Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of MODY-2 identified during the investigation of asymptomatic hyperglycemia. A 12-year-old girl with a familiar history of diabetes (mother, maternal aunt, and maternal grandfather) was referred due to hypercholesterolemia, abnormal fasting glucose (114 mg/dL), and increased levels of glycated haemoglobin (HbA(1c)) (6%) presenting with negative β-cell antibodies. A glucokinase (GCK) heterozygous missense mutation c.364C>T (p.Leu122Phe) in exon 4 was identified in the index patient and in the 3 family members. An obese 9-year-old boy was investigated for elevated fasting glycemic levels (99–126 mg/dL), HbA(1c) rise (6.6%–7.6%), and negative β-cell antibodies. The patient's father, paternal aunt, and paternal grandfather had a history of diabetes during their childhood. A GCK heterozygous missense mutation c.698G>A (p.Cys233Tyr) in exon 7 was identified in the index patient. This variant was only described in another family strongly affected by both MODY and classic autoimmune mediated diabetes, contrary to our case. MODY-2 should be suspected in the presence of early onset of persistent mild fasting hyperglycemia and negative β-cell antibodies associated with a positive family history of diabetes. These cases illustrate the challenging aspects of MODY diagnosis due to possible phenotypic overlap with other types of diabetes. The diagnosis requires a high level of suspicion and GCK genetic screening should be performed in the presence of compatible features. An early diagnosis allows for appropriate management, genetic counselling, and the identification of affected family members.
Antibodies ; Child ; Diabetes Mellitus, Type 2 ; Diagnosis ; Early Diagnosis ; Exons ; Fasting ; Fathers ; Female ; Genetic Testing ; Glucokinase ; Glucose ; Grandparents ; Humans ; Hypercholesterolemia ; Hyperglycemia ; Male ; Mutation, Missense

We constructed the family tree database (DB) by using a new family code system that can logically express interpersonal family relationships and by comparing and complementing health insurance eligibility data and resident register data of the National Health Information Database (NHID). In the family tree DB, Parents and grandparents are matched for more than 95% of those who were born between 2010 and 2017. Codes for inverse relationships and extended relationships are generated using sequences of the three-digit basic family codes. The family tree DB contains variables such as sex, birth year, family relations, and degree of kinship (maximum of 4) between subjects and family members. Using the family tree DB, we find that prevalence rates of hypertension, diabetes, ischemic heart disease, cerebrovascular disease, and cancer are higher for those with family history. The family tree DB may omit some relationships due to incomplete past data, and some family relations cannot be uniquely determined because the source data only contain relationships between head and members of the household. The family tree DB is a part of the NHID, and researchers can submit requests for data on the website at http://nhiss.nhis.or.kr. Requested data will be provided after approval from the data service review board. However, the family tree DB can be limitedly provided for studies with high public value in order to maximize personal information protection.
Cerebrovascular Disorders ; Complement System Proteins ; Computer Security ; Family Characteristics ; Family Relations ; Grandparents ; Head ; Humans ; Hypertension ; Insurance, Health ; Interpersonal Relations ; Korea ; Logic ; Myocardial Ischemia ; Parents ; Parturition ; Pedigree ; Prevalence

