OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with Branchio-Oto syndrome (BOS). METHODS: A pedigree with BOS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples of the proband and her parents were collected. Whole exome sequencing (WES) was carried out for the proband. Multiplex ligation-dependent probe amplification (MLPA) was used to verify the result of WES, short tandem repeat (STR) analysis was used to verify the relationship between the proband and her parents, and the pathogenicity of the candidate variant was analyzed. RESULTS: The proband, a 6-year-old girl, had manifested severe congenital deafness, along with inner ear malformation and bilateral branchial fistulae. WES revealed that she has harbored a heterozygous deletion of 2 466 kb at chromosome 8q13.3, which encompassed the EYA1 gene. MLPA confirmed that all of the 18 exons of the EYA1 gene were lost, and neither of her parents has carried the same deletion variant. STR analysis supported that both of her parents are biological parents. Based on the guidelines from the American College of Medical Genetics and Genomics, the deletion was classified as pathogenic (PVS1+PS2+PM2_Supporting+PP4). CONCLUSION The heterozygous deletion of EYA1 gene probably underlay the pathogenicity of BOS in the proband, which has provided a basis for the clinical diagnosis.
Humans ; Female ; Pregnancy ; Child ; Pedigree ; Family ; Parents ; Chromosomes, Human, Pair 3 ; Exons ; Nuclear Proteins/genetics* ; Protein Tyrosine Phosphatases ; Intracellular Signaling Peptides and Proteins/genetics*

BACKGROUND: Fertility and childbearing are the most important determinants of population variation around the world. This study was conducted with the aim of determining the psychological and sociodemographic factors predicting fertility intention among women referred to comprehensive health centers in Hamadan based on the beliefs, attitudes, subjective norms, and enabling factors (BASNEF) model. METHODS: This descriptive analytical study was performed in comprehensive health centers in Hamadan in 2016. Through a multi-stage sampling method, 484 women were enrolled in the study. The data collection tool was a self-report questionnaire based on the constructs of the BASNEF model. Data were analyzed using linear regression, independent t-test, and a one-way analysis of variance using IBM SPSS software ver. 22.0 (IBM Corp., Armonk, NY, USA). RESULTS: The mean±standard deviation of the women's age was 31.85±6.13 years. The variables of motivation to comply (β=0.228), enabling factors (β=0.162), subjective norms (β=0.134), and attitude (β=0.122) were the predictors of fertility intention in women. This model was able to explain 16.8% of variance in behavioral intention. Also, lower age, higher education, shorter duration of marriage, and having a daughter resulted in a greater fertility intention. CONCLUSION: It seems that designing and implementing educational programs to improve attitudes, promoting positive subjective norms, and enhancing enabling factors can play a major role in increasing fertility intention in women.
Causality ; Data Collection ; Education ; Female ; Fertility ; Humans ; Intention ; Iran ; Linear Models ; Marriage ; Methods ; Motivation ; Nuclear Family

PURPOSE: This study was conducted to examine the relationship between a mother's diagnosis of cervical cancer and attitudes toward cervical cancer prevention in their daughters. Their intention to recommend human papillomavirus (HPV) vaccination for their daughters, their confidence in 8 methods for cervical cancer prevention with their daughters, and their negative emotions about the assumption of their daughter's HPV infection.METHODS: This study was a secondary analysis of data from the study of maternal health beliefs about preventing cervical cancer. The study sample were women who reported whether ever diagnosed with cervical cancer, who had pubertal daughters (n=1,578). Data were analyzed by cross-tabulation analysis, Spearman's rank correlation analysis, and logistic regression.RESULTS: Mothers diagnosed with cervical cancer were more confident in using methods to prevent cervical cancer in their daughters (Z=−4.42, p<.001) and were more likely to feel negative emotions about the assumption of their daughters' HPV infection (Z=−2.44, p=.015) than mothers who were not diagnosed. Significant factors influencing their intention to recommend the HPV vaccination to their daughters were the mother's confidence in preventing cervical cancer in their daughters (odds ratio [OR], 1.003; 95% confidence interval [CI], 1.002–1.004) and their negative emotions about the assumption of their daughters' HPV infection (OR,1.016; 95% CI, 1.004–1.028).CONCLUSION: For the early prevention of cervical cancer in pubertal daughters, the education of their mothers should include interventions to increase confidence in preventing cervical cancer in their daughters and sensitivity of HPV infection toward daughters.
Adolescent ; Diagnosis ; Education ; Female ; Humans ; Intention ; Logistic Models ; Maternal Health ; Mothers ; Nuclear Family ; Puberty ; Uterine Cervical Neoplasms ; Vaccination

