BACKGROUND: Few prospective studies have investigated the association between paternal occupational exposures and risk of infant congenital heart defects (CHDs). We investigated the associations between paternal occupational exposures, frequency of use, and concurrent or sequential exposure to a mixture of compounds and the risk of infant CHDs. METHODS: Our study examined 28,866 participants in the Japan Environment and Children's Study. Logistic regression analysis was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) associated with paternal occupational exposures during the 3 months until pregnancy was noticed after adjustment for potential confounding factors of the infant CHDs. CHD diagnosis was ascertained from medical record. RESULTS: In total, 175 were diagnosed with infant CHDs. The number of fathers who were exposed to the following substances at least once a month were: 11,533 for photo copying machine/laser printer, 10,326 for permanent marker, 8,226 for soluble paint/inkjet printer, 6,188 for kerosene/petroleum/benzene/gasoline, 4,173 for organic solvents, 3,433 for chlorine bleach/germicide, 2,962 for engine oil, 2,931 for insecticide, 2,460 for medical sterilizing disinfectant, 1,786 for welding fumes, 1,614 for dyestuffs, 1,247 for any products containing lead-like solder, 986 for herbicide, 919 for radiation/radioactive substances/isotopes, 837 for lead-free solder, 341 for microbes, 319 for formalin/formaldehyde, 301 for agricultural chemical not listed above or unidentified, 196 for general anesthetic for surgery at hospital, 171 for anti-cancer drug, 147 for chromium/arsenic/cadmium, 88 for mercury and 833 for other chemical substances. Paternal occupational exposure regularly to photo copying machine or laser printer and soluble paint/inkjet printer were associated with higher risks of infant CHDs: the adjusted ORs (95%CIs) were 1.38 (1.00-1.91) and 1.60 (1.08-2.37), respectively. The higher risks were also observed for occasional exposure to engine oil, any products containing lead-like solder lead-free solder, and microbes; the adjusted ORs (95%CIs) were 1.68 (1.02-2.77), 2.03 (1.06-3.88), 3.45 (1.85-6.43), and 4.51, (1.63-12.49), respectively. CONCLUSIONS Periconceptional paternal occupational exposure was associated with a higher risk of infant CHDs. Further studies using biomarkers of the association between paternal occupational exposure and infant CHDs are warranted.
Male ; Humans ; Infant ; Child ; Japan/epidemiology* ; Prospective Studies ; Risk Factors ; Case-Control Studies ; Occupational Exposure/adverse effects* ; Heart Defects, Congenital/epidemiology* ; Fathers

OBJECTIVE: To analyze variants of SMN gene in a Chinese pedigree affected with Spinal muscular atrophy (SMA). METHODS: A Chinese pedigree diagnosed at the Nanchang First Hospital in January 2020 was selected as the study subject. Peripheral blood samples were collected for the extraction of DNA. All exons of the SMN gene were detected by multiple ligation-dependent probe amplification (MLPA). Potential variants of the SMN gene were also detected by Whole exome sequencing (WES), and the result was verified by Sanger sequencing. cDNA extracted from fresh blood sample was used as a template to verify the location of variant on the SMN genes. RESULTS: The proband was found to harbor a heterozygous deletion of the SMN1 Exon7+Exon8, and a heterozygous c.81G>A variant. The SMN1 Exon7+Exon8 deletion was inherited from her father and grandmother, whilst the c.81G>A variant was inherited from her mother and maternal grandfather. Her aunt was also a carrier of the heterozygous deletion, while her paternal aunt, her husband, and their daughter were not. cDNA amplification and Sanger sequencing confirmed that the c.81G>A variant was located in the SMN1 gene. CONCLUSION MLPA combined with NGS and Sanger sequencing can identify compound heterozygous variants of the SMN gene in the SMA patients.
Female ; Humans ; Male ; DNA, Complementary ; East Asian People ; Fathers ; Mothers ; Muscular Atrophy, Spinal/diagnosis* ; Pedigree ; Survival of Motor Neuron 1 Protein/genetics*

Becoming a parent is a significant life transition accompanied by various experiences and emotions that may be both fulfilling and rewarding, as well as challenging and stressful for both the mother and father. Mercer's theory of becoming a mother provides a framework for mothers' adaptation and role attainment throughout the perinatal period. However, a theoretical gap exists surrounding fathers' adaptability and role attainment, as fathers are frequently forgotten, and their experiences are overlooked. Although becoming a father can be a rewarding or satisfying experience that results in positive changes in men's lives, some fathers experience concerns and contradictions as a result of a shift in their roles, responsibilities, and social expectations, which result in maladaptation and mental health challenges. Given the significance of fathers in the family, community, and society, this concept analysis aimed to bridge the gap by proposing a theory that will guide fathers in successfully adapting to and reaching a solid role identity. The concept analysis methodology from Walker and Avant (2011) was utilized to define the concept of paternal adaptation and role attainment, attributes, antecedents, consequences, cases, and empirical referents. This paper concludes that perinatal fathers' adaptability and role attainment improve psycho-emotional, cognitive, relational, and behavioral outcomes, improving paternal-maternal-infant quality of life and developmental products when influenced by positive personal resources, adequate family, friends support, and community resources. Given the implications of paternal maladaptation on the family, a theoretical framework for fathers is crucial. Hence, the theory of paternal adaptation and role attainment is proposed.
Pregnancy ; Mothers ; Fathers ; Motivation

