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1.
Journal of Korean Medical Science ; : e300-2023.
Article in English | WPRIM | ID: wpr-1001245

ABSTRACT

Background@#The purpose of this study was to evaluate the effect of vanishing twin (VT) on maternal serum marker concentrations and nuchal translucency (NT). @*Methods@#This is a secondary analysis of a multicenter prospective cohort study in 12 institutions. Serum concentrations of pregnancy-associated plasma protein-A in the first trimester and alpha-fetoprotein (AFP), total human chorionic gonadotrophin, unconjugated estriol, and inhibin A in the second trimester were measured, and NT was measured between 10 and 14 weeks of gestation. @*Results@#Among 6,793 pregnant women, 5,381 women were measured for serum markers in the first or second trimester, including 65 cases in the VT group and 5,316 cases in the normal singleton group. The cases in the VT group had a higher median multiple of the median value of AFP and inhibin A than the normal singleton group. The values of other serum markers and NT were not different between the two groups. After the permutation test with adjustment,AFP and inhibin A remained significant differences. The frequency of abnormally increased AFP was also higher in the VT group than in the normal singleton group. @*Conclusion@#VT can be considered as an adjustment factor for risk assessment in the secondtrimester serum screening test.

2.
Yonsei Medical Journal ; : 822-828, 2021.
Article in English | WPRIM | ID: wpr-904300

ABSTRACT

Purpose@#Funisitis, inflammation of the umbilical cord, is considered a strong risk factor for adverse neonatal outcomes; however, a clinical definition of funisitis has not been established. In this study, we aimed to determine the clinical significance of funisitis in twin neonates with spontaneous preterm birth. @*Materials and Methods@#The study included preterm twin neonates (<35 weeks) delivered after spontaneous preterm labor and/ or preterm premature rupture of amniotic membranes. The presence of funisitis was examined in the umbilical cord of each twin.We analyzed the risk of adverse neonatal outcomes according to the presence and absence of funisitis. Adverse neonatal outcomes were defined as the occurrence of neonatal mortality, significant morbidity, or both. @*Results@#Among 474 preterm neonates (237 twin pairs) included in this study, the frequency of funisitis was 6.5% (31 cases). Funisitis was significantly associated with neonatal mortality and adverse neonatal outcomes after adjustment for confounding variables [neonatal mortality, odds ratio (OR) 9.043, 95% confidence interval (CI) 2.620–31.204; adverse neonatal outcome, OR 2.445, 95% CI 1.017–5.875]. The concordance rate of funisitis between the twins was 10.7%, and in the absence of funisitis in one twin, the risk of neonatal mortality or adverse neonatal outcome was not influenced by the presence of funisitis in the other twin. @*Conclusion@#The presence of funisitis appears to be associated with an increased risk for adverse neonatal outcomes in twin neonates with spontaneous preterm birth.

3.
Yonsei Medical Journal ; : 822-828, 2021.
Article in English | WPRIM | ID: wpr-896596

ABSTRACT

Purpose@#Funisitis, inflammation of the umbilical cord, is considered a strong risk factor for adverse neonatal outcomes; however, a clinical definition of funisitis has not been established. In this study, we aimed to determine the clinical significance of funisitis in twin neonates with spontaneous preterm birth. @*Materials and Methods@#The study included preterm twin neonates (<35 weeks) delivered after spontaneous preterm labor and/ or preterm premature rupture of amniotic membranes. The presence of funisitis was examined in the umbilical cord of each twin.We analyzed the risk of adverse neonatal outcomes according to the presence and absence of funisitis. Adverse neonatal outcomes were defined as the occurrence of neonatal mortality, significant morbidity, or both. @*Results@#Among 474 preterm neonates (237 twin pairs) included in this study, the frequency of funisitis was 6.5% (31 cases). Funisitis was significantly associated with neonatal mortality and adverse neonatal outcomes after adjustment for confounding variables [neonatal mortality, odds ratio (OR) 9.043, 95% confidence interval (CI) 2.620–31.204; adverse neonatal outcome, OR 2.445, 95% CI 1.017–5.875]. The concordance rate of funisitis between the twins was 10.7%, and in the absence of funisitis in one twin, the risk of neonatal mortality or adverse neonatal outcome was not influenced by the presence of funisitis in the other twin. @*Conclusion@#The presence of funisitis appears to be associated with an increased risk for adverse neonatal outcomes in twin neonates with spontaneous preterm birth.

