• 제목/요약/키워드: Blood Deficiency

검색결과 778건 처리시간 0.023초

한국인에서의 사이트린 결핍증의 경험 (Korean Experiences of Citrin Deficiency: Seven cases of citrin deficiency and nine major mutation screening in newborns in Korea)

  • 김주현;김구환;유한욱
    • 대한유전성대사질환학회지
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    • 제6권1호
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    • pp.96-107
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    • 2006
  • Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

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An Evaluation of a New Quantitative Point-of Care Diagnostic to Measure Glucose-6-phosphate Dehydrogenase Activity

  • Bahk, Young Yil;Ahn, Seong Kyu;Jeon, Heung Jin;Na, Byoung-Kuk;Lee, Sung-Keun;Shin, Ho-Joon
    • Parasites, Hosts and Diseases
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    • 제60권4호
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    • pp.281-288
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    • 2022
  • Malaria continues to be one of the most crucial infectious burdens in endemic areas worldwide, as well as for travelers visiting malaria transmission regions. It has been reported that 8-aminoquinolines are effective against the Plasmodium species, particularly primaquine, for anti-hypnozoite therapy in P. vivax malaria. However, primaquine causes acute hemolytic anemia in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Therefore, G6PD deficiency testing should precede hypnozoite elimination with 8-aminoquinoline. Several point-of-care devices have been developed to detect G6PD deficiency. The aim of the present study was to evaluate the performance of a novel, quantitative G6PD diagnostics based on a metagenomic blue fluorescent protein (mBFP). We comparatively evaluated the sensitivity and specificity of the G6PD diagnostic modality with standard methods using 120 human whole blood samples. The G6PD deficiency was spectrophotometrically confirmed. The performance of the G6PD quantitative test kit was compared with that of a licensed control medical device, the G6PD strip. The G6PD quantitative test kit had a sensitivity of 95% (95% confidence interval (CI): 89.3-100%) and a specificity of 100% (95% CI: 94.3-100%). This study shows that the novel diagnostic G6PD quantitative test kit could be a cost-effective and time-efficient, and universally mandated screening tool for G6PD deficiency.

乾癬에 對한 東.西醫 文獻的 硏究 (The Oriental and Occidental bibliographic Study of Psoriasis)

  • 김남권;황충연;임규상
    • 한방안이비인후피부과학회지
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    • 제12권1호
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    • pp.154-178
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    • 1999
  • Psoriasis is the recurrent disease of skin and till now its mechanism, pathogenesis and treatment are not clearly discovered. So, like these papers, we must investigate more safety and effective treatment of psoriasis. And I obtained the following condusions from the Oriental and Occidental bibliographic investigation. 1. In Oriental medicine. Baikbi, Pungsun, Eunselbyong, Songpisun, Baikselpung were the other names of Psoriasis. 2. In Occidental medicine, genetic factors, aggravation and inducible factors, biochemical factors, immunologic factors, disorder of epidermal kinetics, vascular malformation of dermis were cosidered to the pathogenic factors of psoriasis. 3. In Oriental medicine, the pathogenic factors of psoriasis were divided two parts. One is exogenous pathogenic factors which including the blood-heat, blood dryness, blood stasis, deficiency of liver and kidney, inharmony of impulsive and appointed pulsation, deficiency of blood. The other is exogenous pathogenic factors which including the wind-evil, wind-wetness, wind-heat, wind-cold, wetness-heat, cold-wetness, heat-evil. 4. In Occidental medicine, external applicative medicine, internal medicine, ultraviolet therapy, ultraviolet - external applicative medicine compound therapy and etc. were used the therapy of psoriasis. 5. In Oriental medicine, clean away heat and cooling blood, aliment the blood and moisturize, activating blood and expelling blood stasis, harmonize and invigorate the liver and kidney, invigorate the kidney, aliment the blood and moisturize the skin, aliment the blood and expelling the wind, expelling the wind and wetness, clean away heat and expelling wind, expelling the wind and scatter the cold, clean away heat and expelling the wetness, heat up the meridian and scatter the cold, clean away heat and remove the toxin and etc. were used the method of internal therapy of psoriasis. 6. Until Qing dynasty, wind expelling effective prescriptions like Bangpungtongsungsan, Sopungsan. Supungsunkisan and etc. were used and recently Yanghyelgeupungtang, Hwalhyelgeupungtang, Samultanggagam and etc. were used the internal therapy of psoriasis. 7. In the external therapy of psoriasis, Yuhonggo, Pungyugo, Sekryupiyeongo were used the plaster therapy and Folium Rerillae, Camphora, Fructus, Xanthii, Herba Spirodelae compound prescription were used the cleansing therapy, Okgisan, Chiunsan, Galmyogo, Hobunsan, Muisan, Madugo, Jeyugohengin were used the rubbing skin therapy. Rangdok Radix Aconiti, Bijeonilchoalkwang were used the attaching therapy, the extract of Rhizoma Et Radix Veratri was used the spreading pouder therapy. 8. In the acupuncture therapy of psoriasis, the Jelgol, chok Samni(S36), Kansa(P5), Haegye(S41), Wijung(B40) and etc. were used the acupuncture point, and the angle of helix incision threapy that disinfect and cut the angle of helix and plaster the Semen Glycine and Squama Manitis were used.

