• Title/Summary/Keyword: Most Frequent Disease

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Sudden Infant Death Syndrome and Inborn Metabolic Disorders (유아돌연사증후군과 유전성대사질환)

  • Yoon, Hye-Ran
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.13 no.2
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    • pp.75-80
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    • 2013
  • Specific genetic conditions may lead to sudden unexpected deaths in infancy, such as inborn errors of fatty acid oxidation and genetic disorders of cardiac ion channels. The disease may present dramatically with severe hypoketotic hypoglycemia, Reye syndrome or sudden death, typically with a peak of frequency around 3-6 month, whilst neonatal sudden death is quite rare. When undetected, approximately 20-25% of infants will die or suffer permanent neurologic impairment as a consequence of the first acute metabolic decompensation. Meanwhile, the advent of newborn screening for metabolic diseases has revealed populations of patients with disorders of fatty acid oxidation (FAO), the most frequent of which is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Without this screening, affected individuals would likely succumb to sudden infant death syndrome (SIDS). Here we describe an overview of sudden infant death syndrome and inherited metabolic disorder.

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LRRK2 and membrane trafficking: nexus of Parkinson's disease

  • Hur, Eun-Mi;Jang, Eun-Hae;Jeong, Ga Ram;Lee, Byoung Dae
    • BMB Reports
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    • v.52 no.9
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    • pp.533-539
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    • 2019
  • Recent evidence from genetics, animal model systems and biochemical studies suggests that defects in membrane trafficking play an important part in the pathophysiology of Parkinson's disease (PD). Mutations in leucine-rich repeat kinase 2 (LRRK2) constitute the most frequent genetic cause of both familial and sporadic PD, and LRRK2 has been suggested as a druggable target for PD. Although the precise physiological function of LRRK2 remains largely unknown, mounting evidence suggests that LRRK2 controls membrane trafficking by interacting with key regulators of the endosomal-lysosomal pathway and synaptic recycling. In this review, we discuss the genetic, biochemical and functional links between LRRK2 and membrane trafficking. Understanding the mechanism by which LRRK2 influences such processes may contribute to the development of disease-modifying therapies for PD.

Clinical and Bacteriological Evaluation of the Patients with Anaerobic Bacteria Isolation from Blood (혈액에서 혐기성 세균이 분리된 환자의 임상 및 세균학적 검토)

  • Kim, Jin-Ju;Chong, Yun-Sop;Lee, Samuel Y.
    • The Journal of the Korean Society for Microbiology
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    • v.20 no.1
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    • pp.35-44
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    • 1985
  • Isolation and identification of anaerobic bacteria from blood cultures are still technically demanding procedures. Recently, with the use of gas liquid chromatography, the accuracy of identification is much improved. However, there has never been a satisfactory data analysis on anaerobic bacteremia in Korea. The authors evaluated both the clinical and the bacteriological data of 129 anaerobic bacteremias found at the Yonsei Medical Center during the period of 1973 to 1984. The most frequently isolated anaerobic bacteria were Bacteroides (52.7%), among which the major species was B. fragilis (38.7%). Incidence of anaerobic bacteremia by sex was 57% in male and 43% in female. Mortality was higg in groups below 1-year old and above 50-year old. The cause of death seemed closely correlated with the patient's age, general condition and the severity of the underlying disease. Various neoplasms were the most common (20%) underlying diseases predisposing the anaerobic bacteremia. Biliary tract was considered the most frequent route of infection in anaerobic bacteremia. The frequent clinical signs in anaerobic bacteremia were fever (65%), followed by liver function abnormality (29%), jaundice (20%) and hypotention(18%). When analysis of positive rate of blood culture was made on the patients from whom 4 cultures were done within 24 hours, it was found that 33% of the samples were positive. Isolation rate of anaerobic bacteria in thioglycollate medium was 83.8%, while it was 44% in Tryptic soy broth. Among the anaerobic bacteremia, 25.4% were polymicrobial infections with aerobic bacteria (92.5%), such as E. coli(33.3%). From these studies, it is concluded that B. fragilis is the most important causative organism in anaerobic bacteremia, with high fatality, particularly in those who have underlying diseases. The ports of entry are mainly biliary, gastrointestinal and female genital tract. Fever is the most frequent clinical sign. Single blood culture is not sufficient to detect all anaerobic bacteremia, therefore more cultures with optimal time interval are needed. The incidence of polymicrobial infection in anaerobic bacteremia is higher than that in overall bacteremia.

