Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.
Ankylosis ; Diagnosis ; Extremities ; Fetal Growth Retardation ; Pathology ; Phenotype* ; Polyhydramnios ; Trisomy*

We report a case of sarcoidosis in a 4-year-old girl. She showed the involvements of the skin and eye, which are the characteristics of sarcoidosis in very young patients, and also showed an unusual finding of hepatosplenomegaly. Because the diagnosis of childhood sarcoidosis is difficult and serious sequelae can develop from sarcoidal uveitis, an early skin biopsy and regular ophthalmologic assessment are essential.
Biopsy ; Child, Preschool ; Diagnosis ; Female* ; Humans ; Sarcoidosis* ; Skin ; Uveitis

An ischemic foot can be developed by acute arterial occlusion. Given proper treatment within critical time, the patient can avoid foot amputation and death. Early proper diagnosis and treatment by family physician at the initial clinical interviewing is important in saving the affected leg and the life. Thrombosis and embolism are the common causes of acute arterial occlusion. Thrombosis mostly arises from underlying cardiac disease such as arrhythmia, coronary artery disease and valvular heart disease while arterial occlusion by embolism can be shown on a narrowed artery related with systemic atherosclerosis. Because the treatment options depend on the underlying cause of the acute ischemic foot, it is important to identify the cause of acute ischemic foot. At this paper, we reported a case that the cause of acute ischemic foot of the patient proved paroxysmal atrial fibrillation after some diagnostic tests.
Amputation ; Arrhythmias, Cardiac ; Arteries ; Atherosclerosis ; Atrial Fibrillation ; Coronary Artery Disease ; Diagnostic Tests, Routine ; Embolism ; Embolism and Thrombosis ; Foot ; Heart Diseases ; Heart Valve Diseases ; Humans ; Ischemia ; Leg ; Lower Extremity ; Physicians, Family ; Thrombosis

No abstract available.
Bone Marrow* ; Humans ; Leukemia* ; Peripheral Blood Stem Cell Transplantation*

BACKGROUND: As aging occurs, the skin develops more wrinkles and pigmentation, becomes drier, and loses its elasticity. In previous reports, light-emitting diode (LED) phototherapy was proven to stimulate collagen synthesis and accelerate fibroblast-myofibroblast transformation, which has a composite rejuvenation effect. OBJECTIVE: To evaluate the effectiveness and safety of LED phototherapy with 592 nm yellow light for photoaged skin. METHODS: Forty patients with photoaged skin (Korean photographic scale; grade 4approximately7) were enrolled and treated with an LED device producing 592+/-10 nm yellow light for 5 minutes twice a week for 4 weeks. The skin changes were assessed at 0, 2, 4, and 8 weeks by clinical photographs and the Cutometer(R) & Mexameter(R) (MPA 580, Courage+Khazaka Electronic GmbH, Koln, Germany). Measurements were made on the cheek, periorbital area, nasolabial fold, and glabella. RESULTS: At the final visit at 8 weeks, the Cutometer(R) parameters R4 and R6 decreased significantly compared to before treatment, from 0.118 to 0.099 for the periorbital (p=0.017) and 0.517 to 0.425 for the nasolabial fold (p=0.003). The average melanin index decreased significantly, from 133.65 to 124.55 (p<0.005). Fine improvement of wrinkles was shown grossly by reviewing follow-up clinical photographs. No adverse reactions occurred. LED phototherapy with 592+/-10 nm wavelength can be effective and safe in the treatment of photoaged skin. CONCLUSION: The findings suggest the LED with 592 nm yellow light might be an adjuvant therapeutic tool for photoaged skin.
Aging ; Cheek ; Collagen ; Elasticity ; Follow-Up Studies ; Humans ; Melanins ; Nasolabial Fold ; Phototherapy ; Pigmentation ; Rejuvenation ; Skin*

