• Title/Summary/Keyword: defect type

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Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs) (한국 뮤코 다당체 침착증 환자에 대한 임상적 고찰)

  • Sohn, Woo Yun;Lee, Jee Hyun;Paik, Kyung Hoon;Kwon, Eun Kyoung;Kim, Ahn Hee;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
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    • v.48 no.10
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    • pp.1132-1138
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    • 2005
  • Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.

The embryological studies on the interspecific hybrid of ginseng plant (Panax ginseng x P. Quiuquefolium) with special references to the seed abortion (인삼의 종간잡종 Panax ginseng x P Quinquefoilium의 발생학적 연구 특히 결실불능의 원인에 관하여)

  • Jong-Kyu Hwang
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.5 no.1
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    • pp.69-86
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    • 1969
  • On the growing of the interspecific hybrid ginseng plant, the phenomena of hybrid vigoures are observed in the root, stem, and leaf, but it can not produce seeds favorably since the ovary is abortive in most cases in interspecific hybrid plants. The present investigation was undertaken in an attempt to elucidate the embryological dses of the seed failure in the interspecific hybrid of ginseng (Panax Ginseng ${\times}$ P. Quinque folium). And the results obtained may be summarized as follows. 1). The vegetative growth of the interspecific hybrid ginseng plant is normal or rather vigorous, but the generative growth is extremely obstructed. 2). Even though the generative growth is interrupted the normal development of ovary tissue of flower can be shown until the stage prior to meiosis. 3). The division of the male gameto-genetic cell and the female gameto-genetic cell are exceedingly irregular and some of them are constricted prior to meiosis. 4). At meiosis in the microspore mother cell of the interspecific hybrid, abnormal division is observed in that the univalent chromosome and chromosome bridge occure. And in most cases, metaphasic configuration is principally presented as 23 II+2I, though rarely 22II+4I is also found. 5). Through the process of microspore and pollen formation of F1, the various developmental phases occur even in an anther loclus. 6). Macro, micro and empty pollen grains occur and the functional pollen is very rare. 7). After the megaspore mother cell stage, the rate of ovule development is, on the whole, delayed but the ovary wall enlargement is nearly normal. 8). Degenerating phenomena of ovules occur from the megaspore mother cell stage to 8-nucleate embryo sac stage, and their beginning time of constricting shape is variously different. 9). The megaspore arrangement in the parent is principally of the linear type, though rarely the intermediate type is also observed, whereas various types, viz, linear, intermediate, Tshape, and I shape can be observed in hybrid. 10). After meiosis, three or five megaspore are some times counted. 11). Charazal end megaspore is generally functional in the parents, whereas, in F1, very rarely one of the center megaspores (the second of the third megaspore) grows as an embryo sac mother cell. 12). In accordance with the extent of irregularity or abnormality in meiosis, division of embryo sac nuclei and embryo sac formation cause more nucellus tissue to remain within th, embryo sac. 13). Even if one reached the stage of embryo sac formation, the embryo sac nuclei are always precarious and they can not be disposed to theil proper, respective position. 14). Within the embryo sac, which is lacking the endospermcell, the 4-celled proembryo, linear arrangement, is observed. 15). Through the above respects, the cause of sterile or seed failure of interspecific hybrid would be presumably as follows, By interspecific crossing gene reassortments takes place and the gene system influences the metabolism by the interference of certain enzyme as media. In the F1 plant, the quantity and quality of chemicals produced by the enzyme system and reaction system are entirely different from the case of the parents. Generally, in order to grow, form, and develop naw parts it is necessary to change the materials and energy with reasonable balance, whereas in the F1 plant the metabolic process becomes abnormal or irregular because of the breakdown of the balancing. Thus the changing of the gene-reaction system causes the alteration of the environmental condition of the gameto-genetic cells in the anther and ovule; the produced chemicals cause changes of oxidatio-reduction potential, PH value, protein denaturation and the polarity, etc. Then, the abnormal tissue growing in the ovule and emdryo sac, inhibition of normal development and storage of some chemicals, especially inhibitor, finally lead to sterility or seed failure. Inconclusion, we may presume that the first cause of sterile or seed abortion in interspecific hybrids is the gene reassortment, and the second is the irregularity of the metabolic system, storage of chemicals, especially inhibitor, the growth of abnormal tissue and the change of the polarity etc, and they finally lead to sexual defect, sterility and seed failure.

