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1.
Allergy, Asthma & Respiratory Disease ; : 100-104, 2023.
Article in English | WPRIM | ID: wpr-999242

ABSTRACT

Vocal cord dysfunction is one of the causes of dyspnea and is characterized by paradoxical closure of the vocal cords. The paradoxical movement of the vocal cords produces the limitation of airflow, resulting dyspnea, chest tightening, hoarseness, stridor, or wheezing. These findings are similar to those of other upper airway obstruction diseases or asthma; therefore, a high index of suspicion and clear differential diagnosis are required. Here, we discuss a case of vocal cord dysfunction aged 10 years that presented recurrent wheezing and dyspnea. The abnormal movement of the vocal cords was observed by fiberoptic laryngotracheobronchoscopy, which was correlated with stridor during respiration. Repeated episodic symptoms were controlled by the multidisciplinary team approach; however, surgical treatment was needed to stabilize the symptom.

2.
Laboratory Animal Research ; : 112-115, 2021.
Article in English | WPRIM | ID: wpr-902644

ABSTRACT

Background@#Nonhuman primates (NHPs) are superior model for ocular research due to its morphological and physiological similarities with humans. Thus, the effect of four different anesthetic combinations [ketamine (10 mg/ kg), ketamine + xylazine (7 + 0.6 mg/kg), zoletil (4 mg/kg), and zoletil + xylazine (4 + 0.2 mg/kg)] on intraocular pressure (IOP) was determined in cynomolgus monkeys. @*Results@#The administration of ketamine + xylazine or zoletil + xylazine resulted in lower IOP compared to ketamine or zoletil alone. Moreover, the IOP in male monkeys was higher than in females. The difference between the right and left eye was not found. @*Conclusions@#Anesthetics affected the IOP, and gender differences should be considered when measuring the IOP of nonhuman primates (NHPs).

3.
Laboratory Animal Research ; : 112-115, 2021.
Article in English | WPRIM | ID: wpr-894940

ABSTRACT

Background@#Nonhuman primates (NHPs) are superior model for ocular research due to its morphological and physiological similarities with humans. Thus, the effect of four different anesthetic combinations [ketamine (10 mg/ kg), ketamine + xylazine (7 + 0.6 mg/kg), zoletil (4 mg/kg), and zoletil + xylazine (4 + 0.2 mg/kg)] on intraocular pressure (IOP) was determined in cynomolgus monkeys. @*Results@#The administration of ketamine + xylazine or zoletil + xylazine resulted in lower IOP compared to ketamine or zoletil alone. Moreover, the IOP in male monkeys was higher than in females. The difference between the right and left eye was not found. @*Conclusions@#Anesthetics affected the IOP, and gender differences should be considered when measuring the IOP of nonhuman primates (NHPs).

4.
Clinical and Experimental Otorhinolaryngology ; : 108-115, 2021.
Article in English | WPRIM | ID: wpr-874421

ABSTRACT

Objectives@#. In subset of patients, acinic cell carcinoma (AcCC) exhibits aggressive features such as recurrence, distant metastasis, and mortality. This study aimed to investigate clinicopathologic factors influencing patients’ prognosis and to identify adverse features predictive of an unfavorable prognosis. @*Methods@#. Between January 2000 and December 2016, 59 patients with AcCC were enrolled in this study. @*Results@#. The patients’ 5-year overall survival rate was 93.3%, and their 5-year recurrence-free survival rate was 80.5%. During the study period, recurrence occurred in 10 patients. The mean time to recurrence after surgery was 26 months (range, 5–60 months). During the study period, three patients died from the disease. Univariate analysis showed that sex, surgical extent, extranodal extension, T classification, and TNM stage were significantly associated with disease recurrence. Multivariate analysis showed that, among the clinicopathologic factors included in the analysis, only TNM stage displayed a statistically significant correlation with disease recurrence. @*Conclusion@#. Surgical treatment alone yielded good results for AcCC, and additional treatment did not affect the recurrence-free survival rate or the overall survival rate, even when the resection margin was less than 1 mm. Other pathologic factors did not show prognostic significance for disease recurrence or death.