OBJECTIVE: The image of the wicked stepmother has created a prejudice against stepmothers, which makes it difficult for them to adjust to their stepfamilies. This study compared fairy tales from different cultures to reestablish the nature of stepmothers.METHODS: Grimms’ Fairy Tales (GFT) was used to represent Western culture, with stepmother characters appearing in 15 out of 210 tales. “The Collection of Korean Traditional Fairy Tales” (KFT) was used to represent Eastern culture, with stepmother characters featured in 14 out of 15,107 tales. We examined the relationships between stepmothers and stepchildren in GFT and KFT.RESULTS: Daughters were abused more often than sons in both genres. In GFT, jealousy spurred the abuse in 12 of 15 cases, while in KFT greed was predominant in 12 of 14 cases.CONCLUSION: The fairy tale portrayals of wicked stepmothers may be associated with the stigma children place on their stepmothers, which needs to be overcome.
Child ; Divorce ; Folklore ; Humans ; Jealousy ; Marriage ; Nuclear Family ; Parents ; Prejudice

OBJECTIVES: The family caregivers of patients with dementia experience high caregiver burden. This study aims to investigate the prevalence of depression in family caregivers of dementia patients and to reveal whether or not the depression is affected by caregiver burden.METHODS: Multi-stage cluster sampling was adopted in this study. Interviews were conducted face-to-face with 18-year-old and older people living in the community from June to November 2016. Korean version of Composite International Diagnostic Interview(K-CIDI) was applied to assess the prevalence of one-year MDD of the subjects. It also examined whether caregivers in the survey lived with the dementia patients, whether they were caregiving the dementia patients themselves, and which relationship they had.RESULTS: Cross-analysis was conducted on the relationships in MDD and caregiver burden according to demographic factors, with a total of 5,102 respondents in the study. Prevalence of one-year MDD was 8.2% for sons and daughters and 50% for spouses with dementia. Among the families who had caregiver burden with dementia, prevalence of one-year MDD was 12.9%. Elderly and small numbers of family were also significantly associated with the prevalence of one-year MDD.CONCLUSION: The prevalence of one-year MDD of the family caregivers of patients with dementia was higher than without that of patients according to family relation and caregiver burden. Caregivers who were elderly and had two or fewer family members had more caregiver burden and higher prevalence of one-year MDD.
Adolescent ; Aged ; Caregivers ; Dementia ; Demography ; Depression ; Depressive Disorder, Major ; Family Relations ; Humans ; Korea ; Nuclear Family ; Prevalence ; Spouses ; Surveys and Questionnaires

PURPOSE: The aim of this study was to evaluate the diagnostic performance of a computer-aided detection (CAD) system used with automated breast ultrasonography (ABUS) for suspicious lesions detected on breast MRI, and CAD-false lesions. MATERIALS AND METHODS: We included a total of 40 patients diagnosed with breast cancer who underwent ABUS (ACUSON S2000) to evaluate multiple suspicious lesions found on MRI. We used CAD (QVCAD™) in all the ABUS examinations. We evaluated the diagnostic accuracy of CAD and analyzed the characteristics of CAD-detected lesions and the factors underlying false-positive and false-negative cases. We also analyzed false-positive lesions with CAD on ABUS. RESULTS: Of a total of 122 suspicious lesions detected on MRI in 40 patients, we excluded 51 daughter nodules near the main breast cancer within the same quadrant and included 71 lesions. We also analyzed 23 false-positive lesions using CAD with ABUS. The sensitivity, specificity, positive predictive value, and negative predictive value of CAD (for 94 lesions) with ABUS were 75.5%, 44.4%, 59.7%, and 62.5%, respectively. CAD facilitated the detection of 81.4% (35/43) of the invasive ductal cancer and 84.9% (28/33) of the invasive ductal cancer that showed a mass (excluding non-mass). CAD also revealed 90.3% (28/31) of the invasive ductal cancers measuring larger than 1 cm (excluding non-mass and those less than 1 cm). The mean sizes of the true-positive versus false-negative mass lesions were 2.08 ± 0.85 cm versus 1.6 ± 1.28 cm (P < 0.05). False-positive lesions included sclerosing adenosis and usual ductal hyperplasia. In a total of 23 false cases of CAD, the most common (18/23) cause was marginal or subareolar shadowing, followed by three simple cysts, a hematoma, and a skin wart. CONCLUSION: CAD with ABUS showed promising sensitivity for the detection of invasive ductal cancer showing masses larger than 1 cm on MRI.
Breast Neoplasms ; Breast ; Hematoma ; Humans ; Hyperplasia ; Magnetic Resonance Imaging ; Nuclear Family ; Sensitivity and Specificity ; Shadowing (Histology) ; Skin ; Ultrasonography, Mammary ; Warts

