ABSTRACT
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an autosomal-dominant disorder involving the cerebral, retinal, renal, and other systemic microvessels due to frameshift mutations in the TREX1 gene. Under physiological conditions, the TREX1 protein is localized in the cellular cytoplasm and perinuclear area, but translocates into the nucleus in response to oxidative DNA damage. It has been speculated that aberrant localization of the protein may be associated with systemic microangiopathy in patients with RVCL. However, cellular expression of TREX1 in the brain and visceral organs of patients with RVCL has been unclear. Here, we report the clinicopathologic features of an autopsied patient with a heterozygous T249fs mutation in TREX1. The patient showed the clinical phenotype of vasculopathy with retinopathy, nephropathy, and stroke. CT with contrast enhancement demonstrated a tumorous lesion in the subcortical white matter. Histologically, the lesion consisted of confluent foci of necrosis with calcification and fibrous thickening of small vessel walls. TREX1 immunohistochemistry demonstrated positivity in the nuclei of cells in the CNS and visceral organs, indicating aberrant localization of the truncated protein, and the expression was remarkable in oligodendrocytes within the lesion, suggesting possible involvement of the protein in the pathomechanism of vasculopathy leading to white matter degeneration.
Subject(s)
Exodeoxyribonucleases/genetics , Hereditary Central Nervous System Demyelinating Diseases/genetics , Hereditary Central Nervous System Demyelinating Diseases/pathology , Phosphoproteins/genetics , Retinal Diseases/genetics , Retinal Diseases/pathology , Vascular Diseases/genetics , Vascular Diseases/pathology , Adult , Autopsy , Frameshift Mutation , Heterozygote , Humans , MaleABSTRACT
In order to meet the needs for medical care after discharge from hospital of serious or intractable neurological disease patients, in 1978, Shinrakuen Hospital in Niigata City launched the Continuing Medical Care Section providing home visit by doctors and periodical home nursing. In the article published in 1990 reporting the 13-year practice of this section, the author advocated the necessity of the across-the-board and continuing regional care system in support of homecare and proposed a desirable model. Since then, with the policy shift from hospital care to homecare facing the progress of aging society, various homecare services have been developed. The author opened in 1997 an organized clinic of internal and neurological medicine in Niigata City, and, on the basis of long term care insurance program founded in 2000, put into practice the homecare system of cooperation between the prefectural and municipal administration, medicine and nursing. In this article, based on her article in 1990, the author adds the report on the development of this regional care system and evaluates the efficacy of homecare supported by regional system in intractable neurological disease medical care.
Subject(s)
Community Health Services , Delivery of Health Care , Home Care Services , Nervous System Diseases/nursing , Aged , Community Health Nursing , Female , Humans , Japan , Long-Term Care , Male , Middle Aged , Nervous System Diseases/rehabilitation , Patient Care Team , Severity of Illness IndexABSTRACT
In 1965 I became a member of the newly-established department of neurology in Brain Research Institute of Niigata University. One of the most important theme for clinical neurologist was to offer medical care after discharge from hospital for serious or intractable neurological disease patients who would soon become unable to come to outpatient clinic. In 1978 Shinrakuen hospital in Niigata City launched the Continuing Medical Care Section providing home visit by doctors and periodical home nursing for medically dependent homecare patients. The stuff of that section started home care program for TPPV patient suffering from ALS from 1987. In 1990, they promoted with the members of Japan ALS Association the establishment the public rental system of Niigata prefecture of ventilator and the accessory medical instruments. They also collaborated with the stuff of the city office to establish the liaison conference for care of the intractable disease patients in Niigata City, which resulted in improvement of education and produced many useful system. The author opened in 1997 an organized clinic of internal and neurological medicine and on the basis of long term care insurance program in 2000 put into practice the home care system of cooperation between municipal administration, medicine and nursing.
Subject(s)
Home Care Services/organization & administration , House Calls , Nervous System Diseases/nursing , Neurology , Physician's Role , Aged , Caregivers , Community Health Services/organization & administration , Female , Humans , Insurance, Long-Term Care , Japan , Male , Patient Discharge , Respiration, ArtificialABSTRACT
The AGAMOUS (AG) family of MADS-box genes plays important roles in controlling the development of the reproductive organs of flowering plants. To understand the molecular mechanisms behind the floral development in the orchid, we isolated and characterized two AG-like genes from Phalaenopsis that we denoted PhalAG1 and PhalAG2. Phylogenetic analysis indicated that PhalAG1 and PhalAG2 fall into different phylogenetic positions in the AG gene family as they belong to the C- and D-lineages, respectively. Reverse transcription-polymerase chair reaction (RT-PCR) analyses showed that PhalAG1 and PhalAG2 transcripts were detected in flower buds but not in vegetative organs. Moreover, in situ hybridization experiments revealed that PhalAG1 and PhalAG2 hybridization signals were observed in the lip, column, and ovule during the floral development of Phalaenopsis, with little difference between the expression patterns of the two genes. These results suggest that both AG-like genes in Phalaenopsis act redundantly with each other in floral development.
