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*

No abstract available.
Dermatomyositis*

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*

The purpose of this study was to construct model of sexual adjustment in people with spinal cord injury and to determine factors that relate to sexual adjustment using methodological triangulation. A total of 134 persons who were registered members of spinal cord injury organization and admitted rehabilitation unit in the hospital were included in the study. Participants answered questionnaire concerning importance of life events, sexual concern, sexual adjustment. Qualitative data were collected through semi-structured indepth interviews from 10 individuals with spinal cord injury who were previously included in the quantitative study. Constant compatative method was used to analyze the data. The results were as follows: 1) With respect to eleven other areas of life, sex life ranked the sixth and economic status ranked the highest in terms of importance. However social life ranked the lowest among the 11areas. 2) Among seven topics related to sexuality were methods and techniques to achieve sexual satisfaction, and helping a partner cope emotionally with limitation on sexual dysfunction was the second greastest. 3) The mean score for sexual adjustment was 19.47 which can be considered. 4) A process on how individuals with spinal cord injury adjust to their changed sexual life immerged from the qualitative data. It includs 4 stages: 'stage of loss' 'stage of endeavoring' 'stage of effort' and 'stage of adjustment'. Categories showing context for the action/interaction strategies were 'steadiness' and 'rediscovery as a sexual being'. There were three factors which may stimulate the adjustment process while the others may interrupt it. Those factors included personal matters, family matters and social matters. The individuals may follow each stage step by step but may go back to the previous step depending on the outcomes of their adjustment. 5) There were three factors which may stimulate the adjustment process while the others may interrupt it. Those factors included personal matters, family matters and social matters.
Humans ; Surveys and Questionnaires ; Rehabilitation ; Sexuality ; Spinal Cord Injuries* ; Spinal Cord*

Therapeutic irradiation can induce angiosarcoma. Radiation-induced angiosarcoma constitutes 20% of all angiosarcomas. Although its common site of origin is the skin and subcutaneous tissue, it rarely arises in small or large bowels with a presentation as multifocal abdominal angiosarcomatosis. We report a case of intra-abdominal angiosarcomatosis involving the jejunum, ileum, transverse colon, mesentery and right ovary in a 63-year-old female. It developed 10 years after therapeutic irradiation for squamous cell carcinoma of uterine cervix. She developed panperitonitis due to intestinal perforation. She died from sepsis 3 days after segmental resection of the small bowel and right oophorectomy. We reviewed the previously reported cases and describe the clinicopathologic features of this tumor.
Carcinoma, Squamous Cell ; Cervix Uteri ; Colon, Transverse ; Female ; Hemangiosarcoma ; Humans ; Ileum ; Intestinal Perforation ; Jejunum ; Mesentery ; Middle Aged ; Ovariectomy ; Ovary ; Sepsis ; Skin ; Subcutaneous Tissue