Jo, Eun-Kyeong;Song, Chang-Hwa;Park, Jeong-Kyu;Baek, Young-Jong;Rhu, Hye-Young;Lee, Jae-Ho;Hwang, Tai-Ju;Kook, Hoon
Clinical and Experimental Pediatrics
/
v.45
no.2
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pp.183-191
/
2002
Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied the cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells from two siblings and one cousin with XLA, as well as additional family members. Methods : Btk protein expression was analyzed by flow cytometry. Isolation of the coding sequence of the Btk gene was performed by amplification using the reverse transcription-polymerase chain reaction(RT-PCR) technique. Sequence alterations were screened by the single-stranded conformation polymorphism(SSCP) method and characterized by standard sequencing protocols. Results : Cytoplasmic expression of Btk protein in monocytes was not detected in three patients with XLA. In addition, Btk protein analysis clearly showed cellular mosaicism in monocytes from four obligate carriers, findings further supported by SSCP. A single base pair mutation(T to C) in Btk-exon three, which encodes the PH domain, was identified in four XLA patients. A diagnostic sequencing analysis was established to detect heterozygotic pattern in 4 carrier females. Furthermore, we found significant clinical heterogeneity in individuals with the same gene mutation. Conclusion : The implicating genetic alteration provided valuable clues to the pathogenesis of XLA in Korea and the flow cytometric analysis was suggested as a useful tool for rapid detection of XLA patients and carriers. The present study has identified a genetic mutation in the Btk coding region and demonstrated heterogeneity in clinical manifestations among patients with the same mutation. A flow cytometric analysis was found to be informative in establishing a deficiency of Btk protein in both patients and carriers and is recommended as a frontline procedure in the molecular diagnosis and work-up of XLA.
Background: Airway hyperreponsiveness is a cardinal feature of asthma. It consists of both an increased sensitivity of the airways, as indicated by a smaller concentration of a constrictor agonist needed to initiate the brochoconstrictor response and an increased reactivity, increments in response induced subsequent doses of constrictor, as manifested by slopes of the dose-response curve. The purpose of this study is to observe the relationship between bronchial sensitivity and reactivity in asthmatic subjects. Method: Inhalation dose-response curves using methacholine were plotted in 56 asthmatic subjects. They were divided into three groups(mild, moderate and severe) according to clinical severity of bronchial asthma. PC20 were determined from the dose-response curve as the provocative concentration of the agonist causing a 20% fall in FEVl. PC40 were presumed or determined from the dose response curve, using the PC20 and the one more dose after PC20. Reactivity was calculated from the dose-response curve regression line, connecting PC20 with PC40. Results: PC20 were 1.83mg/ml in mild group, 0.96mg/ml in moderate, and 0.34mg/ml in severe. PC40 were 7.l7mg/ml in mild group, 2.34mg/ml in moderate, and 0.75mg/ml in severe. Reactivity were $24.7{\pm}17.06$ in mild group, $46.1{\pm}22.l0$ in moderate, and $59.0{\pm}5.82$ in severe. There was significant negative correlation between PC20 and reactivity (r= -0.70, P<0.01). Conclusion: Accordingly, there was significant negative correlation between bronchial sensitivity and brochial reactivity in asthmatic subjects. However, in some cases, there were wide variations in terms of the reactivity among the subjects who have similar sensitivity. So both should be assessed when the bronchial response tor bronchoconstrictor agonists is measured.
The purpose of this paper is to illustrate the nature of Objective Psyche based on island related case materials. Theoretical background starts with psychological meaning of islands, a kind affective symbol rather than cognitive image, and creation myths as the story of man's awareness of the world; Chaos as archaic identity (unconscious), islands as emergence of the ego from unconscious. In alchemical symbolism, island related to coagulatio, the operation which turns something into earth, the realm of ego. In addition, related parts of Hindu creation myths, Korean giant woman creator Sulmoonde-halmang, and legends of "Relocation of Island/Mountain" will be presented to integrate with case materials. Case A : Starts with a dream of killing a huge dragon and dead body became an island. The dragon in the water was seen as Spirit of Mercurius, the autonomous spirit, connecting of the ego with the Self. The act of killing related to Primeval being which needs to be killed to be transformed. Myths of Eskimo, The Eagle's Gift, the giant woman creator in Korea, and Marduk, the Babylonian hero will be integrated. Case B : Prior to introduce six island images in sand trays, a dream of a giant serpent (python) wound around her body will be presented to portray her situation. By relating Jung's "The Sermons to the Dead," her effort to make the solid island regarded as an act of bringing order out of original oneness (pleroma). Then stresses the importance to coagulate archetypal image Case C : A vignette of active imagination seminar where island image emerged will be described. Her endeavor of focusing on inner image related to the Hindu Creator, Cherokee creation myth, as well as Sulmoonde-halmang. As a motif of growing island, Samoan creation myth, and Legend of Mountain, Mai were incorporated. Colors in her art work regarded as expression of inner need, and importance of expressing inner feeling images as a mean to coagulate volatile emotional and spiritual content. Case D : A dream and art work of terminally ill woman; embracing the tip of the island with gushing up water will be presented. Her island and replenishing water image regard as "an immortal body," corresponds to the Philosophers' Stone for she accepted her death peacefully after the dream. Also related to "The Mercurial Fountain" in Rosarium Philosophorum, and aqua permanence, an allegory of God.
