Polymorphisms in manganese superoxide dismutase and catalase genes: functional study in Hong Kong Chinese asthma patients

BACKGROUND: Reactive oxygen species may contribute to the pathogenesis of asthma. Functional genetic polymorphisms of antioxidant enzymes, superoxide dismutase (SOD) and catalase are good candidates for asthma susceptibility. OBJECTIVE: To investigate the association of the manganese-containing form of SOD (MnSOD) gene at amino acid position 16 (Val16Ala) and catalase gene in the promoter at A-21T and C-262T polymorphisms and asthma in a Hong Kong Chinese population. METHODS: The association study was conducted in a case-control design in asthma patients (n=251) and healthy controls (n=316) by genotyping. The functional significance was assessed by determining erythrocyte SOD and catalase activity. RESULTS: The Val allele of MnSOD at Val16Ala and the A allele of catalase gene at A-21T were not different between patients and controls, while the C allele of catalase gene at C-262T was found to be significantly different between patients and controls (P=0.033). The less frequent variant of catalase gene (-262T) was found to be protective from the development of asthma in a Hong Kong Chinese non-smoking population (adjusted odds ratio=0.35, 0.15-0.85; P=0.017). Asthma patients had elevated erythrocyte SOD and catalase activities in comparison with healthy controls (P<0.01). However, their activities were not associated with different genotypes within healthy controls or asthma patients. CONCLUSION: This is the first report showing that SOD and catalase functional activities are not associated with their respective genetic polymorphisms but related to the presence of asthma in a Hong Kong Chinese population.     

The path to care in autism: Is it better now?

Parents of children with autism often report problems associated with obtaining a diagnosis of their child's condition, family support, information, and appropriate services. To evaluate any changes in the situation over the last two decades, the families of all members of the West Midlands Autistic Society, age 19 years and below, were asked to fill in a questionnaire that covered aspects of detection, diagnosis, help and information received, and educational provision. Responses were obtained from 127 families, the children of whom formed an older group ages 10 years and above (n=67) and a younger group ages 9 years and below (n=61). Findings show that there have been improvements for the younger group in some areas, such as earlier referral, diagnosis, and statementing. However, the situation with respect to advice given by professionals and the support and provision available after referral is still much the same as that experienced by families of the older group of children. Many difficulties and hurdles remain which hinder parents and children on the path to care in autism.     

Mechanisms of connective tissue damage by crystals containing calcium

From available clinical, radiographic, and synovial fluid findings, coupled with in vivo radiolabelled crystal turnover data and in vitro experimental data, a hypothesis has been formulated relative to the pathogenesis of BCP crystal deposition diseases (Fig. 2). Synovial lining cells phagocytose BCP crystals and particulate collagens in the joint fluid. During and/or after internalization these cells are stimulated in a variety of ways: 1) protease synthesis and secretion is relentlessly stimulated, which may damage joint tissues producing clinically evident loss of collagenous tissues including cartilage, bone, and tendon, and which may release additional amounts of crystals and particulate collagens into the synovial fluid, completing a vicious cycle; 2) PGE2 production is greatly augmented; 3) DNA synthesis is stimulated as a result of increased inositol phospholipid turnover and intracellular crystal dissolution. The increased number of synovial cells also augments the total local generation of proteases and prostenoids. Mechanical factors such as trauma or joint overuse also contribute to the pathogenesis of joint destruction as discussed in the article on the clinical aspects of BCP crystal deposition.     

Dydrogesterone-induced hepatitis and autoimmune hemolytic anemia.

Dydrogesterone, similar to women's natural progesterone, has been used in a wide range of gynecological conditions. Despite its widespread use, dydrogesterone-induced hepatotoxicity and dydrogesterone-induced hemolytic anemia have, to the best of our knowledge, never been reported previously. We describe a case of hepatitis and warm antibody hemolytic anemia due to dydrogesterone.     

Practice of orthokeratology by a group of contact lens practitioners in Hong Kong

Purpose: The aim of the study was to provide information about the characteristics of three main types of orthokeratology (ortho‐k) lenses used in Hong Kong and to report on their performance based on the clinical impressions of a group of ortho‐k practitioners. Method: Twelve ortho‐k practitioners were interviewed between 1 March and 30 June 2001. Results: Most ortho‐k lenses were ordered from three manufacturers: DreimLens, Fargo and Contex. The median maximum myopia reduction reported for DreimLens, Contex and Fargo lenses were 6.25 D, 6.00 D and 4.50 D respectively. The time to reduce myopia by up to 4.00 D could be up to three weeks for Contex and DreimLens and up to four weeks for Fargo. For reduction of myopia by up to 4.00 D, the treatment usually required only one or two lenses per eye for all three types of lenses. The incidence of lens binding and lens tightening after achieving the optimal reduction was reported to be higher with the DreimLens design. Good centration, less lens binding, relatively lower incidence of complications and lens tightening after achieving the optimal reduction were reported with the Fargo lenses. Conclusions: DreimLens tended to be more effective for myopia reduction. However, some practitioners were concerned with the aggressiveness of myopia reduction using this lens design and the higher potential for ocular complications. Selection of the lens design is dependent on various factors, in particular, practitioners need to be comfortable with the design they choose and to consider the needs of their patients and the final goal of the treatment.     

