• Childhood Kidney Diseases
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• 제3권2호
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• pp.221-226
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• 1999

Glomerulocystic kidney disease(GCKD) is a rare form of renal cystic disease defined histopathologically by containing dilated Bowman's space with variable atrophy of glomerular tufts, which may occur as sporadically or as familial cases and can be presented as a major component of heritable syndromes. It has not been recognized in Korean children but only one report of adult case has been reported having GCKD. We experienced a case of GCKD in a 10-year-10-month-old boy, who was admitted for hypertension. Abdominal ultrasonography and computed tomography revealed clustered numerous small cysts in left kidney and renal biopsy findings was consistent with the GCKD showing cystic dilatation of Bowman's space with intact glomerular structure.

• The Journal of Korean Obstetrics and Gynecology
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• 제20권1호
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• pp.161-168
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• 2007

Purpose : The purpose of this study is to identify the difference of clinical effects of gyejibongnyeong-hwan and acupuncture therapy on primary dysmenorrhea. Methods : We studied with ten patients recruited from April, 2003 to Feburary, 2004. Women with organic disease as uterine myoma, ovarian cysts and pelvic inflammatory disease were excluded from this study. We treated them with gyejibongnyeong-hwan or gyejibongnyeong-hwan combined acupuncture therapy for 8weeks. The severity of dysmenorrhea was measured by VAS(Visual Analog Scale). Results : gyejibongnyeong-hwan significantly decreased the severity of dysmenorrhea. And Gyejibongnyeong-hwan combined Acupuncture therapy significantly decreased the severity of dysmenorrhea. The change of VAS of gyejibongnyeong-hwan group is significantly higher than gyejibongnyeong-hwan combined acupuncture. Both of Gyejibongnyeong-hwan and acupuncture did not show hepatic and renal virulence. Conclusion : This study shows that gyejibongnyeong-hwan has remarkable effects on dysmenorrhea patients. Obviously further researches concerning all these area still necessary.

• Clinical and Experimental Pediatrics
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• 제50권2호
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• pp.178-181
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• 2007

Purpose : The renal manifestations of tuberous sclerosis complex (TSC) are remarkably diverse, including polycystic kidney disease, simple renal cysts, renal cell carcinomas, and angiomyolipomas. All of these occur in children as well as adults in TSC. Angiomyolipomas, which can cause spontaneous life-threatening hemorrhages, are by far the most prevalent and the greatest source of morbidity. Here, we will address our experience, adding to the literature on pediatric patients with TSC requiring evaluation and treatment for renal manifestations. Methods : A retrospective analysis was made on 19 patients in whom TSC was diagnosed between May 2001 and Oct. 2005 at Severance Hospital. All patients had clinical diagnoses of TSC as defined by the 1998 tuberous sclerosis complex consensus conference. Results : The patients consisted of 13 boys and 6 girls with a mean age of 7.3 years (range 1 to 22). The renal disease associated with TSC included angiomyolipoma in nine patients (47.4 percent), renal simple cyst in one (5.3 percent), hydronephrosis in one (5.3 percent) patient. Eight patients (42.1 percent) presented with normal kidney contours at abdominal ultrasonography. One patient underwent renal replacement therapy due to chronic renal insufficiency after nephrectomy. Hemorrhage from angiomyolipoma was not detected. Conclusion : In our review of 19 cases of TSC, renal manifestations are reported in 57.9 percent of patients. Asymptomatic angiomyolipoma associated with TSC grow gradually, although severe hemorrhages are rare. So patients with TSC should be followed up with serial computerized tomography or abdominal ultrasonography. And also, renal function should be monitored conservatively.

