Duchenne muscular dystrophy (DMD) is the most common and lethal dystrophy in childhood, caused by mutations in the dystrophin (DMD) gene. Multiplex ligation dependent probe amplification (MLPA) or array comparative genome hybridization (aCGH) is widely used as an initial molecular diagnostic tool. If no deletions or duplications are found in MLPA or aCGH, the samples must be subjected to a second test of direct sequencing. Direct sequencing of the DMD gene, however, is time-consuming, high-cost, and can be inconclusive. Here, we performed whole exome sequencing on a patient with progressive muscle weakness whose MLPA result was negative; the result revealed a rare frame shift mutation. Direct sequencing on the patient's mother showed the same mutation. Whole exome sequencing can be a new diagnostic routine for DMD patients with negative MLPA3.
Comparative Genomic Hybridization ; Dystrophin ; Exome* ; Frameshift Mutation ; Genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Mothers ; Multiplex Polymerase Chain Reaction ; Muscle Weakness ; Muscular Dystrophy, Duchenne* ; Pathology, Molecular

No abstract available.
Ectromelia*

Adult intussusception is rare involving of only 1% of the causes of bowel obstruction. We report a case of a 39-year-old female with intussusceptions due to inverted Meckel's diverticulum. She visited our hospital for diffuse abdominal pain during 1 week and aggravated abdominal pain for 2 days. Vital signs were stable, and there was periumbilical tenderness. She had no history of abdominal operation. CT scan showed a 3.7x2.1 cm of fatty mass with focal intussusception in the distal ileum. When the emergency operation was performed, the patient was found to be suffering from ileocolic intussusception. A manual reduction of intussusception showed inverted Meckel's deverticulum at 65 cm proximal to the ileocecal valve, and the segmental resection of small bowel including a Meckel's diverticulum was performed. Pathologic examination revealed a Meckel's diverticulum containing a 0.6x0.6 cm sized aberrant pancreas.
Abdominal Pain ; Adult ; Emergencies ; Female ; Humans ; Ileocecal Valve ; Ileum ; Intussusception ; Meckel Diverticulum ; Pancreas ; Stress, Psychological ; Vital Signs

Squamous cell carcinoma is the most common type of oral cancer and odontogenic myxoma is relatively uncommon benign tumor of mesenchymal origin. There are, to our knowledge, no prior reports of simultaneously occurring squamous cell carcinoma and odontogenic myxoma of the jaw bones. In this case, at first, the plain films and computed tomograms revealed a large expansile multilocular radiolucent lesion on left mandible and marked expansion of cortical plate. In addition this radiograms revealed also infiltrative bony destruction of anterior and medial border of ascending ramus of left mandible and alveolar bone of left maxilla, floating teeth on left lower molar area and metastatic enlargement of left submandibular, jugular digastric and spinal accessory lymphnodes. Magnetic resonance imaging of this patient revealed infiltrative growth of tumor on alveolar bone of left maxilla, left retromolar fat pad, left masseter and left medial pterygoid muscle. Intraoral presurgical biopsy presented typical features of squamous cell carcinoma. After chemotherapy with radiation therapy during 6 months, this central lesion was diagnosed as odontogenic myxoma by the postsurgical biopsy. After 3 months, this patient presented multiple metastatic signs at lumbar spines, rib and liver. Consequently, our case is simultaneous occurrence of squamous cell carcinoma and odontogenic myxoma.
Adipose Tissue ; Biopsy ; Carcinoma, Squamous Cell* ; Drug Therapy ; Humans ; Jaw ; Liver ; Magnetic Resonance Imaging ; Mandible* ; Maxilla ; Molar ; Mouth Neoplasms ; Myxoma* ; Neoplasm Metastasis ; Pterygoid Muscles ; Ribs ; Spine ; Tooth

