Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.
Adolescent ; Arm ; Congenital Abnormalities ; Constriction, Pathologic ; Diagnosis, Differential ; Displacement (Psychology) ; Dysostoses ; Ear ; Epiphyses ; Fingers ; Growth Disorders ; Hearing Loss, Sensorineural ; Humans ; Hypertelorism ; Intellectual Disability ; Korea ; Magnetic Resonance Imaging ; Metacarpal Bones ; Metatarsal Bones ; Neurologic Manifestations ; Nose ; Osteochondrodysplasias ; Palatine Tonsil ; Platybasia ; Skull ; Spinal Canal ; Spinal Stenosis ; Spine ; Toes ; Upper Extremity

BACKGROUND/AIMS: Matrix metallopeptidase (MMP) is known to be involved in tumor invasion and metastasis of cancer. This study investigated the association of MMP7 rs11568818, MMP8 rs11225395, MMP9 rs17576 and rs2250889 with gastric cancer (GC) development and lymph node metastasis (LNM). METHODS: Samples were obtained from 326 chronic gastritis (CG) and 153 GC patients and genotyped by using the GoldenGate(R) method. Chi-square test was performed to identify the difference of allele distribution between each group (CG vs. GC; CG vs. with LNM GC). The associations of genotype with risk of GC and LNM were estimated by odds ratio and the 95% confidence interval was calculated by logistic regression adjusting for age and sex. RESULTS: The allele and genotype frequencies of MMP7 rs11568818, MMP8 rs11225395, MMP9 rs17576 and rs2250889 were not associated with the development of GC and LNM. CONCLUSIONS: In summary, MMP7 rs11568818, MMP8 rs11225395 MMP9 rs17576 and rs2250889 were not associated with the GC development and LNM in Korean population.
Adult ; Age Factors ; Aged ; Alleles ; Chronic Disease ; Female ; Genotype ; Humans ; Logistic Models ; Lymphatic Metastasis ; Male ; Matrix Metalloproteinase 7/*genetics ; Matrix Metalloproteinase 8/*genetics ; Matrix Metalloproteinase 9/*genetics ; Middle Aged ; Neoplasm Staging ; Odds Ratio ; Polymorphism, Single Nucleotide ; Risk Factors ; Sex Factors ; Stomach Neoplasms/*genetics

PURPOSE: To evaluate the efficacy and benefits of transcatheter arterial embolization(TAE) in patients with blunt splenic injury after blunt abdominal trauma. MATERIALS AND METHODS: We retrospectively analyzed the results of transcatheter arterial embolization in 23 patients who suffered splenic injury after blunt abdominal trauma. Fourteen of the patients were male, and 9 were female; 13 were adults, and 10 were children. Transcatheter arterial embolization was performed in patients with hypotension, tachycardia, evidence of hemodynamic instability due, for example, to low levels of Hgb and Hct, or those who needed fluid therapy or blood transfusion. After embolization the patients 'progress was monitored by CT scanning, abdominal sonography, or 99mTc-sulfur colloid scintigraphy. RESULTS: The degree of splenic injury was classified according to the system devised by Mirvis et al.; nine cases were CT grade III, and 14 were grade IV. After demonstrating angiographically the site of contrast leakage, embolization was performed; for this, a coil only was used in 16 cases, gelfoam only in four, and both coil and gelfoam in three. There were three sites of vascular embolization: 16 procedures were performed in the proxi-mal part of the main trunk of the splenic artery, four in a superselected branch of this same artery, and three in both the splenic artery and one of its superselected branches. Of the 23 cases, 18 recovered without splenectomy after embolization, three adult patients died from coexisting conditions (spinal or cerebral injuries, liver cir-rhosis, or pelvic bone fracture) or complications(acute renal failure or disseminated intravascular coagulation). Due to co-existing pancreatic and mesenteric vessel injury, two of the adult patients who underwent TAE also underwent delayed surgery; intraoperatively, there was no evidence of splenic rebleeding. In all patients who did not undergo surgery, follow-up observation revealed a decreased volume of hemoperitoneum, increased uptake of radionuclide in the spleen, and no evidence of rebleeding. CONCLUSION: Transcatheter angiography and arterial embolization in patients with splenic injuries who showed hemodynamic instability and a high CT grade is a non-surgical approach that can achieve early hemostasis and hemodynamic stability. Another benefit of this procedure is the preservation of splenic function.
Adult ; Angiography ; Arteries ; Blood Transfusion ; Child ; Colloids ; Female ; Fluid Therapy ; Follow-Up Studies ; Gelatin Sponge, Absorbable ; Hemodynamics ; Hemoperitoneum ; Hemostasis ; Humans ; Hypotension ; Liver ; Male ; Pelvic Bones ; Radionuclide Imaging ; Renal Insufficiency ; Retrospective Studies ; Spleen ; Splenectomy ; Splenic Artery ; Tachycardia ; Tomography, X-Ray Computed