4.
Journal of Korean Medical Science ; : e26-2021.
Article in English | WPRIM | ID: wpr-874776

ABSTRACT

The Korean Society of Maternal Fetal Medicine proposed the first Korean guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice guideline (CPG) was developed for Korean women using an adaptation process based on good-quality practice guidelines, previously developed in other countries, on prenatal screening and invasive diagnostic testing for fetal chromosome abnormalities. We reviewed current guidelines and developed a Korean CPG on invasive diagnostic testing for fetal chromosome abnormalities according to the adaptation process. Recommendations for selected 11 key questions are: 1) Considering the increased risk of fetal loss in invasive prenatal diagnostic testing for fetal genetic disorders, it is not recommended for all pregnant women aged over 35 years. 2) Because early amniocentesis performed before 14 weeks of pregnancy increases the risk of fetal loss and malformation, chorionic villus sampling (CVS) is recommended for pregnant women who will undergo invasive prenatal diagnostic testing for fetal genetic disorders in the first trimester of pregnancy. However, CVS before 9 weeks of pregnancy also increases the risk of fetal loss and deformity. Thus, CVS is recommended after 9 weeks of pregnancy. 3) Amniocentesis is recommended to distinguish true fetal mosaicism from confined placental mosaicism. 4) Anti-immunoglobulin should be administered within 72 hours after the invasive diagnostic testing. 5) Since there is a high risk of vertical transmission, an invasive prenatal diagnostic testing is recommended according to the clinician's discretion with consideration of the condition of the pregnant woman. 6) The use of antibiotics is not recommended before or after an invasive diagnostic testing. 7) The chromosomal microarray test as an alternative to the conventional cytogenetic test is not recommended for all pregnant women who will undergo an invasive diagnostic testing. 8) Amniocentesis before 14 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 9) CVS before 9 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 10) Although the risk of fetal loss associated with invasive prenatal diagnostic testing (amniocentesis and CVS) may vary based on the proficiency of the operator, the risk of fetal loss due to invasive prenatal diagnostic testing is higher in twin pregnancies than in singleton pregnancies. 11) When a monochorionic twin is identified in early pregnancy and the growth and structure of both fetuses are consistent, an invasive prenatal diagnostic testing can be performed on one fetus alone. However, an invasive prenatal diagnostic testing is recommended for each fetus in cases of pregnancy conceived via in vitro fertilization, or in cases in which the growth of both fetuses differs, or in those in which at least one fetus has a structural abnormality. The guidelines were established and approved by the Korean Academy of Medical Sciences. This guideline is revised and presented every 5 years.

5.
Journal of Korean Medical Science ; : e27-2021.
Article in English | WPRIM | ID: wpr-874774

ABSTRACT

In 2019, the Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing. These guidelines were developed by adapting established clinical practice guidelines in other countries that were searched systematically, and the guidelines aim to assist in decision making of healthcare providers providing prenatal care and to be used as a source for education and communication with pregnant women in Korea. This article delineates clinical practice guidelines specifically for maternal serum screening for fetal aneuploidy and cell-free DNA (cfDNA) screening. A total of 19 key questions (12 for maternal serum and 7 for cfDNA screening) were defined. The main recommendations are: 1) Pregnant women should be informed of common fetal aneuploidy that can be detected, risks for chromosomal abnormality according to the maternal age, detection rate and false positive rate for common fetal aneuploidy with each screening test, limitations, as well as the benefits and risks of invasive diagnostic testing, 2) It is ideal to give counseling about prenatal aneuploidy screening and diagnostic testing at the first prenatal visit, and counseling is recommended to be given early in pregnancy, 3) All pregnant women should be informed about maternal serum screening regardless of their age, 4) cfDNA screening can be used for the screening of trisomy 21, 18, 13 and sex-chromosome aneuploidy. It is not recommended for the screening of microdeletion, 5) The optimal timing of cfDNA screening is 10 weeks of gestation and beyond, and 6) cfDNA screening is not recommended for women with multiple gestations. The guideline was reviewed and approved by the Korean Academy of Medical Sciences.

