Association of Age with Dual-Task Objective Cognitive Indicators and Gait Parameters in Older Adults.

Background: Early recognition of dementia like Alzheimer's disease is crucial for disease diagnosis and treatment, and existing objective tools for early screening of cognitive impairment are limited. Objective: To investigate age-related behavioral indicators of dual-task cognitive performance and gait parameters and to explore potential objective markers of early cognitive decline. Methods: The community-based cognitive screening data was analyzed. Hierarchical cluster analysis and Pearson correlation analysis were performed on the 9-item subjective cognitive decline (SCD-9) scores, walking-cognitive dual-task performance, walking speed, and gait parameters of 152 participants. The significant differences of indicators that may related to cognitive decline were statistically analyzed across six age groups. A mathematical model with age as the independent variable and motor cognition composite score as the dependent variable was established to observe the trend of motor cognition dual-task performance with age. Results: Strong correlation was found between motor cognitive scores and SCD and age. Gait parameters like the mean value of ankle angle, the left-right difference rate of ankle angle and knee angle and the coefficient of variation of gait cycle showed an excellent correlation with age. Motor cognition scores showed a decreasing trend with age. The slope of motor cognition scores with age after 50 years (k = -1.06) was six times higher than that before 50 years (k = -0.18). Conclusions: Cognitive performance and gait parameters in the walking-cognitive dual-task state are promising objective markers that could characterize age-related cognitive decline.

Percutaneous ultrasound-guided coaxial core needle biopsy for the diagnosis of multiple splenic lesions: A case report.

BACKGROUND: The overlap of imaging manifestations among distinct splenic lesions gives rise to a diagnostic dilemma. Consequently, a definitive diagnosis primarily relies on histological results. The ultrasound (US)-guided coaxial core needle biopsy (CNB) not only procures sufficient tissue to help clarify the diagnosis, but reduces the incidence of puncture-related complications. CASE SUMMARY: A 41-year-old female, with a history of pulmonary tuberculosis, was admitted to our hospital with multiple indeterminate splenic lesions. Gray-scale ultrasonography demonstrated splenomegaly with numerous well-defined hypoechoic masses. Abdominal contrast-enhanced computed tomography (CT) showed an enlarged spleen with multiple irregular-shaped, peripherally enhancing, hypodense lesions. Positron emission CT revealed numerous abnormal hyperglycemia foci. These imaging findings strongly indicated the possibility of infectious disease as the primary concern, with neoplastic lesions requiring exclusion. To obtain the precise pathological diagnosis, the US-guided coaxial CNB of the spleen was carried out. The patient did not express any discomfort during the procedure. CONCLUSION: Percutaneous US-guided coaxial CNB is an excellent and safe option for obtaining precise splenic tissue samples, as it significantly enhances sample yield for exact pathological analysis with minimum trauma to the spleen parenchyma and surrounding tissue.

Genome-wide identification and expression analysis of SUT gene family members in sugar beet (Beta vulgaris L.).

Sucrose transporters (SUTs) play an important role in the transmembrane transport and distribution of sucrose, and their activity has an important impact on plant growth and crop yield. In this study, the SUT gene family was identified in the whole beet genome using bioinformatics methods, and gene characteristics, subcellular localization prediction, phylogenetic evolution, promoter cis-elements and expression patterns were systematically analyzed. A total of 9 SUT gene family members were identified from in beet genome and divided into 3 different groups (group 1, group 2, and Group 3), which were unevenly distributed on 4 chromosomes. Most SUT family members contained photoresponsive and hormone-regulated response elements. Subcellular localization prediction showed that the BvSUT genes are all located in the inner membrane, and most of the terms identified through GO enrichment analysis are classified as "membrane" related. The results of qRT-PCR showed that the expression level of the BvSUT gene was significantly higher in the tuber enlargement stage (100-140 d) than in other stages. This study is the first to analyze the BvSUT gene family in sugar beet, and it provides a theoretical basis for the functional exploration and application of SUT genes in crop improvement, especially in sugar crops.

Enhanced production of recombinant HALT-1 pore-forming toxin using two-step chromatographic procedure.

