Gastrointestinal AA Amyloidosis following Recurrent SARS-CoV-2 Infection: A Case Report

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been associated with the overproduction of serum amyloid A protein, resulting in systemic AA amyloidosis. In this report, we describe a case of gastrointestinal (GI) AA amyloidosis following SARS-CoV-2 infection. A 75-year-old male presented to the emergency department with upper abdominal pain 6 weeks post kidney transplantation. He had a history of SARS-CoV-2 infection 4 weeks prior. On day 7 of hospitalization, while receiving conservative management, the patient developed symptoms of cough and fever, leading to a diagnosis of SARS-CoV-2 reinfection. The patient’s abdominal pain persisted, and hematochezia developed on day 30 of hospitalization. Esophagogastroduodenoscopy and colonoscopy revealed multiple ulcers in the stomach and colon, with histologic findings revealing the presence of amyloid A. The patient was managed conservatively and was also given remdesivir for the SARS-CoV-2 infection. His clinical symptoms subsequently improved, and endoscopic findings demonstrated improvement in multiple gastric ulcers. GI amyloidosis may be a subacute complication following SARS-CoV-2 infection in immunocompromised patients.

Successful Simultaneous Treatment of Benign Stricture and Colonic Neoplasm Arising from Colonic Interposition after Esophagectomy: A Case Report / 대한소화기학회지

Colonic interposition is the main procedure used in esophageal reconstruction. We report a rare case of simultaneous treatment of an anastomotic site stricture and a neoplasm in the interpositioned colon. A 69-year-old female visited our outpatient clinic with symptoms of progressive dysphagia for 1 year. At the age of 30 years, the patient underwent esophagectomy with retrosternal colonic interposition because of severe esophageal burns after chemical ingestion. Upper gastrointestinal endoscopy revealed stricture at the anastomosis site and a 10-mm flat elevated high-grade dysplasia in the interpositioned colon. First, through-the-scope balloon dilatation was performed for strictures. However, stenosis was observed during the second upper gastrointestinal endoscopy session.Therefore, a second session of through-the-scope balloon dilatation was performed, and simultaneously, endoscopic submucosal dissection was also successfully performed. After 2 months of follow-up, stenosis persisted; consequently, balloon dilatation was performed. No recurrence of neoplasm was confirmed endoscopically. Through-the-scope balloon dilatation of the stricture site and simultaneous endoscopic submucosal dissection of the neoplasm in the interpositioned colon were successfully performed.

Recurrence, Reoperation, Pregnancy Rates, and Risk Factors for Recurrence after Ovarian Endometrioma Surgery: Long-Term Follow-Up of 756 Women

Purpose@#The aims of this study were to evaluate the cumulative recurrence, reoperation, and pregnancy rates after ovarian endometrioma surgery at a single institution for more than a 5-year follow-up period. @*Materials and Methods@#This study was conducted as a retrospective chart review of patients with ovarian endometrioma who underwent surgery between January 2008 and March 2016. Study subjects included premenopausal women with at least 5 years of follow-up. Exclusion criteria were patients with stage I or II ovarian endometrioma, those who underwent hysterectomy or bilateral oophorectomy, and presence of residual ovarian lesions on the first postoperative ultrasonography at 3–6 months. Recurrence was defined as a cystic mass by ultrasonography. @*Results@#A total of 756 patients were recruited. The median follow-up duration was 85.5 months (interquartile range, 71–107 months). Recurrent endometrioma was detected in 27.9% patients, and reoperation was performed in 8.3% patients. Cumulative rates at 24, 36, 60, and 120 months were 5.8%, 8.7%, 15.5% and 37.6%, respectively, for recurrence and 0.1%, 0.5%, 2.9%, and 15.1%, respectively, for reoperation. After multivariable analysis, age ≤31 years [hazard ratio (HR)=2.108; 95% confidence interval (CI)=1.522–2.921; p<0.001], no subsequent pregnancy (HR=1.851; 95% CI=1.309–2.617; p<0.001), and postoperative hormonal treatment ≤15 months (HR=2.869; 95% CI=2.088–3.941; p<0.001) were significant risk factors for recurrent endometrioma. Among 315 patients who desired pregnancy, 54.0% were able to have a successful pregnancy and delivery. @*Conclusion@#Considering that longer postoperative hormonal treatment is the sole modifiable factor for recurrent endometrioma, we recommend long-term hormonal treatment until subsequent pregnancy, especially in younger women.

