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1.
Caspian J Intern Med ; 10(4): 388-395, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31814936

RESUMEN

BACKGROUND: To evaluate the association between pre/post-procedural high sensitive C-reactive protein (hs-CRP) level and hs-CRP difference, and the risk of major adverse cardiovascular events (MACE) or new diffusion-weighted MRI lesions after carotid angioplasty and stenting (CAS). METHODS: In this study, conducted in 2016 in Shiraz (Iran), patients who underwent diagnostic angiography and CAS were recruited. CAS was performed with distal embolic protection device on patients with both standard and high risk of endarterectomy. Pre/post-procedural hs-CRP, and hs-CRP difference were determined by immunoenzymometric assay method. RESULTS: A total of 50 patients with diagnostic angiography and 60 patients with CAS were enrolled. No death, myocardial infarction, ischemic or hemorrhagic stroke, and need to revascularization occurred during the 30-days of the post-procedural period. Accordingly, the statistical evaluation in associating MACE and hs-CRP levels was impossible. Angioplasty was associated with higher frequency of elevated post-procedural hs-CRP in comparison to angiography (P=0.003). The higher age, symptomatic lesions, negative history of hypertension, and hs-CRP difference had significant association with the presence of new DWI lesions in univariate analysis (all P<0.05). Angioplasty of left carotid bulb and post-procedural hs-CRP levels was very close to the level of significance (P=0.06). But only left sided lesions had positive association (P=0.037) and hypertension had negative association (P=0.037) in multivariate regression analysis. There were significant association between post-procedural hs-CRP level (P=0.02) and hs-CRP difference (P=0.003), and the number of new lesions; and the hs-CRP difference and the accumulated lesion surface area (P=0.009). CONCLUSION: Post-procedural hs-CRP and hs-CRP difference may predict embolic complications of CAS.

2.
BMC Med Genet ; 20(1): 167, 2019 10 29.
Artículo en Inglés | MEDLINE | ID: mdl-31664948

RESUMEN

BACKGROUND: Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondrial DNA (mtDNA) content, which leads to malfunction of the components of the respiratory chain. MDS is classified according to the type of affected tissue; the most common type is hepatocerebral form, which is attributed to mutations in nuclear genes such as DGUOK and MPV17. These two genes encode mitochondrial proteins and play major roles in mtDNA synthesis. CASE PRESENTATION: In this investigation patients in three families affected by hepatocerebral form of MDS who were initially diagnosed with tyrosinemia underwent full clinical evaluation. Furthermore, the causative mutations were identified using next generation sequencing and were subsequently validated using sanger sequencing. The effect of the mutations on the gene expression was also studied using real-time PCR. A pathogenic heterozygous frameshift deletion mutation in DGUOK gene was identified in parents of two affected patients (c.706-707 + 2 del: p.k236 fs) presenting with jaundice, impaired fetal growth, low-birth weight, and failure to thrive who died at the age of 3 and 6 months in family I. Moreover, a novel splice site mutation in MPV17 gene (c.461 + 1G > C) was identified in a patient with jaundice, muscle weakness, and failure to thrive who died due to hepatic failure at the age of 4 months. A 5-month-old infant presenting with jaundice, dark urine, poor sucking, and feeding problems was also identified to have another novel mutation in MPV17 gene leading to stop gain mutation (c.277C > T: p.(Gln93*)). CONCLUSIONS: These patients had overlapping clinical features with tyrosinemia. MDS should be considered a differential diagnosis in patients presenting with signs and symptoms of tyrosinemia.


Asunto(s)
ADN Mitocondrial/genética , Enfermedades Mitocondriales/genética , ADN Mitocondrial/metabolismo , Femenino , Perfilación de la Expresión Génica , Humanos , Lactante , Masculino , Mutación , Linaje , Síndrome , Secuenciación del Exoma
3.
Galen Med J ; 8: e1616, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-34466537

RESUMEN

BACKGROUND: Pregnancy and postpartum are critical periods for patients with neurological complications. In this study, we aimed to evaluate the clinical characteristics and outcome of pregnant women with neurological conditions. MATERIALS AND METHODS: This cross-sectional study reviewed pregnant women with neurological signs and symptoms, who were registered in the Medical Care Monitoring Center (MCMC) database of Shiraz University of Medical Sciences 2013-15. A questionnaire was designed to record each patient's information including demographic variables, past medical history, clinical presentation, obstetric profile, and fetal/maternal outcomes. RESULTS: Totally, 332 mothers were registered in the database. The main neurological complaints in our population were headache, seizure, unilateral neurological symptoms, multiple sclerosis, neuromuscular disorder, and brain tumor. More than half of the patients (54%) experienced headache during the pregnancy and postpartum period. CONCLUSION: Evaluating the neurological disorders separately, based on the time of symptom onset indicates the importance of follow-up of mothers during peripartum. Our findings suggest that decisions for pregnancy in women with neurological disorders should be based on risks outweighing for the mother and the fetus, particularly regarding the pharmacological side effects.

4.
Iran J Neurol ; 17(1): 11-17, 2018 Jan 05.
Artículo en Inglés | MEDLINE | ID: mdl-30186554

RESUMEN

Background: We aimed to study the possible beneficial effects of omega-3 polyunsaturated fatty acids (PUFAs) in carotid artery stenting (CAS) procedure for decreasing post-procedural ischemic complications. Although previous evidence demonstrated that omega-3 PUFAs, present in fish oil, can significantly enhance platelet response to antiplatelet agents after percutaneous coronary intervention (PCI), it is unknown whether they can be used in patients undergoing CAS. Methods: The single-blind, case-control, pilot randomized trial study was planned to perform on 60 patients undergoing CAS (30 in case and 30 in control group). Patients in both groups were pretreated with dual antiplatelet therapy (aspirin 80 mg/day with a loading dose of 325 mg, and clopidogrel 75 mg/day after a loading dose of 600 mg) at least 48 hours before the CAS. 30 patients randomly received 3000 mg loading dose of omega-3 fatty acids 12 hours before the procedure and 1000 mg omega-3 capsule the day after the procedure. All subjects were planned to be visited by neurologist for any peri- and post-procedural complications immediately after the procedure and on first, seventh, and thirtieth days. Results: We ended the study after the enrollment of 18 patients because of an unexpected hemorrhagic transformation in case group. Two patients in this group developed hemorrhagic symptoms less than 12 hours after the procedure. One of the failures occurred in a patient with small vessel disease. Except these two cases, no one showed any neurological deficit symptoms in both groups. Conclusion: In patients already receiving dual antiplatelet treatment before CAS, adding omega-3 PUFAs would increase the incidence of hemorrhagic transformation.

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