Sjogren's syndrome (SS) is an autoimmune disease characterized by a lymphocytic infiltration of the salivary and lacrimal glands leading to a progressive destruction of these glands due to the production of autoantibodies. This disorder is either isolated (primary SS) or associated with other systemic diseases (secondary SS). The occurrence of B-cell non-Hodgkin's lymphoma (NHL) represents the major complication in the evolution of SS patients. The risk of developing NHL, which is equivalent for both primary and secondary SS, was estimated to be 44 times greater than that observed in a comparable normal population. NHLs in SS patients occur preferentially in the salivary glands and in other mucosa-associated lymphoid tissues (MALT). However, it can also occur in the lymph nodes or bone marrow. We documented a case of low-grade B-cell lymphoma of MALT in the right eyelid and primary biliary cirrhosis (PBC) of a patient with SS. To the best of our knowledge, this is the first case reported in Korea.
Case Report ; Eyelid Neoplasms/pathology ; Eyelid Neoplasms/etiology* ; Female ; Human ; Liver Cirrhosis, Biliary/pathology ; Liver Cirrhosis, Biliary/complications* ; Lymphoma, Mucosa-Associated Lymphoid Tissue/pathology ; Lymphoma, Mucosa-Associated Lymphoid Tissue/etiology* ; Middle Age ; Sjogren's Syndrome/pathology ; Sjogren's Syndrome/complications*

Progressive multifocal leukoencephalopathy (PML) is a rare, serious, and usually fatal demyelinating disease that occurs predominantly in severely immunosuppressed patients. The disease is caused by the infection of oligodendrocytes with JC virus that is widely distributed as a latent infection in the general populations. PML has been described mainly in patients infected with the human immunodeficiency virus. However, other immune-suppressed patients including malignancies and organ transplants can be affected with JC virus infection. Recently it is suggested that rheumatologic diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, dermatomyositis, polymyositis, wegener`s granulomatosis be known to be at risk of developing PML. We report a case of PML in a patient with SLE.
Humans

Traumatic rupture of the corpus cavernosum of the penis is rare and has been reported infrequently. We experienced 4 cases of penile fracture for recent 2 years. They occurred during coitus(1 case), masturbation(2 cases), and through blunt trauma(1 case). The former 3 cases were treated with immediate surgical intervention about 12 hours after injury. When the last case patient visited hospital 5 days after injury, the penile abscess treated immediately with surgical intervention had developed. Surgery consisted of complete evacuation of the hematoma or pus and repairing of the tear at the tunica albuginea. The results were excellent, with complete early recovery of erectile function. Delayed wound healing was observed only in a patient who underwent surgery about 5 days after injury, but this did not cause any complication afterward. In our experiences, immediate surgical treatment is recommended in patients with fracture of the penis.
Abscess ; Hematoma ; Humans ; Male ; Penis ; Rupture ; Suppuration ; Wound Healing

BACKGROUND: Malvidin is one of the most abundant components in red wines and black rice. The effects of malvidin on aging and lifespan under oxidative stress have not been fully understood. This study focused on the anti-aging effect of malvidin on stress-induced premature senescence (SIPS) in WI-38 human lung-derived diploid fibroblasts. METHODS: In order to determine the viability of WI-38 cells, MTT assay was conducted, and malondialdehyde level was determined using thiobarbituric acid-reactive substance assay. Protein expression of inflammation-related factors was also evaluated by Western blot analysis. RESULTS: Acute and chronic oxidative stress via hydrogen peroxide (H2O2) treatment led to SIPS in WI-38 cells, which showed decreased cell viability, increased lipid peroxidation, and a shortened lifespan in comparison with non-H2O2-treated WI-38 cells. However, malvidin treatment significantly attenuated H2O2-induced oxidative stress by inhibiting lipid peroxidation and increasing cell viability. Furthermore, the lifespan of WI-38 cells was prolonged by malvidin treatment. In addition, malvidin downregulated the expression of oxidative stress-related proteins, including NF-κB, COX-2, and inducible nitric oxide synthase. Furthermore, protein expression levels of p53, p21, and Bax were also regulated by malvidin treatment in WI-38 cells undergoing SIPS. CONCLUSIONS: Malvidin may potentially inhibit the aging process by controlling oxidative stress.
Aging* ; Blotting, Western ; Cell Survival ; Diploidy ; Fibroblasts* ; Humans* ; Hydrogen Peroxide ; Lipid Peroxidation ; Malondialdehyde ; Nitric Oxide Synthase Type II ; Oxidative Stress ; Wine

