Fetal DNA (fDNA) detection in maternal serum is a challenge due to low copy number and the smaller size of fDNA fragments compared to DNA fragments derived from the mother. Massively parallel sequencing (MPS) is a useful technique for fetal genetic analysis that is able to detect and quantify small amounts of DNA. In this study, seven clinical samples of maternal serum potentially containing fDNA were analyzed with a commercial single nucleotide polymorphism (SNP) panel, the HID-Ion AmpliSeq™ Identity Panel, and the results were compared to those from previous studies. Reference profiles for mothers and fetuses were not available, but multiple Y chromosomal SNPs were detected in two samples, indicating that fDNA was present in the serum and thereby validating observations of autosomal SNPs. This suggests that SNP-based MPS can be valuable for fDNA detection, thereby offering an insight into fetal genetic status. This technology could also be used to detect small amounts of DNA in mixed DNA samples for forensic applications.
DNA* ; Fetus ; High-Throughput Nucleotide Sequencing ; Humans ; Mothers ; Polymorphism, Single Nucleotide

PURPOSE: In about 1% of cases, incidental gallbladder cancers (iGBC) are found after routine cholecystectomy. The aim of this study is to compare clinical features of iGBC with benign GB disease and to evaluate factors affecting recurrence and survival. METHODS: Between January 1998 and March 2014, 4,629 patients received cholecystectomy and 73 iGBC patients (1.6%) were identified. We compared clinical features of 4,556 benign GB disease patients with 73 iGBC patients, and evaluated operative outcomes and prognostic factors in 56 eligible patients. RESULTS: The iGBC patients were older and concomitant diseases such as hypertension and anemia were more common than benign ones. And an age of more than 65 years was the only risk factor of iGBC. Adverse prognostic factors affecting patients' survival were age over 65, advanced histology, lymph node metastasis, and lymphovascular invasion on multivariate analysis. Age over 65 years, lymph node involvement, and lymphovascular invasion were identified as unfavorable factors affecting survival in subgroup analysis of extended cholecystectomy with bile duct resection (EC with BDR, n = 22). CONCLUSION: Prior to routine cholecystectomy, incidental GB cancer should be suspected especially in elderly patients. And advanced age, lymph node metastasis, and lymphovascular invasion are important prognostic factors in EC with BDR cohorts.
Aged ; Anemia ; Bile Ducts ; Cholecystectomy* ; Cohort Studies ; Gallbladder Neoplasms* ; Gallbladder* ; Humans ; Hypertension ; Lymph Nodes ; Multivariate Analysis ; Neoplasm Metastasis ; Prognosis ; Recurrence ; Risk Factors

OBJECTIVE: To assess the clinical usefulness of the relatively short instrument, the Korean version of the Mini-Mental State Examination (MMSE-K), for testing the association between cognition and language function in subacute post-stroke aphasia patients. METHODS: Medical charts of 111 post-stroke patients (65 men; age 69.6±10.0 years; 124.6±80.6 days post-onset) were reviewed retrospectively. All patients were assessed longitudinally for aphasia using the validated Korean version of the Western Aphasia Battery (K-WAB) and for cognition using the MMSE-K. Patients were categorized and analyzed according to 3 aphasia-severity clusters. RESULTS: All subscales of the K-WAB showed significant improvement in follow-up assessments in all groups (p<0.05 or p<0.01). Only the scores of orientation, language function, and total score of MMSE-K showed significant improvement in all groups (p<0.01). The more severely impaired group showed stronger Pearson correlation coefficients between cognition and language function. Additionally, comparisons between correlation coefficients showed that the association of improvement in orientation with that of fluency and AQ% (aphasia quotient %) was significant in the more severely impaired group. CONCLUSION: Among subacute post-stroke aphasic patients, patients with more severe aphasia showed greater impairments to cognitive function; in addition, recovery of orientation may be related to recovery of language function.
Aphasia ; Cognition ; Follow-Up Studies ; Humans ; Male ; Retrospective Studies ; Stroke

