Prenatal exclusion of duchenne muscular dystrophy by fetal muscle biopsy

A fetal thigh muscle biopsy was performed at 18 weeks and 6 days' gestation using an automatic 18-gauge biopsy needle. A positive immunoreaction with antisera to the amino- and carboxy-terminals of dystrophin excluded Duchenne muscular dystrophy from this at-risk male.     

Assessment of Physical Load at Work Sites: A Finnish–German Concept

The aim of this article is to introduce a set of work physiology methods for the assessment of physical load at the work site and to consider (a) their relevance for different types of muscular work, and (b) their feasibility for occupational health and safety practitioners. The results of an ergonomic intervention study for the reduction of workload associated with various manual materials handling tasks were used for the evaluation of the feasibility and sensitivity of the measurements of heart rate, the Edholm and OWAS methods, and the ratings of overall and local perceived exertion. The methods proved feasible, although time consuming, and their sensitivity for the quantification of small changes in physical workload was limited. Despite these shortcomings, these methods can be used by occupational health and safety practitioners when their strategy and data collection techniques are developed further. In conclusion, there are relevant and feasible methods fora reliable work-site assessment of cardiorespiratory and postural load related to the activation of large muscle masses. On the other hand, field methods for the quantification of local static workload and repetitive type of workload with small muscle masses are scarce.     

Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene

Spinal muscular atrophy (SMA) preimplantation genetic diagnosis (PGD) has been available since 1998. Protocols are based on the detection of the homozygous deletion of exon 7, which are present in 90–98% of SMA patients. A couple where the woman was a heterozygous carrier of the usual SMN1 Del7 mutation and the man was a heterozygous carrier of pMet263Arg substitution in exon 6 of SMN1 gene was referred for PGD. The usual PGD test being unsuitable for this couple, we developed a novel duplex polymerase chain reaction (PCR)-based PGD test for the detection of the mutation pMet263Arg by allele specific amplification, combined with the amplification of D5S641 extragenic polymorphic marker. PCR conditions were established using single control lymphoblasts and lymphocytes from the pMet263Arg substitution carrier. Amplification was obtained in 100% of the 86 single cells tested, amplification refractory mutation system (ARMS) PCR was specific in 100% of single cells tested and a complete genotype (mutation plus D5S641) was achieved in 88% of them. A PGD cycle was performed successfully and a pregnancy was obtained. An unaffected girl was born and postnatal diagnosis confirmed PGD results. This is the first PGD described for SMA because of another mutation than the major homozygous exon 7 deletion of SMN1. In the future, a similar strategy could be adopted for other subtle mutations of this gene. Copyright © 2006 John Wiley & Sons, Ltd.     

Duchenne muscular dystrophy associated with fetal pleural effusion and polyhydramnios

A case of fetal pleural effusion in a fetus affected with Duchenne muscular dystrophy (DMD) is reported. This case is discussed in the context of the previous observation of frequent stillbirths among male fetuses in DMD families.     

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

Twenty-five pregnancies at risk for spinal muscular atrophy I (SMA I) have been monitored by first-trimester prenatal diagnosis. Microsatellite markers were used in all cases to amplify polymorphic regions at the D5S125, D5S435, D5S39, D5S127, and D5S112 loci. All families, including 12 SMA I pedigrees with a deceased index child, were fully informative for DNA analysis. Three fetuses were predicted to be affected and 22 fetuses were predicted to be unaffected. Twenty-two newborns were unaffected by clinical examination at birth. These results support the accuracy of SMA I prenatal diagnosis based on linkage analysis.     

DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis

We report on the prenatal diagnosis of congenital myotonic dystrophy in a case of nonimmune hydrops fetalis. DNA analysis of amniocytes revealed expansion of the trinucleotide (CTG) repeat within the myotonin PK gene, associated with myotonic dystrophy. The fetus was found to have approximately 1730 copies, while the normal population has between 5 and 27 copies, and minimally affected individuals have at least 50 copies.     

Identification of duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Msp1 polymorphisms

The majority of Duchenne and Becker muscular dystrophy cases are caused by deletions observable in Southern blots with cDNA probes for the gene. When the deletion includes polymorphic probes, they may be used to determine carrier status by deletion segregation analysis: non-inheritance of parental alleles, or heterozygosity. The polymorphic genomic probe P20 is deleted in a large percentage of probands. P20 hybridizes with two constant fragments of 6.7 and 0.8 kb in Taql digests. In a number of probands, only the larger P20 Taq1 fragment is deleted. This study demonstrates that this fragment corresponds with the polymorphic EcoRV and Mspl fragments of P20. Families in which the upper Taql fragment is deleted may be screened for carrier status using non-inheritance of parental alleles or heterozygosity of P20 in EcoRV or Mspl digests.     

Characteristics of Muscular Load in Computer Data Entry Workers Assessed by EMG and Postural Angles

The goal of this study was to characterize the muscular load in computer data entry workers. Electromyography (EMG) parameters of trapezius muscle and postural angles of head, arm, and back were chosen as indicators of musculoskeletal load. The examination was done according to the methods and protocol of international MEPS studies (the “Musculoskeletal, Visual, and Psychosocial Load in VDT [Video Display Terminal] Operators in Optimized Environment” international program). The musculoskeletal load during routine VDT data entry work performed by a group of 36 women was assessed on the basis of 1-hr physiometer recordings. Results show that the musculoskeletal load associated with data entry is relatively high compared to other VDT operators’ tasks described in the literature. An analysis of the measured parameters shows that most of the time women worked with a muscular load higher than optimal. It is postulated that the main reason for the heavy musculoskeletal load was improper posture compelled by unergonomic spatial configuration of work stands.     

Prenatal activity of a fetus with early-onset,severe spinal muscular atrophy

A case of early-onset, severe spinal muscular atrophy is reported. Normal fetal breathing movement patterns and heart rate accelerations were observed in spite of the severe hypotonia evident at birth.