• Asian Pacific Journal of Cancer Prevention
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• 제14권8호
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• pp.4739-4742
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• 2013

Carboplatin, a second generation platinum drug, is widely used to treat different types of cancers. However, myelosuppression remains a major consideration in its use. Genetic polymorphisms of enzymes involved in drug disposition can influence therapeutic outcome. The homozygous null deletion of phase II metabolic gene GSTT1 that abolishes its xenobiotic- detoxifying ability may be associated with carboplatin toxicity. Further, since carboplatin generates oxidative stress, polymorphisms of oxidative stress genes that regulate the cellular level of free radicals may have important roles in generating drug- related adverse effects. We here investigated the null polymorphism of GSTT1, and the -463G>A promoter polymorphism of oxidative stress gene myeloperoxidase (MPO) for carboplatin toxicity in a population of northern India. Cancer patients who were treated with carboplatin, and developed toxicity was considered. The study group comprised of 10 patients who developed therapy- related adverse effects. Peripheral blood was taken from patients for DNA isolation. GSTT1 null genotype was determined by conducting duplex PCR and MPO-463 G>A was determined by PCR followed by RFLP. Hematologic toxicity was experienced by 5 patients, 2 of them had grade 3 and 4 toxicity and 3 others had grade 2 toxicity. They also had gastrointestinal (GI) toxicity. Remaining 5 individuals developed GI toxicity but no hematological toxicity. While GG homozygous of MPO was present in majority of patients having hematologic toxicity (in 4 out of 5 individuals), one A allele (AG genotype) was present in 4 patients who did not have any hematological toxicity. Thus variant A allele of MPO -463G>A may be related to lower hematological toxicity. These preliminary data, however, are required to be confirmed in larger studies along with other relevant polymorphisms.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제26권2호
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• pp.219-223
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• 2000

Behcet's disease is a chronic, multisystemic disorder which is more frequently seen in the Mediterranean basin, Middle East, and Far East. The mean age at the first onset is third decades. In large series of patients, men predominate over women. Infectious agents, immune mechanisms, and genetic factors are implicated in the etiopathogenesis of the disease. Eyes, skin, joints, the oral cavity, blood vessels, and central nervous system are usually involved, although less frequently the heart, lung, kidney may be affected. The prognosis of the disease has been improved because of early diagnosis and suitable treatment. Local remedies and systemic administration of colchicine, corticosteoids, immunosuppressives, and other agents have been applied. Pathergy, or skin hypersensitivity to needle puncture has been reported as a diagnostic test for Behcet's disease. We have managed a Behcet's disease patient with pathergy test & corticosteroids therapy. We have obtained good result and report this case with review of literatures.

• The Korean Journal of Physiology and Pharmacology
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• 제18권2호
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• pp.109-120
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• 2014

The epothilones are a class of microtubule inhibitors that exhibit a strong antitumor activity. UTD2 is a novel epothilone analog generated by genetic manipulation of the polyketide biosynthetic gene cluster. This study investigated the effects of UTD2 on the actin cytoskeleton and its critical regulators, and the signaling pathways which are essential for cell motility, growth and survival in MCF-7 breast cancer cells. Results showed that UTD2 inhibited the cellular functions of actin cytoskeleton, such as wound-closure, migration and invasion, as well as adhesion. Our study further demonstrated that UTD2 suppressed Rac1 GTPase activation and reduced the activity of PAK1, which is a downstream effector of Rac1, while the activity of Cdc42 was not affected. Additionally, the phosphorylation of p38 and ERK were significantly inhibited, but the phosphorylation of JNK remained the same after UTD2 treatment. Moreover, UTD2 inhibited the activity and mRNA expression of MMP-2, which plays a key role in cell motility. UTD2 also reduced the phosphorylation of Akt, which is an important signaling kinase regulating the cell survival through Rac1. Furthermore, UTD2 interrupted the synergy between Rac1 and Raf in focus formation assays. Taken together, these results indicated that UTD2 exerted multiple effects on the actin cytoskeleton and signaling pathways associated with Rac1. This study provided novel insights into the molecular mechanism of the antineoplastic and antimetastatic activities of epothilones. Our findings also suggest that the signaling pathways regulated by Rac1 may be evaluated as biomarkers for the response to therapy in clinical trials of epothilones.

