• Childhood Kidney Diseases
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• v.21 no.1
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• pp.1-7
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• 2017

Mitogen-activated protein kinases (MAPKs) play important roles in various cellular functions including proliferation, differentiation, and apoptosis. We showed that MAPKs are developmentally regulated in the rat kidney. p38 MAPK (p38) and extracellular signal-regulated kinase (ERK) were strongly expressed in the fetal kidney, whereas c-Jun N-terminal kinase (JNK) was detected predominantly in the adult kidney. The inhibition of p38 or ERK in organ culture resulted in reduced nephron formation with or without reduced kidney size. On the other hand, persistent fetal expression pattern of MAPKs, i.e., upregulation of p38 and ERK and downregulation of JNK, was observed in the cyst epithelium of human renal dysplasia, ovine fetal obstructive uropathy, and pcy mice, a model of polycystic kidney disease. Furthermore, activated p38 and ERK induced by cyclic stretch mediated proliferation and $TGF-{\beta}1$ expression in ureteric bud cells, probably leading to cyst formation and dysplastic changes. Inhibition of ERK slowed the disease progression in pcy mice. Finally, ERK and p38 were inactivated in the early embryonic kidney subjected to maternal nutrient restriction, characterized by reduced ureteric branching and nephron number. Thus, MAPKs mediate the development of normal and diseased kidney. Their modulation may result in novel therapeutic strategies against developmental abnormalities of the kidney.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.31-35
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• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

• Clinical and Experimental Reproductive Medicine
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• v.44 no.1
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• pp.28-32
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• 2017

Objective: Growing evidence suggests that increased cardiovascular disease (CVD) risk is associated with female infertility caused by conditions such as polycystic ovarian disease, obesity, thyroid dysfunction, and endometriosis. The aim of this study was to evaluate whether any relationship exists between CVD and unexplained infertility. Methods: Sixty-five women with unexplained infertility and 65 fertile controls were enrolled in the study. CVD risk markers such as low-density lipoprotein (LDL), high-density lipoprotein (HDL), total cholesterol (TC), triglycerides (TG), insulin resistance (defined by the homeostasis model assessment ratio), and high-sensitivity C-reactive protein (hs-CRP) were assessed. Results: TG, TC, LDL, and hs-CRP levels were higher and HDL levels were lower in patients with unexplained infertility than in fertile controls (p<0.05 for all). Positive associations were found between unexplained infertility and TG, TC, LDL, and hs-CRP levels, and a negative correlation was found for HDL (p<0.05 for all). Multivariate logistic regression analysis showed that TG, HDL, and hs-CRP were independent variables associated with unexplained infertility. Conclusion: Our study showed that women with unexplained infertility had an atherogenic lipid profile and elevated hs-CRP levels, suggesting a higher risk of developing CVD in the future. Further studies with larger groups are needed to investigate the nature of this link.

• CELLMED
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• v.12 no.3
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• pp.10.1-10.12
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• 2022

Objective: The objective of the study was to evaluate the effect of Sharbat Afsantin in Polycystic Ovarian Disease. Methods: An open observational study was carried out in the Department of Ilmul Qabalat wa Amraze Niswan. Diagnosed cases(n=30) of PCOD were included in the study. Patients with thyroid dysfunction, systemic diseases, on hormonal treatment in last three months, pregnancy and lactation were excluded. Research drug (Sharbat Afsantin) was administered orally in a dose of 25ml twice daily for 15 days/cycle for three consecutive cycles. Outcome measures were, changes in subjective parameters (duration of cycle, duration and amount of flow and weight reduction) and objective parameters {pictorial blood loss assessment chart (PBAC) score, basal metabolic index (BMI), modified Ferriman Gallwey (mFG) score, acanthosis nigricans scale and pelvic ultrasonography}. Data were analyzed using paired Student 't' test. Results: Changes in duration of cycle, duration and amount of flow were achieved in 83.3%, 50% and 40% patients respectively and weight reduction in 30% patients. Changes in PBAC score and BMI were achieved in 50% and 30% patients respectively and 30% patients showed normal findings on pelvic ultrasonography. Conclusion: Sharbat Afsantin can be used as an alternate remedy in PCOD patients, as it has significant effect to regularize menstruation by reduction in BMI and probably by improving insulin resistance in PCOD. No adverse effect of Sharbat Afsantin was noted during the trial.

• Proceedings of the Zoological Society Korea Conference
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• 1998.04a
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• pp.60.1-60
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• 1998

No Abstract, See Full Text

• Clinical and Experimental Pediatrics
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• v.57 no.1
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• pp.1-18
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• 2014

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

• The Journal of Internal Korean Medicine
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• v.25 no.4
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• pp.192-199
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• 2004

Objective : This study was designed to evaluate the extent of effectivness of no mind-therapy (Korean traditional Qigong) on ADPKD. Method : ADPKD patient were observed for one year, given no Western Treatments, and treated only Josik(調息), Joki(調氣)(Korean traditional therapy). Results : 1. The general condition of patient improved and there were specific symtoms that ceased. 2. Hypertention patient showed a lowering of blood pressure. Conclusion : These results suggest a role for no mind-therapy in treatement of ADPKD.