Hydra actinoporin-like toxin-1 (HALT-1) has been isolated from Hydra magnipapillata and is highly cytolytic against various human cells including erythrocyte. Previously, recombinant HALT-1 (rHALT-1) was expressed in Escherichia coli and purified by the nickel affinity chromatography. In this study, we improved the purification of rHALT-1 by two-step purifications. Bacterial cell lysate containing rHALT-1 was subjected to the sulphopropyl (SP) cation exchange chromatography with different buffers, pHs, and NaCl concentrations. The results indicated that both phosphate and acetate buffers facilitated the strong binding of rHALT-1 to SP resins, and the buffers containing 150 mM and 200 mM NaCl, respectively, removed protein impurities but retain most rHALT-1 in the column. When combining the nickel affinity chromatography and the SP cation exchange chromatography, the purity of rHALT-1 was highly enhanced. In subsequent cytotoxicity assays, 50% of cells could be lysed at ∼18 and ∼22 µg/mL of rHALT-1 purified with phosphate and acetate buffers, respectively.•HALT-1 is a soluble α-pore-forming toxin of 18.38 kDa.•rHALT-1 was purified by nickel affinity chromatography followed by SP cation exchange chromatography.•The cytotoxicity of purified rHALT-1 using 2-step purifications via either phosphate or acetate buffer was comparable to those previously reported.

Study on automatic ultrasound scanning of lumbar spine and visualization system for path planning in lumbar puncture surgery.

In lumbar puncture surgery, compared with the conventional methodologies like computed tomography and magnetic resonance imaging, ultrasound imaging offers the advantages of being low cost, no radiation and real-time image generation. However, the use of ultrasound equipment in lumbar puncture involves a cumbersome and time-consuming process for the subjective imaging of the overall structure of the lumbar spine in order to determine the exact puncture point and path. Meanwhile, the robotic arm puncture system has the advantages of high precision, good stability and simple and efficient operation. As a result, robotic-assisted ultrasound scanning is valuable for the assessment of a puncture path in spinal tap surgery. In this pursuit, based on the official URSDK development package for a robot arm and the Transmission Control Protocol/Internet Protocol, the system proposed in the present study involves a program to control the robot arm to clamp down onto an ultrasonic probe to enable automatic scanning and acquisition of images. A three-dimensional reconstruction program based on the visualization toolkit was designed, and a lumbar spine experiment was conducted with this system. A total of 136 two-dimensional ultrasound images were collected in the lumbar spine model experiment by enhancing contrast of and denoising the original ultrasound images, and a linear interpolation algorithm was used to perform the three-dimensional reconstruction of the lumbar spine model. The reconstructed structure was defective, but the location of the spinous process gap was determined with the sagittal and coronal images. The feasibility of the system was verified by the reconstruction results, which can provide a reference for determining the puncture point and path planning in the lumbar puncture surgery.

Genetic variations in methotrexate metabolic pathway genes influence methotrexate responses in rheumatoid arthritis patients in Malaysia.

Methotrexate (MTX) is the most widely used disease-modifying anti-rheumatic drug (DMARD) for rheumatoid arthritis (RA). Many studies have attempted to understand the genetic risk factors that affect the therapeutic outcomes in RA patients treated with MTX. Unlike other studies that focus on the populations of Caucasians, Indian and east Asian countries, this study investigated the impacts of six single nucleotide polymorphisms (SNPs) that are hypothesized to affect the outcomes of MTX treatment in Malaysian RA patients. A total of 647 RA patients from three ethnicities (NMalay = 153; NChinese = 326; NIndian = 168) who received MTX monotherapy (minimum 15 mg per week) were sampled from three hospitals in Malaysia. SNPs were genotyped in patients using TaqMan real-time PCR assay. Data obtained were statistically analysed for the association between SNPs and MTX efficacy and toxicity. Analysis of all 647 RA patients indicated that none of the SNPs has influence on either MTX efficacy or MTX toxicity according to the Chi-square test and binary logistic regression. However, stratification by self-identified ancestries revealed that two out of six SNPs, ATIC C347G (rs2372536) (OR 0.5478, 95% CI 0.3396-0.8835, p = 0.01321) and ATIC T675C (rs4673993) (OR 0.5247, 95% CI 0.3248-0.8478, p = 0.008111), were significantly associated with MTX adequate response in RA patients with Malay ancestry (p < 0.05). As for the MTX toxicity, no significant association was identified for any SNPs selected in this study. Taken all together, ATIC C347G and ATIC T675C can be further evaluated on their impact in MTX efficacy using larger ancestry-specific cohort, and also incorporating high-order gene-gene and gene-environment interactions.