Primary Esophageal Malignant Melanoma in Korea: Clinical features, Management and Prognosis / 대한소화기학회지

Primary esophageal melanoma is a rare disease with a poor prognosis. To date, 18 cases have been reported in Korea. Four patients visited the Chonnam National University Hwasun Hospital with dysphagia, followed by epigastric pain and discomfort, odynophagia, and weight loss. Esophagogastroduodenoscopy revealed a black pigmented polypoid mass, protruding mass, or black-pigmented flat lesions. Two patients had distant metastases and lymphadenopathies in imaging studies. Two patients underwent esophagectomy and intrathoracic esophagogastrostomy. One patient was treated with chemotherapy and interferon-alpha. The other patient declined further treatment. The routine histology using H&E revealed brown-colored atypical melanocytes. Immunohistochemical staining exhibited strong reactivity for Melan-A, S-100, and HMB-45 proteins. The biopsy specimens were interpreted to be malignant melanoma.One patient had multiple distant metastases 13 months after surgery. The other patient had no recurrence for 33 months after surgery. The patient treated with chemotherapy and interferon-alpha showed disease progression in the follow-up examination. Primary esophageal melanoma in Korea is a rare disease characterized by aggressive behavior, early metastasis, and poor prognosis.

Insight into the pathogensis of polycystic ovarian syndrome

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, which is characterized by the oligo/ anovulation, hyperandrogenism (HA) and polycystic ovarian morphology which are diagnostic criteria. PCOS has diverse clinical aspects in addition to those diagnostic criteria including increased risk for cardiovascular diseases, metabolic syndrome, dyslipidemia, type 2 diabetes and impaired fertility. Because of the heterogeneity of the disease, the pathogenesis of the disease has not been elucidated yet. Therefore, there is no cure for the endocrinopathy. HA and insulin resistance (IR) has been considered two major pillars of the pathogenesis of PCOS. Recent advances in animal studies revealed the critical role of neuroendocrine abnormalities in developing PCOS. Several pathways related to neuroendocrine origin have been investigated such as hypothalamus pituitary ovarian axis, hypothalamus pituitary adrenal axis and hypothalamus pituitary adipose axis. This review summarizes the current knowledge about the role of HA and IR in developing PCOS. In addition, we review the results of recent genome wide association studies for PCOS. This new perspective improves our understanding of the role of neuroendocrine origins in PCOS and suggest a novel potential therapeutic target for the treatment of PCOS.

Robotic-assisted laparoscopic myomectomy: the feasibility in single-site system

OBJECTIVE: To evaluate the feasibility of robotic single-site myomectomy (RSSM). METHODS: Medical records of 355 consecutive women who underwent robotic-assisted laparoscopic myomectomy were retrospectively reviewed. Clinical characteristics were compared between multi-site and single-site systems. After 1:1 propensity score matching for the total myoma number, largest myoma size, and total tumor weight (105 women in each group), surgical outcomes were also compared between the 2 systems. RESULTS: A total of 105 (29.6%) and 250 (70.4%) women underwent RSSM and robotic multi-site myomectomy (RMSM), respectively. RSSM was more commonly performed in women with lower body mass index (21.6 vs. 22.5 kg/m2, P=0.014), without peritoneal adhesions (7.6% vs. 24.8%, P < 0.001), and less (2.6 vs. 4.6, P < 0.001) and smaller (6.3 vs. 7.7 cm, P < 0.001) myomas compared to RMSM. After propensity score matching, the largest myoma size (P=0.143), total myoma number (P=0.671), and tumor weight (P=0.510) were not significantly different between the 2 groups. Although the docking time was significantly longer in the RSSM group (5.1 vs. 3.8 minutes, P=0.005), total operation time was similar between RSSM and RMSM groups (145.9 vs. 147.3 minutes, P=0.856). Additionally, hemoglobin decrement was lower in the RSSM group than in the RMSM group (1.4 vs. 1.8 g/dL, P=0.009). No surgical complication was observed after RSSM, while 1 ileus and 2 febrile complications occurred in women that underwent RMSM (0% vs. 2.9%, P=0.246). CONCLUSION: Although RMSM is preferred for women with multiple large myomas in real clinical practice, RSSM seems to be a feasible surgical method for less complicated cases, and is associated with minimal surgical morbidity.

