Diagnostic Course Research Articles

The Liver Biopsy in Neonatal Cholestasis: Just a Cherry on Top?

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The predictive validity and outcome of ICD-10 and DSM-5 short-lived psychotic disorders: a review and meta-analysis.

The ICD-10 Classification of Mental and Behavioural Disorders introduced the category of 'acute and transient psychotic disorders' (ATPDs) encompassing polymorphic, schizophrenic and predominantly delusional subtypes, and the forthcoming ICD-11 revision has restricted it to polymorphic psychotic disorder, while the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) listed 'brief psychotic disorder' (BPD). To assess the predictive validity and outcome of ATPDs and BPD, relevant papers in English, French and German were searched in PubMed and Web of Science. Where possible meta-analysis of prognostic validators (diagnostic stability, course, outcome and response to treatment) was conducted. Fifty studies published between January 1993 and July 2019 were found. The clinical and functional outcome of ATPDs proved better than in schizophrenia and related disorders, but mortality risk is high, particularly suicide, and treatment trials provide little evidence. Meta-analysis of 25 studies (13,507 cases) revealed that 55% (95% CI 49-62) do not change diagnosis, 25% (95% CI 20-31) converted into schizophrenia and related disorders, and 12% (95% CI 7-16) into affective disorders on average over 6.3years. Subgroup meta-analysis estimated prospective consistency of polymorphic psychotic disorder (55%; 95% CI 52-58) significantly greater than that of the ATPD subtypes with schizophrenic (OR1.7; 95% CI 1.4-2.0) and predominantly delusional (OR 1.3; 95% CI 1.1-1.5) symptoms. Moreover, the diagnostic stability of BPD (13 studies; 294 cases) was 45% (95% CI 32-50) over a mean 4.2years. Although these findings indicate that short-lived psychotic disorders have little predictive validity, significant differences among the ATPD subtypes support the revised ICD-11 ATPD category.

ИСПОЛЬЗОВАНИЕ МЕДИЦИНСКОЙ ИНФОРМАЦИОННОЙ СИСТЕМЫ НОВОСИБИРСКОЙ ОБЛАСТИ В ОПТИМИЗАЦИИ ДОКУМЕНТООБОРОТА И ФОРМИРОВАНИЯ ИНТЕГРИРОВАННОЙ ЭЛЕКТРОННОЙ МЕДИЦИНСКОЙ КАРТЫ ПАЦИЕНТА ПРИ ПРОВЕДЕНИИ ПРИЖИЗНЕННОЙ ПАТОЛОГО-АНАТОМИЧЕСКОЙ ДИАГНОСТИКИ БИОЛОГИЧЕСКОГО МАТЕРИАЛА

Early diagnosis of malignant neoplasms is ensured by the quality, accessibility and continuity between medical institutions in the organization of the lifetime pathoanatomical diagnostics of biological material. Improving medical information systems with the involvement of the lifetime pathoanatomical diagnostics in the process of informatization of regional health care, developing mechanisms for documenting, storing and electronic exchange of personal medical information between medical institutions in the Novosibirsk region, is the main task of the system for organizing this type of diagnostics. The urgency of solving this problem is due to the shortage of personnel in the pathoanatomical services, the distance barriers between medical specialists and pathologist; need to ensure the formation of a created system for the exchange of medical documentation. The article presents the experience of using the functionality of the components of the Medical Information System of the Novosibirsk Region (MIS NR) in a regional state budgetary healthcare institution to form a unified information environment, integrate approved accounting forms and ensure efficient workflow in the course of lifetime pathoanatomical diagnostics. The aim of this research is to study the possibilities of additional functionality of the components of the MIS NR, implemented by the employees of the Center for Informatization of Medical Information Analytical Center, to identify the advantages of using the developed functions in optimizing the workflow during the lifetime pathoanatomical diagnostics of biopsy (operative) material, in the formation of a regional Integrated electronic medical record.