The complete chloroplast genome sequence of Spiraea×vanhouttei (Briot) Zabel (Rosaceae).

Spiraea×vanhouttei (Rosaceae) is a frequently planted Spiraea species that is distributed in Shandong Province, Jiangsu Province, and Guangdong Province, China. The first complete chloroplast genome of Spiraea×vanhouttei was determined and described in this study. The genome is 155,957 bp in length and contained 129 encoded genes in total, including 84 protein-coding genes, eight ribosomal RNA genes, and 37 transfer RNA genes. The phylogenomic analysis showed that Spiraea×vanhouttei was closely related to Spiraea blumei according to the current sampling extent.

Structural and functional analysis of Hydra Actinoporin-Like Toxin 1 (HALT-1).

Actinoporins are a family of α-pore-forming toxins (α-PFTs) that have been identified in sea anemones. Recently, a freshwater Hydra Actinoporin-Like Toxin (HALT) gene family was found in Hydra magnipapillata. Unlike sea anemone actinoporins that use sphingomyelin as their main recognition target, the HALTs proteins may recognise alternative lipid molecules as their target. To unveil the structural insights into lipid preference of HALTs protein as compared to sea anemone actinoporins, we have determined the first crystal structure of actinoporin-like toxin, HALT-1 at 1.43 Å resolution with an acetylated lysine residue K76. Despite the overall structure of HALT-1 sharing a high structural similarity to sea anemone actinoporins, the atomic resolution structure revealed several unique structural features of HALT-1 that may influence the lipid preference and oligomerisation interface. The HALT-1 contains a RAG motif in place of the highly conserved RGD motif found in sea anemone actinoporins. The RAG motif contributed to a sharper ß9-ß10 turn, which may sway its oligomerisation interface in comparison to sea anemone actinoporins. In the lipid-binding region, the HALT-1 contains a shorter α2 helix and a longer α2-ß9 loop due to deletion and subsequently an insertion of five amino acid residues in comparison to the sea anemone actinoporins. Structure comparison and molecular docking analysis further revealed that the HALT-1 lipid-binding site may favour sphingolipids with sulfate or phosphate head group more than the sphingomyelin. The structure of HALT-1 reported here provides a new insight for a better understanding of the evolution and lipid recognition mechanism of actinoporin.

Deterioration characteristics of cement-improved loess under dry-wet and freeze-thaw cycles.

The effects of cement dosage, compaction coefficient, molding method (vertical vibration method and static pressure method), and dry-wet and freeze-thaw cycles on the mechanical strength of cement-improved loess (CIL) were studied to reveal its strength degradation law under dry-wet and freeze-thaw cycles. Results show that when using the vertical vibration molding method, the strength degradation effect of CIL can be improved by increasing the cement dosage and compaction coefficient; however, it is not obvious. Under the action of dry-wet cycle, damages, such as voids and cracks of CIL, develop continuously. Further, the strength deteriorates continuously and does not decrease after more than 15 dry-wet cycles. Therefore, the dry-wet cycle degradation system is selected by considering the most unfavorable conditions. In the process of freeze-thaw alternation, the pores and fissures of CIL develop and evolve continuously and the strength deteriorates continuously under the joint influence of water and low temperature. The strength tends to become stable after more than 12 freeze-thaw cycles. According to the safety principle, the deterioration coefficient of the freeze-thaw cycles is 0.3.

Effects of photobiomodulation combined with MSCs transplantation on the repair of spinal cord injury in rat.

Stem cell transplantation has shown promising regenerative effects against neural injury, and photobiomodulation (PBM) can aid tissue recovery. This study aims to evaluate the therapeutic effect of human umbilical cord mesenchymal stem cells (hUCMSCs) and laser alone or combined on spinal cord injury (SCI). The animals were divided into SCI, hUCMSCs, laser treatment (LASER) and combination treatment (hUCMSCs + LASER) groups. Cell-enriched grafts of hUCMSCs (1 × 106 cells/ml) were injected at the site of antecedent trauma in SCI model rats. A 2 cm2 damaged area was irradiated with 630 nm laser at 100 mW/cm2 power for 20 min. Locomotion was evaluated using Basso-Beattie-Bresnahan (BBB) scores, and neurofilament repair were monitored by histological staining and diffusion tensor imaging (DTI). First, after SCI, the motor function of each group was restored with different degrees, the combination treatment significantly increased the BBB scores compared to either monotherapy. In addition, Nissl bodies were more numerous, and the nerve fibers were longer and thicker in the combination treatment group. Consistent with this, the in situ expression of NF-200 and glial fibrillary acidic protein in the damaged area was the highest in the combination treatment group. Finally, DTI showed that the combination therapy optimally improved neurofilament structure and arrangement. These results may show that the combination of PBM and hUCMSCs transplantation is a feasible strategy for reducing secondary damage and promoting functional recovery following SCI.

