Inherited thrombocytopenias (ITs) encompass a group of rare disorders characterized by diminished platelet count. Recent advancements have unveiled various forms of IT, with inherited thrombocytopenia 2 (THC2) emerging as a prevalent subtype associated with germline variants in the critical 5' untranslated region of the ANKRD26 gene. This region is crucial in regulating the gene expression of ANKRD26, particularly in megakaryocytes. THC2 is an autosomal dominant disorder presenting as mild-to-moderate thrombocytopenia with minimal symptoms, with an increased risk of myeloproliferative malignancies. In our study of a family with suspected IT, three affected individuals harbored the c.-118C>T ANKRD26 variant, while four healthy members carried the c.-140C>G ANKRD26 variant. We performed a functional analysis by studying platelet-specific ANKRD26 gene expression levels using quantitative real-time polymerase-chain reaction. Functional analysis of the c.-118C>T variant showed a significant increase in ANKRD26 expression in affected individuals, supporting its pathogenicity. On the contrary, carriers of the c.-140C>G variant exhibited normal platelet counts and no significant elevation in the ANKRD26 expression, indicating the likely benign nature of this variant. Our findings provide evidence confirming the pathogenicity of the c.-118C>T ANKRD26 variant in THC2 and suggest the likely benign nature of the c.-140C>G variant.
- MeSH
- 5' Untranslated Regions * MeSH
- Adult MeSH
- Genetic Predisposition to Disease MeSH
- Middle Aged MeSH
- Humans MeSH
- Intercellular Signaling Peptides and Proteins MeSH
- Pedigree * MeSH
- Thrombocytopenia * genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Blunt trauma acting against the human body presents the fundamental cause of pulmonary fat embolism (PFE) and fat embolism syndrome. The aim of the present study was to investigate PFE in non-survivors after cardiopulmonary resuscitation (CPR). METHODS: This was a prospective cohort study conducted in University Hospital Ostrava, Czech Republic. Within a 4-year study period, all non-survivors after CPR because of out-of-hospital cardiac arrest were assessed for the study eligibility. The presence/seriousness of PFE was determined by microscopic examination of cryo-sections of lung tissue (staining with Oil Red O). RESULTS: In total, 106 persons after unsuccessful CPR were enrolled in the study. The most frequent cause of death in the study population (63.2% of cases) was cardiac disease (ischemic heart disease); PFE was not determined as the cause of death in any of our study cases. Sternal fractures were identified 66.9%, rib fractures (usually multiple) in 80.2% of study cases; the median number of rib fractures was 10.2 fractures per person. Serious intra-thoracic injuries were found in 34.9% of cases. Microscopic examination of lung cryo-sections revealed PFE in 40 (37.7%) study cases; PFE was most frequently evaluated as grade I or II. Occurrence of sternal and rib fractures was significantly higher in persons with PFE than between persons without PFE (p = 0.033 and p = <0.001). Number of rib fractures was also significantly higher in persons with PFE. The occurrence of serious intra-thoracic injuries was comparable in both our study groups (p = 0.089). CONCLUSIONS: PFE presents a common resuscitation injury which can be found in more than 30% of persons after CPR. Persons with resuscitation skeletal chest fractures have significantly higher risk of PFE development. During autopsy of persons after unsuccessful CPR, it is necessary to distinguish CPR-associated injuries including PFE from injuries that arise from other mechanisms.
Plicní tuková embolie (PTE) je obvykle pozorována u osob se zlomeninami dlouhých kostí, u osob s rozsáhlými pohmožděninami tukové tkáně či popáleninami kožního krytu. Při poskytování nepřímé masáže srdce je tupé násilí směrováno proti střední části hrudníku, zlomeniny skeletu hrudníku pak představují nejčastější komplikaci nepřímé masáže srdce. Zlomeniny hrudníku vznikající v průběhu KPR jsou pravděpodobně nejčastější příčinou nálezu PTE při pitvě resuscitovaných osob. Cílem této práce je zkoumat prevalenci a závažnost PTE u zemřelých osob, u kterých byla před smrtí prováděna kardiopulmonální resuscitace. Ke vzniku PTE dochází u 30–42 % osob, kterým je poskytována nepřímá srdeční masáž; PTE přitom vzniká častěji u osob s resuscitačními zlomeninami skeletu hrudního koše. Pokud je KPR úspěšná, tuková embolie se pak může významnou měrou podílet na vzniku respiračního selhání (ARDS), resp. multiorgánového selhávání. Problematika poranění vznikajících při poskytování KPR má dva medicínské aspekty – klinický a forenzní. Z klinického hlediska je třeba resuscitační poranění zohlednit při poskytování zdravotní péče osobám, u kterých byla KPR úspěšná. Forenzní aspekt je třeba brát v úvahu při posuzování úrazových změn identifikovaných v průběhu autopsie (odlišení těchto nálezů od poranění, která vznikají jinými mechanizmy).
