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Purpose@#The aim of this study was to show the association between the childbirth experience and life satisfaction among women with disabilities and estimate the moderating effect of family strengths and social support. @*Methods@#The target sample included disabled married women aged 20-49 years. We used the Disability and Life Dynamics Panel 2018. The total number of participants was 220. Three groups were defined based on the childbirth experience: women who had never given birth (13.6%), those who gave birth before the onset of disability (73.2%), and those who gave birth after the onset of disability (13.2%). We identified differences in general characteristics, family strengths, social support, and life satisfaction across the 3 groups and examined the moderating effect of family strengths and social support for the childbirth experience and life satisfaction. @*Results@#Women who gave birth after the onset of disability were in better health, exhibiting longer disability retention periods. The multiple regression analysis revealed that among women who gave birth after the onset of disability, life satisfaction was significantly higher than that of women without the childbirth experience because of the moderating effect of family strengths. However, social support had no significant effect on the childbirth experience and life satisfaction. @*Conclusion@#We empirically analyzed the status of childbirth before and after the onset of disability using representative survey data. The findings indicate a positive moderating effect of family strengths on the level of life satisfaction among women with disabilities.
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Purpose@#This study was performed to investigate the effect of the interval between the start of gonadotropin-releasing hormone agonist (GnRHa) and the start of chemotherapy on ovarian protection in patients with breast cancer. @*Methods@#This was a prospective observational cohort study that included 136 patients with breast cancer below 40 years who received GnRHa during chemotherapy for fertility preservation. Plasma anti-Müllerian hormone (AMH) levels were measured before chemotherapy (baseline) and after chemotherapy. Subjects were divided into 3 groups according to the interval between the start of GnRHa and the start of chemotherapy for analysis: 1–6 days, 7–13 days, and ≥ 14 days. The ratio of the post-chemotherapy AMH value to the baseline AMH (pcAMH) at each time point were compared among the 3 groups.Ranked analysis of covariance was used for statistical analysis, adjusted for age, body mass index (BMI), and the existence of polycystic ovaries (PCOs). In addition, recovery of ovarian function (AMH ≥ 1 ng/mL) at 12 months was evaluated. @*Results@#The median age of the patients was 32 years. There was no difference in the baseline AMH levels among the 3 groups (mean ± standard error: 5.0 ± 0.4 ng/mL [1–6 days], 5.3 ± 0.7 ng/mL [7–13 days], and 8.1 ± 1.3 ng/mL [≥ 14 days]; p = 0.250). The pcAMH at 3, 6, 12, 24, and 36 months were not significantly different among the 3 groups (p-values were 0.332, 0.732, 0.830, 0.148, and 0.393, respectively). In multivariate analysis, young age (p = 0.024), low BMI (p = 0.013), and the existence of PCO (p = 0.015) were predictors for AMH ≥ 1 ng/mL at 12 months. @*Conclusion@#There was no difference in the ovarian protective effect according to the difference in the timing of administration of GnRHa.
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With highly active antiretroviral therapy, human immunodeficiency virus (HIV) infection is considered to be a manageable chronic disease. The improved prognosis increases the desire of individuals with HIV to have biological offspring. With the establishment of washing protocol, no HIV transmission has been reported among more than 11,000 assisted reproduction technology (ART) cycles. Although the Acquired Immunodeficiency Syndrome Prevention Act in Korea prevents the use of HIV-infected blood, organs, tissues and semen, we recently obtained the authentic approval from the Korea Centers for Disease Control and Prevention for the practice of ART in HIV-serodiscordant couples. We report a 32-year-old HIV-seronegative female with her husband who was HIV-1 seropositive. After semen washing was performed by means of a density gradient and the swim-up technique, HIV-1 ribonucleic acid was not detected in the semen. An aliquot of processed semen was cryopreserved before ART. None of 3 cycles of intrauterine insemination was successful. After the third frozen-thawed embryo transfer following two cycles of intracytoplasmic sperm injection, an intrauterine singleton pregnancy was identified. She gave birth to a normal healthy male baby at full term by Cesarean section. She and her baby were tested for HIV during pregnancy and after delivery and the results were negative. Semen washing may be a safe ART method for HIV-serodiscordant couples who desire to have a baby in Korea.
