Ophthalmic findings in dyslexic schoolchildren.

The ophthalmic findings of 55 dyslexic 12 to 13-year-old Finnish schoolchildren and 50 age, sex, and social class-matched control children were evaluated. On a neuropsychological basis the children could be divided into six subgroups: general deficiency, general language, visuomotor, naming, mixed, and normal. The two groups did not differ significantly from each other in visual acuity, cycloplegic refraction, the amount of phorias and tropias, stereo acuity, fusion, or accommodation. Convergence near point > or = 8 cm was, however, statistically more frequent in the dyslexic group. This finding was also significant in the general deficiency subgroup compared with the other subgroups. The most conspicuous common denominator in those with dyslexia was revealed to be the convergence insufficiency type of exodeviation, occurring in 38% of the general deficiency dyslexic subgroup and in 36% of the visuomotor dyslexic subgroup. This finding suggests a low accommodative convergence/accommodation ratio in these children.     

Arginine depletion in macrophage medium inhibits collagen synthesis by fibroblasts

In the present work we demonstrate that non-activated, cultured rat peritoneal macrophages deplete arginine from their culture medium and that the use of this medium in fibroblast cultures may lead to decreased synthesis of collagen by fibroblasts.     

Preoperative and Postoperative Response to Inhaled Nitric Oxide

The preoperative dose response to inhaled nitric oxide (NO) was compared with the need for and response to NO after cardiac surgery in patients with congenital heart defect and secondary pulmonary hypertension. In a preoperative vasodilator test with inhaled NO 20, 40 and 80 ppm and oxygen, mean pulmonary artery pressure (PAP) was at least 40 mmHg and/or the pulmonary vascular resistance index (PVRI) 4 Wood units. Preoperatively, NO 40 ppm and Fi0₂ 0.9 reduced systolic pulmonary/systemic arterial pressure (PAPs/SAPs) from 0.89 (SD 0.10) to 0.80 (0.18) and pulmonary/systemic vascular resistance (PVR/SVR) from 0.26 (0.13) to 0.13 (0.08). Haemodynamic assessment was repeated in 11 patients postoperatively. NO treatment was started if PAPs/SAPs rose to 0.8 or the pulmonary oximetry fell below 40%. Postoperatively, eight of 11 patients, including 6 patients with Down's syndrome, needed NO. PAPs/SAPs decreased more than preoperatively: 48.5% vs 11.2, p = 0.0045. Pulmonary oximetry increased by 15.7%, p = 0.02. The degree of preoperative response to NO did not differ between the patients with postoperative pulmonary hypertension and the other children. Patients with early pulmonary hypertensive crisis (first 24 h; n = 6) had a higher PVRI (7.6 vs 4.4 Um²; p = 0.003) and PVR/SVR (0.34 VS 0.17; p = 0.02) preoperatively. Two patients died in pulmonary hypertensive crisis.     

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

One of the genetically distinct collagens (type III) normally found in skin, aorta, and intestine is missing from the tissues of patients with the Ehlers-Danlos syndrome type IV. While skin fibroblasts from other individuals synthesize both types I and III collagen. Ehlers-Danlos syndrome IV cells synthesize only type I. These results suggest that the fragile skin, blood vessels, and intestines of Ehlers-Danlos syndrome IV patients result from an absence of type III collagen.     

Development of peritoneal fibrosis occurs under the mesothelial cell layer

This study was carried out in order to find out which part of the peritoneal wall reacts toward silica and produces peritoneal fibrosis. Colloidal silica was injected into the peritoneal cavity of rats to induce chemical peritonitis and frozen sections of the peritoneal wall were stained with specific antibodies toward type I and III collagens and fibronectin. A massive proliferation of granulation tissue was observed between the submesothelial and muscular layers within 48 hr visualized by prominent fibronectin staining. Type III collagen formed lamellar-like structures in the newly formed granulation tissue. The connective tissue reaction was extended into the underlying muscular tissue. Three weeks after silica injection the reactive granulation tissue exceeded the original peritoneum three- to fourfold in thickness. At this stage it contained extended fibrillar structures oriented perpendicular to the surface or muscular layers of the peritoneum. Type I collagen antibody was bound to the superficial cell layer in the control samples and in the early peritonitis whereas the entire granulation tissue was evenly stained at 3 weeks. Type III collagen antibody was bound to the surface layer of the peritoneum, granulation tissue, and perimysial connective tissue throughout the healing period. The results indicate that the peritoneal fibrotic process occurs under the thin peritoneal lining cell layer and on the surface of the muscle layer.     

