Corticobasal syndrome: neuroimaging and neurophysiological advances

Corticobasal degeneration (CBD) is a neurodegenerative condition characterized by 4R-tau protein deposition in several brain regions that clinically manifests itself as a heterogeneous atypical parkinsonism typically expressing in the adulthood. The prototypical clinical phenotype of CBD is corticobasal syndrome (CBS). Important insights into the pathophysiological mechanisms underlying motor and higher cortical symptoms in CBS have been gained by using advanced neuroimaging and neurophysiological techniques. Structural and functional neuroimaging studies often showed asymmetric cortical and subcortical abnormalities, mainly involving perirolandic and parietal regions and basal ganglia structures. Neurophysiological investigations including electroencephalography and somatosensory evoked potentials provided useful information on the origin of myoclonus and on cortical sensory loss. Transcranial magnetic stimulation demonstrated heterogeneous and asymmetric changes in the excitability and plasticity of primary motor cortex and abnormal hemispheric connectivity. Neuroimaging and neurophysiological abnormalities in multiple brain areas reflect the asymmetric neurodegeneration, leading to the asymmetric motor and higher cortical symptoms in CBS. This article is protected by copyright. All rights reserved

Klippel-Feil syndrome. When using fiberoptic bronchoscopy guide, a case report

Klippel-Feil syndrome is a rare disease with congenital musculoskeletal condition characterized by faulty segmentation of cervical vertebrae and consists of cervical vertebra fusions with limitation of head movements, short neck and low posterior hairline. In several cases the syndrome is associated with cardiovascular malformations. Patients affected by Klippel-Feil syndrome could be an anesthetic challenge, not only during cardiac surgery. We are presenting a case of Klippel-Feil Syndrome in an adult patient, who was operated on for a pulmonary valve insufficiency in a previously corrected Tetralogy of Fallot Syndrome. We are going to discuss the features of this rare syndrome

The Metabolic Syndrome among Postmenopausal Women in Gorgan

In this study, we aimed to assess levels of serum 25-hydroxyvitamin D in relation to metabolic syndrome among postmenopausal women in Gorgan. The study group included 100 postmenopausal women who were referred to the different Health Centers in Gorgan. Body mass index, waist circumference, Hip, waist to hip ratio, diastolic blood pressure, triglyceride, fasting blood glucose and 25-hydroxyvitamin D levels were significantly higher in postmenopausal women with metabolic syndrome, but HDL-cholesterol was lower. Prevalence of the metabolic syndrome was 31%. There were significant differences in 25-hydroxy vitamin D of postmenopausal women with and without vitamin D deficiency. Prevalence of the vitamin D deficiency in postmenopausal women was 30%. There were significant differences in 25-hydroxy vitamin D of postmenopausal women with and without vitamin D deficiency who had metabolic syndrome. Our results show that postmenopausal status might be a predictor of metabolic syndrome in this area. Our findings suggested that vitamin D levels have no association with metabolic syndrome. There were no significant differences in vitamin D levels in postmenopausal women with and without metabolic syndrome. Vitamin D deficiency is not associated with the metabolic syndrome

The Role of Higher Protein Diets in the Regulation of Mood and Sleep in Patients with Metabolic Syndrome

Metabolic Syndrome is becoming a more prevalent health issue within the United States, currently affecting 22% of adults (Capuron et al., 2008). Several factors contribute to the diagnosis of Metabolic Syndrome, including obesity, high levels of triglycerides, elevated blood pressure, and low high-density lipoprotein cholesterol. Metabolic Syndrome puts those who have it at an increased risk for numerous diseases, such as type 2 diabetes, cardiovascular disease, and cancer (Jennings et al., 2007). Several studies have shown that Metabolic Syndrome plays a negative role in sleep and mood of those with the disease. Individuals with Metabolic Syndrome often have poor sleep quality, which could contribute to worsening of the risk factors associated with the disease (Hung et. al 2013). Metabolic Syndrome has also been linked to obstructive sleep apnea and is prevalent in those with the disease (Parish et al., 2007). There is also evidence that short sleep duration and poor sleep quality are associated with obesity, one of the risk factors for Metabolic Syndrome (Jennings et al., 2007)

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutationinexon2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome

The metabolic syndrome in type 2 diabetic subjects in Gorgan, Iran

Objective: To assess the prevalence of the metabolic syndrome in subjects diagnosed with Type 2 diabetes in Gorgan, Iran.Methods: Data were collected from 200 subjects with Type 2 diabetes mellitus and they were categorized aswith or without the metabolic syndrome. Metabolic syndrome was diagnosed using Adult Treatment Panel-III(ATP-III) guidelines.Results: The overall metabolic syndrome prevalence was 51.50%. The mean age of all the subjects was53.65±9.50 years. There were 122 females and 78 males of whom 65 females and 38 males had the metabolic syndrome. The mean uration of diabetes was 7.70±1.29 years. Mean triglycerides were 185.15±56.63 mg/dl,and fasting blood glucose 153 ±19.6 mg/dl. These levels were significantly higher in the subjects with type-2diabetes with metabolic syndrome, but the mean HDL-cholesterol was 37.96±5.09 mg/dl and this was lower (p<0.001). Female and male subjects with metabolic syndrome had significantly longer (except HDL-cholesterol)duration of diabetes, higher Triglyceride, and fasting blood glucose levels (p < 0.001, p < 0.05).Conclusion: This study showed a high prevalence of the metabolic syndrome in subjects with type 2 diabetes. Females were more affected than males