Myotonic dystrophy type 1 presenting with dyspnea: A case report.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is a genetic neuromuscular disease involving multiple systems, especially the cardiopulmonary system. The clinical phenotype of DM1 patients is highly variable, which limits early diagnosis and treatment. In the present study, we reported a 35-year-old female DM1 patient with dyspnea as the primary onset clinical manifestation, analyzed her family's medical history, and reviewed related literature. CASE SUMMARY: A 35-year-old woman was admitted to the hospital with dyspnea of 1 mo duration, and sleep apnea for 3 d. Her respiratory pattern and effort were normal, but limb muscle tension was low. Investigation into the patient's medical history revealed that she might have hereditary neuromuscular disease. Electromyography showed that her myotonia potentials were visible in the resting state of the examined muscles, with decreased motor unit potential time limit and amplitude. Genetic testing for DM1 revealed that the cytosine-thymine-guanine (CTG) repeat number of the DMPK gene exceeded 50, while cytosine-CTG expansion in intron 1 of ZNF9 gene was < 30 repeats. The patient was diagnosed with DM1. CONCLUSION: DM1 is a genetic neuromuscular disease involving multiple systems, and the clinical phenotype in DM1 is extremely variable. Some patients with DM1 may be presented at the respiratory department because of dyspnea, which should be cautioned by the pulmonologists. There may be no obvious or specific symptoms in the early stage of disease, and clinicians should improve their understanding of DM1 and make an early diagnosis, which will improve patients' quality of life.

Prognostic Value of Feature-Tracking Circumferential Strain in Dilated Cardiomyopathy Patients with Severely Reduced Ejection Fraction Incremental to Late Gadolinium Enhancement.

Myocardial fiber deformation measurements have been reported to be associated with adverse outcomes in patients with acute heart failure and those with myocardial infarction. However, few studies have addressed the prognostic value of global circumferential strain (GCS) in dilated cardiomyopathy (DCM) patients with severely impaired systolic function. This study aimed to evaluate the prognostic value of cardiac magnetic resonance (CMR)-derived GCS in DCM patients with severely reduced ejection. Consecutive DCM patients with severely reduced ejection fraction (EF <35%) who underwent CMR were included. GCS was calculated from CMR cine images. The clinical endpoint was a composite of all-cause mortality, heart transplantation, implantable cardioverter defibrillator (ICD) implantation and aborted sudden cardiac death (SCD). A total of 129 patients with a mean EF of 15.33% (11.36%-22.27%) were included. During a median follow-up of 518 days, endpoint events occurred in 50 patients. Patients with GCS ≥ the median (-5.17%) had significantly reduced event-free survival as compared with those with GCS < the median (P<0.01). GCS was independently associated with adverse events after adjusting for clinical and imaging risk factors including extent of late gadolinium enhancement (LGE) (P<0.05). Adding GCS into the model including the extent of LGE resulted in significant improvements in the C-statistic (from 0.706 to 0.742; P<0.05) with a continuous net reclassification improvement (NRI) of 29.71%. It was concluded that GCS derived from CMR could be useful for risk stratification in DCM patients with severely reduced EF, which may increase common imaging risk factors including LGE.

[Comparation of Toxoplasma gondii separated from HIV-positive people and RH strain GRA6 gene].

OBJECTIVE: To comparatively analyze Toxoplasma gondii separated from HIV-positive people and RH strain GRA6 gene. METHODS: By using the nested PCR, the amplification of Dali HIV-positive blood samples and RH strains of Toxoplasma GRA6 genome was performed. The GRA6 gene amplification positive product was selected and the electrophoresis imaging was performed by being digested with the Mse I endonuclease, and the gene sequences were measured and analyzed. RESULTS: The GRA6 gene fragment (800 bp) was successfully amplified, and about 600 bp and 200 bp bands were got by Mse I. The sequencing results showed that T. gondii GRA6 gene positive samples had 2 nucleotide variation compared with T. gondii strain RH, namely 447 base pair at C becoming G, and 623 base pair at G becoming T. At 146 bp and 690 bp, the Mse I restriction sites (TTAA) were found. CONCLUSION: The preliminary judgment shows that the Dali HIV-positive T. gondii genotype is consistent with RH strain, belonging to genotype I.