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Effects of cord blood vitamin D levels on the risk of neonatal sepsis in premature infants

  • Say, Birgul;Uras, Nurdan;Sahin, Suzan;Degirmencioglu, Halil;Oguz, Serife Suna;Canpolat, Fuat Emre
    • Clinical and Experimental Pediatrics
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    • 제60권8호
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    • pp.248-253
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    • 2017
  • Purpose: Vitamin D plays a key role in immune function. Vitamin D deficiency may play a role in the pathogenesis of infections, and low levels of circulating vitamin D are strongly associated with infectious diseases. In this study, we aimed to evaluate the effects of low vitamin D levels in cord blood on neonatal sepsis in preterm infants. Methods: One hundred seventeen premature infants with gestational age of <37 weeks were enrolled. In the present study, severe vitamin D deficiency (group 1) was defined as a 25-hydroxyvitamin D (25(OH)D) concentration <5 ng/mL; vitamin D insufficiency (group 2), 25(OH)D concentration ${\geq}5ng/mL$ and <15 ng/mL; and vitamin D sufficiency (group 3), 25(OH)D concentration ${\geq}15ng/mL$. Results: Sixty-three percent of the infants had deficient levels of cord blood vitamin D (group 1), 24% had insufficient levels (group 2), and 13% were found to have sufficient levels (group 3). The rate of neonatal sepsis was higher in group 2 than in groups 1 and 3. Conclusion: There was no significant relationship between the cord blood vitamin D levels and the risk of neonatal sepsis in premature infants.

자궁암 치료 한약물에 대한 문헌적 고찰 (Bibliographical Review on Oriental Medicine Herbal Treatment for Uterine Carcinoma)

  • 신지나;남동우;오연석;이은옥;안규석;김성훈
    • 동의생리병리학회지
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    • 제22권3호
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    • pp.507-515
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    • 2008
  • To make a bibliographical review on the most frequently used prescriptions and herbs in treating the uterine carcinoma. 43 texts in China and 6 texts in Korea published since 1980 were reviewed for this objective. 590 Oriental Herbal Medicine formulas composed of 457 herbs were investigated. The frequency and efficacy of each herb used were statistically analyzed. The most frequently used herbal medicine formulas were Danchisoyosan in hepatic Qi stasis, Sihosogan-tang mixed with Lungeumdaebo-tang in damage of conception and thoroughfare vessel, Danchisoyosangagam in blood heat, Hoangyunhaedok-tang in pattern of retained dampness-heat, Jibapjihang-tang in iver-kidney yin deficiency pattern, Naebohyunhapsamyoungbaekchulsan in spleen-kidney yang deficiency pattern. The herbal medicines most frequently used were; Angelicae gigantis radix(126 times), Phellodendri cortex(91 times), Borneolum(87 times), Glycyrrhizae radix and Paeoniae radix alba(82 times), Realgar and Alumen(80times), Poria(77 times), Astragali radix(75 times), Moschus and Myrrha(74 times), Coicis semen and Olibanum(73 times), Codonopsis pilosulae radix and Scutellaria bardata Don(70 times) etc. The effect of the most frequently used herbs were : heat-clearing medicine(12), blood-circulation and stasis-dispelling medicine(9), tonifying and replenishing medicine(5), ointments(5), heat-clearing and blood-cooling medicine(3) and etc. The most frequently used herbs may be applied in future animal studies and clinical trials. Also this data can be used as a reference in formulating new Oriental Herbal Medicine formulas for uterine carcinoma.