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PURPOSE: To elucidate the correlation between ovarian reserve and the incidence of ectopic pregnancy (EP) following in vitro fertilization and embryo transfer (IVF/ET) cycles. MATERIALS AND METHODS: In this observational study, 430 fresh IVF/ET cycles were examined from patient data of two university hospital infertility clinics. All included patients were positive for β-human chorionic gonadotropin (hCG) at 2 weeks after oocyte retrieval via controlled ovarian stimulation. For each cycle, information on age, duration of infertility, basal follicle stimulating hormone (FSH), anti-Müllerian hormone (AMH), days of ovarian stimulation, numbers of retrieved oocytes and transferred embryos, and pregnancy outcomes was collected. Patients with AMH lower than 1.0 ng/dL or basal FSH higher than 10 mIU/mL were classified into the decreased ovarian reserve (DOR) group, and the remaining patients were classified into the normal ovarian reserve (NOR) group. RESULTS: In total, 355 cycles showed NOR, and 75 cycles DOR. There were no significant differences between the DOR and NOR groups regarding intrauterine (74.7% vs. 83.4%, respectively) or chemical (14.7% vs. 14.1%, respectively) pregnancies. The DOR group had a higher EP than that of NOR group [10.7% (8/75) vs. 2.5% (9/355), p=0.004]. In both univariate [odds ratio (OR) 5.6, 95% confidence interval (CI) 1.4–9.6, p=0.011] and multivariate (adjusted OR 5.1, 95 % CI 1.1–18.7, p=0.012) analysis, DOR was associated with a higher risk of EP. CONCLUSION: DOR may be associated with a higher risk of EP in IVF/ET cycles with controlled ovarian stimulation. More careful monitoring may be necessary for pregnant women with DOR.
Subject(s)
Female , Humans , Pregnancy , Chorionic Gonadotropin , Embryo Transfer , Embryonic Structures , Fertilization in Vitro , Follicle Stimulating Hormone , In Vitro Techniques , Incidence , Infertility , Observational Study , Oocyte Retrieval , Oocytes , Ovarian Reserve , Ovulation Induction , Pregnancy Outcome , Pregnancy, Ectopic , Pregnant WomenABSTRACT
Subject(s)
Female , Humans , Amenorrhea , Breast Neoplasms , Breast , Cohort Studies , Cyclophosphamide , Doxorubicin , Drug Therapy , Gonads , Korea , Menopause , Multivariate Analysis , Paclitaxel , Retrospective Studies , TamoxifenABSTRACT
PURPOSE: To investigate interobserver variation in target volume delineations for prostate cancer salvage radiotherapy using planning computed tomography (CT) versus combined planning CT and magnetic resonance imaging (MRI). MATERIALS AND METHODS: Ten radiation oncologists independently delineated a target volume on the planning CT scans of five cases with different pathological status after radical prostatectomy. Two weeks later, this was repeated with the addition of planning MRI. The volumes obtained with CT only and combined CT and MRI were compared, and the effect of the addition of planning MRI on interobserver variability was assessed. RESULTS: There were large differences in clinical target volume (CTV) delineated by each observer, regardless of the addition of planning MRI (9.44–139.27 cm³ in CT only and 7.77–122.83 cm³ in CT plus MRI) and no significant differences in the mean and standard deviation of CTV. However, there were decreases in mean volume and standard deviation as a result of using the planning MRI. CONCLUSION: This study showed substantial interobserver variation in target volume delineation for salvage radiotherapy. The combination of planning MRI with CT tended to decrease the target volume and the variation.
Subject(s)
Humans , Magnetic Resonance Imaging , Observer Variation , Prostate , Prostatectomy , Prostatic Neoplasms , Radiotherapy , Tomography, X-Ray ComputedABSTRACT
OBJECTIVE: To prospectively evaluate the efficacy and safety of a fixed early gonadotropin-releasing hormone (GnRH) antagonist protocol compared to a conventional midfollicular GnRH antagonist protocol and a long GnRH agonist protocol for in vitro fertilization (IVF) in patients with polycystic ovary syndrome (PCOS). METHODS: Randomized patients in all three groups (early antagonist, n=14; conventional antagonist, n=11; long agonist, n=11) received 21 days of oral contraceptive pill treatment prior to stimulation. The GnRH antagonist was initiated on the 1st day of stimulation in the early antagonist group and on the 6th day in the conventional antagonist group. The GnRH agonist was initiated on the 18th day of the preceding cycle. The primary endpoint was the number of oocytes retrieved, and the secondary endpoints included the rate of moderate-to-severe ovarian hyperstimulation syndrome (OHSS) and the clinical pregnancy rate. RESULTS: The median total number of oocytes was similar among the three groups (early, 16; conventional, 12; agonist, 19; p=0.111). The early GnRH antagonist protocol showed statistically non-significant associations with a higher clinical pregnancy rate (early, 50.0%; conventional, 11.1%; agonist, 22.2%; p=0.180) and lower incidence of moderate-to-severe OHSS (early, 7.7%; conventional, 18.2%; agonist, 27.3%; p=0.463), especially among subjects at high risk for OHSS (early, 12.5%; conventional, 40.0%; agonist, 50.0%; p=0.324). CONCLUSION: In PCOS patients undergoing IVF, early administration of a GnRH antagonist may possibly lead to benefits due to a reduced incidence of moderate-to-severe OHSS in high-risk subjects with a better clinical pregnancy rate per embryo transfer. Further studies with more subjects are required.
