• Title/Summary/Keyword: Family Deficiency

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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.

A Case of Glycogen Storage Disease Type Ia Confirmed by Biopsy and Enzyme Assay (제Ia형 당원병 1례 (Glycogen Storage Disease , Type Ia))

  • Meen Sang-Ae;Rho Kwang-Sik;Kim Pyung-Kil;Jeong Hyeon-Joo;Park Young-Nyeon;Kim Myung-Joon;Kim Ji-Hong
    • Childhood Kidney Diseases
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    • v.2 no.1
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    • pp.77-81
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    • 1998
  • The author exprienced a case of glycogen storage disease type Ia(GSD-I) in an 18-year-old male patient who was admitted to our hospital due to proteinuria and hypertension. he was suspected to have GSD when 12 years old because of his family history of short stature and hepatomegaly. On admission, physical examination revealed short stature, heparomegaly, and The diagnosis of GSD-I was confirmed by compatible liver biopsy finding and enzyme assay which erealeddeficiency of glcose-6-phosphatase if hepatocyte. Sympromatic treatment was done using antihypertensive drugs and allopurinol with diet control. The authors report a case of glycogen storage disease type Ia completely confirmed by typical clinical manifestation, pathologic findings of the liver and the kidney, and the result of enzyme assay which revealed deficiency of glucose-6-phosphatase in hepatocytes with brief review fo related literatures.

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The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome (한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석)

  • Park, Sang-Jin;Kim, Sook-Ryung;Baek, Kum-Nyeo;Yoon, Joon-No;Jeong, Eun-Jeong;Kown, Ji-Eun;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.133-141
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    • 2007
  • Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

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Clinical and Cytogenetic Analysis of Children with Maternal Chromosomal Balanced Translocation (모체의 염색체 균형전좌를 가진 환아들의 임상적 세포 유전학적 관찰)

  • Lim, Han Hyuk;Jeong, Hee Jeong;Park, Kyung Duk;Kim, Sook Ja
    • Clinical and Experimental Pediatrics
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    • v.48 no.7
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    • pp.701-705
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    • 2005
  • Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing (엑솜 시퀀싱으로 진단된 가족성 당원병 IXa 형 증례)

  • Sohn, Young Bae;Jang, Ju Young;Lee, Dakeun;Jang, Ja-Hyun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.96-102
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    • 2017
  • Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

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한국인 좌심실 비대증 환자들에서 파브리병 선별검사의 의의

  • Park, Hyeong-Du;Jo, Seong-Yun;Lee, Su-Yeon;Jeon, Eun-Seok;Park, Seung-U;Lee, Sang-Hun;Lee, Sang-Cheol;Choe, Jin-O;Park, Seong-Ji;Jang, Seong-A;Kim, Hyeong-Gwan;Gi, Chang-Seok;Kim, Jong-Won;Jin, Dong-Gyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.135-141
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    • 2014
  • Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.

Melanogenesis regulatory constituents from Premna serratifolia wood collected in Myanmar

