Transgenic fluorescent zebrafish lines that have revolutionized biomedical research / 한국실험동물학회지

Since its debut in the biomedical research fields in 1981, zebrafish have been used as a vertebrate model organism in more than 40,000 biomedical research studies. Especially useful are zebrafish lines expressing fluorescent proteins in a molecule, intracellular organelle, cell or tissue specific manner because they allow the visualization and tracking of molecules, intracellular organelles, cells or tissues of interest in real time and in vivo. In this review, we summarize representative transgenic fluorescent zebrafish lines that have revolutionized biomedical research on signal transduction, the craniofacial skeletal system, the hematopoietic system, the nervous system, the urogenital system, the digestive system and intracellular organelles.

Transgenic fluorescent zebrafish lines that have revolutionized biomedical research / 한국실험동물학회지

Since its debut in the biomedical research fields in 1981, zebrafish have been used as a vertebrate model organism in more than 40,000 biomedical research studies. Especially useful are zebrafish lines expressing fluorescent proteins in a molecule, intracellular organelle, cell or tissue specific manner because they allow the visualization and tracking of molecules, intracellular organelles, cells or tissues of interest in real time and in vivo. In this review, we summarize representative transgenic fluorescent zebrafish lines that have revolutionized biomedical research on signal transduction, the craniofacial skeletal system, the hematopoietic system, the nervous system, the urogenital system, the digestive system and intracellular organelles.

A Novel GFAP Mutation in Late-Onset Alexander Disease Showing Diffusion Restriction

No abstract available.

The Overlap between Fibromyalgia Syndrome and Myotonia Congenita

BACKGROUND: Fibromyalgia syndrome (FMS) is a complex disorder characterized by chronic widespread pain (CWP), multiple areas of tenderness, sleep disturbance, fatigue, and mood or cognitive dysfunction. Myotonia congenita (MC) is an inherited myopathic disorder that is caused by mutations in the gene encoding the skeletal muscle chloride channel, which can infrequently manifest as generalized muscle cramps or myalgia. CASE REPORT: The first case was a 33-year-old woman who complained of CWP and chronic headache occurring during pregnancy, and the second case was a 37-year-old man with CWP and depression who suffered from cold-induced muscle cramps. These two patients were initially diagnosed with FMS by rheumatologists, based on CWP of longer than 3 months duration and mechanical tenderness in specific body regions. However, these two FMS patients were subsequently also diagnosed with MC. CONCLUSIONS: These two cases are the first report of an overlap of CWP between FMS and MC.

Cryptic e1a2 BCR-ABL1 Fusion With Complex Chromosomal Abnormality in de novo Myelodysplastic Syndrome

No abstract available.

Clinical Characteristics and Analysis of CLCN1 in Patients with "EMG Disease"

BACKGROUND AND PURPOSE: While the etiology and clinical features of "EMG disease" - which is characterized by diffusely increased insertional activity on needle electromyography (EMG) in the absence of neuromuscular disease - are not well known, some authorities believe it may be a form of myotonia congenita (MC). The aims of this study were to determine the clinical features of EMG disease and its relationship with CLCN1 mutations in patients. METHODS: The detailed clinical and electrophysiological features of EMG disease were evaluated in six patients. All 23 coding exons and exon-intron boundaries in CLCN1 gene were analyzed by direct sequencing to detect nucleotide changes. RESULTS: The common clinical symptoms of EMG disease were chronic muscle stiffness or generalized myalgia, which were aggravated in a cold environment. Four patients complained of action myotonia several times a year. Short trains of provoked positive sharp waves were documented on needle EMG, but myotonic discharges, fibrillation potentials, and fasciculations were not. Increased insertional activity was identified at the asymptomatic muscles studied. One novel heterozygous mutation was identified in one patient following genetic testing for CLCN1 mutations (c.1679T>C, p.Met560Thr). CONCLUSIONS: The clinical features of EMG disease might be quite similar to those of MC, but CLCN1 mutation was found in only one subject. It is thus difficult to accept that EMG disease lies within the phenotypic spectrum of MC. Additional testing is needed to verify the pathogenetic cause of the diffusely increased insertional activity associated with this condition.