Subject(s)
Female , Humans , Pregnancy , Embryo Transfer , Fertilization in Vitro , Gonadotropin-Releasing Hormone , Incidence , Oocytes , Ovarian Hyperstimulation Syndrome , Polycystic Ovary Syndrome , Pregnancy Rate , Prospective StudiesABSTRACT
BACKGROUND: Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability. In some countries, including Korea, CMA testing is not yet implemented in clinical practice. We assessed the diagnostic utility of CMA testing in a large cohort of patients with developmental delay or intellectual disability in Korea. METHODS: We conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children's Hospital. Medical records were reviewed retrospectively. Pathogenicity of detected copy number variations (CNVs) was evaluated by referencing previous reports or parental testing using FISH or quantitative PCR. RESULTS: We found 110 patients to have pathogenic CNVs, which included 100 deletions and 31 duplications of 270 kb to 30 Mb. The diagnostic yield was 16.9%, demonstrating the diagnostic utility of CMA testing in clinic. Parental testing was performed in 66 patients, 86.4% of which carried de novo CNVs. In eight patients, pathogenic CNVs were inherited from healthy parents with a balanced translocation, and genetic counseling was provided to these families. We verified five rarely reported deletions on 2p21p16.3, 3p21.31, 10p11.22, 14q24.2, and 21q22.13. CONCLUSIONS: This study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability.
Subject(s)
Child , Humans , Autistic Disorder , Cohort Studies , Diagnosis , Diagnostic Tests, Routine , Genetic Counseling , Intellectual Disability , Korea , Medical Records , Microarray Analysis , Parents , Polymerase Chain Reaction , Retrospective Studies , Seoul , VirulenceABSTRACT
OBJECTIVE: The purpose of the current study was to compare the circulating levels of visfatin between women with polycystic ovary syndrome (PCOS) and those without PCOS and to assess the correlations between visfatin levels and various parameters. METHODS: This case-control study recruited 74 PCOS patients and 74 age- and body mass index (BMI)-matched controls. Serum visfatin levels were evaluated using the enzyme-linked immunosorbent assay. Women with PCOS were divided into 2 subgroups based on the presence of clinical or biochemical hyperandrogenism. The possible differences in serum visfatin levels between the hyperandrogenic and non-hyperandrogenic groups were also assessed. RESULTS: Visfatin levels in PCOS patients were similar to those in the controls. However, hyperandrogenic patients had significantly higher mean serum visfatin levels than those in non-hyperandrogenic patients (3.87 ng/mL; 95% confidence intervals [CIs], 3.09–4.85 in hyperandrogenic group vs. 2.69 ng/mL; 95% CIs, 2.06–3.52 in non-hyperandrogenic group; P=0.038). In women with PCOS, visfatin levels positively correlated with BMI (r=0.23; P=0.047) and the log free androgen index (FAI) (r=0.27; P=0.021) and negatively correlated with high-density lipoprotein (HDL) cholesterol levels (r=−0.37; P=0.025). Except for HDL cholesterol levels, these correlations were also observed in controls. CONCLUSION: Visfatin levels in PCOS patients were similar to those in the controls. However, hyperandrogenic patients showed significantly higher serum visfatin levels than those of non-hyperandrogenic patients, and visfatin had a positive linear correlation with FAI in both PCOS patients and controls.
