With the economic development and living standards improvement, various chronic viral liver diseases in children is decreasing year by year, and the liver diseases related to heredity, environment and living habits is increasing. Although liver disease in children is relatively rare and is not the main cause of childhood mortality, chronic liver disease cannot be ignored for its effect on children's growth and development, mental health, quality of life and the economic burden to family or society. Therefore, more attention should be paid to the early screening, diagnosis and treatment of pediatric liver diseases, in order to delay or prevent its progression efficiently.
Child ; Disease Progression ; Heredity ; Humans ; Liver Diseases/epidemiology* ; Quality of Life

The nineteenth century neuroscience studied the instinct of animal to understand the human mind. In particular, it has been found that the inheritance of unconscious behavior like instinct is mediated through ganglion chains, such as the spinal cord or sympathetic nervous system, which control unconscious reflexes. At the same time, the theory of Inheritance of Acquired Characteristics (hereafter ‘IAC’) widely known as Lamarck's evolutionary theory provided the theoretical frame on the origin of instinct and the heredity of action that the parental generation's habits were converted into the nature of the offspring generation. Contrary to conventional knowledge, this theory was not originally invented by Lamarck, and Darwin also did not discard this theory even after discovering the theory of natural selection in 1838 and maintained it throughout his intellectual life. Above all, in the field of epigenetics, the theory of ‘IAC’ has gained attention as a reliable scientific theory today. Darwin discovered crucial errors in the late 1830s that the Lamarck version's theory of ‘IAC’ did not adequately account for the principle of the inheritance of unconscious behavior like instinct. Lamarck's theory regarded habits as conscious and willful acts and saw that those habits are transmitted through the brain to control conscious actions. Lamarck's theory could not account for the complex and elaborate instincts of invertebrate animals, such as brainless ants. Contrary to Lamarck's view, Darwin established the new theory of ‘IAC’ that could be combined with contemporary neurological theory, which explains the heredity of unconscious behavior. Based on the knowledge of neurology, Darwin was able to translate the ‘principle of habit’ into a neurological term called ‘principle of reflex’. This article focuses on how Darwin join the theory of ‘IAC’ with nineteenth century neuroscience and how the neurological knowledge from the nineteenth century contributed to Darwin's overcoming of Lamarck's ‘IAC’. The significance of this study is to elucidate Darwin's notion of ‘IAC’ theory rather than natural selection theory as a principle of heredity of behavior. The theory of ‘IAC’ was able to account for the rapid variation of instincts in a relatively short period of time, unlike natural selection, which operates slowly in geological time spans of tens of millions of years. The nineteenth century neurological theory also provided neurological principles for ‘plasticity of instinct,’ empirically supporting the fact that all nervous systems responsible for reflexes respond sensitively to very fine stimuli. However, researchers of neo-Darwinian tendencies, such as Richard Dawkins and evolutionary psychologists advocating the ‘selfish gene’ hypothesis, which today claim to be Darwin's descendants, are characterized by human nature embedded in biological information, such as the brain and genes, so that it cannot change at all. This study aims to contribute to reconstructing the evolutionary discourse by illuminating Darwin's insights into the “plasticity of nature” that instincts can change relatively easily even at the level of invertebrates such as earthworms.
Animals ; Ants ; Brain ; Epigenomics ; Ganglion Cysts ; Heredity ; Human Characteristics ; Humans ; Instinct ; Invertebrates ; Nervous System ; Neurology ; Neurosciences ; Oligochaeta ; Parents ; Psychology ; Reflex ; Selection, Genetic ; Spinal Cord ; Sympathetic Nervous System ; Transcutaneous Electric Nerve Stimulation ; Wills

