No abstract available.
Animals ; Rats*

The C749G(Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. In this study, the blood of 9 Korean children with non-syndromic craniosynostosis were collected and mutation analyses were performed to screen whether this Pro250Arg mutation is also prevalent in Korean population. The genomic DNA samples were analysed by PCR amplification to amplify exon 7 and flanking intron sequence of FGFR3 (341 bp). Restriction digests were analysed by gel electrophoresis. There were no heterozygous for Pro250Arg mutation. No mutations in restriction enzyme digestion were confirmed by direct DNA sequencing. In this study, only 9 patients with simple craniosynostosis were subjected to mutation detection. Therefore, it is necessary to study a large number of patients in order to understand the proportion of non-syndromic craniosynostosis attributalbe to FGFR3 mutation. The epidemiologic study of this disease should be also combined in addition.
Child ; Craniosynostoses* ; Digestion ; DNA ; Electrophoresis ; Exons ; Fibroblast Growth Factors* ; Fibroblasts* ; Humans ; Introns ; Polymerase Chain Reaction ; Receptor, Fibroblast Growth Factor, Type 3* ; Receptors, Fibroblast Growth Factor* ; Sequence Analysis, DNA

The C749G(Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. In this study, the blood of 9 Korean children with non-syndromic craniosynostosis were collected and mutation analyses were performed to screen whether this Pro250Arg mutation is also prevalent in Korean population. The genomic DNA samples were analysed by PCR amplification to amplify exon 7 and flanking intron sequence of FGFR3 (341 bp). Restriction digests were analysed by gel electrophoresis. There were no heterozygous for Pro250Arg mutation. No mutations in restriction enzyme digestion were confirmed by direct DNA sequencing. In this study, only 9 patients with simple craniosynostosis were subjected to mutation detection. Therefore, it is necessary to study a large number of patients in order to understand the proportion of non-syndromic craniosynostosis attributalbe to FGFR3 mutation. The epidemiologic study of this disease should be also combined in addition.
Child ; Craniosynostoses* ; Digestion ; DNA ; Electrophoresis ; Exons ; Fibroblast Growth Factors* ; Fibroblasts* ; Humans ; Introns ; Polymerase Chain Reaction ; Receptor, Fibroblast Growth Factor, Type 3* ; Receptors, Fibroblast Growth Factor* ; Sequence Analysis, DNA

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

PURPOSE: Pedicled transverse rectus abdominis myocutaneous(TRAM) flap has been a gold standard for breast reconstruction and one of surgical techniques preferred by many surgeons. The authors examined the course of deep epigastric artery focusing on distance from margins of rectus abdominis to pedicle and location of choke vessels to get minimal muscles during pedicled TRAM flap operation. METHODS: Eleven rectus abdominis muscle from nine cadavers were used in this study. Rectus abdominis was separated from the cadavers, deep inferior and superior epigastric artery were isolated and then 8 anatomical landmarks in medial and lateral margins of rectus abdominis were designated. Distance to a pedicle meeting first horizontally was measured and vertical location from umbilicus to choke vessel was determined. In addition, 32 rectus abdominis images of 16 women(average age: 37.2 years old) from 64 channel abdomen dynamic computerized tomography were also examined with the same anatomical landmarks with those of cadavers. RESULTS: Average distance from four landmarks on lateral margin of rectus abdominis to pedicle was 1.9-3.4cm and 1.8-3.8 cm on medial margin. Choke vessel was located between middle and inferior tendinous intersection in all cases and average distance between two tendinous intersection was 6.7-7.0cm on medial margin and 6.2cm on lateral margin. Location of inferior tendinous intersection was on umbilicus or superior of it in all cases and its average distance from umbilicus was 1.8-5.6cm on medial margin and 2.7-6.2cm on lateral margin. CONCLUSION: Distance from medial and lateral margins of rectus abdominis muscle to pedicle was the shortest in inferior tendinous intersection and that was averagely 1.8cm on medial margin and 1.9cm in average on lateral margin. All choke vessels were located between middle and inferior tendinous intersection.
Abdomen ; Cadaver ; Epigastric Arteries ; Female ; Glycosaminoglycans ; Mammaplasty ; Muscles ; Rectus Abdominis ; Umbilicus

A 29-year-old woman had 1-month history of back pain radiating into lower extremities, motor weakness, and sensory abnormalities in both lower extremities. Contrast-enhanced spinal magnetic resonance imaging (MRI) revealed a homogeneously enhancing mass at the T12∼L1 and several intradural enhancing nodular lesions at L2∼S1. Tumor resection surgery was performed and following histological examination showed that the tumor satisfied the diagnostic criteria for atypical choroid plexus papilloma (CPP). To find primary tumor sites, contrast-enhanced brain MRI, whole spine MRI, and PET-CT were carried out and additional lesions were detected at the fourth ventricle, right cerebellum, and upper thoracic spinal cord. This is a very rare case of metastatic atypical CPP that involves brain, upper thoracic spinal cord, and cauda equina with initial manifestation of radicular symptoms without clinical signs of primary brain lesion.

A 29-year-old woman had 1-month history of back pain radiating into lower extremities, motor weakness, and sensory abnormalities in both lower extremities. Contrast-enhanced spinal magnetic resonance imaging (MRI) revealed a homogeneously enhancing mass at the T12∼L1 and several intradural enhancing nodular lesions at L2∼S1. Tumor resection surgery was performed and following histological examination showed that the tumor satisfied the diagnostic criteria for atypical choroid plexus papilloma (CPP). To find primary tumor sites, contrast-enhanced brain MRI, whole spine MRI, and PET-CT were carried out and additional lesions were detected at the fourth ventricle, right cerebellum, and upper thoracic spinal cord. This is a very rare case of metastatic atypical CPP that involves brain, upper thoracic spinal cord, and cauda equina with initial manifestation of radicular symptoms without clinical signs of primary brain lesion.