Investigating molecular pathogenesis of Campomelic Dysplasia

Student Stage Presentation Session 1: no. T01Two decades after the discovery that sequence alterations within and around SOX9 cause Campomelic Dysplasia (CD) - a rare skeletal malformation syndrome characterized by severe bowing of long bones (campomelia), the underlying molecular pathogenesis leading to bone dysmorphism remains unclear ...postprin

Latent tuberculosis infection, tuberculin skin test and vitamin D status in contacts of tuberculosis patients: a cross-sectional and case-control study

<p>Abstract</p> <p>Background</p> <p>Deficient serum vitamin D levels have been associated with incidence of tuberculosis (TB), and latent tuberculosis infection (LTBI). However, to our knowledge, no studies on vitamin D status and tuberculin skin test (TST) conversion have been published to date. The aim of this study was to estimate the associations of serum 25-hydroxyvitamin D₃(25[OH]D) status with LTBI prevalence and TST conversion in contacts of active TB in Castellon (Spain).</p> <p>Methods</p> <p>The study was designed in two phases: cross-sectional and case-control. From November 2009 to October 2010, contacts of 42 TB patients (36 pulmonary, and 6 extra-pulmonary) were studied in order to screen for TB. LTBI and TST conversion cases were defined following TST, clinical, analytic and radiographic examinations. Serum 25(OH)D levels were measured by electrochemiluminescence immunoassay (ECLIA) on a COBAS^®410 ROCHE^®analyzer. Logistic regression models were used in the statistical analysis.</p> <p>Results</p> <p>The study comprised 202 people with a participation rate of 60.1%. Only 20.3% of the participants had a sufficient serum 25(OH)D (≥ 30 ng/ml) level. In the cross-sectional phase, 50 participants had LTBI and no association between LTBI status and serum 25(OH)D was found. After 2 months, 11 out of 93 negative LTBI participants, without primary prophylaxis, presented TST conversion with initial serum 25(OH)D levels: a:19.4% (7/36): < 20 ng/ml, b:12.5% (4/32):20-29 ng/ml, and c:0%(0/25) ≥ 30 ng/ml. A sufficient serum 25(OH)D level was a protector against TST conversion a: Odds Ratio (OR) = 1.00; b: OR = 0.49 (95% confidence interval (CI) 0.07-2.66); and c: OR = 0.10 (95% CI 0.00-0.76), trends p = 0.019, adjusted for high exposure and sputum acid-fast bacilli positive index cases. The mean of serum level 25(OH)D in TST conversion cases was lower than controls,17.5 ± 5.6 ng/ml versus 25.9 ± 13.7 ng/ml (p = 0.041).</p> <p>Conclusions</p> <p>The results suggest that sufficient serum 25(OH)D levels protect against TST conversion.</p

Management of NIDDM by family doctors in Hong Kong: A questionnaire survey

The management approach to non-insulin-dependent diabetes mellitus among family doctors in Hong Kong was studied using two case histories. In 1996, all 804 fellows, members and associate members of the Hong Kong College of Family Physicians were sent a letter and a questionnaire. Of the 512 who responded, 405 were male and 95 were female (12 were discarded) with ages ranging from 24 to 77 years (median 40), For the 48-year-old obese man who showed improvements in blood glucose and symptoms after diet for 6 weeks (Case 1), most respondents suggested adding a sulphonylurea (39.0%) or metformin (21.1%), or continuing diet (35.2%). Younger and more junior doctors tended to use metformin plus diet. Of 192 respondents who wanted to use a sulphonylurea, gliclazide (45.8%) and glibenclamide (42.7%) were chosen most often. For the 76-year-old overweight woman with symptomatic diabetes despite diet therapy (Case 2), most respondents suggested adding a sulphonylurea (41.9%), metformin (25.6%) or both (19.2%). Younger and more junior doctors tended to use metformin plus diet, whereas older doctors tended to use insulin plus diet. Older and more experienced doctors tended to use diet plus metformin and sulphonylurea. Of 208 respondents who wanted to use a sulphonylurea, gliclazide (47.8%) and glibenclamide (30.1%) were chosen most often. The management approach to NIDDM varied with the age and experience of the doctor.link_to_subscribed_fulltex

Diagnostic accuracy of haptoglobin within ovarian cyst fluid as a potential point-of-care test for epithelial ovarian cancer: an observational study

To investigate haptoglobin within ovarian cyst fluid (OCF) as a diagnostic biomarker for epithelial ovarian cancer (EOC) and develop an in\ua0vitro diagnostic point-of-care device test (IVDPCT) for use in the operating theatre.Retrospective and prospective cohort study.South-East Asia.Women with suspicious ovarian cysts.Proteomic, immunohistochemical and ELISA methods measured haptoglobin in OCF to differentiate benign and EOCs. Diagnostic performance of haptoglobin was compared with CA125, risk malignancy indices (RMI) and frozen section. Blinded validation of the IVDPCT was performed.Prediction of malignancy.Haptoglobin concentration measured by ELISA was 0.70\ua0±\ua00.09\ua0mg/ml in patients with benign cysts (n\ua0=\ua087), 6.22\ua0±\ua00.53\ua0mg/ml in early stage-EOC (n\ua0=\ua017), and 6.57\ua0±\ua00.65\ua0mg/ml in late stage-EOC (n\ua0=\ua020). Haptoglobin in EOCs was significantly higher than in benign cysts (P\ua

D-mannose as a preservative of glucose in blood samples

We studied the changes in blood glucose concentration in blood samples collected in heparinized specimen tubes containing no other preservative, or containing NaF, D-mannose, or a combination of NaF and D-mannose. Blood concentration in samples taken into NaF decreased by 0.40 mmol/L in the first 2 h; thereafter, there was no change. In samples collected into mannose there was a small but significant decrease in blood glucose concentration with time. When samples containing mannose were analyzed immediately after collection, the concentration of glucose was higher than in later analyses, probably because of an exchange of intracellular glucose for extracellular mannose. When a combination of NaF and mannose was used, the blood glucose concentration was relatively stable but slightly higher than nonpreserved samples for the next 24 h. However, samples containing mannose were unsuitable for electrolyte analysis. We conclude that a combination of D- mannose and NaF may be a better preservative for blood glucose than either compound alone.link_to_OA_fulltex