PURPOSE: When it comes to cancer care, the psychological well-being of family caregivers has gotten its deserved attention. However, the specific roles that the family caregivers take have not been examined as much. The current study aimed to investigate the distribution of family caregivers' roles, particularly in a family-oriented culture, Korea. MATERIALS AND METHODS: A sample of 439 participants was recruited from 11 national and regional cancer centers in Korea. The participants who were 60 years old or above went through treatments for their gastric, colorectal, or lung cancer. The individual survey included questions regarding the family type, living arrangement, and the sources of support when it comes to their physical, emotional, financial, and decision-making needs. RESULTS: The responses from the participants showed that cancer caregiving is shared by multiple family caregivers; the major source of support for elderly cancer patients on diverse domains was their spouse; patients' reliance on their daughter(s) increased for emotional support; and patients' reliance on their son(s) stood out for financial support and decision-making support. Also, the older the patients were, the heavier their reliance was on the adult children, including sons, daughters, and daughters-in-law. CONCLUSION: Future support programs for elderly cancer patients are suggested to involve multiple family caregivers to encourage effective and efficient intervention. Also, the limitations of the current study and the suggestions for future research are discussed.
Adult Children ; Aged ; Caregivers ; Financial Support ; Humans ; Korea ; Lung Neoplasms ; Nuclear Family ; Republic of Korea ; Residence Characteristics ; Spouses

PURPOSE: The purpose of this study was to identify the impacts of human papillomavirus (HPV) vaccination-related health belief, attitudes toward HPV vaccination, and subjective norms on HPV vaccination intent targeting mothers of elementary school daughters. METHODS: The study use a correlative survey design. The subjects of the study were 121 mothers of elementary school daughters located in metropolitan city B. All subjects agreed to participate in the study. The data were collected from September 1 to October 18, 2018, and were analyzed using descriptive statistics, Independent t-test, ANOVA with a post hoc Scheffé test, Pearson's correlation coefficients, and stepwise multiple regression. RESULTS: Attitude toward HPV vaccination, subjective norms, vaccination plans for their children, and mother's vaccination status were significant factors influencing HPV vaccination intention. These factors accounted for 72% of the HPV vaccination intention. CONCLUSIONS: This study showed that factors affecting the intention of mothers of elementary school daughters to vaccinate against HPV were HPV vaccination attitudes, subjective norms, vaccination plans for their children, and mother's vaccination status. The biggest influencing factor was HPV vaccination attitudes. Therefore, in order to encourage mothers of elementary school daughters to vaccinate against HPVs, national-level policies should be implemented to create a social atmosphere of positive attitudes toward HPV vaccinations that also emphasizes how easy it is to get vaccinated against HPV. Based on this, mothers of elementary school daughters should be encouraged to have them vaccinated against HPV, thus contributing to improving the HPV vaccination rates of elementary school girls.
Atmosphere ; Child ; Female ; Humans ; Intention ; Mothers ; Nuclear Family ; Social Norms ; Vaccination

No abstract available.
Arthrodermataceae* ; Humans ; Mothers* ; Nuclear Family* ; Tinea*

PURPOSE: Human papillomavirus (HPV) vaccination has been included in the National Immunization Program in Korea since 2016. We aimed to evaluate changes in the awareness of and attitudes toward HPV vaccination, among adults in Korea since the first introduction of the vaccines in 2007. MATERIALS AND METHODS: A nationwide population-based survey was conducted in 2016 for 1,200 nationally representative Korean men and women; the data obtained were compared with the data from the nationwide survey conducted in 2007. RESULTS: A significant increase in the awareness of HPV infection (35.8%) and vaccination (36.9%) was observed in 2016 from 13.3% and 8.6% in 2007, respectively. Willingness to be vaccinated against HPV decreased from 55.0% in 2007 to 25.8% in 2016, and the proportion of respondents expressing uncertainty increased from 28.3% in 2007 to 43.3% in 2016. Only 12.1% of men and 22.0% of women knew about the free national HPV vaccination program for girls, launched in June 2016. Younger women, with higher income level, awareness of the HPV vaccine, and perception of the seriousness of infections had a higher willingness to be vaccinated. A high education level, awareness of HPV infection and vaccination, and perception of the seriousness of infection were positively associated with the willingness of respondents to vaccinate their daughters. CONCLUSION: Raising the awareness of HPV infection and vaccination with appropriate knowledge is necessary for the successful implementation of the national HPV vaccination program.
Adult* ; Education ; Female ; Humans* ; Immunization Programs ; Korea* ; Male ; Nuclear Family ; Surveys and Questionnaires ; Uncertainty ; Vaccination* ; Vaccines