• Childhood Kidney Diseases
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• 제7권1호
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• pp.86-90
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• 2003

저자들은 출생시부터 지속된 육안적 오렌지색소변 결정체를 주소로 내원한 8개월된 남아에서 HPRT 유전자의 돌연변이에 의한 HPRT 부분결핍증 1례를 경험하였기에 이를 문헌고찰과 함께 보고한다.

• 대한한의학방제학회지
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• 제18권2호
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• pp.267-277
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• 2010

Objective : Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS) syndrome is a progressive neurodegenerative disorder. The typical presentation of patients with MELAS syndrome includes features such as mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes. Other features, such as seizures, diabetes mellitus, hearing loss, cardiac disease, short stature, endocrinopathies, exercise intolerance, and neuropsychiatric dysfunction are clearly part of the disorder. Approximately 80% of patients with the clinical characteristics of MELAS syndrome have a genetic mutation. This progressive disorder is reported to have a high morbidity and mortality. This case report is intended to estimate clinical effects of oriental meedicinal treatment of MELAS syndrome. Methods : A 44 year old female patient diagnosed as MELSA syndrome was treated with general oriental medicinal therapy including acupuncture, moxibustion, cupping, pharmacupunture and herbal medication in 20XX in Wonkwang Medical Center Gwangju. And the changes in symptoms and signs were evaluated as time dependently. Results : Although there is currently no curable treatment and MEALS syndrome is tend to progress, our treatment showed improvement in general weakness, gait disturbance and pain in the patient. Conclusion : Our case report suggests that various oriental medicinal treatment could be effective for improvement of MELAS syndrome and may represent a new potential therapeutic approach to control the disease. It could be applied to improve general condition, prevent relapse, enhance the quality of life and reduce complaints in the patient.

• Tuberculosis and Respiratory Diseases
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• 제64권6호
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• pp.466-470
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• 2008

저자들은 저자들은 폐색전증이 발생한 환자에서 기저질환을 조사하던 중 Factor VII 활성도 저하를 관찰하였고, 이 환자에게서 Factor VII 유전자의 프로모터 -401의 단염기 치환($G{\rightarrow}A$)을 발견하여 보고하며, 국내에도 Factor VII 유전자 다형성이 존재함을 밝히며, Factor VII 활성도 감소와 폐색전증이 동반된 환자를 보고하는 바이다.

• Journal of Ginseng Research
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• 제41권2호
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• pp.120-126
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• 2017

Background: The present study investigated the effect of ginseng berry hot water extract (GBx) on blood flow via the regulation of lipid metabolites and blood coagulation in rats fed a high-fat diet (HFD). Methods: Sixty rats were divided into five groups in descending order of body weight. Except for the control group, the other four groups were fed a HFD containing 45% kcal from fat for 11 wk without GBx. GBx groups were then additionally treated by gastric gavage with GBx dissolved in distilled water at 50 (GBx 50) mg/kg, 100 (GBx 100) mg/kg, or 150 (GBx 150) mg/kg body weight for 6 wk along with the HFD. To investigate the effects of GBx on rats fed a HFD, biochemical metabolite, blood coagulation assay, and histological analysis were performed. Results: In the experiments to measure the serum levels of leptin and apolipoprotein B/A, GBx treatment attenuated the HFD-induced increases in these metabolites (p < 0.05). Adiponectin and apolipoprotein E levels in GBx-treated groups were significantly higher than the HFD group. Prothrombin time and activated partial thromboplastin time were increased in all GBx-treated groups. In the GBx-treated groups, the serum levels of thromboxane $A_2$ and serotonin were decreased and concentrations of serum fibrinogen degradation products were increased (p < 0.05). Moreover, histomorphometric dyslipidemia-related atherosclerotic changes were significantly improved by treatment with GBx. Conclusion: These results suggest the possibility that GBx can ameliorate blood flow by decreasing intima-media thickness via the regulation of blood coagulation factors related to lipid metabolites in rats fed a HFD.

