Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient’s karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%).Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

The Korean Bronchoesophagological Society appointed a task force to develop a clinical practice guideline for tracheostomy. The task force conducted a systematic search of the Embase, Medline, Cochrane Library, and KoreaMed databases to identify relevant articles, using search terms selected according to key questions. Evidence-based recommendations for practice were ranked according to the American College of Physicians grading system. An external expert review and a Delphi questionnaire were conducted to reach a consensus regarding the recommendations. Accordingly, the committee developed 18 evidence-based recommendations, which are grouped into seven categories. These recommendations are intended to assist clinicians in performing tracheostomy and in the management of tracheostomized patients.

OBJECTIVE: To evaluate correlations between serum anti-Mullerian hormone (AMH) levels, phenotypes of polycystic ovary syndrome (PCOS), obesity, and metabolic parameters in patients with PCOS. METHODS: A total of 175 patients with PCOS were diagnosed according to the Rotterdam Consensus were included. Exclusion criteria were age over 40, FSH>25 mIU/mL, and 17a-OHP>1.5 ng/mL. The Phenotypes of PCOS were divided into a severe form (oligo-anovulation, ANOV/hyperandrogenism/polycystic ovary morphology [PCOM]; n=59) and a mild form without HA (ANOV/PCOM, n=105). The serum AMH levels were classified into 3 groups (<5 vs. 5-10 vs. >10 ng/mL). Obesity was defined as body mass index (BMI) > or =25 kg/m2 (n=34). RESULTS: The mean age was 25.9+/-5.7 year and mean AMH level was 10.1+/-5.4 ng/mL. The BMI (kg/m2) was higher in group 1 (24.2+/-6.3) than in group 2 (21.9+/-4.3, p=0.046) or group 3 (21.6+/-3.3, p=0.019). There was no difference among the three groups in age, menstrual interval, antral follicle counts, androgens, or other metabolic parameters. The obesity group showed significantly lower AMH (7.7+/-3.9 ng/mL vs. 10.7+/-5.6 ng/mL), p=0.004) and low-density lipoprotein levels (93.1+/-21.2 mg/dL vs. 107.5+/-39.3 mg/dL, p=0.031), and showed higher total T (0.74+/-0.59 ng/mL vs. 0.47+/-0.36 ng/mL, p=0.001), free T (2.01+/-1.9 vs. 1.04+/-0.8 pg/mL, p=0.0001), and free androgen index (6.2+/-7.9 vs. 3.5+/-3.0, p=0.003). After controlling for age factors and BMI, the serum AMH levles did not show any significant correlations with other hormonal or metabolic parmeters. CONCLUSION: For PCOS patients under the age 40, serum AMH is not negatively correlated with age. High serum AMH levels can not predict the phenotype of PCOS and metabolic disturbances in PCOS patients in the non-obese group. Further study might be needed to define the relation more clearly.
Age Factors ; Androgens ; Anti-Mullerian Hormone ; Body Mass Index ; Carbamates ; Consensus ; Female ; Humans ; Hyperandrogenism ; Lipoproteins ; Obesity ; Organometallic Compounds ; Ovary ; Phenotype ; Polycystic Ovary Syndrome

OBJECTIVE: To evaluate the efficacy of earlier oocyte retrieval in IVF patients with a premature LH surge on hCG day. METHODS: One hundred forty IVF patients (164 cycles) with premature LH surge on hCG day were included, retrospectively. We divided them into 2 study groups: LH surge with timed ovum pick-up (OPU) 36 hours after hCG injection (group B, 129 premature cycles), and LH surge with earlier OPU within 36 hours after hCG injection (group C, 35 cycles). Control groups were tubal factor infertility without premature LH surge (group A, 143 cycles). RESULTS: The mean age (year) was statistically higher in group C than in groups A or B (38.2+/-5.4 vs. 36.2+/-4.2 vs. 36.8+/-4.9, respectively; p=0.012). The serum LH levels (mIU/mL) on hCG day were significantly higher in group B and C than in group A (22.7+/-14.9 vs. 30.3+/-15.9 vs. 3.2+/-2.9, respectively; p>0.001). Among groups A, B, and C, 4.9%, 31.7%, and 51.4% of the cycles, respectively, had no oocytes, and the overall rates of cycle cancellation (OPU cancellation, no oocyte, or no embryos transferrable) were 15.4%, 65.9%, and 74.3%, respectively. The fertilization rate (%) was significantly higher in group B than in group C (73.2+/-38.9 vs. 47.8+/-42.9, p=0.024). The clinical pregnancy rate was significantly higher in group C than in groups A and B (44.4% vs. 27.3% vs. 9.1%, respectively, p=0.021). However, the miscarriage rate was also higher in group C than in group B (22% vs. 0%, respectively, p=0.026). CONCLUSION: Earlier OPU may not be effective in reducing the risk of cycle cancellation in patients with premature LH surge on hCG day. A larger scale study will be required to reveal the effectiveness of earlier ovum retrieval with premature LH surge.
Abortion, Spontaneous ; Embryonic Structures ; Female ; Fertilization ; Fertilization in Vitro ; Humans ; Infertility ; Lutein ; Luteinizing Hormone ; Oocyte Retrieval ; Oocytes ; Ovum ; Pregnancy ; Pregnancy Rate ; Retrospective Studies