Subject(s)
Female , Humans , Body Mass Index , Case-Control Studies , Cholesterol , Cholesterol, HDL , Enzyme-Linked Immunosorbent Assay , Hyperandrogenism , Lipoproteins , Nicotinamide Phosphoribosyltransferase , Polycystic Ovary SyndromeABSTRACT
OBJECTIVE: This study was designed to report the status of assisted reproductive technology (ART) therapy in South Korea between January 1, 2012 and December 31, 2012. METHODS: A localized online survey, originally developed by the International Committee Monitoring Assisted Reproductive Technologies, was first launched and provided to all available ART centers via email in 2015. Fresh embryo transfer (FET) cases were categorized as standard in vitro fertilization, intracytoplasmic sperm injection (ICSI), or half-ICSI. Thawed embryo transfer (TET) and other related procedures, including surgical sperm retrieval, were surveyed. RESULTS: Data from 33,956 ovum pick-up procedures were provided by 75 clinics in 2012. Of the 33,088 cycles in which ovums were retrieved, a complete transfer was performed in 90.5% (29,932 cycles). In addition, 10,079 FET cycles were confirmed to have resulted in clinical pregnancy, representing a pregnancy rate of 30.5% per ovum pick-up and 33.7% per ET. The most common number of embryos transferred in FET was 2 (41.6%), followed by 3 (34.0%), and non-elective single ETs (10.0%). Of the 10,404 TET cycles in which transfer was completed, 3,760 clinical pregnancies (36.1%) were confirmed by ultrasonography. CONCLUSION: The overall clinical pregnancy rate for FET and TET cycles in 2012 was higher than in 2011 (33.7% vs. 33.2% and 36.1% vs. 31.1%, respectively). The most common number of embryos transferred in FET cycles was 2, unlike in 2011.
Subject(s)
Pregnancy , Electronic Mail , Embryo Transfer , Embryonic Structures , Fertilization in Vitro , Korea , Ovum , Pregnancy Rate , Reproductive Techniques, Assisted , Sperm Injections, Intracytoplasmic , Sperm Retrieval , UltrasonographyABSTRACT
Human embryonic stem cell (hESC) culture system has been changing culture conditions from conventional to xeno-free for therapeutic cell applications, and N-glycolylneuraminic acid (Neu5Gc) could be a useful indicator of xenogeneic contaminations in hESCs because human cells can no longer produce it genetically. We set up the humanized culture condition using commercially available humanized materials and two different adaptation methods: sequential or direct. SNUhES4 and H1 hESC lines, previously established in conventional culture conditions, were maintained using the humanized culture condition and were examined for the presence of Neu5Gc. The hESCs showed the same morphology and character as those of the conventional culture condition. Moreover, they were negative for Neu5Gc within two passages without loss of pluripotency. This study suggested that this method can effectively cleanse previously established hESC lines, bringing them one step closer to being clinical-grade hESCs.
Subject(s)
Humans , Human Embryonic Stem Cells , MethodsABSTRACT
The preservation of female germ cells is important in the individuals with ovarian dysfunction and failure. For this purpose, ovarian follicle in vitro maturation (OFIVM) is an important technology for the retrieval of mature oocytes. In the in vivo follicular development, paracrine factors such as angiotensin (AT) and anti-Müllerian hormone (AMH) play important roles. We attempted to add estrogen during the OFIVM and to assess their expression on the follicular cells. The ovaries and pre-antral follicles were collected from 13-day C57BL/6 mice and cultured in vitro with estradiol (E₂) treatment for up to two weeks. In the whole ovaries, the expression of AT II was decreased and the expression of AMH was similar between control and E₂-treated ovaries after in vitro culture. Although there was no difference in the survival, ovulation, maturation and fertilization rates between control and E₂-treated groups, the expression of AT II in the follicular cells was down-regulated after E₂ treatment at mRNA level, and AMH showed similar expression. In conclusion, adding E₂ in OFIVM may regulate paracrine factors and their receptors that are related to follicular development. Further investigations are necessary to elucidate the roles of various sex hormones in the regulation of AT and AMH expression during the OFIVM.
Subject(s)
Animals , Female , Humans , Mice , Angiotensins , Estradiol , Estrogens , Fertilization , Germ Cells , Gonadal Steroid Hormones , In Vitro Techniques , Oocytes , Ovarian Follicle , Ovary , Ovulation , RNA, MessengerABSTRACT
OBJECTIVE: To compare the in vitro fertilization (IVF) outcomes between women with diminished ovarian reserve (DOR) after endometrioma operation and women with DOR without ovarian surgery. METHODS: This retrospective case-control study included 124 women aged under 40 and had DOR (serum anti-Müllerian hormone level <1.1 ng/mL or antral follicle count ≤6). They participated in fresh first and/or second IVF cycles between March in 2010 and December in 2015. Basal characteristics and IVF outcomes were compared between 47 cycles (32 women) with surgery-induced DOR and 119 cycles (92 women) with DOR without ovarian surgery. RESULTS: Basal characteristics were similar in both groups except that the median ages were lower in the surgery-induced DOR group compared to the DOR group without ovarian surgery. The data regarding the controlled ovarian stimulation and IVF cycle outcomes showed similar result in both groups. Also, clinical pregnancy and live birth rate were not different significantly between two groups. CONCLUSION: In the same condition of DOR, clinical pregnancy and live birth rate were not different significantly between two groups regarding etiology of DOR.