Glycyrrhizin improves p75NTR-associated sciatic nerve regeneration in a BALB/c mouse model.

Glycyrrhizin has a role in immune regulation in the central nervous system, but its impact on sciatic nerve injury had not previously been reported. In this study, a BALB/c mouse model of sciatic nerve injury was used to explore the role of glycyrrhizin in sciatic nerve repair and its underlying mechanism. Glycyrrhizin with intragastric gavage of 10 and 20 mg/kg weight per day (mid- and high-dose, respectively) inhibited p75 neurotrophin receptor (p75NTR) expression at the protein and mRNA levels versus the 5 mg/kg (low-dose) group and control (0.9% NaCl solution) at one, two, four and eight weeks following sciatic nerve injury, and simultaneously improved the action potential amplitude and motor nerve conductive velocity. Combined Marsland, Glees and Erikson's silver stain and Luxol fast blue staining results indicated that high- and mid-dose glycyrrhizin promoted improved sciatic nerve myelination compared with the low-dose or control groups eight weeks after injury. Immunofluorescence staining demonstrated that glycyrrhizin had an inhibitory effect to a certain degree on local hypertrophic scar and inflammatory responses in the mouse model. In conclusion, glycyrrhizin can promote sciatic nerve regeneration and functional repair, in which doses of 10 and 20 mg/kg per day are more effective than lower doses, and such regeneration is associated with the downregulation of p75NTR.

[Advances in genetyping of Toxoplasma gondii].

Toxoplasma gondii is a nucleated cell obligate parasite, and can cause severe toxoplasmosis. The genetypes of Toxoplasma gondii isolates of different host infections have significant differences, and the pathogenicity and sensitivity to drugs of different genotypes of Toxoplasma gondii isolates are also significantly different. At present, the analysis of Toxoplasma gondii genotypes is performed by using PCR-RFLP, PCR of highly repetitive sequences, multiple PCR and nested PCR techniques, and the multiple loci of amplification are usually B1, SAG2, HSP70, GRA6 and other genetic markers. There are main 3 traditional genotypes of Toxoplasma gondii, and along with the deepening and extension of research, more and more genotypes are found. This paper reviews the advances in the research of Toxoplasma gondii genotypes.

[Genotypes of Toxoplasma gondii isolates from HIV positive patients in Yunnan Province].

One hundred and fifty serum samples of HIV positive patients were collected in western Yunnan Province from September 2011 to December 2012. Toxoplasma gondii B1 gene was amplified by nested PCR. Genotyping of T. gondii isolates were performed by restriction fragment length polymorphism (RFLP) with Pm1 I and Xho I. 13 samples were found positive with the B1 gene (530 bp) amplification and belonged to type I. The sequencing results showed that 4 T. gondii B1 gene positive samples were identical, with 3 nucleotide variation compared with T. gondii strain RH (type I) B1 gene (GenBank No. AF179871), and in the other sample a "G --> A" mutation at 230bp was detected. The results indicated that the genotype of Toxoplasma gondii in HIV positive patients in Yunnan Province is type I.

Lattice Boltzmann study of hydrodynamic effects in lamellar ordering process of two-dimensional quenched block copolymers.

By incorporating self-consistent field theory with lattice Boltzmann method, a model for polymer melts is proposed. Compared with models based on Ginzburg-Landau free energy, our model does not employ phenomenological free energies to describe systems and can consider the chain topological details of polymers. We use this model to study the effects of hydrodynamic interactions on the dynamics of microphase separation for block copolymers. In the early stage of phase separation, an exponential growth predicted by Cahn-Hilliard treatment is found. Simulation results also show that the effect of hydrodynamic interactions can be neglected in the early stage. For the late stage of phase separation, it is easy to see the effects of hydrodynamic interactions on the ordering process of lamellae phase. From the analysis of structure factor curves, we find that the growth of domains is faster if hydrodynamic interactions are introduced. Furthermore, the scaling of the pattern dynamics is investigated for the late stage at zero thermal noise. By studying the behavior of scaling exponents of the structure factor and the nematic order-parameter correlation function C(nn), we can see that the effects of hydrodynamic interactions lead to bigger growth exponent for both functions.