• Title/Summary/Keyword: Deficiency

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A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant, Each in cis Formation (Pseudodeficiency 및 potential late onset Pompe disease 보인자로 확인된 cis형 dual variant 돌연변이 두 개를 가진 여아 1례)

  • Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.2
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    • pp.58-62
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    • 2022
  • Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.

A Case of Urologic Manifestation of IARS2-associated Leigh Syndrome (IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례)

  • Hyunjoo Lee;Ji-Hoon Na;Young-Mock Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.23 no.1
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    • pp.25-30
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    • 2023
  • Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

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Korean nation-centralism and Confucianism(I) - the reflection of controlled modern rationality (한국의 국가 중심주의와 유교(I) - 통제적 근대 합리성에 관한 성찰 -)

  • Lee, Sang-bong;Rhee, Myung-su
    • The Journal of Korean Philosophical History
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    • no.28
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    • pp.237-266
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    • 2010
  • This thesis is to check whether the modernization, promoted mainly in 1960-1970 of Korea may have the relations with Confucian values or have a gap between this and that, and have the question about the idea of the appearance of modernity under Park Jung-hee's government, which is based on the viewpoint that Confucianism would have been made ill use of or have contribution to the nation-directing modernity, especially to the modernization of people. In a sense this thesis demands the overcome of the modern ills such as social dichotomy, leaving out matters of locals, and neglecting the diversities and singularities of creatures, resulted from efficiencies and uniformity caused by nation-centralism. At first Confucianism have represented humanism with a view to finding the mean between the two of locals, affairs, and men. As such it has seek to find centrality, which means my real mind for meeting outward things or the optimum as the mean, the best state between of the two. The political doctrines modified from Confucian learnings including chung, hyo, samgang, and oryun worked as the mechanism for finding nation-directing modernity. As a result we have lived in the modernity, strengthened by nation-centralism. And the leading concepts in related with Neo-Confucianism had people lose their spaces of desire for their own future or got them to be narrow. Accordingly the modernization of Korea means not an integral space in which we can achieve what we want in various aspects, but a deficient space to be complemented, resulted from the centralization of all conditions of life, dichotomous way of approaching matters by nation-centralism, far from being the essence of Confucianism. In the end the rapid modernization by the leaders in Korea has given rise to the concentration politics, economy, and so forth on Seoul as the center. Then we should deeply reflect the deficiency state of centralism like this and how Confucianism would have been responsible for it and will give how to relieve the unequal centralism of nation. Now for this matter we would like to expect our study in the future.v

A Study on Problems and Improvement of Home-help Services of Long-term Care Insurance (노인장기요양보험 재가서비스의 문제점과 개선방안)

  • Lee, Jun Woo;Jin, Hee
    • 한국노년학
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    • v.29 no.1
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    • pp.149-175
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    • 2009
  • The purpose of this research is to analyze the overall problems at the moment of October 2008, and then to find the improvements of home-help services of the Long-Term Care Insurance(LTCI), which has been revealed many problems since it was released in July 2008. The research uses the literature survey which analyzes 2nd-hand materials studied by other people already, and survey research was executed from active social workers in the area of LTCI. Based on the policy analysis framework of Gilbert and Specht, all the data are analyzed in the scopes of client·benefit(service)·finance·transferring system. This research has found the problems in each scope of home-help services of the LTCI. Firstly, the client system has some problems in mismatching between registered and service clients, estimating client number, and judging service levels. Secondly, the service system reveals deficiency in professionality of social workers, service quality lowering by loose qualification criteria on workers, non-reasonable limitation of service time available, and the same fare system applied to visiting-help service in spite of different levels. Thirdly, in financing system, clients need to pay additional money to get extra services such as meal, hair cutting, bathing etc., due to government financial support stopped, some organizations have to reduce services and replace full-time workers to part-time ones, which makes the service quality worse. Lastly, in the transferring system, the management system for service quality is not well prepared. There are too much competion because of allowing too many home-help service organizations and care worker academies. The suggestions that this research has found to improve the policy are as follows. ① It is desirable to make the registered clients the service ones as many as possible in the long term perspective. ② The LTCI organization requires more workers and higher professionality. ③ Many elderly people who are not eligible now require connection system to be more served. ④ Management system and service manual for care worker are to be developed. ⑤ Laws related to the service contents and process should be modified, the proportion of client charge needs to adjust. ⑥ Home-help service organization licensed by the LTCI needs to be financially supported publicly. ⑦ Monitoring system to home-help service organization needs to be strengthened. ⑧ Evaluation tools to home-help service organization and workers is required. ⑨ Specification to open the home-help service organization needs to be more strict.