The Effect of Diagnosis-Related Group Payment System on Quality of Care in the Field of Obstetrics and Gynecology among Korean Tertiary Hospitals

PURPOSE: To examine changes in clinical practice patterns following the introduction of diagnosis-related groups (DRGs) under the fee-for-service payment system in July 2013 among Korean tertiary hospitals and to evaluate its effect on the quality of hospital care. MATERIALS AND METHODS: Using the 2012–2014 administrative database from National Health Insurance Service claim data, we reviewed medical information for 160400 patients who underwent cesarean sections (C-secs), hysterectomies, or adnexectomies at 43 tertiary hospitals. We compared changes in several variables, including length of stay, spillover, readmission rate, and the number of simultaneous and emergency operations, from before to after introduction of the DRGs. RESULTS: DRGs significantly reduced the length of stay of patients undergoing C-secs, hysterectomies, and adnexectomies (8.0±6.9 vs. 6.0±2.3 days, 7.4±3.5 vs. 6.4±2.7 days, 6.3±3.6 vs. 6.2±4.0 days, respectively, all p < 0.001). Readmission rates decreased after introduction of DRGs (2.13% vs. 1.19% for C-secs, 4.51% vs. 3.05% for hysterectomies, 4.77% vs. 2.65% for adnexectomies, all p < 0.001). Spillover rates did not change. Simultaneous surgeries, such as colpopexy and transobturator-tape procedures, during hysterectomies decreased, while colporrhaphy during hysterectomies and adnexectomies or myomectomies during C-secs did not change. The number of emergency operations for hysterectomies and adnexectomies decreased. CONCLUSION: Implementation of DRGs in the field of obstetrics and gynecology among Korean tertiary hospitals led to reductions in the length of stay without increasing outpatient visits and readmission rates. The number of simultaneous surgeries requiring expensive operative instruments and emergency operations decreased after introduction of the DRGs.

Protective Effect of Right Ventricular Mitochondrial Damage by Cyclosporine A in Monocrotaline-induced Pulmonary Hypertension

BACKGROUND AND OBJECTIVES@#Mitochondria play a key role in the pathophysiology of heart failure and mitochondrial permeability transition pore (MPTP) play a critical role in cell death and a critical target for cardioprotection. The aim of this study was to evaluate the protective effects of cyclosporine A (CsA), one of MPTP blockers, and morphological changes of mitochondria and MPTP related proteins in monocrotaline (MCT) induced pulmonary arterial hypertension (PAH).@*METHODS@#Eight weeks old Sprague-Dawley rats were randomized to control, MCT (60 mg/kg) and MCT plus CsA (10 mg/kg/day) treatment groups. Four weeks later, right ventricular hypertrophy (RVH) and morphological changes of right ventricle (RV) were done. Western blot and reverse transcription polymerase chain reaction (RT-PCR) for MPTP related protein were performed.@*RESULTS@#In electron microscopy, CsA treatment prevented MCT-induced mitochondrial disruption of RV. RVH was significantly increased in MCT group compared to that of the controls but RVH was more increased with CsA treatment. Thickened medial wall thickness of pulmonary arteriole in PAH was not changed after CsA treatment. In western blot, caspase-3 was significantly increased in MCT group, and was attenuated in CsA treatment. There were no significant differences in voltage-dependent anion channel, adenine nucleotide translocator 1 and cyclophilin D expression in western blot and RT-PCR between the 3 groups.@*CONCLUSIONS@#CsA reduces MCT induced RV mitochondrial damage. Although, MPTP blocking does not reverse pulmonary pathology, it may reduce RV dysfunction in PAH. The results suggest that it could serve as an adjunctive therapy to PAH treatment.

Protective Effect of Right Ventricular Mitochondrial Damage by Cyclosporine A in Monocrotaline-induced Pulmonary Hypertension

