"Everybody's Different": a primary prevention program among fifth grade school children

The aim of the present study was to assess the efficacy and effectiveness of the primary prevention program “Everybody's Different” among fifth grade school children. Pre and post measurements were made in both the intervention and control groups regarding body image, weight concern, emotional well-being, attitudes and behaviors associated with disordered eating, self-esteem, anxiety, and depression. The study did not result in any significant improvements regarding self-esteem, eating attitudes, or body image. The prevention program does not seem to be effective for children in grade five in its present form. Further research on and development of primary prevention programs is needed.     

Mitochondrial dysfunction in autism spectrum disorders: a population-based study

A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency. In a population-based study, we screened associated medical conditions in a group of 120 children with autism (current age range 11y 5mo to 14y 4mo, mean age 12y 11mo [SD 9.6mo], male:female ratio 2.9:1). Children were diagnosed using Diagnostic and Statistical Manual of Mental Disorders criteria, the Autism Diagnostic Interview--Revised, and the Childhood Autism Rating Scale; 76% were diagnosed with typical autism and 24% with atypical autism. Cognitive functional level was assessed with the Griffiths scale and the Wechsler Intelligence Scale for Children and was in the normal range in 17%. Epilepsy was present in 19 patients. Plasma lactate levels were measured in 69 patients, and in 14 we found hyperlactacidemia. Five of 11 patients studied were classified with definite mitochondrial respiratory chain disorder, suggesting that this might be one of the most common disorders associated with autism (5 of 69; 7.2%) and warranting further investigation.     

A study of the opinions and behaviors of physicians with regard to informed consent and refusing treatment

OBJECTIVE: To examine the opinions and the self-reported behaviors of physicians regarding the issues of informed consent and refusing treatment. DESIGN: This study was performed between July and September 2003, with 51 physicians selected by simple random sampling. The data were collected by using a questionnaire. SETTING: A training hospital of medicine faculty. PARTICIPANTS: Fifty-one clinicians working in the branches of internal medicine and surgery. RESULTS: Although the majority (80.4%) of the participants think that information about diagnosis and treatment should always be disclosed to patients, 60.8% reported that they always disclose information about the diagnosis and 49% did the same for information about treatment. A total of 84.3% think that patients' consent should always be obtained before diagnostic and therapeutic procedures, whereas 47% reported that they always obtain consent in their clinical practice. It was also seen that physicians have doubts concerning the comprehension of the information they disclose to their patients. In addition, most (86.3%) of the participants think that a competent patient always has the right to refuse treatment, regardless of the disease and the outcomes. CONCLUSIONS: Although opinions favoring the duties implied by informed consent are in the majority, these do not always reflect the behaviors in daily clinical practice, and there may be problems in carrying out the duties implied by the elements of informed consent. Some recommendations that could be beneficial in addressing these problems are presented at the end of the study.     

Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis

Posttransplantation erythrocytosis (PE) is a frequent problem in renal transplant patients. The pathogenesis and mechanisms of both the problem and therapy strategy are unknown. Since ACE and angiotensin 2 receptor inhibitors have been used to successfully manage PE, we speculated a relation between gene polymorphisms and this complication. Ninety-six ( 30 women, 66 men, age 34.4 +/- 11.0 years) renal transplant patients evaluated retrospectively, for gene polymorphisms of ACE, angiotensinogen, angiotensin 1 and 2 receptors (ATR1 and ATR2), as well as endothelial nitric oxide synthase (ecNOS). They were divided into two groups; patients with versus without PE, which was defined as >15 g/dL hemoglobin levels during the first year after renal transplantation. PE was found to be significantly more prevalent among D/D than I/I gene polymorphism of ACE genes (P <.04). The distribution of D/D, I/D, and I/I polymorphisms were 39.1%, 45.9%, and 7.6%, respectively. There was no difference between D/D and I/D polymorphisms. Comparing the I/D and I/I polymorphisms showed PE to be statistically more prevalent in the I/D polymorphism (P <.01). Logistic regression analysis revealed that D/D and I/D polymorphisms were significant risk factors for PE (P <.05, RR = 7.714 and P <.03, RR = 10.199, respectively). While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism.     