Research on Immune Responses Induced by Salmonella Typhimurium Infectionin CRIP1-Deficient Condition (CRIP1결손조건 하에서 Salmonella Typhimurium 감염에 의해 유도되는 면역반응에 관한 연구)

  • Dongju Seo;Se-Hui Lee;Sun Park;Hyeyun Kim;Jin-Young Yang
    • Journal of Life Science
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    • v.34 no.1
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    • pp.48-58
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    • 2024
  • Salmonella is a common food-borne intracellular bacterial pathogen that has triggered significant public health concerns. Salmonella hosts' genetic factors play a pivotal role in determining their susceptibility to the pathogen. Cysteine-rich intestinal protein 1 (CRIP1), a member of LIM/double zinc finger protein family, is widely expressed in humans, such as in the lungs, spleen, and especially the gut. Recently, CRIP1 has been reported as a key marker of several immune disorders; however, the effect of CRIP1 on bacterial infection remains unknown. We aimed to elucidate the relationship between Salmonella infection and CRIP1 gene deficiency, as Salmonella spp. is known to invade the Peyer's patches of the small intestine, where CRIP1 is highly expressed. We found that CRIP1-deficient conditions could not alter the characteristics of bone marrow-derived myeloid cells in terms of phagocytosis on macrophages and the activation of costimulatory molecules on dendritic cells using ex vivo differentiation. Moreover, flow cytometry data showed comparable levels of MHCII+CD11b+CD11c+ dendritic cells and MHCII+F4/80+CD11b+ macrophages between WT and CRIP1 knockout (KO) mice. Interestingly, the basal population of monocytes in the spleen and neutrophils in MLNs is more abundant in a steady state of CRIP1 KO mice than WT mice. Here, we demonstrated that the CRIP1 genetic factor plays dispensable roles in host susceptibility to Salmonella Typhimurium infections and the activation of myeloid cells. In addition, differential immune cell populations without antigen exposure in CRIP1 KO mice suggest that the regulation of CRIP1 expression may be a novel immunotherapeutic approach to various infectious diseases.

Effects of Nitrogen Application Levels on Grain Yield and Yield-related Traits of Rice Genetic Resources (질소비료 시비 수준이 벼의 수량 및 수량구성요소에 미치는 영향)

  • Tae-Heon Kim;Suk-Man Kim
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.68 no.4
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    • pp.276-284
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    • 2023
  • Nitrogen is a major and essential macronutrient for plant growth and development. However, excessive nitrogen application can lead to ecological pollution or greenhouse gas emissions, consequently resulting in climate change. In this study, we used 153 genetic resources of rice to evaluate the effects of the levels of nitrogen application on grain yield and yield-related traits. Significant differences were noted in the yield and yield-related traits of genetic resources between two nitrogen application levels, namely, 4.5 kg/10a (NN: normal nitrogen condition) and 9.0 kg/10a (LN: low-nitrogen condition). Among the tested traits, days to heading (DTH), clum length (CL), grain yield per plant (GYP), number of panicles per plant (NPP), and number of spikelets per panicle (NSP) decreased by 1.8 to 17.9% when the nitrogen application levels decreased from NN to LN. The 1,000-grain weight (TWG) and percentage of ripened grain (PRG) increased by 2.6 to 11.2% under these conditions. Based on nitrogen application levels, two-way analysis of variance (ANOVA) demonstrated significant differences in GYP, NPP, and PRG but not in NSP and TGW. NPP exhibited negative correlations with NSP (-0.44) and TGW (-0.44), and TGW displayed a negative correlation with PRG (-0.34), whereas, GYP exhibited a positive correlation with PRG (0.37) and NSP (0.38). A similar pattern was recorded under the LN condition. NPP, TGW, and PRG were clustered as PA (principle axis) 1 under the LN condition by factor analysis. NSP and GYP were clustered as PA (principle axis) 2. These results demonstrated NPP and NSP as the primary factors contributing to the decrease in grain yield under LN conditions. In conclusion, we selected eight genetic resources that exhibited higher GYP under both NN and LN conditions with higher NPP or NSP. These genetic resources can be considered valuable breeding materials for the adaptation of plants to nitrogen deficiency.

