Ultrasound evaluation in combination with finger extension force measurements of the forearm musculus extensor digitorum communis in healthy subjects

<p>Abstract</p> <p>Background</p> <p>The aim of this study was to evaluate the usefulness of an ultrasound-based method of examining extensor muscle architecture, especially the parameters important for force development. This paper presents the combination of two non-invasive methods for studying the extensor muscle architecture using ultrasound simultaneously with finger extension force measurements.</p> <p>Methods</p> <p>M. extensor digitorum communis (EDC) was examined in 40 healthy subjects, 20 women and 20 men, aged 35–73 years. Ultrasound measurements were made in a relaxed position of the hand as well as in full contraction. Muscle cross-sectional area (CSA), pennation angle and contraction patterns were measured with ultrasound, and muscle volume and fascicle length were also estimated. Finger extension force was measured using a newly developed finger force measurement device.</p> <p>Results</p> <p>The following muscle parameters were determined: CSA, circumference, thickness, pennation angles and changes in shape of the muscle CSA. The mean EDC volume in men was 28.3 cm³and in women 16.6 cm³. The mean CSA was 2.54 cm²for men and 1.84 cm²for women. The mean pennation angle for men was 6.5° and for women 5.5°. The mean muscle thickness for men was 1.2 cm and for women 0.76 cm. The mean fascicle length for men was 7.3 cm and for women 5.0 cm. Significant differences were found between men and women regarding EDC volume (p < 0.001), CSA (p < 0.001), pennation angle (p < 0.05), muscle thickness (p < 0.001), fascicle length (p < 0.001) and finger force (p < 0.001). Changes in the shape of muscle architecture during contraction were more pronounced in men than women (p < 0.01). The mean finger extension force for men was 96.7 N and for women 39.6 N. Muscle parameters related to the extension force differed between men and women. For men the muscle volume and muscle CSA were related to extension force, while for women muscle thickness was related to the extension force.</p> <p>Conclusion</p> <p>Ultrasound is a useful tool for studying muscle architectures in EDC. Muscle parameters of importance for force development were identified. Knowledge concerning the correlation between muscle dynamics and force is of importance for the development of new hand training programmes and rehabilitation after surgery.</p

Maternal and neonatal factors associated with mode of delivery under a universal newborn hearing screening programme in Lagos, Nigeria

<p>Abstract</p> <p>Background</p> <p>Emerging evidence from a recent pilot universal newborn hearing screening (UNHS) programme suggests that the burden of obstetric complications associated with mode of delivery is not limited to maternal and perinatal mortality but may also include outcomes that undermine optimal early childhood development of the surviving newborns. However, the potential pathways for this association have not been reported particularly in the context of a resource-poor setting. This study therefore set out to establish the pattern of delivery and the associated neonatal outcomes under a UNHS programme.</p> <p>Methods</p> <p>A cross-sectional study in which all consenting mothers who delivered in an inner-city tertiary maternity hospital in Lagos, Nigeria from May 2005 to December 2007 were enrolled during the UNHS programme. Socio-demographic, obstetric and neonatal factors independently associated with vaginal, elective and emergency caesarean deliveries were determined using multinomial logistic regression analyses.</p> <p>Results</p> <p>Of the 4615 mothers enrolled, 2584 (56.0%) deliveries were vaginal, 1590 (34.4%) emergency caesarean and 441 (9.6%) elective caesarean section. Maternal age, parity, social class and all obstetric factors including lack of antenatal care, maternal HIV and multiple gestations were associated with increased risk of emergency caesarean delivery compared with vaginal delivery. Only parity, lack of antenatal care and prolonged/obstructed labour were associated with increased risk of emergency compared with elective caesarean delivery. Infants delivered by vaginal method or by emergency caesarean section were more likely to be associated with the risk of sensorineural hearing loss but less likely to be associated with hyperbilirubinaemia compared with infants delivered by elective caesarean section. Emergency caesarean delivery was also associated with male gender, low five-minute Apgar scores and admission into special care baby unit compared with vaginal or elective caesarean delivery.</p> <p>Conclusions</p> <p>The vast majority of caesarean delivery in this population occur as emergencies and are associated with socio-demographic factors as well as several obstetric complications. Mode of delivery is also associated with the risk of sensorineural hearing loss and other adverse birth outcomes that lie on the causal pathways for potential developmental deficits.</p

Germline selection shapes human mitochondrial DNA diversity.

Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.1% of individuals from 1526 mother-offspring pairs harbor a mixed population of mtDNA (heteroplasmy), but the propensity for maternal transmission differs across the mitochondrial genome. Over one generation, we observed selection both for and against variants in specific genomic regions; known variants were more likely to be transmitted than previously unknown variants. However, new heteroplasmies were more likely to match the nuclear genetic ancestry as opposed to the ancestry of the mitochondrial genome on which the mutations occurred, validating our findings in 40,325 individuals. Thus, human mtDNA at the population level is shaped by selective forces within the female germ line under nuclear genetic control, which ensures consistency between the two independent genetic lineages.NIHR, Wellcome Trust, MRC, Genomics Englan

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. METHODS: We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis. RESULTS: Diagnostic yields varied among family structures and were highest in family trios (both parents and a proband) and families with larger pedigrees. Diagnostic yields were much higher for disorders likely to have a monogenic cause (35%) than for disorders likely to have a complex cause (11%). Diagnostic yields for intellectual disability, hearing disorders, and vision disorders ranged from 40 to 55%. We made genetic diagnoses in 25% of the probands. A total of 14% of the diagnoses were made by means of the combination of research and automated approaches, which was critical for cases in which we found etiologic noncoding, structural, and mitochondrial genome variants and coding variants poorly covered by exome sequencing. Cohortwide burden testing across 57,000 genomes enabled the discovery of three new disease genes and 19 new associations. Of the genetic diagnoses that we made, 25% had immediate ramifications for clinical decision making for the patients or their relatives. CONCLUSIONS: Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (Funded by the National Institute for Health Research and others.)