Plasheski, Tosho
Preferred name
Plasheski, Tosho
Official Name
Plasheski, Tosho
Translated Name
Plasheski Toso
Main Affiliation
Email
tosho.plasheski@medf.ukim.edu.mk
14 results
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Item type:Publication, Point mutation C18R in pre-pro-PTH gene in brother and sister with hypoparathyroidism, Fahr’s syndrome and epilepsy(MIT Univerzitet Skopje, 2021); ; ; Biljana TodorovaIdiopathic hypoparathyreoidism may be sporadic or familial, and may occur as an isolated defect or as a component of a more widespread disorder, such as autoimmune polyglandular failure type 1 or various developmental abnormalities. Familial isolated hypoparathyreoidism (FIH) can result from several types of genetic alterations, including, mutations in the calcium-sensing receptor (CASR) gene, glial cells missing-2 (GCM-2), G protein a11 (GNA11), or in the PTH gene itself. X-linked recessive hypoparathyroidism, a rare congenital form of hypoparathyroidism has also been described. Here, we report a family, brother and sister, with hypoparathyroidism, Fahr’s syndrome and epilepsy diagnosed in early childhood. The genetic testing proved a rare, point mutation in the PTH gene (C18R) with autosomal dominant inheritance. This is the first reported family from North Macedonia with FIH due to mutation in the PTH gene. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Case Report of Latent Autoimmune Diabetes in Adults - misdiagnosed as type 2 Diabetes Mellitus(2022-12); ; ; Introduction: Latent Autoimmune Diabetes in Adults (LADA) is a form of autoimmune mediated diabetes in adults and a hybrid form of diabetes with features of both type 1 (T1DM) and type 2 diabetes (T2DM). The diagnosis of LADA according to Immunology of Diabetes Society is based on three features: age over 35, Presence at least one of four autoantibodies to pancreatic islet cell antigens and insulin independance at least 6 months after diagnosis. Unfortunately, patients with LADA are often misdiagnosed as having T2DM, shows a sustained poor glycemic control over time and significantly increased risk of microvascular complications. CASE REPORT: We present a fimale patient aged 52. She was diagnosed as T2DM when she was 36. Her past history includes: Rheumatoid Arthritis, family history-son and father diagnosed with type T1DM at the age of 26 and 33 years, respectively. She was treated with basal insulin therapy for seven years and due to poor glycaemic control the therapy was intensified. Several months before the admittance toour hospital she had have a history of frequent urination and hypoglicemic episodes followed by loss of consciousness. Laboratory revealed: HbA1c- 8.03% ; C- peptide 0,314ng/ml (0,53-2,9 ng/ml. The rest of the laboratory was normal. Ophthalmology exam stressed non-proliferative retinopathy. Immunologic analyses revealed positive Glutamic Acid Decarboxylase Autoantibodies (GADA) 65 and Insulin Autoantibodies (IAA). DISSCUSION: Our patient was diagnosed and treated as T2D for 15 years. The susspision for LADA was raised during her last exam. In our patient, there were two antibodies found out of four-GADA65 and IAA. She was already on insulin therapy and there was no need major change of the insulin therapy. CONCULION: Prevalence of LADA is increased in the patients with family history of T1DM. The early recognition of LADA is of utmost importance. Recognizing LADA at early stage will lead to early initiation of insulin, better glycemic control as well as the preservation of residual beta-cell function in adult-onset autoimmune diabetes. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, LEFT MAIN CORONARY ARTRY STENTING IN PATIENTS WITH CHRONIC KIDNEY DISEASE - A LIFESAVING PROCEDURE(MIT University Skopje, 2022-10); ; Background: Chronic kidney disease (CKD) is one of the most important factors for adverse outcomes in patients with coronary artery disease (CAD) undergoing percutaneous coronary intervention. These patients have poorer outcomes in comparison with patients without CKD. The strategy for the best revascularization technic in patients with CKD and coronary artery disease is still unknown because these patients are usually excluded from most clinical trials, especially in patients with moderate or severe CKD. Aim: This case report aims to show that percutaneous coronary intervention is a necessary and life-saving procedure in a critically ill patient with CKD despite the risk of complications and worsening renal function. Case Report: We present a 76 years patient with a medical history of CKD stage 4, Diabetes Mellitus type 2 on insulin therapy, and hypertension, one year ago she got a drug-eluted stent on the left anterior descendent (LAD) coronary artery, after which she has developed contrast-induced nephropathy and she underwent on hemodialysis after which kidney function stabilized. She was diagnosed with heart failure with reduced EF (23%). This patient came to the emergency department with pulmonary edema and subacute myocardial infarction. She was medically stabilized and underwent delayed percutaneous coronary intervention (PCI) with stenting to LM/pLAD after which deterioration of kidney function was observed (Creatinin456.8..498..701umol/L, Urea 22.6..23.4..27mmol/L). She underwent hemodialysis after which previously kidney function was obtained and she was dismissed in good health. Conclusion: PCI and Left main stenting is a lifesaving procedure in patients with CKD. A multidisciplinary approach and an experienced invasive cardiologist are of crucial importance for a good outcome in these patients. