Osamu Samura | The Jikei University School of Medicine (original) (raw)
Papers by Osamu Samura
Human Reproduction, Nov 1, 1997
Using three-colour fluorescence in-situ hybridization, sex chromosome ratios and frequencies of d... more Using three-colour fluorescence in-situ hybridization, sex chromosome ratios and frequencies of diploidy and disomy for chromosomes X, Y and 18 were compared in spermatozoa of good and poor motility after separation by swim-up, glass-wool and two-layer discontinuous Percoll methods. Semen samples were collected from seven normal males aged 26-31 years. A minimum of 6000 sperm nuclei per sample were evaluated for each chromosome for a total of 308 432 sperm nuclei. Hybridization efficiency was 99.8%. A slight change in the ratio of X-to Y-bearing spermatozoa was noted after Percoll separation (from 49.3:49.5 to 50.0:48.9; P = 0.036 and P = 0.046), but not after separation by the other two methods. We did not observe significant differences in the disomy rates for sex chromosomes or chromosome 18 or in the diploidy rate between spermatozoa with good and poor motility after separation by any of the three methods. Our data indicate that separation of motile spermatozoa does not alter the ratio of X-to Y-bearing spermatozoa to a degree that represents sex chromosome selection.
Biomolecules, Jun 17, 2023
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Comprehensive gynecology and obstetrics, Dec 6, 2020
Nihon Rinshō Men'eki Gakkai kaishi, 2010
Microchimerism is deˆned by the presence of circulating cells, bi directionally transferred from... more Microchimerism is deˆned by the presence of circulating cells, bi directionally transferred from one genetically distinct individual to another. The acquisition and persistence of fetal cell microchimerism, small numbers of genetically disparate cells from the fetus in the mother, is now a well recognized consequence of normal pregnancy. Some of the autoimmune diseases that show a predilection for women in their child bearing years and beyond are linked to fetal microchimerism from previous pregnancies. Microchimerism has been investigated in diŠerent autoimmune disorders, such as systemic sclerosis, systemic lupus erythematosus, autoimmune thyroid diseases, and primary biliary cirrhosis. Recent data have demonstrated the promising role of microchimeric cells in the maternal response to tissue injuries by diŠerentiating into many lineages. Therefore, further understanding of fetal maternal microchimerism may help in anticipating its implications in disease as well as in more general women's health issues.
日本産科婦人科學會雜誌, Feb 20, 1996
Journal of Obstetrics and Gynaecology Research, Jun 17, 2020
Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated and da... more Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated and data on NIPT for trisomy 21, 18 and 13 were collected. The data revealed that NIPT is more accurate than conventional first-trimester screening. However, there is still insufficient data regarding the clinical use of NIPT results in detecting sex chromosome aneuploidies or whole-genome regions. NIPT is already being used as a clinical screening method globally. However, it is an unconfirmed diagnostic test and the results must be interpreted with caution as they may yield false negatives, false positives or inconclusive results. Therefore, the aim of this review is to highlight the current status of information, including the different methodologies, shortcomings and implications, regarding NIPT after its adoption worldwide. It is important to include genetic counseling when implementing NIPT. Going forward, the knowledge obtained to date, including the associated shortcomings, must be considered in evaluating the effectiveness of NIPT in detecting genetic abnormalities.