Evaluation of Hydra HALT-1 as a toxin moiety for recombinant immunotoxin.

BACKGROUND: Immunotoxin is a hybrid protein consisting of a toxin moiety that is linked to a targeting moiety for the purpose of specific elimination of target cells. Toxins used in traditional immunotoxins are practically difficult to be produced in large amount, have poor tissue penetration and a complex internalization process. We hypothesized that the smaller HALT-1, a cytolysin derived from Hydra magnipapillata, can be used as the toxin moiety in construction of a recombinant immunotoxin. RESULTS: In this study, pro-inflammatory macrophage was selected as the target cell due to its major roles in numerous inflammatory and autoimmune disorders. We aimed to construct macrophage-targeted recombinant immunotoxins by combining HALT-1 with anti-CD64-scFv in two orientations, and to assess whether their cytotoxic activity and binding capability could be preserved upon molecular fusion. The recombinant immunotoxins, HALT-1-scFv and scFv-HALT-1, were successfully constructed and expressed in Escherichia coli (E. coli). Our data showed that HALT-1 still exhibited significant cytotoxicity against CD64+ and CD64- cell lines upon fusion with anti-CD64 scFv, although it had half cytotoxic activity as compared to HALT-1 alone. As positioning HALT-1 at N- or C-terminus did not affect its potency, the two constructs demonstrated comparable cytotoxic activities with IC50 lower in CD64+ cell line than in CD64- cell line. In contrast, the location of targeting moieties anti-CD64 scFv at C-terminal end was crucial in maintaining the scFv binding capability. CONCLUSIONS: HALT-1 could be fused with anti-CD64-scFv via a fsexible polypeptide linker. Upon the successful production of this recombinant HALT-1 scFv fusion protein, HALT-1 was proven effective for killing two human cell lines. Hence, this preliminary study strongly suggested that HALT-1 holds potential as the toxin moiety in therapeutic cell targeting.

Nrf2 played an important role in radiation protection effect of low-level laser exposed on umbilical cord mesenchymal stem cell.

To investigate the protective function of low-level laser irradiation (LLLI) against ionizing irradiation and explore the molecular mechanism of photomodulation of Nrf2 protein, the impact of LLLI (635 nm, 5.7 J/cm2) before 2 Gy gamma ray radiation of radio-sensitive tissue hematopoietic stem cells was evaluated. As a result, reduced levels of reactive oxygen species and increased expression of antioxidant enzymes were detected. Moreover, increased expression of Nrf2 was observed after LLLI, whereas brusatol pretreatment before LLLI abolished this effect. In vivo, transplantation of human umbilical cord mesenchymal stem cells (hUC-MSCs) was employed for therapy of hematopoietic function in an acute radiation sickness (H-ARS) mouse model, which was induced by 6-Gy ionizing irradiation; different hUC-MSC pretreatments including LLLI and Nrf2 RNAi were accounted for during experimental grouping. LLLI treatment of cells significantly increased the erythrocyte count and number of myelopoiesis clones (P < 0.05), but such improvements were reduced by Nrf2 RNAi pretreatment compared with cells transplanted without intervention. Therefore, LLLI may improve the radiation protection effect through molecular mechanisms related to the Nrf2 antioxidant pathway.

The Anti-Inflammatory and Anti-Oxidant Mechanisms of the Keap1/Nrf2/ARE Signaling Pathway in Chronic Diseases.

