Endoplasmic Reticulum Chaperones Are Potential Active Factors in Thyroid Tumorigenesis.

The study aimed to evaluate the proteomic changes in benign follicular adenoma versus malignant follicular variant of papillary thyroid carcinoma. Tumor and nontumor adjacent samples were analyzed by liquid nanochromatography mass spectrometry, and protein abundance was evaluated by label-free quantification. Western blotting and quantitative real-time polymerase chain reaction were used to validate and complement the mass spectrometry data.

Growth hormone deficiency in adults impacts left ventricular mechanics: a two-dimensional speckle-tracking study.

Background: Growth hormone deficiency (GHD) in adults is associated with increased cardiovascular events, but detailed assessment of cardiac and vascular function is lacking. Thus we assessed cardiac, arterial, and endothelial functions, using conventional and speckle-tracking echocardiography, in adults with GHD compared with controls with similar cardiovascular risk.

Methods: Fifty-two patients with GHD (47 ± 16 years; 34 men) and no cardiovascular disease or diabetes were enrolled prospectively and compared with 50 age- and sex-matched controls.

Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

Wilson's disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment factors on phenotypic expression among the affected patients. We conducted clinical and genetic investigations to perform genotype-phenotype correlation in two large families living in a socio-culturally isolated community with the highest prevalence of Wilson's disease ever reported of 1 ∶ 1130.

Blood-brain barrier for human growth hormone and insulin-like growth factor-I.

There is a blood-brain barrier (BBB) for GH. A certain, unknown amount of GH passes the BBB, acts on the neuronal GH receptors and directly influences the brain mechanisms serving the feedback and ultradian secretion of GH. The high density of GH receptors in the choroid plexus suggests a possible receptor-mediated transcytosis transport.

The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family.

We report two siblings--a 5 1/2 year old female and her 4 1/2 year old brother, both presenting the classical clinical findings of oculo-dento-digital dysplasia (ODD). 1. Digital anomalies: bilateral complete cutaneous syndactyly of fingers IV-V (III-IV-V at the left hand of the boy) and camptodactyly IV.

An unclassifiable type of spondylo-peripheral epiphyseal dysplasia associated with 21 trisomy.

We present an unusual type of skeletal dysplasia in a 6 1/2 year-old female child with Down syndrome due to classical 21 trisomy. Differential diagnosis with the pseudoachrondroplastic forms of spondyloepiphyseal dysplasia shows that the epiphyseal changes in the present patient are unique and do not allow to classify the skeletal changes of the present patient in this group of disorders.

Vasotocin effects in depressive patients with eating disorders.

Since arginine vasotocin (AVT) effects are mediated by serotonin, which was involved in the production of eating disorders, disorders which show many common mechanisms with the depressive disorders, and since AVT was used as treatment of depressive disorders, we investigated the AVT effects in a double-blind study with patients with eating disorders. We compared AVT effects on 15 patients with eating disorders to 18 patients with eating disorders which received tricyclic antidepressants or cognitive-behavioral psychotherapy. The severity of depression was assessed by means of the Hamilton Depression Scale and of Beck's Depression Inventory, before and after three months therapy.