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This review provides a summary of current approaches to Niemann-Pick disease type C (NP-C) dia g - nostics with an emphasis on novel laboratory techniques. NP-C is a severe autosomal recessive neurovisceral disorder and the recent availability of disease-modifying therapies increases the importance of its timely dia gnosis. The hereditary deficiency of cholesterol transporter proteins (NPC1 or NPC2) in NP-C leads to abnormal intracellular lipid traffi cking. Clinical suspicion for NP-C has to be confirmed by bio chemical and/ or molecular genetic methods. Novel bio markers in serum or plasma and advanced sequencing techniques now have a prominent role in NP-C dia gnostics. In a subset of patients, it is necessary to use several complementary techniques for confi rmation of NP- Cdia gnosis, including advanced bio chemical and cellular assays discussed in the paper. These methods therefore have to be available in a specialized laboratory. [ABSTRACT FROM AUTHOR]

Objectives. In the Alternative DSM-5 Model for Personality Disorders, the diagnosis of specific personality disorders is obtained through Personality Inventory for DSM-5 (PID-5) assessment of dimensional personality traits associated in 25 "lower order" facets and 5 "higher order" domains. The aim of the study was to test PID-5 psychometric properties (internal consistency, validity and discrimination capacity). Participants and setting. PID-5 was administered to a community volunteers sample (n = 351) and a clinical sample of psychiatric patients (n = 143) individually and in a group setting using pen-paper method and online data collection. 33 respondents completed the inventory twice to check test-retest reliability. Hypotheses. Evidence will be found to support internal consistency and convergent validity of the PID-5 personality trait domains, as well as their stability in time. Moreover, significant mean-level differences will be found between the two samples. Statistical analyses. The data were analyzed with parallel analysis, Pearson's correlation coefficient, t-tests, and ROC analysis. Results. The study results confirmed excellent internal consistency and satisfactory reliability of all five PID-5 domains in time. Unidimensional structure of the measure was confirmed for 22 of 25 facets. Significant correlations of all trait facets of the tested domains (r = 0.53 - 0.65 for the community sample, and r = 0.43 - 0.66 for the clinical sample) confirmed convergent validity. Significant differences between the two samples in the test scores of four of the five tested domains (absolute value of effect size d = 0.74 - 1.34 within 95% CI) show good discrimination capacity of the method. Study limitations. Two different forms of administration; prevalence of students in the community sample; different test-retest time periods. [ABSTRACT FROM AUTHOR]

The paper offers an insight into diagnostics and therapy of multiple myeloma in the Czech Republic including complications associated with the therapy. Multiple myeloma is classified in the group of rare disease. In a real life this fact is objectively confirmed by initial diagnostic difficulties, but it is subsequently reflected in requiring life situations on the patients and their close relatives. The basic supportive role in the whole system is played by medical and non-profit organizations. The authors offer the results of a short-term questionnaire survey performed in members of the Multiple Myeloma Patients' Club, which was performed in January and February 2015. The objective of the questionnaire survey was to monitor the extent of practical experience of the patients with the accessibility of highly innovative therapeutic drugs used in the treatment of multiple myeloma within specialized center for the therapy of multiple myeloma in the Czech Republic used outside clinical evaluations. The other objective was to monitor the degree of accessibility of social compensations, which - for many patients with this rare disease - are indispensible since the moment of diagnosis. [ABSTRACT FROM AUTHOR]

The concept of classification and diagnosis of axial spondyloarthritis (ax SpA) has been developed in the last 10 years. Axial SpA is basically divided into ankylosing spondylitis (satisfying the so called New York criteria with radiographic sacroiliitis) and so called non-radiographic axial spondyloarthritis, which meets the ASAS criteria. These criteria focus mainly on the new and later again modified criteria for inflammatory back pain (IBP). The first part of the paper presents significant epidemiological studies that evaluate the utilization of individual criteria for inflammatory back pain. The second part of the article discusses different strategies of referring the patients with suspected axial SpA from general practitioners and orthopedic surgeons to specialists (rheumatologists). A simple scheme working with three parameters (inflammatory back pain, HLA B27 antigen positivity, and suspected sacroiliitis on imaging techniques) is equally efficient as more complicated strategies. Positivity of two criteria enables a correct diagnosis of axial SpA in 30-50% of patients. Recently, a so called two-step strategy has been proposed that reduces the number of patients, in whom the determination of HLA-B27 needs to be performed, in half. Novel screening questionnaires, which are filled out by patients, are discussed herein as well. [ABSTRACT FROM AUTHOR]

Chronic infl am matory demyelinating polyradiculoneuropathy (CIDP) is a chronic demyelinat ing polyneuropathy with a relaps ing or progres sive course. This is a dysim mune polyneuropathy with activation of humoral and cel lular mechanisms with a primary lesion of myelin sheath in the peripheral nerves. Most frequent is a typical sym metrical polyneuropathy, multifocal neuropathy with a conduction block is less frequent, then distal sym metrical motor and sensory neuropathy, pure sensory or pure motor neuropathies occur rarely. Development of signs and symp toms beyond 2 months is a com mon feature for all variants. Dia gnosis of CIDP is based on clinical fi ndings, precisely developed electrophysiological criteria, and some laboratory fi ndings - hyperproteinor rhachia with normal cell count, and MRI with thicken ing and enhancement of nerves in brachalis and lumbar plexuses or roots. Corticosteroids or intravenous im munoglobulins are used as induction ther apy as the fi rst-line treatment of CIDP. Therapeutic plasma exchange is a second-line ther apy in patients with ineffi cacy or intolerability of the fi rst-line treatment. As adjuvant ther apy, they use azathioprin, mycofenolate mofetil, ciclosporin A, cyclophosphamide, and methotrexate. CIDP is a treatable neuropathy though in some patients it leads to invalidity. [ABSTRACT FROM AUTHOR]