Congenital xerocytosis

Hereditary xerocytosis is a genetic disease inherited as an autosomal dominant trait and is a rare cause of hemolytic anemia. It is caused by abnormal erythrocyte membrane permeability: monovalent cation pump activity is increased and the Na/K pump cannot compensate for the K lost. As a consequence, xerocytes dehydrate, becoming rigid and sensitive to metabolic stress and oxidation. Morbility depends on the severity of the hemolytic anemia. Periodic episodes of jaundice are common during mild infections; most patients remain asymptomatic but experience mild-to-moderate hemolytic anemia, which is generally well compensated. The diagnostic clues are a markedly increased flow through the Na/K pump with a decrease in total intracellular cation content and subsequent red cell dehydration. Treatment is based on monitoring for eventual complications and careful observation during infections, which may worsen the anemia. Splenectomy is not useful and for some authors may even be contraindicated. The prognosis is generally very good. We report the case of a patient with episodes of hemolytic anemia during intercurrent infections and positive diagnostic tests for hereditary xerocytosis.     

Redistribution of corticotropin-releasing hormone receptor R2 using fluorescence immunohistochemistry in fetal membranes of women delivering preterm or at term

OBJECTIVE: The aim of our study was to determine whether a difference exists in expression of corticotropin-releasing hormone receptor-R1 (CRH-R1) and corticotropin-releasing hormone receptor-R2 (CRH-R2) in fetal membranes of preterm and term women with or without labor. MATERIAL AND METHODS: Small pleces of fetal membranes were obtained from the placenta of each of forty patients undergoing cesarean section. Ten samples each were taken from preterm and term patients, with and without labor. Antibodies against CRH-R1/2 and CRH-R2 were used for localization by conventional fluorescence immunohistochemistry. The evaluation of staining was based on examination of the entire histologic section by three independent observers. RESULTS: In women at term without labor, CRH-R2 receptor was predominantly expressed in the amniotic epithelium and the amniotic mesenchyme. In laboring women at term, the expression of CRH-R2 receptor was shown in the chorionic mesenchyme and the cytotrophoblast cells, but no specific staining could be detected in the amniotic membranes. Changes in CRH-R2 receptor expression could not be demonstrated during preterm labor of early pregnancies. In preterm women, the antibody against CRH-R1/2 receptor detected additional signals in the amniotic mesenchyme and epithelium, suggesting expression of CRH-R1 in these tissues. In women at term, the overlapping pattern of CRH-R1/2 was recognized in both the chorionic and amniotic mesenchyme, in contrast to the specific CRH-R2 staining, suggesting expression of CRH-R1 in the mesodermal cell compartments. CONCLUSION: At term, changes in CRH-R2 expression are directly related to the progression of normal labor; such changes were not observed during preterm labor of early pregnancies. The increased CRH-R2 expression in the chorionic mesenchyme may possibly provoke rupture of the membranes or at least play a role in some key regulatory events in the initiation of normal labor. The fact that this mechanism does not occur in preterm labor strengthens the hypothesis that onset of labor could be controlled by distinct mechanisms in preterm and term pregnancies.     

Combination of QT variability and signal-averaged electrocardiography in association with ventricular tachycardia in postinfarction patients

The authors investigate incidence of ventricular tachycardia/ventricular fibrillation (VT/VF) in relationship with combination of noninvasive arrhythmia risk markers as left ventricular ejection fraction (LVEF), late potentials (LP), and QT variability index (QTVI) and compare the utility of their combination in association with sustained ventricular arrhythmias in patients after myocardial infarction (MI). Fifty-four patients with old MI, among them 27 with documented spontaneous sustained VT/VF entered the study. All of them underwent evaluation for arrhythmias and noninvasive risk stratification. Logistic regression analysis demonstrated that the highest association with ventricular tachyarrhythmia had combination of LP and increased QTVI (13.8, P<.0002), followed then by combination of LVEF and LP (12.2, P<.0005), LP alone (P<.001), QTVI (P<.002) and LVEF (P<.003) alone and age (P<.01). After stepwise regression analysis showed that the model including association of LP and QTVI, age and EF is the best one for delineating patients having the risk of ventricular tachyarrhythmia development. In conclusion, patients with combination of positive LP and increased QTVI after MI have high likelihood for development of serious sustained arrhythmia.     

Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutations

Although thrombosis is relatively rare in children, reports of young patients with thrombosis are becoming more frequent with time. Activated protein C resistance and prothrombin 20210 A mutation are results of point mutations described in the last decade. This article highlights a case of a child with severe arterial thrombosis who was heterozygous for the factor V Leiden (FVL) and prothrombin G20210A mutations. The patient diagnosed with purpura fulminans was an 8-year-old boy who was referred to our hospital with purpuric lesions on the extremities and necrosis of the penis. We believe that the coexistence of more than one thrombophilic mutation contributed to the occurrence of severe thrombosis at a young age in this patient.