Ischemic Cranial Nerve III Palsy: Diagnosis, Management, and Follow-up

Background: Acquired cranial nerve III palsies (CN3P) can be ischemic in nature due to underlying vasculopathy, trauma, or by compressive damage due to aneurysm or tumor. In most cases, neuroimaging is completed to rule out a life-threatening etiology. This case outlines an acute oculomotor palsy due to ischemic microvascular disease with the appropriate diagnostic testing, treatment, and follow-up course. Case Report: A 67-year-old African American female presented with complaints of a drooping left eyelid and intermittent diagonal diplopia. She had a known diagnosis of type 2 diabetes and hypertension. Entering visual acuity was 20/25-1 in the right eye (OD) and 20/40-1 left eye (OS). No afferent pupillary defect was noted OD or OS, however, a sluggish response to light was noted OS. Entrance testing was unremarkable OD. CVF were restricted superiorly OS due to an incomplete ptosis and EOMs were restricted in all gazes except abduction with the eye in a down-and-out position. The patient was sent to the emergency room to rule out a pupil involving CN3P. All testing was unremarkable and a final diagnosis of an ischemic CN3P was made. Conclusion: Prompt diagnosis and neuroimaging is essential in the management of acute CN3P. Clinicians must pay close attention to the pupils as it may reveal the etiology. In this case, the pupil response warranted immediate referral to rule out potential life-threatening etiology. Fortunately, the etiology was determined to be ischemia to the oculomotor nerve from her uncontrolled systemic vasculopathies. Such patients should be monitored regularly until resolution.

Delayed Leukoencephalopathy and Foreign Body Reaction After Endovascular Treatment in Patients With Intracranial Aneurysms and Aneurysmal Subarachnoid Hemorrhage-A Systematic Review of the Literature.

Background: Delayed leukoencephalopathy and foreign body reaction are rare complications after endovascular treatment of intracranial aneurysms. However, cases are increasingly being described, given the rising case numbers and complexity.Methods: Clinical presentation, differentials, diagnostics, treatment, and formerly published data were reviewed in light of available cases. A systematic search of the literature was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement.Results: This article provides an extensive literature review of previously described cases, and discusses the causes and management of this rare and delayed complication by referring to 17 articles on this topic, with a total of 50 cases with sufficient data in the literature. Furthermore, we present the case of a 53-year-old female patient with subarachnoid hemorrhage from a large anterior communicating artery aneurysm with tortuous cervical vessels who was treated with endovascular coiling and has suffered delayed leukoencephalopathy 6 weeks after discharge. Diagnostics, treatment, and clinical course of this rare complication are presented on this case and based on formerly published literature. The patient timely recovered under high dose corticosteroid treatment and follow up MRI showed almost complete remission of the described lesions within 10 days in accordance with previously published data.Conclusion: Foreign body reaction might result in delayed leukoencephalopathy, especially following complex endovascular aneurysm treatment. Early high dose followed by low dose ongoing corticosteroid treatment might result in timely remission.

Role of endoscopic ultrasound in anticancer therapy: Current evidence and future perspectives.

The digestive system is one of the most common sites of malignancies in humans. Since gastrointestinal tumors represent a massive global health burden both in terms of morbidity and health care expenditures, scientists continuously develop novel diagnostic and therapeutic methods to ameliorate the detrimental effects of this group of diseases. Apart from the well-established role of the endoscopic ultrasound (EUS) in the diagnostic course of gastrointestinal and hepatobiliary malignancies, we have recently become acquainted with a vast array of its therapeutic possibilities. A multitude of previously established, evidence-based methods that might now be guided by the EUS emerged: Radiofrequency ablation, brachytherapy, fine needle injection, celiac plexus neurolysis, and endoscopic submucosal dissection. In this review we endeavored to provide a comprehensive overview of the role of these methods in different malignancies of the digestive system, primarily in the treatment and symptom control in pancreatic cancer, and additionally in the management of hepatic, gastrointestinal tumors, and pancreatic cysts.