Cells, Oct 17, 2022
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Archives of Disease in Childhood-fetal and Neonatal Edition, Aug 28, 2017
ObjectiveGuidelines recommend individual decision making on resuscitating infants of 22–24 weeks’... more ObjectiveGuidelines recommend individual decision making on resuscitating infants of 22–24 weeks’ gestational age (GA) at birth. When the decision not to resuscitate is made, infants would likely die soon after delivery, and under some circumstances such neonatal deaths may be registered as stillbirths occurring during delivery (intrapartum stillbirth). Thus we assessed whether socioeconomic factors are associated with peridelivery deaths (during or within 1 hour of delivery) of infants delivered at 22–24 weeks’ gestation.MethodsWe analysed 14 726 singletons of 22–24 weeks’ GA using the 2003–2011 Japanese vital statistics, and assessed how maternal characteristics influence risk of peridelivery death as well as intrauterine fetal death (IUFD) and death after 1 hour of age until 40 weeks postmenstrual age.ResultsLiving in a municipality with low-average income (lowest tertile (risk ratio 1.32, 95% CI 1.20 to 1.44), middle tertile (risk ratio 1.08, 95% CI 0.98 to 1.19)), younger maternal age (age <20 (risk ratio 1.43, 95% CI 1.17 to 1.75), age 20–34 (risk ratio 1.14, 95% CI 1.03 to 1.27)) and having previous live births (risk ratio 1.08, 95% CI 1.01 to 1.17) increased risk of peridelivery deaths, but did not increase risk of IUFD or deaths after 1 hour of age. Peridelivery death was twice as likely to occur in births to multiparous teenage mothers in a low-income municipality, compared with those of older primiparous mothers in a wealthier municipality.ConclusionsSocioeconomic factors substantially influence whether births of 22–24 weeks’ GA survive delivery and the first hour of life. Such disparities may reflect the impact of socioeconomic situations on decision making for resuscitation.
Taiwanese Journal of Obstetrics & Gynecology, Mar 1, 2022
Objective Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused the coronavirus... more Objective Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused the coronavirus disease 2019 (COVID-19) pandemic. Owing to limited information, the impact and clinical course of COVID-19 in pregnant women and newborns remain unclear. Here, we report the clinical course of a full-term pregnant woman with COVID-19 and her newborn. Case report A 27-year-old pregnant woman with a fever and sore throat was diagnosed with COVID-19. To prevent and control SARS-CoV-2 infection to the newborn and medical staff, delivery was performed via cesarean section. Reverse-transcription quantitative polymerase chain reaction results of the placenta, umbilical cord, cord blood, amniotic fluid, vaginal fluid, breastmilk, newborn anal wipes, and nasopharyngeal samples were negative for SARS-CoV-2. An acute increase in maternal blood pressure and HELLP syndrome-like blood data fluctuations were observed after delivery. Conclusion Perinatal management of patients with COVID-19 could be safely performed for medical staff and newborns under adequate infection control measures.
Journal of Obstetrics and Gynaecology Research, Jun 28, 2023
Here, we aimed to provide an overview of Japan Council for the Implementation of the Maternal Eme... more Here, we aimed to provide an overview of Japan Council for the Implementation of the Maternal Emergency Life‐Saving System (J‐CIMELS) and its simulation program, which has reduced maternal mortality due to direct causes in Japan. The Japan Association of Obstetricians and Gynecologists (JAOG), Japan Association of Obstetricians and Gynecologists, and Maternal Death Exploratory Committee (JMDEC) launched the Maternal Death Reporting Project in 2010. The project analyzed obstetricians' tendency to delay their initial response to sudden maternal deterioration. Obstetricians can predict small changes before deterioration by monitoring vital signs. In 2015, the J‐CIMELS was established to provide practical education. J‐CIMELS developed a simulation program (J‐MELS; Japan Maternal Emergency Life Support) to ensure that the obstetricians acquire the latest knowledge of emergency physicians, anesthesiologists, and other general practitioners and apply it in clinical situations. In the last 7 years, the J‐MELS basic course has been conducted 1000 times with a total attendance of 19 890 people. As a result, the incidence of obstetric hemorrhage progressively decreased from 29% in 2010 to 7% in 2020. We believe that the activities of J‐CIMELS are improving obstetric care providers' medical practices in Japan.
