ABSTRACT
Objective?To evaluate the application of guidewire-assisted biopsy and balloon dilatation cytology smear through ERCP in diagnosis of patients with hilar cholangiocarcinoma.?Methods?During the ERCP procedure, 52 patients with hilar cholangiocarcinoma were treated with balloon dilatation, and cytology smear from the surface of the balloon. At the same time, biopsy forceps assisted by guidewire inserted into the bile duct to biopsy the lesion and obtain specimens.?Results?Success rate of obtaining histopathological through ERCP guidewire assisted biopsy in biliary bile duct was 100.0%, 31 cases were histological diagnosed by forceps biopsy in 52 cases, positive diagnosis rate was 59.6%; The patient with balloon dilatation in 52 cases give cytology smears obtained diagnosis in 22 cases, the positive rate was 42.3%; cytology smear combined with biopsy, a total of 34 cases were diagnosed, the positive rate was 65.4%. There was no serious complications occurred.?Conclusion?Biopsy assisted by guidewire through ERCP is a safe, simple, easy technique and an effective means of obtaining pathological, meanwhile, the cytology smear after balloon dilatation can be used as a supplement to biopsy, and provides an effective means in pathological diagnosis of hilar cholangiocarcinoma.
ABSTRACT
<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>