Xeroderma pigmentosum is autosomal recessive, degenerative disease generated by abnormal repair of DNA damaged by ultraviolet radiation and environmental mutagens. DeSanctis-Cacchione syndrome is the most severe form of xeroderma pigmentosum variant. This syndrome is characterized with microcephaly, progressive mental retardation and deterioration, retarded growth and sexual development, sensorineural deafness, and cerebellar ataxia, choreoathetsis, quadriparesis. We describe the case of a 17 year old female patient, which fits into Desanctis-Cacchione syndrome clinically.
Adolescent ; Cerebellar Ataxia ; Deafness ; DNA ; Female ; Humans ; Intellectual Disability ; Microcephaly ; Mutagens ; Quadriplegia ; Sexual Development ; Xeroderma Pigmentosum

No abstract available.
Child* ; Humans ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pneumonia* ; Pneumonia, Mycoplasma*

No abstract available.
Carcinoma, Hepatocellular*

BACKGROUND: Leukocytes, both polymorphonuclear leukocytes(PMNL) and monocytes/macrophages have been implicated in the pathogenesis of the cerebral ischemia and stroke. Neutrophils accumulate in post-hypoxic-ischemic neonatal rat brain prior to the evolution of necrosis and neutrophil depletion attenuates hypoxic-ischemic brain injury. However, the mechanisms leading to post-hypoxic-ischemic neutrophil accumulation are unknown yet. We hypothesized that Intercellular Adhesion Molecule-1 might mediate post-hypoxic-ischemic injury in the immature brain; thus, we evaluated ICAM-1 gene expression in post-hypoxic-ischemic neonatal(postnatal day 7) rat brain. METHODS: Neonatal rats(n=36) underwent right carotid ligation followed by exposure in 8% O2 for 2.5 hours; this procedure typically produces ipsilateral striatal, hippocampal and cortical infarction. Control groups are included by carotid ligation alone, hypoxia alone, and neither hypoxia nor ligation. For RNA extraction, rats were killed 0, 1, 2, 4, 8, 12, 24 and 48 h post- hypoxia-ischemia and RT-PCR was carried out. RESULTS: ICAM-1 mRNA was barely detected in the controls including normal and sham operated animals. In the cortex, striatum and hippocampus, ICAM-1 mRNA was significantly induced in the ipsilateral(right) side compared to the contralateral(left) side just after hypoxia-ischemia. The elevated ICAM-1 mRNA gradually reached a peak at 4 or 8 h and then decreased to an almost basal level by 24 to 48 h. In contrast, the less pronounced contralateral(left-sided) ICAM-1 mRNA expression appeared to peak earlier, within 2 h post-hypoxia-ischemia. CONCLUSION: The temporal profiles of post-hypoxic-ischemic ICAM-1 mRNA expression are consistent with a role in post-hypoxic-ischemic neutrophil recruitment and in the evolution of subsequent brain injury.
Animals ; Anoxia ; Brain Injuries* ; Brain Ischemia ; Brain* ; Gene Expression ; Hippocampus ; Infarction ; Intercellular Adhesion Molecule-1* ; Leukocytes ; Ligation ; Necrosis ; Neutrophil Infiltration ; Neutrophils ; Rats* ; RNA ; RNA, Messenger* ; Stroke

No abstract available.
Cholesterol* ; Triglycerides*

PURPOSE: Recent neonatal care unit survival rates have improved. These increasing survival rates have resulted in increased neurologic disorders. So we investigated the sorts and frequency of neurologic disorders at neonatal intensive care unit, association between gestational age and birthweight, neonatal mortality and tendency of neurologic disorders in survivors. METHODS: Retrospective reviews were made on 156 cases with one or more neurologic disorder of 1,399 neonates, who were admitted to the neonatal intensive care unit, Soonchunhyang Hospital from January 1997 to December 2001. Neurologic disorders were categorized into five groups:intraventricular hemorrhage, neonatal seizures, hypoxic- ischemic encephalopathy, central nervous system infection and central nervous system congenital malformations and chromosomal aberrations. RESULTS: Over the study period, 156 cases with neurologic disorders had a total of 193 neurologic disorders. The frequency of neurologic disorders increased from 3.2% in 1997 to 11.5% in 2001, while the neonatal mortality rates in intensive care unit have declined from 4.8% in 1997 to 3.7% in 2001. In 156 neonates, 134 had intraventricular hemorrhage, 28 had seizures, 24 had hypoxic-ischemic encephalopathy, 2 had central nervous system infections and 5 had congenital central nervous system malformation and chromosomal aberration. Frequencies of intraventricular hemorrhage and seizure has increased, but, that of hypoxic-ischemic encephalopathy has not changed, for the 5 years. CONCLUSION: Neonatal intensive care unit survival rates have improved for 5 years, but, the neurologic morbidity rates have increased. Because neurologic disorders have great influence on the long-term neurologic disability, early detection and treatment of neurologic disorders is important.
Brain Ischemia ; Central Nervous System ; Central Nervous System Infections ; Chromosome Aberrations ; Gestational Age ; Hemorrhage ; Humans ; Hypoxia-Ischemia, Brain ; Infant ; Infant Mortality ; Infant, Newborn ; Intensive Care Units ; Intensive Care, Neonatal* ; Nervous System Diseases* ; Retrospective Studies ; Seizures ; Survival Rate ; Survivors

No abstract available.

Cognition is a broad term that include a range of abilities such as memory, perception, attention, organization, planning, problem solving abilities and the perception of another person's unconscious motivation. Cognitive dysfunction is an abnormality of the central nervous system, manifest during the developmental period, which result significant life long impairment. The neurologic assessment of the delayed or retarded child emphasizes the several points of practice: the accurate diagnosis of type of dysfunction: assessment of underlying etiology: and refferal to proper appropriate rehabilitation and support services coupled with ongoing management of physical and psychosocial needs. I describe the mental retardation, speech and language disorders and learning disabilities include ADHD.
Central Nervous System ; Child* ; Cognition ; Diagnosis ; Humans ; Intellectual Disability ; Language Disorders ; Learning Disorders ; Memory ; Motivation ; Problem Solving ; Rehabilitation

No abstract available.
Headache*

No abstract available.
Dermatomyositis*