Human Reproduction, Apr 1, 2001
Frequencies of disomy and diploidy in spermatozoa for chromosomes X, Y and 18 were compared among... more Frequencies of disomy and diploidy in spermatozoa for chromosomes X, Y and 18 were compared among severe oligozoospermic men (<5⍥10 6 spermatozoa/ml), oligozoospermic men (5-20⍥10 6 spermatozoa/ml), and normospermic men using three-colour fluorescence in-situ hybridization (FISH). Semen samples were collected from 10 severe oligozoospermic men aged 26-49 years, 10 oligozoospermic men aged 27-48 years and seven normospermic men aged 25-31 years. Karyotypes in lymphocytes obtained from peripheral blood were all 46,XY. In severe oligozoospermic men, analysis of 200 interphases per individual using FISH showed XY constitutions for sex chromosomes in all cells. A minimum of 10 000 sperm nuclei per individual for each chromosome was evaluated in severe oligozoospermic men and oligozoospermic men, and a minimum of 6000 sperm nuclei per individual in normospermic men. In total, 245 707 sperm nuclei were evaluated. The hybridization efficiency was 99.8%. The severe oligozoospermic men showed significantly higher frequencies of XY disomy (0.41%) and diploidy (0.49%) compared with oligozoospermic men (0.16%, P < 0.01; 0.22%, P < 0.05) and normospermic men (0.18%, P < 0.05; 0.21%, P < 0.05) (Mann-Whitney U-test). The data suggest that when severe oligozoospermic men undergo intracytoplasmic sperm injection, there can be an increase in the rate of conceptuses with 47,XXY chromosomes.
Placenta, Oct 1, 2021
Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.
BMC Pregnancy and Childbirth, Jun 28, 2022
Background: It is worthwhile to identify women at risk of developing postpartum depression during... more Background: It is worthwhile to identify women at risk of developing postpartum depression during pregnancy. This study aimed to determine the optimal time and cutoff score for antenatal screening for prediction of postpartum depressive symptoms (PDS) using the Edinburgh Postnatal Depression Scale (EPDS) and to identify risk factors for PDS. Methods: The target population was healthy pregnant women receiving antenatal care at a university hospital in Tokyo, Japan. During the first, second, and third trimesters, 3-4 days postpartum, and one month postpartum, they were asked to take the Japanese version of the EPDS questionnaire. The primary outcome of the study was PDS, defined as an EPDS score ≥ 9 at one month postpartum. The area under the receiver operating characteristics curve (AUC), sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of EPDS scores at each antenatal screening time were calculated. Results: From 139 pregnant women, 129 were successfully followed up throughout the study. The number of women with an EPDS score ≥ 9 during the first, second, and third trimesters, 3-4 days postpartum, and one month postpartum were 6/126 (4.8%), 9/124 (7.3%), 5/117 (4.3%), 17/123 (13.8%), and 15/123 (12.2%), respectively. Screening during the second trimester had the highest AUC to predict PDS (0.89) among antenatal screenings. The optimal EPDS cutoff score during the second trimester was 4/5 (sensitivity: 85.7%; specificity: 77.1%; PPV: 33.3%; NPV: 97.6%). An EPDS score ≥ 5 during the second trimester (adjusted odds ratio [aOR]: 15.9; 95% confidence interval [95%CI]: 3.2-78.1) and a family history of mental illness (aOR: 4.5; 95%CI: 1.2-17.5) were significantly associated with PDS. Conclusions: Our study suggests that the EPDS score at the second trimester with the cutoff value of 4/5 may be adequate for initial screening for prediction of PDS. Women with an EPDS score ≥ 5 at the second trimester require more elaborate follow-up.
American Journal of Medical Genetics, Dec 27, 2019
We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized b... more We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation in solute carrier family 26 member 2 (SLC26A2), a gene associated with ACG1B (NM_000112:c.1987G>A). This loss-of-function point mutation causes substitution of glycine 663 with arginine in a highly conserved loop domain of SLC26A2. Interestingly, only a few cases of this mutation have been registered in Japanese genomic databases, and there are no reports of this mutation in any major genomic databases outside Japan. Furthermore, we confirmed the presence of a homozygous stretch of approximately 75 kb surrounding the pathogenic variant. Our findings suggest that this missense point mutation in SLC26A2, which is likely the cause of the ACG1B phenotypes in these unrelated fetuses, is distributed exclusively in Japan.
American Journal of Perinatology Reports, Oct 1, 2019
Congenital sick sinus syndrome (SSS) is characterized by dysfunction of the sinoatrial node which... more Congenital sick sinus syndrome (SSS) is characterized by dysfunction of the sinoatrial node which results in inappropriate sinus bradycardia, sinus arrest, or chronotropic incompetence. Approximately 80% children with SSS have a history of cardiac surgery for congenital heart disease (CHD), 1-4 and SSS is also observed in fetuses with CHD. 5 However, detailed mechanisms underlying the development of SSS are not fully understood. Although the incidence of fetal SSS is not fully understood, it accounts for approximately 50% of cases of bradycardia with CHD and 9% of cases of bradycardia without CHD. 5 Tricuspid regurgitation might cause SSS, but there is no report about the relationship between SSS and PSR during pregnancy, particularly in spontaneously resolved cases. Here we report a case of fetal SSS caused by pulmonary stenosis regurgitation (PSR) that spontaneously resolved during pregnancy.
Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological sympto... more Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological symptoms are irreversibly impaired after birth. No effective treatment has been reported to date. Only surgical repairs have reported so far. In this study, we performed antenatal treatment of MMC with an artificial skin using induced pluripotent stem cells (iPSCs) generated from a patient with Down syndrome (AF-T21-iPSCs) and twin-twin transfusion syndrome (AF-TTTS-iPSCs) to a rat model. We manufactured three-dimensional skin with epidermis generated from keratinocytes derived from AF-T21-iPSCs and AF-TTTS-iPSCs and dermis of human fibroblasts and collagen type I. For generation of epidermis, we developed a novel protocol using Y-27632 and epidermal growth factor. The artificial skin was successfully covered over MMC defect sites during pregnancy, implying a possible antenatal surgical treatment with iPSC technology. .
Journal of Dermatology, Mar 15, 2021
Ehlers– Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited co... more Ehlers– Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders. Many types of EDS have been discovered over the past years. Although EDS is characterized by shared clinical features, including joint hypermobility, skin hyperextensibility, and tissue fragility, EDS international classification identified 13 types of EDS by underlying mutated genes and specific clinical characteristics.1 Among them, noncollagenous classicallike EDS (clEDS; Online Mendelian Inheritance in Man #606408) is caused by tenascinX deficiency resulting from homozygous or compound heterozygous mutations in the TNXB gene.1 Here, we report a pregnant case of clEDS with a novel TNXB mutation. A 31yearold, 4 months’ pregnant Japanese woman was referred with the main complaints of skin hyperextensibility and joint hypermobility (Figure 1a; Beighton score, 9/9) on the recommendation of
Human Reproduction, Nov 1, 1997
Using three-colour fluorescence in-situ hybridization, sex chromosome ratios and frequencies of d... more Using three-colour fluorescence in-situ hybridization, sex chromosome ratios and frequencies of diploidy and disomy for chromosomes X, Y and 18 were compared in spermatozoa of good and poor motility after separation by swim-up, glass-wool and two-layer discontinuous Percoll methods. Semen samples were collected from seven normal males aged 26-31 years. A minimum of 6000 sperm nuclei per sample were evaluated for each chromosome for a total of 308 432 sperm nuclei. Hybridization efficiency was 99.8%. A slight change in the ratio of X-to Y-bearing spermatozoa was noted after Percoll separation (from 49.3:49.5 to 50.0:48.9; P = 0.036 and P = 0.046), but not after separation by the other two methods. We did not observe significant differences in the disomy rates for sex chromosomes or chromosome 18 or in the diploidy rate between spermatozoa with good and poor motility after separation by any of the three methods. Our data indicate that separation of motile spermatozoa does not alter the ratio of X-to Y-bearing spermatozoa to a degree that represents sex chromosome selection.
Biomolecules, Jun 17, 2023
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Comprehensive gynecology and obstetrics, Dec 6, 2020
Nihon Rinshō Men'eki Gakkai kaishi, 2010
Microchimerism is deˆned by the presence of circulating cells, bi directionally transferred from... more Microchimerism is deˆned by the presence of circulating cells, bi directionally transferred from one genetically distinct individual to another. The acquisition and persistence of fetal cell microchimerism, small numbers of genetically disparate cells from the fetus in the mother, is now a well recognized consequence of normal pregnancy. Some of the autoimmune diseases that show a predilection for women in their child bearing years and beyond are linked to fetal microchimerism from previous pregnancies. Microchimerism has been investigated in diŠerent autoimmune disorders, such as systemic sclerosis, systemic lupus erythematosus, autoimmune thyroid diseases, and primary biliary cirrhosis. Recent data have demonstrated the promising role of microchimeric cells in the maternal response to tissue injuries by diŠerentiating into many lineages. Therefore, further understanding of fetal maternal microchimerism may help in anticipating its implications in disease as well as in more general women's health issues.
