AIMS: Ossifying fibromyxoid tumour is a rare mesenchymal neoplasm predominantly affecting adults characterised by a multinodular growth pattern and the presence of a fibrous pseudocapsule with areas of ossification. Prompted by the recognition of a non-ossifying ossifying fibromyxoid tumour with lipomatous differentiation which caused diagnostic difficulty, we sought to further explore cases of ossifying fibromyxoid tumour with non-osseous heterologous elements. METHODS AND RESULTS: A search of our institutional and consultation archives revealed three additional cases that demonstrated lipomatous components and two cases with cartilaginous differentiation. RNA-sequencing revealed fusions involving PHF1 (n = 4) or EPC1 (n = 1) in all (five of five) cases tested, including EPC1::PHC1 and JAZF1::PHF1 fusions, which have not been reported before in ossifying fibromyxoid tumour. CONCLUSION: These six cases expand the histomorphological spectrum of ossifying fibromyxoid tumour, introducing lipomatous differentiation as a hitherto undocumented feature. Awareness of these rare variants will ensure appropriate diagnosis and clinical management.
- MeSH
- Cell Differentiation MeSH
- Cartilage pathology MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Lipoma * pathology diagnosis genetics MeSH
- Soft Tissue Neoplasms * pathology diagnosis genetics MeSH
- Fibroma, Ossifying * pathology diagnosis genetics MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
Uterine sarcomas with KAT6B/A::KANSL1 fusion represent a new entity characterized by bland morphology, commonly with hybrid features of low-grade endometrial stromal sarcoma (LG-ESS) and tumors with smooth muscle differentiation. In our study, we performed a detailed morphological, immunohistochemical, and molecular analysis of 9 cases of these tumors. Six of those had been originally diagnosed as LG-ESS, one as leiomyoma, one as leiomyosarcoma, and the remaining case as sarcoma with the KAT6B/A::KANSL1 fusion. Seven cases showed overlapping features between endometrial stromal and smooth muscle tumors, one case resembled cellular leiomyoma, and one case resembled high-grade endometrial stromal sarcoma. Immunohistochemically, the tumors showed a common expression of smooth muscle markers and endometrial stromal markers. Molecular findings showed the KAT6B/A::KANSL1 fusion in all cases (by NGS and FISH). In addition, mutations affecting genes such as TP53, PDGFRB, NF1, RB1, PTEN, ATM, RB1, FANCD2, and TSC1 were present in all 5 cases with aggressive behavior. One patient with no evidence of disease showed no additional mutations, while another harbored a mutation of a single gene (ERCC3). Of the 8 patients with available follow-up, two died of disease, 3 are currently alive with disease, and 3 have no evidence of disease. The correct recognition of tumors with the KAT6B/A::KANSL1 fusion is essential because despite the bland morphological features of most cases, these tumors have a propensity for aggressive behavior.
- MeSH
- Adult MeSH
- Sarcoma, Endometrial Stromal genetics pathology MeSH
- Oncogene Proteins, Fusion genetics MeSH
- Histone Acetyltransferases genetics MeSH
- Immunohistochemistry MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation MeSH
- Biomarkers, Tumor * genetics analysis MeSH
- Uterine Neoplasms * pathology genetics MeSH
- Sarcoma genetics pathology MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
OBJECTIVES: Nonpharmacologic interventions (NPIs) constitute an important part of treatment for older adults, cover a broad and diverse range of interventions, and have advantages over pharmacologic interventions (eg, limited adverse side effects). However, an unambiguous definition of NPIs is still lacking. Defining NPIs may facilitate research on this topic and enhance comparability of results between studies, and might help to face the challenges of recognition, acceptation, funding, and implementation. Therefore, the aim of this review was to provide an overview and comparison of the definitions of NPIs used in the current literature on older adults. DESIGN: A systematic review was performed to provide an overview of the definitions of NPIs that are used in the current literature on older populations and to organize the characteristics involved in the definitions. SETTING AND PARTICIPANTS: People ≥60 years of age were included, not limited to a specific setting. METHODS: A systematic search was performed in the following 5 databases: PubMed, Embase, Clarivate Analytics/Web of Science Core Collection, Cumulative Index to Nursing and Allied Health Literature, and Wiley/Cochrane Library. The time frame within the databases was from inception to December 4, 2023. Review articles, editorials and consensus papers were included. RESULTS: We included 28 articles. We organized the definitions of NPI according to 4 different aspects: types of interventions involved, target population, goals the interventions addressed, and requirements of the interventions. Definitions in the current literature can generally be divided into 2 groups: NPIs described as not involving medication, and more elaborated multidomain definitions. Based on the results, we formulated criteria for types of interventions that can be considered an NPI. CONCLUSIONS AND IMPLICATIONS: Using current descriptions and characteristics, elements for a new definition for NPIs were proposed. To improve research in this field, consensus needs to be reached regarding elements covered by a definition of NPIs.