BACKGROUND AND OBJECTIVES: Mitochondria play a key role in the pathophysiology of heart failure and mitochondrial permeability transition pore (MPTP) play a critical role in cell death and a critical target for cardioprotection. The aim of this study was to evaluate the protective effects of cyclosporine A (CsA), one of MPTP blockers, and morphological changes of mitochondria and MPTP related proteins in monocrotaline (MCT) induced pulmonary arterial hypertension (PAH). METHODS: Eight weeks old Sprague-Dawley rats were randomized to control, MCT (60 mg/kg) and MCT plus CsA (10 mg/kg/day) treatment groups. Four weeks later, right ventricular hypertrophy (RVH) and morphological changes of right ventricle (RV) were done. Western blot and reverse transcription polymerase chain reaction (RT-PCR) for MPTP related protein were performed. RESULTS: In electron microscopy, CsA treatment prevented MCT-induced mitochondrial disruption of RV. RVH was significantly increased in MCT group compared to that of the controls but RVH was more increased with CsA treatment. Thickened medial wall thickness of pulmonary arteriole in PAH was not changed after CsA treatment. In western blot, caspase-3 was significantly increased in MCT group, and was attenuated in CsA treatment. There were no significant differences in voltage-dependent anion channel, adenine nucleotide translocator 1 and cyclophilin D expression in western blot and RT-PCR between the 3 groups. CONCLUSIONS: CsA reduces MCT induced RV mitochondrial damage. Although, MPTP blocking does not reverse pulmonary pathology, it may reduce RV dysfunction in PAH. The results suggest that it could serve as an adjunctive therapy to PAH treatment.

Uterine fibroid shrinkage after short-term use of selective progesterone receptor modulator or gonadotropin-releasing hormone agonist

OBJECTIVE: The aim of this study was to evaluate the effect of short-term use of selective progesterone receptor modulator (SPRM) or gonadotropin-releasing hormone (GnRH) agonist on uterine fibroid shrinkage among Korean women. METHODS: This retrospective study involved 101 women with symptomatic uterine fibroids who received ulipristal acetate (SPRM, n=51) and leuprolide acetate (GnRH agonist, n=50) for 3 months between November 2013 and February 2015. The fibroid volume was measured both before and after treatment using ultrasonography, computed tomography, and magnetic resonance imaging. The outcomes were compared between the SPRM and GnRH agonist groups. RESULTS: The median rate of fibroid volume reduction after SPRM treatment was 12.4% (IQR −14.5% to 40.5%) which was significantly lower than the reduction rate observed after GnRH agonist treatment (median 34.9%, IQR 14.7% to 48.6%, P=0.004). 19 of 51 (37.3%) patients with SPRM treatment did not show any response of volume shrinkage, while 7 of 50 (14.0%) women with GnRH agonist showed no response (P=0.007). CONCLUSION: Short-term SPRM treatment yields lower volume reduction than GnRH agonist treatment in Korean women with symptomatic fibroids. Further large-scale randomized trials are needed to confirm our findings.

A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies

Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental disomy (UPD). Noninvasive prenatal test (NIPT) reflects the genomic constitution of the placenta, not of the fetus itself. Feto-placental discrepancy can therefore cause false-positive (trisomy) NIPT results. These discordant NIPT results can serve as important clues to find UPD associated with confined placental mosaicism. We report a case with maternal UPD of chromosome 20, detected by NIPT of 1,000 high-risk pregnancies, carried out for detecting chromosomal abnormalities in Koreans.

Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

Therapeutic outcomes of methotrexate injection in unruptured interstitial pregnancy

OBJECTIVE: To examine the therapeutic outcomes of methotrexate (MTX) in the treatment of unruptured interstitial pregnancy. METHODS: We reviewed the medical records of patients who were diagnosed with interstitial pregnancy and received MTX as first-line treatment between January 2003 and July 2014 at CHA Gangnam Medical Center. The treatment success rates and subsequent pregnancy outcomes were examined. RESULTS: Ninety-seven patients were diagnosed with interstitial pregnancy between January 2003 and July 2014. Of them, 38 initially received MTX treatment. The diagnosis was made at a median of 6+3 weeks (5+0 to 11+3 weeks). Thirty patients received a systemic MTX injection, while the other 8 received a local MTX injection. Systemic treatment composed of an 8-day alternating MTX regimen, single-dose regimen, or high-dose regimen (100 mg/m2 + 200 mg/m2 intravenously over 12 hours). The local injection consisted of a direct MTX injection into the gestational sac with or without systemic MTX injection. Twenty-one patients (55.3%) were successfully treated with MTX. However, MTX therapy failed in 17 patients (44.7%), who required surgery. Mode of MTX treatment was the only predictive variable of MTX treatment success (P=0.039). Treatment success was seen in 7 of 8 patients (87.5%) in the local MTX group vs. 14 of 30 patients (46.7%) in the systemic MTX group. After treatment, 13 patients attempted a successive pregnancy; of them, 10 patients had a confirmed clinical pregnancy and healthy live birth. CONCLUSION: Combined MTX treatment including a local injection might be an initial approach to the treatment of interstitial pregnancy.