• Clinical and Experimental Reproductive Medicine
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• v.12 no.1
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• pp.47-70
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• 1985

This study was presented of the 1,872 cases of infertile couples who visited and examined at the sterility clinic of Department of Obstetrics & Gynecology, Seoul National University Hospital from Sept., 1980 to Dec., 1983. Age, duration of infertility, past medical history, and other general factors were analyzed, and the factors responsible for infertility were classified and discussed. Mode of treatment, outcome of pregnancy, pregnancy rate responsible for each factor were also presented. The results were as follows: 1) The infertility was primary in 1,128, or 60.3% and secondary in 744, or 39.7%. 2) The age between 26 and 30 years of age comprised about one half of the total patients. 3) The duration of infertility between 1 and 4 years comprised about three quarters of the total patients, and the mean duration was 3.8 years. 4) The most common medical history in primary infertility was tuberculous disease, and that in secondary infertility was history of previous laparotomy. 5) About two thirds of antecedent pregnancies were abortion. 6) The major etiologic factor of infertility were male factor in 12.3%, tubal factor in 38.8%, ovulatory failure in 25.4%, uterine factor in 8.8%, cervical factor in 5.2%, peritoneal factor in 9.5%, and no demonstrable cause in 11.3%. 7) The types of male factor were azoospermia in 61.6%, oligospermia in 25.8%, low motility in 11.6%, and other abnormality in 1.0%. 8) The types of ovulatory failure were ovarian failure in 7.4%, hypothalamo-pituitary failure in 8.1 %, hypothalamo-pituitary dysfunction (including Polycystic ovarian syndrome) in 30.2%, and hyperprolactinemia in 22.4%. 9) The types of uterine factor were endometrial tuberculosis in 27.5%, uterine synechia in 33.8%, uterine anomaly in 19.7%, myoma and polyp in 9.1 %, and luteal phase defect in 9.9%. 10) The types of peritoneal factor were pelvic adhesion in 80.9% and endometriosis in 19.6%. 11) Surgeries were done in 408 patients, and they were salpingolysis, lysis of extraadnexal adhesion, salpingostomy, fimbrioplasty, ovarian wedge resection for polycystic ovarian disease, tubo-tubal anastomosis, and tubo-uterine implantation in orders. 12) 243 pregnancies were achieved during the infertility work-up, of which livebirth was 46.5%, ectopic pregnancy was 7.4%, spontaneous abortion was 7.8%, and on-going pregnancy or lost to follow-up was 36.2%. 13) Pregnancy rates in various factors were male factor in 18.7%, ovulatory factor in 31.7%, tubal factor in 24.2%, uterine factor in 34.6%, cervical factor in 19.0%, peritoneal factor in 29.0%, combined factors in 10.5%, and unexplained infertility in 37.1%. Pregnancy rate in whole patients was 25.2%.

• Childhood Kidney Diseases
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• v.24 no.1
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• pp.47-52
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• 2020

Pneumocystis pneumonia (PCP) is a rare disease in healthy people but a potentially fatal opportunistic infection by Pneumocystis jirovecii in immunocompromised patients with organ transplantation. We present three cases of PCP after kidney transplantation in pediatric patients. First case was a 4-year-old boy diagnosed with Denys-Drash syndrome and received living-donor kidney transplantation from his mother at age of 1. Second case was a 19-year-old male, with polycystic kidney disease, who received kidney transplantation from his mother at the age of 18. Third case was a 19-year-old female with chronic kidney disease of unknown etiology, who received kidney transplantation from her father at age of 15. These three patients who were on immunosuppressive therapy and completed of routine PCP prophylaxis for 6 months had presented with cough and dyspnea more than 1 year after transplantation. Chest x-ray all showed diffuse haziness of both lung fields, and bronchoalveolar lavage from bronchoscopy revealed Pneumocystisjirovecii infection. All patients showed clinical resolution with intravenous trimethoprim-sulfamethoxazole (TMP-SMX) therapy for at least 3 weeks and had continued secondary prophylaxis for another 6-12 months. This report suggests that clinicians should have suspicion for the possibilities of opportunistic infection such as PCP after kidney transplantation in children.

• BMB Reports
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• v.41 no.8
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• pp.593-596
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• 2008

ADPKD (Autosomal Dominant Polycystic Kidney Disease) is characterized by the progressive expansion of multiple cystic lesions in the kidneys. ADPKD is caused by mutations in Ed-pl. consider PKD1 and PKD2. Recently a relation between c-myc and the pathogenesis of ADPKD was reported. In addition, c-Myc is a downstream effector of PKD1. To identify the gene regulated by PKD2 and c-Myc, we performed gene expression profiling in PKD2 and c-Myc overexpressing cells using a human 8K cDNA microarray. NCAM (neuronal cell adhesion molecule) levels were significantly reduced in PKD2 overexpressing systems in vitro and in vivo. These results suggest that NCAM is an important molecule in the cystogenesis induced by PKD2 overexpession.