{"title":"Correlation Between Real-Time Shear Wave Elastography and Liver Serum Markers in Determining the Stage of Liver Fibrosis in Patients with Chronic Liver Diseases.","authors":"Arzana Hasani Jusufi, Meri Trajkovska","doi":"10.2478/prilozi-2024-0026","DOIUrl":"https://doi.org/10.2478/prilozi-2024-0026","url":null,"abstract":"<p><p><b>Introduction</b>: Non-invasive methods aim to predict the stage of liver fibrosis in line with histological findings via biopsy. Shear wave elastography and serum markers are proven as accurate non-invasive methods for determining liver fibrosis as a modern non-invasive methods compared to liver biopsy in staging hepatic fibrosis. <b>Aims</b>: This study aims to determine the correlation between Shear Wave Elastography and indirect and direct serum markers of fibrosis when staging liver fibrosis. <b>Material and methods</b>: The study was conducted in the Clinic of Gastroenterohepatology, the Institute of Immunology and Human Genetics, and the Institute of Pathology between 2021 and 2023. The study comprises 70 patients with liver lesions, diagnosed based on clinical results, laboratory tests, and ultra-sound imaging. All patients underwent liver biopsy, classified according to Ishak and Metavir score as a reference method for diagnosing liver fibrosis. Real-time shear wave elastography was also performed as a non-invasive method and serum markers were checked for liver fibrosis. <b>Findings</b>: The statistical analysis indicated a positive correlation between the values of direct and indirect liver fibrosis markers and Shear Wave Elastography results. <b>Conclusion</b>: Our study has demonstrated that shear wave elastography has a significant positive correlation with biochemical markers of liver lesions and serum markers of liver fibrosis, whereas it has a negative correlation with platelets.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 3","pages":"85-106"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nikola Gjorgjievski, Vlatko Karanfilovski, Simona Simjanovska, Emine Rushiti, Dragan Cibrev, Pavlina Dzekova-Vidimliski, Ardian Memeti, Fatmir Mexhiti, Argjent Mucha, Elizabeta Poposka, Elena Babalj Banskolieva, Zaku Selami, Nadica Misovska, Maja Kjulibrk-Nedelkovska, Mence Nedelkoska, Gordana Gjorgjievska, Vasiliki Krecova, Olivera Stojceva, Goce Spasovski, Igor Nikolov
{"title":"Trend of Kidney Replacement Therapy in North Macedonia from the Years 2015 Through 2020.","authors":"Nikola Gjorgjievski, Vlatko Karanfilovski, Simona Simjanovska, Emine Rushiti, Dragan Cibrev, Pavlina Dzekova-Vidimliski, Ardian Memeti, Fatmir Mexhiti, Argjent Mucha, Elizabeta Poposka, Elena Babalj Banskolieva, Zaku Selami, Nadica Misovska, Maja Kjulibrk-Nedelkovska, Mence Nedelkoska, Gordana Gjorgjievska, Vasiliki Krecova, Olivera Stojceva, Goce Spasovski, Igor Nikolov","doi":"10.2478/prilozi-2024-0022","DOIUrl":"https://doi.org/10.2478/prilozi-2024-0022","url":null,"abstract":"<p><strong>Introduction: </strong>Kidney replacement therapy (KRT) by dialysis or kidney transplantation represents the main treatment modalities for patients with kidney failure. Here we evaluate the trends in taking care of such patients in North Macedonia from 2015 through 2020.</p><p><strong>Methods: </strong>The patients were analyzed according to age, sex, primary disease, and treatment modality. They were further subdivided into 3 groups: Group 1, prevalent patients; Group 2, incident patients with analysis starting at day 1 of KRT; and Group 3, incident patients with analysis starting at day 91 of KRT.</p><p><strong>Results: </strong>The study included 10,395 person-years, mean age 59.2 ± 9.5 years, male sex 60.2%, hemodialysis therapy 84.7% in 2015 and 85.9% in 2020. Hypertension and diabetes mellitus were the leading causes of kidney disease. Group 1 showed an increase in KRT care of 10.3% (from 799 part per million population [pmp] in 2015 to 881 pmp in 2020). In Group 2 the number of patients was increasing with each successive year, the highest growth being observed in 2019. The patients of Group 3 showed a significant growth during this time period, from 126.5 ppm in 2015 to 162 pmp in 2019, but a subsequent decrease of 16.4% in 2020 (135.5 pmp), probably explained by the SARS-CoV-2 pandemic.