6.
Journal of Movement Disorders ; : 62-65, 2020.
Article | WPRIM | ID: wpr-836159

ABSTRACT

It is difficult to determine the pathoanatomical correlates of dystonia because of its complex pathophysiology, and most cases with secondary dystonia are associated with basal ganglia lesions. Moreover, it is a challenging issue that patients with abnormal postures accompanied by other neurological findings in the affected body part (e.g., sensory loss) can be diagnosed with true dystonia or pseudodystonia. Here, we report a case of abnormal postures with loss of proprioception in the left extremities after right dorsal pontine hemorrhage.

7.
Journal of Genetic Medicine ; : 16-20, 2020.
Article | WPRIM | ID: wpr-835779

ABSTRACT

Purpose@#Duodenal atresia (DA) and atrioventricular septal defect (AVSD) are well known ultrasonographic findings associated with Down syndrome. The risk of Down syndrome in fetuses with these anomalies has been reported as 30% to 40%. However, on the basis of our clinical experience, the risk of Down syndrome of DA may be lower in Korean population. To clarify this issue, we compared the risk of Down syndrome between cases with DA and AVSD. @*Materials and Methods@#The study population consisted of neonates who were confirmed as DA or AVSD by postnatal diagnosis. Postnatal diagnosis was made by surgery, postnatal echocardiography, or autopsy. Medical record was reviewed retrospectively. @*Results@#A total of 213 neonates with DA or AVSD were included: 67 cases with DA and 146 cases with AVSD. The risk of Down syndrome was 4.5% (3/67) in DA vs. 29.5% (43/146) in AVSD. When confining analysis to those whose karyotyping were not performed during antenatal period, the risk of Down syndrome were 7.9% (3/38) in DA and 35.4% (35/99) in AVSD. @*Conclusion@#The risk of Down syndrome in cases with DA was much lower in Korean population than previously reported risk in the literature. The significance of some antenatal sonographic markers for Down syndrome may be different according to ethnicity.

8.
Diabetes & Metabolism Journal ; : 726-736, 2020.
Article | WPRIM | ID: wpr-832383

ABSTRACT

Background@#The definition of the high-risk group for gestational diabetes mellitus (GDM) defined by the American College of Obstetricians and Gynecologists was changed from the criteria composed of five historic/demographic factors (old criteria) to the criteria consisting of 11 factors (new criteria) in 2017. To compare the predictive performances between these two sets of criteria. @*Methods@#This is a secondary analysis of a large prospective cohort study of non-diabetic Korean women with singleton pregnancies designed to examine the risk of GDM in women with nonalcoholic fatty liver disease. Maternal fasting blood was taken at 10 to 14 weeks of gestation and measured for glucose and lipid parameters. GDM was diagnosed by the two-step approach. @*Results@#Among 820 women, 42 (5.1%) were diagnosed with GDM. Using the old criteria, 29.8% (n=244) of women would have been identified as high risk versus 16.0% (n=131) using the new criteria. Of the 42 women who developed GDM, 45.2% (n=19) would have been mislabeled as not high risk by the old criteria versus 50.0% (n=21) using the new criteria (1-sensitivity, 45.2% vs. 50.0%, P>0.05). Among the 778 patients who did not develop GDM, 28.4% (n=221) would have been identified as high risk using the old criteria versus 14.1% (n=110) using the new criteria (1-specificity, 28.4% vs. 14.1%, P<0.001). @*Conclusion@#Compared with the old criteria, use of the new criteria would have decreased the number of patients identified as high risk and thus requiring early GDM screening by half (from 244 [29.8%] to 131 [16.0%]).

