Turner syndrome is the most common genetic disorder in females. In most subjects, with a normal physical appearance at birth, the diagnosis is suspected long after birth because of short stature, delayed puberty, primary or secondary amenorrhea or infertility. Abnormalities of liver function tests are reported in literature, with a prevalence ranging from 20% to 80%. In most subjects liver diseases are self-limiting, associated with obesity, hormonal therapy and autoimmune diseases. An association between Turner syndrome and cryptogenic liver disease has been reported. Abnormalities of liver function tests could be the unique sign of Turner syndrome in subjects with normal phenotypes. The histological picture of "fetal liver-like architecture" and "ductopenia" is of fundamental importance for the diagnosis of chromosomopathy.Review the causes of hypertransaminasemia by focusing on more rare as metabolic and genetic diseases.We evaluated a 10 year old girl with a normal phenotype affected by chronic hypertransaminasemia and cholestasis, in whom a needle liver biopsy was performed after the most common causes of hypertransaminasemia were excluded.Liver histological evaluation revealed a smoldering colangiopathy with mild ductopenia and a fetal liver-like architecture. Turner syndrome, suspected on the basis of this histological picture, was confirmed by a pelvic ultrasound and a chromosome analysis.The histological features of "fetal liver-like architecture" and "ductopenia" represent an evocative sign that could indicate the diagnostic suspicion of Turner syndrome in a subject lacking in signs or symptoms of this disease. It is important to perform a pelvic ultrasound and an endocrinological evaluation in all females with chronic asymptomatic hypertransaminasemia even though they have normal phenotypes.

Worldwide, 480-520 million people are chronically infected with hepatitis B or C virus. In addition to their effects in the liver, chronic hepatitis viral infections may have serious extra hepatic manifestations. These manifestations have been more widely studied in chronic HCV infection, where they are more frequently described, but they have been also reported chronic HBV infection.Among those, of great interest are the ocular manifestations caused by the HBV or HCV infection or induced by chronic hepatitis therapy. These we attempted to review.A PubMed search was conducted using the terms hepatitis, ocular, eye.This article describes the ocular symptoms related to HBV and HCV hepatitis such as xerophthalmia, Mooren's ulcer and retinopathy as well as other rare manifestations caused by either the infection or the therapy.The ocular manifestations of HCV infections best supported by the literature include a dry eye syndrome similar to Sjögren's syndrome, and ischemic retinopathy caused by either HCV-induced vasculitis or treatment with interferon. There are no serious ocular manifestations of HBV infection other than dry eye syndrome. Special consideration should be held for possible connection between HBV vaccine and uveitis.

Chronic use of multi-dose eye drops containing preservatives, such as it may happen in patients affected by primary open angle glaucoma, often results in a damage of the ocular surface due to the inherent toxicity of preservatives, that with time may lead to a lacrimal dysfunction syndrome and eye dryness.This double blind, randomized, pilot study was conducted on 38 glaucomatous patients suffering from dry eye induced by long-term use of eye drops preserved with BAK.Treatment of these patients with a food supplement containing an association of forskolin, rutin and vitamins B1 and B2 for 30 days increased significantly their OPI values and improved the symptoms of dry eye with respect to a placebo-treated control group.The association of forskolin, rutin and vitamins B1 and B2 appears to be protective for the ocular surface, contributing to restore a normal equilibrium of the tear film in those subjects in which toxic agents such as BAK had determined alterations of its homeostasis.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder, which is uncommon anomaly to recurrent gastrointestinal bleeding. Although there are several forms of therapy ranging from local therapy to operations or drug therapy, there is a lack of more effective treatment for the disease. In this report, we presented a Chinese patient with recurrent melena due to gastric angiodysplasia in HHT treated successfully with thalidomide.

To evaluate diagnosis and treatment experience for adrenal ganglioneuroma and provide data for clinical surgery.Analysis clinical feature and iconography and endocrine examination and clinical data of 29-cases adrenal ganglioneuroma in our Hospital.Back discomfort in 10 cases and convulsivum dizziness in 6-cases (hypertension in 2 cases), central obesity in 1 case. 12-cases were found by physical examination. 9-cases were diagnosed as adrenal ganglioneuroma and others were diagnosed as adrenal tumor. After operation, all of the cases were diagnosed as adrenal ganglioneuroma by pathology. Beside one patient were still dizzy with BP (blood pressure): 150/95 mmHg, all of patients completly recovered.For diagnosis on adrenal ganglioneuroma, we should depend on iconography and pathology. The operation is main method and most of patients can be cured.

