OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a woman featuring moderate intellectual disability (ID). METHODS: The patient had presented at the First Affiliated Hospital of Zhengzhou University on April 28, 2021. With informed consent, peripheral blood and amniotic fluid samples were collected for the extraction of genomic DNA. Pathogenic copy number variations (CNVs) were detected with CNV-seq, and single gene variants were detected by whole exome sequencing (WES) and Sanger sequencing. Candidate variant was verified by Sanger sequencing, and CNV-seq and multiplex ligation-dependent probe amplification (MLPA) were used to detect fetal CNVs. RESULTS: The 23-year-old woman had moderate ID, sideway walking, and unstable holding. Ultrasonography at 18⁺³ weeks' gestation had revealed no fetal abnormality. No pathogenic CNV was detected in the woman by CNV-Seq, while WES revealed that she has harbored a heterozygous c.1675C>T (p.Arg559*) variant of the DLG4 gene, which was verified by Sanger sequencing. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PVS1+PM2_supporting). Sanger sequencing has confirmed that the fetus has inherited this variant, and CNV-Seq also revealed that that fetus has harbored a 0.1 Mb heterozygous deletion at Xp21.1, which has encompassed the DMD gene, and the result was verified by MLPA. CONCLUSION The heterozygous c.1675C>T variant of the DLG4 gene probably underlay the mental retardation in this woman, and her fetus was found to harbor the same variant in addition with deletion of the DMD gene, which may predispose to ID type 62.
Female ; Humans ; Pregnancy ; Young Adult ; Disks Large Homolog 4 Protein ; DNA Copy Number Variations ; Fetus ; Genetic Testing ; Intellectual Disability/genetics* ; Pregnant Women

Objective To investigate the level of care burden in the primary caregivers of child patients with recurrent respiratory papillomatosis (RRP) and its influencing factors.Methods A total of 86 RRP child patients and their primary caregivers from a tertiary hospital in Beijing between October 2015 and October 2016 were selected by convenience sampling,and investigated with self-designed general situation questionnaires and Zarit Burden Interview (ZBI).Results The total score of ZBI in the 86 primary caregivers was (42.85±16.54), and the personal and responsibility burden scores were (22.94±9.98) and (10.91±4.79),respectively. And 55.8% of the primary caregivers showed heavy burden;31.4% of the primary caregivers showed moderate burden;and 12.8% of the primary caregivers had no or light burden. According to multiple regression analysis, monthly household income,recurrent frequency and child patients with tracheotomy or not were the major influencing factors of care burden in the primary caregivers of RRP child patients,which could account for 57.1% of the variances in the care burden.Conclusions The primary caregivers of RRP child patients have a heavy care burden. Relevant authorities and medical staff can take targeted measures to alleviate the burden of caregivers based on the major influencing factors.

Objective To explore the specific contents and ways of extended care in patients with laryngopharyngeal reflux disease, so as to improve the compliance behaviors and promote the prognosis of the patients.Methods In the Ear Nose Throat & Head and Neck Surgery Department of Beijing Tongren Hospital, by convenience sampling method, a total of 48 patients with laryngopharyngeal reflux disease, who were admitted from January to June 2016, were assigned into the experimental group, and 48 patients who were admitted from July to December 2015 were assigned into the control group. All the patients were given routine discharge education, and the experimental group was given extended care after discharge. A self-designed compliance behaviors questionnaire of patients with laryngopharyngeal reflux was used to investigate the patients at the 1st month, and the 3rd month after discharge. Reflux Finding Score (RFS) and Reflux Symptom Index (RSI) were used at admission and 3 months after discharge to evaluate patients' situation.Results The scores of the compliance behaviors questionnaire in the experimental group at the 1st month and the 3rd month after discharge were (25.04±1.52) and (22.92±2.03) respectively, which were higher than those in the control group (16.06±1.45) and (14.96±1.30). The differences were statistically significant (t=29.67, 22.85;P<0.001). The differences in the scores of RFS and RSI between the two groups were statistical (t=4.96, 3.97;P<0.001). Conclusions Extended care can meet recovery demands of patients with laryngopharyngeal reflux, strengthen the health conceptions of patients in the disease recovery after discharge, and improve compliance behaviors and prognosis of patients.