9.
Journal of Korean Medical Science ; : e198-2020.
Article | WPRIM | ID: wpr-831579

ABSTRACT

Background@#Nonalcoholic fatty liver disease (NAFLD) is now considered as a hepatic manifestation of metabolic syndrome and elevated alanine aminotransferase (ALT) is commonly related to NAFLD in the absence of viral hepatitis or alcohol abuse. Previous studies have indicated that elevated ALT is associated with diabetes or metabolic syndrome in adults, but the clinical significance of ALT or NAFLD in pregnancy has not been well determined. The objective of this study was to determine the association between elevated ALT in early pregnancy and the development of gestational diabetes or preeclampsia in late pregnancy. @*Methods@#In this retrospective cohort study, pregnant women who met the following inclusion criteria were included: 1) singleton pregnancy; 2) ALT levels were measured in antenatal outpatient clinic at 4–20 weeks of gestation; 3) patients were screened for gestational diabetes and delivered in Cheil General Hospital and Women's Healthcare Center. Cases with viral hepatitis or other liver diseases were excluded. The early ALT levels were divided into two groups (normal ALT [≤ 95th percentile] and elevated ALT [> 95th percentile]), and the frequency of gestational diabetes and preeclampsia was compared between the two groups of cases. Gestational diabetes was screened and diagnosed by two-step procedure (50 g oral glucose challenge test and 75 g glucose challenge test with World Health Organization [WHO] criteria). @*Results@#A total of 2,322 women met the inclusion criteria. Cases with elevated early ALT levels (> 95th percentile) had a higher risk of subsequent gestational diabetes and preeclampsia (gestational diabetes by WHO criteria, 2.1% in normal ALT vs. 6.5% in elevated ALT, P < 0.01; preeclampsia, 1.0% in normal ALT vs. 4.1% in elevated ALT, P < 0.05). This relationship between elevated ALT and increased risk of gestational diabetes/preeclampsia remained significant after adjustment for maternal age and pre-pregnancy body mass index. @*Conclusion@#Elevated unexplained ALT in early pregnancy is associated with the risk of subsequent development of gestational diabetes and preeclampsia in late pregnancy.

10.
Journal of Korean Medical Science ; : 73-2020.
Article in English | WPRIM | ID: wpr-810930

ABSTRACT

BACKGROUND: Twin-to-twin transfusion syndrome (TTTS) is a serious complication of monochorionic twin pregnancies. It results from disproportionate blood supply to each fetus caused by abnormal vascular anastomosis within the placenta. Amniotic fluid (AF) is an indicator reflecting the various conditions of the fetus, and an imbalance in AF volume is essential for the antenatal diagnosis of TTTS by ultrasound. In this study, two different mass spectrometry quantitative approaches were performed to identify differentially expressed proteins (DEPs) within matched pairs of AF samples.METHODS: We characterized the AF proteome in pooled AF samples collected from donor and recipient twin pairs (n = 5 each) with TTTS by a global proteomics profiling approach and then preformed the statistical analysis to determine the DEPs between the two groups. Next, we carried out a targeted proteomic approach (multiple reaction monitoring) with DEPs to achieve high-confident TTTS-associated AF proteins.RESULTS: A total of 103 AF proteins that were significantly altered in their abundances between donor and recipient fetuses. The majority of upregulated proteins identified in the recipient twins (including carbonic anhydrase 1, fibrinogen alpha chain, aminopeptidase N, alpha-fetoprotein, fibrinogen gamma chain, and basement membrane-specific heparan sulfate proteoglycan core protein) have been associated with cardiac or dermatologic disease, which is often seen in recipient twins as a result of volume overload. In contrast, proteins significantly upregulated in AF collected from donor twins (including IgGFc-binding protein, apolipoprotein C-I, complement C1q subcomponent subunit B, apolipoprotein C-III, apolipoprotein A-II, decorin, alpha-2-macroglobulin, apolipoprotein A-I, and fibronectin) were those previously shown to be associated with inflammation, ischemic cardiovascular complications or renal disease.CONCLUSION: In this study, we identified proteomic biomarkers in AF collected from donor and recipient twins in pregnancies complicated by TTTS that appear to reflect underlying functional and pathophysiological challenges faced by each of the fetuses.

