Transcultural understanding of a hereditary disorder. Mucopolysaccharidosis VI in a Vietnamese family

A case study of a family referred for clarification of cultural issues illustrates how a transcultural psychiatric service developed in the pediatric hospital setting can be used to advantage. A Vietnamese family with an inherited disorder. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI), resisted genetic counseling and contraception. Three out of their six children were affected, one with a fatal outcome. The transcultural consultation offered an understanding of their behavior and facilitated subsequent management.     

A short-term follow-up comparison of two trans-obturator tape procedures

The objective of the study was to compare the clinical outcomes at the short-term follow-ups of two novel transobturator mid-urethral sling procedures – the transobturator tape (TOT) procedure and the tension-free vaginal tape (TVT)-obturator procedure. The study cohort consisted two groups of 40 women with urodynamically proven stress urinary incontinence (SUI). The patients in one group underwent the TOT procedure, performed according to Delorme (Prog Urol 11:1306–1313, 2001); those in the second group underwent the TVT-obturator operation, performed according to de Leval (Eur Urol 44:724–730, 2003). Intra-operative diagnostic cystoscopy was not performed with either the TVT-obturator or the TOT procedures. The average follow-up was 12 months. The two patient groups were similar in terms of demographic and therapeutic criteria, except for patient age, which was significantly younger in the TVT-obturator group. Previously reported TVT-related operative complications, such as bladder penetration, intra-operative bleeding, field infection and post-operative pelvic floor relaxation, were not observed in patients of either group. Bowel and urethral injuries were also not recorded. The therapeutic failure rates were 10% for the TOT procedure and 5% for the TVT-obturator procedure. Urinary frequency and urgency post-operatively were reported in 25% of the TOT patients and 19% of the TVT-obturator patients, pelvic or vaginal pain affected 10% of the TOT and 5% of the TVT-obturator patients, while post-operative voiding difficulty was experienced by 12.5% of the TOT and 7.5% of the TVT-obturator patients. None of the above-mentioned differences between the two patient groups were of statistical significance. The TVT-obturator and TOT procedures, both minimally invasive, novel, mid-urethral sling procedures, seem to be safe, easy-to-perform and effective in treating female SUI. The patients of both study groups suffered less intra- and post-operative surgical complications than previously been reported in connection with the TVT operation. The TVT-obturator patients had fewer therapeutic failures, less post-operative urinary frequency and urgency, less pelvic pain and less voiding difficulty. All of these findings, however, had no statistical significance; consequently, long-term comparative data collection will be required before solid conclusions can be drawn on the superiority of either of these two operative techniques.     

Familial fixed subaortic stenosis

In this report, we give details of two families in which fixed subaortic stenosis was found in more than one member. It is rare for this entity to show familial incidence.     

Localization of denatured enzyme molecules in rat lenses

Immunohistochemical localization of altered enzyme molecules was detected by the use of antibodies to denatured enzymes (ADE) conjugated with fluorescein. Denatured aldolase, glucose 6-phosphate dehydrogenase and superoxide dismutase are mostly located in the subcortical region and in the nucleus of the rat lens. In the nuclear fibres the enzyme is located near the membrane of the fibres. This study provides additional evidence that altered enzyme molecules accumulate in the lens, and indicates their exact localization. ADE antibody can distinguish between inactive enzyme molecules and active ones, using immunohistochemical techniques.     

Cardiac conduction abnormalities and rhythm changes after neonatal anatomical correction of transposition of the great arteries.

Seventy three infants who underwent neonatal anatomical correction for transposition of the great arteries with or without a ventricular septal defect were reviewed for evidence of conduction and rhythm abnormalities on preoperative and postoperative 12 lead electrocardiograms and during 24 hour Holter monitoring. There was a partial right bundle branch block pattern in 47% (29/62) of all patients and in 60% (24/40) of those with simple transposition. Complete right bundle branch block was noted in 21% including 5% with simple transposition. Holter monitoring showed sinus rhythm in all patients except three: one had episodes of supraventricular tachycardia, another an intermittent second degree heart block, and a third a complete heart block. Atrial extrasystoles were noted in 47% (29/62) of patients but were frequent in only three patients. Occasional unifocal ventricular extrasystoles were encountered in 37% (23/62) of patients and were frequent in a further 3% (2/62). Only one patient (2%) developed multifocal ventricular extrasystoles. The frequency of important cardiac arrhythmias after neonatal anatomical correction of transposition of the great arteries was 5%, significantly less than that reported after atrial inflow diversion for the same malformation.     

