novel c.4822>T mutation on SPG11 in an Iranian patient marked by hereditary spastic paraparesis and skeletal deformity: an incidental finding or a true association

Hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. We report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. Neurological examination showed that he had proximal lower limbs weakness with a positive Gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle was ting, bilateral horizontal nystagmus [direction change], and positive Romberg sign. A novel mutation in SPG11/spatacsin was detected through genetic analysis. Magnetic resonance imaging showed normal whole spine and brain anatomy

Association of Major Coronary Risk Factors and Gender.

Aims: The aim of this study is to compare major risk factors in Coronary Artery Disease patients with significant atherosclerotic lesions in both genders. Study Design: Cross-Sectional study. Place and Duration of Study: From Aug 2012 to Dec 2013, 299 consecutive patients who underwent angiography at the coronary angiography laboratory in Ghaem hospital were enrolled in this study. Methodology: Demographic data was collected by an interviewer based on a checklist. Moreover, a member of our research group examined patients for weight, height, and blood pressure. For each patient a blood sample was taken and angiography was done by an expert. Statistical analysis was performed by SPSS version 11.5, using descriptive statistics, one-way ANOVA, and non-parametric equivalent, Kruskal- Wallis. p<0.05 was considered as statistically significant. Results: Participants in this study were Iranian and 52.8% were female. The females were older than males (mean age 59±10.14 vs 58±12.4); and the majority of them were married and lived in urban areas. Among 169 patients that were recruited in the study, 95 (55.6%) had a positive history of hypertension (HTN), 77 (46.4%) hyperlipidemia, and 55 (32.5%) type 2 Diabetes Mellitus (T2DM). The observed differences in these parameters between two genders were significant (P<0.001, P=0.001 and P=0.001), respectively. Among the participants, 40 (46.4%) were smokers (at present or in the past). Conclusion: Our results show that the prevalence of HLP, HTN and T2DM among Iranian women who belong to the CAD patients’ population is more than men.