11.
Korean Journal of Neuromuscular Disorders ; (2): 39-43, 2020.
Article in Korean | WPRIM | ID: wpr-902275

ABSTRACT

Idiopathic orbital myositis is considered as a subgroup of idiopathic orbital inflammatory disease. It is a non-infectious inflammatory disorder primarily affecting the extraocular muscles and causes various eye symptoms including pain, diplopia and limitation of extraocular movement. Cases of isolated ptosis by idiopathic orbital myositis have been very rarely described in the literature. We report a patient who developed unilateral painless ptosis caused by idiopathic orbital myositis. A 52-year-old man presented with drooping of the right eyelid for 3 days. There was no history of headache, double vision or any other complaints. Neurological examination revealed right ptosis without pupil and extraocular muscles involvement. Repetitive nerve stimulation test was normal. Ptosis did not improve after the neostigmine injection. Magnetic resonance imaging scan showed asymmetric enlargement of right superior rectus/levator palpebrae superioris muscle complex and medial rectus muscle. Ptosis resolved dramatically after oral corticosteroid therapy. Isolated unilateral ptosis can be caused by various etiologies. Idiopathic orbital myositis should be considered in the differential diagnosis of ptosis.

12.
Journal of Korean Medical Science ; : e73-2020.
Article in English | WPRIM | ID: wpr-899803

ABSTRACT

BACKGROUND@#Twin-to-twin transfusion syndrome (TTTS) is a serious complication of monochorionic twin pregnancies. It results from disproportionate blood supply to each fetus caused by abnormal vascular anastomosis within the placenta. Amniotic fluid (AF) is an indicator reflecting the various conditions of the fetus, and an imbalance in AF volume is essential for the antenatal diagnosis of TTTS by ultrasound. In this study, two different mass spectrometry quantitative approaches were performed to identify differentially expressed proteins (DEPs) within matched pairs of AF samples.@*METHODS@#We characterized the AF proteome in pooled AF samples collected from donor and recipient twin pairs (n = 5 each) with TTTS by a global proteomics profiling approach and then preformed the statistical analysis to determine the DEPs between the two groups. Next, we carried out a targeted proteomic approach (multiple reaction monitoring) with DEPs to achieve high-confident TTTS-associated AF proteins.@*RESULTS@#A total of 103 AF proteins that were significantly altered in their abundances between donor and recipient fetuses. The majority of upregulated proteins identified in the recipient twins (including carbonic anhydrase 1, fibrinogen alpha chain, aminopeptidase N, alpha-fetoprotein, fibrinogen gamma chain, and basement membrane-specific heparan sulfate proteoglycan core protein) have been associated with cardiac or dermatologic disease, which is often seen in recipient twins as a result of volume overload. In contrast, proteins significantly upregulated in AF collected from donor twins (including IgGFc-binding protein, apolipoprotein C-I, complement C1q subcomponent subunit B, apolipoprotein C-III, apolipoprotein A-II, decorin, alpha-2-macroglobulin, apolipoprotein A-I, and fibronectin) were those previously shown to be associated with inflammation, ischemic cardiovascular complications or renal disease.@*CONCLUSION@#In this study, we identified proteomic biomarkers in AF collected from donor and recipient twins in pregnancies complicated by TTTS that appear to reflect underlying functional and pathophysiological challenges faced by each of the fetuses.

