Postural and Time-Dependent Effects on Body Height and Scoliosis Angle in Adolescent Idiopathic Scoliosis

Changes in body height and scoliosis angle under the influence of gravity were studied in 40 patients with adolescent scoliosis. The average decrease in body height was 1% during a day. There were no significant changes in the mean angles of the scoliosis curves during the day. The patients were grouped according to age, standing and sitting heights, weight and skeletal maturation. A decrease in the scoliosis angles occurred in younger, more skeletally immature and lighter individuals, while an increase occurred in older, more skeletally mature and heavier individuals.

The difference between the scoliosis angles measured from standing and supine views was also analyzed. The correction of the scoliosis angle in the supine position was on average 19%. No correlation was found between the change in angle and any of the growth factors studied. There was also no correlation between the change in angle and the degree of curvature.     

BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis

Background BRCA1 and BRCA2 pathogenic variants (PVs) are associated with prostate cancer (PCa) risk, but a wide range of relative risks (RRs) has been reported.Methods We systematically searched PubMed, Embase, MEDLINE and Cochrane Library in June 2021 for studies that estimated PCa RRs for male BRCA1/2 carriers, with no time or language restrictions. The literature search identified 27 studies (BRCA1: n = 20, BRCA2: n = 21).Results The heterogeneity between the published estimates was high (BRCA1: I² = 30%, BRCA2: I² = 83%); this could partly be explained by selection for age, family history or aggressive disease, and study-level differences in ethnicity composition, use of historical controls, and location of PVs within BRCA2. The pooled RRs were 2.08 (95% CI 1.38–3.12) for Ashkenazi Jewish BRCA2 carriers, 4.35 (95% CI 3.50–5.41) for non-Ashkenazi European ancestry BRCA2 carriers, and 1.18 (95% CI 0.95–1.47) for BRCA1 carriers. At ages <65 years, the RRs were 7.14 (95% CI 5.33–9.56) for non-Ashkenazi European ancestry BRCA2 and 1.78 (95% CI 1.09–2.91) for BRCA1 carriers.Conclusions These PCa risk estimates will assist in guiding clinical management. The study-level subgroup analyses indicate that risks may be modified by age and ethnicity, and for BRCA2 carriers by PV location within the gene, which may guide future risk-estimation studies.Subject terms: Cancer epidemiology, Cancer epigenetics, Prostate cancer, Risk factors     

Pancreatin enhanced erosion of and macromolecule release from 2,2-bis(2-oxazoline)-linked poly(epsilon-caprolactone).

The degradation and erosion of solvent cast films and injection molded bars prepared from poly(epsilon-caprolactone) (PCL) and 2,2'-bis(2-oxazoline) linked poly(epsilon-caprolactone) (PCL-O) were evaluated in simulated gastric fluid (SGF) (pH 1.2, pepsin present) and in simulated intestinal fluid (SIF) (pH 7.5, pancreatin present). After incubation of the polymer films (10 mg) and bars (70 mg) in the medium, the resulting decrease in molecular weight (degradation) was determined by size exclusion chromatography and the weight loss of the preparations was measured. In addition, the effect of pancreatin on FITC-dextran (MW 4400) release from PCL and PCL-O microparticles, prepared by w/o/w double emulsion technique, was studied. No degradation or weight loss was observed for either PCL or PCL-O films in SGF (12 h incubation, 37 degrees C). When compared to PBS pH 7.4, pancreatin hardly enhanced the weight loss of PCL films and bars. In contrast, pancreatin enhanced substantially erosion of PCL-O films and bars. Unlike PCL preparations, the PCL-O preparations showed surface erosion in SIF. Pancreatin increased considerably FITC-dextran release from both PCL and PCL-O microparticles. In conclusion, the present results demonstrate the enzyme sensitivity of the novel PCL-O polymer. In addition, the results show that pancreatin present in intestinal fluid may substantially affect drug release from PCL based preparations.     

Validity and reliability of the Horiba C-122 compact sodium analyzer in sweat samples of athletes

Accurate sodium replacement during prolonged exercise is possible when sweat rate and sweat sodium content are directly measured. Few athletes have access to sweat sodium content measurement, as the equipment needed to perform such analyzes is costly, laboratory-based or requires technical skills. Using 70 sweat samples collected in 24 athletes from 3 anatomical sites, this study determined the reliability [single-trial and inter-day (7 samples over 3?days)] and validity (instrument error) of a pocket-sized, easy-to-use and low cost sodium analyzer (Horiba C-122, Kyoto, Japan) against reference values of an ion chromatograph, the 883 Basic IC plus (Metrohm AG, Herisau, Switzerland). The Horiba C-122 showed high single-trial reliability with an intraclass correlation coefficient (ICC) of 0.997, a typical error of measurement (EM) of 1.77?mmol/L and a coefficient of variation (CV) of 3.73%. As expected, the reliability of the 883 Basic IC plus was superior to that of the Horiba C-122 (ICC: 0.999; typical EM: 0.70?mmol/L; CV: 1.52%). The Horiba’s C-122 inter-day reliability was high (ICC: 1.00; typical EM: 0.35?mmol/L). An ICC of 0.975 indicates there was a strong relationship between results provided by both analyzers. Compared with reference values, the Horiba C-122 demonstrated a mean bias of 1.71?mmol/L, a pure EM of 7.52?mmol/L and 68% limits of agreement ranging from ?5.81 to 9.23?mmol/L. We propose that the Horiba C-122 is sufficiently reliable to be used under field conditions where some degree of imprecision is acceptable, but not for research purposes where high accuracy is required.     

Spasticity in a child with myelomeningocele treated with continuous intrathecal baclofen

Patients with myelomeningocele may often suffer from severe spasticity. Surgical treatment of the underlying pathology such as hydromyelia and tethered cord may be successful, but failures are not uncommon. Those cases may offer a surgical challenge since further therapeutic options are limited. We present the case of a 7-year-old boy with myelomeningocele and related conditions suffering from severe spasticity and pain in his lower limbs. Surgical efforts with untethering and posterior fossa decompression failed to improve the symptoms. A test with 25 microg intrathecally delivered baclofen showed a total relief of spasticity and pain so that a pump for continuous baclofen delivery was implanted. During 32 months of follow-up, his spasticity has been under excellent control on 55-157 microg baclofen per day. Continuous delivery of intrathecal baclofen may be a surgical option to consider in patients with myelomeningocele and severe spasticity.     

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

In routine prenatal diagnostics we used a commercial multiplex ligation-dependent probe amplification (MLPA) kit for aneuploidy screening for chromosomes 13, 18, 21, X and Y. We present the results of 1593 consecutive prenatal samples analysed and diagnosed prior to knowledge of the G-banding analysis during 8-month routine use of computer-assisted MLPA aneuploidy screening. In total, 27 aneuploidies were detected. There were no false positive results while two false negative results could be explained by a placental mosaicism and a partial monosomy, respectively. In total, 3.2% of the samples were inconclusive. We conclude that automatic computer assisted MLPA is a rapid, simple and reliable method for detection of aneuploidies in prenatal diagnostics.