• 제목/요약/키워드: metabolic patients

검색결과 863건 처리시간 0.031초

Mucopolysaccharidoses in Taiwan

  • Lin, Hsiang-Yu;Chuang, Chih-Kuang;Lin, Shuan-Pei
    • Journal of mucopolysaccharidosis and rare diseases
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    • 제4권1호
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    • pp.14-20
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    • 2018
  • Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders caused by specific lysosomal enzyme deficiencies leading to the sequential degradation of glycosaminoglycans, causing substrate accumulation in various cells and tissues and progressive multiple organ dysfunction. The rare disease medical care team at Mackay Memorial Hospital in Taiwan has been dedicated to the study of MPSs for more than 20 years. Since 1999, more than 50 academic papers focusing on MPSs have been published in international medical journals. Topics of research include the following items regarding MPSs: incidence, natural history, clinical manifestations, gene mutation characteristics, cardiac function, bone mineral density, sleep studies, pulmonary function tests, hearing assessments, percutaneous endoscopic gastrostomy, anesthetic experience, imaging analysis, special biochemical tests, laboratory diagnostics, global expert consensus conferences, prenatal diagnosis, new drug clinical trials, newborn screening, and treatment outcomes. Of these published academic research papers, more than half were cross-domain, cross-industry, and international studies with results in cooperation with experts from European, American and other Asian countries. A cross-specialty collaboration platform was established based on high-risk population screening criteria with the acronym "BECARE" (Bone and joints, Eyes, Cardiac and central nervous system, Abdomen and appearance, Respiratory system, and Ear, nose, and throat involvement). Through this platform, orthopedic surgeons, rheumatologists, ophthalmologists, cardiologists, rehabilitation physicians, gastroenterologists, otorhinolaryngologists, and medical geneticists have been educated with regards to awareness of suspected cases of MPSs patients to allow for a further confirmative diagnosis of MPSs. Because of the progressive nature of the disease, an early diagnosis and early multidisciplinary therapeutic interventions including surgery, rehabilitation programs, symptom-based treatments, hematopoietic stem cell transplantation, and enzyme replacement therapy, are very important.

Physical Inactivity, Water Intake and Constipation as Risk Factors for Colorectal Cancer among Adults in Jordan

  • Tayyem, Reema Fayez;Shehadeh, Ihab Numan;AbuMweis, Suhad Sameer;Bawadi, Hiba Ahmad;Hammad, Shatha Sabri;Bani-Hani, Kamal Eddin;Al-Jaberi, Tareq Mohammad;Alnusai, Majed Mohammed
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권9호
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    • pp.5207-5212
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    • 2013
  • Background: Physical activity has been found to play a role in cancer prevention. The purpose of this matched case-control study was to investigate the association between physical activity levels, water intake, constipation and colorectal cancer (CRC). Materials and Methods: Two hundred and thirty-two patients diagnosed with CRC (125 male, 107 female) were enrolled in this case-control study. Cases were matched to 271 population controls (137 male, 134 female). Results: Drinking more than 4 cups of water daily decreased the risk of CRC by 33-42%; however, this effect was non-significant. Having constipation was found to be a significant risk factor for developing CRC with an OR=6.284 (95%CI=2.741-14.40). With reference to sedentary behavior, minimum activity (600-3000 Metabolic Equivalents Task (MET)) had 43% protection against CRC and the level of Health Enhancing Physical Activity OR was 0.58 (at 95%CI; 0.37-0.92). A significant negative association was found between CRC and physical activity levels expressed as both METs and MET-hours/week (p for trend=0.017 and 0.03, respectively). Among females, a significant trend of reduction in CRC by 62% was observed with increasing the level of physical activity expressed in MET (p for trend=0.04). Conclusions: The risk of CRC may be reduced by adopting a healthy lifestyle and practicing physically activity regularly, especially among females. Consuming adequate amounts of water and healthy bowel motility could also reduce the risk of CRC.

