No abstract available.
Carbon*

Holoprosencephaly is a rare malformation complex or development defect including different degrees of incomplete cleavages of the embryonic prosencephalon and varying degrees of the midface defects, resulting from the defect of prechordal mesoderm, migrating forward into the area anterior to the notochord during the third week of fetal development. Early antenatal diagnosis of holoprosencephaly is important to find out its severity, to predict its prognosis, and to determine proper management according to its prognosis and severity. The possibility of early antenatal diagnosis of holoprosencephaly by ultrasound has been suggested, but occasionally missed and rarely confirmed. We present one case of lobar holoprosencephaly, diagnosed postnatally and one case of alobar holoprosencephaly, diagnosed antenatally in our hospitals.
Fetal Development ; Holoprosencephaly* ; Mesoderm ; Notochord ; Prenatal Diagnosis ; Prognosis ; Prosencephalon ; Ultrasonography

BACKGROUND/AIMS: A drug-eluting stent for unresectable malignant biliary obstruction was developed to increase stent patency by preventing tumor ingrowth. The safety and efficacy of a new generation of metallic stents covered with a paclitaxel-incorporated membrane using a Pluronic® mixture (MSCPM-II) were compared prospectively with those of covered metal stents (CMSs) in patients with malignant biliary obstructions. METHODS: This study was initially designed as a prospective randomized trial but was closed early because of a high incidence of early occlusion. Therefore, the data were analyzed using the intent-to-treat method. A total of 72 patients with unresectable distal malignant biliary obstructions were prospectively enrolled. RESULTS: The two groups did not differ significantly in basic characteristics and mean follow-up period (MSCPM-II 194 days vs CMS 277 days, p=0.063). Stent occlusion occurred in 14 patients (35%) who received MSCPM-II and in seven patients (21.9%) who received CMSs. Stent patency and survival time did not significantly differ between the two groups (p=0.355 and p=0.570). The complications were mild and resolved by conservative management in both groups. CONCLUSIONS: There were no significant differences in stent patency or patient survival in MSCPM-II and CMS patients with malignant biliary obstructions.
Biliary Tract Neoplasms ; Drug-Eluting Stents ; Follow-Up Studies ; Humans ; Incidence ; Membranes* ; Methods ; Paclitaxel* ; Pancreatic Neoplasms ; Prospective Studies* ; Self Expandable Metallic Stents ; Stents*

OBJECTIVE: This study was performed to evaluate the status of p16 tumor suppressor gene in 25 endometrial carcinomas (ECs) and to correlate the loss of heterozygosity (LOH) at p16 locus, the presence of inactivating mutations, the methylation status of the promotor, and the expression of p16 protein with clinicopathological parameters. METHODS: Methylation-specific PCR (MSP) distinguishes unmethylated from methylated alleles in a given gene on sequence changes produced after bisulfite treatment of DNA. Allelic losses were determined at two polymorphic dinucleotide repeat microsatellite markers of the p16 gene on chromosome 9p21 that included D9S974 and D9S1748 at CDKN2A. Mutations were analyzed by exons 1 and 2 of p16 PCR-SSCP. Immunohistochemical staining for p16 protein was performed. The associations between genetic alterations of the p16 and the clinicopathological parameters of ECs were evaluated by chi-squared or Fisher's extraction tests. RESULTS: The median age of the 25 cases was 52 years, ranging from 32 to 72. The median tumor size was 3.6 cm, ranging from 0.8 to 9.5 cm. Histologically, the ECs were 21 endometrioid, 2 adenosquamous, 1 secretory and 1 papillary serous types. Nine cases of p16 protein staining were negative or minimal positive in 25 ECs (36%). Allelic losses were found in 6 loci (66.7%) of 5 ECs without p16 protein expression (Fisher's extraction test, p=0.0029), In this study, only 2 of 25 ECs (8%) disclosed mutations. Non-endometrioid (secretory and adenosquamous) carcinomas showed more frequent mutation and methylation than endometrioid carcinomas (p=0.043) and high grades (G3, p=0.018) showed more frequent mutation and methylation than low grade ECs. CONCLUSION: This study suggests that methylation of p16 promoter region seems not to be common (only 9.5% in our present series) and not to be associated with loss of nuclear p16 protein expression. Loss of p16 protein indicates a higher frequency of LOH, which contributes to the development of high grade or aggressive ECs. The mechanism of p16 inactivation is not clear, so other genetic or nongenetic mechanisms for inactivation should be further studied.
Alleles ; Carcinoma, Endometrioid ; Dinucleotide Repeats ; DNA ; Endometrial Neoplasms* ; Exons ; Female ; Genes, p16 ; Genes, Tumor Suppressor ; Loss of Heterozygosity ; Methylation ; Microsatellite Repeats ; Polymerase Chain Reaction ; Promoter Regions, Genetic*

