Alzheimer's disease(AD) is associated with a characteristic neuropathology. The major hallmarks of AD are senile plaques(SPs) and neurofibrillary tangles(NFTs). beta-amyloid protein(Abeta) is derived from the proteolysis of amyloid precursor protein(APP) and then converted to SPs. Mature SPs produce cytotoxicity through direct toxic effects and activation of microglia and complement. NFTs are composed of paired helical filaments(PHFs) including abnormally phosphorylated form of the microtubule-associated protein(MAP) tau and increased tau level in cerebrospinal fluid may be observed in most AD. The aggregation of Abeta and tau formation are thought to be a final common pathway of AD. Acetycholine, dopamine, serotonin, GABA and their receptors are associated with AD. Especially, decreased nicotinic acetylcholine receptors(nAChRs) in AD are reported. Genetic lesions associated with AD are mutations in the structural genes for the APP located on chromosome 21, presenilin(PSN)1 located on chromosome 14 and PSN2 located on chromosome 1. Also, trisomy 21, Apo-E gene located on chromosome 19, PMF locus, low density lipoprotein receptor-related protein and alpha-macroglobulin increase risk of AD. In this article, we will review about the neurobioloby of AD and some newly developed research areas.
Acetylcholine ; Alzheimer Disease* ; Amyloid ; Amyloid beta-Peptides ; Apolipoproteins E ; Cerebrospinal Fluid ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 19 ; Chromosomes, Human, Pair 21 ; Complement System Proteins ; Dopamine ; Down Syndrome ; gamma-Aminobutyric Acid ; Genetics ; Lipoproteins ; Microglia ; Neurobiology* ; Proteolysis ; Serotonin

No abstract available.
Aged* ; Femur* ; Humans

Xanthoma is a relatively rare soft tissue lesion on the Achilles tendon and is usually associated with hyperlipidemia (lipid metabolism abnormality), mental retardation, cataract and atherosclerotic disease. We report on a case of normolipidemic bilateral Achilles tendon xanthoma without any notable cause. We herein describe the case where we achieved a satisfactory result by subtotal resection.
Achilles Tendon* ; Cataract ; Humans ; Hyperlipidemias ; Intellectual Disability ; Metabolism ; Xanthomatosis*

Alpasia cutis congenita is an anomaly characterized by absence of localized areas of the integument. The most common type of aplasia cutis congenita is Aplasia cutis congenita limited to the scalp, although other areas of the body may also be involved. We experienced a case of aplasia cutis congenita in a male newborn infant. The skin defects were extensive with symmetrical involvement of lower extremities. The multiple bullae were found on the both fingers and toes. No similar conditions and other associated congeital anomalies were found in the family membes of this particular case. The light microscopic examinaton of the denuded skin areas how absence of epidemis and the demis contain atrophic and hypoplastic adnexa. The bullae have a split within the dermis below lamina densa on electron microscopy. The skin defects were healed by supportive therapy for 4weeks.
Dermis ; Ectodermal Dysplasia* ; Epidermolysis Bullosa* ; Fingers ; Humans ; Infant, Newborn ; Lower Extremity ; Male ; Microscopy, Electron ; Scalp ; Skin ; Toes

No abstract available.
Female ; Humans ; Pregnancy* ; Pregnant Women*

No abstract available.
Pregnancy*

No abstract available.
Intestinal Atresia*

No abstract available.
Hand*

No abstract available.
alpha-Fetoproteins* ; Prenatal Diagnosis*

PURPOSE: The ictal perfusion patterns of cerebellum and basal ganglia have not been systematically investigated in patients with temporal lobe epilepsy (TLE). Their ictal perfusion patterns were analyzed in relation with temporal lobe and frontal lobe hyperperfusion during TLE seizures using SPECT subtraction. MATERIALS AND METHODS: Thirty-three TLE patients had interictal and ictal SPECT, video-EEG monitoring, SPGR MRI, and SPECT subtraction with MRI co-registration. RESULTS: The vermian cerebellar hyperperfusion (CH) was observed in 26 patients (78.8%) and hemispheric CH in 25 (75.8%). Compared to the side of epileptogenic temporal lobe, there were seven ipsilateral hemispheric CH (28.0%), fifteen contralateral hemispheric CH (60.0%) and three bilateral hemispheric CH (12.0%). CH was more frequently observed in patients with additional frontal hyperperfusion (14/15, 93.3%) than in patients without frontal hyperperfusion (11/18, 61.1%). The basal ganglia hyperperfusion (BGH) was seen in 11 of the 15 patients with frontotemporal hyperperfusion (73.3%) and 11 of the 18 with temporal hyperperfusion only (61.1%). In 17 patients with unilateral BGH, contralateral CH to the BGH was observed in 14 (82.5%) and ipsilateral CH to BGH in 2 (11.8%) and bilateral CH in 1 (5.9%). CONCLUSION: The cerebellar hyperperfusion and basal ganglia hyperperfusion during seizures of TLE can be contralateral, ipsilateral or bilateral to the seizure focus. The presence of additional frontal or basal ganglia hyperperfusion was more frequently associated with contralateral hemispheric CH to their sides. However, temporal lobe hyperperfusion appears to be related with both ipsilateral and contralateral hemispheric CH.
Basal Ganglia* ; Cerebellum* ; Epilepsy, Temporal Lobe* ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Perfusion ; Seizures ; Temporal Lobe* ; Tomography, Emission-Computed, Single-Photon