13.
Korean Journal of Neuromuscular Disorders ; (2): 39-43, 2020.
Article in Korean | WPRIM | ID: wpr-894571

ABSTRACT

Idiopathic orbital myositis is considered as a subgroup of idiopathic orbital inflammatory disease. It is a non-infectious inflammatory disorder primarily affecting the extraocular muscles and causes various eye symptoms including pain, diplopia and limitation of extraocular movement. Cases of isolated ptosis by idiopathic orbital myositis have been very rarely described in the literature. We report a patient who developed unilateral painless ptosis caused by idiopathic orbital myositis. A 52-year-old man presented with drooping of the right eyelid for 3 days. There was no history of headache, double vision or any other complaints. Neurological examination revealed right ptosis without pupil and extraocular muscles involvement. Repetitive nerve stimulation test was normal. Ptosis did not improve after the neostigmine injection. Magnetic resonance imaging scan showed asymmetric enlargement of right superior rectus/levator palpebrae superioris muscle complex and medial rectus muscle. Ptosis resolved dramatically after oral corticosteroid therapy. Isolated unilateral ptosis can be caused by various etiologies. Idiopathic orbital myositis should be considered in the differential diagnosis of ptosis.

14.
Journal of Korean Medical Science ; : e73-2020.
Article in English | WPRIM | ID: wpr-892099

ABSTRACT

BACKGROUND@#Twin-to-twin transfusion syndrome (TTTS) is a serious complication of monochorionic twin pregnancies. It results from disproportionate blood supply to each fetus caused by abnormal vascular anastomosis within the placenta. Amniotic fluid (AF) is an indicator reflecting the various conditions of the fetus, and an imbalance in AF volume is essential for the antenatal diagnosis of TTTS by ultrasound. In this study, two different mass spectrometry quantitative approaches were performed to identify differentially expressed proteins (DEPs) within matched pairs of AF samples.@*METHODS@#We characterized the AF proteome in pooled AF samples collected from donor and recipient twin pairs (n = 5 each) with TTTS by a global proteomics profiling approach and then preformed the statistical analysis to determine the DEPs between the two groups. Next, we carried out a targeted proteomic approach (multiple reaction monitoring) with DEPs to achieve high-confident TTTS-associated AF proteins.@*RESULTS@#A total of 103 AF proteins that were significantly altered in their abundances between donor and recipient fetuses. The majority of upregulated proteins identified in the recipient twins (including carbonic anhydrase 1, fibrinogen alpha chain, aminopeptidase N, alpha-fetoprotein, fibrinogen gamma chain, and basement membrane-specific heparan sulfate proteoglycan core protein) have been associated with cardiac or dermatologic disease, which is often seen in recipient twins as a result of volume overload. In contrast, proteins significantly upregulated in AF collected from donor twins (including IgGFc-binding protein, apolipoprotein C-I, complement C1q subcomponent subunit B, apolipoprotein C-III, apolipoprotein A-II, decorin, alpha-2-macroglobulin, apolipoprotein A-I, and fibronectin) were those previously shown to be associated with inflammation, ischemic cardiovascular complications or renal disease.@*CONCLUSION@#In this study, we identified proteomic biomarkers in AF collected from donor and recipient twins in pregnancies complicated by TTTS that appear to reflect underlying functional and pathophysiological challenges faced by each of the fetuses.

15.
Journal of Korean Medical Science ; : e20-2019.
Article in English | WPRIM | ID: wpr-719574

ABSTRACT

BACKGROUND: The purpose of this study was to determine prognostic factors that can affect the fetal survival immediate after fetoscopic laser ablation. METHODS: The study population consisted of consecutive twin pregnant women who underwent fetoscopic laser ablation with the diagnosis of twin to twin transfusion syndrome (TTTS) from 2011 to 2018 in Seoul National University Hospital. Fetal survival immediate after procedure was defined as survival to 48 hours after procedure and neonatal survival was defined as survival to 28 days of life. Clinical characteristics and ultrasound findings were compared according to the fetal survival immediate after procedure. RESULTS: A total of 57 pregnant women with TTTS were included, and the overall fetal survival immediate after procedure was 71.1% (81/114) after fetoscopic laser ablation. Fetuses who survived immediate after procedure had higher gestational age at procedure and lower frequency of abnormal Doppler studies than those did not survive. However, the frequency of hydrops was not different between cases with fetal survival and those with fetal death. The earlier gestational age at procedure and the presence of abnormal Doppler studies were significant risk factors for fetal death even after adjustment. CONCLUSION: Based on this data, the fetal survival immediate after procedure (fetoscopic laser treatment) in TTTS can be affected by the gestational age at procedure and the presence of abnormal Doppler studies.