OBJECTIVE: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort. METHODS: Over an 8-year period, 140 patients with cerebellar ataxia were observed. There were 109 patients with sporadic cerebellar ataxia (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-MSA-C sporadic cerebellar ataxia) and 31 patients with familial cerebellar ataxia. We performed gene analysis comprising SCA1, 2, 3, 6, 7, 8, 12, 17, 31, and dentatorubro-pallidoluysian atrophy (DRPLA) in 28 of 31 non-MSA-C sporadic patients who requested the test. Familial patients served as a control. RESULTS: Gene abnormalities were found in 57% of non-MSA-C sporadic cerebellar ataxia cases. Among patients with sporadic cerebellar ataxia, abnormalities in SCA6 were the most common (36%), followed by abnormalities in SCA1 (7.1%), SCA2 (3.6%), SCA3 (3.6%), SCA8 (3.6%), and DRPLA (3.6%). In contrast, gene abnormalities were found in 75% of familial cerebellar ataxia cases, with abnormalities in SCA6 being the most common (29%). For sporadic versus familial cases for those with SCA6 abnormalities, the age of onset was older (69 years vs. 59 years, respectively), and CAG repeat length was shorter (23 vs. 25, respectively) in the former than in the latter (not statistically significant). CONCLUSION: Autosomal-dominant mutations in SCA genes, particularly in SCA6, are not rare in sporadic cerebellar ataxia. The reason for the frequency of mutations in SCA6 remains unclear; however, the reason may reflect a higher age at onset and variable penetrance of SCA6 mutations.
Age of Onset ; Asian Continental Ancestry Group* ; Atrophy ; Cerebellar Ataxia ; Cohort Studies* ; Diagnosis ; Family Characteristics ; Genetic Testing* ; Heredity ; Humans ; Multiple System Atrophy ; Penetrance ; Spinocerebellar Ataxias*

Obesity that caused by high-fat diet, heredity, drinking, or lack of exercise is related to metabolic syndrome, insulin resistance, type 2 diabetes and cardiovascular disease and it becomes a serious social problem. Although obesity shows low-grade chronic inflammation which induces from immune response in adipose tissue, relation between inflammation and pathogenesis of obesity has not been incompletely understood. Therefore, study for immune response in obesity is essential to design effective therapeutic strategy.
Adipose Tissue ; Cardiovascular Diseases ; Diet, High-Fat ; Drinking ; Heredity ; Inflammation* ; Insulin Resistance ; Obesity* ; Social Problems

Alpha-synuclein is a small neuronal protein that is closely associated with the etiology of Parkinson's disease. Mutations in and alterations in expression levels of alpha-synuclein cause autosomal dominant early onset heredity forms of Parkinson's disease, and sporadic Parkinson's disease is defined in part by the presence of Lewy bodies and Lewy neurites that are composed primarily of alpha-synuclein deposited in an aggregated amyloid fibril state. The normal function of alpha-synuclein is poorly understood, and the precise mechanisms by which it leads to toxicity and cell death are also unclear. Although alpha-synuclein is a highly soluble, cytoplasmic protein, it binds to a variety of cellular membranes of different properties and compositions. These interactions are considered critical for at least some normal functions of alpha-synuclein, and may well play critical roles in both the aggregation of the protein and its mechanisms of toxicity. Here we review the known features of alpha-synuclein membrane interactions in the context of both the putative functions of the protein and of its pathological roles in disease.
alpha-Synuclein* ; Amyloid ; Cell Death ; Cytoplasm ; Heredity ; Lewy Bodies ; Membranes* ; Neurites ; Neurons ; Parkinson Disease ; Synaptic Transmission

