrhea consulting the pediatrics emergency service of a third level Hospital. Methods: An observational descriptive study was performed in 150 children that consulted the emergency service at the Hospital San Juan de Dios in Armenia, Colombia, in the period between April 1st and May 31st of 2022. We applied questionnaires and collected primary data from clinical records of children, as well as stool samples of each child after receiving informed consent from the parents and/or legal guardian of the minors. To identify the pathogenic intestinal coccidia (Cryptosporidium sp. and Cyclospora sp.), we used stool fresh preparations with 1% iodine and stained by a modified Ziehl Nielsen coloration protocol (Kinyoun stain). Samples were examined by expert microbiologists on a light microscope with a 40x objective. Prevalence and odds ratios were estimated. For statistical analysis differences in proportions among groups were compared via the X2 test and Fisher exact test. For non-parametric data, differences of means between two groups were analyzed through a Kruskall-Wallis test. Differences of medians were analyzed via Kruskal-Wallis test for non-parametric variables and analysis of variance (ANOVA) for parametric variables; statistical significance was considered when p ≤ 0.05. Statistical calculations were made by using software factors in Epi Info 7.2 Epi-Info version 3.5.1 (CDC, Atlanta). Results: The prevalence of infection in the children that went to the urgency service was of 19,7% by Cryptosporidium sp. and 10,9% by Cyclospora sp. The 59,2% of children with cryptosporidiosis and 66,6% of children with cyclosporidiosis were hospitalized. There was a statistically significant association between the presence of parasite in stools and fever in cyclosporidiosis (93,3% of children with cyclosporidiosis vs. 56% by other causes, OR 10,7 IC95% 1,3-84; p= 0,004). Conclusions: The study results indicate the need to use specific diagnostic techniques to identify Cryptosporidium sp and Cyclospora sp in children with diarrhea, because they are frequent and are treatable with specific antiparasitic medication. We recommend that its search should be done systematically.

Prevalence, Peculiarities and Patterns of Urogenital Schistosomiasis and Hematuria in Owena Reservoir Area, Ondo East Local Government Area, Ondo State, Nigeria

Background: Schistosomiasis, Leprosy, Leishmaniasis, Malaria, Trypanosomiasis and Filariasis are the six major tropical diseases, specially targeted for control by the Special Program for Research and Training on Tropical Diseases of the United Nations Development Programme (UNDP), World Bank and World Health Organization. Out of the above six diseases, schistosomiasis is the second most important tropical diseases, second only to malaria. The distribution of schistosomiasis cuts across 76 countries in Africa, Latin America and Asia. Schistosoma hematobium endemicity cuts across 54 countries. Aim: To study the prevalence, peculiarities and patterns of urogenital schistosomiasis and hematuria in Owena Reservoir Area for an effective, affordable and sustainable schistosomiasis control in the area. Materials and methods: Owena Reservoir Area consists of Owena, Kajola and Baiken communities. A school-based cross-sectional technique was used for urine collection and quantification of Schistosoma hematobium eggs which involved 624 pupils in March 2014 and 591 pupils in April 2015. Risk factors, socio-demographic variables were collected using questionnaires. Urine samples were examined for Schistosoma hematobium eggs using sedimentation by gravity cum centrifugation. The urine samples obtained from the pupils were divided into two separate 30ml universal sterling plastic bottles with conical bottom. The first of the two 30ml universal sterling plastic bottles were examined for Schistosoma hematobium eggs using sedimentation by gravity cum centrifugation. The second of the two 30ml universal sterling plastic bottles were assessed for gross hematuria through visual observation of bloody urine while non-bloody samples were examined for micro-hematuria using one strip of commercially prepared chemical reagent strips COMBUR-9 prepared and marketed by Acun Laboratory USA which was dipped into each urine sample and the color change was matched with standard by the side of the container of the reagent strips. Results: Out of the 624 pupils examined in March 2014, 256 (41.0%) were positive for Schistosoma hematobium eggs in urine, while in April 2015, 381 (64.5%) out of 591 were positive. Prevalence of hematuria in the three communities shows that in Owena community the age group 21 – 30 had the highest prevalence (49.2%); in Kajola, the age group 5-10 had the highest prevalence (46.2%); while in Baiken community, the age group 5-10 had the highest prevalence (55.5%) – with 95% Confidence Interval in all cases. Conclusion: Macrohematuria was identified as a sensitive and specific diagnostic technique for identifying people infected with Schistosoma hematobium in the three communities. This parameter may be recommended as a cost saving diagnostic approach during future control efforts, with reference to the April 2015 peculiarities and patterns of infection shown by this study.

A Novel Blocking Enzyme-Linked Immunosorbent Assay Based on a Biotinylated Nanobody for the Rapid and Sensitive Clinical Detection of Classical Swine Fever Virus Antibodies.