Womans' Father Complex in Fairy-Tales - Focused on two Korean Fairy-Tales <Shimchung> und <Barli Princess> - (한국 민담에서 살펴본 여성의 부성 콤플렉스 - <심청전>과 <바리공주> 중심으로 -)

  • Youkyeng Lee
    • Sim-seong Yeon-gu
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    • v.25 no.1
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    • pp.65-101
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    • 2010
  • By considering the final purpose and meaning of two fairy-tales, we can summarize two things. Firstly, a woman with father complex not only positive, but also negative can easily sacrifice her femininity and her own personality as an individual. A woman with father complex has to get out of father imago. By separating from father imago, she can make her own steps to realize her own personality, namely individuation. During normal development, detachment to instinct and archetypal contents can cause problems normally to the ego consciousness. Contrary to this developmental notion, women with father complex experience problems because they are too closely attached to father archetype. Therefore, continuous excessive identification of ego with father imago or a state of ego caught by father imago leads to death of her own personality. Some women intentionally attach to father imago in order to be powerful or to receive magical power of father archetype to make compensation to her inferiority and deficiency. Weak ego wants to be stronger and superior by intentional attachment to father imago. Then, she can succeed in some tasks in life. But These successes are not by her own effort, but by magical or superhuman power of father imago. During early childhood, young girl with weak ego strongly attaches to father imago to make success and achieve goals by magical power. She wants to compensate her weak ego. But the more her ego makes successes in real life with help of father imago, the more she loses her own character or personality. Ego can be strong enough only when it is detached or separated itself from father imago. In other side, there is a woman destined to realize request by the father imago. She is chosen by the collective unconscious, though she try to run away from dominant power. In this case, ego of selected woman is not weak. She is destined to be a heroine. She knows that she has to complete every task given to her to realize what father imago wants, and she will not own any of her products at all. She is a real or true heroine. She wants to avoid her destiny, but she can't and should not do it. Secondly, a woman with father complex is called for again to save father imago or to solve problems of father imago. In this case, father imago of a woman should be considered to be related to the collective conscious. Therefore, it is said that all women with father complex are invited for healing the society or the collective consciousness. To complete this request, she has to heal herself by recovering her femininity. The healing power is based on the maternal receptive capacity. In modern society, the women are always demanded to be a social being. These social demands can make women caught by father complex. In this sense, number of women with father complex are increasing. Through the understanding of two fairy-tales, increased number of women with father complex should be easily considered as events at personal level, but seriously considered as a phenomenon reflecting problems in the collective consciousness of our age. In the other hand, all women with father complex are invited to solve the problem of modern society. She will be able to realize her own individuation without being possessed by father imago, to save our society and to become a heroine of our age.

Eros, Seduction for Redemption (에로스, 구원을 위한 유혹)

  • Jeeyoun Kim
    • Sim-seong Yeon-gu
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    • v.33 no.1
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    • pp.1-60
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    • 2018
  • The paper was inspired by Jung's words in the Red Book "just as Christ tormented the flesh through the spirit, the God of this time will torment the spirit through the flesh." I propose that the new form of torment in this era could be eroticism as a way of the individuation process because it seems to be one of a very few ways left to modern men to grasp the sense of permanence, the essence of the divine, without religion because of its peculiar nature of transcendence. I suppose that it is not only a man who is tortured but also god is in torment since the divine needs a man as a womb for his incarnation. Therefore I suggest that man and god are fated to seduce each other to be redeemed by each other. I imagine that Eros with numinous sexuality seduces a man who has potentials for the god's incarnation and who would be willing to give in to the god's demand. This god needs a man who desires his essence of perpetuity, the eternal water of life, in ecstasy. Thus the purpose of the divine's seduction is to make a man awake from unconsciousness to pursue god himself, namely the individuation process. I call such divine seduction "eroticism of god" There seem to be a certain type of people who are destined to live eroticism as a way of individuation process. Through investigations, a melancholic tendency appears to be suitable for this type of individuation. Melancholia is deeply related to the poignant awareness of impermanence as the existential condition, which is a precondition for seeking permanence through eroticism. Melancholia essentially causes deep longing for eternity that bears fulfillment, which exists in eroticism, so melancholic agony seems inevitable for eroticism as the path for individuation in that, without knowing about deficiency, we never seek what is lacking in us. It can also be viewed that while a lover is driven to seduce lost love, what actually waits to become seduced for redemption is the god of love itself behind the human beloved. Man and god are fated to seduce each other for redemption. I suppose that the initiation to Eros implies how to seduce Eros. In a woman's psyche, psychological virginity is one of the essential qualities that her ego needs to attain. To the male it is vital to live his sensuality thoroughly and to experience his own and his lover's emotions to their limit. It cannot be an easy task because it demands us to give up our egotism entirely. Through eroticism, unconsciousness seduces us to make us live life as a whole. The god of love brings powerful sexuality as a means of "spiritual crisis" to redeem our lukewarm soul. Only a few can withstand the experience since it requires a strong will to bear the brunt of the sword despite the keen awareness that it may leave us bleeding in pain.