OBJECTIVES: To derive the paternity index (PI) calculation formula of the alleged father (AF) when the AF is a relative (parent/child, siblings, grandparent/grandchild, uncle/nephew, first cousins) of the child's biological mother. METHODS: For the case when the AF is related to the child's biological mother, the existence of the relationship in the numerator and denominator hypothesis of PI was considered. The genotype frequency of the AF was calculated by using the frequency formula in which the mother's genotype was considered, while the random male in the denominator was substituted as another relative of the mother's same rank. The PI calculation formula was derived to eliminate the effect of the relationship between AF and the child's biological mother. RESULTS: When the AF and the biological mother have first, second and tertiary kinship, a more conservative PI was obtained from the PI calculation formula derived in this study compared with the PI calculation method which did not consider kinship. CONCLUSIONS The calculation method provided in this study can eliminate the effect of the relation of the AF and mother on the PI in incest cases, to obtain more accurate and conservative identification conclusions.
Female ; Humans ; Male ; Child ; Paternity ; Mothers ; Genotype ; Fathers

Objective: To explore the role of parental reproductive age on the risk of overweight and obesity in offspring. Methods: The participants were derived from physical examination data of students aged 6-18 years in seven provinces in China, and questionnaire survey was used to collect demographic characteristics and lifestyle information of the students and their parents. A total of 41 567 children with complete data were included. According to the restricted cubic spline curve, maternal reproductive age was divided into three categories, 14-23, 24-28, and 29-38 years, and paternal reproductive age was divided into 14-23, 24-30, and 31-42 years. Multivariate logistic regression model was used to analyze the association between parental reproductive age and parental nutritional status and the risk of overweight and obesity in offspring. Results: The mean age of 41 567 children was (10.6±3.2) years, and the mean paternal and maternal age were (27.9±4.4) years and (25.8±4.0) years, respectively. The detection rate of overweight and obesity was 23.4%. After adjusting factors of children diet and behaviors, the OR(95%CI)of offspring overweight and obesity in groups of fathers aged 24-30 years and mothers aged 24-28 years was 1.11 (1.04-1.18) and 1.16 (1.08-1.24), respectively. When none parents were overweight and obese, the difference of obesity risk was not statistically significant. When both parents were overweight and obese, the OR(95%CI)of offspring overweight and obesity in groups of fathers aged 24-30 years and mothers aged 14-28 years old was 1.27 (1.00-1.62) and 1.33 (1.07-1.65) respectively. Conclusion: Parental reproductive age and parental overweight and obesity status may both increase the risk of overweight and obesity in offspring, with a significant interaction effect.
Adolescent ; Adult ; Child ; Fathers ; Female ; Humans ; Male ; Mothers ; Obesity/epidemiology* ; Overweight/epidemiology* ; Risk Factors ; Young Adult

OBJECTIVE: To explore the phenotypic characteristics of paternal chromosomal simplex 3q microduplication syndrome. METHODS: Amniotic fluid samples of 3 fetuses from a same couple were subjected to prenatal diagnosis through combined high-resolution chromosomal G-banding karyotyping and chromosomal microarray analysis (CMA). Peripheral blood samples were also collected the couple for the determination of parental origin. RESULTS: The karyotypes of all three fetuses were 46,XN,dup(3)(q25q26.1), and their CMA results were arr[hg19]3q25.33q26.1(159 336 333-166 924 969)×3. The duplication in the three fetuses have all derived from their father. No anomaly with found with the mother by CMA . CONCLUSION Through combined G-banded chromosomal karyotyping and CMA assay, a paternally derived 3q25.33-q26.1 microduplication has been identified, which has enabled genetic counseling for this couple.
Female ; Pregnancy ; Humans ; Male ; Prenatal Diagnosis ; Genetic Testing ; Fetus ; Syndrome ; Mothers ; Fathers