5.
Journal of Korean Academy of Nursing ; : 313-332, 2020.
Article | WPRIM | ID: wpr-834511

ABSTRACT

Purpose@#This year 2020 marks the 50th anniversary of the founding of the Korean Society of Nursing Science (KSNS). This study wasaimed to explore development of caring and describe the 50 years of history of KSNS within the sociocultural context of Korea regardingacademic footsteps, meanings, and implications for the future. @*Methods@#This study used a historical research methodology using a literaturereview and bibliometric analysis. Relevant literature was reviewed and the published abstracts in the Journal of Korean Academy ofNursing (JKAN) were analyzed using VOSviewer. @*Results@#Birth control and family planning in the 1970s was the main research topic. In the1980s, the development of nursing concepts, theories, and philosophies was the mission of KSNS to extend the disciplinary boundary. In the1990s, the progress of KSNS to become one of the woman-dominant healthcare professionals was the mission in the given period. Expandingthe frontiers of KSNS to the extent of global standards was the undertaking of the nursing scholars in the 2000s. Lastly, in the 2010s,the quality and quantity improvement of KSNS and JKAN is expected to make our future even prosperous. The map visualization of the 50years of research accumulation showed the comparable opposition of quantitative vs. qualitative research methodologies, equation modeling,and instrument development. @*Conclusion@#These clusters of research demonstrates the efforts to make nursing evidence by Koreannursing scholars for the last five decades. The growth in the slope of KSNS and outcomes of JKAN are to carry on to an unimaginable extentin the future.

6.
Laboratory Animal Research ; : 20-29, 2018.
Article in English | WPRIM | ID: wpr-713483

ABSTRACT

C57BL/6N mice are inbred strains widely used in biomedical research. Hence, a large amount of basic data has been accumulated. However, in the field of histopathology, spontaneous data for relatively younger mice that are used more frequently are not yet abundant, in contrast to data for older mice and their neoplastic lesions. To acquire the essential background data required by various research and toxicological assessments, 120 mice of the C57BL/6N strain (10 and 13 weeks of age) were collected from two institutions (From Korea and Japan) and subjected to histopathological analyses of the major organs (liver, spleen, kidney, thymus, heart, testis, epididymis). The results showed significantly higher incidence of sperm granulomas in the epididymides (10-56%) of these mice, compared with that in other strains or species of lab animals. Upon closer inspection, oligospermia/clear cell hyperplasia, cellular debris, and tubular vacuolation were also observed in the epididymides with sperm granulomas. Moreover, diseased organs were significantly heavier than healthy ones. Immunohistochemical staining showed a significant increase in the chromatic figures of cysteine-dependent aspartate-directed proteases-3 (caspase-3) and cleaved-poly(ADP-ribose) polymerase (c-PARP), and damages to the tubule due to spontaneous apoptosis, which may have led to the sperms leaking out of the tubule, causing the granuloma. To conclude, spontaneous sperm granuloma can occur in 10- and 13-week-old C57BL/6N mice and may thus affect the results of various studies using these mice. Therefore, sperm granuloma in epididymis needs to be carefully considered as an important factor when design the study using C57BL/6N.


Subject(s)
Animals , Male , Mice , Apoptosis , Epididymis , Granuloma , Heart , Hyperplasia , Incidence , Kidney , Korea , Spermatozoa , Spleen , Testis , Thymus Gland
7.
Obstetrics & Gynecology Science ; : 69-73, 2017.
Article in English | WPRIM | ID: wpr-34444

ABSTRACT

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.


Subject(s)
Female , Humans , Gonadotropin-Releasing Hormone , Leiomyoma , Leuprolide , Magnetic Resonance Imaging , Progesterone , Receptors, Progesterone , Retrospective Studies , Ultrasonography
8.
Clinical and Experimental Vaccine Research ; : 156-159, 2017.
Article in English | WPRIM | ID: wpr-184069

ABSTRACT

Vaccination is the most efficient method for infectious disease prevention. Parenteral injections such as intramuscular, intradermal, and subcutaneous injections have several advantages in vaccine delivery, but there are many drawbacks. Thus, the development of a new vaccine delivery system has long been required. Recently, microneedles have been attracting attention as new vaccination tools. Microneedle is a highly effective transdermal vaccine delivery method due to its mechanism of action, painlessness, and ease of use. Here, we summarized the characteristics of microneedles and the possibilities as a new vaccine delivery route.


Subject(s)
Communicable Diseases , Injections, Subcutaneous , Methods , Vaccination , Vaccines
9.
Journal of Gynecologic Oncology ; : e1-2017.
Article in English | WPRIM | ID: wpr-13189

ABSTRACT

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.