Beneficial autoimmunity to proinflammatory mediators restrains the consequences of self-destructive immunity

Therapies that neutralize the function of TNF-alpha suppress rheumatoid arthritis (RA) but not osteoarthritis (OA). We show that patients suffering from RA but not OA have significant levels of autoantibodies directed to TNF-alpha. Thus, the immune system can selectively generate autoimmunity to proinflammatory mediators when such a response is beneficial for the host. A well-defined model of RA was used to elaborate the contribution of beneficial autoimmunity to the regulation of disease. We show that during the disease autoantibody production is elicited against few inflammatory, but not regulatory, mediators. Selective amplification of these beneficial antibodies by targeted DNA vaccines provided protective immunity. Epitope mapping revealed that anti-TNF-alpha immunity is highly restricted and excretes no crossreactivity to other known gene products. Its selective exclusion substantially exacerbated the disease. Administration of anti-TNF-alpha antibodies could then override this aggravation. This substantiates the significance of beneficial autoimmunity in restraining self-destructive immunity.     

Differential effects of growth factors on tissue-engineered cartilage

The effects of four regulatory factors on tissue-engineered cartilage were examined with specific focus on the ability to increase construct growth rate and concentrations of glycosaminoglycans (GAG) and collagen, the major extracellular matrix (ECM) components. Bovine calf articular chondrocytes were seeded onto biodegradable polyglycolic acid (PGA) scaffolds and cultured in medium with or without supplemental insulin-like growth factor (IGF-I), interleukin-4 (IL-4), transforming growth factor-beta1 (TGF-beta1) or platelet-derived growth factor (PDGF). IGF-I, IL-4, and TGF-beta1 increased construct wet weights by 1.5-2.9-fold over 4 weeks of culture and increased amounts of cartilaginous ECM components. IGF-I (10-300 ng/mL) maintained wet weight fractions of GAG in constructs seeded at high cell density and increased by up to fivefold GAG fractions in constructs seeded at lower cell density. TGF-beta1 (30 ng/mL) increased wet weight fractions of total collagen by up to 1.4-fold while maintaining a high fraction of type II collagen (79 plus minus 11% of the total collagen). IL-4 (1-100 ng/mL) minimized the thickness of the GAG-depleted region at the construct surfaces. PDGF (1-100 ng/mL) decreased construct growth rate and ECM fractions. Different regulatory factors thus elicit significantly different chondrogenic responses and can be used to selectively control the growth rate and improve the composition of engineered cartilage.     

Impact of Treatment for Childhood Obesity on Parental Risk Factors for Cardiovascular Disease

Background. Family-based approaches using the parents as agents of change to treat childhood obesity are superior to programs targeting only children in achieving weight reduction and have a lower dropout rate.Objective. The aim of this study was to compare the impact of two behavioral approaches (parents only vs children only) for the treatment of childhood obesity on parental weight, eating, and activity habits as well as cardiovascular risk factors.Design. A randomized 1-year clinical intervention study was performed.Methods. Sixty obese children (≥20% over ideal weight for age, height, and sex), ages 6–11 years, were randomly allocated to the experimental (parents as sole agents of change) or conventional groups (children as sole agents of change). Fourteen (1-h-long) support/educational sessions were conducted by a clinical dietitian for the parents in the experimental group and 30 sessions for children in the conventional group. Anthropometric and biochemical measurements were determined at the start and end of the program.Results. The experimental approach, when compared to the conventional intervention, was found to be superior in the reduction of fathers overweight (P < 0.05). The former approach resulted also in improved profile of risk factors for cardiovascular disease in both parents. These changes could be ascribed to a greater improvement in eating and activity behaviors observed in parents belonging to the experimental intervention group who participated in a family-based intervention to treat their children's obesity.Conclusions. Treatment of childhood obesity targeting the parents as the sole agent of change, which is more effective for the treatment of childhood obesity when compared to a children-oriented program, may in addition award parents with the benefit of changing their own eating and activity patterns, thus making this program ideal for treatment of obesity in children and their overweight parents.