Defining the Role of Surgery for Primary Gastrointestinal Tract Melanoma

Objective The objective of the study was to determine the outcomes for primary gastrointestinal melanomas (PGIM). Material and methods The Surveillance, Epidemiology, and End Results database (1973–2004) was queried. Results Overall, 659 cases of PGIM were identified. The annual incidence of PGIM was approximately 0.47 cases per million in 2000. Overall median survival time was 17 months. Tumors were identified in the oral–nasopharynx (32.8%), anal canal (31.4%), rectum (22.2%), esophagus (5.9%), stomach (2.7%), small bowel (2.3%), gallbladder (1.4%), and large bowel (0.9%). Univariate analysis demonstrated age, tumor location, stage, surgery, and lymph node status were significant predictors of improved survival. MST has not been reached for tumors located in the large bowel, while tumors located in the stomach demonstrated the shortest median survival (5 months). Improvement in MST was observed for those patients undergoing surgical resection. The presence of lymph node involvement conferred a poorer prognosis. Multivariate analysis of the cohort identified that location, advanced tumor stage, failure to undertake surgical resection, positive lymph node status, and age were all independent predictors of poorer outcome. Conclusion PGIM occurs most often in the oral–nasopharynx and anal canal. Surgical extirpation is the only identifiable treatment modality that significantly improves survival.     

A study of the freeze-drying conditions of calixarene based solid lipid nanoparticles.

In this note, we report a study of cryoprotectant carbohydrate (glucose, fructose, mannose and maltose) effects on the reconstitution of calixarene based solid lipid nanoparticle (SLN) suspensions after freeze-drying, studied by atomic force microscopy and photon correlation spectroscopy. All carbohydrates tested showed excellent cryoprotection and redispersion properties with the calixarene based SLNs.     

Osgood-Schlatter lesion: fracture or tendinitis? Scintigraphic, CT, and MR imaging features.

To determine whether the Osgood-Schlatter lesion (OS) is produced by avulsion fracture or injury to the patellar tendon, all images obtained in 28 cases of OS in 20 patients (16 scintigrams, 34 computed tomographic [CT] scans, and 27 magnetic resonance [MR] images) were retrospectively analyzed. In 21 cases, imaging was performed before and after treatment; in 20 cases, relief from pain was complete at the time of repeat examination. In all patients (100%), abnormal size of the tendon, decreased attenuation, and increase in signal intensity were compatible with the CT and MR imaging appearance of tendinitis. Distended deep infrapatellar bursa was a frequent finding, particularly on MR studies. These abnormalities had partially disappeared at follow-up examination. An ossicle was seen in only nine of 28 cases (32%); in three of seven cases with follow-up, the ossicle remained nonunited to the tibial tuberosity on follow-up studies despite relief from symptoms. This implies that healing of fracture is not essential for relief from symptoms. These results strengthen the argument that in most cases of OS, insult to the tendon and associated soft tissues, rather than avulsion fracture, causes OS.     

Search for coloured objects in natural surroundings by people with abnormal colour vision

Background: People with abnormal colour vision often report difficulty seeing coloured berries and flowers in foliage, which suggests they will have a diminished capacity for visual search when target objects are marked out by colour. There is very little experimental evidence of the effect of abnormal colour vision on visual search and none relating to search for objects in natural foliage. Method: We showed 79 subjects with abnormal colour vision (seven protanopes, 10 deuteranopes, 16 protanomals and 46 deuteranomals) and 20 subjects with normal colour vision photographs of natural scenes and asked them to locate clumps of red berries, to trace the length of a red string on grass and to name the season depicted in a photograph taken in the Autumn and the same scene photographed in the Summer. Colour vision was assessed using the Ishihara, the Medmont C100, the Farnsworth D15, the Richmond HRR and the Nagel anomaloscope. Results: All the subjects with abnormal colour vision located fewer clumps of red berries than those with normal colour vision. The subjects who failed the Farnsworth D15 performed significantly worse than those who passed but the distribution of scores in the two groups overlaps. The majority of subjects with abnormal colour vision could not trace the full length of the string: only 38 per cent of anomalous trichromats who passed the Farnsworth D15 test and three per cent of those who failed it were able to trace the full length of the string. Fifty‐five per cent of those classed as having a mild deficiency by the HRR test could trace the whole string. Most dichromats were unable to identify the Autumn season and those who did may have been assisted by guessing. Most (94 per cent) of those who passed the Farnsworth D15 test and all those classified as having a ‘mild’ deficiency by the HRR test could identify the season. Conclusions: All people with abnormal colour vision, even those with a very mild deficiency, have some degree of impairment of their ability to see coloured objects in natural surroundings. A pass at the Farnsworth D15 test or a ‘mild’ classification with the Richmond HRR test identifies those likely to have the least problems with visual search and identification tasks. The results have practical implications for the selection of personnel in occupations that involve visual search in natural terrain.