</p><p><strong>Conclusion: </strong>In the analyzed period, an increase in the number of patients with kidney failure in need of KRT is observed. We believe that this trend will continue in the following years, which should be taken into account when planning health policies in our country in the future.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 3","pages":"47-56"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Attachment - Emotions Which Shape Development and Well-Functioning in Humans.","authors":"Nada Pop-Jordanova","doi":"10.2478/prilozi-2024-0018","DOIUrl":"10.2478/prilozi-2024-0018","url":null,"abstract":"<p><p>Attachment is the evolutionarily-established process through which humans create bonds with others in order to receive care from them. The attachment system is treated as an emotion regulation device as well as a major stress regulatory system. The intergenerational transmission of attachment is one of the core hypotheses of attachment theory. As a new category, cultural attachment was established, referring to processes that allow culture and its symbols to provide psychological security when and individual is facing threat. Additionally, emotions and feelings could be comprised as \"somatic markers\" which act as signals guiding behaviour towards beneficial outcomes. Thus emotions are very important not only in everyday functioning but also in decision making processes. Relying on multidisciplinary evidence - from neuroscientific, developmental, evolutionary, and clinical sources it was suggested that somaticity, as a specific characteristic of attachment, has the adaptive function to modulate our inclination. In this context, the attachment is confirmed to indispensable emotion in human functioning.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 3","pages":"5-12"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Right to Left Shunt and Cryptogenic Stroke in Patients Over 60 Years Old.","authors":"Sanja Djambazovska Zikova, Anita Arsovska, Danijela Vojtikiv Samoilovska, Svetlana Jovevska, Fatlume Adili Gongo","doi":"10.2478/prilozi-2024-0021","DOIUrl":"https://doi.org/10.2478/prilozi-2024-0021","url":null,"abstract":"<p><strong>Objective: </strong>To determine the possible role of patent foramen ovale (PFO) as indicated by a right to left shunt and cryptogenic stroke in patients aged ≥ 60 years and to compare the prevalence of patent foramen ovale with stroke of known cause.</p><p><strong>Methods: </strong>We prospectively examined the prevalence of PFO using contrast enhanced colour Transcranial Doppler ultrasonography (bubble-cTCD) in 86 consecutive patients aged ≥60 years with transient ischaemic attack (TIA) or stroke and 86 consecutive patients aged <60 years with TIA/stroke as a control group. Patients with cryptogenic stroke were compared to stroke patients with known cause.</p><p><strong>Results: </strong>A significantly higher prevalence of PFO in patients with cryptogenic compared to patients with stroke of known cause was registered in the patients aged < 60 years (56.6% vs.18.8%) and in patients aged ≥ 60 years (37.14% vs.11.76%), respectively. Multivariate analysis adjusted for age, hypertension and coronary disease showed that the existence of R-to-L shunt (RLS) was independently associated with cryptogenic stroke in both, in the younger group (odds ratio 4.012; 95% CI1.323 to 12.171, p =0.0143.70) and in the older group (odds ratio 3.197; 95% CI 1.140 to 10.877, p=0.037).</p><p><strong>Conclusion: </strong>Our findings suggest that PFO is strongly associated with cryptogenic stroke in patients aged ≥ 60 years. Bubble - cTCD was feasible and suitable as a first-line method for the detection of PFO in older patients.