OBJECTIVES: Information on the specificity of associations between parents with bipolar disorder (BPD) and risk of psychopathology in their offspring is limited. The aim of this study was to examine the prevalence of mental disorders in the offspring of individuals with BPD in South Korea. METHODS: The sample consisted of 100 child and adolescent offspring (aged 6.0-18.9 years) from 65 nuclear families having at least one parent with BPD. Probands, offspring, and biological co-parents were interviewed using a semi-structured diagnostic interview and the offspring were evaluated using the Korean version of the Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL). RESULTS: Sixty one of the 100 participants met the criteria for at least one mental disorder. Of these, 35 participants had a mood disorder, 35 had an anxiety disorder, and 29 had attention-deficit hyperactivity disorder (ADHD). Thirty nine of the offspring had no psychiatric diagnosis. Of the 35 with a mood disorder, 16 (45.7%) had comorbid ADHD and 18 (51.4%) had comorbid anxiety disorders. CONCLUSION: Offspring of parents with BPD are at high risk for mental disorders. These findings further support the heredity of BPD and indicate the need for early identification and treatment.
Adolescent ; Anxiety Disorders ; Bipolar Disorder* ; Child ; Heredity ; Humans ; Korea ; Mental Disorders* ; Mood Disorders ; Nuclear Family ; Parents* ; Prevalence ; Psychopathology ; Sensitivity and Specificity

OBJECTIVES: Information on the specificity of associations between parents with bipolar disorder (BPD) and risk of psychopathology in their offspring is limited. The aim of this study was to examine the prevalence of mental disorders in the offspring of individuals with BPD in South Korea. METHODS: The sample consisted of 100 child and adolescent offspring (aged 6.0-18.9 years) from 65 nuclear families having at least one parent with BPD. Probands, offspring, and biological co-parents were interviewed using a semi-structured diagnostic interview and the offspring were evaluated using the Korean version of the Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL). RESULTS: Sixty one of the 100 participants met the criteria for at least one mental disorder. Of these, 35 participants had a mood disorder, 35 had an anxiety disorder, and 29 had attention-deficit hyperactivity disorder (ADHD). Thirty nine of the offspring had no psychiatric diagnosis. Of the 35 with a mood disorder, 16 (45.7%) had comorbid ADHD and 18 (51.4%) had comorbid anxiety disorders. CONCLUSION: Offspring of parents with BPD are at high risk for mental disorders. These findings further support the heredity of BPD and indicate the need for early identification and treatment.
Adolescent ; Anxiety Disorders ; Bipolar Disorder* ; Child ; Heredity ; Humans ; Korea ; Mental Disorders* ; Mood Disorders ; Nuclear Family ; Parents* ; Prevalence ; Psychopathology ; Sensitivity and Specificity

Irritable bowel syndrome (IBS) and migraine are distinct clinical disorders. Apart from the characteristics of chronic and recurrent pain in nature, these pain-related disorders apparently share many similarities. For example, IBS is female predominant with community prevalence about 5-10%, whereas that of migraine is 1-3% also showing female predominance. They are often associated with many somatic and psychiatric comorbidities in terms of fibromyaglia, chronic fatigue syndrome, interstitial cystitis, insomnia and depression etc., even the IBS subjects may have coexisted migraine with an estimated odds ratio of 2.66. They similarly reduce the quality of life of victims leading to the social, medical and economic burdens. Their pathogeneses have been somewhat addressed in relation to biopsychosocial dysfunction, heredity, genetic polymorphism, central/visceral hypersensitivity, somatic/cutaneous allodynia, neurolimbic pain network, gonadal hormones and abuses etc. Both disorders are diagnosed according to the symptomatically based criteria. Multidisciplinary managements such as receptor target new drugs, melantonin, antispasmodics, and psychological drugs and measures, complementary and alternatives etc. are recommended to treat them although the used agents may not be necessarily the same. Finally, the prognosis of IBS is pretty good, whereas that of migraine is less fair since suicide attempt and stroke are at risk. In conclusion, both distinct chronic pain disorders to share many similarities among various aspects probably suggest that they may locate within the same spectrum of a pain-centered disorder such as central sensitization syndromes. The true pathogenesis to involve these disorders remains to be clarified in the future.
Central Nervous System Sensitization ; Chronic Pain ; Comorbidity ; Cystitis, Interstitial ; Depression ; Fatigue Syndrome, Chronic ; Female ; Gonadal Hormones ; Heredity ; Humans ; Hyperalgesia ; Hypersensitivity ; Irritable Bowel Syndrome ; Migraine Disorders ; Odds Ratio ; Parasympatholytics ; Polymorphism, Genetic ; Prevalence ; Prognosis ; Quality of Life ; Sleep Initiation and Maintenance Disorders ; Stroke ; Suicide

