Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders – Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders. Nerve conduction studies revealed demyelinating peripheral neuropathy. Electromyography showed a profound myogenic pattern. The serum creatine kinase level was highly elevated. Muscle biopsy revealed a dystrophic picture with deficient dystrophin immunostaining. CMT1A duplication on chromosome 17p11.2 was found. The frame-shift mutation c.3609–3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene by analysing mRNA isolated from the muscle tissue. The patient inherited both these mutations from his mother. The combination of CMT1A and DMD has not been reported as yet.     

Polymerization of lactams, 88. Copolymers poly(ϵ-caprolactam)-block-polybutadiene prepared by anionic polymerization,part III. Model polymerizations initiated with potassium salt of ϵ-caprolactam and accelerated with isocyanates and their derivatives

Anionic polymerization of ?-caprolactam was initiated with the potassium salt of ?-caprolactam and accelerated with phenyl isocyanate, toluylene diisocyanate, 4,4′-diphenylmethane diisocyanate, some derivatives of these isocyanates (urethanes, ureas, and allophanates), or combinations of phenyl isocyanate with its derivatives at 150°C. The effect of individual structures on the polymerization kinetics and their contribution to the preparation of block copolymers of ?-caprolactam with hydroxy-terminated prepolymers, in-situ functionalized with diisocyanates, are discussed on the basis of a detailed analysis of time functions of polymer yield and degree of polymerization.     

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

Charcot-Marie-Tooth (CMT) disease is a heterogeneous disorder of the peripheral nervous system that collectively affects approximately 1 in 2,500 individuals, thus making it the most common inherited neurologic disorder. X-linked inheritance may account for 10–20 % of CMT neuropathy. We report a Czech family with a 30-year-old woman affected by CMT since the age of 10 years, originally as an isolated case. Nerve conduction study (NCS) showed demyelinating neuropathy, and DNA testing revealed a novel heterozygous gap junction beta-1 protein (GJB1) mutation c.784_786delTA. The same mutation, but surprisingly in heterozygous state, was subsequently found in her subjectively healthy father and later also in one of her sisters but not in her two other sisters. NCS showed intermediate type of motor and sensory neuropathy in these two females manifesting heterozygotes and normal results in the other healthy sisters and one brother, all without the c.784_786delTA mutation. The father has a phenotype milder than his daughter and has only subclinical signs of CMT. The index female patient had normal karyotype 46, XX, and normal FISH for centromeric X chromosome. We concluded that the proband’s father is a heterozygote due to the somatic mosaicism for the GJB1 mutation in his leukocytes (detected by DNA sequencing) and also in his germ cells as confirmed by the unexpectedly different genotypes in his four daughters. Quantitative analysis revealed a mutated signal in 25:75 allele proportion of mutated to healthy allele in the mosaic father. This study has important consequences for genetic counseling and prognosis in CMTX1 families.     

Pulmonary arterial hypertension associated with systemic sclerosis in the Czech Republic

Background  

Systemic sclerosis (SSc) is an important cause of pulmonary arterial hypertension (PAH), with an estimated prevalence of 7.85–26.7%.     

Patterns of surface temperatures in two mole-rats (Bathyergidae) with different social systems as revealed by IR-thermography

Furred subterranean mammals face the problem of dissipating heat to the environment because high humidity and absence of air flow in sealed belowground tunnels constrain heat loss from body by convection and evaporation. In order to detect body areas responsible for heat loss, surface temperatures in two species of African mole-rats were measured at different ambient air temperatures by infrared thermography. Fur characteristics were also evaluated. Thinner pelage of the ventrum, its moderate temperature and large size suggest that ventral side of the body is the main thermal avenue for heat loss in both species. Interspecific differences could be explained by different fur characteristics connected with social thermoregulation. Compared to the social Fukomys mechowii, the solitary Heliophobius argenteocinereus has denser and longer fur on most of its body; its surface temperature was thus lower than in F. mechowii at lowered ambient temperatures. On the other hand, the denser and longer hair cover in H. argenteocinereus impedes heat dissipation at highest ambient temperatures (and probably also during digging activity) resulting in increase of core body temperature. H. argenteocinereus seems to be more sensitive to overheating than F. mechowii. At lower air temperatures, the social species may uses huddling to combat hypothermia.     

Monotonic Tension-Torsion Experiments and FE Modeling on Notched Specimens Produced by SLM Technology from SS316L

The aim of this work was to monitor the mechanical behavior of 316L stainless steel produced by 3D printing in the vertical direction. The material was tested in the “as printed” state. Digital Image Correlation measurements were used for 4 types of notched specimens. The behavior of these specimens under monotonic loading was investigated in two loading paths: tension and torsion. Based on the experimental data, two yield criteria were used in the finite element analyses. Von Mises criterion and Hill criterion were applied, together with the nonlinear isotropic hardening rule of Voce. Subsequently, the load-deformation responses of simulations and experiments were compared. Results of the Hill criterion show better correlation with experimental data. The numerical study shows that taking into account the difference in yield stress in the horizontal direction of printing plays a crucial role for modeling of notched geometries loaded in the vertical direction of printing. Ductility of 3D printed specimens in the “as printed” state is also compared with 3D printed machined specimens and specimens produced by conventional methods. “As printed” specimens have 2/3 lower ductility than specimens produced by a conventional production method. Machining of “as printed” specimens does not affect the yield stress, but a significant reduction of ductility was observed due to microcracks arising from the pores as a microscopic surface study showed.