Anesthesia management in a pediatric patient with Becker muscular dystrophy undergoing laparoscopic surgery:A case report

BACKGROUND Patients with Becker muscular dystrophy(BMD)have a high risk of developing hyperkalemia,rhabdomyolysis,and malignant hyperthermia when exposed to volatile anesthetics and depolarizing muscle relaxants.Patients with BMD are also prone to respiratory depression after general anesthesia.Thus,it is extremely challenging for anesthesiologists to manage anesthesia in BMD patients,particularly in pediatric BMD patients.Here,we present successful anesthesia management using transversus abdominis plane block(TAPB)combined with total intravenous anesthesia(TIVA)in a pediatric BMD patient undergoing laparoscopic inguinal hernia repair.CASE SUMMARY A 2-year-old boy,weighing 15 kg,with BMD,was scheduled for laparoscopic inguinal hernia repair.TIVA was used for induction,and continuous infusions of short-acting intravenous anesthetics combined with TAPB were performed for anesthesia maintenance.Moreover,TAPB provided good postoperative analgesia.The patient underwent uneventful surgery and anesthesia,and over the 17 mo follow-up period showed no anesthesia-induced complications.CONCLUSION TAPB combined with TIVA,using short-acting intravenous anesthetic agents,can provide safe and effective anesthesia management in pediatric BMD patients undergoing short-term abdominal surgery.

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy

Background Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy （DMD/BMD）, and to study genotype-phenotype correlation.

Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China

Background： 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. Methods： We collected 121 probands, 64 mothers ofprobands, 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. Results： 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 ofexons 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. Conclusions： MLPA has better productivity and sensitivity than multiplex PCR. Prenatal diagnosis should be applied in DM D high-risk fetuses to reduce the disease incidence. Furthermore, it is the responsibility of physicians to inform female carriers the importance of prenatal diagnosis.

Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene

Objective：Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are X-linked disorders caused by mutations in the dystrophin gene. The majority of recognized mutations are copy number changes of individual exons. The objective of the present study was to assess the multiplex ligation-dependent probe amplification （MLPA） effects of detection of gene mutations. Methods： Samples of 20 control males and 80 males and their mothers referred to our diagnostic facility on the clinical suspi- cion of DMD or BMD were tested by MLPA and multiplex PCR. Results ： The mean DQs for all peak of 20 control male samples was 1.02 （range from 0.83 to 1.21） by MLPA. Deletions or duplications were iden- tified in 6 out of 31 families that had been previously tested as negative by multiplex PCR. One case of complex rearrangement involving a duplication of two regions： dupEX3-9 and dupEX 17-41 were found by MLPA. Conclusions： MLPA is a highly sensitive method and rapid alternative to multiplex PCR for detec- tion of DMD and BMD.

Using Fluorescence in situ Hybridization to Identify DMD/BMD Deletion Carriers

Objective To identify the deletions in Duchenne/Becker muscular dystrophy (DMD/ BMD) by using fluorescence in situ hybridization (FISH)Methods The exon-specific cosmid DNA probes (representing 18 exons) were used to perform one-color FISH on metaphase and interphase preparations. The peripheral blood samples from 9 normal people (4 males and 5 females) and 5 females from independent deletion DMD/BMD families, as well as 2 amniotic fluid specimens and 2 chorionic villus samples (CVS) from normal pregnant females were analyzed. Results 72%-100% of peripheral blood lymphocyte metaphases or interphases, 60% -70% of amniocyte interphases, and 95 - 99% of chorionic villus cell interphases showed expected signals. One suspected female was identified as deletion carriers and two were excluded.Conclusion FISH in combination with other available techniques allows efficient screening of DMD/BMD deletion carriers, which also lay the ground work for prenatal diagnosis for potential fetal carriers.