Browsing by Author "Lackovic, Maja (23004732800)"

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy caused by missense mutations in the Notch3gene on chromosome 19. However, common vascular risk factors may additionally modify clinical expression and progression of the disease. The role of various prothrombotic factors has also been implied. We report a case of a middle-aged man with typical clinical, neuroimaging and histological features of CADASIL, but with notably prolonged activated partial thromboplastin time. Hematological investigations revealed severe clotting Factor XII deficiency. This case illustrates that the occurrence of vascular risk factors should not be overlooked in patients with CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy caused by missense mutations in the Notch3gene on chromosome 19. However, common vascular risk factors may additionally modify clinical expression and progression of the disease. The role of various prothrombotic factors has also been implied. We report a case of a middle-aged man with typical clinical, neuroimaging and histological features of CADASIL, but with notably prolonged activated partial thromboplastin time. Hematological investigations revealed severe clotting Factor XII deficiency. This case illustrates that the occurrence of vascular risk factors should not be overlooked in patients with CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited vascular disorder caused by Notch3 gene mutations. The main histopathological hallmark is granular osmiophilic material (GOM) deposited in the close vicinity of vascular smooth muscle cells (VSMCs). The authors report the first 7 ultrastructurally and genetically confirmed cases of CADASIL in Serbia. Samples of skin and sural nerve were investigated by transmission electron microscopy. GOM deposits were observed around degenerated VSMCs in all the skin biopsies examined. Sural nerve biopsies revealed severe alterations of nerve fibers, endoneurial blood vessels with GOM deposits, endoneurial fibroblasts, and perineurial myofibroblasts. Total genomic DNA was extracted from peripheral blood leukocytes, and exons 26 of the Notch3 gene were amplified by PCR and subsequently sequenced. Four different mutations in exons 2 (Cys65Tyr), 3 (Gly89Cys and Arg90Cys), and 6 (Ala319Cys), which determine the CADASIL disease, were detected among all described patients. A novel missense mutation Gly89Cys involving exon 3 was detected. Due to the difficulties in the determination of the Notch3 mutations, these data suggest that electron microscopic analysis for GOMs in dermal vessel wall provides a rapid and reliable screening method for this disease. © 2012 Informa Healthcare USA, Inc.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited vascular disorder caused by Notch3 gene mutations. The main histopathological hallmark is granular osmiophilic material (GOM) deposited in the close vicinity of vascular smooth muscle cells (VSMCs). The authors report the first 7 ultrastructurally and genetically confirmed cases of CADASIL in Serbia. Samples of skin and sural nerve were investigated by transmission electron microscopy. GOM deposits were observed around degenerated VSMCs in all the skin biopsies examined. Sural nerve biopsies revealed severe alterations of nerve fibers, endoneurial blood vessels with GOM deposits, endoneurial fibroblasts, and perineurial myofibroblasts. Total genomic DNA was extracted from peripheral blood leukocytes, and exons 26 of the Notch3 gene were amplified by PCR and subsequently sequenced. Four different mutations in exons 2 (Cys65Tyr), 3 (Gly89Cys and Arg90Cys), and 6 (Ala319Cys), which determine the CADASIL disease, were detected among all described patients. A novel missense mutation Gly89Cys involving exon 3 was detected. Due to the difficulties in the determination of the Notch3 mutations, these data suggest that electron microscopic analysis for GOMs in dermal vessel wall provides a rapid and reliable screening method for this disease. © 2012 Informa Healthcare USA, Inc.

Although the benefits of physical activity (PA) on mental well-being are well established, the vulnerability of women during pregnancy and the postpartum period poses challenges in studying the effects of PA on postpartum depression (PPD). This study investigated the association between total and domain-specific PA levels during pregnancy and postpartum depressive symptoms. The study included 105 healthy pregnant women whose PA status was evaluated by the Serbian version of the Physical Activity Questionnaire during Pregnancy (PPAQ-SRB) and their postpartum mental health by the Edinburgh Postnatal Depression Scale. Multivariable logistic regression was used to explore the independent relationship between PPAQ-SRB scores and the prediction of the PPD symptom occurrence. Our analysis revealed that the development of PPD symptomatology was associated with a lower "Total PPAQ-SRB score"(odds ratio (OR) 0.81; 95% confidence interval (CI) [0.70-0.93]; p=0.03) and "Total Activity score"(OR 0.82; 95% CI [0.71-0.93]; p=0.03) as well as lower scores of light-intensity PA (OR 0.81; 95% CI [0.69-0.96]; p=0.013), moderate-intensity PA (OR 0.82; 95% CI [0.71-0.94]; p=0.005), "Household/care"(OR 0.85; 95% CI [0.73-0.98]; p=0.028), and "Occupational"activities (OR 0.80; 95% CI [0.78-0.95]; p=0.012). Lower levels of light-to-moderate-intensity household and occupational activities appeared to increase the risk of PPD, indicating the importance of circumstances under which PA is performed. Hence, our findings indicate that PA during pregnancy can mitigate mood disorders in postpartum mothers. Moreover, reduced participation in light-to-moderate-intensity household and occupational activities seemed to increase the risk of PPD. © 2024 Marija Rovcanin et al.

Although the benefits of physical activity (PA) on mental well-being are well established, the vulnerability of women during pregnancy and the postpartum period poses challenges in studying the effects of PA on postpartum depression (PPD). This study investigated the association between total and domain-specific PA levels during pregnancy and postpartum depressive symptoms. The study included 105 healthy pregnant women whose PA status was evaluated by the Serbian version of the Physical Activity Questionnaire during Pregnancy (PPAQ-SRB) and their postpartum mental health by the Edinburgh Postnatal Depression Scale. Multivariable logistic regression was used to explore the independent relationship between PPAQ-SRB scores and the prediction of the PPD symptom occurrence. Our analysis revealed that the development of PPD symptomatology was associated with a lower "Total PPAQ-SRB score"(odds ratio (OR) 0.81; 95% confidence interval (CI) [0.70-0.93]; p=0.03) and "Total Activity score"(OR 0.82; 95% CI [0.71-0.93]; p=0.03) as well as lower scores of light-intensity PA (OR 0.81; 95% CI [0.69-0.96]; p=0.013), moderate-intensity PA (OR 0.82; 95% CI [0.71-0.94]; p=0.005), "Household/care"(OR 0.85; 95% CI [0.73-0.98]; p=0.028), and "Occupational"activities (OR 0.80; 95% CI [0.78-0.95]; p=0.012). Lower levels of light-to-moderate-intensity household and occupational activities appeared to increase the risk of PPD, indicating the importance of circumstances under which PA is performed. Hence, our findings indicate that PA during pregnancy can mitigate mood disorders in postpartum mothers. Moreover, reduced participation in light-to-moderate-intensity household and occupational activities seemed to increase the risk of PPD. © 2024 Marija Rovcanin et al.