Dilatation and curettage is more accurate than endometrial aspiration biopsy in early-stage endometrial cancer patients treated with high dose oral progestin and levonorgestrel intrauterine system / 부인종양

OBJECTIVE: To determine whether less invasive endometrial (EM) aspiration biopsy is adequately accurate for evaluating treatment outcomes compared to the dilatation and curettage (D&C) biopsy in early-stage endometrial cancer (EC) patients treated with high dose oral progestin and levonorgestrel intrauterine system (LNG-IUS). METHODS: We conducted a prospective observational study with patients younger than 40 years who were diagnosed with clinical stage IA, The International Federation of Gynecology and Obstetrics grade 1 or 2 endometrioid adenocarcinoma and sought to maintain their fertility. The patients were treated with medroxyprogesterone acetate 500 mg/day and LNG-IUS. Treatment responses were evaluated every 3 months. EM aspiration biopsy was conducted after LNG-IUS removal followed D&C. The tissue samples were histologically compared. The diagnostic concordance rate of the two tests was examined with κ statistics. RESULTS: Twenty-eight pairs of EM samples were obtained from five patients. The diagnostic concordance rate of D&C and EM aspiration biopsy was 39.3% (κ value=0.26). Of the seven samples diagnosed as normal with D&C, three (42.8%) were diagnosed as normal by using EM aspiration biopsy. Of the eight samples diagnosed with endometrioid adenocarcinoma by using D&C, three (37.5%) were diagnosed with endometrioid adenocarcinoma by using EM aspiration biopsy. Of the 13 complex EM hyperplasia samples diagnosed with the D&C, five (38.5%) were diagnosed with EM hyperplasia by using EM aspiration biopsy. Of the samples obtained through EM aspiration, 46.4% were insufficient for histological evaluation. CONCLUSION: To evaluate the treatment responses of patients with early-stage EC treated with high dose oral progestin and LNG-IUS, D&C should be conducted after LNG-IUS removal.

An overview of current knowledge about cell-free RNA in amniotic fluid

Cell-free nucleic acids (cf-NAs) originate in trophoblasts and are detected in the maternal plasma. Using innovative bioinformatic technologies such as next-generation sequencing, cf-NAs in the maternal plasma have been rapidly applied in prenatal genetic screening for fetal aneuploidy. Amniotic fluid is a complex and dynamic fluid that provides growth factors and protection to the fetus. In 2001, the presence of cf-NA in amniotic fluid was reported. Amniotic fluid is in direct contact with the fetus and is derived from fetal urine and maternal and fetal plasma. Therefore, these genetic materials have been suggested to reflect fetal health and provide real-time genetic information regarding fetal development. Recently, several studies evaluated the global gene expression changes of amniot ic fluid cell-free RNA according to gestational age. In addition, by analyzing the transcriptome in the amniotic fluid of fetal aneuploidy, potential key pathways and novel biomarkers for fetal chromosomal aneuploidy were identified. Here, we review the current knowledge of cell-free RNA in amniotic fluid and suggest future research directions.

Maternal antimullerian hormone as a predictor of fetal aneuploidy occurring in an early pregnancy loss

OBJECTIVE: The purpose of the study was to examine the relationship between the parameter representing ovarian reserve and the fetal aneuploidy in early spontaneous miscarriage. METHODS: A multicenter retrospective cohort study was performed in patients who were diagnosed with early pregnancy loss (< or =13 gestational weeks) and examined for fetal karyotype at the CHA Gangnam Medical Center, CHA Bundang Medical Center, and CHA Gumi Medical Center between January 2011 and December 2012. Karyotyping was performed by the Genetic Laboratory of the Fertility Center of CHA Gangnam Medical Center. Medical records were reviewed for demographics, karyotype analysis and hormonal assay of ovarian reserve including antimullerian hormone (AMH) and follicle stimulating hormone. Statistical analysis was performed using SPSS software. RESULTS: A total 462 patients were included in this study. The mean age of the patients was 35.31+/-4.12 years and the mean AMH level was 3.88+/-3.50 ng/mL (n=195). Two hundred eleven conceptuses (45.7%) of patients showed the euploid and 251 (54.3%) showed the aneuploid. There are significant differences in maternal age, AMH and gestational age between fetal euploid and aneuploid groups (34.46+/-4.35 vs. 36.04+/-3.78 years, P<0.001; 4.60+/-3.86 vs. 3.43+/-3.18 ng/mL, P=0.022; 7.67+/-1.54 vs. 8.27+/-1.46 weeks, P<0.001, respectively). Multivariate analysis revealed that low AMH level and early gestational age were maternal age-independent markers for fetal aneuploid (P<0.001 and P=0.045, respectively). CONCLUSION: Low maternal AMH level might be a predicting marker for fetal aneuploid in early pregnancy loss.

Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

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.

Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

Chronic renal failure induces cell death in rat hippocampal CA1 via upregulation of alphaCaMKII/NR2A synaptic complex and phosphorylated GluR1-containing AMPA receptor cascades

BACKGROUND: N-methyl-D-aspartate (NMDA) and alpha-amino-3-hydroxy-5-methyl-isoxazole-4-propinoic acid (AMPA) receptors bound to postsynaptic density-95 (PSD-95) and alpha isoform of calcium/calmodulin-dependent protein kinase II (alphaCaMKII) is fundamentally involved in the regulation of working memory. The aim of present study was to investigate the alterations of NMDA and AMPA receptors responsible for hippocampal synaptic dysfunction and selective neuronal cell death after chronic renal failure (CRF) which may be associated with impairment of working memory. METHODS: Altered interactions between NMDA and AMPA receptors and PSD-95 and alphaCaMKII were analyzed in the cornu ammonis (CA) 1 and CA3/dentate gyrus (DG) subfields of the uremic rat hippocampi using the immunoblotting and immunoprecipitation methods. RESULTS: Uremia induced by CRF produced necrotic cell death and decreased neuronal nucleoli protein levels in the hippocampal CA1 subfield, but not in the CA3/DG subfields. The CA1 subfields of CRF rats exhibited significant decreases and increases, respectively, in the expressions of PSD-95/NR2B and alphaCaMKII/NR2A synaptic complex. Moreover, increased phosphorylation of glutamate receptor type 1 (GluR1) AMPA receptor at ser831 was observed in the CA1 subfield after CRF. CONCLUSION: These hippocampal CA1 neuronal vulnerability may be responsible for memory dysfunction after CRF as mediated by an increase in NR2A-containing NMDA receptors bound to alphaCaMKII and subsequent activation of GluR1-containing AMPA receptors caused by the phosphorylation of GluR1 at ser831.

Comparison of Obstetric and Neonatal Outcomes According to Oral Glucose Challenge Test in Korean Pregnant Women / 대한주산의학회잡지

PURPOSE: The purpose of the study was to compare obstetric and perinatal outcomes according to glucose challenge test (GCT) in a single institution. METHODS: One thousand six women, who were underwent antepartum gestational diabetes mellitus (GDM) screening by a GCT in mid-pregnancy and delivered at National Health Service between January 1, 2007 and July 31, 2012, were included in the study. The medical records of patients were analyzed retrospectively. The Subjects were categorized into three groups according to the results of 50 g oral GTC and 100 g oral GTC; normal glucose tolerance (NGT, n=826), less than 140 mg/dL; gestational impaired glucose tolerance (GIGT, n=128), more than 140 mg/dL but non-GDM ; gestational diabetes mellitus (GDM, n=52). Pre-existed maternal DM or hypertension and twin pregnancy were excluded. Obstetric and perinatal outcomes were compared among the three groups. RESULTS: Maternal age, parity, and pre-pregnancy body mass index were higher in the GDM. The preterm delivery and gestational hypertension increased across the groups from NGT to GIGT to GDM (13.9% vs. 18.8% vs. 25.0%, P<0.01, and 1.9% vs.5.5% vs. 13.5%, P<0.01, respectively). Large for gestational age (LGA) and Neonatal Intensive Care Unit admission rate were higher in order in NGT, GIGT, and GDM (6.2% vs. 15.6% vs. 15.4%, P<0.01, and 12.3% vs. 24.2% vs. 38.5%, P<0.01), but other complications requiring intensive care were not different among the groups, including meconium aspiration syndrome and birth asphyxia. CONCLUSION: GDM was a risk factor of cesarean section, preterm delivery, and gestational hypertension. In addition, GIGT was positively correlated with gestational hypertension, preterm labor, cesarean section rate, and LGA. This study suggests that there is a need to develop a guideline for Korean pregnant women who were diagnosed with GIGT.