Growth Response of Pinus rigida × P. taeda to Mycorrhizal Inoculation and Efficiency of Pisolithus tinctorius at Different Soil Texture and Fertility with Organic Amendment (리기테다 소나무의 균근(菌根) 접종(接種) 반응(反應)과 토양비옥도(土壤肥沃度)에 따른 모래밭 버섯의 효과(効果) 및 그 생태학적(生態學的) 의미(意味))

  • Lee, Kyung Joon
    • Journal of Korean Society of Forest Science
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    • v.64 no.1
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    • pp.11-19
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    • 1984
  • Potted, germinating Pinus rigida ${\times}$ P. taeda seedlings were inoculated with Pisolithus tinctorius (Pt) ectomycorrhizal fungus to test the effectiveness of Pt in relation to organic amendment and changes in soil fertility and soil texture. Pt was cultured as mycelia in vermiculite-peat moss mixture with nutrients and added to sterilized pot soils with or without organic amendment (fully fermented compost) at three soil texture levels (sand, loamy sand, and sandy loam) in a factorial design. Plants were grown in a greenhouse for 4 months and harvested to compare their growth with non-mycorrhizal plants and plants infected by natural fungi. Regardless of sod texture, soil fertility, or organic amendment, seedlings inoculated with Pt were better in dry weight and height than non-mycorrhizal plants or those infected by natural fungi. An exception was observed in the most fertile soil (0.075% N and 1.32% organic matter content in sandy loam with organic amendment), where non-mycorrhizal plants were slightly bigger (8%) and heavier (18%) than Pt-inoculated plants. In over-all average, Pt-inoculated seedlings were 30% taller and 107% heavier than those infected by natural fungi and 31 % taller and 60% heavier than non-mycorrhizal plants. Growth stimulation of seedlings by Pt was more pronounced in less fertile sand soil when organic was not amended. Mycorrhizal frequency of Pt (% of mycorrhizal root tips) was reduced to about half (from 84 to 33% in sandy loam and from 77 to 40% in loamy sand) by organic amendment, while that of natural fungi was not significantly affected. Severe nitrogen deficiency was observed in the needles of non-mycorrhizal plants (1.38% N), while both Pt-inoculated plants (1.68% N) and those infected by natural fungi (1.89% N) did not develop symptom, suggesting an active role of mycorrhizae in absorption of soil nitrogen. Top to root ratio increased with organic amendment to non-mycorrhizal plants, but was not significantly affected by fungal treatment. It was concluded from this study that relative effectiveness of Pt was determined by soil fertility. Organic amendment to less fertile sand soil increased effectiveness of Pt, while the same amendment to more fertile loamy sand and sandy loam decreased effectiveness of Pt. Benefits of Pt mycorrhizae would be expected most either when organic was not added to the soil, or when soil nutrients were not abundant.

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Studies on Ancylostomiasis I. An Experimental Study on Hookworm Infection and Anemia (구충증(鉤蟲症)에 관(關)한 연구(硏究) 제1편(第1篇) 구충(鉤蟲)의 감염(感染) 및 구충성빈혈(鉤蟲性貧血)에 관(關)한 고찰(考奈))