A Collaborative Model for Integration of Artificial Intelligence in Primary Care

The cost of primary care is rapidly increasing in the developed world, and improving the accuracy of screening and diagnostic testing as well as other areas of primary care can be seen as an essential component in ensuring the long-term sustainability of the quality and efficiency of public health care systems. In this study, the authors propose a simple yet robust model of collaborative decision-making incorporating machine and human competences whereby the strengths and advantages of artificial intelligence methods can be harnessed to improve the overall accuracy of essential testing, diagnostics, screening, and other critical areas of patient care while addressing concerns and ensuring safety and complete human control over the course of diagnostics and treatment. Doi: 10.28991/HEF-2021-02-04-07 Full Text: PDF

From Personalized Medicine to Precision Psychiatry?

Personalised medicine aims to find an individualized approach for each particular patient. Most factors used in current psychiatry, however, depend on the assessment made by the individual clinician and lack a higher degree of reliability. Precision medicine bases decisions on quantifiable indicators available thanks to the tremendous progress in science and technology facilitating the acquisition, processing and analysis of huge amounts of data. So far, psychiatry has not been benefiting enough from the advanced diagnostic technologies; nevertheless, we are witnessing the dawn of the era of precision psychiatry, starting with the gathering of sufficient amounts of data and its analysis by the means of artificial intelligence and machine learning. First results of this approach in psychiatry are available, which facilitate diagnosis assessment, course prediction, and appropriate treatment choice. These processes are often so complex and difficult to understand that they may resemble a “black box”, which can slow down the acceptance of the results of this approach in clinical practice. Still, bringing precision medicine including psychiatry to standard clinical practice is a big challenge that can result in a completely new and transformative concept of health care. Such extensive changes naturally have both their supporters and opponents. This paper aims to familiarize clinically oriented physicians with precision psychiatry and to attract their attention to its recent developments. We cover the theoretical basis of precision medicine, its specifics in psychiatry, and provide examples of its use in the field of diagnostic assessment, course prediction, and appropriate treatment planning.

Abstract 13869: The Impact of Genotype on Aortic Dilation in Pediatric Patients With RASopathy

Introduction: Proximal aortic dilation is an important cause of morbidity and mortality secondary to rupture, dissection, and complications of repair. It has been described as a rare finding in RASopathy, but data is limited regarding prevalence, severity, and genetic factors. This study aims to examine outcomes and genotype associations in pediatric patients with aortic dilation and RASopathy. Methods: A retrospective review performed at a single pediatric referral center. Study population included children with a molecularly confirmed RASopathy diagnosis evaluated between January 2000 and August 2019. Baseline data included demographics, genetic data, cardiac diagnostic data, clinical course, and mortality outcome. Results: Ninety patients were identified (mean age 10.4, female 48%). Aortic dilation was found in 28%. Of these, 68% had mild dilation, while moderate and severe dilation were each seen in 16%. Aortic dilation occurred in all major RASopathy types (Noonan, Noonan with Multiple Lentigenes, Costello, and Cardiofaciocutaneous). Hypertrophic cardiomyopathy was seen in 30% and pulmonary stenosis in 53% of RASopathy patients, with similar prevalence among those with aortic dilation (p=1 and 0.45, respectively). Aortic dilation was more prevalent in RAS ( KRAS , HRAS , NRAS ) variants (4/9 versus 12/81, p=0.0494). It was also seen in 16 of 60 patients with PTPN11 variants in association with all three commonly involved regions (exon 3 of N-SH2 region and exons 8 and 13 of PTP domain). The two patients with extreme dilation (z-score > 6) had variants of amino acids 61 and 63 in exon 3 of PTPN11 . No surgical interventions targeting aortic dilation were performed in any patient, and there were no reports of dissection or rupture. There was no clear progression of dilation, and two patients had complete resolution with time. Discussion: Aortic dilation occurred in all four major types of RASopathy and was associated with most of the affected genes, with distribution along the PTPN11 gene being similar to the distribution of RASopathy. The dilation was not progressive and there were no complications or interventions. RAS genes and exon 3 of the PTPN11 gene demonstrated a possible higher association with aortic dilation and warrant further investigation.

