Identification of a NONO gene variant in a child with congenital heart disease and global developmental delay / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with congenital heart disease (CHD) and global developmental delay (GDD).@*METHODS@#A child who was hospitalized at the Department of Cardiac Surgery of Fujian Children's Hospital on April 27, 2022 was selected as the study subject. Clinical data of the child was collected. Umbilical cord blood sample of the child and peripheral blood samples of his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 3-year-and-3-month-old boy, had manifested cardiac abnormalities and developmental delay. WES revealed that he had harbored a nonsense variant of c.457C>T (p.Arg153*) in the NONO gene. Sanger sequencing showed that neither of his parents has carried the same variant. The variant has been recorded by the OMIM, ClinVar and HGMD databases, but not in the normal population databases of 1000 Genomes, dbSNP and gnomAD. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was rated as a pathogenic variant.@*CONCLUSION@#The c.457C>T (p.Arg153*) variant of the NONO gene probably underlay the CHD and GDD in this child. Above finding has expanded the phenotypic spectrum of the NONO gene and provided a reference for the clinical diagnosis and genetic counseling for this family.

Impact of neoadjuvant radiochemotherapy on erectile and urinary functions in mid-low rectal cancer patients: A prospective non-randomized controlled trial / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To study the impact of neoadjuvant radiochemotherapy on erectile and urinary functions in mid-low rectal cancer patients.</p><p><b>METHODS</b>Seventy mid-low rectal cancer patients from January 2012 to May 2013 in The Sixth Affiliated Hospital, Sun Yat-sen University were prospectively enrolled. According to tumor staging and patient decision, patients received neoadjuvant radiochemotherapy(50 Grays administered over a six-week period and four cycles of concomitant mFOLFOX6 chemotherapy followed by operation (study group) or surgery alone(control group). Dropouts, loss to follow up and relapse during follow-up were removed from the analysis. A total of 30 patients stayed in study group and 29 patients in control group. To assess erectile and urination functions, the five-item version of the international index of erectile function (IIEF-5) and the international prostate symptom score (IPSS) questionnaires were used before therapy and 12 months after surgery.</p><p><b>RESULTS</b>In both study and control groups, total IIEF-5 score was decreased significantly at postoperative 12-month compared to initial assessment(P<0.01). Compared with control group, IIEF-5 score change was significantly higher in study group (9.6 ± 6.1 vs. 5.3 ± 5.3; P<0.01). Total IPSS score in both groups was increased significantly at postoperative 12-month compared to initial assessment(P<0.05). No significant difference was found in IPSS score change between the two groups (3.0 ± 3.4 vs. 1.5 ± 3.0, P>0.05). Univariate analysis on study group showed that age, tumor location and maximal diameter were associated with erectile dysfunction. Age was associated with urination dysfunction (all P<0.05).</p><p><b>CONCLUSION</b>Neoadjuvant radiochemotherapy has significant impact on erectile dysfunction after surgery in mid-low rectal cancer patients.</p>