• Title/Summary/Keyword: Down syndrome risk

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Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery

  • Jeong, Shin Ok;Han, You Jung;Lee, Si Won;Kwak, Dong Wook;Chung, Jin Hoon;Ahn, Hyun Kyong;Choi, June Seek;Han, Jung Yeol;Kim, Moon Young;Park, So Yeon;Ryu, Hyun Mee;Kim, Min Hyoung
    • Journal of Genetic Medicine
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    • v.12 no.2
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    • pp.92-95
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    • 2015
  • Purpose: Increased maternal age is a major risk factor for chromosomal abnormalities. The maternal age-specific risk of fetal trisomy was theoretically calculated. We investigated the actual frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women over the age of 34 at delivery. Materials and Methods: We retrospectively, over a four-year period, reviewed the medical records of women with singleton pregnancies that started their antenatal care before the 10th week of pregnancy. Pregnant women aged 34 to 45 years at the time of delivery were enrolled and divided into groups of one-year intervals. We investigated the frequency of Down syndrome and all trisomies as a function of the maternal age and compared with the theoretical maternal-age-specific risk. Results: Of the 5,858 pregnant women enrolled in the study, the rate of trisomy 21 was 0.29% (17 cases). The observed frequencies of trisomy 21 in women with maternal ages of 35 years and 40 years were 1:1,116 and 1:141, respectively. The rate of all trisomies was 0.39% (23 cases). The observed frequencies of all trisomies in women with maternal ages of 35 years and 40 years were 1:372 and 1:56, respectively. Conclusion: The frequencies of Down syndrome and all trisomies were proportional to the maternal age. However, the observed frequencies of Down syndrome and all trisomies between the 16 and 24 gestational weeks were lower than the theoretical rates.

Screening for down syndrome using trophoblast retrieval and isolation of the cervix: preliminary study

  • Lee, Min Jin;Kim, Soo Hyun;Park, Hee Jin;Shim, Sung Han;Jang, Hee Yeon;Cha, Dong Hyun
    • Journal of Genetic Medicine
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    • v.17 no.2
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    • pp.68-72
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    • 2020
  • Purpose: Trisomy 21, the cause of Down syndrome (DS) with various medical problems, is the most common aneuploidy during the fetal period. For diagnosis, a non-invasive screening test using maternal blood, which cannot be confirmed and invasive confirmation test with a risk of miscarriage, may be performed. The trophoblast retrieval and isolation of the cervix (TRIC) have been proposed by some researchers as an alternative to overcome the limitations of current tests. We experimented using TRIC to identify the possibility of trisomy 21 for the first time in Asia. Materials and Methods: Three cases of DS were analyzed confirmed by invasive tests (chorionic villus sampling, amniocentesis). All samples of trophoblasts immediately were immersed in phosphate-buffered saline and processed with formalin for fixation. The trophoblasts were isolated using an anti-human leukocyte antigen-G antibody coupled to magnetic nanoparticles. β-human chorionic gonadotropin (hCG)-expressing cells were considered as trophoblast cells, and the detection rate calculated. DS was confirmed by fluorescence in situ hybridization (FISH). Results: The mean trophoblast detection rate using β-hCG was 78.1%, and the detection rate using FISH was 22.2%. In all cases, the trisomy of chromosome 21 was identified. Conclusion: Trophoblast can be obtained from the five weeks of gestation and has a high detection rate, so it is noted that it can replace the current prenatal genetic test. To realize the clinical application as a prenatal genetic test, we will need additional efforts to identify trisomy 21 as well as other chromosomal abnormalities in future large-scale studies.

Cauda Equina Syndrome and Common Peroneal Nerve Palsy after Spinal Anesthesia -A case report- (척추마취후 발생한 마미증후군과 총비골신경마비 -증례 보고-)

  • Yoon, Kyung-Bong;Lee, Young-Bok;Kim, Soon-Yul;Lee, Jung-Won
    • The Korean Journal of Pain
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    • v.8 no.2
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    • pp.390-393
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    • 1995
  • Although spinal anesthesia has long been considered a safe technique, it is not without risk or side effect. Cauda equina syndrome is a rare but serious complication of spinal anesthesia. We have experience a case of cauda equina syndrome after spinal anesthesia. A twenty year old healthy male patient complained of pain, numbness, tingling sensation and motor weakness on his right lower extremity 8 hours after subarachnoid blockade. On the following day, the patient was noted to have a right L1 to S2 radiculopathy. Magnetic Resonance Imaging results were unremarkable. The patient sprained his ankle while trying to move down from the bed, so short leg splint was applied. Then he had additional right common peroneal nerve injury from the splint. His neurologic symptoms improved gradually thereafter, and three months postoperatively his electromyogram revealed improving stage from right common peroneal nerve palsy.