Purpose : Hyper IgM syndrome(HIGM) is characterized by severe recurrent bacterial infections with decreased serum levels of IgG, IgA, and IgE but elevated IgM levels. Recently, it has been classified into three groups; HIGM1, HIGM2 and a rare form of HIGM. HIGM1 is a X-linked form of HIGM and has now been identified as a T-cell deficiency in which mutations occur in the gene that encodes the CD40 ligand molecule. HIGM2 is an autosomal recessive form of HIGM. Molecular studies have shown that the mutation of HIGM2 is in the gene that encodes activation-induced cytidine deaminase(AID). Recently, another rare form of X-linked HIGM syndrome associated with hypohydrotic ectodermal dysplasia has been identified. We encountered a patient with a varient form of HIGM2. To clarify the cause of this form of HIGM, we evaluated the peripheral B cells of this patient. Methods : The lymphocytes of the patient were prepared from peripheral blood. B cells were immortalized with the infection of EBV. Cell cycle analysis was done with the immortalized B cells of the patient. Peripheral mononuclear cells were stained with monoclonal anti-CD40L antibody. Total RNA was extracted from the peripheral mononuclear cells. After RT-PCR, direct sequencing for CD40L gene and HuAID gene were done. Immunostainings of a lymph node for CD3, CD23, CD40, Fas-L, bcl-2, BAX were done. Results : The peripheral B cells of this patient showed normal expression of CD40L molecule and normal sequencing of CD40L gene, and also normal sequencing of AID gene. Interestingly, the peripheral B cells of this patient showed a decreased population of G2/mitosis phase in cell cycles which recovered to normal with the stimulation of IL-4. Conclusion : We suspect that the cause of increased serum IgM in this patient may be from a decrease of G2/mitosis phase of the peripheral B cells, which may be from the decreased production or secretion of IL-4. Therefore, this may be a new form of HIGM.
For women living with mental illness, motherhood may be a normalizing life experiences and offers the opportunity to develop competencies in a major life roles. So, the main premise of this study that social contexts, social support of spouse and extended family, is very important for successful parenting of mothers with mental illness. Thus this study analyzes the impact of marital relationship and social support of networks on three dimensions of parenting competency(expression of love, encouragement of independence, rational discipline) when the socioeconomic(age, number of offsprings, subjective economic level) and disability variables(diagnosis, severity of symptoms, chronicity, frequencies of psychiatric admission) are controlled. This study conducted the survey with 145 mothers with schizophrenia and mood disorder. The major finding of the study are : i) Using step-wise multiple regression, marital relationship, social supports and economic level affect significantly on the expression of love. ii) Using step-wise multiple regression, the most powerful influenced factor on encouragement of independence is marital relationship. iii) Using step-wise multiple regression, diagnosis, severity of symptoms, chronicity and economic level affect significantly on the rational discipline. That is two dimensions of parenting competency, expression of love and encouragement of independence, can be explained well by social contexts variables(marital relationship, social support, economic level). But only rational discipline can be explain well by disability factors. In conclusion, this study recommends service providers to use family based comprehensive case management for the mothers with mental illness.
Lee, Jung Chang;Yi, Ho Keun;Kim, Sun Young;Lee, Dae Yeol;Hwang, Pyoung Han;Park, Jin Woo
Clinical and Experimental Pediatrics
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v.46
no.7
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pp.679-686
/
2003
Purpose : Ataxia telangiectasia mutated(ATM) is involved in DNA damage responses at different cell cycle checkpoints, and signalling pathways associated with regulation of apoptosis in response to ionizing radiation(IR). However, the signaling pathway that underlies IR-induced apoptosis in ATM cells has remained unknown. The purpose of this study was, therefore, to investigate the apoptotic pathway that underlies IR-induced apoptosis in a CT-26 cells expressing dominant negative ATM (DN-ATM). Methods : We generated a replication-deficient recombinant adenovirus encoding the DN-ATM(Ad/DN-ATM) or control adenovirus encoding no transgene(Ad/GFP) and infected adenovirus to CT-26 cells. After infection, we examined apoptosis and apoptotic pathway by [$^3H$]-thymidine assay, DNA fragmentation, and Western immunoblot analysis. Results : DN-ATM gene served as the creation of AT phenotype in a CT-26 cells as revealed by decreased cell proliferations following IR. In addition, IR-induced apoptosis was regulated through the reduced levels of the anti-apoptotic protein Bcl-2, the increased levels of the apoptotic protein Bax, and the activation of caspase-9, caspase-3, and PARP. Conclusion : These results indicate that the pathway of IR-induced apoptosis in CT-26 cells expressing DN-ATM is mediated by mitochondrial signaling pathway involving the activation of caspase 9, caspase 3, and PARP.