Squamous cell carcinoma is the most common type of oral cancer and odontogenic myxoma is relatively uncommon benign tumor of mesenchymal origin. There are, to our knowledge, no prior reports of simultaneously occurring squamous cell carcinoma and odontogenic myxoma of the jaw bones. In this case, at first, the plain films and computed tomograms revealed a large expansile multilocular radiolucent lesion on left mandible and marked expansion of cortical plate. In addition this radiograms revealed also infiltrative bony destruction of anterior and medial border of ascending ramus of left mandible and alveolar bone of left maxilla, floating teeth on left lower molar area and metastatic enlargement of left submandibular, jugular digastric and spinal accessory lymphnodes. Magnetic resonance imaging of this patient revealed infiltrative growth of tumor on alveolar bone of left maxilla, left retromolar fat pad, left masseter and left medial pterygoid muscle. Intraoral presurgical biopsy presented typical features of squamous cell carcinoma. After chemotherapy with radiation therapy during 6 months, this central lesion was diagnosed as odontogenic myxoma by the postsurgical biopsy. After 3 months, this patient presented multiple metastatic signs at lumbar spines, rib and liver. Consequently, our case is simultaneous occurrence of squamous cell carcinoma and odontogenic myxoma.
Adipose Tissue ; Biopsy ; Carcinoma, Squamous Cell* ; Drug Therapy ; Humans ; Jaw ; Liver ; Magnetic Resonance Imaging ; Mandible* ; Maxilla ; Molar ; Mouth Neoplasms ; Myxoma* ; Neoplasm Metastasis ; Pterygoid Muscles ; Ribs ; Spine ; Tooth

Coronary stent embolization is a rare event but may result in clinically relevant cardiac ischemia or peripheral embolization during the procedure. We report a case of systemic embolizations of two coil stents during the primary PTCA in acute myocardial infarction, who were treated successfully with a double wire helix technique and a gooseneck snare. Although in our experience this rare complication did not produce any clinical complications, care should be taken to prevent this possibility, especially in patients with significant vessel tortuosity, calcification, total occlusion, or mild stenosis proximal to the target lesion.
Constriction, Pathologic ; Humans ; Iliac Artery* ; Ischemia ; Myocardial Infarction ; SNARE Proteins ; Stents*

PURPOSE: To investigate the production of long pentraxin 3 (PTX3) in response to tunicamycin-induced endoplasmic reticulum (ER) stress and its role in ER stress-associated cell death, PTX3 expression was evaluated in the human retinal pigment epithelial cell line, ARPE-19. METHODS: PTX3 production in ARPE-19 cells was analyzed in the absence or presence of tunicamycin treatment by enzyme-linked immunosorbent assay. PTX3 protein and mRNA levels were estimated using western blot analysis and real-time reverse transcription-polymerase chain reaction, respectively. Protein and mRNA levels of CCAAT-enhancer-binding protein homologous protein (CHOP) and ARPE-19 cell viability were measured in the presence of tunicamycin-induced ER stress in control or PTX3 small hairpin RNA (shRNA)-transfected ARPE-19 cells. RESULTS: The protein and mRNA levels of PTX3 were found to be significantly increased by tunicamycin treatment. PTX3 production was significantly decreased in inositol-requiring enzyme 1α shRNA-transfected ARPE-19 cells compared to control shRNA-transfected cells. Furthermore, pretreatment with the NF-κB inhibitor abolished tunicamycin-induced PTX3 production. Decreased cell viability and prolonged protein and mRNA expression of CHOP were observed under tunicamycin-induced ER stress in PTX3 shRNA transfected ARPE-19 cells. CONCLUSIONS: These results suggest that PTX3 production increased in the presence of tunicamycin-induced ER stress. Therefore, PTX3 could be an important protector of ER stress-induced cell death in human retinal pigment epithelial cells. Inositol-requiring enzyme 1α and the NF-κB signaling pathway may serve as potential targets for regulation of PTX3 expression in the retina. Therefore, their role in PTX3 expression needs to be further investigated.
Anti-Bacterial Agents/pharmacology ; Apoptosis ; Blotting, Western ; C-Reactive Protein/biosynthesis/*genetics ; Cells, Cultured ; Endoplasmic Reticulum Stress/*drug effects/genetics ; Enzyme-Linked Immunosorbent Assay ; *Gene Expression Regulation ; Humans ; Polymerase Chain Reaction ; RNA, Messenger/*genetics ; Retinal Pigment Epithelium/*metabolism/pathology ; Serum Amyloid P-Component/biosynthesis/*genetics ; Tunicamycin/*pharmacology

