Myasthenia gravis: understanding treatment patterns and direct medical costs in the Czech Republic.

Background: Myasthenia gravis (MG) is a rare autoimmune disorder with significant clinical implications, including life-threatening myasthenic crises and exacerbations. Understanding real-world treatment patterns, especially associated direct medical costs, is essential for the effective management of healthcare delivery.

Methods: We conducted a descriptive cohort study using health administrative claims data from the Czech Republic covering more than 1,500 prevalent MG patients.

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.

Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.

Burden of Myasthenia Gravis in the Czech Republic: Analysis of the Nationwide Patient Registry.

Introduction: The main goal of this study was to describe the Czech population of patients with MG in terms of demographics, disease characteristics, management approaches, and treatment trends.

Methods: We selected all patients, both incident and prevalent, who were enrolled in the Czech MyReg registry between August 24, 2015 and November 19, 2021. For the descriptive analysis, all patients enrolled in the registry, regardless of their date of diagnosis or date of enrolment, were included.

Evidence-based commentary on the diagnosis, management, and further research of degenerative cervical spinal cord compression in the absence of clinical symptoms of myelopathy.

Degenerative cervical myelopathy (DCM) represents the final consequence of a series of degenerative changes in the cervical spine, resulting in cervical spinal canal stenosis and mechanical stress on the cervical spinal cord. This process leads to subsequent pathophysiological processes in the spinal cord tissues. The primary mechanism of injury is degenerative compression of the cervical spinal cord, detectable by magnetic resonance imaging (MRI), serving as a hallmark for diagnosing DCM.

Ineffectiveness of hemoadsorption in large animals with abdominal sepsis: a randomized controlled porcine study.

Objectives: The use of hemoadsorption (HA) has become popular in the treatment of vasoplegic states associated with massive cytokine release, including septic shock. However, this approach does not seem to be based on robust evidence, and it does not follow international guidelines. To understand the pathophysiological rationale and timing of HA, we conducted a large animal septic shock experiment.

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Spinal muscular atrophy (SMA) is a genetic disorder that causes progressive degeneration of lower motor neurons and the subsequent loss of muscle function throughout the body. It is the second most common recessive disorder in individuals of European descent and is present in all populations. Accurate tools exist for diagnosing SMA from genome sequencing data.

Salivary Gland Secretory Carcinoma: Clinicopathologic and Genetic Characteristics of 215 Cases and Proposal for a Grading System.

Salivary gland secretory carcinoma (SC), previously mammary analog SC, is a low-grade malignancy characterized by well-defined morphology and an immunohistochemical and genetic profile identical to SC of the breast. Translocation t(12;15)(p13;q25) resulting in the ETV6 :: NTRK3 gene fusion is a characteristic feature of SC along with S100 protein and mammaglobin immunopositivity. The spectrum of genetic alterations for SC continues to evolve.

Shock Index for Early Detection of Low Plasma Fibrinogen in Trauma: A Prospective Observational Cohort Pilot Study.

Shock index (a ratio between heart rate and systolic blood pressure) predicts transfusion requirements and the need for haemostatic resuscitation in severe trauma patients. In the present study, we aimed to determine whether prehospital and on-admission shock index values can be used to predict low plasma fibrinogen in trauma patients. Between January 2016 and February 2017, trauma patients admitted from the helicopter emergency medical service into two large trauma centres in the Czech Republic were prospectively assessed for demographic, laboratory and trauma-associated variables and shock index at scene, during transport and at admission to the emergency department.

Semi-automated detection of cervical spinal cord compression with the Spinal Cord Toolbox.

Background: Degenerative cervical spinal cord compression is becoming increasingly prevalent, yet the MRI criteria that define compression are vague, and vary between studies. This contribution addresses the detection of compression by means of the Spinal Cord Toolbox (SCT) and assesses the variability of the morphometric parameters extracted with it.

Methods: Prospective cross-sectional study.

Worldwide diversity of endophytic fungi and insects associated with dormant tree twigs.

International trade in plants and climate change are two of the main factors causing damaging tree pests (i.e. fungi and insects) to spread into new areas.

Risk factors for depression and anxiety in painful and painless diabetic polyneuropathy: A multicentre observational cross-sectional study.

Background: Despite the high prevalence of depression and anxiety in chronic pain conditions, current knowledge concerning emotional distress among painful diabetic polyneuropathy (pDSPN) and other diabetes mellitus (DM) sufferers is limited.

Methods: This observational multicentre cohort study employed the Hospital Anxiety and Depression Scale, the Beck Depression Inventory II and the State-Trait Anxiety Inventory to assess symptoms of depression and anxiety in several groups with diabetes, as well as in a control group. The study cohort included 347 pDSPN patients aged 63.

Molecular Signatures of Cervical Spinal Cord Pathology in Degenerative Compression.

Degenerative cervical myelopathy (DCM) is a severe consequence of degenerative cervical spinal cord (CSC) compression. The non-myelopathic stage of compression (NMDC) is highly prevalent and often progresses to disabling DCM. This study aims to disclose markers of progressive neurochemical alterations in NMDC and DCM by utilizing an approach based on state-of-the-art proton magnetic resonance spectroscopy (H-MRS).

