A genetic and clinical study was done on 20 index cases and their families who had lived in Chonnam province, visited Chonnam University Hospital from 1968 through 1983, and were diagnosed as peudoxanthoma elasticum based on clinical and histopathological findings. In Chonnam province, pseudoxanthoma elsticum occurred in a incidence of more thar, one per 125,000. The male to female ratio was 1: 1.25 (8: 10) with only the cases of familial occurrence although the sex ratio was 1: l. 85 (7: 13) among 20 index cases. Among 8 index cases showing familial occurrence, 6 showed autosomal recessive inheritance with 5 Type 1 and 1 Type 2 whereas 2 showed the autosomal dominant inheritance with both of thern Type 2 (Pope), pointing out the genetic heterogeneity in pseudoxanthorna elsticum. The age of patients ranged from 12 to 42 years old at the time of their first visit to our hospital, but the age that the patients first recognized the disease onset ranged from 9 to 22 years old. The duration of t he disease was also variable ranging from 11/2 to 30 years. The angioid streaks were observed in 38g of the cases whose disease duration ranged from 11/2 to 20 years. The sites of skin lesions were the neck, axillae and groin in the order of frequency.
Adult ; Angioid Streaks ; Axilla ; Classification ; Female ; Genetic Heterogeneity ; Groin ; Humans ; Incidence ; Jeollanam-do ; Male ; Neck ; Pseudoxanthoma Elasticum* ; Sex Ratio ; Skin ; Wills ; Young Adult

No abstract available.
Bone Transplantation ; Maxilla ; Osteotomy

No abstract available.

No abstract available.
Brain* ; Central Nervous System Diseases* ; Central Nervous System* ; Child* ; Humans

No abstract available.
Brain* ; Central Nervous System Diseases* ; Central Nervous System* ; Child* ; Humans

No abstract available.
Occupations

Panner's disease, osteonecrosis of the capitellum of the elbow, was first reported by Panner in 1927. The disease occurs mainly in boys between 6 and 15 years old and shows unilateral distribution. Pain, stiffness, localized tenderness over the lateral condyle of the elbow, and decreased range of motion are the typical clinical symptoms. Conservative treatment is generally recommended for patients in the early stage of this disease. A few cases of Panner's disease have been reported and few are related to long-term follow-up results. To the best of our knowledge, all reported cases were over six years. Therefore, we report on a five-year-old boy diagnosed as Panner's disease that showed resorption and regeneration of the humeral capitellum with no limitation of motion over three years. The current study was exempted from review by the institutional review board because it was a single retrospective case report. Informed consent was obtained from the patient's guardian.
Child* ; Elbow ; Ethics Committees, Research ; Follow-Up Studies ; Humans ; Informed Consent ; Male ; Osteochondrosis ; Osteonecrosis ; Range of Motion, Articular ; Regeneration ; Retrospective Studies

After surgical operation in patients with arteriovenous malformation (AVM), normal pressure perfusion breakthrough (NPPB) is one of the major complications. Brain perfusion SPECT with acetazolamide stress was known to be useful to evaluate the vascular reserve in several neurological and neurosurgical conditions. The authors performed acetazolamide brain perfusion SPECT in patients with AVM and compared the brain perfusion in the post-operative clinical courses. The acetazolamide brain perfusion SPECT was helpful in defining the prognosis of the patients with AVM. We describe 4 patients with AVM who had acetazolamide brain perfusion SPECT to examine the prognosis.
Acetazolamide* ; Arteriovenous Malformations* ; Brain* ; Humans ; Perfusion* ; Prognosis* ; Technetium Tc 99m Exametazime ; Tomography, Emission-Computed, Single-Photon*

OBJECTIVES: We analyzed gene-expression profiles after 14 day odontogenic induction of human dental pulp cells (DPCs) using a DNA microarray and sought candidate genes possibly associated with mineralization. MATERIALS AND METHODS: Induced human dental pulp cells were obtained by culturing DPCs in odontogenic induction medium (OM) for 14 day. Cells exposed to normal culture medium were used as controls. Total RNA was extracted from cells and analyzed by microarray analysis and the key results were confirmed selectively by reverse-transcriptase polymerase chain reaction (RT-PCR). We also performed a gene set enrichment analysis (GSEA) of the microarray data. RESULTS: Six hundred and five genes among the 47,320 probes on the BeadChip differed by a factor of more than two-fold in the induced cells. Of these, 217 genes were upregulated, and 388 were down-regulated. GSEA revealed that in the induced cells, genes implicated in Apoptosis and Signaling by wingless MMTV integration (Wnt) were significantly upregulated. CONCLUSIONS: Genes implicated in Apoptosis and Signaling by Wnt are highly connected to the differentiation of dental pulp cells into odontoblast.
Apoptosis ; Dental Pulp ; Gene Expression ; Genes, vif ; Humans ; Microarray Analysis ; Odontoblasts ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; RNA

PURPOSE: This study was performed to evaluate the level of I-TAC in tears of patients with dry eye syndrome and its correlation with the tear surface parameters. METHODS: I-TAC levels were measured by enzyme-linked immunosorbent assay (ELISA) in tear samples collected from 33 dry eye patients (16 patients with Sjogren syndrome and 17 patients with non-Sjogren syndrome) and 15 control subjects. The correlations between I-TAC levels and tear surface parameters including tear film break-up time (BUT), basal tear secretion, tear clearance rate (TCR), corneal sensation, keratoepitheliopathy and conjunctival goblet cell density were analyzed. RESULTS: The mean levels of I-TAC were 717+/-377 pg/ml in patients with dry eye and 444+/-119 pg/ml in control subjects (P=0.003). The mean levels in Sjogren syndrome patients (1261+/-324 pg/ml) were significantly higher than those of non-Sjogren syndrome patients (614+/-131 pg/ml, P=0.003). I-TAC levels correlated significantly with basal tear secretion (P=0.006), TCR (P=0.007), keratoepitheliopathy (P=0.022) and goblet cell density (P<0.001), but did not correlate with BUT (P=0.110) and corneal sensation (P=0.090). CONCLUSIONS: The level of I-TAC is elevated in tears of patients with dry eye syndrome including Sjogren syndrome. The level correlates with disease severity and tear surface parameters.
Dry Eye Syndromes ; Enzyme-Linked Immunosorbent Assay ; Eye ; Goblet Cells ; Humans ; Sensation ; Sjogren's Syndrome ; Tears