Apolipoprotein C subtype distribution in type 2 diabetes mellitus

Plasma lipid levels and apolipoprotein C (apo C) composition of VLDL were investigated in a group of Type 2 diabetic patients at first attendance at the outpatient clinic and before any therapeutic intervention. Patients were distributed into two groups of 26 individuals, normo- and hyperlipidaemic, respectively, and compared with two matched control groups. Normolipidaemic diabetic patients had higher serum triglycerides, VLDL cholesterol, and lower HDL cholesterol than matched normolipidaemic control subjects. While hyperlipidaemic non-diabetic individuals showed increased apo C II and decreased apo C III-1 percentages when compared with normolipidaemic non-diabetic individuals (12.1 +/- 4.9 vs 8.5 +/- 3.2% and 44.0 +/- 6.7 vs 48.1 +/- 7.0%, respectively, mean +/- SD, both with p less than 0.05), the relative distribution of apo C III isoforms and apo C II was similar in both normo- and hyperlipidaemic diabetic patients.     

Deep brain stimulation in myoclonus-dystonia syndrome.

Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by bilateral myoclonic jerks. An 8-year-old boy presenting with early onset, medically intractable, MDS due to a mutation in the epsilon-sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia. We conclude that deep brain stimulation can be an effective and safe treatment for MDS.     

Transabdominal cerclage in the management of cervical pregnancy: three case reports

We report three cases of cervical pregnancy, managed by transabdominal uterine cerclage and cervical curettage: each one was followed by a successful pregnangy. A review of the literature is presented. Correspondence to: G. Loverro     

Alterations in the mechanical properties and composition of skin in human growth hormone transgenic mice

Growth hormone is known to stimulate connective tissue, but the degree to which it influences skin biomechanical properties is unclear. This study tested the hypothesis that human growth hormone transgene expression changes the material properties and structural composition of adult mouse skin. Fracture toughness and elastic modulus were measured on freshly dissected dorsal skin and fixed samples were analyzed histologically. Transgenics had higher elastic moduli than their sex-matched non transgenic littermates, and male transgenics demonstrated increased fracture toughness. Male transgenics also had thicker skin than controls with a selectively increased dermis. In contrast, female transgenics had thinner skin than controls due to a reduced hypodermis. Biomechanical and histological variables were strongly correlated. Significant sex differences were present in nearly all comparisons indicating a dimorphic response to growth hormone in the skin. These data demonstrate that constant low-level growth hormone expression in marrow differentially affects skin layer thickness and concomitantly alters its biomechanical properties.     

Heritability of human cranial dimensions: comparing the evolvability of different cranial regions

Quantitative craniometrical traits have been successfully incorporated into population genetic methods to provide insight into human population structure. However, little is known about the degree of genetic and non-genetic influences on the phenotypic expression of functionally based traits. Many studies have assessed the heritability of craniofacial traits, but complex patterns of correlation among traits have been disregarded. This is a pitfall as the human skull is strongly integrated. Here we reconsider the evolutionary potential of craniometric traits by assessing their heritability values as well as their patterns of genetic and phenotypic correlation using a large pedigree-structured skull series from Hallstatt (Austria). The sample includes 355 complete adult skulls that have been analysed using 3D geometric morphometric techniques. Heritability estimates for 58 cranial linear distances were computed using maximum likelihood methods. These distances were assigned to the main functional and developmental regions of the skull. Results showed that the human skull has substantial amounts of genetic variation, and a t -test showed that there are no statistically significant differences among the heritabilities of facial, neurocranial and basal dimensions. However, skull evolvability is limited by complex patterns of genetic correlation. Phenotypic and genetic patterns of correlation are consistent but do not support traditional hypotheses of integration of the human shape, showing that the classification between brachy- and dolicephalic skulls is not grounded on the genetic level. Here we support previous findings in the mouse cranium and provide empirical evidence that covariation between the maximum widths of the main developmental regions of the skull is the dominant factor of integration in the human skull.