日本産科婦人科學會雜誌, Feb 20, 1996
Journal of Obstetrics and Gynaecology Research, Jun 17, 2020
Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated and da... more Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated and data on NIPT for trisomy 21, 18 and 13 were collected. The data revealed that NIPT is more accurate than conventional first-trimester screening. However, there is still insufficient data regarding the clinical use of NIPT results in detecting sex chromosome aneuploidies or whole-genome regions. NIPT is already being used as a clinical screening method globally. However, it is an unconfirmed diagnostic test and the results must be interpreted with caution as they may yield false negatives, false positives or inconclusive results. Therefore, the aim of this review is to highlight the current status of information, including the different methodologies, shortcomings and implications, regarding NIPT after its adoption worldwide. It is important to include genetic counseling when implementing NIPT. Going forward, the knowledge obtained to date, including the associated shortcomings, must be considered in evaluating the effectiveness of NIPT in detecting genetic abnormalities.
Cells, Oct 17, 2022
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Archives of Disease in Childhood-fetal and Neonatal Edition, Aug 28, 2017
ObjectiveGuidelines recommend individual decision making on resuscitating infants of 22–24 weeks’... more ObjectiveGuidelines recommend individual decision making on resuscitating infants of 22–24 weeks’ gestational age (GA) at birth. When the decision not to resuscitate is made, infants would likely die soon after delivery, and under some circumstances such neonatal deaths may be registered as stillbirths occurring during delivery (intrapartum stillbirth). Thus we assessed whether socioeconomic factors are associated with peridelivery deaths (during or within 1 hour of delivery) of infants delivered at 22–24 weeks’ gestation.MethodsWe analysed 14 726 singletons of 22–24 weeks’ GA using the 2003–2011 Japanese vital statistics, and assessed how maternal characteristics influence risk of peridelivery death as well as intrauterine fetal death (IUFD) and death after 1 hour of age until 40 weeks postmenstrual age.ResultsLiving in a municipality with low-average income (lowest tertile (risk ratio 1.32, 95% CI 1.20 to 1.44), middle tertile (risk ratio 1.08, 95% CI 0.98 to 1.19)), younger maternal age (age <20 (risk ratio 1.43, 95% CI 1.17 to 1.75), age 20–34 (risk ratio 1.14, 95% CI 1.03 to 1.27)) and having previous live births (risk ratio 1.08, 95% CI 1.01 to 1.17) increased risk of peridelivery deaths, but did not increase risk of IUFD or deaths after 1 hour of age. Peridelivery death was twice as likely to occur in births to multiparous teenage mothers in a low-income municipality, compared with those of older primiparous mothers in a wealthier municipality.ConclusionsSocioeconomic factors substantially influence whether births of 22–24 weeks’ GA survive delivery and the first hour of life. Such disparities may reflect the impact of socioeconomic situations on decision making for resuscitation.
Taiwanese Journal of Obstetrics & Gynecology, Mar 1, 2022
Objective Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused the coronavirus... more Objective Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused the coronavirus disease 2019 (COVID-19) pandemic. Owing to limited information, the impact and clinical course of COVID-19 in pregnant women and newborns remain unclear. Here, we report the clinical course of a full-term pregnant woman with COVID-19 and her newborn. Case report A 27-year-old pregnant woman with a fever and sore throat was diagnosed with COVID-19. To prevent and control SARS-CoV-2 infection to the newborn and medical staff, delivery was performed via cesarean section. Reverse-transcription quantitative polymerase chain reaction results of the placenta, umbilical cord, cord blood, amniotic fluid, vaginal fluid, breastmilk, newborn anal wipes, and nasopharyngeal samples were negative for SARS-CoV-2. An acute increase in maternal blood pressure and HELLP syndrome-like blood data fluctuations were observed after delivery. Conclusion Perinatal management of patients with COVID-19 could be safely performed for medical staff and newborns under adequate infection control measures.