BACKGROUND: Chemotherapy with 5-fluorouracil (5-FU) has been one of the mainstay in breast cancer treatment. The effects of high dose 5-FU on cell cycle regulation were studied in breast caner cells. METHODS: A breast cancer cell line MCF-7 was used. Protein expressions of G1/S cyclins, p21(Waf1/Cip1), cdk2, E2F1 and retinoblastoma were tested by western blot analysis. Immunoprecipitation and immune complex kinase assay were done for the assessment of E2F1/RB interacton and the activity of cdk2 respectively. RESULTS: p21(Waf1/Cip1) expression was barely detectable in control cells. With addition of 5-FU level of p21(Waf1/Cip1) were induced and cyclin D3 level was decreased as cell growth decreases. In accordance with increased expression of p21(Waf1/Cip1), cyclin E-associated cdk2 kinase activity was reduced. Retinoblastoma protein (RB) became dephosphorylated and E2F-1 binding activity with RB was increased. CONCLUSION: In this situation of high concentration of 5-FU breast cancer cells tend to be G1/S cell cycle arrested. Overexpression of p21(Waf1/Cip1) and dephosphorylation of RB may mediate the effectss of 5-FU by inhibiting E2F-1 activity, which contributes to G1/S cell cycle arrest. These results could be an indicating landmark for further study of high dose chemotherapy with 5-FU.
Antigen-Antibody Complex ; Blotting, Western ; Breast Neoplasms* ; Breast* ; Cell Cycle Checkpoints ; Cell Cycle* ; Cell Line* ; Cyclin D3 ; Cyclins ; Drug Therapy ; Fluorouracil* ; Immunoprecipitation ; Phosphotransferases ; Retinoblastoma ; Retinoblastoma Protein

A young woman who had a delivery history 3 months previously presented with dyspnea and orthopnea. Initial findings of physical examination, chest radiography, and echocardiogram showed typical congestive heart failure with severe left ventricular (LV) dysfunction. At first, we considered peripartum cardiomyopathy because she had given birth to a baby 3 months previously. However, even though we massively tried conventional drug therapy for 10 days, the patient still remained with refractory heart failure. We performed additional laboratory studies such as complement level and autoantibodies, of which the results supported systemic lupus erythematosus. We could make the diagnosis of acute lupus myocarditis and treated her with corticosteroid. The symptoms were dramatically disappeared and LV function also improved.
Acute Disease ; Administration, Oral ; Adult ; Echocardiography ; Female ; Glucocorticoids/administration & dosage ; Heart Failure/*diagnosis ; Humans ; Lupus Erythematosus, Systemic/complications/*diagnosis/radiography ; Methylprednisolone/administration & dosage ; Myocarditis/*diagnosis/etiology/radiography ; Prednisolone/administration & dosage