Single Centre Analysis of JAK2 V617F and Exon 12 Negative Idiopathic Erythrocytosis

▪IntroductionThe molecular categorisation of myeloproliferative neoplasms (MPNs) has changed the landscape of diagnosis and treatment. Polycythaemia vera (PV) is characterised by red blood cell proliferation and JAK2 V617F or Exon 12 mutations in up to 98% of patients 1. However, some patients without such mutations have an arduous diagnostic course with varying management and prognostic outcomes 2. We present our experience in managing this challenging cohort and aim to illuminate a potential diagnostic pathway for patients.MethodWe searched electronic records of patients attending haematology clinics over the last 20 years at University College Hospital with a prior diagnosis of PV / erythrocytosis (presenting with raised Haemoglobin (Hb) &/ Haematocrit (Hct)) with no evidence of JAK2 exon 12 or 14 mutations on bone marrow or peripheral blood molecular analysis (multiplex PCR sensitivity 0.1%). We reviewed their diagnostic workup, which included full blood count & where available, bone marrow myeloid (Illumina TruSight Myeloid) & erythroid next generation sequencing (NGS) panels.Results37 patients with JAK2 V617F & Exon 12 mutation negative erythrocytosis were identified. Patients were categorised in to 3 groups 2; idiopathic erythrocytosis (IE), secondary polycythaemia (SP) & high affinity haemoglobinopathies (HAH); patient characteristics are summarised in Table 1. The median age of IE & HAH was younger, their presenting Hb/Hct levels was higher compared to SP, with a male predominance. Constitutional symptoms were only reported in the IE cohort. Erythropoietin (EPO) was elevated in HAH & IE patients but within normal range in SP. Thrombotic events occurred in all cohorts, most frequently in IE. Splenomegaly was reported in 4/21 IE, 1/13 SP, but was not a feature in HAH patients. When performed, IE red cell mass (RCM) studies were raised but within normal range in SP patients. Table 2 details IE cohort erythroid mutations. Myeloid NGS only identified MPL and BCOR mutations of pathogenic significance and multiple single nucleotide polymorphisms of no known significance. No abnormalities were demonstrated in 15% of SP patients that underwent bone marrow myeloid mutational analysis. Venesections (VS) were instigated in 95% of the IE cohort, antiplatelets (AP) in 52%, anticoagulation (AC) in 14% and cytoreductive therapy (CT) in 19% due to intolerance/failure of VS. VS programme was instigated in 46% of SP patients, AP in 7% and AC in 47%.DiscussionThe median age of our IE cohort was 48 yrs with a 19% incidence of thrombosis. Where performed, bone marrow histology demonstrated hypercellularity but was not consistent with MPN diagnostic criteria. Myeloid NGS panel mutations such as BCOR may represent clonal haematopoieis of indeterminate potential. Heterozygous VHL C598T & C376A mutations, in keeping with Chuvash polycythaemia, were demonstrated. Mutations in EGLN1 &BPGM,were detected in our patients, however there was an absence of correlating haematological parameters or family history to support a diagnosis of congenital erythrocytosis (2). Variants of unknown significance were also detected in SH2B3, BMP6 &EGLN3 gene duplication. SP patients were older (median age 68 years) and where performed had normal RCM and no myeloid mutations identified.The initial approach adopted at our centre for diagnosing and managing JAK2 V617F & Exon 12 negative erythocytosis begins with clinical evaluation for secondary causes. This is followed by assessment of EPO level, RCM study, extended molecular mutational analysis involving screening for high affinity haemoglobins, congenital erythrocytosis and bone marrow histology. Where patients are symptomatic or considered at high risk for thrombosis, we venesect to a personalised target and patients are offered AP and/or AC. CT is instigated where VS is not tolerated or ineffective, however this approach is not corroborated in the literature. Our experience highlights the clinical heterogeneity of JAK2 negative erythrocytosis and the need to develop a robust and systematic diagnostic and treatment algorithm with further clarification of the role of molecular profiling.1. William W, Kralovics R. Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017 Feb; 129(6):667-6792. McMullin MF. Idiopathic erythrocytosis: a disappearing entity. Hematology Am Soc Educ Program. 2009; 2009(1):629-635 [Display omitted] DisclosuresSekhar: Novartis: Consultancy, Research Funding.