Journal of Obstetrics and Gynaecology Research, Jun 28, 2023
Here, we aimed to provide an overview of Japan Council for the Implementation of the Maternal Eme... more Here, we aimed to provide an overview of Japan Council for the Implementation of the Maternal Emergency Life‐Saving System (J‐CIMELS) and its simulation program, which has reduced maternal mortality due to direct causes in Japan. The Japan Association of Obstetricians and Gynecologists (JAOG), Japan Association of Obstetricians and Gynecologists, and Maternal Death Exploratory Committee (JMDEC) launched the Maternal Death Reporting Project in 2010. The project analyzed obstetricians' tendency to delay their initial response to sudden maternal deterioration. Obstetricians can predict small changes before deterioration by monitoring vital signs. In 2015, the J‐CIMELS was established to provide practical education. J‐CIMELS developed a simulation program (J‐MELS; Japan Maternal Emergency Life Support) to ensure that the obstetricians acquire the latest knowledge of emergency physicians, anesthesiologists, and other general practitioners and apply it in clinical situations. In the last 7 years, the J‐MELS basic course has been conducted 1000 times with a total attendance of 19 890 people. As a result, the incidence of obstetric hemorrhage progressively decreased from 29% in 2010 to 7% in 2020. We believe that the activities of J‐CIMELS are improving obstetric care providers' medical practices in Japan.
Human Reproduction, Apr 1, 2001
Frequencies of disomy and diploidy in spermatozoa for chromosomes X, Y and 18 were compared among... more Frequencies of disomy and diploidy in spermatozoa for chromosomes X, Y and 18 were compared among severe oligozoospermic men (<5⍥10 6 spermatozoa/ml), oligozoospermic men (5-20⍥10 6 spermatozoa/ml), and normospermic men using three-colour fluorescence in-situ hybridization (FISH). Semen samples were collected from 10 severe oligozoospermic men aged 26-49 years, 10 oligozoospermic men aged 27-48 years and seven normospermic men aged 25-31 years. Karyotypes in lymphocytes obtained from peripheral blood were all 46,XY. In severe oligozoospermic men, analysis of 200 interphases per individual using FISH showed XY constitutions for sex chromosomes in all cells. A minimum of 10 000 sperm nuclei per individual for each chromosome was evaluated in severe oligozoospermic men and oligozoospermic men, and a minimum of 6000 sperm nuclei per individual in normospermic men. In total, 245 707 sperm nuclei were evaluated. The hybridization efficiency was 99.8%. The severe oligozoospermic men showed significantly higher frequencies of XY disomy (0.41%) and diploidy (0.49%) compared with oligozoospermic men (0.16%, P < 0.01; 0.22%, P < 0.05) and normospermic men (0.18%, P < 0.05; 0.21%, P < 0.05) (Mann-Whitney U-test). The data suggest that when severe oligozoospermic men undergo intracytoplasmic sperm injection, there can be an increase in the rate of conceptuses with 47,XXY chromosomes.
Placenta, Oct 1, 2021
Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.
BMC Pregnancy and Childbirth, Jun 28, 2022
Background: It is worthwhile to identify women at risk of developing postpartum depression during... more Background: It is worthwhile to identify women at risk of developing postpartum depression during pregnancy. This study aimed to determine the optimal time and cutoff score for antenatal screening for prediction of postpartum depressive symptoms (PDS) using the Edinburgh Postnatal Depression Scale (EPDS) and to identify risk factors for PDS. Methods: The target population was healthy pregnant women receiving antenatal care at a university hospital in Tokyo, Japan. During the first, second, and third trimesters, 3-4 days postpartum, and one month postpartum, they were asked to take the Japanese version of the EPDS questionnaire. The primary outcome of the study was PDS, defined as an EPDS score ≥ 9 at one month postpartum. The area under the receiver operating characteristics curve (AUC), sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of EPDS scores at each antenatal screening time were calculated. Results: From 139 pregnant women, 129 were successfully followed up throughout the study. The number of women with an EPDS score ≥ 9 during the first, second, and third trimesters, 3-4 days postpartum, and one month postpartum were 6/126 (4.8%), 9/124 (7.3%), 5/117 (4.3%), 17/123 (13.8%), and 15/123 (12.2%), respectively. Screening during the second trimester had the highest AUC to predict PDS (0.89) among antenatal screenings. The optimal EPDS cutoff score during the second trimester was 4/5 (sensitivity: 85.7%; specificity: 77.1%; PPV: 33.3%; NPV: 97.6%). An EPDS score ≥ 5 during the second trimester (adjusted odds ratio [aOR]: 15.9; 95% confidence interval [95%CI]: 3.2-78.1) and a family history of mental illness (aOR: 4.5; 95%CI: 1.2-17.5) were significantly associated with PDS. Conclusions: Our study suggests that the EPDS score at the second trimester with the cutoff value of 4/5 may be adequate for initial screening for prediction of PDS. Women with an EPDS score ≥ 5 at the second trimester require more elaborate follow-up.
