Coronary artery anomalie as a cause of acute coronary syndrome - a case study

Anomalie tętnic wieńcowych to rzadko spotykane nieprawidłowości, występujące zaledwie u 0,2-0,4% pacjentów z problemami sercowo-naczyniowymi. Do najczęstszych zaburzeń tego typu zalicza się przetokę tętnic wieńcowych i mostek mięśniowy. Ich obecność może objawiać się w postaci choroby niedokrwiennej serca, groźnych dla życia zaburzeń rytmu, a nawet prowadzić do niewydolności krążenia i zgonu. Manifestacja kliniczna anomalii jest różnorodna i warunkuje dalszą diagnostykę oraz leczenie. Do badań wykonywanych w pierwszej kolejności zaliczane są elektrokardiografia i koronarografia. Celem pracy było przedstawienie postępowania diagnostyczno-leczniczego w przypadku ostrego zespołu wieńcowego wywołanego obecnością anomalii tętnic wieńcowych. Praca ma charakter kazuistyczny. W pierwszej części przedstawiono specyfikę zaburzeń, opisano techniki diagnostyczne stosowane przy ustaleniu rozpoznania oraz sposoby leczenia. W części drugiej przedstawiono opis przypadku 61-letniej chorej przyjętej z powodu epizodu ostrego zespołu wieńcowego, u której w trakcie diagnostyki rozpoznano anomalie tętnic wieńcowych.Coronary artery anomalies are very rarely encountered abnormalities, that occur barely among 0,2% - 0,4% of patients suffering from cardiovascular problems. The most common disturbances of that kind are coronary artery fistula and myocardial bridge. Their presence can appear in a shape of ischaemic heart disease, life threatening atrial fibrillation and even result in circulatory insufficiency or demise. Clinical manifestation of anomalies is diverse and determines further evaluation and treatment. Examinations that are taken in the first place qualify ECG and coronary catheterization. The aim of the study was to present diagnostic and therapeutic in acute coronary syndrome, caused by the presence of anomalous coronary arteries. The thesis is casuistic. The first part presents specifics of disorders, what is more, diagnostic techniques used in the diagnosis and treatment methods are described. The second part of the thesis introduces the case study of 61-year old afflicted, being admitted because of acute coronary syndrome, which was diagnosed coronary artery anomalies

Dermoscopic Features of Lichen Amyloidosis in Caucasians—A Case Series and Literature Review

Primary cutaneous amyloidosis (PCA) is characterized by the extracellular deposition of amyloid in the skin without systemic involvement. It comprises several clinical variants, the most common of which are macular amyloidosis (MA) and lichen amyloidosis (LA). PCA is frequently observed in Asians, while it is considered to be very rare in Caucasians. In the latter population, the condition often poses a diagnostic challenge. Dermoscopy has already been proved to be a useful, non-invasive diagnostic tool in various non-neoplastic skin diseases. In the paper, we present three Caucasian patients (skin phototypes I–II) with histologically confirmed LA. Under dermoscopy, central white hubs with grayish-brown dots and globules were observed in all three cases. Vascular structures were present in two cases and had the morphology of red globules and thick, unfocused branching lines intersecting the white hubs. A comprehensive review of the literature retrieved twelve papers presenting the dermoscopic features of PCA, including five articles on the dermoscopy of LA. The vast majority of these studies have been conducted on the Asian population, and there is a lack of data on the dermoscopic findings for patients with skin type I or II. The literature review revealed that MA and LA share several dermoscopic similarities (the presence of a white central hub and grayish dots), but also display distinct features. Compared to the dermoscopic features of LA in darker skin phototypes, our patients presented less pronounced pigmentation and more evident vascular structures. Nevertheless, further studies are needed in order to reliably evaluate the dermoscopic features of PCA in various ethnicities

Higher EU-TIRADS-Score Correlated with BRAF V600E Positivity in the Early Stage of Papillary Thyroid Carcinoma

The data demonstrating a correlation between sonographic markers of malignancy of thyroid cancer (TC) and its genetic status are scarce. This study aimed to assess whether the addition of genetic analysis at the preoperative step of TC patients’ stratification could aid their clinical management. The material consisted of formalin-fixed paraffin-embedded tumor fragments of 49 patients who underwent thyroidectomy during the early stages of papillary TC (PTC). Tumor DNA and RNA were subjected to next-generation sequencing (NGS) on Ion Proton using the Oncomine™ Comprehensive Assay panel. We observed a significant correlation between BRAF V600E and a higher EU-TIRADS score (p-value = 0.02) with a correlation between hypoechogenicity and taller-than-wide tumor shape in analysed patients. There were no other significant associations between the identified genetic variants and other clinicopathological features. For TC patient’s stratification, a strong suspicion of BRAF V600E negativity in preoperative management of TC patients could limit the over-treatment of asymptomatic, very low-risk, indolent disease and leave room for active surveillance

Serum Metabolite Biomarkers for Pancreatic Tumors: Neuroendocrine and Pancreatic Ductal Adenocarcinomas—A Preliminary Study

Background: Pancreatic cancer is the most common pancreatic solid malignancy with an aggressive clinical course and low survival rate. There are a limited number of reliable prognostic biomarkers and a need to understand the pathogenesis of pancreatic tumors; neuroendocrine (PNET) and pancreatic ductal adenocarcinomas (PDAC) encouraged us to analyze the serum metabolome of pancreatic tumors and disturbances in the metabolism of PDAC and PNET. Methods: Using the AbsoluteIDQ® p180 kit (Biocrates Life Sciences AG, Innsbruck, Austria) with liquid chromatography–mass spectrometry (LC-MS), we identified changes in metabolite profiles and disrupted metabolic pathways serum of NET and PDAC patients. Results: The concentration of six metabolites showed statistically significant differences between the control group and PDAC patients (p.adj < 0.05). Glutamine (Gln), acetylcarnitine (C2), and citrulline (Cit) presented a lower concentration in the serum of PDAC patients, while phosphatidylcholine aa C32:0 (PC aa C32:0), sphingomyelin C26:1 (SM C26:1), and glutamic acid (Glu) achieved higher concentrations compared to serum samples from healthy individuals. Five of the tested metabolites: C2 (FC = 8.67), and serotonin (FC = 2.68) reached higher concentration values in the PNET serum samples compared to PDAC, while phosphatidylcholine aa C34:1 (PC aa C34:1) (FC = −1.46 (0.68)) had a higher concentration in the PDAC samples. The area under the curves (AUC) of the receiver operating characteristic (ROC) curves presented diagnostic power to discriminate pancreatic tumor patients, which were highest for acylcarnitines: C2 with AUC = 0.93, serotonin with AUC = 0.85, and PC aa C34:1 with AUC = 0.86. Conclusions: The observations presented provide better insight into the metabolism of pancreatic tumors, and improve the diagnosis and classification of tumors. Serum-circulating metabolites can be easily monitored without invasive procedures and show the present clinical patients’ condition, helping with pharmacological treatment or dietary strategies