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Transport Properties of Aromatic Amino Acids by Amino Acid Transporter TAT1 (아미노산 수송체 TAT1에 의한 방향족 아미노산의 수송특성)

  • 김윤배;김명수;윤정훈;박주철;국중기;정해만;최봉규;정규용;김종근
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.31 no.5
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    • pp.775-781
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    • 2002
  • The T-type amino acid transporter 1 (TATI) is a Na$^{+}$-independent amino acid transporter which selectively trans- ports aromatic amino acids subserving the amino acid transport system T. To understand the transport properties of aromatic amino acids by human TAT1 (hTATl ), we have examined the hTATl -mediated aromatic amino acid transports using a Xenopus laeuis oocyte expression system. When expressed in Xenopin laeuis oocytes, hTATl induced L- [$^{14}$ C]tryptophan transport which was not dependent on Na$^{+}$ or Cl$^{[-10]}$ in the medium. Uptake was time-dependent and exhibited a linear dependence on incubation time up to 30 min. The L- ($^{14}$ C)tryptophan uptake was highly inhibited by L-isomers of tryptophan, tyrosine and phenylalanine, whereas other L-amino acids did not inhibit hTATl -mediated L- ($^{14}$ C)tryptophan uptake. The hTATl induced the relatively low-affinity transport of aromatic amino acids such as L- ($^{14}$ C)tryptophan, L- ($^{14}$ C)tyrosine and L- ($^{14}$ C)phenylalanine (Km values: 450~750 $\mu$M), consistent with the properties of classical amino acid transport system T. The L- ($^{14}$ C)tryptophan uptake did not show any remarkable pH dependence within the pH range of 5.5 to 8.5. The time-dependent efflux of L- ($^{14}$ C)tryptophan was detected from the oocytes expressing hTATl, which was not affected by the presence or absence of L-tryptophan in the extracellular medium, indicating that hTATl-mediated transport is due to the facilitated diffusion. Expression of hTATl in Xenopu laevis oocytes induced the transport of tryptophan, tyrosine and phenylalanine, indicating that hTATl is a transporter subserving system T These results suggest that hTATl has essential roles in the absorption of aromatic amino acids from epithelial cells to the blood stream. Hecause hTATl is proposed to be crucial to the efficient absorption of aromatic amino acids from intestine and kidney, its defect such as blue diaper syndrome could be involved in the disruption of aromatic amino acid transport.ort.

Microtubule-damaging Chemotherapeutic Agent-mediated Mitotic Arrest and Apoptosis Induction in Tumor Cells (미세소관-손상 항암제 처리에 의한 세포주기의 정지 및 에폽토시스 유도)

  • Jun, Do Youn;Kim, Young Ho
    • Journal of Life Science
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    • v.26 no.3
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    • pp.376-386
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    • 2016
  • Apoptosis induction has been proposed as an efficient mechanism by which malignant tumor cells can be removed following chemotherapy. The intrinsic mitochondria-dependent apoptotic pathway is frequently implicated in chemotherapy-induced tumor cell apoptosis. Since DNA-damaging agent (DDA)-induced apoptosis is mainly regulated by the tumor suppressor protein p53, and since more than half of clinical cancers possess inactive p53 mutants, microtubule-damaging agents (MDAs), of which apoptotic effect is mainly exerted via p53-independent routes, can be promising choice for cancer chemotherapy. Recently, we found that the apoptotic signaling pathway induced by MDAs (nocodazole, 17α-estradiol, or 2-methoxyestradiol) commonly proceeded through mitotic spindle defect-mediated prometaphase arrest, prolonged Cdk1 activation, and subsequent phosphorylation of Bcl-2, Mcl-1, and Bim in human acute leukemia Jurkat T cells. These microtubule damage-mediated alterations could render the cellular context susceptible to the onset of mitochondria-dependent apoptosis by triggering Bak activation, Δψm loss, and resultant caspase cascade activation. In contrast, when the MDA-induced Bak activation was inhibited by overexpression of anti-apoptotic Bcl-2 family proteins (Bcl-2 or Bcl-xL), the cells in prometaphase arrest failed to induce apoptosis, and instead underwent mitotic slippage and endoreduplication cycle, leading to formation of populations with 8N and 16N DNA content. These data indicate that cellular apoptogenic mechanism is critical for preventing polyploid formation following MDA treatment. Since the formation of polyploid cells, which are genetically unstable, may cause acquisition of therapy resistance and disease relapse, there is a growing interest in developing new combination chemotherapies to prevent polyploidization in tumors after MDA treatment.