American Journal of Medical Genetics, Dec 27, 2019
We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized b... more We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation in solute carrier family 26 member 2 (SLC26A2), a gene associated with ACG1B (NM_000112:c.1987G>A). This loss-of-function point mutation causes substitution of glycine 663 with arginine in a highly conserved loop domain of SLC26A2. Interestingly, only a few cases of this mutation have been registered in Japanese genomic databases, and there are no reports of this mutation in any major genomic databases outside Japan. Furthermore, we confirmed the presence of a homozygous stretch of approximately 75 kb surrounding the pathogenic variant. Our findings suggest that this missense point mutation in SLC26A2, which is likely the cause of the ACG1B phenotypes in these unrelated fetuses, is distributed exclusively in Japan.
American Journal of Perinatology Reports, Oct 1, 2019
Congenital sick sinus syndrome (SSS) is characterized by dysfunction of the sinoatrial node which... more Congenital sick sinus syndrome (SSS) is characterized by dysfunction of the sinoatrial node which results in inappropriate sinus bradycardia, sinus arrest, or chronotropic incompetence. Approximately 80% children with SSS have a history of cardiac surgery for congenital heart disease (CHD), 1-4 and SSS is also observed in fetuses with CHD. 5 However, detailed mechanisms underlying the development of SSS are not fully understood. Although the incidence of fetal SSS is not fully understood, it accounts for approximately 50% of cases of bradycardia with CHD and 9% of cases of bradycardia without CHD. 5 Tricuspid regurgitation might cause SSS, but there is no report about the relationship between SSS and PSR during pregnancy, particularly in spontaneously resolved cases. Here we report a case of fetal SSS caused by pulmonary stenosis regurgitation (PSR) that spontaneously resolved during pregnancy.
Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological sympto... more Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological symptoms are irreversibly impaired after birth. No effective treatment has been reported to date. Only surgical repairs have reported so far. In this study, we performed antenatal treatment of MMC with an artificial skin using induced pluripotent stem cells (iPSCs) generated from a patient with Down syndrome (AF-T21-iPSCs) and twin-twin transfusion syndrome (AF-TTTS-iPSCs) to a rat model. We manufactured three-dimensional skin with epidermis generated from keratinocytes derived from AF-T21-iPSCs and AF-TTTS-iPSCs and dermis of human fibroblasts and collagen type I. For generation of epidermis, we developed a novel protocol using Y-27632 and epidermal growth factor. The artificial skin was successfully covered over MMC defect sites during pregnancy, implying a possible antenatal surgical treatment with iPSC technology. .
Journal of Dermatology, Mar 15, 2021
Ehlers– Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited co... more Ehlers– Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders. Many types of EDS have been discovered over the past years. Although EDS is characterized by shared clinical features, including joint hypermobility, skin hyperextensibility, and tissue fragility, EDS international classification identified 13 types of EDS by underlying mutated genes and specific clinical characteristics.1 Among them, noncollagenous classicallike EDS (clEDS; Online Mendelian Inheritance in Man #606408) is caused by tenascinX deficiency resulting from homozygous or compound heterozygous mutations in the TNXB gene.1 Here, we report a pregnant case of clEDS with a novel TNXB mutation. A 31yearold, 4 months’ pregnant Japanese woman was referred with the main complaints of skin hyperextensibility and joint hypermobility (Figure 1a; Beighton score, 9/9) on the recommendation of