OBJECTIVE: We compared the assisted reproductive technology (ART) outcomes among infertile women with polycystic ovary syndrome (PCOS) treated with IVM, conventional IVF, GnRH agonist, and GnRH antagonist cycles. METHODS: The prospective study included a total of 67 cycles in 61 infertile women with PCOS. The women with PCOS were randomized into three IVF protocols: IVM/IVF with FSH and hCG priming with immature oocyte retrieval 38 hours later (group A, 14 cycles), GnRH agonist long protocol (group B, 14 cycles), and GnRH antagonist multi-dose flexible protocol (group C, 39 cycles). IVF outcomes, such as clinical pregnancy rate (CPR), implantation rate (IR), miscarriage rate (MR), and live birth rate (LBR), were compared among the three groups. RESULTS: Age, BMI, and basal FSH and LH levels did not differ among the three groups. The number of retrieved oocytes and 2 pronucleus embryos was significantly lower in group A compared with groups B and C. The CPR, IR, MR, and LBR per embryo transfer showed no differences among the three groups. There was no incidence of ovarian hyperstimulation syndrome in group A. CONCLUSION: The IR, MR, and LBR in the IVM cycles were comparable to those of the GnRH agonist and GnRH antagonist cycles. The IVM protocol, FSH and hCG priming with oocyte retrieval 38 hours later, is an effective ART option that is comparable with conventional IVF for infertile women with PCOS.
Abortion, Spontaneous ; Cardiopulmonary Resuscitation ; Embryo Transfer ; Embryonic Structures ; Female ; Gonadotropin-Releasing Hormone ; Humans ; Incidence ; Live Birth ; Oocyte Retrieval ; Oocytes ; Ovarian Hyperstimulation Syndrome ; Ovary ; Polycystic Ovary Syndrome ; Pregnancy ; Pregnancy Rate ; Prospective Studies ; Reproductive Techniques, Assisted

OBJECTIVES: The object of this study was to indentify characteristics of cardiovascular disease in the employed population in comparson with the non-employed group. METHODS: The study subjects were patients aged 20~65 from 3 university based hospital emergency centers and a structured questionnaire were used for comparing the characteristics of cardiovascular disease according to employment status. Multivariate logistic regression was used to analyze the association between employment status and cardiovascular disease risk factors. RESULTS: Among the patients, 573 people were employed (482 males, 91 females) and 251 were non-employed (117 males, 134 females). Compared to the non-employed group, the employed group was distinctive in that it contained patients of younger age, had a male dominant gender distribution, and a higher proportion of smoking and drinking patients. The employed group was less likely to be previously-diagnosed with diabetes, hypertension, chronic renal failure, cardiovascular disease, or cerebrovascular disease. The employed group was generally more stressed out but there was no significant differences in sleeping time. Infarction was more frequent in the employed group, but hemorrhage was more frequent in the non-employed group. According to the multivariate logistic regression analysis results, the odds ratio of drinking and stress was 1.89(95% CI: 1.25~2.86) and 2.68(95% CI: 1.80~3.99) respectively. CONCLUSIONS: Infarction was more frequent in the employed group. Drinking and stress were also more frequent in the employed group. The results of this study don't necessarily mean that stress and drinking are more important than other risk factors but, it means stress and drinking control are more important in the employed group compared to the non-employed group.
Aged ; Cardiovascular Diseases ; Drinking ; Emergencies ; Employment ; Hemorrhage ; Humans ; Hypertension ; Infarction ; Kidney Failure, Chronic ; Logistic Models ; Male ; Odds Ratio ; Questionnaires ; Risk Factors ; Smoke ; Smoking

