We investigated whether the two variant elements of CRE(TGcCGTCA[5'CRE], TGACcTCA[3'CRE]) in the 5'flanking region of the rat TRH gene, which are different from the CRE consensus sequence(5'-TGACGTCA-3') by one base pair, are responsive to cAMP, and whether the one base pair difference is responsible for the degree of cAMP responsiveness of the gene. When CA 77 cells were stimulated with forskolin and isobutylmethylxanthine for 4 hours, the level of TRH mRNA was increased by only two fold. The transient gene expression study using serial 5'deletion of the TRH gene in PC12 cells showed that the region between-113 and-77, which includes 5'CRE, was crucial for the cAMP resonsiveness. When the plasmid, which contains the 30 bp oligonucleotide including either 5'CRE or 3'CRE ligated to the enhancerless RSV promoter, was transfected into PC12 cells, it did not significantly affect not only the basal transcription but cAMP responsiveness. The 65 bp oligonucleotide including both 5'CRE and 3'CRE, however, increased both of the basal transcription and cAMP-stimulated transcription by 2-3 fold. When the sequence of 5'CRE was converted to that of the CRE consensus by replacing one base pair, the cAMP responsiveness was increased by two fold although the basal transcription was not increased. The one base pair mutant of 3'CRE increased both of the basal and cAMP-stimulated transcription by 3-4 fold. These results suggest that there are the two variant CREs in rat TRH gene, which are relatively weak CRE compared to the CREs of other neuropeptide genes and cooperative for the activation of both the basal and cAMP-stimulated transcription. The one base pair difference of the variant CREs from the CRE consensus sequence is responsible for the weak responsiveness to cAMP.
Animals ; Base Pairing ; Colforsin ; Consensus ; Consensus Sequence ; Cyclic AMP ; Gene Expression ; Neuropeptides ; PC12 Cells ; Plasmids ; Rats ; Response Elements ; RNA, Messenger ; Thyrotropin ; Thyrotropin-Releasing Hormone

We present a family of FSP with review of literatures. Seeligmuller (1876) and Strumpell (1880) were the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogenous in inheritance, age of onset, severity and associated signs. A pure type without complications has been named "Strumpell's FSP". We have recently experienced a case of 17 years old male who had bilateral weakness and stiffness of lower extremities, and gait disturbance with family history. Differential diagnosis, particularly with familial amyotrophic lateral sclerosis, is discussed.
Adolescent ; Age of Onset ; Amyotrophic Lateral Sclerosis ; Diagnosis, Differential ; Gait ; Humans ; Lower Extremity ; Male ; Muscle Spasticity* ; Paraplegia* ; Upper Extremity ; Wills

BACKGROUND: The human homologue of the SC2 gene from a human dermal papilla cell cDNA library has been isolated and designated hSC2. HSC2 protein also shares similarity with 5 -reductase, a protein important in testosterone metabolism. OBJECTIVE: Prior to knowing the functions of hSC2 in dermal papilla, we cloned it and analyzed its relative expression levels in adult tissues and cancer cell lines. METHODS: hSC2 was isolated from low abundant clones in dermal papilla cDNA library using cDNA array hibridization method. Full-length clone was sequenced and we studied its expression in different tissues by Northern blot hybridization. RESULTS: Sequence data reveals a single open reading frame, encoding a putative hydrophobic protein with a calculated molecular weight of 36 kDa. Its deduced amino acid sequences are almost 97.4% identical to t4ose of rat protein. Northern blot hybridization shows that hSC2 cDNA recognizes a 1.35 kb transcript that was expressed in various epithelial and mesenchymal tissues including testis and liver. CONCLUSION: We have cloned and analysed tissue distributions of hSC2. It was interesting that it had homology with 5α-reductase isozymes. Further studies will be needed to understand the involvement of hSC2 in androgen hormone signaling.
Adult ; Amino Acid Sequence ; Animals ; Blotting, Northern ; Cell Line ; Clone Cells ; Cloning, Molecular* ; DNA, Complementary ; Gene Library ; Humans ; Isoenzymes ; Liver ; Metabolism ; Molecular Weight ; Oligonucleotide Array Sequence Analysis ; Open Reading Frames ; Rats ; Testis ; Testosterone ; Tissue Distribution