  • WOO, SO-YEUN
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2019.04a
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    • pp.21-22
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    • 2019
  • Melanin is a mixture of pigmented biopolymers synthesized by epidermal melanocytes that determine the skin, eye, and hair colors. Melanocytes produce two different kinds of melanin, eumelanin (dark brown/black insoluble pigments found in dark skin and dark hair and pheomelanin (lighter red/yellow). The biological role of melanin is to prevent skin damage by ultraviolet (UV) radiation. However, the overproduction or deficiency of melanin synthesis could lead to serious dermatological problems, which include melasma, melanoderma, lentigo, and vitiligo. Therefore, regulating melanin production is important to prevent the pigmentation disorders. Myanmar has a rich in natural resources. However, the chemical constituents of these natural resources in Myanmar have not been fully investigated. In the effort to search for compounds with anti-melanin deposition activity from Myanmar natural resources, five plants were collected in Myanmar. Extracts of these collected five plants were tested for anti-melanin deposition activity against a mouse melanoma cell line (B16-F10) induced with ${\alpha}$-melanocyte-stimulating hormone (${\alpha}$-MSH) and 3-isobutyl-1-methylxanthine (IBMX), and their anti-melanin deposition activities were compared with the positive control, arbutin. Among the tested extracts, the CHCl3 extracts of the Premna serratifolia (syn: P. integrifolia) wood showed anti-melanin deposition activities with IC50 values of $81.3{\mu}g/mL$. Hence, this study aims to identify secondary metabolites with anti-melanin deposition activity from P. serratifolia wood of Myanmar. P. serratifolia belongs to the Verbenaceae family and is widely distributed in near western sea coast from South Asia to South East Asia, which include India, Malaysia, Vietnam, Cambodia, and Sri Lanka. People in Tanintharyi region located in the southern part of Myanmar utilize the P. serratifolia, Sperethusa crenulata, Naringi crenulata, and Limonia acidissima as Thanaka, traditional cosmetics in Myanmar. Thanaka is applied in the form of paste onto skins to make it smooth and clear, as well as to prevent wrinkles, skin aging, excessive facial oil, pimples, blackheads, and whiteheads. However, the chemical constituents responsible for their cosmetic properties are yet to be identified. Moreover, the chemical constituents of P. serratifolia was almost uncharacterized. Investigation of the P. serratifolia chemical constituents is thus an attractive endeavor to discover new anti-melanin deposition active compounds. The investigation of the chemical constituents of the active CHCl3 extract of P. serratifolia led to isolation of four new lignoids, premnan A (1), premnan B (2), taungtangyiol C (3), and 7,9-dihydroxydolichanthin B (4), together with premnan C (5) (assumed to be an artifact), one natural newlignoid,(3R,4S)-4-(1,3-benzodioxol-5-ylcarbonyl)-3-[(R)-1-(1,3-benzo dioxol-5-yl)-1-hydroxy methyl]tetrahydro-2-furanone (6), and five known compounds (7-11)1,2). The structures of all isolated compounds were determined on the basis of their spectroscopic data and by comparison with the reported literatures. The absolute configurations of 1-3 and 5 were also determined by optical rotation and circular dichroism (CD) data analyses1). The anti-melanin deposition activities of all the isolated compounds were evaluated against B16-F10 cell line. 7,9-Dihydroxydolichanthin B (4) and ($2{\alpha},3{\alpha}$)-olean-12-en-28-oic acid (11) showed strong anti-melanin deposition activities with IC50 values of 18.4 and $11.2{\mu}M$, respectively, without cytotoxicity2). On the other hand, compounds 1-3, 5, and 7 showed melanogenesis enhancing activities1). To better understand their anti-melanin deposition mechanism, the effects of 4 and 11 on tyrosinase activities were investigated. The assay indicated that compounds 4 and 11 did not inhibit tyrosinase. Furthermore, we also examined the mRNA expression of microphthalmia-associated transcription factor (MITF), tyrosinase (TYR), tyrosinase-related protein-1 (TRP-1), and tyrosinase-related protein-2 (TRP-2). Compounds 4 and 11 down-regulated the expression of Tyr and Mitf mRNAs, respectively. Although the P. serratifolia wood has been used as traditional cosmetics in Myanmar for centuries, there are no scientific evidences to support its effectiveness as cosmetics. Investigation of the anti-melanin deposition activity of the chemical constituents of P. serratifolia thus provided insight into the effectiveness of the P. serratifolia wood as a cosmetic agent.

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A Study Concerning Health Needs in Rural Korea (농촌(農村) 주민(住民)들의 의료필요도(醫療必要度)에 관(關)한 연구(硏究))