• Journal of Veterinary Clinics
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• 제29권2호
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• pp.130-133
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• 2012

The purpose of this study is to assess the relationship between glomerular filtration rate (GFR) and age by using dynamic computed tomography (CT) and Patlak plot analysis in dogs. Fifteen dogs were used in this study. CT-GFR study was performed under general anesthesia using propofol and isoflurane. 1 ml/kg dosage of 300 mgI/ml iohexol was administered at a rate of 3 ml/s during GFR measurement. CT-GFR was determined with a single-slice dynamic acquisition and Patlak plot analysis. The individual and global GFR values were calculated to plasma clearance per body weight (ml/min/kg). Bodyweight ($mean{\pm}SD$) ranged from 2.0 to 5.7 kg ($3.31{\pm}1.13$ kg). Age ranged from 3 years to 13 years old ($7.14{\pm}3.30$). $Mean{\pm}SD$ creatinine ($0.53{\pm}0.34 $mg/dl), phosphorus ($4.1{\pm}1.2$ mg/dL), and albumin ($3.3{\pm}0.3$ mg/dL) concentrations and urine protein-to-creatinine ratios (all ratios were < 0.5) were within reference ranges. Abdominal ultrasonography revealed small-sized renal calculi, mineralization, or renal cyst at eight dogs. The global CT-GFR ranges shown in this study was 2.57 to 6.60 ml/min/kg. In this study, there was no trend toward weight-adjusted CT-GFR with increasing age. We found no relationships between age-related kidney dysfunction in fifteen dogs. Small-sized renal calculi or cysts did not affect renal function in this study. However, it is thought that a large sample size may have been required to document an age effect.

• Asian Pacific Journal of Cancer Prevention
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• 제16권5호
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• pp.1977-1980
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• 2015

Objective: The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system hemangioblastoma (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and renal cysts, is caused by mutations or deletions of the VHL tumor-suppressor gene. To assess VHL genotype-phenotype correlations with function of pVHL a gene mutation analysis of members in a Chinese family with non-syndromic PCCs and individuals with apparently sporadic pheochromocytoma (ASP) was performed. Materials and Methods: DNA samples of 20 members from the Chinese family with non-syndromic PCCs and 41 patients with ASP were analyzed by polymerase chain reaction and direct sequencing, confirmed by Taqman probe. Results: Three novel mutations (H125P, 623(^TTTGTtG) and R120T) were identified in the Chinese family and in 3 among 41 ASP patients. The mutations were all located in exon 2 of VHL gene encoding ${\beta}$-domain of pVHL. The tumor type in H125P carriers and R120T carriers was VHL type 2C. And 623(^TTTGTtG) carriers presented VHL type 2B or type 2C. Conclusions: VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL. H125P and R120T could be associated with VHL type 2C, while 623(^TTTGTtG) might be linked with VHL type 2B or type 2C. Not only is the genetic analysis helpful for early diagnosis and treatment of patients with VHLD, it is also benefitial for research intoVHLD pathogenesis.

• Genomics & Informatics
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• 제10권1호
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• pp.16-22
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• 2012

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by formation of multiple fluid-filled cysts that expand over time and destroy renal architecture. The proteins encoded by the $PKD1$ and $PKD2$ genes, mutations in which account for nearly all cases of ADPKD, may help guard against cystogenesis. Previously developed mouse models of $PKD1$ and $PKD2$ demonstrated an embryonic lethal phenotype and massive cyst formation in the kidney, indicating that $PKD1$ and $PKD2$ probably play important roles during normal renal tubular development. However, their precise role in development and the cellular mechanisms of cyst formation induced by $PKD1$ and $PKD2$ mutations are not fully understood. To address this question, we presently created $Pkd2$ knockout and $PKD2$ transgenic mouse embryo fibroblasts. We used a mouse oligonucleotide microarray to identify messenger RNAs whose expression was altered by the overexpression of the $PKD2$ or knockout of the $Pkd2$. The majority of identified mutations was involved in critical biological processes, such as metabolism, transcription, cell adhesion, cell cycle, and signal transduction. Herein, we confirmed differential expressions of several genes including aquaporin-1, according to different $PKD2$ expression levels in ADPKD mouse models, through microarray analysis. These data may be helpful in $PKD2$-related mechanisms of ADPKD pathogenesis.