PURPOSE: B-cell lymphoma (bcl)-2 is an anti-apoptotic gene, and it is a poor prognostic factor in various malignant tumors. However, the prognostic significance of bcl-2 expression in breast cancer remains controversial. We investigated the prognostic significance of bcl-2 according to cancer molecular subtype. METHODS: We analyzed 411 patients with primary invasive breast cancer who underwent surgery at our institution between 1999 and 2001. The subtypes were classified as luminal (estrogen receptor [ER]+ and/or progesterone receptor [PR]+, irrespective of human epidermal factor receptor 2 [HER2]), triple-negative (ER-, PR-, and HER2-), or HER2 (ER- ,PR-, and HER2+). RESULTS: A total of 236 (57.4%) cases were positive for bcl-2, and bcl-2 expression was significantly associated with earlier stage, lower grade, expression of hormone receptor positivity, and HER2 negativity. No difference in disease-free survival (DFS) was observed based on bcl-2 expression. However, the prognostic significance of bcl-2 varied with subtype; bcl-2 was not a prognosticator in patients with the luminal and HER2 subtypes. However, patients with bcl-2(+) tumors of the triple-negative subtype showed significantly worse DFS than those with bcl-2(-) tumors (p=0.048). In a multivariate analysis, bcl-2 expression remained a significant predictor of recurrence in patients with the triple-negative subtype (hazard ratio, 3.26; 95% confidence interval, 1.40-7.59; p=0.006). CONCLUSION: The prognostic significance of bcl-2 varied with molecular subtype; bcl-2 expression was a poor prognosticator in patients with the triple-negative subtype, but not in those with the luminal and HER2 subtypes.
Humans ; Breast Neoplasms

OBJECTIVE: To compare the IVF outcomes of mild ovarian stimulation with conventional ovarian stimulation in poor responders. METHODS: From 2004 to 2009, 389 IVF cycles in 285 women showed poor responses (defined as either a basal FSH level > or =12 mIU/mL, or the number of retrieved oocytes < or =3, or serum E2 level on hCG day <500 pg/mL) were analyzed, retrospectively. In total, 119 cycles with mild ovarian stimulation (m-IVF) and 270 cycles with conventional ovarian stimulation (c-IVF) were included. Both groups were divided based on their age, into groups over and under 37 years old. RESULTS: The m-IVF group was lower than the c-IVF group in the duration of stimulation, total doses of gonadotropins used, serum E2 level on hCG day, the number of retrieved oocytes, and the number of mature oocytes. However, there was no significant difference in the number of good embryos, the number of transferred embryos, the cancellation rate, or the clinical pregnancy rate. In the m-IVF group over 37 years old, the clinical pregnancy rate and live birth rate were higher when compared with the c-IVF group, but this result was not statistically significant. CONCLUSION: In poor responder groups, mild ovarian stimulation is more cost effective and patient friendly than conventional IVF. Therefore, we suggest that mild ovarian stimulation could be considered for poor responders over 37 years old.
Embryonic Structures ; Female ; Fertilization in Vitro ; Gonadotropins ; Humans ; Live Birth ; Oocytes ; Ovulation Induction ; Pregnancy Rate ; Retrospective Studies

OBJECTIVE: The aim of this study was to investigate whether anti-Mullerian hormone (AMH) levels could be predict ovarian poor/hyper response and IVF cycle outcome. METHODS: Between May 2010 and January 2011, serum AMH levels were evaluated with retrospective analysis. Three hundred seventy infertile women undergoing 461 IVF cycles between the ages of 20 and 42 were studied. We defined the poor response as the number of oocytes retrieved was equal or less than 3, and the hyper response as more than 25 oocytes retrieved. Serum AMH was measured by commercial enzyme-linked immunoassay. RESULTS: The number of oocytes retrieved was more correlated with the serum AMH level (r=0.781, p<0.01) than serum FSH (r=-0.412, p<0.01). The cut-off value of serum AMH levels for poor response was 1.05 ng/mL (receiver operating characteristic [ROC] curves/area under the curve [AUC], ROC(AUC)=0.85, sensitivity 74%, specificity 87%). Hyper response cut-off value was 3.55 ng/mL (ROC(AUC)=0.91, sensitivity 94%, specificity 81%). When the study group was divided according to the serum AMH levels (low: <1.05 ng/mL, middle: 1.05 ng/mL - 3.55 ng/mL, high: >3.55 ng/mL), the groups showed no statistical differences in mature oocyte rates (71.6% vs. 76.5% vs. 74.8%) or fertilization rates (76.9% vs. 76.6% vs. 73.8%), but showed significant differences in clinical pregnancy rates (21.7% vs. 24.1% vs. 40.8%, p=0.017). CONCLUSION: The serum AMH level can be used to predict the number of oocytes retrieved in patients, distinguishing poor and high responders.
Anti-Mullerian Hormone ; Female ; Fertilization ; Fertilization in Vitro ; Humans ; Oocytes ; Pregnancy Rate ; Retrospective Studies ; Sensitivity and Specificity