Subject(s)
Female , Humans , Pregnancy , Case-Control Studies , Endometriosis , Fertilization in Vitro , In Vitro Techniques , Infertility , Live Birth , Ovarian Reserve , Ovulation Induction , Retrospective StudiesABSTRACT
MicroRNAs (miRNAs) are small non-coding RNA molecules that participate in transcriptional and post-transcriptional regulation of gene expression. miRNAs have numerous roles in cellular function including embryonic development. Human embryonic stem cells (hESCs) are capable of self-renewal and can differentiate into most of cell types including cardiomyocytes (CMs). These characteristics of hESCs make them considered as an important model for studying human embryonic development and tissue specific differentiation. In this study, we tried to demonstrate the profile of miRNA expression in cardiac differentiation from hESCs. To induce differentiation, we differentiated hESCs into CMs by direct differentiation method and characterized differentiated cells. To analyze the expression of miRNAs, we distinguished (days 4, 8, 12, 16, 20, 24, 28) and isolated RNAs from each differentiation stage. miRNA specific RT-qPCR was performed and the expression profile of miR-1, -30d, -133a, -143, -145, -378a, -499a was evaluated. The expression of all miRs was up-regulated at day 8. miR-143 and -145 expression was also up-regulated at the later stage of differentiation. Only miR-378a expression returned to undifferentiated hESC levels at the other stages of differentiation. In conclusion, we elucidated the expression profile of miRNAs during differentiation into cardiomyocytes from hESCs. Our findings demonstrate the expression of miRNAs was stage-dependent during differentiation and suggest that the differentiation into CMs can be regulated by miRNAs through direct or indirect pathway.
Subject(s)
Female , Humans , Pregnancy , Embryonic Development , Gene Expression Regulation , Human Embryonic Stem Cells , Methods , MicroRNAs , Myocytes, Cardiac , RNA , RNA, Small UntranslatedABSTRACT
OBJECTIVES: The aim of this study was to compare the coping strategies among healthy controls, psychotic and neurotic patients and to evaluate the predictors of suicidal ideation. METHODS: The study population consisted of 115 outpatients in Ulsan University Hospital and 160 healthy controls. They filled out self-report questionnaires including demographics and validated psychiatric scales for depression, perceived stress, coping strategies, and suicide ideation. An analysis of the covariance was used to compare the clinical data among the groups. Stepwise multiple regression analysis was performed to estimate the effects of coping strategies and depression on the risk for suicidal ideation. RESULTS: Compared to the controls, the psychosis group used less active coping, and the neurosis group used more self-blame coping strategies. In healthy controls, suicidal ideation was predicted by depression, female gender, and using more self-blame coping. Although planning in psychosis was a protective factor, acceptance and self-blame in psychosis and behavioral disengagement in neurosis was a risk factor for suicidal ideation. CONCLUSION: Patients with psychotic and neurotic disorders use different coping strategies to deal with their distress and some of those are risk factors for suicidal ideation. Therefore, improving coping skills will be helpful for preventing suicide by alleviating the levels of stress and providing more effective emotion regulation.
Subject(s)
Female , Humans , Adaptation, Psychological , Demography , Depression , Neurotic Disorders , Outpatients , Protective Factors , Psychotic Disorders , Risk Factors , Suicidal Ideation , Suicide , Weights and MeasuresABSTRACT
Gallbladder (GB) cancer is asymptomatic in nature, making diagnosis and treatment difficult. The lymph node status is the strongest predictor of long-term survival for patients with GB cancer, and a complete removal of regional lymph nodes is important for patients undergoing radical resection of GB cancer. Unfortunately, lymph node metastases are common in the early stages of GB cancer. However, there have only been a few cases describing the symptoms or complications of metastatic lymph nodes in patients with GB cancer. Although hemoperitoneum caused by metastatic lymph nodes can occur with several cancers, it is very rare. To the best of our knowledge, hemoperitoneum from spontaneous ruptures of metastatic lymph nodes with GB cancer has not yet been reported. Herein, we describe such a case in a patient newly diagnosed with GB cancer.