Monoclonal and polyclonal antibodies are mostly used for the development of traditional enzyme-linked immunosorbent assays (ELISAs), but the use of certain conventional antibodies may be limited by their low yield, the difficulty of their isolation, and their high cost. Heavy-chain antibodies derived from camelids with naturally missing light chains can overcome these deficiencies and are an excellent alternative to conventional antibodies. In this study, a nanobody (Nb)-AviTag fusion protein was constructed, and the feasibility of its use as a high-sensitivity probe in a blocking ELISA (bELISA) for classical swine fever virus (CSFV) was investigated. The CSFV E2 recombinant protein expressed by the CHO expression system exhibited good reactogenicity and immunogenicity and induced the production of high CSFV antibody levels in rabbits. Three different clones of Nbs were successfully isolated using a phage display system in alpaca, and an Nb1-AviTag fusion protein was successfully expressed using an Escherichia coli expression system. The purified Nb1-AviTag fusion protein was then biotinylated in vitro to obtain Nb1-biotin. A novel bELISA was developed for the detection of CSFV antibodies in clinical serum using Nb1-biotin as a probe. The cutoff value of bELISA was 32.18%, the sensitivity of bELISA was higher than that of the bELISA kit with IDEXX antibody, and the coincidence rate was 94.7%. A rapid, low-cost, highly sensitive and highly specific CSFV E2 antibody-based bELISA method was successfully established and can be used for the serological evaluation of CSFV E2 subunit vaccines and the ELISA-based diagnosis of CSFV infection. IMPORTANCE Currently, the epidemic situation of classical swine fever (CSF) is sporadic, and cases of atypical swine fever are on the rise in China. Therefore, it is necessary to accurately eliminate suspected cases by using highly sensitive and specific diagnostic techniques. In our study, a rapid, low-cost, highly sensitivity, highly reliable and reproducible, and highly specific classical swine fever virus (CSFV) E2 antibody-based blocking ELISA method was successfully established by using the phage display system and the Nb1-AviTag fusion expression platform. It provides a new technique for serological evaluation of CSFV vaccines and ELISA-based diagnosis of CSFV infection.

Designing and implementation of a T-ARMS-PCR assay to genotype genetic variants associated with retinoblastoma in a cohort of Sri Lankan population

Retinoblastoma (RB) is the most common intraocular malignancy, characterized by high mortality if not detected early and treated promptly. The rare childhood malignancy retinoblastoma serves one of the most important models in modern cancer genetics. Since the study of its familial and sporadic occurrence has led to the identification of the first tumor suppressor gene RB1. Mutations screening is important for risk assessment in future siblings and offspring of RB patients.The aim of this study was to design and implement a novel genetic assay to identify genetic variants associated with retinoblastoma in a cohort of Sri Lankan patients.Materials and methods: A prospective descriptive study was carried out with 59 patients referred to the Eye Unit of the Lady Ridgeway Hospital. Genomic DNA of 59 patients were genotyped using primers designed for Tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR).Results: The median age at diagnosis was 2 years and 7 months. Female to male ratio was 3:2. Out of which, 63% had unilateral retinoblastoma and 36% had bilateral retinoblastoma. Family history of RB was seen in 6.78% patients. Most cases were advanced group D at presentation. As the final result, all patients tested homozygous for the ancestral allele for both rs587776789 and rs121913305 variants of the RB1 gene.Discussion and conclusion: The discovery of germ-line mutations in unilateral patients is valuable since they can be segregated based on their mutational status and this would impact the genetic counselling given to them as they age. In conclusion, this assay can be introduced as a sensitive, specific and simple diagnostic technique for screening related genetic variants for retinoblastoma in the Sri Lankan population.

Animal Viral Diseases Diagnosis In Qatar: Current Situation and Future Prospects

Identification and control of viruses that causes diseases in human, domestic and wild animals represent continuous challenges to medical and veterinary sciences. Many diagnostic techniques have for a long time been used to identify individual infectious viral agents by their clinical signs , symptoms and histopathological changes produced in the susceptible host. But it is not always possible to identify or differentiate the disease on the basis of its signs symptoms and pathology, it thus requires use of other specific diagnostic procedures to clearly identify and confirm the pathogens These procedures involve both conventional as well as state of the art techniques. Several conventional techniques such as isolation in cell culture, serology for both antibody and antigen detection are traditionally used to identify viral pathogens. However, the rapid molecular detection techniques of infectious agents in animals as well as in environment have nowadays become an essential part of any modern diagnostic laboratory. Molecular diagnostic technologies are more advantageous as they offer more sensitive, less time consuming, with high throughput results and provide accurate diagnosis and provide thorough understanding of and discrimination of present and emerging diseases. In addition, these new tools can detect the presence of pathogen before the onset of clinical disease. Here we discuss some aspects of the current and contemplated diagnostic tools and their potential applications for diagnosis of viral diseases of domestic and wild animals in Qatar.

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.