BACKGROUND: The prevalence of obesity and overweight in childhood has increased dramatically over the past decades globally. Thus, the risk factors of overweight and obesity in children and adolescents must be studied. OBJECTIVES: This study aimed to reveal the prevalence of childhood obesity and examine the relationship between socioeconomic status (SES) and z-body mass index (z-BMI) via parental obesity and dietary intake using path analysis. METHODS: Stratified cluster sampling was used to select 17,007 participants aged 6-12 years on two avenues per region in urban, suburban, and rural areas. Path analysis was conducted to examine the mediators between SES and z-BMI. RESULTS: The prevalence rates of overweight and obesity were 13.36% and 8.60%, respectively, and were positively correlated with the father's education level, family income, a birth weight > 3000g, a parental obesity history, vegetable intake and red meat intake (all P < 0.05). Four mediators (paternal obesity history, red meat intake, vegetable intake, and nutritional supplements) were observed, and the four path analyses were significant (all P < 0.05). The adjusted total effects on z-BMI were significant for income (β CONCLUSIONS The prevalence of overweight/obesity in children was notable, and the relationship between SES and z-BMI was mediated by paternal obesity history and dietary intake.
Child ; China/epidemiology* ; Cross-Sectional Studies ; Eating/psychology* ; Fathers/statistics & numerical data* ; Female ; Humans ; Male ; Obesity/psychology* ; Pediatric Obesity/etiology* ; Social Class

OBJECTIVE: To investigate the influence of genetic and environmental factors on aggressive behavior in twin children, and to provide clues for further exploring the causal relationship between such factors and aggressive behavior. METHODS: A questionnaire was used to investigate aggressive behavior, temperament type and parenting style among 261 twin children aged 4-12.8 years. The Holzinger method and the maximum likelihood method were used to construct a structural equation model for the estimation of heritability. Binary logistic regression analysis, multivariate linear regression analysis and general linear model analysis were used to analyze the association between aggressive behavior and environmental factors in twin children. RESULTS: The heritability of aggressive behavior was 44.4% in twin children and the score of aggressive behavior showed moderate heritability (60.9% in boys and 65.6% in girls). The multivariate analysis showed that the score of aggressive behavior in twin children was affected by the mother's emotional warmth/understanding, the mother's punishment/severity and the father's overprotection (P<0.05). There was an interaction between the mother's emotional warmth/understanding and the father's overprotection (P<0.05). CONCLUSIONS Both genetic and environmental factors have influence on children's aggressive behavior, and parenting style is the main environmental factor affecting the aggressive behavior of twin children.
Child ; Child Behavior ; Child, Preschool ; Fathers ; Female ; Humans ; Male ; Mothers ; Parenting ; Surveys and Questionnaires ; Twins

A male patient weighing 2.5 kg was admitted for respiratory difficulty, and a large ventricular septal defect (VSD) was diagnosed. During care, sudden right leg swelling with a femur shaft fracture occurred. The patient's father had a history of recurrent lower extremity fractures; thus, osteogenesis imperfecta was considered. The patient's respiratory difficulty became aggravated, and VSD repair in the neonatal period was therefore performed with gentle sternal traction and great vessel manipulation under total intravenous anesthesia to prevent malignant hyperthermia. The patient was discharged without notable problems, except minor wound dehiscence. Outpatient genetic testing revealed that the patient had a COL1A1/COL1A2 mutation.
Anesthesia, Intravenous ; Fathers ; Femur ; Genetic Testing ; Heart Septal Defects, Ventricular ; Humans ; Infant, Newborn ; Leg ; Lower Extremity ; Male ; Malignant Hyperthermia ; Osteogenesis Imperfecta ; Osteogenesis ; Outpatients ; Thoracic Surgery ; Traction ; Wounds and Injuries

Cryopyrin-associated periodic syndrome (CAPS) is a hereditary autoinflammatory syndrome caused by mutations in NLRP3 (encoding cryopyrin), which presents with fever, fatigue and arthralgia. Thus far, however there have been no reports of CAPS in Korea. Herein, we report 3 cases of CAPS for the first time in Korea. The first case, a 28-year-old man with recurrent urticaria, arthralgia and fever induced by cold, all of which were observed in his father, showed elevated erythrocyte sedimentation rate and C-reactive protein. He exhibited a p.Gly303Asp variant of the NLPR3 gene. The second case, a 2-year-old girl who had recurrent urticaria, arthritis and oral and genital ulcers, was positive for HLA B51 and a p.Glu569Lys mutation in exon 3 of the NLRP3 gene. Administration of anakinra greatly improved her symptoms. The third case, a 4-year-old boy who presented with recurrent urticaria, arthralgia, and fever, exhibited a p.Val72Met mutation in exon 1 of the NLRP3 gene. Administration of tocilizumab improved all of his symptoms. This small case series suggests that clinicians consider CAPS and conduct genetic studies when arthralgia and fever are accompanied by urticaria in Korea.
Adult ; Arthralgia ; Arthritis ; Blood Sedimentation ; C-Reactive Protein ; Child, Preschool ; Cryopyrin-Associated Periodic Syndromes ; Exons ; Fathers ; Fatigue ; Female ; Fever ; Humans ; Interleukin 1 Receptor Antagonist Protein ; Korea ; Male ; Ulcer ; Urticaria