BACKGROUND/AIMS: Oncogenic RAS gene mutations have been frequently observed in many tumor types, and their associations with various cancers were reported. This study was conducted to evaluate the association between H-RAS T81C polymorphism and gastric cancer development. METHODS: H-RAS T81C polymorphism was genotyped in 321 chronic gastritis (ChG) and 151 gastric cancer (GC) patients using GoldenGate(R) Assay kit. Logistic regression analysis adjusted for age and gender was performed to identify the differences of genotype and allele distributions between the each group. RESULTS: All ChG and GC patients were in Hardy-Weinberg equilibrium. When the frequencies of H-RAS T81C genotype in each group were compared, the homozygous type of major allele TT was more frequent in GC group (62.9%) than ChG group (57.3%), while the frequencies of heterozygous type TC and homozygous type of minor allele CC were higher in ChG group than GC group (39.3% vs. 33.8%, 3.4% vs. 3.3%, respectively). In the results of logistic regression analyses adjusted for age and gender, the odds ratios were 0.845 (0.604-1.182), 0.799 (0.556-1.147), 0.741 (0.493-1.114) and 1.094 (0.366-3.270) for allele, codominant, dominant and recessive models, respectively. However, significant difference was not observed between two groups in any models. CONCLUSIONS: H-RAS T81C polymorphism was not associated with gastric cancer development in a Korean population.
Adult ; Aged ; Alleles ; Amino Acid Substitution ; Chronic Disease ; Female ; Gastritis/genetics ; Genetic Predisposition to Disease ; Genotype ; Humans ; Logistic Models ; Male ; Middle Aged ; *Polymorphism, Single Nucleotide ; Republic of Korea ; Stomach Neoplasms/*genetics ; ras Proteins/*genetics

No abstract available.
Hair Follicle* ; Hair* ; Humans*

No abstract available.
Hair Follicle* ; Hair* ; Humans*

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of?12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.
Achondroplasia ; Arthroplasty ; Cartilage ; Congenital Abnormalities ; Early Diagnosis ; Epiphyses ; Exons ; Extracellular Matrix Proteins ; Extremities ; Family Characteristics ; Genetic Counseling ; Glycoproteins ; Hip Joint ; Humans ; Knee ; Mutation, Missense ; Osteoarthritis ; Osteochondrodysplasias ; Pedigree