Analysis of Vasopressin Receptor Type 2(AVPR2) Gene in a Pedigree with Congenital Nehrogenic Diabetes Insipidus : Identification of a Family with R202C Mutation in AVPR2 Gene (신성요붕증 가계에서 바소프레신 V2 수용체(AVPR2) 유전자 분석 : AVPR2 유전자 R202C 돌연변이의 발견)

  • Park June-Dong;Kim Ho-Sung;Kim Hee-Joo;Lee Yoon-Kyung;Kwak Young-Ho;Ha Il-Soo;Cheong Hae-Il;Choi Yong;Park Hye-Won
    • Childhood Kidney Diseases
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    • v.3 no.2
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    • pp.209-216
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    • 1999
  • Purpose : Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder associated with renal tubule resistance to arginine vasopressin (AVP). The hypothesis that the defect underlying NDI might be a dysfunctional renal AVPR2 has recently been proven by the identification of mutations in the AVPR2 gene in NDT patients. To investigate the association of mutations in th AVPR2 gene with NDI, we analyzed the AVPR2 gene located on the X chromosome. Methods : We have analyzed the AVPR2 gene in a kindred with X-linked NDI. The proband and proband's mother were analyzed by polymerase chain reaction-single strand conformational polymorphism(PCR-SSCP) and DNA sequencing of the AVPR2 gene. We also have used restriction enzyme analysis of genomic PCR product to evaluate the AVPR2 gene. Results : C to T transition at codon 202, predictive of an exchange of tryptophan 202 by cysteine(R202C) in the third extracellular domain was identified. This mutation causes a loss of Hae III site within the gene. Conclusion : We found a R202C missense mutation in the AVPR2 gene causing X-linked NDI, and now direct mutational analysis is available for carrier screening and early diagnosis.

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Vasopressin in Young Patients with Congenital Heart Defects for Postoperative Vasodilatory Shock (선천성 심장병 수술 후 발생한 혈관확장성 쇼크에 대한 바소프레신의 치료)

  • 황여주;안영찬;전양빈;이재웅;박철현;박국양;한미영;이창하
    • Journal of Chest Surgery
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    • v.37 no.6
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    • pp.504-510
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    • 2004
  • Background: Vasodilatory shock after cardiac surgery may result from the vasopressin deficiency following cardio-pulmonary bypass and sepsis, which did not respond to usual intravenous inotropes. In contrast to the adult patients, the effectiveness of vasopressin for vasodilatory shock in children has not been known well and so we reviewed our experience of vasopressin therapy in the small babies with a cardiac disease. Material and Method: Between February and August 2003, intravenous vasopressin was administrated in 6 patients for vasodilatory shock despite being supported on intravenous inotropes after cardiac surgery. Median age at operation was 25 days old (ranges; 2∼41 days) and median body weight was 2,870 grams (ranges; 900∼3,530 grams). Preoperative diag-noses were complete transposition of the great arteries in 2 patients, hypoplastic left heart syndrome in 1, Fallot type double-outlet right ventricle in 1, aortic coarctation with severe atrioventricular valve regurgitation in 1, and total anomalous pulmonary venous return in 1. Total repair and palliative repair were undertaken in each 3 patient. Result: Most patients showed vasodilatory shock not responding to the inotropes and required the vasopressin therapy within 24 hours after cardiac surgery and its readministration for septic shock. The dosing range for vasopressin was 0.0002∼0.008 unit/kg/minute with a median total time of its administration of 59 hours (ranges; 26∼140 hours). Systolic blood pressure before, 1 hour, and 6 hours after its administration were 42.7$\pm$7.4 mmHg, 53.7$\pm$11.4 mmHg, and 56.3$\pm$13.4 mmHg, respectively, which shows a significant increase in systolic blood pressure (systolic pressure 1hour and 6 hours after the administration compared to before the administration; p=0.042 in all). Inotropic indexes before, 6 hour, and 12 hours after its administration were 32.3$\pm$7.2, 21.0$\pm$8.4, and 21.2$\pm$8.9, respectively, which reveals a significant decrease in inotropic index (inotropic indexes 6 hour and 12 hours after the administration compared to before the administration; p=0.027 in all). Significant metabolic acidosis and decreased urine output related to systemic hypoperfusion were not found after vasopressin admin- istration. Conclusion: In young children suffering from vasodilatory shock not responding to common inotropes despite normal ventricular contractility, intravenous vasopressin reveals to be an effective vasoconstrictor to increase systolic blood pressure and to mitigate the complications related to higher doses of inotropes.