- MeSH
- Middle Aged MeSH
- Humans MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Therapeutics * methods MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Systematic Review MeSH
The FGFR3::TACC3 fusion has been reported in subsets of diverse cancers including urothelial and squamous cell carcinomas (SCC). However, the morphology of FGFR3::TACC3-positive head and neck carcinomas has not been well studied and it is unclear if this fusion represents a random event, or if it might characterize a morphologically distinct tumor type. We describe nine FGFR3::TACC3 fusion-positive head and neck carcinomas affecting six males and three females aged 38 to 89 years (median, 59). The tumors originated in the sinonasal tract (n = 4), parotid gland (n = 2), and one case each in the oropharynx, submandibular gland, and larynx. At last follow-up (9-21 months; median, 11), four patients developed local recurrence and/or distant metastases, two died of disease at 11 and 12 months, one died of other cause, one was alive with disease, and two were disease-free. Three of six tumors harbored high risk oncogenic HPV infection (HPV33, HPV18, one unspecified). Histologically, three tumors revealed non-keratinizing transitional cell-like or non-descript morphology with variable mixed inflammatory infiltrate reminiscent of mucoepidermoid or DEK::AFF2 carcinoma (all were HPV-negative), and three were HPV-associated (all sinonasal) with multiphenotypic (1) and non-intestinal adenocarcinoma (2) pattern, respectively. One salivary gland tumor showed poorly cohesive large epithelioid cells with prominent background inflammation and expressed AR and GATA3, in line with a possible salivary duct carcinoma variant. Two tumors were conventional SCC. Targeted RNA sequencing revealed an in-frame FGFR3::TACC3 fusion in all cases. This series highlights heterogeneity of head and neck carcinomas harboring FGFR3::TACC3 fusions, which segregates into three categories: (1) unclassified HPV-negative category, morphologically distinct from SCC and other entities; (2) heterogeneous group of HPV-associated carcinomas; and (3) conventional SCC. A driver role of the FGFR3::TACC3 fusion in the first category (as a potential distinct entity) remains to be further studied. In the light of available FGFR-targeting therapies, delineation of these tumors and enhanced recognition is recommended.
- MeSH
- Squamous Cell Carcinoma of Head and Neck virology pathology genetics MeSH
- Adult MeSH
- Phenotype MeSH
- Oncogene Proteins, Fusion genetics MeSH
- Papillomavirus Infections * pathology complications genetics virology MeSH
- Middle Aged MeSH
- Humans MeSH
- Biomarkers, Tumor genetics MeSH
- Head and Neck Neoplasms * pathology virology genetics MeSH
- Microtubule-Associated Proteins genetics MeSH
- Receptor, Fibroblast Growth Factor, Type 3 * genetics MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Carcinoma, Squamous Cell pathology genetics virology MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Human migration is an increasingly common phenomenon and migrants are at risk of disadvantageous treatment. We reasoned that migrants may receive differential treatment by locals based on the closeness of their facial features to the host average. Residents of Türkiye, the country with the largest number of refugees currently, served as participants. Because many of these refugees are of Arabic origin, we created target facial stimuli varying along the axis connecting Turkish and Arabic morphological prototypes (excluding skin colour) computed using geometric morphometrics and available databases. Participants made judgements of two universal dimensions of social perception-warmth and competence-on these faces. We predicted that participants judging faces manipulated towards the Turkish average would provide higher warmth and competence ratings compared to judging the same faces manipulated towards the Arabic average. Bayesian statistical tools were employed to estimate parameter values in multilevel models with intercorrelated varying effects. The findings did not support the prediction and revealed raters (as well as target faces) to be an important source of variation in social judgements. In the absence of simple cues (e.g. skin colour, group labels), the effect of facial morphology on social judgements may be much more complex than previously assumed.
- MeSH
- Bayes Theorem MeSH
- Adult MeSH
- Humans MeSH
- Judgment * MeSH
- Adolescent MeSH
- Young Adult MeSH
- Face anatomy & histology MeSH
- Facial Recognition physiology MeSH
- Social Perception * MeSH
- Stereotyping * MeSH
- Refugees psychology MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Turkey MeSH
Psoriatická artritida (PsA) je zánětlivá séronegativní artritida silně asociovaná s psoriázou. Rozpoznání klinických příznaků PsA je stěžejní, neboť neléčené onemocnění může vést k destruktivním a nevratným změnám kloubů, zhoršení fyzických funkcí a výraznému snížení kvality života. Dermatologové by měli být připraveni na včasné odhalení PsA, protože kožní projevy obvykle (až u 80 % pacientů) předcházejí rozvoji kloubního postižení. Rozpoznání PsA u pacientů s psoriázou zůstává pro dermatology výzvou. Diagnostické zpoždění ≥ 6 měsíců od nástupu symptomů může mít za následek poškození kloubu a pokles funkčních schopností. Guselkumab je indikován nejen k léčbě psoriázy, ale také k léčbě psoriatické artritidy. Ve studiích prokázal přijatelný dlouhodobý bezpečnostní profil a přetrvávající účinnost, což potvrzují i naše zkušenosti prezentované v kazuistice 47leté pacientky s psoriázou a aktivní psoriatickou artritidou úspěšně léčené guselkumabem.
