A 30-year old female had proximal muscle weakness, periungal telangiectasia and purplish red erythema and edema on the face. Diagnosis of dermatomyositis was estabiiished by clinical manifestations, muscle enzyme study, electromyogram, histologic findings of skin and muscle. She was treated with systemic steroid with some improvemellt. About 1 year after the onset of dermatomyositis, aggravated skin lesion and exophthalmos were noted on right eyelid. Orbit computerized tomography scan showed maxillary carcinoma. She treated with systemic steroid, 5-fluorouracil and cis-platin with partial remission and some improvement of dermatomyositis.
Adult ; Dermatomyositis* ; Diagnosis ; Edema ; Erythema ; Exophthalmos ; Eyelids ; Female ; Fluorouracil ; Humans ; Muscle Weakness ; Orbit ; Skin ; Telangiectasis

Recently, next generation sequencing (NGS) has received attention as the ultimate genotyping method to overcome the limitations of capillary electrophoresis (CE)-based short tandem repeat (STR) analysis, such as the limited number of STR loci that can be measured simultaneously using fluorescent-labeled primers and the maximum size of STR amplicons. In this study, we analyzed 15 autosomal STR markers via the NGS method and evaluated their effectiveness in STR analysis. Using male and female standard DNA as single-sources and their 1:1 mixture, we sequentially generated sample amplicons by the multiplex polymerase chain reaction (PCR) method, constructed DNA libraries by ligation of adapters with a multiplex identifier (MID), and sequenced DNA using the Roche GS Junior Platform. Sequencing data for each sample were analyzed via alignment with pre-built reference sequences. Most STR alleles could be determined by applying a coverage threshold of 20% for the two single-sources and 10% for the 1:1 mixture. The structure of the STR in each allele was accurately determined by examining the sequences of the target STR region. The mixture ratio of the mixed sample was estimated by analyzing the coverage ratios between assigned alleles at each locus and the reference/variant ratios from the observed sequence variations. In conclusion, the experimental method used in this study allowed the successful generation of NGS data. In addition, the NGS data analysis protocol enables accurate STR allele call and repeat structure determination at each locus. Therefore, this approach using the NGS system will be helpful to interpret and analysis the STR profiles from singe-source and even mixed samples in forensic investigation.
Alleles ; DNA ; Electrophoresis, Capillary ; Female ; Gene Library ; Humans ; Ligation ; Male ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Statistics as Topic

No abstract available.
Fingers*

No abstract available.
Gastroschisis*

No abstract available.
Choriocarcinoma* ; Female ; Ovary* ; Pregnancy

PURPOSE: The ictal perfusion patterns of cerebellum and basal ganglia have not been systematically investigated in patients with temporal lobe epilepsy (TLE). Their ictal perfusion patterns were analyzed in relation with temporal lobe and frontal lobe hyperperfusion during TLE seizures using SPECT subtraction. MATERIALS AND METHODS: Thirty-three TLE patients had interictal and ictal SPECT, video-EEG monitoring, SPGR MRI, and SPECT subtraction with MRI co-registration. RESULTS: The vermian cerebellar hyperperfusion (CH) was observed in 26 patients (78.8%) and hemispheric CH in 25 (75.8%). Compared to the side of epileptogenic temporal lobe, there were seven ipsilateral hemispheric CH (28.0%), fifteen contralateral hemispheric CH (60.0%) and three bilateral hemispheric CH (12.0%). CH was more frequently observed in patients with additional frontal hyperperfusion (14/15, 93.3%) than in patients without frontal hyperperfusion (11/18, 61.1%). The basal ganglia hyperperfusion (BGH) was seen in 11 of the 15 patients with frontotemporal hyperperfusion (73.3%) and 11 of the 18 with temporal hyperperfusion only (61.1%). In 17 patients with unilateral BGH, contralateral CH to the BGH was observed in 14 (82.5%) and ipsilateral CH to BGH in 2 (11.8%) and bilateral CH in 1 (5.9%). CONCLUSION: The cerebellar hyperperfusion and basal ganglia hyperperfusion during seizures of TLE can be contralateral, ipsilateral or bilateral to the seizure focus. The presence of additional frontal or basal ganglia hyperperfusion was more frequently associated with contralateral hemispheric CH to their sides. However, temporal lobe hyperperfusion appears to be related with both ipsilateral and contralateral hemispheric CH.
Basal Ganglia* ; Cerebellum* ; Epilepsy, Temporal Lobe* ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Perfusion ; Seizures ; Temporal Lobe* ; Tomography, Emission-Computed, Single-Photon

No abstract available.
Female* ; Humans ; Prune Belly Syndrome*

No abstract available.
Hernia*

Pulmonary thromboembolism (PTE) is a serious postoperative complication. Prompt diagnosis of PTE is important but it is difficult because clinical manifestations of PTE are not obvious in most cases. A 59 year-old woman received cholecystectomy and choledocholithotomy under general anesthesia. At the 9th postoperative day, syncope, hypoxemia and hypotension were developed suddenly and the patient was transfered to intensive care unit. PTE was suspected with hemodynamic monitoring from pulmonary arterial catheter and echocardiography and diagnosed with lung perfusion scan and venogram of lower extremities. Proper cardiopulmonary support was done and the patient was recovered and discharged in improved condition. In conclusion, if a patient have syncopal attack with shock in postoperative period, PTE must be thought to be an one of possible causes of syncope and thoroughly investigated.
Anesthesia, General ; Anoxia ; Catheters ; Cholecystectomy ; Diagnosis ; Echocardiography ; Female ; Hemodynamics ; Humans ; Hypotension ; Intensive Care Units ; Lower Extremity ; Lung ; Middle Aged ; Perfusion ; Postoperative Complications ; Postoperative Period ; Pulmonary Embolism* ; Shock ; Syncope

Focal segmental glomerulosclerosis is the renal histopathologic lesion observed in 10% of children with idiopathic nephrotic syndrome. Complications include infection, thrombosis, hypocalcemia and adverse effect of steroid use. The incidence of thrombosis reported ranges from 10~40%. The pathogenesis are changes in coagulation system, decrease of Antithrombin III, increase platelet aggregability and steroid or diuretics use. These changes take place passively as a result of increased protein synthesis and urinary loss of low molecular weight protein. We experienced a case of cerebral infarction due to thrombosis associated with focal segmental glomerulosclerosis and steroid resistant nephrotic syndrome in a 11 year old male patient who had been hospitalized because of convulsion and semicoma. MRI showed an evolving infarct in the occipital lobe, decreased antithrombin III and increased factor VIII on coagulation factor assay. We hereby report a case of cerebral infarction due to thrombosis associated with focal segmental glomerulosclerosis and steroid resistant nephrotic syndrome with a brief review of related literature.
Antithrombin III ; Blood Coagulation Factors ; Blood Platelets ; Cerebral Infarction* ; Child ; Diuretics ; Factor VIII ; Glomerulosclerosis, Focal Segmental* ; Humans ; Hypocalcemia ; Incidence ; Magnetic Resonance Imaging ; Male ; Molecular Weight ; Nephrotic Syndrome* ; Occipital Lobe ; Seizures ; Thrombosis*