Diffusion magnetic resonance imaging reveals tract-specific microstructural correlates of electrophysiological impairments in non-myelopathic and myelopathic spinal cord compression.

Background And Purpose: Non-myelopathic degenerative cervical spinal cord compression (NMDC) frequently occurs throughout aging and may progress to potentially irreversible degenerative cervical myelopathy (DCM). Whereas standard clinical magnetic resonance imaging (MRI) and electrophysiological measures assess compression severity and neurological dysfunction, respectively, underlying microstructural deficits still have to be established in NMDC and DCM patients. The study aims to establish tract-specific diffusion MRI markers of electrophysiological deficits to predict the progression of asymptomatic NMDC to symptomatic DCM.

Predictive factors for a severe course of COVID-19 infection in myasthenia gravis patients with an overall impact on myasthenic outcome status and survival.

Background And Purpose: Myasthenia gravis (MG) patients could be a vulnerable group in the pandemic era of coronavirus 2019 (COVID-19) mainly due to respiratory muscle weakness, older age and long-term immunosuppressive treatment. We aimed to define factors predicting the severity of COVID-19 in MG patients and risk of MG exacerbation during COVID-19.

Methods: We evaluated clinical features and outcomes after COVID-19 in 93 MG patients.

HARDI-ZOOMit protocol improves specificity to microstructural changes in presymptomatic myelopathy.

Diffusion magnetic resonance imaging (dMRI) proved promising in patients with non-myelopathic degenerative cervical cord compression (NMDCCC), i.e., without clinically manifested myelopathy.

FNA diagnostics of secondary malignancies in the salivary gland: Bi-institutional experience of 36 cases.

Objective: Fine-needle aspiration (FNA) is a key diagnostic method in the evaluation of salivary gland lesions. Secondary tumors of salivary glands represent only 5% of all malignancies of major salivary glands. The goal of our study was to examine the cytological and clinical features of secondary tumors sampled by FNA.

The Association of methylprednisolone dosing to cessation of myotonia in a patient with myotonic dystrophy type 1.

We report the case of a patient suffering from duplicity of myotonic dystrophy type 1 and ulcerative colitis whose treatment for ulcerative colitis included repeated administrations of descending doses of methylprednisolone and in whom we found an association between methylprednisolone dosing and cessation of myotonia. Myotonia severity was expressed as relaxation time after voluntary contraction and as a patient-reported outcome using the Czech version of the Myotonia Behavior Scale. The patient was being treated for a flare of ulcerative colitis, starting with 32 mg of methylprednisolone and reducing the dose by 4 mg a week.

[Acute mesenteric ischemia as a fatal complication of infectious disease in a high-risk patient: a case report].

Acute mesenteric ischemia is a serious problem with high morbidity and mortality rates. Mesenteric ischemia is difficult to diagnose and treat, mainly due to late diagnosis when irreversible changes are already present. The authors present a case of a patient who died after being admitted to an infectious disease department with gastroenteritis subsequently complicated by acute mesenteric ischemia.

Inflammatory myofibroblastic tumor of the uterus - case report.

Inflammatory myofibroblastic tumor (IMT) of the uterus is rare but probably underdiagnosed tumor. It is usually benign but small fraction of cases may locally recur or rarely metastasize. Herein, we present a case report of 66-year-old patient with uterine IMT originally diagnosed as leiomyosarcoma of the uterus.

Immunohistochemical and genetic analysis of respiratory epithelial adenomatoid hamartomas and seromucinous hamartomas: are they precursor lesions to sinonasal low-grade tubulopapillary adenocarcinomas?

Respiratory epithelial adenomatoid hamartoma (REAH) and seromucinous hamartoma (SH) are rare tumor-like lesions of the nasal cavity, paranasal sinuses, and nasopharynx. The pathogenesis of REAH/SH is still unclear. Neoplastic proliferation, chronic mechanical irritation, inflammation, or possible embryological tissue misplacement are speculated as possible mechanisms of their development.

Fistuloclysis as a method of nutritional management in a patient with high output enteroatmospheric fistula - a case report.

Enteric fistula is a pathological communication between the small intestine and surrounding tissue. In case of communication with body surface it is called an enterocutaneous or enteroatmospheric fistula. There are many causes of enterocutaneous/enteroatmospheric fistula occurrence.

Esophageal cancer results of surgical treatment at the Department of Surgery I. at the University Hospital Olomouc.

The authors present the results of surgical treatment of esophageal cancer at Department of Surgery I, University Hospital Olomouc between 20062016. The aim of the study was to use retrospective analysis to evaluate the results of patients operated for esophageal cancer and statistically evaluate the results based on the type of surgical approach (transhiatal, transthoracic). Method: A total of 240 patients with esophageal cancer were operated at Department of Surgery I between the beginning of 2006 and the end of 2016.

Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2.

Introduction: The objective of this study was to develop a simple method for quantitative assessment of myotonia in patients with myotonic dystrophy type 1 (DM1) and DM2, to compare the myotonia severity, and to correlate this objective outcome with a subjective scale, the Myotonia Behaviour Scale (MBS).

Methods: A commercially available dynamometer was used for all measurements. The relaxation time after voluntary contraction was measured in 20 patients with DM1, 25 patients with DM2, and 35 healthy controls.