  • Lee, Sung-Kwan;Kim, Doo-Hie;Jung, Jong-Hak;Chunge, Keuk-Soo;Park, Sang-Bin;Choy, Chung-Hun;Heng, Sun-Ho;Rah, Jin-Hoon
    • Journal of Preventive Medicine and Public Health
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    • v.7 no.1
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    • pp.29-94
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    • 1974
  • Today most developed countries provide modern medical care for most of the population. The rural area is the more neglected area in the medical and health field. In public health, the philosophy is that medical care for in maintenance of health is a basic right of man; it should not be discriminated against racial, environmental or financial situations. The deficiency of the medical care system, cultural bias, economic development, and ignorance of the residents about health care brought about the shortage of medical personnel and facilities on the rural areas. Moreover, medical students and physicians have been taught less about rural health care than about urban health care. Medical care, therefore, is insufficient in terms of health care personnel/and facilities in rural areas. Under such a situation, there is growing concern about the health problems among the rural population. The findings presented in this report are useful measures of the major health problems and even more important, as a guide to planning for improved medical care systems. It is hoped that findings from this study will be useful to those responsible for improving the delivery of health service for the rural population. Objectives: -to determine the health status of the residents in the rural areas. -to assess the rural population's needs in terms of health and medical care. -to make recommendations concerning improvement in the delivery of health and medical care for the rural population. Procedures: For the sampling design, the ideal would be to sample according to the proportion of the composition age-groups. As the health problems would be different by group, the sample was divided into 10 different age-groups. If the sample were allocated by proportion of composition of each age group, some age groups would be too small to estimate the health problem. The sample size of each age-group population was 100 people/age-groups. Personal interviews were conducted by specially trained medical students. The interviews dealt at length with current health status, medical care problems, utilization of medical services, medical cost paid for medical care and attitudes toward health. In addition, more information was gained from the public health field, including environmental sanitation, maternal and child health, family planning, tuberculosis control, and dental health. The sample Sample size was one fourth of total population: 1,438 The aged 10-14 years showed the largest number of 254 and the aged under one year was the smallest number of 81. Participation in examination Examination sessions usually were held in the morning every Tuesday, Wenesday, and Thursday for 3 hours at each session at the Namchun Health station. In general, the rate of participation in medical examination was low especially in ages between 10-19 years old. The highest rate of participation among are groups was the under one year age-group by 100 percent. The lowest use rate as low as 3% of those in the age-groups 10-19 years who are attending junior and senior high school in Taegu city so the time was not convenient for them to recieve examinations. Among the over 20 years old group, the rate of participation of female was higher than that of males. The results are as follows: A. Publie health problems Population: The number of pre-school age group who required child health was 724, among them infants numbered 96. Number of eligible women aged 15-44 years was 1,279, and women with husband who need maternal health numbered 700. The age-group of 65 years or older was 201 needed more health care and 65 of them had disabilities. (Table 2). Environmental sanitation: Seventy-nine percent of the residents relied upon well water as a primary source of dringking water. Ninety-three percent of the drinking water supply was rated as unfited quality for drinking. More than 90% of latrines were unhygienic, in structure design and sanitation (Table 15). Maternal and child health: Maternal health Average number of pregnancies of eligible women was 4 times. There was almost no pre- and post-natal care. Pregnancy wastage Still births was 33 per 1,000 live births. Spontaneous abortion was 156 per 1,000 live births. Induced abortion was 137 per 1,000 live births. Delivery condition More than 90 percent of deliveries were conducted at home. Attendants at last delivery were laymen by 76% and delivery without attendants was 14%. The rate of non-sterilized scissors as an instrument used to cut the umbilical cord was as high as 54% and of sickles was 14%. The rate of difficult delivery counted for 3%. Maternal death rate estimates about 35 per 10,000 live births. Child health Consultation rate for child health was almost non existant. In general, vaccination rate of children was low; vaccination rates for children aged 0-5 years with BCG and small pox were 34 and 28 percent respectively. The rate of vaccination with DPT and Polio were 23 and 25% respectively but the rate of the complete three injections were as low as 5 and 3% respectively. The number of dead children was 280 per 1,000 living children. Infants death rate was 45 per 1,000 live births (Table 16), Family planning: Approval rate of married women for family planning was as high as 86%. The rate of experiences