OBJECTIVE: To investigate the relationship between bone mineral density (BMD) and sagittal spinal balance in the Korean elderly population. METHODS: The retrospective study included subjects aged 60 years and above, who had whole-spine lateral radiography and dual-energy X-ray absorptiometry (DEXA) within a year's gap between each other. Sagittal vertical axis (SVA) for evaluation of sagittal spinal balance and five spinopelvic parameters were measured through radiography. The presence of compression fracture was identified. Correlations of BMD T-scores with SVA and with the spinopelvic parameters were assessed using Pearson correlation coefficient (PCC). Linear regression analyses were performed between SVA and the clinical and radiologic variables. RESULTS: One hundred twenty-two subjects (42 males and 80 females; mean age, 69.93+/-5.5 years) were included in the study. BMD, femur or spine, was not correlated with SVA or any spinopelvic parameters in both genders (PCC<+/-0.2), except that spine BMD in men was associated with sacral slope. Univariate regression analysis revealed association between SVA and lumbar lordosis, pelvic tilt, and compression fractures in both genders; it was also associated with age and pelvic incidence in females and with sacral slope in males. Multivariate linear regression model showed lumbar lordosis and compression fracture as variables affecting SVA in both sexes; pelvic incidence was another factor affecting SVA in women only. CONCLUSION: BMD was not associated with sagittal spinal balance in the aged. Sagittal spinal balance was explained partly by lumbar lordosis and compression fracture. Further study is warranted to understand progression of sagittal imbalance with age.
Absorptiometry, Photon ; Aged ; Animals ; Axis, Cervical Vertebra ; Bone Density* ; Female ; Femur ; Fractures, Compression ; Humans ; Incidence ; Linear Models ; Lordosis ; Male ; Radiography ; Retrospective Studies ; Spine

We analyzed the clinical characteristics and outcome of ileocecal and small bowel intussusceptions (ICI and SBI) in the pediatric patients. From August 2003 to July 2010, 144 children with intussusception were included in this study. We retrospectively reviewed the clinical records and imaging study findings. A total of 86 children with ICI and 58 children with SBI were diagnosed. Children with SBI were older than ICI (36.6+/-24.6 months vs. 24.2+/-21.6 months, p=0.002). Typical symptoms such as irritability, abdominal mass, bloody stool were more frequent in ICI than SBI (p<0.05) patients. In the ICI group, intussusceptums were reduced with air reduction (84.5%), surgery (17.4%), and spontaneity (1.2%). All patients in the SBI group were reduced spontaneously. SBI occurred in older age and was reduced spontaneously more frequently than ICI. Conservative management with close observation with follow-up by ultrasonography is recommended for SBI.
Child ; Follow-Up Studies ; Humans ; Intussusception ; Retrospective Studies

To examine the association between adhesive capsulitis of shoulders and rotator cuff tears determined by ultrasonographic findings. Total 49 consecutive patients were diagnosed as adhesive capsulitis by physical examination and simple radiologic evaluation. Shoulder ultrasonographies were done for them. For 20 subjects, the sensitivity and the specificity of the empty can test for supraspinatus tear were measured. Among 49 subjects, 49.0% (n=24) had rotator cuff tears. The empty can test exhibited the sensitivity of 55.6% and the specificity of 81.8% for the supraspinatus tear. The physical examination of empty can test was not sufficient for the screening of supraspinatus tear. So the radiologic evaluation, for example ultrasonography, may be needed in the diagnosis of rotator cuff tear in adhesive capsulitis patients.
Adhesives ; Bursitis ; Humans ; Mass Screening ; Physical Examination ; Rotator Cuff ; Sensitivity and Specificity ; Shoulder ; Shoulder Pain

BACKGROUND: The purpose of this study was to identify factors associated with recurrent pneumothorax after wedge resection in primary spontaneous pneumothorax in our hospital. MATERIAL AND METHOD: Two hundred thirty-five consecutive patient (98% males; mean age, 23.9+/-4.5 years) who had undergone video-assisted thoracoscopic surgery (VATS) were reviewed retrospectively. The two groups were divided as follows: group A, non-recurrent patients (225 patients [96%]); and group B, recurrent group (10 patients [4%]); the risk factors were compared between the two groups. The single and multiple factors that influenced the recurrence rate were analyzed using Cox's proportional hazard model. RESULT: There were no significant differences between the recurrent and non-recurrent groups in terms of gender, smoking, site of recurrence, degree of collapse, operative time, and number or weight of resected bullae. The recurrence rate was significantly more common in the following: younger ages, increased height/weight ratio, longer initial air leakage period, and shorter duration of chest drainage. Early aggressive exercise (<30 days) of patients after wedge resection increased the tendency for recurrence. CONCLUSION: Thoracoscopic wedge resection does not have a higher recurrence rate than open thoracotomy. However, young age, height/weight ratio, continuous air, and duration of chest tube placement were risk factors for a recurrent pneumothorax.
Blister ; Chest Tubes ; Drainage ; Humans ; Operative Time ; Pneumothorax ; Proportional Hazards Models ; Recurrence ; Retrospective Studies ; Risk Factors ; Smoke ; Smoking ; Thoracic Surgery, Video-Assisted ; Thoracotomy ; Thorax