Psoriatic arthritis (PsA) is an inflammatory seronegative arthritis strongly associated with psoriasis. Recognition of the clinical signs of PsA is crucial, as untreated disease can lead to destructive and irreversible joint changes, impaired physical function and a significant reduction in quality of life. Dermatologists should be alert to the early detection of PsA, as skin manifestations usually (up to 80% of patients) precede the development of joint involvement. Recognition of PsA in patients with psoriasis remains a challenge for dermatologists. A diagnostic delay of ≥ 6 months from the onset of symptoms can result in joint damage and functional decline. Guselkumab is indicated not only for the treatment of psoriasis but also for the treatment of psoriatic arthritis. In studies, it has demonstrated an acceptable long-term safety profile and persistent efficacy, which is confirmed by our experience presented in a case report of a 47-year-old patient with psoriasis and active psoriatic arthritis successfully treated with guselkumab.
Zavedení hrudního drénu, ačkoli jde o relativně rutinní chirurgický výkon prováděný na chirurgických pracovištích všech typů, stále v běžné praxi vyvolává určité nejistoty ohledně indikací, optimálního načasování extrakce a řešení možných komplikací. Hrudní drenáž je navíc často prováděna i lékaři z nechirurgických oborů, zejména v podmínkách intenzivní péče nebo na plicních odděleních. Cílem tohoto přehledového článku je prostřednictvím jednoduše aplikovatelných doporučení, založených na aktuálních vědeckých poznatcích, objasnit klíčové aspekty spojené s hrudní drenáží. Publikace se zaměřuje především na akutní zavádění drénu pro pneumotorax a fluidotorax, anatomická a technická specifika výkonu, správnou lokalizaci místa drenáže, volbu vhodného drénu, zásady péče o pacienta, prevence i rozpoznání potenciálně závažných stavů a řešení nejčastějších komplikací.
Although the insertion of a chest drain is a minor and common surgical procedure performed across all types of surgical departments, it continues to raise some uncertainties in clinical practice regarding indications, optimal timing of removal, and management of potential complications. Moreover, chest drainage is often performed by physicians from non-surgical specialties, particularly in intensive care settings or pulmonary departments. The aim of this review article is to clarify the key aspects of chest drainage through easily applicable recommendations based on current scientific evidence. The publication primarily focuses on the acute insertion of chest drains for pneumothorax and pleural effusion, addressing the anatomical and technical specifics of the procedure, proper localization of the drainage site, selection of an appropriate drain, principles of patient care, prevention and recognition of potentially serious conditions, and management of the most common complications.
- MeSH
- Thoracic Wall anatomy & histology MeSH
- Humans MeSH
- Pleural Effusion therapy MeSH
- Pneumothorax therapy MeSH
- Drainage, Postural * methods adverse effects MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
Eozinofilní ezofagitida je chronické zánětlivé, imunologicky podmíněné onemocnění, charakterizované patologickou infiltrací sliznice jícnu eozinofilními granulocyty. Na vzniku nemoci se podílí genetická predispozice a faktory vnějšího prostředí. Stanovení správné diagnózy se u dětí opírá o klinické příznaky dysfunkce jícnu, zvracení, neprospívání a typický histologický nález. Velmi častou komorbiditou jsou alergická onemocnění. Cílem léčby je odstranit klinické příznaky onemocnění, potlačit infiltraci jícnu eozinofilními granulocyty a zabránit komplikacím, zejména přestavbě stěny (remodelace) a zúžení jícnu. U dětí je nezbytné zajistit správný růst a vývoj. Léčba je komplexní a zahrnuje empirickou eliminační dietu nebo kombinovanou farmakoterapii inhibitorem protonové pumpy nebo topickým kortikosteroidem (budesonid jako suspenze nebo rozpustná tableta). U nejtěžších případů je indikována celková farmakoterapie prednisonem a biologická léčba (dupilumabem). Kazuistika u chlapce ukazuje na úskalí diagnostiky eozinofilní ezofagitidy v kojeneckém věku a na nutnost mezioborové spolupráce nejen při stanovení správné diagnózy a zahájení adekvátní komplexní léčby za nezbytné spolupráce rodičů nemocného dítěte, ale i při dispenzární péči a včasném rozpoznání recidivy onemocnění.
