Spondylometaphyseal dysplasia (SMD) is an extremely rare, which affects the spine and metaphy-ses of the tubular bones on terms of enchondrogenesis. Children who had Kozlowski dwarfism, type of SMD are not recognized until they reach school age since they have normal clinical feature, weight and size in early childhood. Authors experienced a typical case of Kozlowski type of SMD in a 10 years old male who had i) generalized platyspondyly with anterior tapering of vertebrae ii) generalized metaphyseal dysplasia iii) minimal changes in the carpal and tarsal bones. This case is to be reported with review of references.
Child ; Dwarfism ; Humans ; Male ; Spine ; Tarsal Bones

Phosphoinositide-specific phospholipase C(PLC) is known as a key enzyme which produces two major second messengers: diacylglycerol and inositol 1,4,5 trisphosphate. Although it has been suggested that PLC beta isozymes have important roles in nervous system, less is known about the function of PLC beta in development of nervous system. We have localized the mRNA expressions of PLC beta isozymes in the postnatal rat brains by id firm hybridization histochemistry. In the postnatal rat brains, each isozyme of PLC beta showed differential expression pattern. The expression of PLC beta1 mRNA was found in various areas including olfactory bulb, cerebral cortex, caudate putamen, hippocampus, dentate gyrus, and cerebellum. In general, the expression in these areas was gradually increased after birth (PO) until postnatal day 21 (P2l) and slightly decreased to adult level. The expression of PLC beta2 mRNA was not found in postnatal rat brains. The expression of PLC beta3 mRNA was found from P0, peaked at Pl4, and decreased to adult level in the purkinje cells of cerebellum. PLC beta4 mRNA was strongly expressed in the thalamus, cerebellum, cerebral cortex, and olfactory bulb. In these areas, the expression was gradually increased after birth, peaked at P2l, and decreased to adult level. In whole body parasagittal sections of 18 day old rat embryo, PLC betal mRNA was exclusively expressed in nervous tissue, PLC beta3 and PLC beta4 were expressed in various tissues, and the expression of PLC beta2 was not found in any kind of rat tissues. From the different spatiotemporal mRNA expression patterns of PLC beta isozymes in the postnatal rat brains, it is suspected that each PLC beta isozyme may have specific role in signal transduction for postnatal development of rat brain.
Adult ; Animals ; Brain* ; Cerebellum ; Cerebral Cortex ; Dentate Gyrus ; Embryonic Structures ; Hippocampus ; Humans ; Inositol ; Isoenzymes* ; Nervous System ; Olfactory Bulb ; Parturition ; Phospholipase C beta* ; Phospholipases* ; Purkinje Cells ; Putamen ; Rats* ; RNA, Messenger* ; Second Messenger Systems ; Signal Transduction ; Thalamus

The hyperimmunoglobulinemia E (Jobs) syndrome (HIES) is characterized by marked elevated levels of IgE, recurrent cutaneous and systemic staphylococcal infections, atopic-like dermatitis, and defective neutrophil chemotaxis. Three cases of HIES have been reported in Korea, but not in the dermatology literature. We report a case of HIES with cutaneous infections and MRSA (methicillin-resistant Staphylococcus aureus). A 15-month-old girl presented with intractable pruritic excoriated papular pustular skin lesions and multiple subcutaneous abscesses. Surgical drainage of the abscesses and a course of antibiotic treatment in addition to topical steroids for about 7 weeks resulted in a remarkable improvement.
Abscess ; Chemotaxis ; Dermatitis ; Dermatology ; Drainage ; Female ; Humans ; Hypergammaglobulinemia* ; Immunoglobulin E ; Infant ; Job Syndrome* ; Korea ; Methicillin-Resistant Staphylococcus aureus ; Neutrophils ; Skin ; Staphylococcal Infections ; Staphylococcus ; Steroids

Trichorhinophalangeal syndrome is a genetic disease and divided into three differen types. Trichorhinophalangeal syndrome type I is characterixed by alopecia, a bulbous pear-shaped nose and cone-shaped epiphyses in the hand. Diverse clinical manifestations can be observed such as short stature, mandibular abnormality, winged scapula, etc. It is inherited in an autosomal manner, and may cause grave joint abnormalities which should be corrected early in life. We describe a 23-year-old woman with diverse clinical manifestations of trichorhinophalangeal syndrome type I, including prognathism and a winged scapula, two features which have not been previously described in the Korean literature.
Alopecia ; Epiphyses ; Female ; Hand ; Humans ; Joints ; Nose ; Prognathism ; Scapula ; Young Adult

