Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.
Aneuploidy ; Counseling ; Diagnosis ; DNA ; Down Syndrome ; Female ; Fetus ; Genome ; High-Throughput Nucleotide Sequencing ; Humans ; Korea ; Mass Screening ; Mosaicism* ; Plasma ; Pregnancy* ; Pregnancy, Multiple ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Trisomy ; Turner Syndrome*

Stevens-Johnson syndrome (SJS) is a serious and potentially life-threatening disease. Vanishing bile duct syndrome (VBDS) is a rare cause of progressive cholestasis. Both syndromes are usually associated with the use of specific drugs. VBDS in patients with SJS is most commonly associated with drug hypersensitivity. To our knowledge, to date, the literature contains only a single report of toxic epidermal necrolysis associated with VBDS in Korea. We report a case of drug-induced SJS with acute onset of VBDS and present a review of the literature in this context. This case highlights the importance of awareness among clinicians regarding drug reactions, their severity, as well as diagnostic modalities and optimal management strategies in these cases.
Bile Ducts ; Bile ; Cholestasis ; Drug Hypersensitivity ; Humans ; Korea ; Stevens-Johnson Syndrome

Adenoid cystic carcinoma (ACC) is a malignant glandular neoplasm that commonly occurs in the salivary glands. Primary cutaneous adenoid cystic carcinoma (PCACC) is a rare form of ACC that primarily presents on the skin. A diagnosis of a primary tumor arising in the skin can be made only after excluding metastatic deposits from other, more common sites. PCACC tends to infiltrate and recur locally but rarely metastasizes to distant organs and lymph nodes. To our knowledge, this is the first reported case of a PCACC of the chest wall in Korea. We report this case and literature review to raise awareness of this rare tumor.

PURPOSE: The purpose of this study was to analyze the histologic concordance of sonographically guided core needle biopsy for phyllodes tumors or fibroepithelial lesions with cellular stroma of the breast by comparing this with the outcomes of excision biopsy and to identify any sonographic features that are helpful to predict phyllodes tumors. MATERIALS AND METHODS: We retrospectively reviewed 60 breast masses that were diagnosed as phyllodes tumors (n = 43) or fibroepithelial lesions with cellular stroma (n = 17) on a sonographically guided core needle biopsy. The tumors were all subsequently excised by surgery. The sonographic features were compared between the phyllodes tumors and the non-phyllodes tumors according to the results of excision biopsy. RESULTS: By the results on excision biopsy, there were 48 (80%) phyllodes tumors and 12 (20%) non-phyllodes tumors. Phyllodes tumors were diagnosed at a rate of 90.7% (39/43) for the nodules with phyllodes tumors on the sonographically guided core needle biopsy, and at a rate of 52.9% (9/17) for the nodules with fibroepithelial lesions with cellular stroma on the sonographically guided core needle biopsy. On sonography, heterogeneous internal echotexture (58% vs. 17%, respectively, p = 0.0239), clefts (56% vs. 17%, respectively, p = 0.0331) and horizontal linear striations (71% vs. 33%, respectively, p = 0.0221) were significantly more frequent in the phyllodes tumors than that in the non-phyllodes tumors. CONCLUSION: Identification of a heterogeneous-internal echotexture, clefts and horizontal linear striations on sonography might help differentiate phyllodes tumors from non-phyllodes tumors.
Biopsy ; Biopsy, Large-Core Needle ; Breast ; Needles ; Phyllodes Tumor ; Retrospective Studies

Background: and Purpose: Ventricle enlargement has been implicated in the pathophysiology of Alzheimer’s disease (AD). We studied the relationship between ventricular size and cognitive function in patients with AD. We focused on the effect of the initial ventricle size on the rate of cognitive decline in patients with AD. Methods: A retrospective analysis of probable clinical AD participants with more than 2 magnetic resonance imaging images was performed. To measure ventricle size, we used visual rating scales of (1) Cardiovascular Health Study (CHS) score and (2) conventional linear measurement method. Results: Increased clinical dementia rating (CDR) was correlated with a decreased MiniMental Status Examination (MMSE) score, and increased medial temporal lobe atrophy (MTLA) and global ventricle size (p<0.001, p<0.001, p=0.021, respectively). There was a significant correlation between the change in cognitive function in the group (70%–100%ile) with a large initial ventricle size (p=0.021 for ΔCDR, p=0.01 for ΔMMSE), while the median ventricle size (30%–70%ile) showed correlation with other brain structural changes (MTLA, frontal atrophy [FA], and white matter) (p=0.036 for initial MTLA, p=0.034 for FA). Conclusions In this study, the initial ventricle size may be a potential new imaging biomarker for initial cognitive function and clinical progression in AD. We found a relationship between the initial ventricle size and initial AD-related brain structural biomarkers.