Pulmonary fat embolism (PFE) is usually observed in patients with long bone fractures, patients with extensive subcutaneous fat contusions or skin burns. Chest compressions during cardiopulmonary resuscitation (CPR) present powerful repetitive violence against victim’s chest. Skeletal chest fractures are the most frequent complication of CPR, and probably the most important cause of PFE autopsy finding in persons, which have been resuscitated before death. The aim of the present paper was to investigate the prevalence and seriousness of PFE in non-survivors after out-of-hospital cardiac arrest. During autopsy, PFE can be diagnosed in 30 – 42 % of persons after unsuccessful CPR; skeletal chest fractures are associated with significantly higher prevalence of PFE. After successful CPR, fat embolism may contribute significantly to acute respiratory distress syndrome, or multiorgan failure. The issue of CPR associated injuries has two medical aspects – clinical and forensic. From clinical point of view, the presence of CPR associated injuries must be acknowledged when offering healthcare to patients after successful CPR. During autopsy, CPR associated injuries should be diagnosed and evaluated as these injuries may contribute to death or may be potentially lethal.
- MeSH
- Adult MeSH
- Embolism, Fat * diagnosis etiology physiopathology MeSH
- Fractures, Bone pathology MeSH
- Rib Cage injuries MeSH
- Cardiopulmonary Resuscitation * adverse effects MeSH
- Cohort Studies MeSH
- Middle Aged MeSH
- Humans MeSH
- Heart Massage adverse effects MeSH
- Autopsy MeSH
- Pulmonary Embolism diagnosis etiology physiopathology MeSH
- Prospective Studies MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
Vydání první 75 stran : ilustrace (převážně barevné) ; 30 cm
Vysokoškolská učebnice, která se zaměřuje na histologické a cytologické laboratorní diagnostické techniky.
- MeSH
- Cytological Techniques MeSH
- Cytology MeSH
- Histological Techniques MeSH
- Histology MeSH
- Clinical Laboratory Techniques MeSH
- Conspectus
- Patologie. Klinická medicína
- Učební osnovy. Vyučovací předměty. Učebnice
- NML Fields
- cytologie, klinická cytologie
- histologie
- NML Publication type
- učebnice vysokých škol
Východiská: Hepatocelulárny karcinóm (HCC) je jednou z najčastejších malignít s rastúcou incidenciou. Predstavuje približne 90 % primárnych karcinómov pečene a významný globálny zdravotný problém. Je celosvetovo 5. najčastejším ochorením a 3. najčastejšou príčinou úmrtia spomedzi onkologických ochorení. Výskyt HCC súvisí s faktormi životného prostredia, stravovacími návykmi a životným štýlom. Je častejší u mužov ako u žien. Najvyššia incidencia HCC je v juhovýchodnej Ázii, Číne, v štátoch západnej a centrálnej Afriky, u imigrantov z vysoko rizikových oblastí v USA. V Severnej Amerike, Európe a Japonsku je infekcia vírusom hepatitídy C jeho hlavným rizikovým faktorom spolu s užívaním alkoholu. Moderné liečebné metódy zlepšili výsledky liečby u pacientov s HCC. V prípade včasných štádií HCC je možná kuratívna liečba, chirurgická resekcia, transplantácia pečene a rádiofrekvenčná ablácia. Lokálna chemoterapia a cielená systémová liečba pri pokročilom ochorení HCC predĺžili prežívanie pacientov. Cieľ: Cieľom článku je priblížiť možnosti systémovej liečby HCC v 1. a 2. línii liečby. Sorafenib bol prvý liek schválený americkou Správou pre potraviny a lieky na liečbu pokročilého HCC a je štandardným liekom 1. línie. Prvou voľbou v 2. línii liečby pacientov s progredujúcim ochorením po liečbe sorafenibu je regorafenib. V súčasnosti je imunoterapia adekvátnou možnosťou liečby. Kabozantinib a ramucirumab predstavujú ďalšie možnosti liečby 2. línie.
Background: Hepatocellular carcinoma (HCC) is one of the most common types of cancer with increasing incidence. It accounts for approximately 90% of primary liver cancers and it is a significant global health problem. Globally, it represents the 5th most common disease and it is considered to be the third most common cause of cancer related deaths. The occurrence of HCC is related to environmental factors, eating habits and lifestyle. It is more common in men than in women. The highest incidence of HCC is in Southeast Asia, China, West and Central Africa, and among immigrants from high-risk areas in the United States. In North America, Europe and Japan, hepatitis C virus infection is its major risk factor along with alcohol consumption. Modern therapeutic methods improved the results of the treatment in patients with HCC. In early stages of HCC, curative treatment, surgical resection, liver transplantation, and radiofrequency ablation are possible. In advanced disease, local chemotherapy and systemic targeted therapy have prolonged survival. Purpose: The aim of the article is to present the possibilities of systemic treatment of HCC in first and second lines of the treatment. Sorafenib was the first drug to be approved by the U. S. Food and Drug Administration for the treatment of advanced HCC and is a standard first-line drug. The first choice in the second line treatment of patients with progressive disease (after the treatment with sorafenib) is regorafenib. Nowadays, immunotherapy is also an adequate treatment option. Cabozantinib and ramucirumab represent additional treatment.