Subject(s)
Female , Humans , Pregnancy , Diagnosis , Edema , Fetal Death , Fetofetal Transfusion , Fetus , Gestational Age , Laser Therapy , Pregnant Women , Risk Factors , Seoul , Twins , Ultrasonography
16.
Journal of the Korean Neurological Association ; : 166-170, 2019.
Article in Korean | WPRIM | ID: wpr-766772

ABSTRACT

Infective endocarditis (IE) is not a common cause of stroke. Considering the high mortality rates, however, IE should always be considered as a possible cause of stroke even when the chances are low. Atrioesophageal fistula is a life-threatening condition that can cause IE and subsequent stroke, but the diagnosis is often delayed due to its rarity. We report a case of multiple embolic infarcts caused by infective endocarditis associated with atrioesophageal fistula after radiofrequency catheter ablation for atrial fibrillation.


Subject(s)
Atrial Fibrillation , Catheter Ablation , Diagnosis , Endocarditis , Esophageal Fistula , Fistula , Mortality , Stroke
17.
Yonsei Medical Journal ; : 798-800, 2018.
Article in English | WPRIM | ID: wpr-716422

ABSTRACT

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the current report showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmitted from both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normal-sized fragments. We report the first case of a genetically confirmed patient with ULD in Korea.


Subject(s)
Humans , Blotting, Southern , Cystatin B , Cysteine Proteases , Diagnosis , Europe , Fathers , Heterozygote , Korea , Mothers , Myoclonic Epilepsies, Progressive , Myoclonus , Prevalence , Seizures , Unverricht-Lundborg Syndrome
18.
Journal of Korean Medical Science ; : e103-2018.
Article in English | WPRIM | ID: wpr-713708

ABSTRACT

BACKGROUND: Maternal obesity is a well-known risk factor for both total preterm birth (PTB) and spontaneous PTB in singleton gestation, whereas this association is not well determined in multiple pregnancy. The objective of this study was to determine the risk of spontaneous PTB according to the pre-pregnancy body mass index (BMI) in twin gestations. METHODS: The association between the risk of PTB and pre-pregnancy BMI was determined in women pregnant with twins between 2004 and 2014. Pre-pregnancy BMI values were divided into three groups (underweight/normal/overweight and obese). PTB was classified as spontaneous PTB (following preterm premature rupture of membranes, preterm labor, or cervical insufficiency) or medically indicated PTB (cesarean section or induction of labor because of maternal/fetal indications). RESULTS: A total of 1,959 women were included in the analysis, and the percentages of total PTB and spontaneous PTB were 13.1% and 9.3%. The percentages of total PTB and spontaneous PTB in three groups were 14.1%, 11.9%, 16.3%, respectively, and 11.0%, 8.0%, 12.5% (P < 0.05 between normal and overweight/obese women). The risks of total and spontaneous PTB in overweight/obese women were higher than those in women with normal weight, even after adjustment for prior history of PTB, age, maternal height, parity, in vitro fertilization-embryo transfer (IVF-ET) (odds ratio [OR], 1.43; 95% confidence interval [CI], 1.01–2.03; OR, 1.58; 95% CI, 1.05–2.36). CONCLUSION: The risks of both total and spontaneous PTB were significantly greater in the overweight/obese group than in the normal BMI group.