  • Lee, Mun-Ho;Kim, Dong-Jip;Lee, Jang-Kyu;Seo, Byong-Sul;Lee, Soon-Hyung
    • The Korean Journal of Nuclear Medicine
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    • v.1 no.1
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    • pp.55-66
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    • 1967
  • In view of its prevalence in the Far East area, a more detailed knowledge on the hookworm infection is one of the very important medical problems. The present study was aimed to; determine the infectivity of the artificially hatched ancylostoma duodenale larvae in man after its oral administration, evaluate the clinical symptomatology of such infection, determine the date of first appearance of the ova in the stool, calculate the blood loss per worm per day, assess the relation-ships between the ova count, infectivity(worm load), blood loss and severity of anemia. An erythrokinetic study was also done to analyse the characteristics of hookworm anemia by means of $^{59}Fe\;and\;^{51}Cr$. Materials and Methods Ten healthy male volunteers(doctors, medical students and laboratory technicians) with the ages ranging from 21 to 40 years were selected as the experimental materials. They had no history of hookworm infection for preceding several years, and care was taken not to be exposed to reinfection. A baseline study including a through physical examinations and laboratory investigations such as complete blood counts, stool examination and estimation of the serum iron levels was done, and a vermifuge, bephenium hydroxynaphoate, was given 10 days prior to the main experiment. The ancylostoma duodenale filariform larvae were obtained in the following manner; The pure ancylostoma duodenale ova were obtained from the hookworm anemia patients and a modified filter paper method was adopted to harvest larger number of infective larvae, which were washed several times with saline. The actively moving mature larvae were put into the gelatine capsules, 150 in each, and were given to the volunteers in the fasting state with 300ml. of water. The volunteers were previously treated with intramuscular injection of 15mg. of chlorpromazine in order to prevent the eventual nausea and vomiting after the larvae intake. The clinical symptoms and signs mainly of the respiratory and gastrointestinal tracts, appearance of the ova and occult blood in the stool etc. were checked every day for the first 20 days and then twice weekly until the end of the experiment, which usually lasted for about 3 months. Roentgenological survey of the lungs was also done. The hematological changes such as the red blood cell, white blood cell and eosinophil cell counts, hemoglobin content and serum iron levels were studied. The appearance of the ova in the stool was examined by the formalin ether method and the ova were counted in triplicate on two successive days using the Stoll's dilution method. The ferrokinetic data were calculated by the modified Huff's method and the apparent half survival time of the red blood cells by the modified Gray's method. The isotopes were simultaneously tagged and injected intravenously, and then the stool and blood samples were collected as was described by Roche et al., namely, three separate 4-day stool samples with the blood sample drawing before each 4-day stool collection. The radio-activities of the stools ashfied and the blood were separately measured by the pulse-height analyser. The daily blood loss was calculated with the following formula; daily blood loss in $ml.=\frac{cpm/g\;stool{\times}weight\;in\;g\;of\;4-day\;stool}{cpm/ml\;blood{\times}4}$ The average of these three 4-day periods was given as the daily blood loss in each patient. The blood loss per day per worm was calculated by simply dividing the daily blood loss by the number of the hookworm recovered after the vermifuge given twice a week at the termination of the experiment. The iron loss in mg. through the gastrointestinal tract was estimated with the daily iron loss in $mg=\frac{g\;Hgb/100ml{\times}ml\;daily\;blood\;loss{\times}3.40}{100}$ 3.40=mg of iron per g Hgb following formula; Results 1. The respiratory symptoms such as cough and sputum were noted in almost all cases within a week after the infection, which lasted about 2 weeks. The roentgenological findings of the chest were essentially normal. A moderate degree of febril reaction appeared within 2 weeks with a duration of 3 or 4 days. 2. The gastrointestinal symptoms such as nausea, epigastric fullness, abdominal pain and loose bowel appeared in all cases immediately after the larvae intake. 3. The reduction of the red blood cell count was not remarkable, however, the hemoglobin content and especially the serum iron level showed the steady decreases until the end of the experiment. 4. The white blood cells and eosinophil cells, on the contrary, showed increases in parallel and reached peaks in 20 to 30 days after the infection. A small secondary rise was noted in 2 months. 5. The ova first appeared in the stool in 40. 1 days after the infection, ranging from 29 to 51 days, during which the occult blood reaction of the stool became also positive in almost cases. 6. The number of ova recovered per day was 164, 320 on the average, ranging from 89,500 to 253,800. The number of the worm evacuated by vermifuge was in rough correlation with the number of ova recovered. 7. The infectivity of ancylostoma duodenale was 14% on the average, ranging from 7.3 to 20.0%, which is relatively lower than those reported by other workers. 8. The mean fecal blood loss was 5.78ml. per day, with a range of from 2.6 to 11.7ml., and the mean blood loss per worm per day was 0.30ml., with a range of from 0.13 to 0.73ml., which is in rough coincidence with those reported by other authors. There appeared to exist, however, no correlation between the blood loss and the number of ova recovered. 9. The mean fecal iron loss was 2.02mg. per day, with a range of from 1.20 to 3.89mg., which is less than those appeared in the literature. 10. The mean plasma iron disappearance rate was 0.80hr., with a range of from 0.62 to 0.95hr., namely, a slight accerelation. 11. The hookworm anemia appeared to be iron deficiency in origin caused by continuous intestinal blood loss.

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