Subject(s)
Female , Humans , Biopsy , Biopsy, Needle , Carcinoma, Endometrioid , Dilatation and Curettage , Dilatation , Endometrial Neoplasms , Fertility , Gynecology , Hyperplasia , Levonorgestrel , Medroxyprogesterone Acetate , Observational Study , Obstetrics , Progesterone , Prospective Studies
10.
The Ewha Medical Journal ; : 118-121, 2016.
Article in English | WPRIM | ID: wpr-84900

ABSTRACT

A 37-year-old male patient was admitted with generalized edema as the main symptom. A blood test confirmed hypoalbuminemia and hyperlipidemia, and a urine test confirmed severe albuminuria. A renal biopsy was conducted, which revealed a diagnosis of minimal change disease. Although the patient experienced complete remission of minimal change nephrotic syndrome after oral prednisolone and cyclophosphamide treatment, he is readmitted due to bilateral leg edema 5 years later since minimal change nephrotic syndrome was completely cured. The patient is diagnosed with IgA nephropathy. Although the exact mechanisms of IgA nephropathy in this patient remain unclear, this case represents an extremely rare development, and is separate from the remission of minimal change nephrotic syndrome.


Subject(s)
Adult , Humans , Male , Albuminuria , Biopsy , Cyclophosphamide , Diagnosis , Edema , Glomerulonephritis, IGA , Hematologic Tests , Hyperlipidemias , Hypoalbuminemia , Immunoglobulin A , Leg , Nephrosis, Lipoid , Nephrotic Syndrome , Prednisolone
11.
Soonchunhyang Medical Science ; : 136-140, 2016.
Article in English | WPRIM | ID: wpr-84359

ABSTRACT

A 55-year-old man who had been monitored for Liddle syndrome in the nephrology division for 15 years visited again Inje University Sanggye Paik Hospital for a newly developed electrolyte disorder. Because his blood pressure was normal and he showed hypomagnesemia and hypokalemia, a renal clearance test and renal biopsy were conducted for suspected Gitelman syndrome. The patient was diagnosed with Gitelman syndrome, which has been previously reported 12 cases in South Korea. The renal clearance test revealed a disorder of the Na-Cl cotransporter (NCCT) in the distal tubule, while the renal biopsy revealed partial expression of NCCT, typical of Gitelman syndrome. Currently, the patient is being monitored, and is receiving oral administration of calcium and magnesium.


Subject(s)
Humans , Middle Aged , Administration, Oral , Biopsy , Blood Pressure , Calcium , Clinical Study , Gitelman Syndrome , Hypokalemia , Korea , Liddle Syndrome , Magnesium , Nephrology , Solute Carrier Family 12, Member 3
12.
Journal of Gynecologic Oncology ; : 343-349, 2015.
Article in English | WPRIM | ID: wpr-123431

ABSTRACT

Borderline ovarian tumors (BOTs) represent about 15% to 20% of all ovarian malignancies and differ from invasive ovarian cancers (IOCs) by many characters. Historically, standard management of BOT is peritoneal washing cytology, hysterectomy, bilateral salpingo-oophorectomy, omentectomy, complete peritoneal resection of macroscopic lesions; in case of mucinous BOTs, appendectomy should be performed. Because BOTs are often diagnosed at earlier stage, in younger age women and have better prognosis, higher survival rate than IOCs, fertility-sparing surgery is one of the option to preserve childbearing capacity. The study of such conservative surgery is being released, and still controversial. After surgery, pregnancy and ovarian induction followed by in vitro fertilization are also significant issues. In surgery, laparoscopic technique can be used by a gynecologic oncology surgeon. So far postoperative chemotherapy, radiotherapy and hormone therapy are not recommended. We will discuss controversial issues of BOTs on this review and present the outline of the management of BOTs.


Subject(s)
Female , Humans , Biopsy , Chemotherapy, Adjuvant , Infertility, Female/prevention & control , Intraoperative Care/methods , Laparoscopy/methods , Laparotomy/methods , Neoplasm Recurrence, Local/therapy , Neoplasm Staging , Organ Sparing Treatments/methods , Ovarian Neoplasms/pathology , Ovary/pathology , Precancerous Conditions/pathology
13.
Korean Journal of Medicine ; : 327-330, 2015.
Article in English | WPRIM | ID: wpr-52496

ABSTRACT

Neurofibromatosis 1 (NF-1) shows an autosomal dominant pattern of inheritance with complete penetrance and variable expression. Vascular abnormalities are frequently associated with NF-1. Pheochromocytoma occurs in 0.1-5.7% of patients with NF-1. Spontaneous intracerebral hemorrhage in patients with NF-1-related pheochromocytoma is very rare. Herein, we report a case of subarachnoid hemorrhage caused by multiple ruptured cerebral aneurysms in a patient with concurrent NF-1 and pheochromocytoma. Coil embolization of the aneurysms and subsequent adrenalectomy for pheochromocytoma were successfully performed, and the patient remained normotensive thereafter. This case demonstrates the importance of a careful search for a remediable cause of episodic hypertension in patients with NF-1, who are predisposed to cerebral hemorrhage from fluctuating blood pressure.


