Medicine
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Extensive coronary calcification without significant stenosis, described as calcific coronary artery disease (CCAD) may cause abnormal myocardial perfusion and hence generalized ischemia. There is a discrepancy in the expression pattern of CCAD compared to the well-known atherosclerotic disease which raises questions about the exact pathophysiology of coronary calcification and whether there is a genetic etiology for it. In this pilot study we studied 3 candidate genes, ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1), ATP Binding Cassette Subfamily C Member 6 (ABCC6), and 5'-Nucleotidase Ecto (NT5E) involved in pyrophosphate (PPi) and inorganic phosphate (Pi) metabolism, which may predispose to coronary arterial or valvular calcification. ⋯ However, segregation in the families must first be performed to ascertain any damaging effect of these variants we have found. We report 4 new genetic variants potentially related to coronary calcification, through the disturbed Pi and PPi metabolism. The search for direct causative genetic variants in coronary artery and aortic valve calcification must be broadened with other genes particularly those involved with Pi and PPi metabolism.
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Case Reports
Obstructive hydrocephalus associated with spontaneous dural arteriovenous fistula: A case report.
Dural arteriovenous fistulae (DAVF) are vascular disorders depicted with direct interconnection between dural arteries and cerebral venous sinuses and/or cortical veins. Only a hand full of cases have been reported in literature. DAVF obstructing the 3rd ventricle and quadrigeminal cistern resulting in hydrocephalus is very rare. ⋯ Adequate knowledge on the vascular anatomy is very crucial in managing DAVF.
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Comparative Study
The value of diffusion tensor imaging for differentiating autism spectrum disorder with language delay from developmental language disorder among toddlers.
Impaired language function is frequently observed as an initial sign in people with autism spectrum disorder (ASD). However, clinically, the early stages of ASD are difficult to distinguish from those of developmental language disorder (DLD). ⋯ DTI parameters of arcuate fasciculus were useful for differentiating ASD with language delay from DLD among toddlers. DTI has the potential to provide an objective and effective method for aiding early diagnosis, early intervention and improving long-term outcomes of ASD.
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The cardiovascular disease (CVD) has been identified as a leading cause of premature mortality among middle-aged and elderly individuals globally. Inflammation plays an important role in aging and age-related diseases, such as atherosclerosis and CVD. White blood cell (WBC) count is an inexpensive, simple biomarker of systemic inflammations and includes several cell subtype counts, such as neutrophils, monocytes, lymphocytes, basophils, and eosinophils. ⋯ In the multiple regression analysis, the independent contribution of monocyte count to Framingham 10-year CVD risk was 0.217 ± 0.092 (P = .018) after adjusting for confounding variables. We found that of the various WBCs, monocyte count is an independent predictor of CVD risk. Further larger-scale prospective cohort studies are warranted to determine these associations in the future.
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Case Reports
Topiramate precipitating a manic episode in a bipolar patient comorbid with binge eating disorder: A case report.
Topiramate is a novel antiepileptic drug that is used as an adjunctive in the treatment of partial and secondary generalized seizures. In recent years, psychiatrists have paid more attention to topiramate as a mood stabilizer and as an agent for treating eating disorders, especially in binge eating disorder (BED) and bulimia nervosa. ⋯ These findings indicated that patients with a history of bipolar disorder and comorbid BED have a tendency to develop manic episode when taking topiramate. Careful monitoring of mood alterations after topiramate supplement to mood stabilizers is necessary in this population.