Distribution of Adhesion Molecules in Rabiit Cornea with Aspergillus fumigatus Keratitis

In order to help define the possible role of adhesion molecules in corneal inflammation, we investigated the distribution of adhesion molecules in normal and Aspergillus fumigatus keratitis-induced corneas of rabbits in process if time. Each 4 corneas were resected at 3, 12, 24, and 72 hours after intracorneal injection with A. fumigatus. Normal corneas (4 eyes) were used as a control. Monoclonal antibodies to beta 1 subunit of VLAs, alpha 1 subunit of VLA-1, LFA-1, ICAM-1,and ELAM-1 were used for immunohistochemical staining of 20 corneas.The results were as follows: In normal cornea, beta 1 subunit of VLAs was expressed on all parts of the cornea, and ICAM-1 was expressed on corneal stroma and endothelium. Vascular endothelium showed expression of beta 1 subunit of VLAs and ICAM-1 after 12 hours of intracorneal injection, and alpha1 subunit of VLA-1 and ELAM-1 at 72 hours after injection. In inflamed cornea, beta 1 subunit of VLAs was expressed strongly at 72 hours after injection. Alpha1 subunit of VLA-1 was detected on corneal stroma after 12 hours of injection, and on corneal endothelium at 72hours after injection. Expression of beta 2 subunit of LFA-1 was weak on corneal stroma after 3 hours injection, and on corneal endothelium at 72 hours after injection. ICAM-1 expression was detected weakly on corneal epithelium, and increased on corneal stroma and endothelium at 72 hours after injection. ELAM-1 was expressed weakly on corneal stroma after 3 hours of injection, and on corneal endothelium at 72 hours after injection.In this study, it was found that the invasion of A. fumigatusinto the cornea causes localized inflammatory reaction that results in activation of corneal cells (keratocytes, corneal endothelial cells and epithelial cells), and subsequent expression of adhesion molecules in the cornea. Expression of adhesion molecules facilitates the inflammatory cells to be migrated into the cornea with inflammmation.

Clinical Studies of 19 Cases of Acute Posterior Multifocal Placoid Pigment Epitheliopathy

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an inflammatory disease of the retina characterized by rapid loss of central vision, secondary to multiple flat yellow-whitish placoid lesions at the level of the pigment epithelium on the posterior pole. The fluorescein angiography demonstrates initial hypofluorescence in the lesion, where shows hyperfluorescence later. Usually, the central vision is recovered spontaneousely despite of permanent alterations in the pigment epithelium. The authors describe the clinical analysis of 19 cases of APMPPE treated at Department of Ophthalmology, Pusan Paik Hospital, Inje Medical college from January 1986 to July 1990. The results were as follows: 1) Ten cases(54%)occurred in the third decade. 2) Bilateral involvement occurred in 17 cases(90%) and 4 cases of those showed a different onset of symptoms in both eyes. 3) Nine cases(48%) occurred in the summer. 4) The symptoms of upper respiratory tract infection(URI) preceded by an average six days. 5) The symptoms of URI was indicated by 13 of the patients(68%). 6) Seventeen eyes(47%) showed uveitis as the combined ocular sign. 7) The lymphocytosis of cerebrospinal fluid was shown in four of eight cases(50%). In the complete blood count, leukocytosis was shown with 78% of all. 8) The visual acuity was below 0.4 in 83% of all at the time of presentation, and the final visual acuity was above 0.5 in 89% of all. 9) The visual acuity improved an average of eight weeks after the onset of symptoms.

4 Cases of Double Elevator Palsy

Double elevator palsy(DEP) is rare paralytic anomaly of ocular motility due to monocular paresis of both elevator muscles. Clinically, DEP is classified into the pure paralytic, restricted and mixed types. The authors describe the clinical experiences of 2 cases of purely paralytic type of DEP and 2 cases of restricted type of DEP treated at Department of Ophthalmology, Pusan Pail, Hospital, Inje Medical College from January 1988 to January 1991. The results were as follows: 1) In the pure paralytic type of DEP, the hypotropia was below 30 prism diopters in the primary position and in the restricted type, greater than 60 prism diopters preoperatively. 2) Preoperatively, the pseudoptosis was shown in 2 cases of purely paralytic type of DEP and it was disappeared postoperatively. The Bell's phenomenon was shown the negative result in 2 cases of restricted type of DEP. 3) For the pure paralytic type, the both vertical and horizontal deviation were corrected completely in primary position by the transposition and recession of the horizontal rectus muscles at one surgery and the limitation of ocular motility remained more and less in the elevation postoperatively but no limitation in the adduction and abduction. For the restricted type, the tenectomy of the inferior rectus muscle corrected about 40 prism diopters of hypotropia without the limitation of the infraduction.