Subject(s)
Humans , Diagnosis , Gallbladder Neoplasms , Gallbladder , Hemoperitoneum , Lymph Nodes , Neoplasm Metastasis , Rupture , Rupture, SpontaneousABSTRACT
This study evaluated the effects of combination treatment with alendronate (ALEN) and hormone therapy (HT) on bone mineral density (BMD) in postmenopausal Korean women. This multicenter, randomized, controlled clinical trial enrolled 344 postmenopausal women with low BMD. The women received HT (0.625 mg/day of conjugated equine estrogen and 2.5 mg/day of medroxyprogesterone acetate) alone or in combination with ALEN (10 mg/day) for 1 year. Changes in BMD and biochemical markers of bone turnover were evaluated. Data from 203 women (HT alone, 99; combination treatment, 104) who completed this study were analyzed. BMD at the lumbar spine and total hip increased significantly in both treatment groups after 1 year. There were no significant differences between HT alone vs. the combination of ALEN and HT in mean BMD increase at the lumbar spine (6.9% vs. 7.9%) and total hip (3.7% vs. 3.8%). Combined therapy suppressed serum osteocalcin and urinary deoxypyridinoline to a greater extent than HT alone. In conclusion, compared to HT alone, combination treatment with ALEN and HT for 1 year did not offer a benefit in BMD in postmenopausal Korean women with low BMD.
Subject(s)
Female , Humans , Alendronate , Biomarkers , Bone Density , Bone Remodeling , Estrogens , Hip , Medroxyprogesterone , Osteocalcin , Osteoporosis , SpineABSTRACT
Acute pancreatitis is occasionally caused by endoscopic treatments or radiologic interventions of the pancreatobiliary tract. However, no reports indicate that acute pancreatitis resulted from the insertion of a percutaneous transhepatic cholangiography (PTCS) catheter in the common bile duct (CBD). A 65-year-old woman visited our hospital with acute cholangitis due to about 3 cm-sized CBD stones. We planned to perform PTCS because of the large stones and altered anatomy (Billroth II). The patient was discharged after tract dilatation and insertion of a PTCS catheter in the distal CBD without manipulations of Ampulla of Vater (AOV). However, she visited the emergency room due to acute pancreatitis at three days after discharge. Computed tomography revealed upstream dilation of the main pancreatic duct following the compressed area of a large stone and catheter. Thus, we report a case that presented with acute pancreatitis induced by insertion of a PTCS catheter without manipulations of AOV.
Subject(s)
Aged , Female , Humans , Ampulla of Vater , Catheters , Cholangiography , Cholangitis , Common Bile Duct , Dilatation , Emergency Service, Hospital , Pancreatic Ducts , PancreatitisABSTRACT
The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL). We conducted a prospective case-control study in the Korean population. Subjects included 302 women with 2 or more consecutive, unexplained, spontaneous miscarriages before 20 weeks of gestation and 315 control women without a history of recurrent miscarriages. The genotyping for C677T and A1298C polymorphisms was performed using the TaqMan assay. Continuous variables were compared using Student's t-test, and χ² test was used to evaluate differences in the genotype distributions between the RPL and the controls. The genotype distribution of both polymorphisms in the RPL group did not differ from those of the controls. For further analysis, if RPL patients were divided according to the numbers of pregnancy losses (≥ 2 and ≥ 3) neither group was significantly different compared with controls. MTHFR gene C677T and A1298C polymorphisms are not associated with idiopathic RPL in Korean women, suggesting that those may not be susceptible allelic variants or be deficient to cause RPL.
Subject(s)
Female , Humans , Pregnancy , Abortion, Habitual , Abortion, Spontaneous , Case-Control Studies , Fibrinolysis , Genotype , Hyperhomocysteinemia , Methylenetetrahydrofolate Reductase (NADPH2) , Platelet Aggregation , Polymorphism, Single Nucleotide , Prospective StudiesABSTRACT
Moyamoya disease is characterized by progressive stenosis of the distal portion of the internal carotid arteries and fragile collateral vessels in the brain. The precise pathogenesis is still not known. Although extracranial vessel involvement is very rare, coronary arterial involvement has recently been reported. Here, we report a case of diffuse, multivessel coronary spasm leading to cardiac arrest and myocardial infarction in a 47-year-old man with moyamoya disease with no underlying emotional or physical stress.