Maffuccis syndrome was first reported by Maffucci, in 1881. This syndrome is manifested by multiple enchondromas and hemangiomas, characterized by non-hereditary mesenchymal neoplasia that has a propensity for malignant transformation. Involvement of long bones, particularly the bones of the hands and feet, is most common. The most important complication of this syndrome is the high frequency of chondr osarcomatous metaplasia. We report a case of Maffuccis syndrome in a 56-year-old woman with multiple hemangioma on both the hands and forearms, left foot and enchondromas of multiple bones. The disease started at the age of 8 and was associated with deformity, but malignant transformation was not found.
Chondroma ; Congenital Abnormalities ; Enchondromatosis ; Female ; Foot ; Forearm ; Hand ; Hemangioma ; Humans ; Metaplasia ; Middle Aged

Urinary cytology has become an essential element in the diagnosis and management of transitional cell carcinoma(TCC) of the urinary tract. It has the advantage of being noninvasive, inexpensive, and easily accessible. Besides that it can even detect malignancy when unsuspected at cystoscopy. We report a retrospective review of urine cytology in the diagnosis of 83 TCC cases that underwent 295 cytologic evaluation. All patients had biopsy-proven TCC of the bladder, ureter and renal pelvis. The overall inci- dence of the positive cytology cases was 66.2%. To define the cytologic features of tumor cells, we tried to use three cytologic gradings such as "grade 1", "grade 2", and "grade 3" according to the cytologic degree of anaplastic neoplastic cells. These cytologic gades of TCC were relatively well correlated with the histologic grade and tumor invasiveness. This result suggests that the recognition of characteristic cellular features of TCC can suspect the histologic grade and tumor stage. The false negative TCC cases were 78.9%. They showed severe inflammatory or bloody background and a few neoplastic cells. Therefore, a cautious approach for accurate interpretation, personal experience, and proper fixation and processing could expand the role of urinary cytology.
Cystoscopy ; Diagnosis ; Humans ; Kidney Pelvis ; Nocturnal Enuresis* ; Retrospective Studies ; Risk Factors* ; Thyroid Gland ; Ureter ; Urinary Bladder ; Urinary Tract

No abstract available.
Flow Cytometry* ; Microscopy*

No abstract available.
Flow Cytometry* ; Microscopy*

Intramedullary myelitis due to bacterial meningitis associated with cervical epidural abscess is very rare. Its cause and clinical features are non-specific, therefore exact diagnosis is often missed or mistaken for other disease and immediate treatment may be delayed. We report a case of intramedullary myelitis due to epidural abscess presented with prominent symptoms of meningitis and manifestations of acute cerebrovacular accident. A 69 -year-old man was admitted due to right hemicranial headache with pain on right posterior neck and febrile sensation. At first, the patient's headache was improved by conservative therapy. Three weeks later, the patient showed abrupt right hemiparesis (MRC grade 2/5) with drowsy mentality. The CSF findings of the patient were compatible with acute bacterial meningitis. Cervical spine MRI showed cervical epidural abscess and extensive intramedullary myelitis from cervical to lumbar spinal cord. After antibiotic therapy, mentality of the patient became to be alert and right hemiparesis was improved to MRC grade 4/5. Follow up cervical spine MRI after several weeks represented that the lesions of cervical epidural abscess and intramedullary myelitis were significantly diminished.
Diagnosis ; Epidural Abscess* ; Follow-Up Studies ; Headache ; Humans ; Magnetic Resonance Imaging ; Meningitis ; Meningitis, Bacterial* ; Myelitis* ; Neck ; Paresis ; Sensation ; Spinal Cord ; Spine

No abstract available.
Renal Replacement Therapy*