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 3","pages":"37-46"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Neurodevelopment of Critical ILL Neonates at the Age of 12 Months.","authors":"Sanja Ristovska, Zoran Gucev, Valentina Dukovska","doi":"10.2478/prilozi-2024-0020","DOIUrl":"https://doi.org/10.2478/prilozi-2024-0020","url":null,"abstract":"<p><p>Critically ill neonates who survive are often left with dire consequences. Cerebral palsy, other neurological and motor deficiencies, intellectual disability, and various degrees of cognitive and behavioral deficiencies all result from neonatal critical diseases. We investigated psychomotor development in 20 children with hypoxic-ischemic encephalopathy (HIE), and as newborns often have multiple comorbidities, the following as well: HIE with respiratory distress syndrome (RDS), infections, hypo and hyperglycemia and hypocalcemia. Socio-demographic, pregnancy and delivery data together with appropriate staging tools in determining the severity of HIE or RDS were utilized in this evaluation. In addition, a physical examination, Apgar score, blood gas analyses, biochemical, microbiological and ultrasound data were also part of this study. A child's psychomotor development includes four main areas: motor skills, language, cognition, and social relationships. The Griffiths Mental Development Scale (GMDS) compares different developmental domains and enables early diagnosis of deficiencies and guidance for appropriate early intervention. Six children (30%) were diagnosed with cerebral palsy. GMDS showed that at the age of one year, 50% of the children had typical development, 5% had mild disability, 20% moderate disability and 25% had severe disability. The severity of HIE, Apgar score, weak muscle tone, seizures, disturbances in glucose homeostasis, comorbidities (sepsis, infection) statistically significantly impacted the outcome. Studies with a greater number of patients are needed to support these findings and enable early interventions to avoid severe consequences of critical illness neonates.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 3","pages":"25-36"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Simonida Crvenkova, Maja Popova, Labina Crvenkova, Antonija Lazarevska
{"title":"Osimertinib-Induced Toxic Epidermal Necrolysis - A Case Report.","authors":"Simonida Crvenkova, Maja Popova, Labina Crvenkova, Antonija Lazarevska","doi":"10.2478/prilozi-2024-0025","DOIUrl":"https://doi.org/10.2478/prilozi-2024-0025","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the rare side effects of Osimertinib in a case of toxic epidermal necrosis.</p><p><strong>Case presentation: </strong>We report on a case of a 44-year old woman with lung adenocarcinoma harboring an EGFR-sensitizing mutation who was treated with Osimertinib as the second-line treatment. Ten days after Osimertinib initiation, a diffuse erythematous rash rapidly spread over the patient's trunk along with vesicles and purpuric macules; furthermore, she developed erythema and exfoliation on the face and trunk and severe mucositis. Toxic epidermal necrolysis (TEN) is life-threatening dermatologic adverse event, caused by a delayed-type drug hypersensitivity reaction. Although skin toxicity is common during treatment with epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs), Osimertinib-associated TEN is very rare.</p><p><strong>Results: </strong>Treatment with systemic steroids and immunoglobulin as well as supportive treatment led to an improvement of her general wellbeing, followed by a remarkable recovery.</p><p><strong>Conclusions: </strong>Although the clinical use of Osimertinib is becoming widespread, the side effects may not be fully understood. Clinicians should indeed pay more attention to the occurrence of side effects and be prepared to deal with them in timely manner.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 3","pages":"77-84"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zivko Popov, Galina Severova, Ognen Ivanovski, Igor Nikolov, Oliver Stankov, Bojan Labacevski, Skender Saidi, Ninoslav Ivanovski