Eosinophilic esophagitis is a chronic inflammatory immune-mediated disease characterized by pathological eosinophilic infiltration of the esophageal wall. Genetic predisposition and environmental factors contribute to the development of this illnes. Establishing the correct diagnosis in children is based on clinical symptoms of esophageal dysfunction, vomiting, failure to thrive and typical histological findings. Allergic diseases are very common comorbidities. The treatment aims to remove the clinical symptoms of the disease, suppress the infiltration of the esophagus by eosinophilic granulocytes, and prevent complications, especially the remodeling of the esophagus wall with its subsequent narrowing. Ensuring proper children's growth and development is essential. Treatment of eosinophilic esophagitis is comprehensive and includes empiric elimination diet, or pharmacotherapy with proton pump inhibitors, or topical corticosteroids. In the most severe cases, systemic pharmacotherapy with prednisone and biological treatment is indicated dupilumab. The presented case report illustrates the difficulties in diagnosing in infancy and the necessity of an interdisciplinary approach (pediatrician-gastroenterologist-allergist) not only in establishing the correct diagnosis and starting adequate treatment necessitating the cooperation of the chilďs parents but also in long-term care and early recognition of the possible disease recurrence.
Artists and laypeople differ in their ability to create drawings. Previous research has shown that artists have improved memory performance during drawing; however, it is unclear whether they have better visual memory after the drawing is finished. In this paper, we focused on the question of differences in visual memory between art students and the general population in two studies. In Study 1, both groups studied a set of images and later drew them in a surprise visual recall test. In Study 2, the drawings from Study 1 were evaluated by a different set of raters based on their drawing quality and similarity to the original image to link drawing evaluations with memory performance for both groups. We found that both groups showed comparable visual recognition memory performance; however, the artist group showed increased recall memory performance. Moreover, they produced drawings that were both better quality and more similar to the original image. Individually, participants whose drawings were rated as better showed higher recognition accuracy. Results from Study 2 also have practical implications for the usage of drawing as a tool for measuring free recall - the majority of the drawings were recognizable, and raters showed a high level of consistency during their evaluation of the drawings. Taken together, we found that artists have better visual recall memory than laypeople.
- MeSH
- Adult MeSH
- Humans MeSH
- Young Adult MeSH
- Mental Recall * physiology MeSH
- Recognition, Psychology * physiology MeSH
- Pattern Recognition, Visual * physiology MeSH
- Students * MeSH
- Art * MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Tato kazuistika popisuje případ fatální střevní neprůchodnosti u čtyřleté dívky způsobené malrotací a vnitřní kýlou, která vedla k uskřinutí a nekróze tenkého střeva. Přestože byla okamžitě zahájena resuscitace, během několika hodin od nástupu prvních příznaků došlo k multiorgánovému selhání a úmrtí. Pitva odhalila rozsáhlé ischemické změny na tenkém střevě a vrozený defekt mezokolon jako příčinu vzniku vnitřní kýly. Tento případ poukazuje na zásadní význam zvažování vnitřních kýl v diferenciální diagnostice akutního břicha u dětských pacientů a zdůrazňuje potřebu rychlého chirurgického zákroku. Včasné rozpoznání a léčba mají zásadní význam pro prevenci katastrofických následků u těchto vzácných, ale život ohrožujících stavů.
This case report describes a case of fatal intestinal obstruction in a 4-year-old girl caused by malrotation and internal hernia, which led to distortion and necrosis of the small intestine. Although resuscitation was immediately initiated, multiorgan failure and death occurred within hours of the onset of the first symptoms. Autopsy revealed extensive ischemic changes in the small intestine and a congenital mesocolon defect as the cause of the internal hernia. This case highlights the critical importance of considering internal hernias in the differential diagnosis of acute abdomen in pediatric patients and emphasizes the need for prompt surgical intervention. Early recognition and treatment are essential to prevent catastrophic consequences in these rare but life-threatening conditions.
- MeSH
- Dilatation, Pathologic etiology pathology MeSH
- Fatal Outcome MeSH
- Humans MeSH
- Mesocolon abnormalities MeSH
- Multiple Organ Failure etiology MeSH
- Necrosis etiology MeSH
- Delayed Diagnosis adverse effects MeSH
- Autopsy MeSH
- Child, Preschool MeSH
- Intestinal Obstruction * etiology pathology MeSH
- Intestine, Small pathology MeSH
- Internal Hernia * diagnosis etiology complications pathology MeSH
- Intestinal Volvulus complications pathology MeSH
- Check Tag
- Humans MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Case Reports MeSH