Tissue inhibitors of metalloproteinases (TIMPs) are a family of secreted molecules that were identified as natural inhibitors of matrix metalloproteinases (MMPs). Tooth histomorphogenesis and cytodifferentiation are accompanied by rapid changes in cellular organization and remodeling of the extracellular matrix, in which MMPs and TIMPs might be expected to play significant roles. This study examined the expression and localization of TIMP-1 and TIMP-2 during the molar development of rats. The expression patterns of TIMPs were determined from Sprague-Dawley rat pups including the developing molars using RT-PCR, western blot and immunofluorescent staining. Gene and protein quantification analyses showed that both TIMPs increased from the cap stage to the root stage tooth germs. In contrast, the immunofluorescent data showed that they were expressed slight differentially. TIMP-1 was strongly expressed in secretory ameloblasts and moderate immunoreactivity was observed along the basement membrane. TIMP-2 expression was also detected in the basement membrane. Although strong immunoreactivity was observed in the secretory ameloblasts and enamel matrix itself, differentiated odontoblasts showed weak reactivity. However, little reactivity for both TIMPs were detected in the cap stage tooth germs and surrounding tissues. These distinct temporospatial expression patterns of TIMPs suggest that the TIMPs may play a variety of roles including dental hard tissue formation during molar tooth development.
Ameloblasts ; Animals ; Basement Membrane ; Blotting, Western ; Dental Enamel ; Extracellular Matrix ; Humans ; Matrix Metalloproteinases ; Metalloproteases ; Molar ; Odontoblasts ; Rats ; Tissue Inhibitor of Metalloproteinase-1 ; Tissue Inhibitor of Metalloproteinase-2 ; Tooth ; Tooth Germ

Sleep, which is an essential part of human life, is modulated by neurotransmitter systems, including gamma-aminobutyric acid (GABA) and dopamine signaling. However, the mechanisms that initiate and maintain sleep remain obscure. In this study, we investigated the relationship between melatonin (MT) and dopamine D2-like receptor signaling in pentobarbital-induced sleep and the intracellular mechanisms of sleep maintenance in the cerebral cortex. In mice, pentobarbital-induced sleep was augmented by intraperitoneal administration of 30 mg/kg MT. To investigate the relationship between MT and D2-like receptors, we administered quinpirole, a D2-like receptor agonist, to MT- and pentobarbital-treated mice. Quinpirole (1 mg/kg, i.p.) increased the duration of MT-augmented sleep in mice. In addition, locomotor activity analysis showed that neither MT nor quinpirole produced sedative effects when administered alone. In order to understand the mechanisms underlying quinpirole-augmented sleep, we measured protein levels of mitogen-activated protein kinases (MAPKs) and cortical protein kinases related to MT signaling. Treatment with quinpirole or MT activated extracellular-signal-regulated kinase 1 and 2 (ERK1/2), p38 MAPK, and protein kinase C (PKC) in the cerebral cortex, while protein kinase A (PKA) activation was not altered significantly. Taken together, our results show that quinpirole increases the duration of MT-augmented sleep through ERK1/2, p38 MAPK, and PKC signaling. These findings suggest that modulation of D2-like receptors might enhance the effect of MT on sleep.
Animals ; Cerebral Cortex ; Cyclic AMP-Dependent Protein Kinases ; Dopamine ; gamma-Aminobutyric Acid ; Humans ; Hypnotics and Sedatives ; Melatonin ; Mice* ; Mitogen-Activated Protein Kinases ; Motor Activity ; Neurotransmitter Agents ; p38 Mitogen-Activated Protein Kinases* ; Pentobarbital* ; Phosphotransferases ; Protein Kinase C ; Protein Kinases ; Quinpirole*

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.
Capillaries ; Child ; Diagnosis ; Extremities ; Female ; Humans ; Hypertrophy ; Infant ; Korea* ; Megalencephaly ; Neurology ; Polymicrogyria ; Syndactyly