In this paper, we propose an automatic segmentation of the prostate using intensity distribution and gradient information in MR images. First, active shape model using adaptive intensity profile and multi-resolution technique is used to extract the prostate surface. Second, hole elimination using geometric information is performed to prevent the hole from occurring by converging the surface shape to the local optima. Third, the surface shape with large anatomical variation is corrected by using 2D gradient information. In this case, the corrected surface shape is often represented as rugged shape which is generated by the limited number of vertices. Thus, it is reconstructed by using surface modelling and smoothing. To evaluate our method, we performed the visual inspection, accuracy measures and processing time. For accuracy evaluation, the average distance difference and the overlapping volume ratio between automatic segmentation and manual segmentation by two radiologists are calculated. Experimental results show that the average distance difference was 0.3${\pm}$0.21mm and the overlapping volume ratio was 96.31${\pm}$2.71%. The total processing time of twenty patient data was 16 seconds on average.
According to development of weather radar, researches about observation, analysis or forecast of weather phenomena such as tornado, flash-flood etc. were encouraged by reducing frequency interferences, transmission noises, attenuations of radar signal. In contrast, there is a growing interest in the visualization and expression methods for weather radar data but weather radar manufacturers or the organs of government for weather are just busy interpreting expressed weather images projected on GIS. We propose an effective high definition weather radar information visualization method able to apply various GIS platforms to observe and take actions against rapid local weather changes effectively. In this paper, first we change information acquired from weather radar to raster or vector type high definition data structures using specific algorithms. And then, we quadrate our processed raster/vector type weather data with various GIS platforms accurately to make observers can recognize and check weather situations over exact geographical positions and elevations intuitively. Experimental results verify that our method make observers can recognize and analyze weather changes, tornados, local downpours or flash floods accurately by analyzing high definition weather radar data combined with GIS platform including detailed target locations and elevations.
Headache is a symptom with varied etiologies and extraordinarily frequent. Headaches can be a symptom of another diseases, such as meningitis, subarachnoid hemorrhage or brain tumor, may represent the disease entity itself as the case in migraine. The international Headache Society criteria were the first to distinguish between primary and secondary headache disorders. When evaluating a patient who presents with headache, the physician abviously needs to identify or exclude the myriad conditions that can cause secondary headache and initial diagnostic workup should be considered. If patient meets the criteria for a primary headache disorder, treatment commonly initiated without additional neurodiagnostic tests. The headache type, its associated feature, and the duration and the intensity of the pain attack all can influence the choice of acute therapy in migraine. Pharmacologically, such as NSAIDs, combination analgesics, vasoactive antimigraineous drugs, neuroleptics, antidepressants, or corticosteroids. Other approches to managing headache include a headache diary to identify triggers, biofeedback, relaxation technique and behavioral modification. Daily preventive medication should be considered by his attack frequency and intensity, and maintained for 4 to 6 months. Tension-type headaches are distinguished between episodic and chronic tension-type headache, but physician must make sure that patient is not drug-overuse or independent during symptomatic abortive therapy or preventive medication. The most difficult headache patients to treat are those with chronic daily headache. They often have physical dependency, low frustration tolerance, sleep problems, and depression. So discontinuation of overused medication is crucial. New developments in migraine therapy are broadening the scope of abortive and prophylactic treatment choices available to the physician. The enhanced ease of the use of sumatriptan and DHE will likely increase patient compliance and satisfaction.
To enhance the user response time of content-based retrieval service for multimedia information, several multi-dimensional index schemes have been proposed. M-tree, a well-known multidimensional index scheme is of metric space access method, and is based on the distance between objects in the metric space. However, since the overlap between index spaces of nodes might enlarge the number of nodes of M-tree accessed for query processing, the user response time for content-based multimedia information retrieval grows longer. In this paper, we propose a node split algorithm which is able to reduce the sire of overlap between index spaces of nodes in M-tree. In the proposed scheme, we choose a virtual center point as the routing object and entry redistribution as the postprocessing after node split in order to reduce the radius of index space of a node, and finally in order to reduce the overlap between the index spaces of routing nodes. From the experimental results, we can see the proposed split algorithm reduce the overlap between index space of nodes and finally enhance the user response time for similarity-based query processing.
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