{"title":"Successful Kidney Transplantation Using Elderly Living Donor with Extremely Large Renal Cyst and Double Arteries.","authors":"Zivko Popov, Galina Severova, Ognen Ivanovski, Igor Nikolov, Oliver Stankov, Bojan Labacevski, Skender Saidi, Ninoslav Ivanovski","doi":"10.2478/prilozi-2024-0011","DOIUrl":"10.2478/prilozi-2024-0011","url":null,"abstract":"<p><p>The authors describe a kidney transplant procedure using a living donor with a large cyst and double arteries. Due to the lack of regular transplant activity from a deceased donors, we decided to use the, so called, expanded criteria living donors, which means older age (more than 65 years), hypertension, some structural anomalies of the kidneys (cysts, multiple renal arteries), ABO incompatible kidney transplant, etc. The surgical procedure was the unroofing of a large cyst and wadding with perirenal fat. The 10 years survival rate is quite successful and we can recommend it.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 2","pages":"21-24"},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Galina Severova, Vlatko Karanfilovski, Ljupka Naunovska, Sabir Suleyman, Zaklina Sterjova Markovska, Nikola Gjorgjievski, Ana Stojanoska Severova, Pavlina Dzekova-Vidimliski, Vesna Ristovska, Irena Rambabova-Bushljetik, Ljuben Arsenkov, Gordana Petrushevska
{"title":"Association Between Membranoproliferative Glomerulonephritis and Colorectal Cancer - A Case Report.","authors":"Galina Severova, Vlatko Karanfilovski, Ljupka Naunovska, Sabir Suleyman, Zaklina Sterjova Markovska, Nikola Gjorgjievski, Ana Stojanoska Severova, Pavlina Dzekova-Vidimliski, Vesna Ristovska, Irena Rambabova-Bushljetik, Ljuben Arsenkov, Gordana Petrushevska","doi":"10.2478/prilozi-2024-0013","DOIUrl":"10.2478/prilozi-2024-0013","url":null,"abstract":"<p><p>Membranoproliferative glomerulonephritis (MPGN) is a rare glomerular disease characterized by mesangial hypercellularity and thickening of the glomerular basement membrane (GBM). MPGN can be idiopathic or associated with malignancy, systemic immune complex disorders and chronic infections. It has rarely been associated with solid organ tumors, such as lung, gastric, breast or prostate cancer. We report a patient with MPGN and coexisting colorectal carcinoma. A 48-year-old man presented with anemia, loss of weight, hypertension, and nephrotic syndrome. The renal biopsy findings were compatible with type 1 MPGN. The antineutrophilic cytoplasmic antibodies, antinuclear antibodies, anti-GBM, serologic markers of hepatitis B and hepatitis C and tumor markers were negative. After ruling out the secondary causes of MPGN, the patient was treated with pulse doses of methylprednisolone and a single dose of cyclophosphamide. However, due to the worsening anemia and rectal bleeding, a colonoscopy was performed, which established a diagnosis of adenocarcinoma of the descending colon. The patient was treated with left hemicolectomy and oral corticosteroids. Within a year after the cancer treatment, the patient experienced a complete resolution of the proteinuria and improvement of the kidney function. Although rare, MPGN can be associated with hematologic malignancies and solid organ tumors. The most common causes of secondary MPGN should be ruled out before starting specific treatment. In our patient, cancer treatment has led to a subsequent remission of the nephrotic syndrome, which indicated that this association was not coincidental but rather causal. In patients with a tumor and concomitant glomerulopathy which is suspected to be paraneoplastic in etiology, the treatment of the underlying malignancy should be prioritized.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 2","pages":"31-36"},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Boris Ivanovich Slonetskyi, Igor Volodimirovich Verbitskiy, Valeria Olegivna Kotsiubenko
{"title":"Specific Features of Diagnostic and Treatment Tactics in Patients with Crushed Abdominal Hernias Without Resection of a Hollow Organ.","authors":"Boris Ivanovich Slonetskyi, Igor Volodimirovich Verbitskiy, Valeria Olegivna Kotsiubenko","doi":"10.2478/prilozi-2024-0016","DOIUrl":"https://doi.org/10.2478/prilozi-2024-0016","url":null,"abstract":"<p><p><b>The purpose of the work</b> is to analyze the results of the use of optimized diagnostic and therapeutic tactics in patients with strangulated abdominal hernias without resection of the hollow organ. <b>Materials and methods</b>: The work is based on the analysis of the results of surgical treatment of 665 patients with strangulated abdominal hernias without resection of the hollow organ, who were divided into 2 groups depending on the features of the diagnostic and treatment tactics. Unlike the patients of group 1, the following diagnostic tactics were