Physical performance testing in mucopolysaccharidosis I: a pilot study

OBJECTIVE: To develop and field-test a physical performance measure (MPS-PPM) for individuals with Mucopolysaccharidosis I (MPS I), a rare genetic disorder. METHODS: Motor performance and endurance items were developed based on literature review, clinician feedback, feasibility, and equipment and training needs. A standardized testing protocol and scoring rules were created. The MPS-PPM includes: Arm Function (7 items), Leg Function (5 items), and Endurance (2 items). Pilot data were collected for 10 subjects (ages 5-29 years). We calculated Spearman's rho correlations between age, severity and summary z-scores on the MPS-PPM. RESULTS: Subjects had variable presentations, as correlations among the three sub-test scores were not significant. Increasing age was related to greater severity in physical performance (r = 0.72, p<0.05) and lower scores on the Leg Function (r = -0.67, p<0.05) and Endurance (r = -0.65, p<0.05) sub-tests. The MPS-PPM was sensitive to detecting physical performance deficits, as six subjects could not complete the full battery of Arm Function items and eight subjects were unable to complete all Leg Function items. Subjects walked more slowly and expended more energy than typically developing peers. CONCLUSIONS: Individuals with MPS I have difficulty with arm and leg function and reduced endurance. The MPS-PPM is a clinically feasible measure that detects limitations in physical performance and may have potential to quantify changes in function following intervention.     

Congenital varicella resulting from infection during second trimester of pregnancy

An infant with left microphthalmia, enophthalmia, and cataract with scattered zosterform skin lesions from maternal varicella at 20 weeks' gestation is described. The mother's abnormal obstetric history is discussed and published reports on congenital and neonatal varicella reviewed.     

Otorhinolaryngological manifestations of the mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are a family of related inherited metabolic disorders where, due to specific lysosomal enzyme deficiencies, partially degraded glycosaminoglycans (GAGs) accumulate in the body's cells. Due to the ubiquitous nature of GAGs in the body this deposition can occur in many tissue types and may interfere with cellular function. Although these conditions are rare, there is a propensity for the disease process to cause problems with the function of the ears, noses and throats of affected patients. In this review, we present an overview of the clinical manifestations of MPS in general and highlight the problems specifically presenting in the field of otorhinolaryngology.     

Association of Dental Anaesthetists. Summer Scientific Meeting Stirling, Scotland 8-9 June, 2001. ADA meeting report

Local anaesthesia in addition to general anaesthesia can alleviate pain and distress caused by painful procedures in community dentistry for special needs patients. Further studies are needed to confirm these results in a larger group of patients.     

Mutation analysis in 46 British and Irish patients with Gaucher's disease

DNA from 46 unrelated patients with Gaucher's disease was analysed for 10 known mutations: 84GG(c84 G 85ins), N370S (c1226G), L444P (c1448C), R463C (c1504T), R496H (c1604A), IVS2+1, D409H (c1342C), RecNcil (c1448C-1498C), RecTL (c1342C-1498C), and c1263del (c1264-1318del). Fifty four mutations (90%) were identified in 30 patients with type I disease. These included a previously undescribed recombinant mutation RecA456P (c1448C-1484C). Thirteen (54%) of 24 type II alleles were identified, including one new point mutation N462K (c1503G) and one new 55bp deletion also incorporating the RecTL mutations c1263del+RecTL (c1264del-1498C). All four type III patients were homozygous for the L444P point mutation. Generally, patients with one copy of the N370S mutation had mild adult onset disease, regardless of the nature of their second mutation. Three exceptions had childhood onset disease and genotypes N370S/R463C, N370S/RecA456P, and N370S/?. The L444P/L444P genotype was thought to be associated with neurological disease. Two type I patients with this genotype who exhibited no central nervous system disease were identified, however. The R463C and c1263del mutations were found to be present at a higher frequency than reported in other populations and they should be included in any mutation screen of this population. The recombinant mutations RecA456P and c1263del+RecTL have not been previously described and are the fourth and fifth recombinant mutations identified in the glucocerebrosidase gene.     

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

A 20-month-old girl with developmental delay, dysmorphic features, horizontal supranuclear gaze palsy, retrocollis, and episodes of laryngospasm was diagnosed with variant neuronopathic Gaucher disease. The diagnosis was made enzymatically. Mutation analysis showed compound heterozygosity for D409H and a previously unreported mutation C16S. The presence of dysmorphic features, laryngospasm, absent cardiac findings, and the severe clinical phenotype distinguishes our case from other cases of variant neuronopathic Gaucher disease. We therefore propose to extend the spectrum of variant Gaucher disease.     

Sildenafil (Viagra) for male erectile dysfunction: a meta-analysis of clinical trial reports

Background  

Evaluation of company clinical trial reports could provide information for meta-analysis at the commercial introduction of a new technology.     

Raising Awareness for Lung Cancer Prevention and Healthy Lifestyles in Female Scholars from a Low-Income Area in Bogota,Colombia: Evaluation of a National Framework

This study aims to determine the effects of an educational intervention, based on the Colombian guidelines for educational communication in the framework of cancer control, for raising lung cancer prevention-related awareness, and improving healthy lifestyles in female scholars from a low-income area in Bogota, Colombia. Uncontrolled trial conducted in 243 female scholars (mean age 14 years ± 1.5 SD). Two 90 min educational sessions were carried out in March 2015 according to the Colombian guidelines for educational communication in the framework of cancer control. Posters and other educational materials were created by scholars after the intervention. All participants completed a self-reported questionnaire—The Cancer Awareness Measure—at pre and post-intervention, as well as 1, 3, and 6 months after the intervention. Smoking prevalence (8.2% at baseline) was reduced by 3.7% at 6 months follow-up (p < 0.005). The scholars exhibited low to moderate awareness of both warning signs and risk factors for lung cancer at baseline. These variables showed statistically significant improvements at 6 months follow-up (p < 0.005). Similar improvements were also found for physical activity, high-fat diet, and fruits and vegetable intake. This evaluation of the Colombian guidelines for educational communication in the framework of cancer control raised awareness towards lung cancer prevention, reduced smoking, and improved other healthy-lifestyle-related factors in a group of female scholars from a low-income area in Bogota, Colombia. Further randomized controlled studies are needed.