Infectious aspects and the etiopathogenesis of rheumatoid arthritis

Infections are believed to contribute to the maturation of the immune system from the innate to the adaptive phases and therefore may take part in the induction of autoimmune conditions. In the current study, we present an extensive analysis conducted on sera samples of patients with rheumatoid arthritis in order to seek evidence of previous or coexisting infectious processes using the Bio-Rad BioPlex immunoassay analyzer. We detected higher rates of serological evidence of infections with Epstein–Barr virus and cytomegalovirus viruses. Our findings may indicate a role of these viruses in the pathogenesis of RA.

Cytomegalovirus: Educational outcomes and implications for newborn screening

The focus of this study was to review existing literature and analyze a survey of professional opinion regarding how children with hearing loss caused by congenital cytomegalovirus (CMV) function audiologically and educationally. This study proposes a benefit for adding CMV screening to the battery of tests included in the newborn screening protocol to improve educational outcomes of children deafened from CMV.

Proceedings of the Ninth Annual Conference of the British Association for Biological Anthropology and Osteoarchaeology, Department of Archaeology, University of Reading

The Proceedings of the Ninth Annual Conference of the British Association for Biological Anthropology and Osteoarchaeology (BABAO) held at the University of Reading in 2007. Contents: 1) A life course perspective of growing up in medieval London: evidence of sub-adult health from St Mary Spital (London) (Rebecca Redfern and Don Walker); 2) Preservation of non-adult long bones from an almshouse cemetery in the United States dating to the late nineteenth to the early twentieth centuries (Colleen Milligan, Jessica Zotcavage and Norman Sullivan); 3) Childhood oral health: dental palaeopathology of Kellis 2, Dakhleh, Egypt. A preliminary investigation (Stephanie Shukrum and JE Molto); 4) Skeletal manifestation of non-adult scurvy from early medieval Northumbria: the Black Gate cemetery, Newcastle-upon-Tyne (Diana Mahoney-Swales and Pia Nystrom); 5) Infantile cortical hyperostosis: cases, causes and contradictions (Mary Lewis and Rebecca Gowland); 6) Biological Anthropology Tuberculosis of the hip in the Victorian Britain (Benjamin Clarke and Piers Mitchell); 7) The re-analysis of Iron Age human skeletal material from Winnall Down (Justine Tracey); 8) Can we estimate post-mortem interval from an individual body part? A field study using sus scrofa (Branka Franicevec and Robert Pastor); 9) The expression of asymmetry in hand bones from the medieval cemetery at Écija, Spain (Lisa Cashmore and Sonia Zakrezewski); 10) Returning remains: a curator’s view (Quinton Carroll); 11) Authority and decision making over British human remains: issues and challenges (Piotr Bienkowski and Malcolm Chapman); 12) Ethical dimensions of reburial, retention and repatriation of archaeological human remains: a British perspective (Simon Mays and Martin Smith); 13) The problem of provenace: inaccuracies, changes and misconceptions (Margaret Clegg); 14) Native American human remains in UK collections: implications of NAGPRA to consultation, repatriation, and policy development (Myra J Giesen); 15) Repatriation – a view from the receiving end: New Zealand (Nancy Tayles).

Can misalignments in typical infants be used as a model for infantile esotropia?

PURPOSE. To investigate the nature of early ocular misalignments in human infants to determine whether they can provide insight into the etiology of esotropia and, in particular, to examine the correlates of misalignments. METHODS. A remote haploscopic photorefraction system was used to measure accommodation and vergence in 146 infants between 0 and 12 months of age. Infants underwent photorefraction immediately after watching a target moving between two of five viewing distances (25, 33, 50, 100, and 200 cm). In some instances, infants were tested in two conditions: both eyes open and one eye occluded. The resultant data were screened for instances of large misalignments. Data were assessed to determine whether accommodative, retinal disparity, or other cues were associated with the occurrence of misalignments. RESULTS. The results showed that there was no correlation between accommodative behavior and misalignments. Infants were more likely to show misalignments when retinal disparity cues were removed through occlusion. They were also more likely to show misalignments immediately after the target moved from a near to a far position in comparison to far-to-near target movement. DISCUSSION. The data suggest that the prevalence of misalignments in infants of 2 to 3 months of age is decreased by the addition of retinal disparity cues to the stimulus. In addition, target movement away from the infant increases the prevalence of misalignments. These data are compatible with the notion that misalignment are caused by poor sensitivity to targets moving away from the infant and support the theory that some forms of strabismus could be related to failure in a system that is sensitive to the direction of motion.

