A Decreased Response to Resistin in Mononuclear Leukocytes Contributes to Oxidative Stress in Nonalcoholic Fatty Liver Disease

Digestive Diseases and Sciences - Deregulation of immune response and oxidative stress contribute to nonalcoholic fatty liver disease (NAFLD) pathogenesis. Resistin is a physiological modulator of...     

Perianal disease of tuberculous origin

PURPOSE: A case of anal tuberculosis in an otherwise asymptomatic patient with bleeding anal ulcers is presented. The clinical features of this entity and the problems in differential diagnosis between anal infectious vs. inflammatory diseases are discussed. METHODS: The management and outcome of the case of an adult patient who presented with perianal ulcers is described. RESULTS: On a three-drug antituberculous regimen, symptoms abated, radiographic infiltrates improved, and perianal ulcers healed. CONCLUSION: Anal tuberculosis is an extremely rare disease. A tuberculous origin must be considered when the cause of perianal ulcers is unclear to avoid undesirable delays in the diagnosis and treatment of this disease.     

Ursodeoxycholic acid in the treatment of cholestasis of pregnancy: a randomized double-blind study controlled with placebo

Backgrounds/Aims: Intense pruritus and the risk of stillbirths and premature deliveries justify the search for an effective pharmacologic treatment of intrahepatic cholestasis of pregnancy. This study was designed to test the efficacy of ursodeoxycholic acid in maternal pruritus, the biochemical abnormalities and the outcome of pregnancy, in patients with intrahepatic cholestasis of pregnancy of early onset.Methods: Pregnant patients hospitalized in a secondary case-referral center with intense pruritus and abnormal serum levels of bile salts and aminotransferases, detected before week 33 of pregnancy, were randomly assigned to receive ursodeoxycholic acid, 1 g per day orally, or an identical placebo, until delivery, in a double-blind study. A 3-week trial period was chosen to compare drug and placebo effects. The follow-up was extended for 3 months after delivery.Results: Twenty-four patients entered the trial; eight had deliveries before 2 weeks of treatment and one dropped out. The study was then completed in 15 patients: eight received ursodeoxycholic acid and seven placebo. No adverse effects were detected in the mother or in their babies. After 3 week of treatment, patients receiving ursodeoxycholic acid (mean daily) dose 16 mg/kg body weight) had a significant improvement in pruritus (p<0.02), In serum bilirubin (0.36±0.19 mg/dl (mean±SD) versus 0.95±0.48 in patients receiving placebo, p<0.01), in aspartate aminostransferase (52±42 IU/l vs 98±44, p<0.05) and in alanine aminotransferase (54±50 IU/l vs 229±154, p<0.01); serum total bile salts also tended to be lower in patients receiving ursodeoxycholic acid (26.3±33.7 μmol/l vs 55.0±44.8, p N.S.). Deliveries occurred at or near term in all mothers who received ursodeoxycholic acid (mean week of pregnancy: 38), while they occurred before week 36 of pregnancy in five patients who received placebo, including one stillbirth. All babies born alive had birth weights adequate for gestational age and they were thriving normally 3 months after delivery.Conclusions: Ursodeoxycholic acid is effective and safe in patients with intrahepatic cholestasis of pregnancy of early onset, attenuating pruritus and correcting some biochemical abnormalities in the mothers. Relevant aspects of fetal outcome were also improved in patients receiving ursodeoxycholic acid compared to placebo.     

A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism

In Ullrich-Turner syndrome (UTS) patients, the presence of a Y-chromosome or Y-derived material has been documented in frequencies ranging from 4-61%. Mutations of SRY (testis-determining gene) constitute the cause of XY sex reversal in approximately 10-15% of females with pure gonadal dysgenesis. Most of these mutations have been described in the HMG (high mobility group) box of the gene, which is the region responsible for DNA binding and bending; however, various mutations outside the HMG box have been reported. We carried out molecular studies of the SRY gene in three patients with a UTS phenotype and bilateral streaks; two presented a 45,X/46,XY mosaic, and the third a Y marker chromosome. In two patients a missense mutation, S18N, was identified in the 5' non-HMG box region in DNA from blood and both streaks; this mutation was not identified in 75 normal males. Sequencing of the DNA region of interest was normal in the father and older brother of patient 1, demonstrating that in this patient the mutation was de novo. A previous report of a 46,XY patient with partial gonadal dysgenesis who presented the same mutation as our patients indicates the probable existence of a hot spot in this region of the SRY gene and strengthens the possibility that all gonadal dysgeneses constitute part of a spectrum of the same disorder. It also demonstrates that a single genetic abnormality can result in a wide range of phenotypic expression.     

Dialectical Behavior Therapy in the Treatment of Borderline Personality Disorder and Eating Disorders Comorbidity: A Pilot Study in a Naturalistic Setting

Dialectical behavior therapy (DBT) has been shown to be successful in the treatment of borderline personality disorder and eating disorders separately. The present study compares Standard Dialectical Behavior Therapy with a Treatment as Usual Cognitive Behavior Therapy (TAU CBT) for the treatment of borderline personality disorder and eating disorders comorbid features. A total of 118 women diagnosed with borderline personality disorders and eating disorders were assigned to one of two treatment groups in a naturalistic setting (DBT?=?71; TAU CBT?=?47). DBT showed a greater decrease in dysfunctional behaviors used to regulate emotions and related to borderline personality disorder (i.e. substance abuse, impulsive money spending, unprotected sex, etc.), non-suicidal self-injuries, and depressive symptoms, as well as an increase in cognitive reappraisal and global functioning. DBT and TAU CBT showed similar improvements in suicide attempts, dysfunctional eating behaviors (i.e. binge eating, purgative behaviors, and restriction), hospitalizations, negative and positive affect, and expressive suppression. Results of this study support the utility and effectiveness of standard DBT for comorbid borderline personality disorder and eating disorders in naturalistic settings. Replications of this study and randomized controlled trials are needed.