Subject(s)
Female , Humans , Pregnancy , Body Mass Index , In Vitro Techniques , Maternal Age , Membranes , Obesity , Obstetric Labor, Premature , Parity , Pregnancy, Multiple , Premature Birth , Risk Factors , Rupture , Twins
19.
Journal of Korean Medical Science ; : e51-2018.
Article in English | WPRIM | ID: wpr-764899

ABSTRACT

BACKGROUND: The objective of this study was to assess the risk of emergency cesarean deliveries (CDs) and adverse neonatal/maternal outcomes according to the planned gestational age at delivery (GAD) for elective CD. METHODS: The study population consisted of term singleton pregnant women who were booked for elective CD and were subsequently delivered at term by CD, after excluding cases with a trial of labor. The relationship between the planned GAD, risk of emergency CD prior to planned date, and adverse neonatal/maternal outcomes were determined. RESULTS: The frequency of emergency CD, adverse neonatal and maternal outcomes were 9.5%, 4.5%, and 5.9%, respectively. The risk of emergency CD prior to the planned delivery date increased significantly according to the planned GAD (5.8% at 37 weeks, 8.2% at 38 weeks, 13.6% at 39 weeks, and 26.7% at 40 weeks or more of planned GAD, P = 0.005). Emergency CD was associated with an increased risk of adverse maternal outcomes, whereas the risk of adverse neonatal outcomes did not differ. In the total study population including both cases with elective and emergency CD, the risk of adverse maternal outcomes did not increase according to the planned GAD, and the risk of adverse neonatal outcomes decreased significantly according to the planned GAD. CONCLUSION: The risk of emergency CD increased as the planned GAD increased, but the risk of adverse maternal outcomes did not increase and the risk of adverse neonatal outcomes decreased significantly according to the planned GAD in the total study population including elective/emergency CD.


Subject(s)
Female , Humans , Emergencies , Gestational Age , Pregnant Women , Trial of Labor
20.
Obstetrics & Gynecology Science ; : 63-70, 2018.
Article in English | WPRIM | ID: wpr-741728

ABSTRACT

OBJECTIVE: In terms of efficacy, several previous studies have shown that the success rate in inhibiting preterm labor was not different between magnesium sulfate and ritodrine. However, there is a paucity of information regarding the efficacy of both medications after consideration of intra-amniotic infection, which is one of the most important prognostic factors in patients of threatened preterm birth. The objective of this study was to compare the efficacy and safety of magnesium sulfate with that of ritodrine in preterm labor. METHODS: In this retrospective cohort study, we included patients who were admitted and treated with either ritodrine or magnesium sulfate with the diagnosis of preterm labor at 24–33.6 weeks of gestational age between January 2005 to April 2015. Patients were divided into 2 groups according to the first-used tocolytics (ritodrine group and magnesium sulfate group). We compared the efficacy and prevalence of side effect in each group. The efficacy of both tocolytics was evaluated in terms of preterm delivery within 48 hours, 7 days, or 37 weeks of gestation and need for 2nd line therapy. RESULTS: A total number of 201 patients were enrolled including 177 cases in ritodrine group and 24 cases in magnesium sulfate group. The efficacy of both tocolytics (preterm delivery within 48 hours, 7 days, or 37 weeks of gestation and need for 2nd line therapy) was not different between the 2 groups of cases. In multivariate analysis, gestational age at treatment, twin gestation, intra-amniotic infection and maternal C-reactive protein (CRP) was associated with treatment failure (preterm delivery within 48 hours), but the type of tocolytics was not significantly associated with treatment failure. The type of side effect was different in the 2 groups, but the frequency of total adverse effect, need for discontinuation of therapy because of maternal adverse effect, and severe adverse effect were not different between the two groups of cases. CONCLUSION: The efficacy and safety of magnesium sulfate was similar to ritodrine, and can be a substitute tocolytics. Additionally, failure of tocolytic therapy was determined by gestational age at treatment, twin gestation, intra-amniotic infection, and maternal CRP, not by the type of tocolytics.


Subject(s)
Female , Humans , Pregnancy , C-Reactive Protein , Cohort Studies , Diagnosis , Gestational Age , Magnesium Sulfate , Magnesium , Multivariate Analysis , Obstetric Labor, Premature , Premature Birth , Prevalence , Retrospective Studies , Ritodrine , Tocolysis , Tocolytic Agents , Treatment Failure , Twins
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