OBJECTIVE: Microscopic and endoscopic transsphenoidal approach (TSA) are major surgical techniques in the treatment of pituitary adenoma. Endoscopic endonasal transsphenoidal approach (EETSA) has been increasingly used for pituitary adenomas, however, its surgical outcome particularly in functioning pituitary adenoma has been debated. Here, we investigated the endocrine outcome of the patients with growth hormone (GH) and adrenocorticotropic hormone (ACTH) secreting pituitary adenoma treated by EETSA. METHODS: We treated 80 patients with pituitary adenoma by EETSA since 2004, of which 12 patients were affected by functioning pituitary adenomas (9 GH, 3 ACTH, 0 PRL; 9 macro, 3 micro). Surgical outcome of those patients treated by EETSA was compared with that of the 11 functioning pituitary adenoma patients (8 GH, 3 ACTH; 8 macro, 3 micro) who underwent sublabial microscopic TSA between 1997 and 2003. RESULTS: Imaging remission based on postoperative MRI was achieved in 8 (73%) and hormonal remission in 5 (45%) of 11 patients treated by sublabial microscopic TSA. Imaging remission was observed in 10 (83%, p=0.640) and hormonal remission in 10 (83%, p=0.081) of 12 patients by EETSA. CSF leakage was noticed in 2 (17%) of EETSA group and in 2 (18%) of sublabial microscopic TSA group. Panhypopituitarism was observed in 1 (9%) of EETSA group and in 3 (27%) of sublabial microscopic TSA group. CONCLUSION: EETSA appears to be an effective and safe method for the treatment of functioning pituitary adenomas.
ACTH-Secreting Pituitary Adenoma ; Adrenocorticotropic Hormone ; Endoscopy ; Growth Hormone ; Growth Hormone-Secreting Pituitary Adenoma ; Humans ; Hypopituitarism ; Pituitary Neoplasms

Appendiceal bleeding is a kind of lower gastrointestinal bleeding. For treatment, it is essential to identify the location of the lower gastrointestinal tract bleeding. Appendiceal bleeding has some diagnostic difficultie. It is a very rare condition, and colonoscopy shows only the appendiceal orfice. Recently, multidetector computed tomography has increasingly been used in the diagnostic evaluation of most vascular diseases. Herein, we report the case of an appendiceal bleeding diagnosed by using abdominal multidetector computed tomography, and we present a the literature.
Appendix* ; Colonoscopy ; Hemorrhage* ; Lower Gastrointestinal Tract ; Multidetector Computed Tomography* ; Vascular Diseases

Extracorporeal membrane oxygenation (ECMO) provides mechanical cardiopulmonary support and has been used for children with severe respiratory failure, intractable heart failure, sepsis, pulmonary hypertension, and as a bridge to heart transplantation. There have been few reports of the use of ECMO to provide cardiac support in children with low cardiac output as a result of arrhythmias. We report the case of a 15-year-old female with circulatory collapse due to refractory ventricular arrhythmia after one and a half repair in Ebstein's anomaly, who was successfully resuscitated using ECMO.
Adolescent ; Arrhythmias, Cardiac ; Cardiac Output, Low ; Child ; Ebstein Anomaly* ; Extracorporeal Circulation ; Extracorporeal Membrane Oxygenation* ; Female ; Heart Failure ; Heart Transplantation ; Humans ; Hypertension, Pulmonary ; Respiratory Insufficiency ; Sepsis ; Shock ; Tachycardia, Ventricular*