• Title/Summary/Keyword: Early-onset

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Mieko Han and her Works on Korean Phonetics (Mieko Han의 한국어 음성학 연구)

  • Ko, Do-Heung
    • Speech Sciences
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    • v.1
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    • pp.213-223
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    • 1997
  • This paper deals with a general review of Mieko S. Han, who made a significant contribution to the studies of Korean phonetics during the 1960' s and early 1970' s. As both a single and joint author, Dr. Han published important papers in both quantity and quality, which have been cited among Korean phoneticians until today. Before Dr. M. Han' s work, professor of USC in the department of East Asian Languages & Cultures, there were only a few phonetics-related publications in Korea, most of which are papers or books based on non-experimental traditional approach. It is known that there was coexistence between traditionalism and structuralism in the field of Korean linguistics. It was, however, fortunate that we had two important phoneticians (M. Han and Chin-W Kim) abroad at that time. Mieko Han' s concern was to investigate experimental characteristics of the system of Korean vowels and consonants using a Spectrograph, which was the single most important tool for analysing phonetic data at that time. Dr. Han conducted her experimental studies on Korean phonetics, mostly funded by the Office of Naval Research, in terms of duration, fundamental frequency, Voice Onset Time (VOT), intensity, and so on. This paper aims to re-appreciate Dr. Han's specific contribution to the study of Korean phonetics since she played an important role as a pioneer of early Korean phonetics. Further, it is highly recommended that Dr. Han's works can be extremely useful for a graduate student, who seriously would like to specialize in Korean phonetics in the first step.

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Maternal Social Separation of Adolescent Rats Induces Hyperactivity and Anxiolytic Behavior

  • Kwak, Hyong-Ryol;Lee, Jae-Won;Kwon, Kwang-Jun;Kang, Chang-Don;Cheong, Il-Young;Chun, Wan-Joo;Kim, Sung-Soo;Lee, Hee-Jae
    • The Korean Journal of Physiology and Pharmacology
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    • v.13 no.2
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    • pp.79-83
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    • 2009
  • Exposure to early stressful adverse life events such as maternal and social separation plays an essential role in the development of the nervous system. Adolescent Sprague-Dawley rats that were separated on postnatal day 14 from their dam and litters (maternal social separation, MSS) showed hyperactivity and anxiolytic behavior in the open field test, elevated plus-maze test, and forced-swim test. Biologically, the number of astrocytes was significantly increased in the prefrontal cortex of MSS adolescent rats. The hyperactive and anxiolytic phenotype and biological alteration produced by this MSS protocol may provide a useful animal model for investigating the neurobiology of psychiatric disorders of childhood-onset diseases, such as attention deficient hyperactive disorder.

Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

  • Jang, Min Jeong;Lee, Cha Gon;Kim, Hyun Jung
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.110-114
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    • 2018
  • Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report

  • Song, Wung Joo;Lee, Yoon Jin;Kang, Joon Won;Chang, Mea Young;Song, Kyu Sang;Kang, Dae Young;Kim, Sook Za
    • Journal of Genetic Medicine
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    • v.16 no.1
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    • pp.31-38
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    • 2019
  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder of which m.3243A>G is the most commonly associated mutation, resulting in an inability to meet the energy requirements of various organs. MELAS poses a diagnostic challenge owing to its multiple organ involvement and great clinical variability due to its heteroplasmic nature. We report three cases from a family who were initially misdiagnosed with myasthenia gravis or undiagnosed. Although there is no optimal consensus treatment approach for patients with MELAS because of the disease's heterogeneity, our 21-year-long therapy regimen of ${\text\tiny{L}}-arginine$, ${\text\tiny{L}}-carnitine$, and coenzyme Q10 supplementation combined with dietary management appeared to provide noticeable protection from the symptoms and complications. Prompt early diagnosis is important, as optimal multidisciplinary management and early intervention may improve outcomes.