A 63-year old man, who was a stone mason, was hospitalized due to dyspnea and generalized edema. Chest X-ray showed the presence of multiple scattered small nodular opacities in both lobes and egg-shell calcification in both hilum. Laboratory finding showed proteinuria and hematuria and antinuclear antibody was positive. Renal biopsy revealed membranous nephropathy and tubular atrophy. He was treated with cyclophosphamide, but proteinuria has been sustained. In literature reviewed, silicosis was associated with various forms of glomerulonephritis, but in Korea, such case has not been reported except the one case of microscopic polyangitis with membranous glomerulonephropathy associated with pulmonary silicosis. We experienced membranous nephropathy in a patient with pulmonary silicosis, thus we report it.
Antibodies, Antinuclear ; Atrophy ; Biopsy ; Cyclophosphamide ; Dyspnea ; Edema ; Glomerulonephritis ; Glomerulonephritis, Membranous* ; Hematuria ; Humans ; Korea ; Middle Aged ; Nephrotic Syndrome ; Proteinuria ; Silicosis* ; Thorax

A 63-year old man, who was a stone mason, was hospitalized due to dyspnea and generalized edema. Chest X-ray showed the presence of multiple scattered small nodular opacities in both lobes and egg-shell calcification in both hilum. Laboratory finding showed proteinuria and hematuria and antinuclear antibody was positive. Renal biopsy revealed membranous nephropathy and tubular atrophy. He was treated with cyclophosphamide, but proteinuria has been sustained. In literature reviewed, silicosis was associated with various forms of glomerulonephritis, but in Korea, such case has not been reported except the one case of microscopic polyangitis with membranous glomerulonephropathy associated with pulmonary silicosis. We experienced membranous nephropathy in a patient with pulmonary silicosis, thus we report it.
Antibodies, Antinuclear ; Atrophy ; Biopsy ; Cyclophosphamide ; Dyspnea ; Edema ; Glomerulonephritis ; Glomerulonephritis, Membranous* ; Hematuria ; Humans ; Korea ; Middle Aged ; Nephrotic Syndrome ; Proteinuria ; Silicosis* ; Thorax

Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifestating a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) plays an important role in the regulation of PTH secretion and calcium metabolism. Here we present a family with FBHH of an autosomal dominant inheritance. A heterozygous mutation of E297K (GAG -> AAG, exon 4) of CaSR gene was found in 3 family members. To our knowledge, it is the first confirmed case of FBHH with CaSR gene mutation in Korea.
Sequence Analysis, DNA ; Receptors, Calcium-Sensing/*genetics ; Pedigree ; Parathyroid Hormone/analogs & derivatives/genetics/metabolism ; *Mutation ; Metabolism, Inborn Errors/*genetics ; Male ; Korea ; Hypercalcemia/*genetics ; Humans ; Heterozygote ; Genes, Dominant ; Female ; Family Health ; Exons ; DNA Restriction Enzymes/metabolism ; DNA/metabolism ; Adult

Lithium is commonly employed in the treatment of bipolar disorders. The commonly reported nephrotoxic effects of lithium therapy are nephrogenic diabetes insipidus and chronic tubulointerstitial nephropathy with little or no proteinuria. Mild proteinuria is a common manifestation of most renal injuries including nephrotoxicity by lithium. But nephrotic syndrome related with lithium therapy is very rare and only one case of membranous glomerulonephritis has been reported in Korea by this time. We report a lithium toxicity case manifested by nephrotic syndrome, nephrogenic diabetes inspidus and chronic renal insufficiency in a 44-year-old man who had been taking lithium for 13 years for bipolar disorder. Kidney pathology showed minimal change disease and chronic tubulointerstitial nephritis which can be seen in chronic lithium toxicity. Polyuria and massive proteinuria disappeared with the withdrawal of lithium. Renal function was gradually improved but not to norma range. Careful and regular monitoring on the renal function in all patients on lithium treatment will be needed.
Adult ; Bipolar Disorder ; Diabetes Insipidus, Nephrogenic ; Glomerulonephritis, Membranous ; Humans ; Kidney ; Korea ; Lithium* ; Nephritis, Interstitial* ; Nephrosis, Lipoid* ; Nephrotic Syndrome ; Pathology ; Polyuria ; Proteinuria ; Renal Insufficiency ; Renal Insufficiency, Chronic