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A Clinical Review of the Patients in the Kim Chan Pain Clinic (김 찬 신경통증클리닉 환자의 통계고찰)

  • Han, Kyung-Ream;Park, Won-Bong;Kim, Wook-Seoung;Lee, Jae-Cheul;Lee, Kyung-Jin;Kim, Chan
    • The Korean Journal of Pain
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    • v.11 no.1
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    • pp.101-104
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    • 1998
  • Backgrouds: Twent five years have passed since the opening of the first pain clinic in korea, in 1973 at Yonsei University Hospital. The number of pain clinics are gradually increasing in recent times. It is important to plan for future pain clinics with emphasis on improving the quality of pain management. Therefore we reviewed the patients in our hospital to help us in planning for the future of our pain clinic. Methods: We analyzed 2656 patients who had visited our Kim Chan Pain Clinic, accordance to age, sex, disease, and type of treatment block, from July 1996 to August 1997. Results: The prevalent age group was in the fifties, 27.3%, seventy years and older compromised 9.2%. The most common disease were as follows: lower back pain(46.2%); cervical and upper extremities pain(23.1%); trigeminal neuralgia(7.2%); and hyperhydrosis(5.8%) Both nerve blocks and medication were prescribed as treatment. Lumbar epidural block(16.3%) and stellate ganglion block(15.6%) were the most frequent blocks performed among various nerve blocks. Among nerve block under C-arm guidance, lumbar facet joint block(24.4%) and lumbar root block(22.5%) were performed most frequently. Trigeminal nerve block(18.4%), thoracic(17.0%) and lumbar sympathetic ganglion block(11.4%) were next most prevalent blocks performed frequent block. Conclusions: Treatments at our hospital were focused on nerve blocks and medications prescriptions. Nerve blocks are of particular importance in the diagnosis and treatment of chronic pain. However in future, to raise the quality of pain management, we need to fucus on a multidisciplinary/interdisciplinary team approach.

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Surgical Evaluation of Hemoptysis Patients (객혈환자의 흉부외과적 고찰)

  • Lee, Hyeong-Ryeol;Jeong, Hwang-Gyu
    • Journal of Chest Surgery
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    • v.20 no.1
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    • pp.128-138
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    • 1987
  • The Hippocratic aphorism, "the spitting of pur follows the spitting of blood, consumption follows the spitting of this, and death follows consumption," gives ancient documentation to the significance of hemoptysis in the intrathoracic disease. Hemoptysis is still one of the most alarming and startling of all symptoms. For most patients and not a few doctors, the expectoration of blood signals either pulmonary tuberculosis or cancer. But with the advent of modern thoracic surgical methods, differential diagnosis has become doubly important and appropriate treatment has provided the patients with full recovery or improvement of hemoptysis. Author reviewed 72 cases of patients with a chief complaint of hemoptysis, who were performed open thoracotomies in the Dept. of Thoracic and Cardiovascular Surgery, Pusan National University Hospital for 5 years from April 1980 to March 1985. The results were as follows: 1. The mean age of hemoptysis patients was 35.1 year old with a range from 16 to 64, and hemoptysis was most prevalent in the twenties and male dominant. 2. The most common underlying lung disease of hemoptysis was bronchiectasis [37.5%]. 3. The monthly peak frequency of hemoptysis was in the February [25.[%]. 4. Left lower lobe was the most common site of developing hemoptysis. 5. Lobectomy was the most frequent operative method of all open thoracotomies. 6. The hemoptysis caused by lung cancer recurred most frequently [21.4%], and the prognosis of operation was desperate. 7. The common postoperative complications of hemoptysis patient were re-hemoptysis [24%], bleeding [20%], and atelectasis [16%], and immediate postoperative mortality rate was 2.8%. was 2.8%.

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Epidemiological and Clinical Features of Canine Ophthalmic Diseases in Seoul from 2009 to 2013 (서울에서의 개의 안과질환에 대한 역학적 특징과 임상적인 특징에 대한 연구(2009년에서 2013년))