Several types of haemoglobinopathies are caused by copy number variants (CNVs). While diagnosis is often based on haematological and biochemical parameters, a definitive diagnosis requires molecular DNA analysis. In some cases, the molecular characterisation of large deletions/duplications is challenging and inconclusive and often requires the use of specific diagnostic procedures, such as multiplex ligation-dependent probe amplification (MLPA). Herein, we collected and comprehensively analysed all known CNVs associated with haemoglobinopathies. The dataset of 291 CNVs was retrieved from the IthaGenes database and was further manually annotated to specify genomic locations, breakpoints and MLPA probes relevant for each CNV. We developed IthaCNVs, a publicly available and easy-to-use online tool that can facilitate the diagnosis of rare and diagnostically challenging haemoglobinopathy cases attributed to CNVs. Importantly, it facilitates the filtering of available entries based on the type of breakpoint information, on specific chromosomal and locus positions, on MLPA probes, and on affected gene(s). IthaCNVs brings together manually curated information about CNV genomic locations, functional effects, and information that can facilitate CNV characterisation through MLPA. It can help laboratory staff and clinicians confirm suspected diagnosis of CNVs based on molecular DNA screening and analysis.

Management of marginal zone lymphomas.

Marginal zone lymphomas (MZLs) represent about 7% of B-cell non-Hodgkin lymphomas and include 3 different subtypes-namely, extranodal (EMZL), nodal, and splenic (SMZL). The initial assessment requires specific diagnostic and staging procedures depending on organ-related peculiarities. In particular, although positron emission tomography/computed tomography was not initially recommended, recent data have reassessed its role in the routine staging of MZL, especially when only localized treatment is planned or there is a suspicion of histologic transformation. Recent findings have improved the risk stratification of MZL patients, highlighting the association of early progression after frontline therapy with worse overall survival. A significant fraction of MZL cases may be related to specific bacterial (ie, Helicobacter pylori in gastric EMZL) or viral infections (hepatis C virus), and in the earlier phases of disease, a variable percentage of patients may respond to anti-infective therapy. Involved-site radiotherapy has a central role in the management of localized EMZL not amenable to or not responding to anti-infective therapy. Although rituximab-based treatments (bendamustine- rituximab in advanced EMZL or rituximab monotherapy in SMZL) have demonstrated favorable results, the current therapeutic scenario is predicted to rapidly change as emerging novel agents, especially Bruton's tyrosine kinase inhibitors, have demonstrated promising efficacy and safety profiles, leading to their approval in the relapsed setting. Moreover, a large variety of novel agents (phosphatidylinositol 3-kinase inhibitors, chimeric antigen receptor T-cells, bispecific antibodies) are being tested in MZL patients with encouraging preliminary results.

Idiopathic pulmonary fibrosis and intestinal disorders: An observational study

Background and aimIdiopathic pulmonary fibrosis (IPF) is a chronic respiratory disease characterized by a progressive decline in lung function and a specific histopathologic pattern defined as usual interstitial pneumonia. Early diagnosis and new therapeutic protocols have contributed to a reduction in disease progression. Thus, some patients may develop extrapulmonary diseases including malignancies and chronic pathologies. The aim of this study was to investigate the frequency of intestinal disorders such as polyps, colorectal carcinoma (CRC), and chronic inflammatory bowel disease (IBD) in patients with IPF. MethodsFrom the database of 189 patients with IPF (148 males, 78.3 %; 41 females, 21.7 %) residing in the district of Modena, we identified 44 patients (36 males, 81.8 %; 8 females, 18.2 %) with a histologically confirmed intestinal disease. ResultsIntestinal polyps were detected in 41 cases (93.2 %), of which 4 were associated with CRC and 1 with IBD; 1 patient had only CRC (2.3 %), and 2 patients had only IBD (4.5 %). Both males and females developed bowel disease, but males seemed to have a higher number of polyps and high-grade adenomas with a predisposition to malignant transformation. ConclusionsAs patients with IPF may present with intestinal diseases that can evolve into malignancies in some cases, they should undergo appropriate follow-up and targeted colorectal screening. Thus, colorectal pathologies should not take a back seat. These preliminary results encourage further research to select suitable patients for specific diagnostic and therapeutic procedures in order to prolong survival and improve the quality of life.

Long COVID-19 Myocarditis and Various Heart Failure Presentations: A Case Series.

(1) Background: Emerging data indicate that the ongoing COVID-19 pandemic may result in long-term cardiovascular complications, among which long COVID-19 myocarditis seems to be one of the most dangerous. Clinical presentation of cardiac inflammation ranges from almost asymptomatic to life-threatening conditions, including heart failure (HF) in different stages. (2) Methods: This is a retrospective case-series study that includes three adults with different clinical presentations of heart failure on grounds of myocarditis after initial COVID-19 infection. (3) Results: All patients had new-onset symptomatic HF of various severity: from a moderately reduced left ventricular ejection fraction in one patient to significantly reduced fractions in the remaining two. Moreover, complex ventricular arrhythmias were present in one case. All patients had confirmed past myocarditis in cardiac magnetic resonance. With optimal medical treatment, cardiac function improved, and the symptoms subsided in all cases. (4) Conclusions: In COVID-19 patients, long COVID myocarditis may be one of the severe complications of this acute disease. The heterogeneity in clinical symptoms and a paucity of specific diagnostic procedures expose the patient to the significant risk of misdiagnosing and further HF development.