MODEL OF MECHANISM OF CONVERSION OF EXTERNAL ACTION INTO NATURAL OSCILLATIONS

The work presents a geometrical interpretation of a mathematical model intended to give a specific description of the process of conversion of external dynamic action into natural oscillations of a part. Besides geometrical constructions, the essence of the model stems from the strict logic as well, following which the model does not have a tangible embodiment. Nonetheless, it is a function space, in which the process is being generated and energy of natural oscillations is getting accumulated, i.e. the model is an non-material carrier of free energy of elastic oscillations. Material carrier is the very part. The model is represented as the Riemannian space, in which all dynamic parameters are constant and set to zero, therefore, on the one side, it appears as if it does not have any tangible embodiment. On the other side, by nature, the model is a necessary expansion of the function space, which, on the qualitative level, allows to obtain explanation of a number of processes, which are observed experimentally, but to this day were not provided with a specific substantiation from a physics perspective. The proposed model can be an effective tool for analysis of processes, occurring in the course of non-destructive testing and vibration-based diagnostics. For example, the Article presents a theoretical justification of the process of modelling of cracks in the non-destructive testing methods, using natural oscillations of the item being checked. On top of that, it gives a derivation of the formula determining amount of the crack detected through these methods.

Common Diagnostic Challenges and Pitfalls in Genitourinary Organs, With Emphasis on Immunohistochemical and Molecular Updates.

Lesions in the genitourinary (GU) organs, both benign and malignant, can demonstrate overlapping morphology, and practicing surgical pathologists should be aware of these potential pitfalls and consider a broad differential diagnosis for each specific type of lesion involving the GU organs. The following summary of the contents presented at the 6th Annual Chinese American Pathologists Association (CAPA) Diagnostic Course (October 10-11, 2020), supplemented with relevant literature review, exemplifies the common diagnostic challenges and pitfalls for mass lesions of the GU system of adults, including adrenal gland, with emphasis on immunohistochemical and molecular updates when relevant. To describe the common mass lesions in the GU system of adults, including adrenal gland, with emphasis on the diagnostic challenges and pitfalls that may arise in the pathologic assessment, and to highlight immunohistochemical workups and emerging molecular findings when relevant. The contents presented at the course and literature search comprise our data sources. The diagnostic challenges and pitfalls that arise in the pathologic assessment of the mass lesions in the GU system of adults, including adrenal gland, are common. We summarize the contents presented at the course, supplemented with relevant literature review, and hope to provide a diagnostic framework to evaluate these lesions in routine clinical practice.

Updates and Diagnostic Challenges in Surgical Pathology and Cytopathology.

Updates and Diagnostic Challenges in Surgical Pathology and Cytopathology.

Methods, principles and presumptions of constitutional and conflict diagnostics

The article examines the main elements of constitutional and conflict diagnostics, which is a system of consistently applied methods, legal principles and presumptions, aimed at obtaining information about the causes, content, consequences and methods of preventing and resolving a constitutional conflict. Constitutional and conflict diagnostics is theoretically justified by the author as a new method of the science of constitutional law, which allows lawyers to study constitutional conflicts and constitutional norms of the conflictological type. The use of constitutional and conflict diagnostics will allow to establish and investigate the causal relationship between the formation of law, its normative expression and subsequent law enforcement, which will reflect the constitutional conflict. The author believes that the following methods are used in the course of diagnosing a constitutional conflict: dialectical, systematic, historical, statistical, methods of formal logic, formal-legal method, method of legal modeling, and other methods. The author also proposes to consider as the principles of such diagnostics: the principle of taking into account the specific historical situation, dialectical unity, systematic study of the conflict and the principle of the rule of law. The author suggests considering the following presuppositions used in the course of constitutional and conflict diagnostics: the presumption of the inevitability of constitutional conflicts, the presumption of the solvability of constitutional conflicts, and the presumption of the prevention of conflicts.

Integrating Molecular Biomarker Inputs Into Development and Use of Clinical Cancer Therapeutics.