  • Kim, Joon-Young;Kim, Kyung-hee;Williams, David L.;Lee, Won-chang;Jeong, Soon-wuk
    • Journal of Veterinary Clinics
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    • v.32 no.3
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    • pp.235-238
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    • 2015
  • This study aimed to investigate the epidemiology of canine ophthalmic diseases in Seoul, Korea using data for new canine patients examined from January 2009 through December 2013 at an ophthalmic referral center (WooSung Animal Medical Center, Seoul). The study included 1253 dogs with an average age of 7.93 years (SD, 4.06). Shih Tzu (29.4%) was the most common breed, followed by Maltese, Yorkshire Terrier, Cocker Spaniel, and toy Poodle (P < 0.01). Lens diseases (28.3%) were the most common, followed by eyelid, corneal, retinal, and glaucomatous diseases (P < 0.01). Lens, eyelid, retinal, nasolacrimal, uveal, vitreous, and neuro-ophthalmic diseases more frequently showed a bilateral occurrence (P < 0.01) than a unilateral occurrence. In the Shih Tzu breed, corneal disease was the most frequent, followed by lens, eyelid, retinal, and glaucomatous diseases. The most frequent diseases in the Maltese breed were lens, eyelid, retinal, and corneal diseases. In the Yorkshire Terrier, Cocker Spaniel, and toy Poodle breeds, lens disease was the most common (P < 0.01). The most frequent ophthalmic patients belonged to small breeds such as Shih Tzu, Maltese, and Yorkshire Terrier. Moreover, the most common ophthalmic diseases were not traumatic diseases, but breed-inherited diseases such as lens diseases.

Reactive Hyperplasia of Intraoral Soft Tissue by Mechanical Irritation (기계적 자극에 의한 구강내 반응성 증식)

  • Kim, Ji-Hyun;Park, June-Sang;Ko, Myung-Yun
    • Journal of Oral Medicine and Pain
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    • v.26 no.2
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    • pp.115-120
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    • 2001
  • Intraoral soft tissue can easily be injured by weak mechanical irritation. Each symptom by irritation is various, but most of patients show chronic inflammatory lesion. The fibroma is the most frequent disease found in intraoral area followed by pyogenic granuloma, epulis fissuratum, palatal papillomatosis, and epulis granulomatosum. The inflammatory hyperplasia by mechnical irritation is easily different from other disease, but this shows similar to several benign and malignant tumors required differential diagnosis. By microscopic feature, the lesions is divided by granulatory stage, mixed stage, and fibrotic tissue stage. The inflammatory hyperplasia is differently treated by each clinical features.: only removal of cause or, and excisional biopsy is/are required. This is the cases report of reactive hyperplasia of intraoral soft tissue by mechanical irritation that suggests various treatments of each cases.

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Local Complication after Surgical Resection for Thyroid Disease (갑상선 질환의 외과적 절제술에 대한 국소적 합병증)

  • Cho Hyun-Jin;Cho Tae-Hyung
    • Korean Journal of Head & Neck Oncology
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    • v.11 no.1
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    • pp.9-17
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    • 1995
  • This study was retrospectively reviewed and analysis of postoperative local complication on all patient undergoing thyroid operation of 242 cases of thyroid disease, at Department of General Surgery, Chosun University Hospital from January 1988 to December 1992. The result were follow: Postoperative local complication are as follow; 52 cases of transient hypocalcemia, 7 cases of thansient hoarseness, 3 cases of permanent hypocalcemia, 2 cases of permanent hoarseness, and other local complication were postoperative bleeding with airway obstraction, hematoma, infection. In pathologic classification according to complicative patients; The most common frequency of complication in benign disease was Graves' disease with 13 cases(54.2%), and the most frequency of complication in malignance disease was follicalar adenocarcinoma with 7 cases(53.9%). The frequency of complication according to operation procedure were unilateral lobectomy in 31 cases(19.9%), subtotal thyroidectomy in 15 cases(39.5%), near total thyroidectomy in 12 cases (44.4%), and total thyroidectomy in 10 cases(55.6%). There was a significant relationship between extent of operative procedure and frequency of complication. The incidence of local complication after thyroid resection was 57 of 196(29.1%) in the benign disease that was 15 of 26(57.7 %) in the intrathyroidal carcinoma and 13 of 20(65.0%) in the extrathyroidal carcinoma. There was significant different in frequency of local complication according to invasion and malignance of pathologic lesion. The most frequent complication after thyroid resection is transient hypocalcemia ; 39 of 196(19.9%) in the benign disease, 7 of 26(26.9%) in the intrathyroida1 carcinoma, and 6 of 10(30.0%) in the extrathyroidal carcinoma. Their complication rate increased in direct relationship to the invasion and malignance of pathologic lesion, but there was no statistically significant. Transient hypocalcemia was encountered in 52 cases of the total 242 patient(21.9%) ; 29 of 156(18.6%) after unilateral lobectomy, 9 of 38(23.7%) after subtotal thyroidectomy, and 5 of 18(27.8 %) after total thyroidectomy. The relation ship between temporal hypocalcemia and the extent of surgery was not statistically significant.