한 가족 3형제에게서 발견 된 발작성 운동이상증 1례 (A familial case report of paroxysmal kinesigenic dyskinesia in three brothers)

  • 권오대;황성진;이준화;김지언;김경집;서을주
    • Clinical and Experimental Pediatrics
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    • 제50권7호
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    • pp.694-697
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    • 2007
  • 발작성 운동이상증(Paroxysmal kinesigenic dyskinesia, PKD)은 경련성 발작과 구분해야 하는 드문 신경질환으로써 1940년에 Mount와 Reback에 의해 발작성 무도무위증(paroxysmal dystonic choreoathetosis)란 용어로 처음 보고되었으며 1967년 Kertesz에 의해 처음으로 발작성 운동이상증(Dyskinesia)으로 명명 되어졌다. PKD는 아동기에서 성인기 초에 호발하며 가족성 우성 유전으로도 나타날 수 있고 chromosome 16p11.2-q12.1, 16q13-q22.1, 2q32-36과 관계 있다는 보고가 있다. 증상은 대부분 수 초 이내 멈추나 드물게 5분 이상 지속되는 경우도 있다. 증상 발현 전에 감각 이상 등의 전구 증상이 동반되는 경우가 있으며 의식소실은 동반되지 않는다. 치료는 carbamazepne, phenytoin, valproic acid, clonazepam 등의 항경련제를 투여하는데 일부에서는 oxycarbazepine이나 levodopa를 투여하기도 한다. 저자들은 한 가족의 세명의 형제에서 나타난 발작성 이상운동증을 경험하고 항경련제(Oxcarbamazepine or Carbamazepine)를 통한 좋은 치료성적을 거두었기에 보고하는 바이다.

Adiponectin Reference Range설정과 임상적 의의 고찰 (Setting of Adiponectin Reference Range and Clinical Significance of investigation)

  • 김용하;오춘순;이안나
    • 핵의학기술
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    • 제12권1호
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    • pp.82-87
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    • 2008
  • Purpose: The Bio-energy metabolism control hormone by Adipocytokine is composed with Leptin, Adiponectin, resistin, TNF-a, IL-6. Adiponectin become known to participating in Insulin sensitivity exasperation, Fat metabolism accomodation and inducing metabolic disease such as diabetes mellitus, arteriosclerosis, hyperlipemia. When we accomplished the test with purpose of Research, we observed significance with a result of test related to diabetes mellitus with reference setting by way of suggestion. Methods: Result of normal group (n=100) which is committed in the SCL from September 2006 to December 2006 and result of control group (n=50) relationship examination item that is decided diabetes measures themselves against each other. Also, we measured the normal group against the control group for the reference range of adiponectin. Results: Result in normal group (n=100) appeared by Glucose (reference 70~120 mg/dl) Mean and the SD 96.99 (${\pm}24.35$), HbA1c (reference 4.0~6.0%) Mean and the SD 5.64 (${\pm}0.90$), Insulin (reference 2.0~25.0 uIU/ml) Mean and the SD 7.80 (${\pm}4.42$), the Adiponectin the Mean and the SD 9,861.23 (${\pm}4,977.0$). Result in control group(n=50) appeared by Glucose (reference 70-120 mg/dl) Mean and the SD 224.95 (5.30), the HbA1c (reference 4.0~6.0%) Mean and the SD 8.22 (1.63), Insulin (reference 2.0~25.0 uIU/ml) Mean and the SD 17.02 (3.01), C-peptide (reference 0.48~3.30 ng/ml) Mean and the SD 7.92 (${\pm}7.40$), the Adiponectin Mean and the SD 18,110.03 (${\pm}12,843.29$). Conclusions: Therefore, it seems that test results are significant and we consider that it can be apply to useful diagnosis of diabetes mellitus, arteriosclerosis, hyperlipemia patients throughout the reference range setting of Adiponectin, Leptin is one of the Bio-energy metabolism control hormone.

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Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis

  • Choi, Shin Jie;Choi, Jong Sub;Chun, Peter;Yoo, Jung Kyung;Moon, Jin Soo;Ko, Jae Sung;Kim, Woo Sun;Kang, Gyeong Hoon;Yi, Nam-Joon
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제19권2호
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    • pp.147-151
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    • 2016
  • Neonatal hemochromatosis (NH) is a severe neonatal liver injury that is confirmed by extra-hepatic iron accumulation. Although a recent study described treating NH with exchange transfusions and intravenous immunoglobulin, liver transplantation should be considered for patients with severe liver failure that does not respond to other medical treatment. Herein, we report the case of a two-month-old female infant who presented with persistent ascites and hyperbilirubinemia. Her laboratory findings demonstrated severe coagulopathy, high indirect and direct bilirubin levels, and high ferritin levels. Abdominal magnetic resonance imaging presented low signal intensity in the liver on T2-weighted images, suggesting iron deposition. The infant was diagnosed with NH as a result of the clinical findings and after congenital infection and metabolic diseases were excluded. The infant was successfully treated with a living-donor liver transplantation. Living related liver transplantation should be considered as a treatment option for NH in infants.