BACKGROUND: Several contradictory studies exist on the relationship between raising grandchildren and the grandparent's health. The present study identified the association between raising grandchildren and depression among Korean grandparents.METHODS: The wave 1 (2006) and wave 2 (2008) databases of the Korean longitudinal study on aging (KLoSA) were analyzed. T-test and chi-square test were used to compare the demographics and health condition variable between the two groups based on the presence or absence of raising grandchildren. Logistic regression analysis, including demographics and health conditions, was conducted to identify the relationship between depression and raising grandchildren. Depression was assessed using the Center for Epidemiologic Studies Depression scale (CES-D-10).RESULTS: In all, 4,784 participants (4,636: not raising grandchildren; 148: raising grandchildren) were examined. Significantly lower CES-D-10 scores (3.34 vs. 4.35, P<0.001), and therefore, lower depression (25% vs. 39.9%, P<0.001) was found among grandparents raising grandchildren than those who did not raise grandchildren. After adjusting the confounding variables through logistic regression analysis, the odds ratio of depression when raising grandchildren was 0.57 (95% confidence interval=0.37–0.89), which indicates significant relevance.CONCLUSION: The results show lower depressive symptoms among grandparents raising grandchildren. Even after adjusting the variables, the results presented a lower risk of depression among them.
Adult ; Aging ; Confounding Factors (Epidemiology) ; Demography ; Depression ; Epidemiologic Studies ; Grandparents ; Humans ; Logistic Models ; Longitudinal Studies ; Odds Ratio

PURPOSE: The purpose of this study was to investigate working mothers' satisfaction with non-maternal infant care, social support, and the relationships thereof with variables including parenting efficacy. METHODS: A total of 116 working mothers who had experiences of infant non-maternal care were recruited from online communities of working mothers, and 93 participants were ultimately included in this study. Data were collected using self-report questionnaires in March 2018. Descriptive statistics, ANOVA and Pearson correlation coefficients were used for analysis. RESULTS: Satisfaction with non-maternal care showed positive correlations with social support from others (r=0.52, p < 0.001), and parenting efficacy (r=0.39, p < 0.001). There was a significant positive correlation between social support from others and parenting efficacy (r=0.32, p=0.002). Satisfaction with non-maternal care was relatively high (86.27%), and it was highest when non-maternal care was provided by the maternal grandparents. The mean score for social support from others was 36.49±8.86. CONCLUSION: To increase satisfaction with non-maternal care, education for non-maternal caregivers and social support programs for working mothers are required.
Caregivers ; Education ; Grandparents ; Humans ; Infant ; Infant Care ; Infant ; Mothers ; Parenting ; Parents

Hansen's disease (leprosy) is a chronic infectious disease caused by Mycobacterium leprae which affect mainly skin and nerve systems. Currently the incidence of leprosy reached the goals set by WHO in the year 2000. In recent 10 years, only 47 new patients were found in Koreans and their average age was over 70. A 21 year-old young man showed multiple erythematous papules, macules and plaque at face, extremities and trunk. In family history, his grandfather was diagnosed with leprosy at young age and leprosy was recurred when the patient was 7 years old. The patient lived with grandfather from birth to 7 years old. Clinico-pathologically he was diagnosed with a lepromatous leprosy. We performed VNTR both at the skin tissue of grandfather and patient to find out the infection pathway of the patient and found some consistent. Herein, we report a new case of young Korean male transmitted from grandfather.
Communicable Diseases ; Extremities ; Grandparents ; Humans ; Incidence ; Leprosy* ; Leprosy, Lepromatous ; Male ; Minisatellite Repeats ; Mycobacterium leprae ; Parturition ; Skin

Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also for autosomal dominant short stature with normal to advanced bone age. We report a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature identified through targeted exome sequencing. We present a girl of 4 years and 9 months with a family history of short stature over three generations. The paternal grandmother is 143 cm tall (−3.8 as a Korean standard deviation score [SDS]), the father 155 cm (−3.4 SDS), and the index case 96.2 cm (−2.9 SDS). Evaluation for short stature showed normal growth hormone (GH) peaks in the GH provocation test and a mild delayed bone age for chronological age. This subject had clinical characteristics including a triangular face, flat nasal bridge, prognathia, blue sclerae, and brittle teeth. The targeted exome sequencing was applied to detect autosomal dominant growth palate disorder. The novel variant c.910G>A (p.Asp304Asn) in ACAN was identified and this variant was found in the subject's father using Sanger sequencing. This is the first case of Korean familial short stature due to ACAN mutation. ACAN should be considered for proportionate idiopathic short stature, especially in cases of familial short stature.
Aggrecans ; Exome ; Extracellular Matrix ; Family Characteristics ; Fathers ; Female ; Grandparents ; Growth Hormone ; Growth Plate ; Humans ; Palate ; Proteoglycans ; Sclera ; Tooth