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

Background

Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, plays an important role in ASD risk, recent studies also support a rare recessive contribution.

Methods

We identified a compound heterozygous deletion intersecting the CTNNA3 gene, encoding αT-catenin, in a proband with ASD and moderate intellectual disability. The deletion breakpoints were mapped at base-pair resolution, and segregation analysis was performed. We compared the frequency of CTNNA3 exonic deletions in 2,147 ASD cases from the Autism Genome Project (AGP) study versus the frequency in 6,639 controls. Western blot analysis was performed to get a quantitative characterisation of Ctnna3 expression during early brain development in mouse.

Results

The CTNNA3 compound heterozygous deletion includes a coding exon, leading to a putative frameshift and premature stop codon. Segregation analysis in the family showed that the unaffected sister is heterozygote for the deletion, having only inherited the paternal deletion. While the frequency of CTNNA3 exonic deletions is not significantly different between ASD cases and controls, no homozygous or compound heterozygous exonic deletions were found in a sample of over 6,000 controls. Expression analysis of Ctnna3 in the mouse cortex and hippocampus (P0-P90) provided support for its role in the early stage of brain development.

Conclusion

The finding of a rare compound heterozygous CTNNA3 exonic deletion segregating with ASD, the absence of CTNNA3 homozygous exonic deletions in controls and the high expression of Ctnna3 in both brain areas analysed implicate CTNNA3 in ASD susceptibility.     

Randomized Controlled Trial of Back School With and Without Peer Support

The aim of this trial was to determine whether social interaction between patients with long-lasting nonspecific back pain reduces subjective or objective disability. The participants were selected from persons visiting an occupational health care unit because of back pain. After a clinical examination in a university clinic, subjects without a specific diagnosis and having no disabilities preventing active rehabilitation were selected for study. The subjects (n = 108) were randomized into treatment (n = 54) and control groups (n = 54). Altogether 18 study groups, 9 treatment groups and 9 groups for controls, were formed. Before starting the back schools altogether 15 subjects dropped out. Both the treatment groups (n = 47) and the controls (n = 46) attended a back school consisting of 10 lessons and demonstrations supervised by a physiotherapist. The participants in treatment groups, but not the controls, had physical exercise and social intercourse with other members within the group. The clinical examination was repeated after 6 and 12 months. Both the treatment groups and the controls showed improvement in perceived functional capacity (assessed with Oswestry disability questionnaire) and in perceived life quality (assessed with 15D score). At the 6-month follow-up life quality had improved statistically significantly more among the participants in treatment groups than among the controls, and at the 12-month follow-up the Oswestry index showed corresponding improvement. Among subjects suffering from nonspecific back pain, social support improves the results of active rehabilitation.     

Intravaginal surface EMG probe design test for urinary incontinence patients

Pelvic floor training is a well-established treatment for female urinary stress incontinence The purpose of this study was to test four different intravaginal surface electromyography (EMG) probes for biofeedback exercise and measurements. The study design was a comparison test. The study was accomplished in a referral on outpatient clinic. Participants were 9 urinary incontinent patients sent to physiotherapist for pelvic floor muscle exercise and 2 asymptomatic volunteers. The participants were asked to do pelvic floor contractions in supine position. The EMG activity of pelvic floor muscles was measured with four different types of intravaginal probes, and rectal pressure was measured simultaneously with a microtip catheter for controlling the pelvic floor muscle contraction force levels. Main outcome measure was the electrical activity of pelvic floor muscle contractions. The intraprobe correlation coefficients for comparing subsequent measurements ranged from 0.84-0.97, indicating adequate reliability. The results were affected by the location of the measuring electrodes, and the shape and size of the probes. No statistically significant differences were found between different probes. The compliance was best with L- shaped probe B and it gave highest mean EMG values so it was chosen for M- further development as a biofeedback-based home training system.