Clinical Study of the Treatment of Chronic Empyema with Open Window Thoracostomy: 10 Years Experience (개방식 배농술을 이용한 만성 농흉 치료의 임상적 고찰 - 10년 경험 -)

  • Kim, Young-Kyu;Kim, Yeong-Dae
    • Journal of Chest Surgery
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    • v.40 no.11
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    • pp.765-769
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    • 2007
  • Background: The curative treatment of choice for empyema is decortication of the pleura. The risks of this treatment however are increased for the patient with reduced pulmonary function, complicated calcification or septic shock. In the past, open window thoracostomy was a final stage treatment for chronic empyema. Relatively safe treatment of empyema could be achieved in difficult cases with a closure of the open window after open drainage and use of a myocutaneous flap (one stage or staged). Material and Method: A retrospective study of the cause, progression and final outcome of empyema patients who received open window thoracostomy was performed. 21 patients were followed from 1995 to 2004 in the department of Thoracic and Cardiovascular Surgery in the College of Medicine, Pusan National University. Result: The average age of the patients was $57.5{\pm}15.5$ years (range $25{\sim}78$ years), of whom 16 (76.2%) were men and five (23.8%) were women. Pulmonary function test results showed an average FEV1 of $1.58{\pm}0.49 L$. The type of empyema was tuberculous empyema in 13 cases (61.9%), aspergillosis in three cases (14.3%), parapneumonic empyema in three cases (14.3%) and post-resectional empyema in two cases (10%). Bronchopulmonary fistula was seen in 14 cases. Eight cases were complicated by severe calcification of the pleura. For the four cases of bronchopulmonary fistula, the patients' serratus anterior muscle was covered in their first operation. The average number of ribs resected was $4{\pm}1$. Closure of the open window thoracostomy was performed in 12 cases. The average time to closure after open drainage was $10.22{\pm}3.11$ months and the average defect of the empyemal cavity before the final operation was $330{\pm}110 cc$. Among the 12 cases, there were two cases of spontaneous closure. In two cases closure was only achieved by using the reserved skin fold during the first surgery. Of the remaining eight cases, in seven we used the myocutaneous flap (four cases of lattisimus dorsi muscle and three cases of pectoralis major muscle), and in one case we used soft tissue. As regards complications of the closure, tissue necrosis occurred in one case, which led to failed closure, and there was one case of abdominal hernia in the rectus abdominis muscle flap. One patient died within 30 days of the surgery and one patient died of metastatic cancer. Conclusion: A staged operation with a final closure using open window thoracostomy, which consists of open drainage, transposition of the muscle and a myocutaneous flap, can be a safe and effective option for the chronic empyema patient who is difficult to cure with traditional surgical methods.

Clinical features and surgical results of ruptured sinus of valsalva aneurysm (발살바동 동맥류 파열의 임상적 고찰)

  • Lee, Tae Ho;Lee, Dong Won;Cho, Joon Yong;Hyun, Myung Chul;Lee, Sang Bum
    • Clinical and Experimental Pediatrics
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    • v.49 no.3
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    • pp.287-291
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    • 2006
  • Purpose : Aneurysms of sinus valsalva are rare anormalies thought to be primarily congenital in origin, progressing into death by acute heart failure in cases of rupture. Surgical correction is the only method of treatment. With these clinical implications, we reviewed the clinical characteristics and surgical results of patients with ruptured sinus of valsalva aneurysm. Methods : Between January 1991 and February 2004, 17 patients with ruptured sinus of valsalva aneurysm were retrospectively reviewed for their clinical symptoms, physical findings, past history, coexistent cardiac anormalies, surgical results, and mid-term prognosis. Results : The 17 patients included 13 men and four women, with a mean age of 30 years(10-59 years). Preoperatively accompanying cardiac anormalies were ventricular septal defect(VSD, eight cases of doubly committed juxta-arterial VSD) and aortic insufficiency(11 cases). During operations, patterns of fistulous tracts were found to be right colonary sinus-right ventricle in 13 patients, right coronary sinus-right atrium in one, noncoronary sinus - right ventricle in two, noncoronary sinus - right atrium in one, and VSD was noticed in 14 patients(all were doubly committed juxta-arterial in type). The defects were closed with a patch in 13 patients, without a patch in four, with concommitant aortic valve replacement in four and with aortic valvuloplasty in two. There were no mortalities during operations or the mid-term follow-up periods($40{\pm}49$ months). Conclusion : Because, at least in Orientals, VSD(especially doubly committed juxta-arterial) was accompanied in large numbers of patients with aneurysms of sinus valsalva, preoperative evaluations of this congenital heart disease should be made very careful. And we may need to revise the algorithm of treatment policy in small sized doubly committed juxta-arterial VSD.