• Korean Journal of Veterinary Research
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• 제34권4호
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• pp.787-799
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• 1994

To elucidate morphologic lesion of porcine exudative epidermitis which is occurred sporadically in Korea, Staphylococcus hyicus subsp. hyicus isolated from the naturally affected pigs was inoculated to suckling pigs. The infected piglets were observed grossly and histopathologically. Although affected piglets were taking acute, subacute, or chronic course, some piglets suffered from chronic disease showed poor prognosis and marked growth depression. Affected peglets had erythematous skin on the face, ear, and abdomen and these localized lesions appear as brownish spots of exudative epidermitis and fromed crust in the early stage. But, after this stage, the skin were covered by viscous greasy exudate and formed blackish brown crust and appeared fissures and hypertrophy. Grossly, there has been hemorrhage with the removal of crust-like materials of epidermis and edematous subcutis. The superficial lymph nodes were edematous and swollen or congested and hemorrhagic. Some piglets had swollen ureters, cysts in the renal cortex, or polyarthritis. A few cases had mild edematous swelling of kidney, intestinal catarrh and congestion of brain. Microscopically, skin lesions had detachment of keralinized layer and parakeratosis of epidermis, hydropic degeneration of epidermal cell, and retrogressive degeneration of hair root sheath. Dermis had edema, and infiltration of neutrophils and mononuclear cells. As the disease was proceeded, there was marked perivasculitis with lots of mononuclear inflammatory cells. More chronic lesions formed granuloma-like bodies(nodules) due to more mononuclear, perivascular inflammatory cell infiltration and proliferation of fibroblast. Lots of plasma cells and eosinophils were also present in dermis. Epidermis was hyperplastic by proliferation of basal cells stratum germinativum and epidermal pegs often extended into the dermis. In secondary infection, lots of neutrophils could be seen in epidermis and derms. Kidney had neutrophilic infiltration, necrotic and cystic glomeruli, and dilation of renal tubules and ureters. Purulent arthritis was sometimes observed in joints. Three days old mice administrated Staphylococcus hyicus subsp hyicus subcutaneously before had focal congestion and hemorrhage, necrosis, and subcutaneous edema of the skin. This observation was also seen in the study of mice administrated exfoliatin toxin of Staphylococcus which evoked human staphylococcal scalded skin syndrome.

• Journal of Veterinary Clinics
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• 제24권1호
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• pp.68-72
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• 2007

An 8-year-old, male Shih-tzu dog with clinical signs of hemorrhage from penile orifice and pain on lifting hindlimb was brought to the Veterinary Medicine Teaching Hospital, Chungnam National University. The patient was shown polyuria/polydipsia (PU/PD), more than 10 times per day, and gasterointestinal signs such as intermittent vomiting and melena. On laboratory examination, BUN, creatinine and amylase level were all highly increased. Radiographic and ultrasonographic findings included that both kidneys were abnormal, and both prostates were hyperplastic bilaterally and cysts were presented in parenchyma. Additionally, hyperechoic pancreas and intact urinary bladder were observed from ultrasonographic examination. The dog was diagnosed as pancreatitis, acute renal failure and benign prostatic hyperplasia (BPH). After the appropriate treatment for pancreatitis and acute renal failure, He dog was treated with administration of azasteroid for BPH. On day 71 after azasteroid treatment, good response to the treatment was defined by ultrasonography and clinical signs cured completely.

• Journal of Korean Neurosurgical Society
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• 제58권4호
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• pp.389-392
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• 2015

Brown tumors also called as osteoclastomas, are rare nonneoplastic lesions that arise in the setting of primary or secondary hyperparathyroidism. Parathyroid adenomas or hyperplasia constitute the major Brown tumor source in primary hyperparathyroidism while chronic renal failure is the leading cause in secondary hyperparathyroidism. Most of the patients with the diagnosis of primary hyperparathyroidism present with kidney stones or isolated hypercalcemia. However, nearly one third of patients are asymptomatic and hypercalcemia is found incidentally. Skeletal involvement such as generalized osteopenia, bone resorption, bone cysts and Brown tumors are seen on the late phase of hyperparathyroidism. The symptoms include axial pain, radiculopathy, myelopathy and myeloradiculopathy according to their locations. Plasmocytoma, lymphoma, giant cell tumors and metastates should be ruled out in the differential diagnosis of Brown tumors. Treatment of Brown tumors involve both the management of hyperparathyroidism and neural decompression. The authors report a very rare spinal Brown tumor case, arisen as the initial manifestation of primary hyperparathyroidism that leads to acute paraparesis.

• Clinical and Experimental Pediatrics
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• 제57권3호
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.