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Clinical Presentation and Frequency of Risk Factors in Patients with Breast Carcinoma in Pakistan

  • Memon, Zahid Ali;Qurrat-ul-Ain, Qurrat-ul-Ain;Khan, Ruba;Raza, Natasha;Noor, Tooba
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.17
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    • pp.7467-7472
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    • 2015
  • Background: Breast cancer is known to be one of the most prevalent cancers among women in both developing and developed countries. The incidence of breast cancer in Pakistan has increased dramatically within the last few years and is the second country after Israel in Asia to have highest proportional cases of breast cancer. However, there are limited data for breast cancer available in the literature from Pakistan. Objectives: The study was conducted to bring to light the common clinical presentation of breast cancer and to evaluate the frequency of established risk factors in breast carcinoma patients and furthermore to compare the findings between premenopausal and postmenopausal women in Pakistan. Materials and Methods: A 6 months (from July 2012 to Dec 2012) cross sectional survey was conducted in Surgical and Oncology Units of Civil Hospital, Karachi. Data were collected though a well developed questionnaire from 105 female patients diagnosed with carcinoma of breast and analyzed using SPSS version 17. Institutional ethical approval was obtained prior to data collection. Results: Out of 105 patients, 43 were premenopausal and 62 were postmenopausal, 99 being married. Mean age at diagnosis was $47.8{\pm}12.4years$. A painless lump was the most frequent symptom, notived by 77.1%(n=81). Some 55.2% (n=58) patients had a lump in the right breast and 44.8%(n=47) in the left breast. In the majority of cases, the lump was present in upper outer quadrant 41.9% (n=44). Mean period of delay from appearance of symptoms to consulting a doctor was $5.13{\pm}4.8months$, from the shortest 1 month to the longest 36 months. Long delay (> 3 months) was the most frequent figure 41.9%. Considering overall risk factors most frequent were first pregnancy after 20 years of age (41%), physical breast trauma (28.6%), lack of breast feeding(21.9%), and early menarche <11 years (19%), followed by null parity (16.2%), consumption of high fat diet (15.2%), family history of breast cancer or any other cancer in first degree relatives (9.5% and 13.3%, respectively). Some of the less common factors were late menopause >54 years (8.6%), use of oral contraceptive pills (10.5%), use of hormone replacement therapy (4.7%),smoking (4.7%) and radiation (0.96%). Significant differences (p<0.005) were observed between pre and post menopausal women regarding history of physical breast trauma, practice of breast feeding and parity. Conclusions: A painless lump was the most frequent clinical presentation noted. Overall age at first child > 20 years, physical breast trauma, lack of breast feeding, early menarche <11 were the most frequent risk factors. Physical breast trauma, lower parity, a trend for less breast feeding had more significant associations with pre-menopausal than post-menopausal onset. Increase opportunity of disease prevention can be obtained through better understanding of clinical presentation and risk factors important in the etiology of breast cancer.

A Study on the Chief Complaints among Farmers in the Rural Community (농촌주민의 주소증에 대한 조사연구)

  • Kim Lak-Hyung;Kim Gil-Jung;An Chol-Ho
    • Journal of Society of Preventive Korean Medicine
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    • v.4 no.2
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    • pp.142-151
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    • 2000
  • Objectives and Methods : This study was conducted to investigate chief complaints among famers. The subjects of this study were 640 famers who live in the rural area in Wanju-gun Jeonbuk province. They were received medical treatment by oriental doctors who visited each village from July 1996 to June 1999. The data of this study were collected from their medical charts . Results and Conclusions : The number of female patients was 449(70.16%) and the number of male patients was 191(29.84%). The group of patients above 70 years was 32.81%, 60-69 years 32.03%, 50-59 years 20.15%, 40-49 years 8.90%, and bellow 39 years 6.09%. The most frequent complaint in farmers was low back pain(27.16%) the second was knee joint pain(16.14%), the third was shoulder Pain(12.06%), and the fourth was headache-dizziness(9.59%). The frequency of musculoskeletal disease(64.48%) was most high, and cardiovascular disease(11.33%) was the second, gstrointestinal disease(10.73%) was the third, respiratory disease(3.42%) was the fourth. It is necessary to pay attention to musculoskeletal disease-especially low back pain and knee joint pain- in study and treatment of farmer's disease.

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