모체 빈혈이 제대 혈의 철영양상태와 임신의 결과에 미치는 영향 (Effects of Maternal Anemia on the Iron Status of the Cord Blood and Pregnancy Outcomes)

  • 임현숙;김희아
    • 대한지역사회영양학회지
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    • 제3권4호
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    • pp.565-573
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    • 1998
  • Iron deficiency anemia in pregnant women has been of great concern because of its negative effects on the outcomes of pregnancy. Much of evidence has shown that there are associations between pregnancy outcomes and maternal iron status. Maternal iron status might affect pregnancy outcomes through the iron status of the cord blood. In this study, we divided 91 subjects into two groups : the anemic and the normal groups. The groups were classified according to their hemoglobin(Hb) and hematocrit(Hct) values of the maternal blood in the third trimester of the pregnancies. We determined the parameters for the iron status of the cord blood and then analyzed the correlations between these parameters and the pregnancy outcomes. Mothers in the anemic group had a significantly higher parity number and a lower dietary score as well as a shorter duration of iron supplements consumed compared to those in the normal group. Maternal Hb values in the third trimester had positive correlations with the infant's head and chest circumferences, and the Hct values related positively to the infant's chest circumferences. On the other hand, Hb concentrations of the cord blood had positive correlations with the infant's height and head and chest circumferences. The Hct values of the cord blood had positive correlations with gestational periods and the cord lengths. These results suggest that the maternal iron status might influence fetal development through the iron status of the cord blood.

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Role of heavy metals in human health and particularly in respect to diabetic patients

  • Asif, Mohammad
    • 셀메드
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    • 제7권1호
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    • pp.1.1-1.10
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    • 2017
  • Minerals are individual of the components of foods and are not produced in the body but essential for best possible health. Several essential metals are vital for the appropriate performance of various enzymes, transcriptional factors and proteins that are essential in various biochemical paths. Metals like zinc (Zn), magnesium (Mg), and manganese (Mn) are cofactors of hundreds of enzymes. Zn is involved in the synthesis and secretion of insulin from the pancreatic ${\beta}-cells$. Chromium (Cr) increases the insulin receptors activity on target tissues, mainly in muscle cells. Insulin hormone is required to maintain the blood glucose amount in normal range. Continual increase of blood serum glucose level leads to marked chronic hyperglycemia or diabetes mellitus. Deficiency of insulin or its resistance, blood glucose level exceeds the upper limit of the common range of 126 mg/dl. Poor glucose control and diabetes changes the levels of essential trace elements such as Zn, Mg, Mn, Cr, iron etc. by rising urinary excretion and their related decrease in the blood. The aim of this article to discusses the important roles of essential trace elements in particular perspective of type 2 diabetes.

일부 여대생의 영양소 섭취상태, 빈혈 지표 및 혈청 지질간의 상관성에 관한 연구 (Relationship among Nutrient Intake, Indices of Anemia and Serum Lipids in Korean College Women)

  • 김미정;노숙령
    • 동아시아식생활학회지
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    • 제9권3호
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    • pp.302-314
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    • 1999
  • This study was conducted to evaluate nutrient intake, indices of anemia, serum lipids, and their correlations in 40 Korean female college students aged 21 to 25 years. Fasting blood samples were collected in October. 1997 Nutrient intake was investigated by 24-hour recall method for three days. Anthropometric measurements, blood pressure, iron status and serum lipids of the subjects were determined. The mean values for age. height, weight, BMI and blood pressure of the subjects were 22.1 years, 160.6cm, 54.4kg and 109.1/66.9mmHg, respectively. According to the body composition analysis, total body water, % body fat, lean body mass and WHR were 26.7L. 29.5%, 36.5kg and 0.8, respectively. Average daily intake of energy was 1,858.4kcal. Protein, phosphorus, vitamin B$_1$, vitamin B$_2$, niacin and vitamin C intakes were higher than the Korean recommended dietary allowence(RDA), whereas calcium, iron, vitamin A intakes were tower than that. Hemoglobin(Hb), hematocrit(Hct), serum iron(SI) and total iron binding capacity(TIBC) were measured and transferrin saturation (TS%) was calculated from serum. The mean values for Hb, Hct, SI, TIBC and TS were 13.6$\mu\textrm{g}$/㎗, 41.6%,97.8$\mu\textrm{g}$/㎗, 319.6$\mu\textrm{g}$/㎗ and 31.9%, respectively. The Prevalence rates of iron deficiency assessed by Hb and Hct were found to be 10% and 2.5%, respectively. However, when assessed with TIBC, the prevalence rate of iron deficiency was increased to 32.5%. The mean values for serum triglyceride(TG), total cholesterol(TC), HDL-Chol, LDL-Chol concentrations and atherogenic index(AI) were 154.7mg/㎗, 80.0mg/㎗, 47.4mg/㎗, 91.3mg/㎗ and 2.6, respectively. Correlations among indices of anemia. there were positive correlations between Hb and Hct, between SI and TS : negative correlations between TIBC and TS or SI. Correlations among serum lipids, there were positive correlations between TC and TG or LDL-cholesterol. Energy intakes were correlated positively with TIBC(p<0.05), and vitamin C intakes negatively correlated with Hb(P<0.05). And vitamin A intakes were negatively correlated with TG(p<0.01). TC(p<0.05) and LDL-Chol(p<0.01). Hb negatively correlated with TG(P<0.05). Body weights(p<0.05), lean body mass(p<0.05) and total body water(p<0.01) werenegatively correlated with Hb. BMI and WHR correlated with TG and TC(p<0.01). These results indicated that subjects with higher energy intake and overweight had a tendency to have iron deficiency. Increases in BMI and WHR were related to increases in serum lipids levels and decreases in TIBC. The results also showed that serum lipids were decreased when vitamin A and iron intakes were sufficient.