Polyglandular autoimmune syndrome is defined as multiple endocrine gland insufficiencies accompanied by autoimmune diseases of the endocrine and nonendocrine system. After Schmidt introduced a case of nontuberculosis adrenal gland dysfunction with thyroiditis in 1926, Neufeld defined polyglandular autoimmune syndrome by I, II, and III subtypes in 1980 by their presentation of occurrence age, heredity methods, relationship with human leukocyte antigen, and accompanying diseases. We report a case of a 32-year-old female with polyglandular autoimmune syndrome III accompanied by type 1 diabetes mellitus that was treated with insulin (36 units per day) for 11 years. She had insulin deficiency and Hashimoto thyroiditis as an autoimmune disorder. In addition, she had several features similar to Albright's hereditary osteodystrophy including short stature, truncal obesity, round face, short neck, low intelligence (full IQ 84), and decreased memory. Although Albright's hereditary osteodystrophy is morphological evidence of pseudohypoparathyroidism or pseudopseudohypoparathyroidism, she had primary hypoparathyroidism on laboratory results. Here, we report a case of polyglandular autoimmune syndrome III with type 1 diabetes mellitus, autoimmune thyroiditis, and primary hypoparathyroidism, accompanied by clinical features similar to Albright's hereditary osteodystrophy.
Adrenal Glands ; Adult ; Autoimmune Diseases ; Diabetes Mellitus, Type 1 ; Endocrine Glands ; Female ; Fibrous Dysplasia, Polyostotic ; Hashimoto Disease ; Heredity ; Humans ; Hypoparathyroidism ; Insulin ; Intelligence ; Leukocytes ; Memory ; Neck ; Obesity ; Pseudohypoparathyroidism ; Pseudopseudohypoparathyroidism ; Thyroid Gland ; Thyroiditis ; Thyroiditis, Autoimmune

BACKGROUND/AIMS: Family history (FHx) of coronary heart disease (CHD) is a well-known risk factor for CHD. However, the prognostic implication of FHx has not been established clearly in patients with acute myocardial infarction (AMI). METHODS: In total, 11,612 patients (8,132 males [70%], age 63 +/- 13 years) with first-onset AMI between November 2005 and June 2008 in a nationwide, prospective, multicenter, online registry (the Korea AMI Registry) were analyzed. Clinical characteristics and outcomes (cardiac death and major adverse cardiac events [MACEs]) were assessed according to the presence of FHx. RESULTS: The patients with FHx were younger and included more males. Male patients with FHx included more current smokers and individuals with poor lipid profiles. In all patients, after adjustment using the Cox proportional hazard model, FHx was related to the risk of MACEs (hazard ratio [HR], 1.41; p = 0.009) and cardiac death (HR, 1.56; p = 0.080). The poor prognostic implication of FHx was further augmented in females and a low risk subset of patients. A significant interaction was only found between male and female patients for composite MACEs (p for interaction = 0.057), and between patients with more risk factors (> or = 2 risk factors) and fewer risk factors for cardiac deaths (p for interaction = 0.008). CONCLUSIONS: FHx may be an independent prognostic predictor, especially in female patients and patients with low-risk profile.
Adult ; Aged ; Chi-Square Distribution ; Coronary Artery Bypass ; Coronary Disease/*genetics/mortality/therapy ; Female ; Genetic Predisposition to Disease ; Heredity ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Myocardial Infarction/*genetics/mortality/therapy ; Pedigree ; Percutaneous Coronary Intervention ; Prognosis ; Proportional Hazards Models ; Registries ; Republic of Korea/epidemiology ; Retrospective Studies ; Risk Factors ; Sex Factors ; Time Factors