BACKGROUND: Carbon monoxide (CO) is a cytoprotective and homeostatic molecule with important signaling capabilities in physiological and pathophysiological situations. CO protects cells/tissues from damage by free radicals or oxidative stress. NAD(P)H:quinone oxidoreductase (NQO1) is a highly inducible enzyme that is regulated by the Kelch-like ECH-associated protein 1 (Keap1)/nuclear factor erythroid 2-related factor 2 (Nrf2)/antioxidant response element (ARE) pathway, which is central to efficient detoxification of reactive metabolites and reactive oxygen species (ROS). METHODS: We generated NQO1 promoter construct. HepG2 cells were treated with CO Releasing Molecules-2 (CORM-2) or CO gas and the gene expressions were measured by RT-PCR, immunoblot, and luciferase assays. RESULTS: CO induced expression of NQO1 in human hepatocarcinoma cell lines by activation of Nrf2. Exposure of HepG2 cells to CO resulted in significant induction of NQO1 in dose- and time-dependent manners. Analysis of the NQO1 promoter indicated that an antioxidant responsible element (ARE)-containing region was critical for the CO-induced Nrf2-dependent increase of NQO1 gene expression in HepG2 cells. CONCLUSION: Our results suggest that CO-induced Nrf2 increases the expression of NQO1 which is well known to detoxify reactive metabolites and ROS.
Carbon Monoxide ; Cell Line ; Free Radicals ; Gene Expression ; Heme Oxygenase-1 ; Hep G2 Cells ; Humans ; Luciferases ; Oxidative Stress ; Reactive Oxygen Species ; Response Elements

Patients with Crowned dens syndrome typically present with severe neck pain and have calcification around the axial odontoid process on radiographs. To our knowledge, Crowned dens syndrome is unreported in the Korean literature and the clinical features remain unclear. We present Crowned dens syndrome as a cause of acute cervical pain and review the literature.
Crowns ; Humans ; Neck Pain ; Odontoid Process

Tuberous sclerosis is a rare disease, which occurs sporadically or hereditarily and is recognized by its neurological and dermatological manifestations and may be accompanied with renal anomalies. The classical triad is composed of seizure, mental retardation and adenoma sebaceum on face. We experienced two cases of tuberous sclerosis in sporadic forms by mutation without any familial history which suggests the diseases were occurred by mutation rather than by autosomal dominant inheritance. In the first case, a 24-year-female patient with hypertension and abnormal renal function tests which were noted on the routine prenatal check at 32 weeks of gestation delivered normally at 37 weeks. The daughter of patient had seizure when she was 6 years old and was diagnosed as polycystic kidney disease by abdominal computed tomography. This case developed sporadic form of disease without familial history but, the daughter of patient might inherited by autosomal dominant form. The patient's clinical feature was characterized by history of epilepsy, painless abdominal mass due to polycystic kidney disease, abnormal renal function, skin abnormalites including angiofibroma and shagreen patch. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidney. In second case, the patient was a 32-year-female patient complaining of 5kg weight gain, abdominal distension due to palpable masses. Her clinical feature was characterized by bilateral huge renal angiomyolipoma with normal renal function and skin abnormality such as erythematous papule on the face. Abd CT and MRI revealed huge angiomyolipoma of about 15cm X 18.5cm X 30cm and 14.5cm X 18cm X 30cm respectively. We presented the two cases with brief review of the literatures.
Angiofibroma ; Angiomyolipoma ; Child ; Epilepsy ; Humans ; Hypertension ; Intellectual Disability ; Kidney ; Magnetic Resonance Imaging ; Nuclear Family ; Polycystic Kidney Diseases ; Pregnancy ; Rare Diseases ; Seizures ; Skin ; Skin Abnormalities ; Tuberous Sclerosis* ; Weight Gain ; Wills