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, ENDOMETRIAL PATHOLOGICAL CHANGES IN PERIMENOPAUSE AND POSTEMENOPAUSE - ASSOCIATION WITH SOME ANAMNESTIC AND ULTRASONOGRAPHIC PARAMETERS(Macedonian Association of Anatomists and Morphologists, 2022); ; ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A FIRST REPORT OF A GERMLINE FRAMESHIFT C.332DUP MUTATION IN MEN1 GENE IN A PATIENT WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 1(MIT University Skopje, 2022-03); ; ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Case Report of Sporadic Type of Medullary Thyroid Carcinoma(Department of Anaesthesia and Reanimation, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, R.N. Macedonia, 2022-06); ; ; Background: Medullary thyroid carcinoma (MTC) constitutes around 5% of all thyroid cancers and it usually arises from parafollicular C-cells. Both sporadic and familial forms are seen. The prognosis of MTC is worse in comparison to other differentiated thyroid cancers. Hereby, we present the case report of one patient with sporadic MTC. Case Report: We present a 67-years-old male with presence of one dominant hypoechoic nodule in the right lobe (4x3x5cm) on thyroid ultrasonography. Fine-needle aspiration biopsy (FNAB) of the right lobe was done twice in a 10 months period, with no malign cells discovered. Three months after the second FNAB, scan with Technicium 99 was done, which showed ‘cold zone’ in the middle of the right thyroid lobe. Computer Tomography (CT) of the neck revealed cystic lesion in the same thyroid lobe. The patient underwent right lobectomy. The final histopathological finding was MTC: pTNM = pT1 pNx pMx G2 Cx. After getting the results, additional surgery was done and this time the total right lobe thyroidectomy was performed. Conclusion: MTC can occur as sporadic, as well as genetic disease. We showed that this case of MTC was a sporadic type on account of absence of family history, normal plasma and urinary catecholamine levels, negative genetic testing for mutations in RET, normal CT scan of abdomen and normal Cromogranin - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A patient with partial androgen insensitivity syndrome(PAIS) due to a mosaic de novo prmoter mutation ( C.-547>T) in the androgen receptor (AR) gene(2022-10); ; ; Predrag Noveski - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Testicular size in our male population(Македонско лекарско друштво = Macedonian medical association, 1998); ; Testicular size was measured in 800 healthy males ages 7 through 42. Testicular volumes were estimated by Prader's orchidometer. At chronological age 7-11 years, the normal mean testicular volume (MTV) ranged from 1.30 to 4.82cm³, and in 11-13 year old children 7.46 to 8.95cm³. It could mean that in our male population, puberty commences at 11-13 years of age. After 17 years of age, MTV was relatively stable and ranged from 18.25 to ±6,27cm³. Orchidometry could be useful in anthropological investigations and especially in routine clinical practice for evaluating the development of male puberty and andrological disorders. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, SARS-COV-2 INFECTION: CARDIAL AND MULTI-ORGAN INVOLVEMENT(Department of Anaesthesia and Reanimation, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, R.N. Macedonia, 2022-12); SARS-COV-2 is a single-strain RNA virus that attacks primarily the respiratory system. The second most commonly affected system is the cardiovascular. Often it attacks multiple organ systems causing multi-organ failure. Atrial fibrillation (AF) is the most common sustained supraventricular arrhythmia in acute settings of COVID-19 infection and is associated to more complications and mortality rates. The presence of AF in patients with COVID-19 pneumonia should be managed with increased attention to prevent adverse outcomes. COVID-19 may be a cause of multiple organ damage in some infected patients. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, ANDROGEN INSENSITIVITY SYNDROME DUE TO NON-CODING VARIATION IN THE ANDROGEN RECEPTOR GENE: REVIEW OF THE LITERATURE AND CASE REPORT OF A PATIENT WITH MOSAIC C.-547c>T variant(De Gruyter, 2023); ; Plaseska-Karanfilska, DijanaSexual development (SD) is a complex process with strict spatiotemporal regulation of gene expression. Despite advancements in molecular diagnostics, disorders of sexual development (DSD) have a diagnostic rate of ∼50%. Androgen insensitivity syndrome (AIS) represents the most common form of 46,XY DSD, with a spectrum of defects in androgen action. Considering the importance of very strict regulation of the SD, it is reasonable to assume that the genetic cause for proportion of the DSD lies in the non-coding part of the genome that regulates proper gene functioning. Here we present a patient with partial AIS (PAIS) due to a mosaic de novo c.-547C>T pathogenic variant in the 5’UTR of androgen receptor (AR) gene. The same mutation was previously described as inherited, in two unrelated patients with complete AIS (CAIS). Thus, our case further confirms the previous findings that variable gene expressivity could be attributed to mosaicism. Mutations in 5’UTR could create new upstream open reading frames (uORFs) or could disrupt the existing one. A recent systematic genome-wide study identified AR as a member of a subset of genes where modifications of uORFs represents an important disease mechanism. Only a small number of studies are reporting non-coding mutations in the AR gene and our case emphasizes the importance of molecular testing of the entire AR locus in AIS patients. The introduction of new methods for comprehensive molecular testing in routine genetic diagnosis, accompanied with new tools for in sillico analysis could improve the genetic diagnosis of AIS, and DSD in general.