Subject(s)
Humans , Adrenalectomy , Aneurysm , Blood Pressure , Cerebral Hemorrhage , Embolization, Therapeutic , Hypertension , Intracranial Aneurysm , Neurofibromatoses , Neurofibromatosis 1 , Penetrance , Pheochromocytoma , Subarachnoid Hemorrhage , Wills
14.
Journal of Korean Society of Osteoporosis ; : 55-59, 2015.
Article in Korean | WPRIM | ID: wpr-760833

ABSTRACT

Primary hyperparathyroidism is a disease that causes hypercalcemia and abnormal bone metabolism due to an increase in parathyroid hormones, and the occurrence rate of bone fracturing is higher in patients with primary hyperparathyroidism. Parathyroid hormones have recently frequently been used as an osteogenesis catalyst treatment for osteoporosis in the elderly. This research study examined the case study that was experienced on the diagnosis and treatment of primary hyperparathyroidism caused by adenoma and extreme hypercalcemia that was discovered in menopausal women with bone fractures and extreme osteoporosis.


Subject(s)
Aged , Female , Humans , Adenoma , Diagnosis , Fractures, Bone , Hypercalcemia , Hyperparathyroidism, Primary , Metabolism , Osteogenesis , Osteoporosis , Teriparatide
15.
Korean Journal of Otolaryngology - Head and Neck Surgery ; : 641-645, 2015.
Article in English | WPRIM | ID: wpr-645544

ABSTRACT

Cholesterol granuloma is a histopathological diagnosis with features of cholesterol clefts, foreign body giant cells, and macrophages filled with hemosiderin. It is commonly found in the mastoid or petrous apex, but the involvement of paranasal sinuses is very rare. Radiologically, cholesterol granuloma show typical findings of hyperintense signals on both T1- and T2-weighted images on magnetic resonance imaging (MRI). We report two cases of cholesterol granuloma in the sphenoid sinus, which were first misinterpreted as mucoceles due to unusual MRI images.


Subject(s)
Cholesterol , Diagnosis , Giant Cells, Foreign-Body , Granuloma , Hemosiderin , Macrophages , Magnetic Resonance Imaging , Mastoid , Mucocele , Paranasal Sinuses , Sphenoid Sinus
16.
Yonsei Medical Journal ; : 1258-1265, 2015.
Article in English | WPRIM | ID: wpr-185895

ABSTRACT

PURPOSE: Resistant hypertension (HTN) occurs in 15-20% of treated hypertensive patients, and 70-80% of resistant hypertensive patients have obstructive sleep apnea (OSA). The characteristics of resistant HTN that predispose patients to OSA have not been reported. Therefore, we aimed to determine the clinical, laboratory, and polysomnographic features of resistant HTN that are significantly associated with OSA. MATERIALS AND METHODS: Hypertensive patients (n=475) who underwent portable polysomnography were enrolled. The patients were categorized into controlled (n=410) and resistant HTN (n=65) groups. The risk factors for the occurrence of OSA in controlled and resistant hypertensive patients were compared, and independent risk factors that are associated with OSA were analyzed. RESULTS: Out of 475 patients, 359 (75.6%) were diagnosed with OSA. The prevalence of OSA in resistant HTN was 87.7%, which was significantly higher than that in controlled HTN (73.7%). Age, body mass index, neck circumference, waist circumference, and hip circumference were significantly higher in OSA. However, stepwise multivariate analyses revealed that resistant HTN was not an independent risk factor of OSA. CONCLUSION: The higher prevalence and severity of OSA in resistant HTN may be due to the association of risk factors that are common to both conditions.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Body Mass Index , Hypertension/complications , Polysomnography , Prevalence , Republic of Korea/epidemiology , Retrospective Studies , Risk Factors , Sleep Apnea, Obstructive/complications , Waist Circumference
17.
Journal of Korean Society of Spine Surgery ; : 57-62, 2014.
Article in Korean | WPRIM | ID: wpr-95522