BACKGROUN: Despite improvements in immunosuppressive therapy for use in renal transplantation, acute graft rejection remains a risk factor of chronic rejection and a major cause of graft loss and patient death. Recently, daclizumab, an anti IL-2 receptor monoclonal antibody has been shown to reduce the incidence of acute rejection. METHODS: To investigate the immunosuppressive effect of daclizumab and the incidence of acute rejection, we administered daclizumab intravenously (1 mg/kg of body weight within 24 hours before transplantation and once every other week afterward, for a total of 5 doses) in combination with cyclosporine microemulsion (CsA), steroid and mycophenolate mofetil (MMF) to 68 transplant recipients RESULTS: Among them 62 were undergoing their first transplantation and 6 were undergoing their second transplantation. 32 patients received living-related transplants and 36 patients received living-unrelated transplants: their HLA match were as follows:1 case with 1 Ag match, 13 cases with 2 Ag matches, 18 cases with 3 Ag matches, 3 cases with 4 Ag matches, 1 case with 5 Ag matches. The clinical characteristics of patients treated with daclizumab were as follows: 42 were male, 26 were female; the mean age of recipients was 42.94 +/- 11.2 years and that of donor was 34.1 +/- 9.9 years. The underlying renal diseases were glomerulonephritis (n=47), reflux nephropathy (n=6), diabetic nephropathy (n=12), polycystic kidney disease (n=2) and acute renal failure (n=1). During the observed period (17.41 +/- 4.34 months; min. 6 months, max. 26 months), 2 cases had acute rejection in the third month after transplantation and 1 case in the 6th month after transplantation, 1 case in the 24th month after transplantation (4/68, 5.8%). In the historical control, 20.8% of acute rejection (10/48) were noted in CsA, MMF and steroid regimen group and 36% of acute rejection (22/60) in CsA, azathioprine and steroid group. Serum creatinine level was 1.21 +/- 0.23, 1.31 +/- 0.25, 1.35 +/- 0.28 and 1.34 +/- 0.31 (mg/dL) during the 1st, 3rd, 6th month and 1 year after transplantation respectively. 10 patients developed herpes-zoster infection and 6 patients had CMV infection. 1 patient expired due to CMV pneumonitis on the 3 months after transplantation. The 2-year graft survival rate was 98.5% with daclizumab and 45 months graft survival rates were 92.9% and 89.3% for MMF group and azathioprine group respectively. CONCLUSION: Daclizumab, used in combination with CsA, MMF and steroid, reduced acute rejection episodes without serious short term side effects. Further observation is needed to evaluate the graft survival rate and uncover any long-term side effects.
Acute Kidney Injury ; Azathioprine ; Body Weight ; Creatinine ; Cyclosporine ; Diabetic Nephropathies ; Female ; Glomerulonephritis ; Graft Rejection ; Graft Survival ; Humans ; Incidence ; Kidney Transplantation* ; Male ; Pneumonia ; Polycystic Kidney Diseases ; Receptors, Interleukin-2 ; Risk Factors ; Tissue Donors ; Transplantation ; Transplants

PURPOSE: Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked recessive disease caused by the mutation of dystrophin gene. Since the majority of mutations are deletions, recent diagnosis is made by the moleculargenetic tools. The authors summarized the clinical characteristics, and analyzed the moleculargenetic and immunohistochemical characteristics of DMD/BMD. METHODS: We reviewed the clinical and laboratory findings of 69 patients diagnosed as DMD/BMD from 1989 to 2000. Multiplex PCR using 26 primer sets was performed on 34 cases, and immunohistochemical staining using dystrophin antibody was done on 5 cases. Mutation profile and phenotype-genotype relationship were analyzed. RESULTS: 1) Mean age of onset was 3 years and 6 months. The presenting symptoms were motor weakness of the lower extremities, incidentally found elevated hepatic enzyme level, abnormal gait and motor developmental delay. Forty one percent had history of motor developmental delay, and most patients showed pseudohypertrophic calf muscles. Mean serum creatine kinase level was 11,232IU/L, and 44% revealed abnormal electrocardiogram. 2) All of the 63 cases showed typical histological findings of muscular dystrophy. Of the 5 cases with immunohistochemical staining, 2 showed complete (DYS1, 2 and 3) and 3 showed partial (DYS3) absence pattern. 3) Of the 34 cases on which multiplex PCR was performed, 14 showed deletions, and 11 of them had deletions between exon 44 and 55. CONCLUSION: Since the deletions were detected in less than 50% of the patients with multiplex PCR, tools for dystrophin protein expression must be combined for the correct diagnosis. Considering the invasiveness of muscle biopsy, we conclude immunohistochemistry should be followed in the cases with negative results in multiplex PCR, although moleculargenetic study is the primary diagnostic tool.
Age of Onset ; Biopsy ; Creatine Kinase ; Diagnosis* ; Dystrophin ; Electrocardiography ; Exons ; Gait ; Humans ; Immunohistochemistry ; Lower Extremity ; Multiplex Polymerase Chain Reaction ; Muscles ; Muscular Dystrophies* ; Polymerase Chain Reaction