Schizencephaly is an unusual condition rarely detected antenatally. It is a neuronal migrational disorder consisting of clefts in the brain that communicate with the lateral ventricles. The etiology and the pathogenesis is not clearly estabilished. While some authors advocate a vascular insult with a secondary effect on brain development, others suggest a primary cerebral dysgenesis by genetic or acquired factors. The importance of making an accurate antenatal diagnosis is that the outcome for schizencephaly in considerably poor than for other causes of ventriculomegaly. Typical symtoms include seizures, mental retardation, spastic tetraplagia and blindness. We report a case of typeIIschizencephaly that was diagnosed antenatally in the third trimester with a brief reiew of literatures.
Blindness ; Brain ; Female ; Humans ; Intellectual Disability ; Lateral Ventricles ; Malformations of Cortical Development* ; Muscle Spasticity ; Neurons ; Pregnancy ; Pregnancy Trimester, Third ; Prenatal Diagnosis ; Seizures

BACKGROUND AND OBJECTIVES: Practical concerns about transradial approach are increasing in consideration of high procedural success rate, low local complications, and patient's convenience. There was no available data about repeated-use of radial artery for coronary procedures. We evaluate the changes of radial arterial diameter and procedural outcomes of repeated transradial procedure. MATERIALS AND METHOD: Of consecutive 1771 transradial coronary procedures, 117 patients received repeated transradial procedures through the same radial artery. Radial arterial diameter, vascular access time and procedural outcomes were evaluated in between the group of first-use and repeated-use of radial artery. RESULTS: Among 117 patients of second transradial coronary procedure in the repeated-use group, 47 patients (41.6%) underwent coronary intervention and 66 patients (58.4%) underwent coronary angiography. The right radial approach was used in 82.9% of the cases. There was no significant difference in radial artery mean diameter between pre-procedure and 1 day after procedure in patients with first-use and repeated-use group. There was no significant change of radial arterial diameter after first-use depending on the SAR (the ratio of sheath outer diameter to radial artery inner diameter). However, after repeated-use of radial artery, there was significant reduction of radial arterial diameter 1 day after procedure in the patients with SAR more than 0.9 (p<0.05). In repeated-use group, the mean radial arterial diameter was 2.63 +/- 0.35mm mm before the procedure and 2.51 +/- 0.29mm during follow-up (136 +/- 123 days) (p<0.05). There was no significant difference of the vascular access time between the first-use and repeated-use procedures (2.9+/-3.1 vs 3.3+/-3.6 minutes, p<0.05). The procedural success and vascular complication rate of repeated-use of radial artery were as similar to those of the first-use, but total occlusion of radial artery was higher in the repeated-use group (2.6% vs 0.7%, p<0.05). CONCLUSION: The diameter of radial artery after transradial procedures was significantly reduced during follow-up and the incidence of asymptomatic radial artery occlusion was more frequent after repeated-use. However, repeated-use of radial artery was feasible in most patients with high procedural success rate and low vascular complications.
Coronary Angiography ; Follow-Up Studies ; Humans ; Incidence ; Radial Artery*

PURPOSE: This study was aimed to compare the effectiveness and tolerability of topiramate add-on therapy versus lidocaine add-on therapy in children with refractory status epilepticus. METHODS: We performed a retrospective analysis of children with refractory status epilepticus who were hospitalized at Kyungpook National University Hospital during the period 2005 to 2012. We divided them into two groups, Group A (midazolam, MDZ, and Topiramate, TPM:11 patients) and Group B (midazolam and lidocaine, LDC:7 patients). Furthermore, they were sub-categorized according to children's sex, age, seizure duration, and seizure type. To comepare the effectiveness and tolerability between the two groups, we evaluated seizure freedom, >50% seizure reduction, adverse events and mortality rates, respectively. RESULTS: In MDZ/TPM group, average dosage of midazolam infusion was 10.8+/-6.8 mcg/kg/min, seizure freedom was achieved in 1 out of 11 patients (9%) and >50% seizure reduction was in 2 out of 11 patients (18%). On the other hand, in MDC/LDC group, average dosage of midazolam infusion is 11.3+/-5.2 mcg/kg/min, seizure freedom was achieved in 2 out of 7 patients (29%) and >50% seizure reduction was 3 out of 7 patients (43%). Aside from the promising effects, there was no significant difference between the two groups. CONCLUSION: In children with refractory status epilepticus, topiramate or lidocaine add-on therapy seemed to be effective and fairly tolerated and showed no serious adverse effects. Therefore they can be an alternative treatment option. However, further studies are required.
Child* ; Freedom ; Gyeongsangbuk-do ; Hand ; Humans ; Lidocaine* ; Midazolam ; Mortality ; Retrospective Studies ; Seizures ; Status Epilepticus*