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

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.
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*

Acute transverse myelitis (ATM) in most patients is characterized by an abrupt onset of progressive weakness and sensory disturbance in the lower extremities with a preceding viral infection such as Epstein-Barr, herpes simplex, influenza, mumps and Varicella-zoster viruses (VZV). Although less frequent, some residual deficits including bladder dysfunction or weakness in the lower extremities may follow ATM, from which recovery usually begins within the first week of the onset of symptoms. In this report, we describe the case of a 9-year-old girl who experienced ATM following chickenpox and had bladder dysfunction as a sequela.
Chickenpox ; Child ; Herpes Simplex ; Herpesvirus 3, Human ; Humans ; Influenza, Human ; Lower Extremity ; Methylmethacrylates ; Mumps ; Myelitis, Transverse ; Polystyrenes ; Urinary Bladder

Neonatal seizures are the most common and distinctive clinical sign of prenatal and/or neonatal brain disorders. Newborn infants with seizures are at risk of mortality and survivors at risk for neurologic impairment, developmental delay, and subsequent epilepsy. Fifteen reports on neonatal seizures in Korea from 1983 to 2009 were analyzed. A total of 731 neonatal seizure cases were reported. Day of seizure onset, etiology, type of seizures, electroencephalogram findings, and outcomes were analyzed. It is necessary to establish a basic report for a future nationwide study of neonatal seizures.
Brain Diseases ; Electroencephalography ; Epilepsy ; Humans ; Infant, Newborn ; Korea ; Seizures ; Survivors

PURPOSE: Benign Convulsions with mild Gastroenteritis(CwG) were first reported in Japan by Morooka in 1982. The condition is recognized as a distinct clinical entity. It is characterized by previously healthy infants and young children aged 6 months to 3 years having afebrile brief generalized tonic-clonic convulsions between the first and the fifth sick days of viral gastroenteritis usually in winter. The patients are less than 5% dehydrated and the seizures tend to occur repetitively over several days with no eleptic discharges in the interictal electroencephalograms. The tests for rotavirus antigens in stool are frequently positive and other laboratory results are normal including cerebrospinal fluid, serum electrolytes and blood glucose. Also, they are known to have a good prognosis. The study intends to compare the clinical symptoms of CwG with normal body temperature and with high body temperature because mild gastroenteritis can induce fever. METHODS: The subjects were 42 patients diagnosed as GwG, who were admitted to Soonchunhyang University Hospital from May 2003 to March 2006. A Cohort study was performed and their characteristics were examined in terms of frequency, sex, age, monthly distribution, body temperature, days in hospital, seizure tups and duration, number of convulsions in one gastroenteritis period, family history, past history, and other symptoms of gastroenteritis RESULTS: The Total number of patients with gastroenteritis in the period were 635 and only 42(6.6%) patients were diagnosed as CwG. The mean age was 17.1+/-4.7 months, and it commonly occurs in winter. the typical symptoms of gastroenteritis were vomiting and diarrhea with 34(81.0%) patients having both symptoms simultaneously. Less vomiting and more diarrhea were noticed after seizure. Rotavirus antigens were positive in 18(51.4%) patients, and the number of seizures was 2.0+/-1.3 times during one gastroenteritis period. There were found no statistical differences in age, sex, days in hospital, seizure types and duration in those groups with and without fever and of pisitive and negative rotavirus antigens. CONCLUSION: CwG was defined as nonfebrile convulsions with gastroenteritis until nowadays, but there are no statistical differences between febrile and nonfebrile CwG. Therefore, febr ile seizures with gastroenteritis can be included in the same category of CwG.
Blood Glucose ; Body Temperature ; Cerebrospinal Fluid ; Child ; Cohort Studies ; Diarrhea ; Electroencephalography ; Electrolytes ; Fever ; Gastroenteritis* ; Humans ; Infant ; Japan ; Prognosis* ; Rotavirus ; Seizures* ; Sick Leave ; Vomiting

No abstract available.
Headache*

No abstract available.