갑상선자극(甲狀腺刺戟)홀몬의 방사면역측정(放射免疫測定) - 제1편(第1編) 각종(各種) 갑상선질환(甲狀腺疾患)에 있어서 혈중(血中) TSH의 변동(變動) (Radioimmunoassay of Human Thyrotropin - Part 1. Plasma TSH levels in various thyroid functions)

  • 고창순;이홍규;노흥규;이문호
    • 대한핵의학회지
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    • 제6권2호
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    • pp.41-47
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    • 1972
  • The radioimmunoassay of human thyrotropin was performed in various thyroid states, utilizing the anti-h-T.S.H. antibody and purified human thyrotropin supplied from National Institute of Arthritis and Metabolic Diseases, Bethesda, Ma., U.S.A., and human thyrotropin standard-A obtained from National Institute for Biologic Standards, Mill Hill, London, England. $^{131}I$ labelled h-TSH was prepared after the Chloramine-T method of Greenwood et al. This double antibody system had a assay sensitivity of about $1.0{\mu}U/ml$ of plasma HTS-A and could detect the plasma h-TSH level in the euthyroid patients. Plasma h-TSH level of the normal 26 Korean was $1.1{\pm}0.83{\mu}U/ml$, and that of the 8 hypothyroidisms were 8.3 to $67.5{\mu}U/ml$. In hyperthyroidisms, no cases showed the plasma h-TSH levels over $1.0{\mu}U/ml$. Between the hypothyroidism and euthyroidsm, no overlap is noticed on plasma h-TSH levels. A case of transient hypothyroid state identified by determination of plasma h-TSH level is presented. These results revealed that the radioimmunoassay of h-TSH in plasma could be a sensitive method to diagnose the hypothyroidsm, if not caused by a pituitary disease.

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부인과 수술 후 통증관리에 있어서 프로파세타몰의 모르핀 절감 및 내분비 대사에 대한 효과 (The Effect of Postoperative Propacetamol on Acute Pain and Endocrine-Metabolic Response in Gynecological Surgery)

  • 한태형;서재완;신백효;손종찬
    • The Korean Journal of Pain
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    • 제10권2호
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    • pp.170-178
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    • 1997
  • Background: The analgesic efficacy and safety of propacetamol, an injectable prodrug of acetoaminophen, in combination with intravenous morphine PCA were studied in 40 patients after gynecological surgery requiring lower abdominal incision. Methods: Using a double-blind, randomized, parallel-group design, the effects of four(every 6 hr) intravenous injections of 2 g propacetamol(=1 g acetoaminophen) were compared with four injections of placebo(PL) immediately after surgery. Efficacy of cumulative dose of morphine and number of boluses requested was assessed over 24 hours by automated recording on the PCA device. It was assessed on pain scores rated on a ten-point verbal scale along with vital signs, $K^+$, glucose, BUN, creatinine, PT and PTT were measured along with stress hormones(epinephrine, norepinephrine and cortisol). Results: There were no differences in demographic data between two groups. Propacetamol group demonstrated approximately 21% morphine sparing effect compared to placebo group($33.1{\pm}10.4$ mg vs $41.4{\pm}8.0$ mg). No significant differences noted in $K^+$, glucose, BUN, Creatinine, PT and PTT levels. There were significant increases in norepinephrine and cortisol in placebo group postoperatively, compared to preoperative values. At the same time, propacetamol group also showed significant changes in these hormones. Both group revealed high degree of patient satisfaction. Conclusion: Propacetamol showed significant morphine sparing effect to some degree. Side effects were much less in propacetamol group with subsequently high patient satisfaction. The secretion of stress hormone were not blocked by postoperative propacetamol injections. Authors concluded that propacetamol should be considered as an excellent adjuvant analgesics in postoperative pain control in opioid patient controlled analgesia.

