Partial Trisomy of 3p (Trisomy of 3p2, dup (3) (p23-->pter)) is a characteristic syndrome of chromosomal duplication of distal part of 3p, but breakpoints seem to vary in location. This syndrome shows multiple congenital anomalies with severe mental retardation, characteristic craniofacial change and absence of other gross external abnormalities. The craniofacial dysmorphism includes frontal bossing and temporal indentation, square face, marked hypertelorism, thick and short nose, full lips and a large mouth with downturned corners. Congenital heart defect, most frequently ASD and VSD, are found in most patients. In the majority of patients, the 3p2 duplication is the unbalanced product of a parental autosomal translocation involving 3p2 and another chromosome. We report a case of female baby who has facial dysmorphism, ASD and hyptonia and was found to have 3p2 duplidation (46XX-9, +der(9)t (3:9)(p23:p24)) by chromosomal analysis. Also we found her father was a carrier of blanced translocation of 3p2 and chromosome 9p (46XY, t(3:9)(p23:p24)).
Chromosome Duplication ; Fathers ; Female ; Heart Defects, Congenital ; Humans ; Hypertelorism ; Intellectual Disability ; Lip ; Mouth ; Nose ; Parents ; Trisomy*

Aged ; Dyslipidemias ; drug therapy ; Humans ; Liver ; drug effects ; metabolism ; Male ; Rosuvastatin Calcium ; adverse effects ; therapeutic use

OBJECTIVE: Diverse glomerular disorders leadsing to progressive glomerulosclerosis share the common features of increased mRNA expression for extra- cellular matrix protein and growth factors. The precise role of angiotensin II in contributing to these disturbances is currently unknown. ACE inhibitors have been proved to be beneficial in protecting against glomerular injury in animal models and many of human glomerular diseases. Type IV collagen is a main component of extracellular matrix in the mesangium : its increased accumulation is a common pathologic finding in the glomerulosclerosis. There are some evidences that the beneficial effect of ACE inhibitor does not solely depend on the hemodynamic effect, but may be mediated by other effect. The purpose of this study is to evaluate the effects of high glucose, angiotensin II and angiotensin converting enzyme inhibitor on the expression of PC alpha1(lV) in mesansial cells(MCs). METHODS: Human mesangial cells were cultured with standard method. To investigate the effect of each drug and high glucose condition, MCs were cultured in the normal-glucose medium(100mg/dl) and high-glucose medium(450mg/dl), respectively. An- giotensin II and angiotensin converting enzyme inhibitor(captopril) were added to culture medium at final concentration of 10 M which is the physiologic dose in vivo. MCs were cultured in each condition for 3days, when the maximal effect of high glucose on MCs, and harvested for mesurement of the expression of PC alpha1(IV) mRNA. To quantitate the PC alpha(1V) mRNA levels in each condition, semiquantitatine RT-PCR was done with co-amplification of house keeping gene. RESULTS: PCa1(IV) mRNA expression was significantly increased in high-glucose medium(30mM) compared to normal-glucose medium(5.5mM)(2.28+/-0.34 vs 0.96+/-0.08, p<0.05). Administration of angiotensin ll(10(-6)M) in culture media induced a further increment in the PC a >(IV) mRNA expression to 4.64+/-0.28(p<0.05). Angiotensin II in the normal-glucose medium increased the PC alpha1(lV) mHNA expression as 2.69+/-0.23 control(p<0.05). Addition of angiotensin converting enzyme inhibitor(Capopril, 10(-6)M) in high- glucose culture medium significantly suppressed the PC alpha1(IV) mRNA expression as 0.690.11(p<0.05). CONCLUSION: High glucose concentration in culture medium significantly increases the mRNA expression of procollagen alphal(IV) than normal glucose concentration. Angiotensin II increases the collagen mRNA expression directly and this effect was significantly prevented by ACE inhibitor. This result suggests that hyperglycemia in diabetic millieu can directly increase collagen production, and ACE inhibitor may inhibit progressive glomerulosclerosis by decreasing collagen production as well as reducing intraglomerular pressure.
Angiotensin II ; Angiotensin-Converting Enzyme Inhibitors ; Angiotensins* ; Collagen ; Collagen Type IV ; Culture Media ; Extracellular Matrix ; Glucose* ; Hemodynamics ; Humans* ; Hyperglycemia ; Intercellular Signaling Peptides and Proteins ; Mesangial Cells* ; Models, Animal ; Peptidyl-Dipeptidase A ; Procollagen ; RNA, Messenger*