• Journal of Genetic Medicine
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• 제7권1호
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• pp.87-90
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• 2010

신생아 시기의 고암모니아혈증은 고암모니아성 뇌병증에 의하여 심각한 뇌기능의 장애를 일으킬 수 있다. 이 중 신생아 일과성 고암모니아혈증 (transient hyperammonemia of newborn, THAN)은 신생아 시기에만 일시적으로 고암모니아 혈증을 보이고, 신생아시기에 적절한 진단과 치료를 통해 양호한 예후를 보이는 질환이다. 그러나 일부에서는 고도의 고암모니아 혈증을 보여 이에 대한 응급치료를 요하기도 한다. 본 증례 보고에서는 신생아 시기에 고암모니아혈증이 발견되어, 신대치요법과 약물치료 후호 전된 1례를 기술하고자 한다. 환아는 이후 생후9개월까지 정상 식이와 약물치료 없이 정상발달을 보이며, 고암모니아혈증의 재발이 없었다.

• 한국임상수의학회지
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• 제24권2호
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• pp.288-291
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• 2007

Hypospadias is a malformation in which the urethra open on the ventral side of the penis and its frequency is about from 0.3% to 0.5% male birth in human. It is considered a disorder both genetic and environmental factors involves in pathogenesis. A KNC(Korean native calf) showing symptoms of fusion defect of the male ventral urethra, penile defect, bifid scrotum and low body weigh was born. To prevent an ascending urinary tract infection, dermatitis and loss of hair, surgical operation was performed to make a genitals like a female. After the operation, the KNC got a regenerative hair and normal urination. However the KNC became anorexia, loss in weight and weak. Seventy days after birth, the KNC died. The view of autopsy was a yellowish hepatomegaly, hydronephrosis, closed ureter and complex disorder in interanl organ. The symptoms of hepatomegaly and hydronephrosis could be due to a fluid therapy as a consequence of ureter obstruction. The normal urination of the KNC before it got sick, suggested that ureter obstruction in the case of this KNC was formed at its postnatal growth stage.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권4호
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• pp.216-221
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• 2017

Purpose: To analyze presence of Helicobacter pylori infection and environmental risk factors among children with and without allergy. Methods: Parents of children at primary health care centres/kindergartens and allergologist consultation were asked to answer a questionnaire and to bring a faecal sample. H. pylori infection was detected by monoclonal stool antigen test. Prevalence of H. pylori infection and risk factors were compared between individuals with and without allergy using ${\chi}^2$ test, ANOVA test and logistic regression. Results: Among 220 children (mean age, 4.7 years; ${\pm}standard$ deviation 2.3 years) H. pylori positivity was non-significantly lower among patients with allergy (n=122) compared to individuals without allergy (n=98): 13.9% (17/122) vs. 22.4% (22/98); p=0.106. In logistic regression analysis presence of allergy was significantly associated with family history of allergy (odds ratio [OR], 8.038; 95% confidence interval [CI], 4.067-15.886; p<0.0001), delivery by Caesarean section (OR, 2.980; 95% CI, 1.300-6.831; p=0.009), exclusive breast feeding for five months (OR, 2.601; 95% CI, 1.316-5.142; p=0.006), antibacterial treatment during the previous year (OR, 2.381; 95% CI, 1.186-4.782; p=0.015). Conclusion: Prevalence of H. pylori infection did not differ significantly between children with and without allergy. Significant association of allergy with delivery by Caesarean section and antibacterial therapy possibly suggests the role of gastrointestinal flora in the development of allergy, while association with family history of allergy indicates the importance of genetic factors in the arise of allergy.