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Acoustic Variation in infant crying (아기 울음의 음향학적 특성)

  • Choi, Yoon-Mi;Kim, Sun-Jun;Joo, Chan-Uhng;Kim, Hyun-Gi
    • Proceedings of the KSPS conference
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    • 2007.05a
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    • pp.146-148
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    • 2007
  • Studies of cry characteristics in the newborn infant were aimed to determine if cry analysis could be succesful in the early detection of the infant at risk for developmental difficulties. Crying presupposes functioning of the respiratory, laryngeal and supralaryngeal muscles. The nervous system controls the capacity, stability, and co-ordination of the movements in these muscles. Hence, the cry provides information about how the Nervous System is functioning. 3 patients(down syndrome, cornelia de lange syndrome, Patent ductus arteriosus) were assessed through a Computerized Speech Lab (CSL). Tests had been chosen to assess Fundamental frequency(mean, maximum, minimum values), Melody contour, NHR, Energy. We compared the data from patients and healthy volunteer. Variations in cry characteristics were documented in a number of medical abnormalities.

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A Study for Clinical Efficacy of GnRH Antagonist (Cetrorelix) Minimal Stimulation Protocol in Assisted Reproductive Techniques for Polycystic Ovaian Syndrome (다낭성 난소증후군의 과배란유도시 GnRH Antagonist (Cetrorelix)를 병합한 Minimal Stimulation Protocol의 임상적 유용성에 관한 연구)

  • Park, Sung-Dae;Lee, Sang-Hoon
    • Clinical and Experimental Reproductive Medicine
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    • v.29 no.4
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    • pp.251-258
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    • 2002
  • Objective : The aim of this study was to evaluate the outcomes of the GnRH antagonist (Cetrotide) minimal stimulation protocol comparing with GnRH agonist combined long step down stimulation protocol in PCOS patients. Materials and Method: From Apr 2001 to May 2002, 22 patients (22 cycles) were performed in controlled ovarian hyperstimulation using by GnRH antagonist and GnRH agonist for PCOS patients. GnRH antagonist (Cetrotide) combined minimal stimulation protocol was administered in 10 patients (10 cycles, Study Group) and GnRH agonist long step down stimulation protocol was administered in 12 patients (12 cycles, Control Group). We compared the pregnancy rate/cycle, total FSH (A)/cycle, Retrieved oocyte/cycle, the incidence of ovarian hyperstimulation syndrome, multiple pregnancy rate between the two groups. Student-t test were used to determine statistical significance. Statistical significance was defined as p<0.05. Results: Group of GnRH antagonist (Cetrorelix) minimal stimulation protocol produced fewer oocytes (6.4 versus 16.3 oocytes/cycle) using a lower dose of FSH (22.2 versus 36.1 Ample/cycle) and none developed OHSS and multiple pregnancy. Although the trends were in favour of the GnRH antagonist (Cetrorelix) protocol, the differences did not reach statistical significance. This was probably due to small sample size. Conclusion: The use of GnRH antagonist reduce the risk of ovarian hyperstimulation and multiple pregnancy. We suggest that GnRH antagonist might be alternative controlled ovarian hyperstimulation method, especially in PCOS patients who will be ovarian high response.

Evaluating the results of the Momguard noninvasive prenatal test

  • Hu, Hae-Jin;Kwon, Young-Jun;Oh, Mijin;Kim, Jihun;Cho, Dae-Yeon;Seo, Dong-Hee
    • Journal of Genetic Medicine
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    • v.12 no.2
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    • pp.96-99
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    • 2015
  • Purpose: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. Materials and Methods: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. Results: Among the 38 cases with 'screen positive' results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. Conclusion: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples.