Differences in the activity of the muscles in the forearm of individuals with a congenital absence of the hand

The spectral content of the myoelectric signals from the muscles of the remnant forearms of three persons with congenital absences (CA) of their forearms was compared with signals from their intact contra-lateral limbs, similar muscles in three persons with acquired losses (AL) and seven persons without absences [no loss (NL)]. The observed bandwidth for the CA subjects was broader with peak energy between 200 and 300 Hz. While the signals from the contra-lateral limbs and the AL and NL subjects was in the 100-150 Hz range: The mean skew of the signals from the AL subjects was 46.3 +/- 6.7 and those with NL of 45.4 +/- 8.7, while the signals from those with CAs had a skew of 11.0 +/- 11. The structure of the muscles of one CA subject was observed ultrasonically. The muscle showed greater disruption than normally developed muscles. It is speculated that the myographic signal reflects the structure of the muscle. which has developed in a more disorganized manner as a result of the muscle not being stretched by other muscles across the missing distal joint, even in the muscles that are used regularly to control arm prostheses.

Method of plant tissue culture and regeneration

Plants may be regenerated from stomatal cells or protoplasts of such cells. Prior to regeneration the cells or protoplasts may be genetically transformed by the introduction of hereditary material most preferably by a DNA construct which is free of genes which specify resistance to antibiotics. The regeneration step may include callus formation on a hormone-free medium. The method is particularly suitable for sugar beet.

Independent and reciprocal accommodation in anisometropic amblyopia

Accommodation is considered to be a symmetrical response and to be driven by the least ametropic and nonamblyopic eye in anisometropia. We report the case of a 4-year-old child with anisometropic amblyopia who accommodates asymmetrically, reliably demonstrating normal accommodation in the nonamblyopic eye and antiaccommodation of the amblyopic eye to near targets. The abnormal accommodation of the amblyopic eye remained largely unchanged during 7 subsequent testing sessions undertaken over the course of therapy. We suggest that a congenital dysinnervation syndrome may result in relaxation of accommodation in relation to near cues and might be a hitherto unconsidered additional etiological factor in anisometropic amblyopia.

Phenotypic and genotypic characterization of avian Escherichia coli O86:K61 isolates possessing a gamma-like intimin

Escherichia coli O86:K61 has long been associated with outbreaks of infantile diarrhea in humans and with diarrheal disease in many animal species. Studies in the late 1990s identified E. coli 086:K61 as the cause of mortality in a variety of wild birds, and in this study, 34 E. coli 086:K61 isolates were examined. All of the isolates were nonmotile, but most elaborated at least two morphologically distinct surface appendages that were confirmed to be type I and curli fimbriae. Thirty-three isolates were positive for the eaeA gene encoding a gamma type of intimin. No phenotypic or genotypic evidence was obtained for elaboration of Shiga-like toxins, but most isolates possessed the gene coding for the cytolethal distending toxin. Five isolates were selected for adherence assays performed with tissue explants and HEp-2 cells, and four of these strains produced attaching and effacing lesions on HEp-2 cells and invaded the cells, as determined by transmission electron microscopy. Two of the five isolates were inoculated orally into 1-day-old specific-pathogen-free chicks, and both of these isolates colonized, invaded, and persisted well in this model. Neither isolate produced attaching and effacing lesions in chicks, although some pathology was evident in the alimentary tract. No deaths were recorded in inoculated chicks. These findings are discussed in light of the possibility that wild birds are potential zoonotic reservoirs of attaching and effacing E. coli.

Children of the golden minster: St. Oswald's Priory and the impact of industrialisation on child health.

