Prenatal diagnosis for a fetus with 5p deletion syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography.@*METHODS@#Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation.@*CONCLUSION@#CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.

Impacts of different grafts for bladder reconstruction on postoperative recovery of the patients / 南方医科大学学报

<p><b>OBJECTIVE</b>To compare the postoperative recovery among patients undergoing orthotopic bladder substitution with sigmoid or ileal grafts.</p><p><b>METHODS</b>The clinical data and postoperative recovery (postoperative complications, continence recovery time and postoperative hospital stay) of 84 patients receiving orthotopic bladder substitution with sigmoid or ileal grafts after radical cystectomy for bladder cancer were analyzed.</p><p><b>RESULTS</b>Of the 84 cases, 70 had continent urinary reservoirs constructed, among whom 58 (aged 48-89 years) received an ileal neobladder (IN) and 12 (aged 28-80 years) received a sigmoid neobladder (SN). The postoperative complications rate, continence recovery time and postoperative hospital stay in IN group was 29.3% (17/58), 91.4%, and 23.5 days, as compared to 58.3%(7/12) (P=0.04), 66.7% (P=0.03), and 25 days (P=0.04) in patients in SN group, respectively.</p><p><b>CONCLUSION</b>A neobladder constructed from ileal grafts achieves better postoperative recovery results compared to a neobladder constructed from sigmoid grafts.</p>