• Journal of Genetic Medicine
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• v.19 no.1
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• pp.22-26
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• 2022

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

• Journal of Korean Neurosurgical Society
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• v.66 no.2
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• pp.190-198
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• 2023

Objective : Low back pain (LBP) is a global health problem that affects the productivity of the patients. Several factors such as individual, occupational, and psychosocial factors increase the risk of LBP. However, only a few studies investigated those factors, especially in middle adulthood in Indonesia. Indonesia is a country with a young population that has been rapidly developing in recent years. This study was conducted to find out the factors associated with LBP in middle adulthood. Methods : This study is a cross-sectional observational analytic study using a convenience sampling method with a total sample of 3005 respondents. Data were collected using a questionnaire which was then analyzed using the chi-square test, Kolmogorov-smirnov, Spearman's Rank, and logistic regression test. Results : From the result of this study, it was found that the 12-month prevalence of LBP in middle-aged adults was 44,29%. Female (odds ratio [OR], 1.3; 95% confidence interval [Cl], 1.098-1.545; p=0.002), lack of physical exercises (OR, 0.87; 95% Cl, 0.794-0.959; p=0.005), high body mass index (OR, 1.09; 95% Cl, 1.009-1.187; p=0.002), stress level (OR, 1.26; 95% Cl, 1.088-1.458; p=0.002), and years of work experience (OR, 1.1; 95% Cl, 1.001-1.225; p=0.047) were determined as risk factors that significantly associated with LBP. Conclusion : LBP is quite common among middle-aged adults in Indonesia. Female gender, higher body mass index, lack of physical activity, stress level, and years of work experience were all potential risk factors for LBP in middle-aged adults. Middle-aged adults in Indonesia should be aware of LBP and avoid disabilities by identifying risk factors that may worsen LBP in the future.

• Korean Journal of Culture and Social Issue
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• v.10 no.1
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• pp.31-82
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• 2004

The purpose of this study was development of a synthetic scale to measure young adults' views of life and death. Participants were 610 university students. The authors developed a View of Life and Death Scale including several subscales of afterlife views(belief in afterlife and retribution, belief in souls' effects and transmigration), meanings of death(liberation, nature, integration, collapse, impact, futility), death anxiety, death concern(death acceptance, death awareness) and life respect will(suicide inhibition, abortion inhibition, organ donation intention). The present study contributed to enhance our understanding of view of life and death in young adulthood. This study, therefore, could work as a stepping stone to investigate the structural relationship among elements included in views of life and death in young adulthood and to explore the consequences and determinants of personal view of life and death.

• Journal of Families and Better Life
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• v.20 no.3
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• pp.39-47
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• 2002

This study analyses young adults'perceptions of the meanings and motivations of parenthood. It also verifies the relationship between the meanings and motivations of parenthood by young adults. The sample population included 311 university students. Our findings show that young adults perceived parenthood variously as a personal lifestyle, and as an statement of social maturation and sound mind and of marital satisfaction. There were no differences by gender in their perceptions on the meaning of parenthood. As for the motivation to become parents, strengthening biological family ties, traditional norms, emotional and altruistic reasons, deepening marital bonds, and perpetuating one's self through the passing on of genes. Among these, altruistic-emotional motivation and marital cohesion were stronger than other motivations. Finally, we provide recommendations for future research.

• Journal of Families and Better Life
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• v.14 no.4
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• pp.191-202
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• 1996

This research applied an attachment theory to the study of three generations of women. Questionnaire and semistructured interview techniques were employed to collect the data on intergenerational mother-daughter relationships from 140 triads of adolescent daughters middle-aged mothers an old-aged grandmothers. The focus of the study had been on the characteristics of attachment patterns which is measured by sense of attachment and autonomy across and within generations and their effects on personal well-being. Women in each their three generations perceived a high and seminilar level of attachment across and within the generations. On the other hand the level of autonomy differed by the generations with middle-aged mothers showing a higher level of perceived sense of autonomy than other two generations. Although the levels of attachment and autonomy were related to psychological well-being the level of autonomy was slightly more related to it. The results also showed that not nly one's own attachment toward mother/daughter but attachment of others toward herself were associated with the personal well-being. Overall this study reflects and supports the basis concepts of mother-daughter attachment: its continuity reciprocity and personal development in adulthood.

• Clinical and Experimental Pediatrics
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• v.53 no.7
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• pp.729-734
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• 2010

Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than 50% of abdominal masses found in neonates and involve about 0.5% of all pregnancies. CAKUT has a major role in renal failure, and increasing evidence suggests that certain abnormalities predispose to the development of hypertension and cardiovascular disease in adulthood. To understand the pathogenesis of human renal anomalies, understanding the development of kidney is important. Diverse anomalies of the kidney corresponding to defects at a particular stage of development have been documented recently; however, more research is required to understand the molecular networks underlying kidney development, and such an investigation will provide a clue to the therapeutic intervention for CAKUT.

• Korean Journal of Biological Psychiatry
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• v.2 no.2
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• pp.295-300
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• 1995

Late-onset schizophrenia(LOS) is a controversial entity. It has been thought that onset of schizophrenia is limited to early adulthood, but many European psychiatrists have reported on the occurrence of schizophrenia in late life. DSM-III restricted the diagnosis of schizophrenia to patients with onset of illness before age 45 years. But, DSM-III-R, DSM-IV, and ICD-10 recognize no upper limit to the age at onset of schizophrenia. Patients with LOS have more visual, tactile, and olfactory hallucinations. Patients with LOS have more persecutory delusions, premorbid schizoid personality traits, and less affective blunting. The course of illness was favorable in LOS. We present four cases of LOS. Their detailed clinical features are reported hear with brief review.

• Journal of Yeungnam Medical Science
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• v.37 no.4
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• pp.341-344
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• 2020

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

• Korean Journal of Child Studies
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• v.9 no.1
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• pp.19-32
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• 1988

The purpose of the present study was to investigate the view that animism is a result of immature concepts of life. Two studies were conducted for this purpose Study I examined developmental trends in animistic thinking and Study II examined children's knowledge of living things. The subjects of Study I were 10 males and 10 females at each level, 6, 8, 11 and 14 years of age and university students, for a total of 100 subjects. The subjects of Study II were 9 boys and 9 girls at each age level, 6, 7 and 8 years of age and university students, for a total of 78 subjects. According to the results of study I and study II, animistic thinking decreased up to middle childhood but increased at later childhood and adulthood. The conception of living things was acquired at 7 years of age. All things considered, there was no evidence that animism is a result of immature concepts of life.

• Korean Journal of Psychosomatic Medicine
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• v.4 no.2
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• pp.277-285
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• 1996

Somatoform disorders do occur among children and adolescents. Among the seven disorders under the grouping of somatoform disorders of DSM-IV, three disorders, namely somatization disorder, pain disorder and conversion disorder are seen relatively more often than one can expect in childhood and adolescence. Pain disorders are more prevalent among children before adolescence, whereas conversion disorder and somatoform disorder are seen more often during adolescence and early adulthood. Diagnoses of somatofram disorders should not be made by the process of exclusion, but based on positive findings that positive evidence that normal functioning is possible and that a positive history of psychosocial stress and or intrapsychic conflict exists. Treatment strategy should be mindful of including collaboration with primary care health professionals and family therapy staff in addition to all the basic treatment modalities essential for the treatment of children and adolescents.