Oxidative stress is defined as an imbalance between production of free radicals and reactive metabolites or [reactive oxygen species (ROS)] and their elimination by through protective mechanisms, including (antioxidants). This Such imbalance leads to damage of cells and important biomolecules and cells, with hence posing a potential adverse impact on the whole organism. At the center of the day-to-day biological response to oxidative stress is the Kelch-like ECH-associated protein 1 (Keap1) - nuclear factor erythroid 2-related factor 2 (Nrf2)- antioxidant response elements (ARE) pathway, which regulates the transcription of many several antioxidant genes that preserve cellular homeostasis and detoxification genes that process and eliminate carcinogens and toxins before they can cause damage. The redox-sensitive signaling system Keap1/Nrf2/ARE plays a key role in the maintenance of cellular homeostasis under stress, inflammatory, carcinogenic, and pro-apoptotic conditions, which allows us to consider it as a pharmacological target. Herein, we review and discuss the recent advancements in the regulation of the Keap1/Nrf2/ARE system, and its role under physiological and pathophysiological conditions, e.g. such as in exercise, diabetes, cardiovascular diseases, cancer, neurodegenerative disorders, stroke, liver and kidney system, etc. and such.

Study on Umbilical Cord-Matrix Stem Cells Transplantation for Treatment of Acute Traumatic Brain Injury in Rats.

AIM: To evaluate the effect of umbilical cord derived mesenchymal stem cells (UC-MSCs) transplantation on traumatic brain injury (TBI). MATERIAL AND METHODS: UC-MSCs were isolated from human umbilical cord and TBI rat model was constructed. 30 male SD rats were randomly divided into 3 groups: control group, TBI group and MSCs transplantation group. Rats in MSCs group received the injection of a total of 1.5 C- 106 MSCs (25 I»l) via ventricle at operated ventricular coordinates (0 at bregma, 1.5 mm at lateral, 1.1 mm at behind, 4.5 mm in depth). RESULTS: 80% confluence of cells was formed from tissue at day 10 and the amount of CD90, CD73, CD105 positive cells increased correspondingly. In TBI model, clear hyperemia, edema and obvious infiltration of inflammatory cells in brain tissue were found. However, the manifestations were alleviated after the treatment of MSCs. In MSCs group, GFP in the brain tissue and the area around the vessels were found after the injection, while the expression levels of micro-vessel density (MVD), brain-derived neurotrophic factor (BDNF) and glial fibrillary acidic protein (GFAP) were elevated. CONCLUSION: UC-MSCs transplantation for treatment of acute TBI could effectively reduce the injury and improve the vascular reconstruction.

Metal-free naphthannulation reactions of yne-allenone esters for accessing polycyclic aromatic hydrocarbons.

The first metal-free base-promoted naphthannulation reactions of yne-allenone esters were established for the direct assembly of a wide range of polycyclic aromatic hydrocarbons with generally good yields. The naphthannulation reaction of yne-allenone esters with ß-ketonitriles provided new phenanthrene-1-carboxylates via a base-mediated [2+2] cycloaddition/ring expansion sequence, whereas hitherto unreported tetracyclic tetrahydrotetraphene-7-carboxylates were obtained with good yield via a sequential double annulation cascade of yne-allenone esters with dimedone as a diphilic reagent.

Abnormal expressions of AGEs, TGF-ß1, BDNF and their receptors in diabetic rat colon-Associations with colonic morphometric and biomechanical remodeling.

Present study aims to investigate the role of AGEs, TGF-ß1, BDNF and their receptors on diabetes-induced colon remodeling. Diabetes was induced by a single tail vein injection 40 mg/kg of STZ. The parameters of morphometric and biomechanical properties of colonic segments were obtained from diabetic and normal rats. The expressions of AGE, RAGE, TGF- ß1, TGF- ß1 receptor, BDNF and TrkB were immunohistochemically detected in different layers of the colon. The expressions of AGE, RAGE, TGF-ß1 and TGF- ß1 receptor were increased whereas BDNF and TrkB were decreased in the diabetic colon (P < 0.05, P < 0.01). AGE, RAGE and TGF-ß1 receptor expressions were positively correlated whereas the BDNF expression was negatively correlated with most of the morphometry and biomechanical parameters (P < 0.05, P < 0.01, P < 0.001). AGE, TGF- ß1 and BDNF in different layers correlated with their receptors RAGE, TGF- ß1 receptor and TrkB respectively. STZ-induced diabetes up-regulated the expression of AGE, RAGE, TGF- ß1 and TGF- ß1 receptors and down-regulated BDNF and TrkB in different layers of diabetic colon mainly due to hyperglycemia. Such changes maybe important for diabetes-induced colon remodeling, however it is needed to further perform mechanistic experiments in order to study causality or approaches that explain the relevance of the molecular pathways.