used in group 2: substantiated laparoscopic diagnosis of abdominal organs; mandatory biochemical assessment of hernia water; mandatory intraoperative instrumental assessment of the state of the strangulated organ; expansion of indications for the use of laparoscopic interventions and components of the comprehensive Fast track program; substantiated complex prevention of malignancy. The clinical diagnostic algorithm included laboratory, instrumental and biochemical research methods. <b>Results</b>: The use of priority diagnostic and therapeutic tactics in the patients of group 2 allowed to increase the number of laparoscopic hernioplasty by 49.34%, the number of allohernioplasty by 18.62%, among which the \"Sublay\" technique was preferred for strangulated ventral hernias. This was accompanied by a decrease in the pain syndrome on the VAS scale during the four days of observation, both during coughing and at rest, and amounted to only 2.21 ± 0.29 points on the fourth day when at rest. In addition, and after 12 months, the patients of group 2 observed a better recovery according to the SF-36 questionnaire, which amounted to 76.77±6.63 points for the assessment of the general state of health, 70.81±5.86 points for the assessment of physical functioning, 68.88±5.37 points for the assessment of role functioning due to physical condition, 68.03±5.92 points for the assessment of role functioning due to emotional state, and social activity was characterized by 72.82±5.52 points. Conclusions: 1. The proposed diagnostic and treatment tactics in the patients of group 2 with strangulated abdominal hernias without resection of a hollow organ, in contrast to patients in group 1, made it possible to increase the number of laparoscopic operations to 227 (66.37%) in contrast to 55 (17.03%) in the first group, which was accompanied by a decrease in pain syndrome on the VAS scale on the fourth day when coughing from 4.35 ± 0.38 points to 2.97 ± 0.43 points. 2. The expansion of indications for the use of laparoscopic operations in patients of group 2, in contrast to patients of group 1, led to a decrease in the postoperative complications by 10.48% and the postoperative mortality by 2.29% and was characterized by better postoperative rehabilitation according to the assessment of the patients' condition after 12 months according to the SF-36 questionnaire..</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 2","pages":"59-66"},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gazmend Amzai, Krenar Mena, Zekije Fazliu, Branko Apostoloski, Stojnela Nechofski, Alil Dervishoski, Argjent Muca, Oliver Karanfilski
{"title":"Multiple Thromboembolic Events in Young Patient with Homozygous T-786C Mutation in the Endothelial Nitric Oxide Synthase Gene (ENOS).","authors":"Gazmend Amzai, Krenar Mena, Zekije Fazliu, Branko Apostoloski, Stojnela Nechofski, Alil Dervishoski, Argjent Muca, Oliver Karanfilski","doi":"10.2478/prilozi-2024-0012","DOIUrl":"10.2478/prilozi-2024-0012","url":null,"abstract":"<p><p>Thromboembolic events are a common cause of morbidity and mortality with significant socioeconomic impact especially when young patients are affected. They are a rare medical event in young people and their clinical presentation can be mild or asymptomatic. The manifestation of symptoms and thrombotic events depends on both: the genetic mutations and the external risk factors that will induce the process. We present a case of a 34-year old young female, with three consecutive cerebrovascular insults in a period of ten years, and an acute myocardial infarction. There is a combination of gene mutations and polymorphism, with a predisposition to thromboembolic events. We emphasized the role of e-NOS (Endothelial nitric oxide synthase 786 T>C mutation) and the connection with smoking. The dual effect of the prolonged smoking and dysfunctional nitric oxide synthase in our young patient led to several thrombotic events. We discussed the various diagnostic tests and possible therapeutic and prophylactic strategies.</p>","PeriodicalId":74492,"journal":{"name":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","volume":"45 2","pages":"25-30"},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}