Biomarkers can contribute to clinical cancer therapeutics at multiple points along the patient’s diagnostic and treatment course. Diagnostic biomarkers can screen or classify patients, while prognostic biomarkers predict their survival. Biomarkers can also predict treatment efficacy or toxicity and are increasingly important in development of novel cancer therapeutics. Strategies for biomarker identification have involved large-scale genomic and proteomic analyses. Pathway-specific biomarkers are already in use to assess the potential efficacy of immunotherapy and targeted cancer therapies. Judicious application of machine learning techniques can identify disease-relevant features from large data sets and improve predictive models. The future of biomarkers likely involves increasing utilization of liquid biopsy and multiple samplings to better understand tumor heterogeneity and identify drug resistance.

Pulmonary Complications After Pediatric Stem Cell Transplant.

The number of disorders that benefit from hematopoietic stem cell transplantation (HSCT) has increased, causing the overall number of HSCT to increase accordingly. Disorders treated by HSCT include malignancy, benign hematologic disorders, bone marrow failure syndromes, and certain genetic diagnoses. Thus, understanding the complications, diagnostic workup of complications, and subsequent treatments has become increasingly important. One such category of complications includes the pulmonary system. While the overall incidence of pulmonary complications has decreased, the morbidity and mortality of these complications remain high. Therefore, having a clear differential diagnosis and diagnostic workup is imperative. Pulmonary complications can be subdivided by time of onset and whether the complication is infectious or non-infectious. While most infectious complications have clear diagnostic criteria and treatment courses, the non-infectious complications are more varied and not always well understood. This review article discusses pulmonary complications of HSCT recipients and outlines current knowledge, gaps in knowledge, and current treatment of each complication. This article includes some adult studies, as there is a significant paucity of pediatric data.

671 Fetus-In-Fetu Found at Excision of An Antenatally Diagnosed Abdominal Mass: Multi-Disciplinary Approach

Abstract We present a case of antenatally detected abdominal mass and an alternative diagnostic course for suspected neonatal neuroblastoma as a result of investigative findings. A female infant presented antenatally with a left upper quadrant mass initially managed as a suspected neonatal neuroblastoma; further cross-sectional imaging suggested a wider differential including teratoma and aided surgical planning. The multi-disciplinary team (MDT) decision was for an early excision at 31 days and post-operative histology identified a diagnosis of fetus-in-fetu (FIF). We describe this case as a compliment to the current literature and an example of a necessary variation to recognised diagnostic and treatment pathways as a result of investigative findings.

Tre-P-22 - The primary cutaneous CD30- positive lymphoproliferative diseases; the own observations of the center, prospects of therapy

Primary cutaneous T-cell lymphomas are the heterogeneous group of T-cell lymphoproliferative diseases (LPD), which are developed mainly in the skin and characterized by diagnostic features, clinical course and therapeutic approach. Primary cutaneous anaplastic lymphoma (с-ALCL) and lymphomatoid papulosis (LyP) are diagnosed In a quarter of cases of all T-cell skin lymphomas. The tumor cells in primary cutaneous CD30-positive skin lymphomas express CD30 in more than 75% of cases. The majority of patients with cutaneous CD30+ LPD have an indolent course with a favorable prognosis, the resistant course of disease develops in about 30% of cases and fatal cases from lymphoma are registered in 8% of cases. Most commonly, the treatment of these forms of LPD includes the surgical removal, radiation therapy or small doses of methotrexate, the systemic chemotherapy is used to generalize the process. Recently, monoclonal antibodies have been included in clinical practice for the treatment of skin lymphomas, one of which is brentuximab vedotin, the use of which has shown a rather high efficiency in the treatment of CD30 + skin lymphomas: more than 2/3 of the patients responded to the treatment, despite the many lines of therapy (median of prior effect is 3.1 for c-ALCL). The general group of patients with cutaneous T-cell lymphomas and who received the consultative-diagnostic or inpatient treatment at the National Research Centre of Hematology includes 328 patients. Among them the CD30-positive cutaneous LPD were verified in 33 patients (10%): 16 patients with LyP, 17 patients with c-ALCL. The eruptions were regressed on its own without specific therapy in 75% of patients with LyP and 4 patients received the treatment. As well as one patient with the relapsing course of disease, with a long period of self-regression of the papules, with the lack of the treatment effect (phototherapy and low-dose methotrexate) received brentuximab vedotin (BV). The complete clinical response was achieved after the first cycle of monotherapy with BV and persists for more than a year. Patients with c-ALCL more frequently needed the specific therapy (76% of patients), only 4 patients were observed with the self-regression of the papules within 6-9 weeks. Most patients received the interferon alfa therapy with the complete clinical response; the rest patients - local radiation therapy, the small doses of methotrexate. The systemic chemotherapy was done to the 5 patients. Considering the common process, however 2 of them died from infectious complications during the chemotherapy, 2 patients had early recurrence and only 1 patient is in the long-lasting complete remission after the high-dose of chemotherapy. In summary, the primary cutaneous CD30 + lymphoproliferative diseases cover a spectrum of benign condition with the so-called "malignant" phenotype. LyP and c-ALCL have a favorable prognosis, 5-year survival rate is exceeding 95%, photo- and immunotherapy are successfully used in the treatment, while the use of systemic chemotherapy should be avoided (shortening of the remissions duration, progression of the infectious complications). The use of targeted therapy (brentuximab vedotin) increases the therapeutic ability in the situations where the routine treatment options are ineffective.

