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

Among cause of carcinogenesis, heredity is believed to take about 10 percent in ovarian cancer. BRCA1 or BRCA2 account for largest portion of Hereditary Breast and Ovary Cancer (HBOC). Frequency of BRCA1/2 germ line mutations varies according to region and ethnicity from 1.1-39.7 percent. The identification of ovarian cancers with a BRCA mutation is will be more and important due to the possibility to offer a genetic counseling and also due to potential beneficial treatment effects with a poly-ADP-ribose polymerase inhibitor in some individuals. We report the case of a 41 year old woman with a stage Ic mucinous ovarian adenocarcinoma and carrier daughter found on family genetic counseling. We indentified other family members with a history of breast cancer of 1st degree and pancreatic cancer of 2nd degree relative. After a screening with immunohistochemistry, the absence of nuclear expression for BRCA1 and BRCA2 was revealed. The gene sequencing confirmed heterozygous mutations of BRCA2 gene. The daughter of the case subject consented for a test. This test was shown the daughter is positive for BRCA2 mutation. Regular surveillance, chemoprophylaxis with oral contraceptive and prophylactic surgery after childbearing were offered to her.
Adenocarcinoma ; Breast ; Breast Neoplasms ; Carcinogenesis ; Chemoprevention ; Female ; Genes, BRCA2 ; Genetic Counseling* ; Germ Cells ; Germ-Line Mutation* ; Heredity ; Humans ; Immunohistochemistry ; Mass Screening ; Mothers* ; Mucins ; Nuclear Family* ; Ovarian Neoplasms* ; Pancreatic Neoplasms

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and the incidence varies between populations. Although the CF transmembrane conductance regulator gene is expressed in the kidneys, renal involvement is rare. With advances in the treatment of CF, life expectancy has increased, and some previously unobserved disease associations are now seen in patients with CF. It is important to follow patients with CF for possible abnormalities that may accompany CF. In this paper, we present two rare cases of CF accompanied by nephrotic syndrome.
Child ; Cystic Fibrosis* ; Genes, Regulator ; Humans ; Heredity ; Incidence ; Kidney ; Life Expectancy ; Nephrotic Syndrome* ; Pancreas* ; Prevalence

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