Three-dimensional cone-beam computed tomographic sialography in the diagnosis and management of primary Sjögren syndrome: Report of 3 cases

  • Thomas, Nithin;Kaur, Aninditya;Reddy, Sujatha S.;Nagaraju, Rakesh;Nagi, Ravleen;Shankar, Vidya Gurram
    • Imaging Science in Dentistry
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    • v.51 no.2
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    • pp.209-216
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    • 2021
  • Sjögren syndrome is a chronic autoimmune inflammatory disease characterized by lymphocytic infiltration of exocrine glands, predominantly the parotid and lacrimal glands, thereby resulting in oral and ocular dryness. It has been reported to occur most frequently in women between 40 and 50 years of age. Sjögren syndrome has an insidious onset, is slowly progressive, and presents a wide range of clinical manifestations, leading to delays or challenges in the diagnosis. Early diagnosis of this condition is essential to prevent the associated complications that affect patients' quality of life. This report presents 3 cases of Sjögren syndrome in female patients aged between 40 and 75 years who presented with complaints of persistent dry mouth and burning sensation. The cases highlight the diagnostic value of 3-dimensional cone-beam computed tomographic sialography in the detection of salivary gland pathologies at an early stage.

Unilateral hypoglossal nerve palsy after mild COVID-19: a case report

  • Sang Jae Lee;Si-Youn Song;Hyung Gyun Na;Chang Hoon Bae;Yong-Dae Kim;Yoon Seok Choi
    • Journal of Medicine and Life Science
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    • v.20 no.2
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    • pp.103-106
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    • 2023
  • Post-acute coronavirus disease (COVID-19) syndrome is defined as persistent symptoms or delayed complications after COVID-19. Several cases of cranial nerve invasion related to COVID-19 have been reported. However, to our knowledge, no cases of solitary unilateral hypoglossal nerve paralysis after mild COVID-19 without intubation have been reported to date. Herein, we report the case of a 64-year-old man with unilateral hypoglossal nerve palsy as a complication of COVID-19. He complained of dysarthria and tongue discomfort 2 weeks after COVID-19 onset. Brain and neck computed tomography, magnetic resonance imaging, ultrasonography, and blood tests ruled out other possible causes. The patient's nerve palsy was rapidly diagnosed and improved with early rehabilitation. Understanding of the pathology of COVID-19 is still limited. Physicians should focus on patients' symptoms and their relationship to COVID-19, and investigate complications immediately. This case highlights the importance of early detection and rehabilitation of post-acute COVID-19 syndrome.

Prediction Model for Gastric Cancer via Class Balancing Techniques

  • Danish, Jamil ;Sellappan, Palaniappan;Sanjoy Kumar, Debnath;Muhammad, Naseem;Susama, Bagchi ;Asiah, Lokman
    • International Journal of Computer Science & Network Security
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    • v.23 no.1
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    • pp.53-63
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    • 2023
  • Many researchers are trying hard to minimize the incidence of cancers, mainly Gastric Cancer (GC). For GC, the five-year survival rate is generally 5-25%, but for Early Gastric Cancer (EGC), it is almost 90%. Predicting the onset of stomach cancer based on risk factors will allow for an early diagnosis and more effective treatment. Although there are several models for predicting stomach cancer, most of these models are based on unbalanced datasets, which favours the majority class. However, it is imperative to correctly identify cancer patients who are in the minority class. This research aims to apply three class-balancing approaches to the NHS dataset before developing supervised learning strategies: Oversampling (Synthetic Minority Oversampling Technique or SMOTE), Undersampling (SpreadSubsample), and Hybrid System (SMOTE + SpreadSubsample). This study uses Naive Bayes, Bayesian Network, Random Forest, and Decision Tree (C4.5) methods. We measured these classifiers' efficacy using their Receiver Operating Characteristics (ROC) curves, sensitivity, and specificity. The validation data was used to test several ways of balancing the classifiers. The final prediction model was built on the one that did the best overall.

Early Detection Assistance System for Rare Diseases based on Patient's Symptom Information (환자 증상정보 기반 희귀질환 조기 발견 보조시스템)

  • Jae-Min Choi;Sun-Yong Kim
    • The Journal of the Korea institute of electronic communication sciences
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    • v.18 no.2
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    • pp.373-378
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    • 2023
  • Untypical symptoms and lack of diagnostic records make it difficult for even medical specialists to detect rare diseases. Thus, it takes a lot of time and money from the onset of symptoms to an accurate diagnosis, which seriously results in physical, mental, and economic pressure on patients. In this paper, we propose and implement an early detection assistance system for rare diseases using web crawling and text mining, which can suggest the names of suspected rare diseases so that medical staffs can easily recall the disease names and make a final diagnosis of the rare diseases.