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Review on Clinical Trials of Black Seed (Nigella sativa) and Its Active Constituent, Thymoquinone

  • Tavakkoli, Alireza;Mahdian, Vahid;Razavi, Bibi Marjan;Hosseinzadeh, Hossein
    • 대한약침학회지
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    • 제20권3호
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    • pp.179-193
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    • 2017
  • Objectives: Nigella sativa (black seed or black cumin), which belongs to the Ranunculacea family, is an annual herb with many pharmacological properties. Among its many active constituents, thymoquinone (TQ) is the most abundant constituent of the volatile oil of Nigella sativa (N. sativa) seeds, and it is the constituent to which most properties of this herb are attributed. Methods: PubMed-Medline, Scopus, and Web of Science databases were searched to identify randomized control trials (RCTs) investigating the therapeutic effects of N. sativa and/or TQ. In this review, we investigated the clinical uses of N. sativa and TQ in the prevention and the treatment of different diseases and morbidity conditions in humans. Results: Black seed and TQ are shown to possess multiple useful effects for the treatment of patients with several diseases, such as inflammatory and auto-immune disorders, as well as metabolic syndrome. Also, other advantages, including antimicrobial, anti-nociceptive and anti-epileptic properties, have been documented. The side effects of this herbal medicine appear not to be serious, so it can be applied in clinical trials because of its many advantages. Conclusion: Some effects of N. sativa, such as its hypoglycemic, hypolipidemic and bronchodilatory effects, have been sufficiently studied and are sufficiently understood to allow for the next phase of clinical trials or drug developments. However, most of its other effects and applications require further clinical and animal studies.

외측 쐐기 깔창이 골관절염 환자의 내반슬에 미치는 영향에 관한 고찰 (A Review of Effects of Osteoarthritic Patient with a Varus Deformity of the Knee on Laterally Wedged Insole)

  • 이상용;신형수;배정수
    • 대한정형도수물리치료학회지
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    • 제11권1호
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    • pp.65-73
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    • 2005
  • Osteoarthritis has been considered a disease of the elderly because it is uncommon before the age of 40 years and is seen in approximately 80% of United States citizens older than 65 years. general population on kuri city in korea revealed that prevalence of knee osteoarthritis is 10.2%, increasing with age. High level of physical activity in men and age, post-menopause and obesity in women can be risk factor. Osteoarthritis is no evidence that a acquired process initiated much earlier in life through mechanical, metabolic, genetic, or other origins. A high tibial osteotomy alters static lower extremity alignment thereby decreasing medial compartment loading. As well, conservative treatment strategies, such as knee braces and valgus heel wedges, affect lover limb mechanics and attempt to reduce medial compartment loading. It was hypothesized that valgus heel wedges and modified orthoses would shift the center of pressure laterally on the foot during level walking, reducing the moment arm of the adduction moment in the frontal plane, thereby resulting in a decrease in the knee adduction moment. In the 1980s, the effect of wearing a laterally wedged insole on osteoarthritic patients with a varus deformity of the knee was firsted, and since then, kinematic and kinetic analyses concerning this condition have mainly focused on a static standing position. Since the early 1990s, the beneficial effect of wearing a laterally wedged insole to treat osteoarthritis of the knee has also been reported in dynamic conditions, but these studies did not answer the question of the kinematic and kinetic mechanisms that resulted in the reduced symptoms in patents with knee osteoarthritis. therefore, the effect of wearing laterally wedged insole has not been sufficiently studied.

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Lowe 증후군 환아의 전신마취를 이용한 치료증례보고 (TREATMENT OF THE CHILD WITH LOWE SYNDROME UNDER GENERAL ANESTHESIA: A CASE REPORT)

  • 장우혁;이긍호;최영철
    • 대한소아치과학회지
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    • 제29권2호
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    • pp.237-242
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    • 2002
  • Lowe 증후군 또는 안뇌신증후군(oculocerebrorenal syndrome)은 X-염색체와 관련된 유전성 질환으로 반성열성유전양상을 나타낸다. 선천성 백내장과 녹내장 등의 안 증상, 근긴장 저하 건반사감소 등의 근신경계 증상, 신장 기능이상이 가장 특징적인 임상 증상이며, 이외에도 정신 지체, 성장지연, 전두부 융기, 가늘고 성긴 모발, 돌출된 귀, 골질환 등이 발생할 수 있다. Lowe 증후군 환자는 정신지체로 인해 치과치료시 전신마취하에서의 처치가 요구되나, 대사성 산증, 악성고열의 발생위험과 사용약제에 의한 부작용 등이 위험요소로 작용할 수 있으므로, 필요한 경우 내과 또는 소아과 의료진이 참여된 협진체제 하에서 가능한 짧은 시간 진행되어야 한다. 이러한 치과적 처치의 어려움으로 Lowe 증후군 환자에서 치과질환의 예방이 좀더 강조되어야 하면, 이를 위해 보호자의 주위의 적극적 관리가 요구된다.

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