Ileal Perforation with Norovirus Gastroenteritis in a 3-Month-Old Infant

  • Wi, Seol Woo;Lee, Su Jin;Kang, Eun Kyeong;Cho, Sung Min
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.20 no.2
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    • pp.130-133
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    • 2017
  • Noroviruses have been recognized as the leading cause of epidemic and sporadic gastroenteritis since the advent of molecular diagnostic technique. They have been documented in 5-31% of pediatric patients hospitalized with gastroenteritis. Although norovirus gastroenteritis is typically mild and self-limited, it causes severe, but sometimes fatal, conditions in the vulnerable population such as immunocompromised patients, young children, and the elderly. Bowel perforation due to norovirus infection is rare. We report a case of small bowel perforation with norovirus gastroenteritis in the infant with Down syndrome during the hospitalization with pneumonia. Severe dehydration may cause bowel ischemia and could have triggered bowel perforation in this case. Physicians should be alert to the potential surgical complications followed by severe acute diarrhea, especially in high risk groups.

Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities

  • Hong, Seong-Yeon
    • Journal of Genetic Medicine
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    • v.11 no.2
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    • pp.49-55
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    • 2014
  • Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.

The Effect of Chronic Alcohol Administration to Alteration of Liver, Kidney and Stomach in Mouse (장기 알콜투여가 생쥐의 간 및 신장, 위장조직 손상에 미치는 영향)

  • Kim, Jin-Taek;Kim, Dong-Hoan;Ahn, Sang-Hyun
    • The Journal of Dong Guk Oriental Medicine
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    • v.3
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    • pp.163-169
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    • 1994
  • Alcohol is a major risk factor for several diseases and excessive, long-term alcohol consumption are caues physical alteration-fatty liver, hepatitis, cirrhosis, breaking down, Wernicke-karsakoff's syndrome, weight loss, and poor immunity-in virtually all organ and tissue. This study was observed that liver, kidney, and stomach were altered in mouse by the effect of chronic alcohol administration. The mouse were sacrificed to obtain the tissue after mouse were orally injected with 25 % ethanol $18m{\ell}/kg/day$ for 120days. The tissue were stained by hematoxylin and eosin and then observed by light microscope. The results of this study were as follows : 1. The congestion was appeared in liver after 120days alcohol admistration. 2. The destruction of glomerulus were increased and the parietal cell of Bowman's capsule were swelled such as cuboidal cell after 120days alcohol administration. The congestion was appeared in alcohol administrated group. 3. The mucosa and gastric pit were destructed and the ulceration was appeared in stomach after 120days administration. The parietal cells and chief cells were damaged. Above results were shown that the tissue were damaged by chronic alcohol administration.

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Radiofrequency in arthroscopic shoulder surgery: a systematic review

  • Neeraj Vij;Joseph N. Liu;Nirav Amin
    • Clinics in Shoulder and Elbow
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    • v.26 no.4
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    • pp.423-437
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    • 2023
  • Background: Radiofrequency has seen an increase in use in orthopedics including cartilage lesion debridement in the hip and knee as well as many applications in arthroscopic shoulder surgery. The purpose of this systematic review is to evaluate the safety and usage of radiofrequency in the shoulder. Methods: This systematic review was registered with PROSPERO (international registry) and followed the preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) guidelines. Embase and PubMed were searched using: "shoulder," "rotator cuff," "biceps," "acromion" AND "monopolar," "bipolar," "ablation," "coblation," and "radiofrequency ablation." The title and abstract review were performed independently. Any discrepancies were addressed through open discussion. Results: A total of 63 studies were included. Radiofrequency is currently utilized in impingement syndrome, fracture fixation, instability, nerve injury, adhesive capsulitis, postoperative stiffness, and rotator cuff disease. Adverse events, namely superficial burns, are limited to case reports and case series, with higher-level evidence demonstrating safe use when used below the temperature threshold. Bipolar radiofrequency may decrease operative time and decrease the cost per case. Conclusions: Shoulder radiofrequency has a wide scope of application in various shoulder pathologies. Shoulder radiofrequency is safe; however, requires practitioners to be cognizant of the potential for thermal burn injuries. Bipolar radiofrequency may represent a more efficacious and economic treatment modality. Safety precautions have been executed by institutions to cut down patient complications from shoulder radiofrequency. Future research is required to determine what measures can be taken to further minimize the risk of thermal burns.