Polymorphism of MBL1 gene in Holstein cattle of Republic of Tatarstan

In recent years, there has been a growing interest in using genetic techniques to create more disease-resistant livestock herds. In such studies, the mannose-binding lectin 1 (MBL1) gene is one of the promising genes because of its important role in the immune system. The study was aimed at studying the polymorphism (p. 2569 T> C) of the MBL1-Hae III gene by PCR-RFLP in the Holstein cattle population of the Republic of Tatarstan. In the course of DNA diagnostics 1059 cows of Integrated Agricultural Production Centre “Stud farm named after Lenin" of the Atninsky district were identified alleles C (0.637) and T (0.363), and genotypes CC (42.3%), TC (42.8%) and TT (14.9%). The variability between the observed and expected distribution of genotypes was 5.98. Chi-square testing found that the genetic balance in the study population was not disturbed. Analysis of the genetic structure of various populations and breeds of cattle demonstrates that, depending on the breed, the frequency of occurrence of one or another genotype changes. The results obtained in the study provide important information that can be used in future breeding and breeding programs using markers for groups of Holstein cattle resistant to diseases.

Rhinomanometry: point of care test (POCT) for allergic rhinitis in children?

Allergic rhinitis (AR) is a global health problem: its prevalence is 23% in Europe, although it is underestimated because as many as 45% of the cases remain undiagnosed. Globally, almost 500 million people suffer from AR, which shows its increasing incidences. The diagnostic course of AR is based on clinical history, supported by anterior rhinoscopy. This inspects the anterior part of the nasal cavity accompanied by allergic sensitivity tests (cutaneous allergic skin tests or specific immunoglobulin E levels). The availability of standardised diagnostic procedures is able to provide objective evaluations of inflammatory situation, and the degree of nasal obstruction may give an advantage in reducing the risk of underestimating the diagnosis of AR. Diagnostic tests with a high level of accuracy are able to provide immediate results, which can sustain the doctor in diagnostic-therapeutic framework. The development of Point of Care Tests (POCTs) could be a useful tool. Considering that nasal obstruction is the most common symptom in patients with AR, the rhinomanometry (RM) test is the most indicated objective evaluation for nasal obstruction. Several studies have also shown the practicability of such diagnostic techniques applied in children. So far, no study has evaluated whether all the applicable requirements are fulfilled by RM in order to be considered as a POCT. The purpose of this perspective was to assess whether all the POCT requirements are fulfilled by RM by conducting a narrative review of the existing literature in which RM has been used in the diagnosis and management of AR in children. A few but encouraging results of studies on children supported the potential use of RM in the area of POCT. However, costs of instruments and the training of personnel involved remain to be explored. The studies support the potential use of RM in POCTs.