Human mesenchymal stem cells (hMSCs) are multipotent stem cells that can differentiate into several mesenchymal lineage cells. In this study, we established conditions that allowed a long term expansion of hMSCs. To search for the optimum culture condition, growth rates of hMSCs were measured in the presence of several growth factors. Hepatic growth factor (HGF) and leukemia inhibitory factor (LIF) did not facilitate proliferation of hMSCs. In contrast, basic fibroblast growth factor (bFGF) effectively promoted growth of the cells in vitro by 3 fold. The growth stimulatory effect of bFGF was dependent on the concentration. The adipogenic potential was dramatically decreased in hMSCs isolated from an aged donor whereas osteogenic potential was minimally decreased. Addition of bFGF resumed the adipogenic and osteogenic differentiation potential. Thus, the cells that expanded in the presence of bFGF retained the potential to differentiate into adipogenic, chondrogenic, or osteogenic lineage cells. MSCs could be expanded for at least 8 passages with bFGF and the resulting cells retained the normal karyotype. The cells were positive for CD9, CD13, CD15, CD90, CD137, and CD140b; but negative for CD14, CD34, and CD45. Importantly, the cells were found to express a neural stem cell marker, nestin, and a neuronal marker, beta-tubulin III. The results suggest that bFGF promote proliferation while maintaining multi-lineage differentiation potency of hMSCs. Finally, we suggest that it is critical to identify novel markers other than nestin or beta-tubulin III to monitor acquisition of neuronal phenotypes by hMSCs.
Fibroblast Growth Factor 2* ; Humans* ; Intercellular Signaling Peptides and Proteins ; Karyotype ; Leukemia Inhibitory Factor ; Mesenchymal Stromal Cells* ; Multipotent Stem Cells ; Nestin ; Neural Stem Cells ; Neurons ; Phenotype ; Tissue Donors ; Tubulin

BACKGROUND: Gross anatomy and sectional anatomy of a monkey should be known by students and researchers of veterinary medicine and medical research. However, materials to learn the anatomy of a monkey are scarce. Thus, the objective of this study was to produce a Visible Monkey data set containing cross sectional images, computed tomographs (CTs), and magnetic resonance images (MRIs) of a monkey whole body. METHODS: Before and after sacrifice, a female rhesus monkey was used for 3 Tesla MRI and CT scanning. The monkey was frozen and sectioned at 0.05 mm intervals for the head region and at 0.5 mm intervals for the rest of the body using a cryomacrotome. Each sectioned surface was photographed using a digital camera to obtain horizontal sectioned images. Segmentation of sectioned images was performed to elaborate three-dimensional (3D) models of the skin and brain. RESULTS: A total of 1,612 horizontal sectioned images of the head and 1,355 images of the remaining region were obtained. The small pixel size (0.024 mm × 0.024 mm) and real color (48 bits color) of these images enabled observations of minute structures. CONCLUSION: Due to small intervals of these images, continuous structures could be traced completely. Moreover, 3D models of the skin and brain could be used for virtual dissections. Sectioned images of this study will enhance the understanding of monkey anatomy and foster further studies. These images will be provided to any requesting researcher free of charge.
Anatomy, Cross-Sectional ; Brain ; Dataset ; Female ; Haplorhini ; Head ; Humans ; Macaca mulatta ; Magnetic Resonance Imaging ; Primates ; Skin ; Tomography, X-Ray Computed ; Veterinary Medicine

OBJECTIVE: To investigate the treatment efficacy between low and high dose of triamcinolone acetonide in the treatment of ultrasonographic-guided subacromial bursa injection. METHOD: Forty two patients with periarticular shoulder disorders were randomly assigned to receive injection with 10 mg (group 1, 20 patients) or 40 mg (group 2, 22 patients) triamcinolone acetonide. After a single injection, participants were followed up for 6 weeks. Treatment efficacy was measured upon pre-treatment and post-treatment on week 1, 3, 6, using visual analog scale for average pain intensity during 24 hours (24 h VAS), Shoulder Function Assessment scale (SFA), Shoulder Disability Questionnaire (SDQ), and active range of motion (AROM). Participants and the assessor were blinded for group assignment. RESULTS: Six weeks after injection, the 24 h VAS, the SFA, the SDQ, and the AROM (internal rotation, external rotation, and abduction) showed a significantly greater improvement in group 2 than group 1 (p <0.05). CONCLUSION: This study showed that in the treatment of periarticular shoulder disorders greater pain relief and functional improvement were obtained with a dose of 40 mg triamcinolone acetonide than with a dose of 10 mg.
Humans ; Surveys and Questionnaires ; Range of Motion, Articular ; Shoulder ; Treatment Outcome ; Triamcinolone Acetonide