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경도인지장애와 경도치매 단계에서의 한의 변증 및 간 혈액지표 연관성 탐색 연구 (Association of Korean Medicine Pattern Identifications and Liver Blood Markers with the Severity of Cognitive Impairment in an Elderly Population)

  • 김가혜;차지윤;김슬기;강형원;유영수;정인철;김재욱
    • 동의신경정신과학회지
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    • 제34권3호
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    • pp.141-150
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    • 2023
  • Objectives: This study aimed to comprehend the characteristics of Korean medicine patterns in relation to varying degrees of cognitive impairment in an elderly population. Methods: The dataset included 127 elderly individuals with cognitive impairment obtained from three Korean medicine hospitals between 2018 and 2021. The participants were categorized into two groups based on Clinical Dementia Rating-Sum of Boxes (CDR-SB) scores: those with questionable impairment (QI) and those with very mild dementia (VMD). A diagnostic framework for Korean medicine patterns encompassing Qi deficiency, Yin deficiency, Phlegm dampness, and Heat-fire was employed. Liver blood markers, including aspartate aminotransferase (AST), alanine aminotransferase (ALT), and the AST/ALT ratio, were also analyzed. Results: The scores of the cognitive assessment tools (MoCA-K, MMSE-DS, and K-IADL) of the QI group significantly differed from those of the VMD group. CDR-SB exhibited a positive correlation with the scores of each pattern of Qi deficiency, Yin deficiency, Phlegm dampness, and Heat-fire, whereas ALT and AST values displayed negative correlations. Binomial logistic analysis, controlling for potential confounders, such as age, education years, body mass index, the presence of chronic disease, and the presence of medication, verified that the VMD group showed higher pattern scores and lower ALT and AST values than the QI group. Conclusions: Increases in pattern scores along with decreased AST and ALT levels might be indicative of more severe cognitive impairment.

반복적인 구토 및 간헐적 의식 변화를 주소로 진단된 Ornithine Transcarbamylase Deficiency 여아 1례 (A Case of Ornithine Transcarbamylase Deficiency in 11-month-old Female who Presented Periodic Vomiting and Intermittent Consciousness Change)

  • 김진아;김진섭;허림;조성윤;진동규
    • 대한유전성대사질환학회지
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    • 제15권3호
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    • pp.165-170
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    • 2015
  • 저자들은 출생 직후에서 생후 7개월까지는 특별한 과거력 없이 건강하게 지내던 여아에서 생후 11개월에 반복적인 구토 및 간헐적인 의식변화와 경련으로 시행한 검사 결과 고암모니아 혈증 및 소변 orotic acid의 증가를 통해 OTC 결핍증을 진단하고, 분자 유전자 검사로 418번째 염기인 G가 C로 치환되어 140번 아미노산이 alanine에서 proline으로 바뀌는 돌연변이(p. Ala140Pro)를 확인한 1례를 경험하였기에 보고하는 바이다. 본 증례의 돌연변이는 환아의 부모 유전자 분석 결과 정상 소견으로 de novo mutation으로 사료된다. 환아는 출생 후 수 개월간 큰 이상 없이 성장 및 발달을 보였으나 생후 7개월 경부터 주기적인 구토 증세를 보였던 지발형 OTC 결핍증에 해당한다. 진단 후 arginine 및 phenylbutylate를 지속적으로 복용하며 저단백 식이를 유지하는 보존적 치료를 지속하여 현재 발달 및 성장 속도 양호하며 일상생활에 문제없이 지내고 있다. 따라서 출생 후 수개월간 특이 질환력이 없는 환아, 특히 여아에서 주기적인 구토, 기면, 경련 및 혼수 등의 증상을 보일 때 지발형 OTC 결핍증과 같은 대사질환을 의심할 수 있어야 한다. 본 증례는 반복적인 구토 및 의식변화를 보인 기저질환 없는 11개월 여아에서 OTC 결핍증을 진단하고 즉각적인 대처를 통해 7세까지 심각한 신경학적 장애 없이 정상적인 성장과 발달을 보인 환자를 보고하는 바이다.