Avascular Necrosis of Femoral Head on Bone Scan (대퇴골두 무혈성 괴사의 뼈스캔상의 병기)

  • Yang, Hyung-In;Kim, Eui-Jong;Kim, Deog-Yoon;Ryu, Kyung-Nam;Cho, Kyung-Sam
    • The Korean Journal of Nuclear Medicine
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    • v.28 no.2
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    • pp.206-213
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    • 1994
  • We studied 90 patients(179 femoral heads) with avascular necrosis of femoral head, who had been performed X-ray, bone scan and MRI to compare of the findings of AVN on bone scan between each other, retrospectively. The patients were 82 males and 9 females, their mean age was 45 years. Radiographic stages were classified by Steinberg modification, radionuclide stages were classified as followed; stage o(or type 0) : normal, stage 1 : faint ring like uptake around the femoral head, stage 2: intense ring like uptake, stage 3: irregular increased uptake with central photon defect, stage 4 : Intense diffuse increased uptake at femoral head and stage 5 : hip joint deformity with relatively mild increased uptake. The findings of MRI were classified according to extent, location, early or advanced lesion, signal intensity of the lesion and joint effusion. 156(87%) of 179 femoral heads had avascular necrosis, 68(75.5%) of 90 patients had bilateral AVN, 35 femoral heads had early stage and 120 had advanced stage. The detection rate of AVN by X-ray and bone scan were 85% (134), 91.6% (143), respectively. Early AVN with atypical types of bone scan showed larger extent, moderate to large amount of joint effusion, soft tissue hypertrophy within joint, and secondary degenerative changes. Bone scan had relatively high detection rate in the diagnosis of AVN of femoral head, and demonstrated various types depending on the disease stage.

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Intraoperative Measurement and Analysis of Coronary Artery Bypass Graft Flow (수술중 측정한 관상동맥 우회도관 혈류량의 분석)

  • Park, Kye-Hyun;Chae, Hurn;Yun, Yang-Ku;Lee, Jae-Woong;Kim, Kwhan-Mien;Jun, Tae-Gook;Kim, Jhin-Gook;Shim, Young-Mog;Park, Pyo-Won
    • Journal of Chest Surgery
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    • v.30 no.8
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    • pp.760-769
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    • 1997
  • This study aimed to determine factors that influence blood flow through coronary bypass grafts and to analyze relationship between the graft flow and postoperative outcome. Blood flow through 146 bypass grafts(GBF) was measured with transit-time ultrasound flowmeter during coronary artery bypass grafting operations in 50 patients. Single and multiple regression analyses were done for relationships between the GBF and four variables: internal diameter of recipient coronary artery, myocardial value of bypassed branch(es), type of graft, and finding of preoperative myocardial perfusion scan. The relationship between GBF and postoperative scan finding was also analyzed. 1. The mean GBF was significantly higher in sequential grafts than in single vein grafts or in internal thoracic artery grafts(61.5 vs. 46.9 and 42.5 ml/min). 2. Myocardial value and recipient artery diameter were found to be the factors determining GBF. There was no correlation between GHF and presence of perfusion defect in the preoperative scan. 3. Myocardial value was found to be more important than recipient artery diameter in determinintg GBF. 4. Reversible perfusion defects were more frequently found in the areas upplied by grafts with low GBP. But this fact had only mild statistical significance. These results suggest that blood flow through a bypass graft is more determined by the size of its supplyinf: myocardium than by the size of recipient artery. So, we can expect effective improvement in myocardial flow reserve after grafting of small(1~1.5mm) coronary arteries, if they supply substantial area of myocardium.

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