ABSTRACT

STUDY DESIGN: Exercise therapy after lumbar disc herniation surgery which is presented through hospital website was studied. OBJECTIVES: To assess the efficacy of exercise therapy after lumbar disc herniation surgery; the methods of evaluation are identified through the participating hospital's web site and exercise therapy that is presented on reference is compared. SUMMARY OF LITERATURE REVIEW: Exercise therapy after lumbar disc herniation surgery is effective; however, patient training is needed to ensure compliance. MATERIALS AND METHODS: After searching on five different portals using the term 'spine surgery,' 230 websites were retrieved. The performance of lumbar disc herniation surgery and presentation of postoperative exercise therapy was discovered and the presentation of exercise therapy for surgery type and departments difference were investigated. Exercise therapy were classified according to purposes and method for reference and the number of each exercise therapy was investigated. Exercises which were divided by postoperative period were also investigated. RESULTS: In 230 websites were retrieved; there were a total of 103 hospitals performing lumbar disc herniation surgery: 23 websites (22%)proposed exercise therapy after surgery is 23(22%), and 2(9%) of websites proposed exercise therapy for the type of surgery. The number of exercise therapy proposed by the website was 15; of the exercises mentioned, deep abdominal muscle contractions was the most commonly mentioned, using the treadmill was least. There were 5 websites that proposed exercise therapy divided by postoperative period. CONCLUSIONS: Only 22% of hospitals with websites that performed lumbar disc herniation surgery proposed postoperative exercise therapy. Although th common trends seem biased, postoperative exercise therapy needs more attention and the construction of websites for patient access is necessary to provide better rehabilitation for patients.


Subject(s)
Humans , Abdominal Muscles , Bias , Compliance , Exercise , Exercise Therapy , Postoperative Period , Rehabilitation
18.
Obstetrics & Gynecology Science ; : 172-175, 2014.
Article in English | WPRIM | ID: wpr-97005

ABSTRACT

Endometriosis, defined as growth of endometrial stroma and glands outside the uterine cavity, is a chronic and recurrent disease that affects patients' quality of life. Ectopic endometrial tissue can proliferate at any location in the body, but the pelvic organs and peritoneum are the most frequent implantation sites. Among extrapelvic endometriosis, inguinal endometriosis is a very rare gynecologic condition usually associated with previous pelvic surgery. Endometriosis should be preoperatively distinguished from other inguinal masses using computed tomography, magnetic resonance imaging, or ultrasonography. Here, we report a case of right inguinal endometriosis in a patient with no previous history of gynecologic surgery; in addition, we have provided a brief review of relevant literature.


Subject(s)
Female , Humans , Endometriosis , Gynecologic Surgical Procedures , Magnetic Resonance Imaging , Peritoneum , Quality of Life , Round Ligament of Uterus , Ultrasonography
19.
Yonsei Medical Journal ; : 1310-1317, 2014.
Article in English | WPRIM | ID: wpr-210328

ABSTRACT

PURPOSE: Obstructive sleep apnea (OSA) is considered an independent risk factor for hypertension. However, it is still not clear which clinical factors are related with the presence of hypertension in OSA patients. We aimed to find different physical features and compare the sleep study results which are associated with the occurrence of hypertension in OSA patients. MATERIALS AND METHODS: Medical records were retrospectively reviewed for patients diagnosed with OSA at Severance Cardiovascular Hospital between 2010 and 2013. Males with moderate to severe OSA patients were enrolled in this study. Clinical and polysomnographic features were evaluated to assess clinical variables that are significantly associated with hypertension by statistical analysis. RESULTS: Among men with moderate to severe OSA, age was negatively correlated with hypertension (odds ratio=0.956), while neck circumference was positively correlated with the presence of hypertension (odds ratio=1.363). Among the polysomnographic results, the lowest O2 saturation during sleep was significantly associated with the presence of hypertension (odds ratio=0.900). CONCLUSION: Age and neck circumference should be considered as clinically significant features, and the lowest blood O2 saturation during sleep should be emphasized in predicting the coexistence or development of hypertension in OSA patients.


Subject(s)
Female , Humans , Male , Age Factors , Body Mass Index , Hypertension/complications , Neck/anatomy & histology , Odds Ratio , Oxygen/blood , Retrospective Studies , Risk Factors , Sex Factors , Sleep Apnea, Obstructive/complications , Waist Circumference
20.
Journal of Genetic Medicine ; : 16-21, 2014.
Article in English | WPRIM | ID: wpr-7133

ABSTRACT

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.


Subject(s)
Adult , Female , Humans , Pregnancy , Chorionic Villi Sampling , Cytogenetic Analysis , Fetus , Fluorescence , Genetic Counseling , In Situ Hybridization , Karyotype , Nuchal Translucency Measurement , Parents , Prenatal Diagnosis , Twins , X Chromosome , X Chromosome Inactivation , Y Chromosome
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