BACKGROUND: Pulmonary artery hypertension is characterized by persistent increase of vascular resistance, and is associated with right ventricle failure. We investigated changes of plasma renin, serum aldosterone, angiotensin converting enzyme (ACE) concentrations, ACE gene expressions and protein contents after bosentan treatment. METHODS: Six-week-old male Sprague-Dawley rats were divided into three groups: control (C) group, monocrotaline (M) group, and bosentan (B) group. Groups M and B were subcutaneously administered with 60 mg/kg of monocrotaline. In group B, 20 mg/kg/day of bosentan was administered by gavage twice a day. The rats were sacrificed after 1, 5, 7, 14, and 28 days. Changes of ACE gene expressions were analyzed by reverse transcription-polymerase chain reaction. Also, plasma renin, serum aldosterone, and ACE levels were measured. RESULTS: Serum aldosterone levels were significantly increased in group M compared with group C and significantly decreased after bosentan treatment on day 28. Serum ACE concentrations were significantly decreased compared with group M after bosentan treatment on day 28. Gene expressions of ACE were significantly increased in group M compared with group C on day 5 and significantly decreased after bosentan treatment on day 7 and 14. ACE protein contents significantly increased in group M compared with group C in week 2 and 4. It significantly decreased after bosentan treatment in week 2. CONCLUSIONS: The renin-angiotensin system is associated with pulmonary artery hypertension. To investigate the effects of bosentan on the renin-angiotensin system in pulmonary artery hypertension, further studies on the effects of bosentan according to different doses are required in the future.
Aldosterone ; Angiotensins ; Animals ; Gene Expression ; Heart Ventricles ; Humans ; Hypertension ; Hypertension, Pulmonary ; Male ; Monocrotaline ; Peptidyl-Dipeptidase A ; Plasma ; Pulmonary Artery ; Rats ; Rats, Sprague-Dawley ; Renin ; Renin-Angiotensin System ; Sulfonamides ; Vascular Resistance

OBJECTIVES: To characterize the ultrasonographic findings of struma ovarii, a rare ovarian tumor composed solely or predominantly of thyroid tissue or the tumor in which hyperthyroidism results from the ovarian thyroid tissue. MATERIALS AND METHODS: Using ultrasonography, preoperative ultrasonographic findings of pathologically proven struma ovarii in six patients were retrospectively evaluated for the site, size, margin, nature (cystic, solid, mixed), septa, mural nodule, calcification, fat, and metastasis. The findings were compared with pathologic findings. RESULTS: All six were unilateral, and smooth tumor margins, 5 were mixed cystic and solid tumors, regular septa and scattered echogenic spots within cyst. One of our cystic tumor (bilocular) had hyperechoic mural nodules. Calcification was found in one tumor and no fat. Malignant change or metastasis was not any tumor. CONCLUSION: Most cases of struma ovarii occurred unilaterally within ovarian teratomas in premeno- pausal women, Struma ovarii has a characteristic ultrasonographic appearance of a complex mass of multiple cysts and solid components with scattered echogenic spots within cyst.
Female ; Humans ; Hyperthyroidism ; Neoplasm Metastasis ; Retrospective Studies ; Struma Ovarii* ; Teratoma ; Thyroid Gland ; Ultrasonography

BACKGROUND: This study purposed to compare the difference on medical utilization and health expenditure of baby boomer generation by depression between gender. METHODS: Korea Welfare Panel Survey 2016, provided by the Korea Institute for Health and Social Affairs, was used for the analysis. For the research, we used the two-part model, yes or no of use (part 1), and frequency of use (part 2) for medical utilization. The dependent variables are the whether or not to use of hospitalization services, outpatient services, length of stay, outpatient service visits, and health expenditure. And the independent variables are used as the predisposing (education, spouse presence), enabling (insurance type, private insurance, economic activity, income), and need (chronic disease, self-rated health, disability) factors in the Andersen behavior model. Depression was used as intervening variables. Structural equation model and multiple group analysis by gender were used. RESULTS: There were differences in the medical care usage and cost between men and women in baby boomer. For men, mediating effects of depression were present at the hospitalization (yes/no), length of stay, and health expenditure. On the other hand, for women, the mediating effect of depression was found only at the outpatient visits. Specially, depression was working at the medical services by the different way between gender. The size of effect (multiple group analysis) was affected by significant differences between men and women. CONCLUSION: This study found that the mediating effect of depression is increased medical usage and health expenditure and the effect factors are different by gender. Therefore, it is necessary to establish a medical care policy considering the socio-economic characteristics of baby boomers.
Depression ; Female ; Hand ; Health Expenditures ; Hospitalization ; Humans ; Insurance ; Korea ; Length of Stay ; Male ; Negotiating ; Outpatients ; Population Growth ; Sex Characteristics ; Spouses

PURPOSE: The purpose of this study was to determine if the sonographic features of mammary fibromatosis had correlation with the pathologic findings. MATERIALS AND METHODS: We identified four cases of fibromatosis of the breast at our institution over a 10-year period. The patients were all women, and they ranged from 25 to 48 years of age (mean, 34.3 years). All four patients complained of palpable breast masses and were subsequently diagnosed with mammary fibromatosis. We retrospectively reviewed their imaging findings. RESULTS: Mammography obtained in one patient revealed architectural distortion. On sonography, all four cases showed spiculated, irregular, hypoechoic masses that could not be differentiated from malignant lesions. After surgical excision and vacuum-assisted biopsy of the masses in four patients, there was no recurrence on clinical or sonographic follow-up over a 13-36 month period. CONCLUSION: Although mammary fibromatosis is a very rare condition, it should be included in the differential diagnosis when an un-calcified, spiculated, irregular and hypoechoic masses are encountered on breast sonography.
Biopsy ; Breast ; Diagnosis, Differential ; Female ; Fibroma ; Follow-Up Studies ; Humans ; Mammography ; Recurrence ; Retrospective Studies