No abstract available.
Animals ; Cricetinae* ; Cryopreservation* ; Oocytes*

No abstract available.
Arthrogryposis*

No abstract available.
Animals ; Brain* ; Cats* ; Inositol 1,4,5-Trisphosphate* ; Inositol*

Parathyroid hormone (PTH) has not been studied as extensively as therapeutic agents of osteoporosis, but the anabolic effect of parathyroid hormone on the skeleton has been demonstrated in several studies. The current study was undertaken to assess the effect of parathyroid hormone on bone mass and its biomechanical competence using ovariectomized rat model. Fifty female Sprague Dawley rats of 3 months old were randomized into five groups, 10 in number for each groups. Group I: sham-operation, Group II: ovariectomy (OVX) plus saline injection, Group III: OVX plus PTH 20ug/kg, Group IV: OVX plus PTH 40ug/kg, Group V: OVX plus PTH 80ug/kg. Treatment regimens were initiated 8 weeks after ovariectomy and continued for 4 weeks thereafter. Bone mineral density was measured in proximal one-third level of tibia by dual energy X-ray absorptiometry (QDR-2000, Hologic, U.S.A). Biomechanical competence was assessed in lumbar vertebral body by universal testing machine (Instron-4467, U.S.A). The average of bone mineral density in sham operated group was 0.088+/-0.0084g/cm (2), and in control group (OVX +/- saline)was 0.065+/-0.0095g/cm (2). Bone mineral density decreased in control group significantly. The average of bone mineral densities in Group III, IV, V (OVX + PTH) were 0.071+/- 0.0089, 0.081+/-0.0086 and 0.084+/-0.0093g/cm (2), respectively. This showed that parathyroid hormone injected groups had significantly higher bone mass than control group (p<0.0#5), and the increment was in proportion to the amount of parathyroid hormone in the range (p<0.05). The average of biomechanical competence of lumbar vertebral body in sham operated group was 30.036.24 MPa and was 25.11+/-5.69 MPa in control group. In Group III, IV,V they were 25.74+/-6.77, 27.96+/-5.17 and 29.83+/-5.79 MPa, respectively. Above results seem supportive of the phenomenon that parathyroid hormone exert anabolic effect on osteoporotic bones in certain experimental condition.
Absorptiometry, Photon ; Anabolic Agents ; Animals ; Bone Density* ; Female ; Humans ; Infant ; Mental Competency ; Models, Animal ; Osteoporosis ; Ovariectomy ; Parathyroid Hormone* ; Rats* ; Rats, Sprague-Dawley ; Skeleton ; Spine* ; Tibia*

No abstract available.
Aged* ; Child* ; Dislocations* ; Hip* ; Humans

Authors concluded an experimental study in order to find out what the effects of parathyroid hormone on cells derived from human Trabecular bone in vitro are on terms of proliferation of cells, adenylate cyclase activity and production of small substances such as osteocalcin and collagen type I. The results were as follows; 1. 3H-thymidine incorporation into cultured osteoblast was initially low (day 1–2), increased by exponential curve from day 3 till day 11. The uptakes of 3H-thymidine by osteoblasts, when bovine parathyroid hormone was added, increased dose-dependently. Greater increments were seen at concentrations of bovine PTH higher than 5.0 X10-8 mole. 2. Intracellular c-AMP accumulation was stimulated by bovine PTH in a dose-dependent manner and greater production was seen at concentrations of bovine PHT higher than 5.0 X10-8 mole. Maximal stimulation was observed at 1 X10-7 mole of bovine PTH. The concentrations of c-AMP were observed significantly higher in the presence of bovine PTH in a dose-dependent manner when compared to those of bovine PTH-absent culture condition. 3. Treatment with bovine parathyroid hormone of cultured osteoblasts resulted in increase of alkaline phophatase activity and synthesis of osteocalcin in the cultured media in a dose-dependent manner. Greater productions were observed at concentrations of bovine PTH higher than 5.0 X10-8 mole. 4. Synthesis of type I collagen by cultured osteoblasts in bovine PTH-added media was inversely proportional to their concentration, whereas control group showed minimal increments of no significance. These in vitro findings may suggest that PTH has a stimulatory effect on proliferation of osteoblast, c-AMP production and alkaline phosphatase activity in a direct manner.
Adenylyl Cyclases ; Alkaline Phosphatase ; Cell Proliferation ; Collagen Type I ; Humans ; In Vitro Techniques ; Osteoblasts ; Osteocalcin ; Parathyroid Hormone