ABSTRACT
Corpora amylacea (CA) are glycoproteinaceous inclusions that accumulate in the human brain during normal aging and neurodegenerative diseases. Although it has been suggested that the cellular sources of CA are neuronal or glial, the mechanisms underlying CA formation remain controversial. The aim of this study was to identify the source of CA in the human brain. Sample of the human brain tissues were obtained from the cadavers. H-E stain, periodic acid-Schiff (PAS) stain, and immunohistochemistry were performed in the brain tissues. Experimental induction of CA was also performed in rats. CA have been found in large numbers in the superficial, rather than in the deep, layer of the white matter in the lateral ventricle that is in contact with the cerebrospinal fluid (CSF) and sometimes near the blood vessels. Destroyed choroid plexi with psammoma bodies have been observed in the lateral ventricle of aged brains containing substantial numbers of CA. The cores of CA were mainly composed of amorphous PAS-positive materials, and glial fibrillary acidic protein-positive astrocytic processes were attached to the surface of the CA. Weak MAP2 was detected on a few CA in the gray matter such as dentate gyrus. PAS-positive CA were located on the border of the hippocampus contacting the CSF in the lateral ventricle in the cysteamine-induced CA animal model. Taken together, main cellular source of CA is astrocytes and CA core formation may be associated with CSF in the aged human brain.
Subject(s)
Aged , Animals , Humans , Aging , Astrocytes , Blood Vessels , Brain , Cadaver , Choroid , Choroid Plexus , Dentate Gyrus , Hippocampus , Immunohistochemistry , Lateral Ventricles , Neurodegenerative Diseases , NeuronsABSTRACT
PURPOSE: Periventricular leukomalacia(PVL) is the most important cause of cerebral palsy in premature infants. However, there are relatively few studies demonstrating the correlation between ultrasound findings and neurologic outcomes of low-birth-weight infants. To clarify the situation, we analyzed ultrasound findings and neurologic outcomes of many infants with periventricular leukomalacia. METHODS: Our study includes 36 infants with PVL, born in Chungnam National University Hospital, from October 1998 to December 2001. 25 infants with bilateral PVL were compared with 11 infants with asymmetric PVL. For a period of 12 to 48 months, the children were evaluated with neurologic assessments. RESULTS: In infants with bilateral lesions, 88%(22/25) of them had evidence of cerebral palsy. 16 children had spastic quadriplegia and others had spastic diplegia. 7 children with unilateral lesions were free of motor sequele at follow up. Other neurologic handicaps(mental retardation, opthalmologic abnormality or epilepsy) were not related with the symmetry or sizes of the lesions. CONCLUSION: In this study, unfavorable neurologic outcomes of bilateral PVL are confirmed. Therefore, every effort should be made to prevent the development of periventricular leukomalacia as well as not to miss the diagnosis. In addition, if there are any small lesions, regular neurologic assessments and early start of rehabilitation programs should be done.
Subject(s)
Child , Humans , Infant , Infant, Newborn , Cerebral Palsy , Diagnosis , Follow-Up Studies , Infant, Low Birth Weight , Infant, Premature , Leukomalacia, Periventricular , Quadriplegia , Rehabilitation , UltrasonographyABSTRACT
Sick sinus syndrome(SSS) constitutes a spectrum of cardiac arrhythmia, including sinus bradycardia, sinus pause-arrest, sinoatrial block, slow escape rhythm, bradyarrhythmia and tachyarrhythmia. SSS is relatively uncommon in children but its exact incidence is unknown because diagnostic criteria are not uniform and most children with SSS, in general are asymptomatic. SSS may be primary(organic sinus node disease) or secondary(cardiac surgery comprises much of SSS in children and adolescents), but it can hardly be caused by familial relations as well. We reports an occurrence of familial sick sinus syndrome. Mother was diagnosed as SSS, which was presented by symptoms of dizziness and treated by permanent pacemaker(DDD). Also, two daughters revealed SSS with non- compacted cardiomyopathy on neonatal screening and fetal echocardiography respectively. We concluded that familial SSS may occur, so familial screening should be suggested.
Subject(s)
Child , Humans , Infant, Newborn , Arrhythmias, Cardiac , Bradycardia , Cardiomyopathies , Dizziness , Echocardiography , Incidence , Mass Screening , Mothers , Neonatal Screening , Nuclear Family , Sick Sinus Syndrome , Sinoatrial Block , Sinoatrial Node , Tachycardia , United NationsABSTRACT
The most common form of genetic nephrogenic diabetes insipidus(NDI), a rare inherited disorder, is congenital and is transmitted in an X-linked recessive mode. It is refractory to the antidiuretic effect of normal to moderately increased levels of plasma arginine vasopressin(AVP) but, in some cases, may respond to high levels of the hormone or its analogue, deamino-D-arginine vasopressin(DDAVP). X-linked congenital NDI has now been linked to over 128 different mutations in diverse coding regions of the AVP receptor 2(AVPR2) gene. The functional effects of these mutations vary from complete loss of responsiveness to a simple shift to the right in the dose response curve. We report a case of congenital partial NDI, with transversion of A to G at codon 280 of the AVPR2 gene, resulting in a subsequent change of amino acid from tyrosine to cysteine, and that has been effective with hydrochlorothiazide and high dose of DDAVP.