Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China / 中华医学杂志(英文版)

<p><b>Background</b>Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction (multiplex PCR) and multiplex ligation-dependent probe amplification (MLPA) are the most common methods for detecting dystrophin gene mutations. This study aimed to contrast the two methods and discern the genetic characterization of patients with DMD/BMD in Eastern China.</p><p><b>Methods</b>We collected 121 probands, 64 mothers of probands, and 15 fetuses in our study. The dystrophin gene was detected by multiplex PCR primarily in 28 probands, and MLPA was used in multiplex PCR-negative cases subsequently. The dystrophin gene of the remaining 93 probands and 62 female potential carriers was tested by MLPA directly. In fetuses, multiplex PCR and MLPA were performed on 4 fetuses and 10 fetuses, respectively. In addition, sequencing was also performed in 4 probands with negative MLPA.</p><p><b>Results</b>We found that 61.98% of the subjects had genetic mutations including deletions (50.41%) and duplications (11.57%). There were 43.75% of mothers as carriers of the mutation. In 15 fetuses, 2 out of 7 male fetuses were found to be unhealthy and 2 out of 8 female fetuses were found to be carriers. Exons 3-26 and 45-52 have the maximum frequency in mutation regions. In the frequency of exons individually, exon 47 and exon 50 were the most common in deleted regions and exons 5, 6, and 7 were found most frequently in duplicated regions.</p><p><b>Conclusions</b>MLPA has better productivity and sensitivity than multiplex PCR. Prenatal diagnosis should be applied in DMD high-risk fetuses to reduce the disease incidence. Furthermore, it is the responsibility of physicians to inform female carriers the importance of prenatal diagnosis.</p>

A retrospective analysis of 6 children with Duchenne muscular dystrophy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical features of 6 children with Duchenne muscular dystrophy (DMD) and review related literature, and to provide a basis for early diagnosis and effective treatment of this disease.</p><p><b>METHODS</b>A retrospective analysis was performed on the clinical data of 6 children with DMD who were admitted to the First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015.</p><p><b>RESULTS</b>All the 6 cases were boys without a family history of DMD, and the age of diagnosis of DMD was 1.2-11.5 years. All patients had insidious onset and increases in alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, α-hydroxybutyrate dehydrogenase, creatine kinase (CK), and creatine kinase-MB, particularly CK, which was 3.3-107.2 times the normal level. Their gene detection results all showed DMD gene mutation. The gene detection results of two children's mothers showed that they carried the same mutant gene. The muscle biopsy in one case showed that the pathological changes confirmed the diagnosis of DMD. The level of CK in one case declined by 77.0% 5 days after umbilical cord blood mesenchymal stem cell transplantation.</p><p><b>CONCLUSIONS</b>For boys with abnormal serum enzyme levels and motor function, DMD should be highly suspected. It should be confirmed by CK and DMD gene detection as soon as possible. And the progression of the disease could be delayed by early intervention for protecting the remaining normal muscle fibers.</p>

Sperm chromatin structure assay predicts the outcome of intrauterine insemination / 中华男科学杂志

<p><b>OBJECTIVE</b>Sperm chromatin structure assay (SCSA), as a clinically practical technique for the analysis of DNA damage, is rarely reported in China. This study focuses on the correlation of DNA damage with the pregnancy rate of intrauterine insemination (IUI).</p><p><b>METHODS</b>We performed semen analysis for 482 couples undergoing IUI, calculated the DNA fragmentation index (DFI) by SCSA, and observed the relationship between DFI and the pregnancy rate of IUI.</p><p><b>RESULTS</b>Clinical pregnancy was achieved in 5 (5.26%) of the 95 cases with DFI > 25%, and in 59 (15.25%) of the 387 cases with DFI < or = 25%. Those with sperm DFI >25% had significantly lower rates of biochemical pregnancy and clinical pregnancy than those with DFI < or = 25% (OR: 0.37, 95% CI: 0.14 - 0.96 and OR: 0.38, 95% CI: 0.16 - 0.97). No significant differences were found in the DFI of 54 cases between the first and the second cycle ([15.05 +/- 7.98]% vs [17.25 +/- 12.18]%, P > 0.05). Sperm DFI was significantly negatively correlated with sperm concentration, sperm motility and total progressively motile sperm count (P < 0.01).</p><p><b>CONCLUSION</b>The pregnancy rate of IUI is significantly lower in couples with DFI >25% than in those with DFI < or = 25%. Sperm DFI obtained from SCSA is partly correlated with sperm concentration and motility, and it is a robust predictor of the IUI outcome.</p>