Weight loss is not mandatory for exercise-induced effects on health indices in females with metabolic syndrome.

The aim of this study was to investigate the impact of moderate aerobic training on functional, anthropometric, biochemical, and health-related quality of life (HRQOL) parameters on women with metabolic syndrome (MS). Fifteen untrained women with MS performed moderate aerobic training for 15 weeks, without modifications of dietary behaviours. Functional, anthropometric, biochemical, control diet record and HRQOL parameters were assessed before and after the training. Despite body weight maintenance, the patients presented decreases in waist circumference (P = 0.001), number of MS components (P = 0.014), total cholesterol (P = 0.049), HDL cholesterol (P = 0.004), LDL cholesterol (P = 0.027), myeloperoxidase activity (P = 0.002) and thiobarbituric acid-reactive substances levels (P = 0.006). There were no differences in total energy, carbohydrate, protein and lipid intake pre- and post-training. Furthermore, improvements in the HRQOL subscales of physical functioning (P = 0.03), role-physical (P = 0.039), bodily pain (P = 0.048), general health (P = 0.046) and social functioning scoring (P = 0.011) were reported. Despite the absence of weight loss, aerobic training induced beneficial effects on functional, anthropometric, biochemical and HRQOL parameters in women with MS.

Surface trafficking of N-methyl-D-aspartate receptors: physiological and pathological perspectives.

The N-methyl-D-aspartate receptor (NMDAR) plays a crucial role in shaping the strength of synaptic connections. Over the last decades, extensive studies have defined the cellular and molecular mechanisms by which synaptic NMDARs control the maturation and plasticity of synaptic transmission, and how altered synaptic NMDAR signaling is implicated in neurodegenerative and psychiatric disorders. It is now clear that activation of synaptic or extrasynaptic NMDARs produces different signaling cascades and thus neuronal functions. Our current understanding of NMDAR surface distribution and trafficking is only emerging. Exchange of NMDARs between synaptic and extrasynaptic areas through surface diffusion is a highly dynamic and regulated process. The aim of this review is to describe the identified mechanisms that regulate surface NMDAR behaviors and discuss the impact of this new trafficking pathway on the well-established NMDAR-dependent physiological and pathophysiological processes.

Genetic counseling of families with Marfan syndrome and other disorders showing a Marfanoid body habitus.

Eight pedigrees of patients with Marfan syndrome are presented. In addition, four pedigrees of patients with conditions sometimes showing a marfanoid body habitus are described: Wagner-Stickler syndrome, multiple endocrine neoplasia type III, Ehlers-Danlos syndrome type VIA, and congenital contractural arachnodactyly type II. Emphasis is placed on the importance of genetic information in the differential diagnosis and management of patients and family members by the ophthalmologist.

Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.

A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale skin, hypoplastic heterochromia irides, heterochromia of the ocular fundi, congenital sensorineural hearing loss, and autosomal dominant heredity. This family differs from those previously reported in that none of its members showed dystopia of the inner canthi or lower puncta. In addition, four siblings had the combination of hyperopia-estropia-amblyopia, as well as ocular albinism, manifested by foveal hypoplasia and transilluminable irides. Observations on this family support prior suggestions of heterogeneity in WS.

Retinal involvement in thoracic-pelvic-phalangeal dystrophy.

A patient with typical thoracic-pelvic-phalangeal dystrophy has survived to the age of 11 years with no pulmonary problem except a single episode of pneumonia at the age of 5 years. She has no evidence of renal disease. An associated ocular lesion resembled Leber's congenital amaurosis clinically but was different on electrophysiologic testing.

Acromesomelic dwarfism: manifestations in childhood.

Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.

Genetic counseling of families with Best macular dystrophy.

We have examined 233 members of eight families with BMD. Of these, 169 were also examined with EOG. Sibships wherer greater than or equal to 80% of members were examined clinically and with EOG totaled 39. The results established both the validity and reliability of EOG testing in detecting people genetically affected with BMD. Hyperopia is established as an important manifestation of the disease. The visual prognosis of BMD is described.