BACKGROUND: The most noted rearrangement identified in acute promyelocytic leukemia (APL) involves the PML and RARa genes, which results in the formation of the PML/RARa gene fusion. In the fluorescence in situ hybridization (FISH) for PML/RARa, the two signals may coincidentally overlap in normal nuclei. We investigated whether a new RARa rearrangement probe could discriminate the false-positive fusion signal of the PML/RARa translocation probe. METHODS: A total of 51 cases, which showed the results from 1% to the borderline level by PML/ RARa FISH, were re-tested with the RARa rearrangement probe. Also, we compared the RARa FISH with the PML/RARa FISH on 16 patients with newly diagnosed APL and performed the RARa FISH on 20 bone marrow specimens without hematologic malignancies in order to set up the cut-off value. RESULTS: The cut-off for the RARa FISH was determined as 1.02%. For patients with newly diagnosed APL, the PML/RARa FISH showed positive signals in 95.3+/-6.5% of the cells and RARa FISH showed positive signals in 97.0+/-7.0% (r=0.83). Of a total of 41 cases consisting of hematological disorders other than APL, five cases showed results equal to or greater than 5% with PML/RARa FISH and one case showed a positive result with RARa FISH. Of 10 follow-up APL cases, seven cases showed results equal to or greater than 5% with the PML/RARa FISH and four cases showed positive results with the RARa FISH. CONCLUSIONS: The cut-off value for the RARa FISH is 1.02% and we consider RARa FISH as the proper method for follow-up of APL.
Bone Marrow ; Fluorescence* ; Follow-Up Studies* ; Gene Fusion ; Hematologic Neoplasms ; Humans ; In Situ Hybridization* ; Leukemia, Promyelocytic, Acute*

Vivax malaria was endemic on the Korean peninsula for many centuries until the late 1970's when the Republic of Korea (ROK) was declared "malaria free". Since its re-emergence in 1993, the number of malaria cases in the military increased exponentially through 2000 near the demilitarized zone. Chemoprophylaxis with chloroquine and primaquine has been used in the ROK Army since 1997 in an attempt to reduce the number of the malaria cases throughout the ROK. Data show that chemoprophylaxis contributed, in part, to the decrease in the number of malaria cases among military personnel. However, mass chemoprophylaxis on a large scale in the ROK Army is unprecedented and extensive supervision and monitoring is warranted to determine its effectiveness and to monitor the appearance of chloroquine tolerant/resistant strains of Plasmodium vivax.
Antimalarials/therapeutic use ; Chemoprevention/methods/statistics and numerical data ; Chloroquine/*therapeutic use ; Disease Outbreaks/*prevention and control/*statistics and numerical data ; Humans ; Incidence ; Korea/epidemiology ; Malaria, Vivax/*epidemiology/*prevention and control ; Military Personnel/*statistics and numerical data ; Outcome Assessment (Health Care) ; Prevalence ; Primaquine/*therapeutic use ; Research Support, Non-U.S. Gov't ; Risk Assessment/methods ; Risk Factors ; Treatment Outcome

BACKGROUND: Since the bioavailability of itraconazole capsule is influenced by patients gastric acidity, it results in treatment failure due to its low dissolution and subsequent low absorption when administered in fasting. Itraconazole Melt-Extrusion tablet has been lately developed in order to improve its dissolution profile. It is the first clinical study to evaluate the efficacy and safety of itraconazole Melt-Extrusion tablet in Korea. OBJECTIVE: This study was conducted to evaluate the efficacy and safety of itraconazole melt-extrusion tablet 400mg daily for 1 week(pulse therapy) for hyperkeratotic type of tinea pedis and manus. METHODS: A clinical and mycological investigation was made of 812 outpatients with hyperkeratotic type of tinea pedis and/or tinea manus who had visited at 52 general hospitals under the lead of the Korean Dermatological Association from June to December, 1998. Patients confirmed by clinically and microscopically as hyperkeratotic type of tinea pedis and/or tinea manus were administered 2 tablets twice a day for one week and followed up for 8 weeks from the start of the medication. RESULTS: The results were summarized as follows; 1. Clinical symptoms of hyperkeratotic type of tinea pedis and/or tinea mauns were significantly improved at the end of study, week 8(p<0.001). 2. Clinical response rate, defined as more than 50% decrease of the sum of the clinical symptom scores, was 79.3%(512/646). 3. Mycological cure rate, dafined as both culture and KOH negative at week 8, was 78.2%(244 /312). 4. 40(5.5%) patients, of the 727 patients evaluable for drug safety evaluation, were reported to have adverse event. CONCLUSION: Itraconazole Melt-Extrusion tablet 400mg/day for 1 week (pulse therapy) is effective and safe in the treatment of hyperkeratotic type of tinea pedis and/or tinea manus.
Absorption ; Biological Availability ; Fasting ; Gastric Acid ; Hospitals, General ; Humans ; Itraconazole* ; Korea ; Outpatients ; Tablets ; Tinea Pedis* ; Tinea* ; Treatment Failure