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome that affects ectomesodermal tissues (skin, eyes, adipose tissue, and brain). The neurologic manifestations associated with ECCL are various including seizures. However, ECCL patients very rarely develop brain tumors that originate from the neuroepithelium. This is the first described case of ECCL in combination with dysembryoplastic neuroepithelial tumor (DNET) that presented with intractable seizures. A 7-year-old girl was admitted to our center because of ECCL and associated uncontrolled seizures. She was born with right anophthalmia and lipomatosis in the right temporal area and endured right temporal lipoma excision at 3 years of age. Seizures began when she was 3 years old, but did not respond to multiple antiepileptic drugs. Brain magnetic resonance (MR) imaging performed at 8 and 10 years of age revealed an interval increase of multifocal hyperintense lesions in the basal ganglia, thalamus, cerebellum, periventricular white matter, and, especially, the right temporal area. A nodular mass near the right hippocampus demonstrated the absence of N-acetylaspartate decrease on brain MR spectroscopy and mildly increased methionine uptake on brain positron emission tomography, suggesting low-grade tumor. Twenty-four-hour video electroencephalographic monitoring also indicated seizures originating from the right temporal area. Right temporal lobectomy was performed without complications, and the nodular lesion was pathologically identified as DNET. The patient has been seizure-free for 14 months since surgery. Although ECCL-associated brain tumors are very rare, careful follow-up imaging and surgical resection is recommended for patients with intractable seizures.
Adipose Tissue ; Anophthalmos ; Anticonvulsants ; Basal Ganglia ; Brain ; Brain Neoplasms ; Cerebellum ; Child ; Drug Resistant Epilepsy ; Female ; Follow-Up Studies ; Hippocampus ; Humans ; Lipoma ; Lipomatosis* ; Magnetic Resonance Spectroscopy ; Methionine ; Neoplasms, Neuroepithelial* ; Neurocutaneous Syndromes ; Neurologic Manifestations ; Positron-Emission Tomography ; Seizures* ; Thalamus ; White Matter

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.
Amino Acid Substitution ; Base Sequence ; Cholestasis/*diagnosis ; Ductus Arteriosus, Patent/diagnosis ; Electroencephalography ; Humans ; Infant, Newborn ; Liver/pathology/ultrasonography ; Male ; *Mutation, Missense ; Oxidoreductases Acting on CH-CH Group Donors/*genetics ; Phenotype ; Smith-Lemli-Opitz Syndrome/diagnosis/*genetics

PURPOSE: The purpose of this study was to evaluate the hemodynamic effect of transposition of the great arteries(TGA) on neuro-development by measuring the cerebral metabolites before and 1 year after open heart surgery(OHS) by localized in vivo 1H-magnetic resonance spectroscopy(1H- MRS) along with Bayley scales of infants development II(BSID II). METHODS: Full-term newborns(N=13) with TGA and intact ventricular septum were examined 1H-MRS before OHS. Follow-up MRS and neuro-developmental examination by BSID II were performed in 9 patients at 12 months of age. Normal newborns(N=22) and infants(N=13, ages=9- 36 months) were included for comparison. Image guided STEAM-spectra were obtained from the parietal white matter(PWM) and occipital gray matter(OGM) regions with proton brain examina tion(PROBE). All spectroscopic raw data were processed and the values of the NAA/Cr, Cho/Cr, mI/Cr and NAA/Cho ratios were calculated. RESULTS: The Values of NAA/Cr and NAA/Cho were lower in PWM and OGM, and Cho/Cr and mI/ Cr were higher in OGM from infants with TGA than from normal infants, suggesting that the abnor mal hemodynamics of TGA in fetal life may have influenced neuro-development. The follow-up MRS examinations conducted at 12 months also showed high Cho/Cr and low NAA/Cho in PWM. All abnor mal metabolite ratios from OGM in TGA newborns were normalized by 12 months. The results of BSID II showed relatively delayed mental development, especially language area than psychomotor development. CONCLUSION: The cerebral metabolism in infants with TGA has already been damaged prior to OHS and was not normalized by 12 months. However, the exact cause of the impaired metabolism is still not yet determined from this study; it may be due to the prenatal relative hypoxemia of the brain or OHS itself.
Anoxia ; Arteries* ; Brain ; Follow-Up Studies ; Heart ; Hemodynamics ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Spectroscopy ; Metabolism ; Protons ; Rabeprazole ; Spectrum Analysis* ; Ventricular Septum ; Weights and Measures