Parental Behavior Influence on the Onset and Severity of Anorexia Nervosa and Bulimia Nervosa (부모의 양육태도가 섭식장애의 발병과 심각도에 미치는 영향)

  • Lee, Jung Eun;Lee, Jung-Hyun;Jung, Young-Chul;Park, Jun Young;Kee, Namkoong;Park, Dong Wha;Kim, Kyung Ran
    • Korean Journal of Psychosomatic Medicine
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    • v.23 no.1
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    • pp.3-11
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    • 2015
  • Objectives:To determine the influence of parental behaviors on the onset and severity of eating disorders, this study compared aspects of perceived parental styles, according to eating disorder subtypes and age at onset in Korean women with eating disorders. Methods:One hundred and sixty-seven patients with eating disorders[Anorexia Nervosa (AN), N=49; Bulimia Nervosa(BN), N=118] were recruited for this study. Perceived parent behaviors were assessed with Parental Behavior Inventory(PBI) self-rating scale. The study subjects also completed the Eating Disorder Inventory -2 (EDI-2) to assess the severity of eating disorder symptoms. Results:In anorexia nervosa, early onset group(<16 years) reported low paternal affection and high paternal rational expression, low maternal interference than group with age at onset over 16 years. The severity of eating disorder symptoms was negatively associated with mother affection and rational expression in two subtypes of eating disorder(AN and BN). On stepwise regression analysis, paternal affection and maternal over-protection were associated with age of onset only in AN group and maternal affection was associated with the severity of symptoms in both groups of eating disorder. Conclusions:Considering the role of family function and perceived parental styles could help improve the management of eating disorders. These results emphasize the importance of fathers' role in the eating disorder on the age of onset, a relatively unexplored area of eating disorder research. Also, we investigated the importance of mothers' affection on the severity of symptoms.

Comparison of Plasma Progesterone Concentrations between Spontaneous Delivery Bitches and Fetal Death Bitches (정상 분만견과 태아사 발생견에서의 혈장 Progesterone 농도 비교)

  • Rae, Jae-Han;Park, Chul-Ho;Kim, Sang-Il;Ryu, Jae-Sun;Suh, Guk-Hyun;Park, In-Chul;Kim, Jong-Taek;Oh, Ki-Seok;Son, Chang-Ho
    • Journal of Embryo Transfer
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    • v.26 no.1
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    • pp.45-51
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    • 2011
  • This study investigated potential relationship between fetal deaths and plasma progesterone concentrations of bitches. Serial ultrasonographic examinations were performed on small-pet 23 dogs from gestation day (GD) 15 through parturition. The dogs were 3 non-pregnant bitches, 9 spontaneous delivery bitches, 6 partial early embryonic death bitches, 2 whole early embryonic death bitches, and 3 aborted bitches. The late pregnancy (GD 51-54) appeared in 2 of the 3 aborted bitches and the hypoluteoidism appeared in 1 of the 3 aborted bitches. The plasma progesterone concentrations of partial early embryonic death bitches (n=6) showed no significant difference when compared with the spontaneous delivery bitches. We observed that plasma progesterone concentrations were dramatic decrease before the onset of embryonic death in whole early embryonic death bitches that plasma progesterone concentrations of aborted bitches at late pregnancy were significantly decreased when compared with those of spontaneous delivery bitches. The plasma progesterone concentrations of the hypoluteoidism bitch were lower than those of spontaneous delivery bitches. At the hypoluteoidism bitch, fetuses were resorbed in early pregnancy and aborted in late pregnancy. On the basis of the results, the diagnosis of partial early embryonic death could not be confirmed without ultrasonographic examination. The partial early embryonic death was considered a spontaneous phenomenon and uncorrelated with plasma progesterone concentration. However, aborted bitches and whole early embryonic death bitches were related to plasma progesterone concentrations and that of bitches gradually decreased before fetal death. These findings suggest that administration of progesterone may be a useful preventing agent against fetal death.