The purpose of this study is to determine the role of relaxin knowdown by siRNA transfection in cellular growth and invasion of osteosarcoma MG-63 cells, and discusses the molecular mechanisms of this action.The expression of relaxin in MG-63 cell was examined by western blot or RT-PCR. To evaluate the biological role of relaxin, proliferation assay (MTT) and invasion assay (BD Matrigel™), apoptosis assay (TUNEL and ELISA) and cell cycle analysis (flow cytometer) were performed after silencing relaxin using siRNA. MMP-9 expressions were analyzed using RT-PCR, western blot and zymography after silencing relaxin.Results showed that the downregulation of relaxin expression by siRNA in human osteosarcoma MG-63 cells significantly inhibited cell proliferation and invasion in vitro. Furthermore, relaxin knockdown led to cell arrest in the G1/G0 phase of the cell cycle, and eventual apoptosis enhancement in MG-63 cells. We provide evidence in our cell model that the relaxin siRNA down-regulated the expression of MMP-9 and the MMP-9 activity, suggesting that relaxin may promote the proliferation, invasion and metastasis of osteosarcoma cells by regulating the expression of MMP-9 and facilitating ECM degradation.Therefore, siRNA-directed knockdown of relaxin may represent a viable clinical therapy for osteosarcoma.

A number of putative roles, including the modulation of tumor growth, neovascularization, metastasis and oncogenic progression, have been correlated to relaxin-2 overexpression. However, the clinical significance of relaxin-2 expression in hepatocellular carcinoma (HCC) remains unclear. The aim of this study was to investigate the expression of relaxin-2 in HCC and determine its correlation with tumor progression and prognosis.180 HCC patients who had undergone curative liver resection were selected and immunohistochemistry was performed to analyze relaxin-2 expression in the respective tumors.Immunohistochemistry confirmed relaxin-2 overexpression in HCC tissues compared with their adjacent nonneoplastic tissues (p < 0.01). Additionally, immunostaining showed more relaxin-2 positive cells in the higher tumor grade (III) than in the lower tumor stage (I, II; p = 0.026). Moreover, HCC patients with high relaxin-2 expression were significantly associated with lower 5-year overall survival (p < 0.01) and lower 5-year disease-free survival (p < 0.01), respectively. Furthermore, immunostaining showed more relaxin-2 positive cells in the tumor recurrence (ETR) patients than non-ETR patients (p = 0.001). The Cox proportional hazards model further showed that relaxin-2 was an independent poor prognostic factor for both 5-year disease-free survival (hazards ratio [HR] = 1.872, 95% confidence interval [CI] = 1.18-5.146, p = 0.023) and 5-year overall survival (HR = 3.637, CI = 1.443-7.15, p = 0.001) in HCC.Our data suggest for the first time that the overexpression of relaxin-2 protein in HCC tissues is of predictive value on tumor progression and poor prognosis.

Postsurgical patients with head and neck cancer could have a high rate of ambulatory complications. The aim was to investigate whether oral ambulatory nutrition of head and neck cancer patients with recent weight loss, using two different doses of an omega 3 fatty acids and arginine enhanced diets could improve nutritional parameters.At Hospital discharge post surgical head and neck cancer patients (n=37) were asked to consume two or three cans per day of a designed omega 3 fatty acid and arginine enhanced supplement for a twelve week period.Albumin, prealbumin, transferrin and lymphocytes levels improved in both groups. Weight, fat mass and fat free mass improved during supplementation in group II (3 bricks per day). No differences were detected in anthropometric parameters in group I. Gastrointestinal tolerance with both formulas was good, no episodes were reported. There are no differences between both formulas on postsurgical complications rates.Omega 3 and arginine enhanced formulas improved blood protein concentrations and lymphocyte levels in ambulatory postoperative head and neck cancer patients. A high dose of arginine and omega 3 fatty acids formula improved weight, too.

Hypericum (H.) perforatum, popularly called St. John's Wort has been used traditionally for the treatment of anxiety, depression and as a nerve tonic. Large amount of clinical and animal experimental data demonstrate that H. perforatum acts by biochemical mechanisms similar to the tricyclic antidepressants or serotonin reuptake inhibitors. However, its efficacy in comparison to standard antidepressant drugs is not well studied. The present study evaluated H. perfortum extract in animal models of depression compared to clinically used antidepressants.The effects of standardized extract of H. perforatum was compared with standard antidepressants using animal models of depression such as forced swim test (FST), yohimbine induced lethality test, pnetylenetetrazole (PTZ) induced convulsion and locomotor activity tests. Different doses of the plant extract and standard drugs were administered to rats or mice intraperitoneally (i.p).In the FST, H. perforatum extract (30-90 mg/kg i.p.) caused a dose dependent reduction in immobility time in rats with maximal effect being 53% at 90 mg/kg. This effect was reversed at higher doses (100 mg/kg) showing a U-shaped dose response curve. Fluoxetine and imipramine (30-70 mg/kg i.p.) produced similar reduction in the immobility time in rats. Venlafaxine exhibited weak antidepressant effect. H. perforatum extract (30-100 mg/kg i.p.), dothiepin (10-50 mg/kg i.p.), fluoxetine (30-60 mg/kg i.p.) and venlafaxine (20-40 mg/kg i.p.) potentiated yohimbine induced lethality. PTZ induced toxicity was also enhanced with these agents. In the locomotor activity test H. perforatum decreased the locomotor counts of mice similar to standard antidepressants.H. perforatum has antidepressant properties similar to standard antidepressants. The antidepressant profile of H. perforatum is closely related to the selective serotonin reuptake inhibitors class of antidepressants.