Nová metodika sběru dat do Národního onkologického registru (NOR) zavedená od roku 2019 ukládá povinným subjektům zajištění transferu centrálně shromažďovaných informací v závazné struktuře včetně využití klasifikací MKN-10 a SNOMED. Příspěvek reflektuje současný stav využívání mezinárodních klasifikací v ČR s akcentem na klasifikaci SNOMED a navrhuje úpravy, které by měly vést ke snadnějšímu transferu centrálně evidovaných dat.
Introduction: Human papillomavirus (HPV) causes juvenile-onset recurrent respiratory papillomatosis (JORRP). Although HPV is common in children, the prevalence of JORRP is low. It is likely that other factors contribute to the pathogenesis of JORRP, during either activation or reactivation of a latent HPV infection. There is evidence that laryngopharyngeal reflux (LPR) might be such a risk factor for adult-onset recurrent respiratory papillomatosis. This study investigated if LPR might also be a risk factor for JORRP. Materials and Methods: Children with JORRP of the larynx that required microlaryngoscopy at a tertiary referral hospital were included in this prospective case-series study from November 2015 to November 2017. Using immunohistochemistry, HPV infection and pepsin associated with LPR were diagnosed from laryngeal biopsies. Results: Eleven children (aged 4-14 years) were analyzed. No patient had a history of immunodeficiency or tobacco smoke exposure. All patients underwent at least three previous surgeries due to JORRP and had been vaccinated against HPV in the past. Five children were treated using antivirotics and immunomodulators. The only known maternal risk factor was that three mothers were primiparous. All 11 samples were infected with HPV (type 6 or 11). Pathologic LPR was diagnosed in 5/11 children (45.5%). Conclusion: LPR may be a risk factor for JORRP, contributing to its development by activating or reactivating a latent HPV infection. Results are in accordance with those from our previous study in adults.
- MeSH
- Biopsy MeSH
- Child MeSH
- Adult MeSH
- Hypopharynx physiopathology virology MeSH
- Respiratory Tract Infections physiopathology virology MeSH
- Papillomavirus Infections physiopathology virology MeSH
- Laryngopharyngeal Reflux physiopathology virology MeSH
- Humans MeSH
- Adolescent MeSH
- Papillomaviridae pathogenicity MeSH
- Child, Preschool MeSH
- Risk Factors MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Příspěvek se zaměřuje na vybrané principy digitalizace obrazů zpracovaného diagnostického materiálu se zohledněním laboratorního procesu přípravy preparátů. Reflektuje vývoj the-state-of-the-art za období let 2002–2018.
- MeSH
- Cytodiagnosis methods instrumentation MeSH
- Databases, Factual MeSH
- Microscopy, Electron MeSH
- Histocytochemistry methods instrumentation MeSH
- Immunohistochemistry methods instrumentation MeSH
- Web Browser MeSH
- Image Interpretation, Computer-Assisted * methods instrumentation MeSH
- Web Archives as Topic MeSH
The type of tissue response to implant by-products can be determined by examination of periprosthetic tissues. However, little is known about the most suitable location for tissue sampling. The main goal of this study was to evaluate the extent of variability in tissue response in relation to location of tissue sampling, implant fixation, age and sex in total joint arthroplasties with metal-on-polyethylene or ceramic-on-polyethylene bearing pairs. We processed 236 histology slides from 21 patients and focused on the association between the location of tissue samples and histological features. The presence of the synovial hyperplasia showed a significant association with the particular sampling site. A higher density of high endothelial cell venules was seen in the samples from around the joint, and polyethylene particles were more abundant in noncemented TJA but both findings did not show statistically significant association with the sampling site. The results showed a relatively small variance in the tissue response to prosthetic by-products among tissues sampled from the same patient. Our findings indicate that tissue samples retrieved from similar distance from around the TJA during the revision operation show comparable results of histological analysis. © 2017 Wiley Periodicals, Inc. J Biomed Mater Res Part B: Appl Biomater, 106B: 2008-2018, 2018.
- MeSH
- Ceramics * adverse effects chemistry MeSH
- Hip Prosthesis * MeSH
- Middle Aged MeSH
- Humans MeSH
- Arthroplasty, Replacement, Hip * MeSH
- Polyethylene * adverse effects chemistry MeSH
- Prosthesis Design * MeSH
- Retrospective Studies MeSH
- Bone-Implant Interface pathology MeSH
- Prosthesis Failure * MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