Effect of 405 nm low intensity irradiation on the absorption spectrum of in-vitro hyperlipidemia blood.

BACKGROUND: Laser therapy is reported to be clinically effective for improving microcirculation, rheological properties and blood lipid profiles despite the lack of certainty on the mechanism. OBJECTIVE: This study intends to provide methods to drop blood lipid level of hyperlipidemia samples by low-intensity laser irradiation therapy and provide reasoning of mechanism. METHODS: Twenty whole blood samples of high level of lipids profile are irradiated by 405 nm low-intensity laser at 12 J/cm2 twice a day for 3 days and compared with normal lipids profile group. Then whole blood sample are centrifuged to obtain result of erythrocyte for further interpretation. Multi-scan spectrum microplate reader is used to measure absorption spectrum and data is analyzed by software SPSS 14.0. RESULTS: Results show that after 405 nm low-intensity laser irradiation, whole blood samples of high lipid level statistically have higher absorbance peak value than normal samples while erythrocyte samples have lower absorbance peak value. CONCLUSIONS: From the divergence of absorption peak value change after low-intensity laser irradiation for whole blood sample and erythrocyte, we suspect that low level laser irradiation affects the enzymes activity of lipid metabolism, improves the cholesterol balance of plasma and cytoplasm in erythrocyte, and decreases aggregation of the erythrocyte.

Baseline Metabolic Risk Score and Postsurgical Esophageal Cancer-Specific Mortality: The Fujian Prospective Investigation of Cancer (FIESTA) Study.

Backgrounds: Compelling evidence has emerged to support a close relationship between metabolic syndrome and esophageal cancer (EC). Aims: Using five baseline metabolism-related markers, we constructed a metabolic risk score (MRS), aiming to test whether MRS can improve the prediction of postsurgical EC-specific mortality over traditional demographic and clinicopathologic characteristics. Methods: Total 2535 EC patients who received three-field lymphadenectomy were enrolled from January 2000 to December 2010, and they were followed up until December 2015. Results: All EC patients were randomly split into derivation group (n=1512, 60%) and validation group (n=1014, 40%). MRS was generated in derivation group by adopting the Framingham 'points' system and shrinkage method, and it ranged from -9 to 17. EC-specific mortality risk increased with the increase of MRS, and adjusted estimates were more obvious in patients with upper tertile (MRS>6) than patients with lower MRS (≤2) in either derivation (hazard ratio [HR]=2.28, 95% confidence interval [CI]: 1.90-2.73, P<0.001) or validation group (HR=2.11, 95% CI: 1.66-2.67, P<0.001) or both groups (HR=2.37, 95% CI: 1.95-2.88, P<0.001). In Kaplan-Meier curve, cumulative survival rates differed significantly across tertiles of MRS. Further analysis indicated that MRS can improve classification accuracy and discriminatory ability over clinicopathologic parameters. Conclusions: Our findings supported the usefulness of baseline MRS in predicting the prognosis of postsurgical EC-specific mortality.

Analysis of two Chinese Han families with Duchenne/Becker muscular dystrophy / 上海交通大学学报（医学版）

Objective: To deepen the understanding of Duchenne/Becker muscular dystrophy by investigating dystrophin (DMD) gene variants in 2 Chinese Han families with this disease. Methods: Retrospective analysis of the clinical characteristics of the probands in two families with Duchnne/ Becker muscular dystrophy and the results of multiplex ligation-dependent probe amplification (MLPA) for the probands and their relatives was performed. Results: Three probands were identified by significantly-elevated creatine kinase levels. Two probands in family one are fraternal twin brothers with the same deletions of exons 8-9, while their mother has no abnormality at this site. The proband in family two is the little brother in a pair of fraternal twins with duplication of exons 48-51, and his mother has heterozygous duplication of exons 48-51. Conclusion: ① The presence of the same DMD gene mutation in the fraternal twins suggests that the mother may be a gonad chimera with this mutation if her gene detection of peripheral blood is normal. The mother must undergo prenatal gene diagnosis to reduce the risk of Duchenne/Becker muscular dystrophy in her offsprings. ② The exons 48-51 duplication of DMD gene is pathogenic mutation.