of contraception in the past was 51%. The current rate of contraception was 37%. Willingness to use contraception in the future was as high as 86% (Table 17). Tuberculosis control: Number of registration patients at the health center currently was 25. The number indicates one eighth of estimate number of tuberculosis in the area. Number of discharged cases in the past accounted for 79 which showed 50% of active cases when discharged time. Rate of complete treatment among reasons of discharge in the past as low as 28%. There needs to be a follow up observation of the discharged cases (Table 18). Dental problems: More than 50% of the total population have at least one or more dental problems. (Table 19) B. Medical care problems Incidence rate: 1. In one month Incidence rate of medical care problems during one month was 19.6 percent. Among these health problems which required rest at home were 11.8 percent. The estimated number of patients in the total population is 1,206. The health problems reported most frequently in interviews during one month are: GI trouble, respiratory disease, neuralgia, skin disease, and communicable disease-in that order, The rate of health problems by age groups was highest in the 1-4 age group and in the 60 years or over age group, the lowest rate was the 10-14 year age group. In general, 0-29 year age group except the 1-4 year age group was low incidence rate. After 30 years old the rate of health problems increases gradually with aging. Eighty-three percent of health problems that occured during one month were solved by primary medical care procedures. Seventeen percent of health problems needed secondary care. Days rested at home because of illness during one month were 0.7 days per interviewee and 8days per patient and it accounts for 2,161 days for the total productive population in the area. (Table 20) 2. In a year The incidence rate of medical care problems during a year was 74.8%, among them health problems which required rest at home was 37 percent. Estimated number of patients in the total population during a year was 4,600. The health problems that occured most frequently among the interviewees during a year were: Cold (30%), GI trouble (18), respiratory disease (11), anemia (10), diarrhea (10), neuralgia (10), parasite disease (9), ENT (7), skin (7), headache (7), trauma (4), communicable disease (3), and circulatory disease (3) -in that order. The rate of health problems by age groups was highest in the infants group, thereafter the rate decreased gradually until the age 15-19 year age group which showed the lowest, and then the rate increased gradually with aging. Eighty-seven percent of health problems during a year were solved by primary medical care. Thirteen percent of them needed secondary medical care procedures. Days rested at home because of illness during a year were 16 days per interviewee and 44 days per patient and it accounted for 57,335 days lost among productive age group in the area (Table 21). Among those given medical examination, the conditions observed most frequently were respiratory disease, GI trouble, parasite disease, neuralgia, skin disease, trauma, tuberculosis, anemia, chronic obstructive lung disease, eye disorders-in that order (Table 22). The main health problems required secondary medical care are as fellows: (previous page). Utilization of medical care (treatment) The rate of treatment by various medical facilities for all health problems during one month was 73 percent. The rate of receiving of medical care of those who have health problems which required rest at home was 52% while the rate of those who have health problems which did not required rest was 61 percent (Table 23). The rate of receiving of medical care for all health problems during a year was 67 percent. The rate of receiving of medical care of those who have health problems which required rest at home was 82 percent while the rate of those who have health problems which did not required rest was as low as 53 percent (Table 24). Types of medical facilitied used were as follows: Hospital and clinics: 32-35% Herb clinics: 9-10% Drugstore: 53-58% Hospitalization Rate of hospitalization was 1.7% and the estimate number of hospitalizations among the total population during a year will be 107 persons (Table 25). Medical cost: Average medical cost per person during one month and a year were 171 and 2,800 won respectively. Average medical cost per patient during one month and a year were 1,109 and 3,740 won respectively. Average cost per household during a year was 15,800 won (Table 26, 27). Solution measures for health and medical care problems in rural area: A. Health problems which could be solved by paramedical workers such as nurses, midwives and aid nurses etc. are as follows: 1. Improvement of environmental sanitation 2. MCH except medical care problems 3. Family planning except surgical intervention 4. Tuberculosis control except diagnosis and prescription 5. Dental care except operational intervention 6. Health education for residents for improvement of utilization of medical facilities and early diagnosis etc. B. Medical care problems 1. Eighty-five percent of health problems could be solved by primary care procedures by general practitioners. 2. Fifteen percent of health problems need secondary medical procedures by a specialist. C. Medical cost Concidering the economic situation in rural area the amount of 2,062 won per residents during a year will be burdensome, so financial assistance is needed gorvernment to solve health and medical care problems for rural people.

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