PURPOSE: This study was to examine the level of aging knowledge, family strengths and ageism in addition to identify the influence of ageism among nursing students. METHODS: The participants were 235 nursing students at a university. Data were collected from May 14, to June 8, 2018. Data were analyzed with t-test, One-way ANOVA, Pearson's correlation coefficient and stepwise multiple regression using the SPSS/WIN 22 program. RESULTS: Average score in ageism was 41.41±7.65, indicating the moderate to severe level of ageism. Ageism of nursing students was negatively correlated with ageing knowledge and family strengths. The significant predictors for ageism in nursing students were experience of living with grandparents (β=−.21, p=.001), family strengths (β=−.20, p=.002), ageing knowledge (β=−.15, p=.022), grade (β=.13, p=.040). CONCLUSION: Based on these results, it is necessary to develop and apply an educational program to improve the awareness of ageism among nursing students.
Ageism* ; Aging ; Grandparents ; Humans ; Nursing* ; Students, Nursing*

BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family. METHODS: Whole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control. RESULTS: We selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained. CONCLUSION: Among them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.
Alleles ; Brachydactyly* ; Carrier Proteins ; Congenital Abnormalities ; DNA ; Exome ; Fathers ; Fingers ; Foot ; Genetic Background ; Grandparents ; Hand ; Humans ; Metacarpal Bones ; Metatarsal Bones ; Mothers ; Parathyroid Hormone ; Parathyroid Hormone-Related Protein ; Penetrance ; Pseudopseudohypoparathyroidism* ; Toes

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.
Amniocentesis ; Female ; Fetus ; Grandparents ; Heterochromatin* ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Maternal Age ; Mothers ; Nuclear Family ; Phenotype ; Pregnancy ; Prenatal Diagnosis* ; Sequence Tagged Sites ; Y Chromosome*

PURPOSE: Tuberculosis (TB) is a common and possibly fatal infectious disease, and its incidence and prevalence is quite high in Korea compared to other Organization for Economic Co-operation and Development countries. Patients who have active TB can cause latent tuberculosis infection (LTBI) in children, which may progress to reactivated tuberculosis. This study was performed to analyze the risk of adult TB that affects children's LTBI. METHODS: From June 2013 to May 2014, 60 children (32 boys, 28 girls) who came into close contact with adult patients diagnosed with pulmonary TB underwent LTBI tests. The children were divided into the 2 groups: the first group was finally diagnosed to LTBI, and the second group was proven not to have LTBI. We compared the risk of adult patients with pulmonary TB between children with LTBI and those without through a medical record review. RESULTS: The number of adult patients with TB was 36 (father 68%, mother 23%, grandparents 8%). The patients who came into close contact with the LTBI group were older (47.0±12.8 years vs. 41.3±6.6 years) and had higher erythrocyte sedimentation rate (ESR) levels than those of the second group. The rate of negative acid-fast-bacilli smear with positive culture results in patients who came into contact with the LBTI group was higher than in the second group. The cutoff value of ESR for the diagnosis of LTBI was 31 mm/hr with a sensitivity of 0.75 and a specificity of 0.85 (area under curve=0.748). CONCLUSION: Adult pulmonary TB patients who are older and have higher ESR levels may be risk factors for LTBI in children coming into close contact with them.
Adult ; Blood Sedimentation ; Child* ; Communicable Diseases ; Diagnosis ; Family Characteristics* ; Grandparents ; Humans ; Incidence ; Korea ; Latent Tuberculosis* ; Medical Records ; Mothers ; Prevalence ; Risk Factors* ; Sensitivity and Specificity ; Tuberculosis ; Tuberculosis, Pulmonary*