This study explores the disease experience of children buried within the cemetery of St. Oswald’s Priory, Gloucester from AD1153 to 1857. Evidence for ages-at-death, infant mortality, and the prevalence of stress indicators, trauma, and pathology were compared between the early and postmedieval periods. The skeletal remains of these children provide evidence for child health spanning the economic expansion of Gloucester at St. Oswald’s, from a mostly rural parish to a graveyard catering for families from the poorer northern part of the town and the workhouse. Results showed that the children from the postmedieval period in Gloucester suffered higher rates of dental caries (38%) and congenital conditions (17.3%) than their counterparts from the early and later medieval period. This paper serves to highlight the value of nonadult skeletal material in the interpretation of past human health in transitional societies and illustrates the wide variety of pathological conditions that can be observed in nonadult skeletons.

Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle

Myostatin (Mstn) participates in the regulation of skeletal muscle size and has emerged as a regulator of muscle metabolism. Here, we hypothesized that lack of myostatin profoundly depresses oxidative phosphorylation-dependent muscle function. Toward this end, we explored Mstn/ mice as a model for the constitutive absence of myostatin and AAV-mediated overexpression of myostatin propeptide as a model of myostatin blockade in adult wild-type mice. We show that muscles from Mstn/ mice, although larger and stronger, fatigue extremely rapidly. Myostatin deficiency shifts muscle from aerobic toward anaerobic energy metabolism, as evidenced by decreased mitochondrial respiration, reduced expression of PPAR transcriptional regulators, increased enolase activity, and exercise-induced lactic acidosis. As a consequence, constitutively reduced myostatin signaling diminishes exercise capacity, while the hypermuscular state of Mstn/ mice increases oxygen consumption and the energy cost of running. We wondered whether these results are the mere consequence of the congenital fiber-type switch toward a glycolytic phenotype of constitutive Mstn/ mice. Hence, we overexpressed myostatin propeptide in adult mice, which did not affect fiber-type distribution, while nonetheless causing increased muscle fatigability, diminished exercise capacity, and decreased Pparb/d and Pgc1a expression. In conclusion, our results suggest that myostatin endows skeletal muscle with high oxidative capacity and low fatigability, thus regulating the delicate balance between muscle mass, muscle force, energy metabolism, and endurance capacity.

22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients

Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.

Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects

Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping minimal critical regions associated with particular patterns of clinical features. We report here on four patients sharing common clinical features (psychomotor retardation, coarse facies and ocular anomalies), with proximal 5q deletions identified by oligo array-CGH. The deletions range from 5.75 to 17.26-Mb in size and occurred de novo. A common 2.63-Mb region between the deletions described here can be defined in 5q12.1 (59,390,122-62,021,754 bp bp from 5pter, hg18) and includes 12 genes. Among them, KIF2A, which encodes a kinesin superfamily protein, is a particularly interesting candidate for the phenotype, as it suppresses the growth of axonal collateral branches and is involved in normal brain development. Ocular defects, albeit unspecific, seem to be common in the 5q12.1 deletion. Identification of additional cases of deletions involving the 5q12.1 region will allow more accurate genotype-phenotype correlations. (C) 2011 Wiley-Liss, Inc.

Role of the Mitochondrial Mutations, m. 827A > G and the Novel m. 7462C > T, in the Origin of Hearing Loss

Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial genes MT-RNR1 and MT-TS1. Patients with mutation m. 1555A>G had been previously excluded from this sample. In the MT-RNR1 gene, five probands presented the m. 827A>G sequence variant, of uncertain pathogenicity. This change was also detected in 66 subjects of an unaffected control sample of 306 Brazilian individuals from various ethnic backgrounds. Given its high frequency, we consider it unlikely to have a pathogenic role on hereditary deafness. As to the MT-TS1 gene, one proband presented the previously known pathogenic m. 7472insC mutation and three probands presented a novel variant, m. 7462C>T, which was absent from the same control sample of 306 individuals. Because of its absence in control samples and association with a family history of hearing impairment, we suggest it might be a novel pathogenic mutation.