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2. Changing risk factors for postpartum depression in mothers admitted to a perinatal center

Author

Yoshihiro Sakemi, Toshinori Nakashima, Kyoko Watanabe, Masayuki Ochiai, Toru Sawano, Hirosuke Inoue, Kosuke Kawakami, Shuichi Isomura, Hironori Yamashita, and Shouichi Ohga

Subjects
Edinburgh postnatal depression scale, Postpartum depression, Neonatal intensive care unit, Maternal aging, Cesarean section, Pediatrics, RJ1-570
Abstract

Background: The Edinburgh postnatal depression scale (EPDS) is commonly used in screening for major postpartum depression (PPD). We explored the clinical factors associated with score changes. Methods: Mothers (n=1,287) who delivered a single live-born infant in Kokura Medical Center in Japan during 2018–2019 were analyzed. The EPDS-Japanese version was conducted at the first and fourth weeks after childbirth. Scores of ≥9 were considered to indicate an increased risk of PPD. Results: The scores improved during the four-week period (5.03±0.12 to 3.79±0.10). Primiparity, Cesarean section (CS), and a low Apgar score were identified as initial risk factors, however, primiparity remained in the multivariate analysis (aOR 2.02, 95% CI 1.37–2.97). Age ≥35 years was associated with worsened scores (aOR 1.88, 95%CI 1.01–3.51), but CS improved (aOR 0.38, 95%CI 0.21–0.70). Primiparity, CS, and neonatal respiratory support were the initial risk factors, while infant anomaly was a late risk factor in mothers whose infants were admitted to the neonatal intensive care unit (NICU) (aOR 3.35, 95%CI 1.31–8.56). In mothers of infants with an NICU stay of ≥4 weeks, infant anomaly was associated with worsened scores (aOR 6.61, 95%CI 1.11–39.3), while respiratory support was associated with improved scores (aOR 0.09, 95%CI 0.01–0.65). Twenty-six mothrs with worsened scores received psychiatric support; three developed PPD. Two of the three were ≥35 years of age, neither of their infants had anomalies. Conclusion: Maternal aging and infant anomaly were risk factors for PPD. PPD occurred in mothers with worsened EPDS scores after mental care. Puerperants with worsening risk factors should be targeted to control PPD.

Published
2023
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3. Effectiveness of umbilical culture for surveillance of methicillin-resistant

Author

Toshinori, Nakashima, Hirosuke, Inoue, Yoshihiro, Sakemi, and Hironori, Yamashita

Abstract

To compare the culture sensitivities of MRSA detection, we collected 988 paired umbilical and nasal cultures from screened neonates. MRSA positivity rates were 79.1% from umbilicus and 41.9% from nares (

Published
2022

4. Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome

Author

Toshinori Nakashima, Kaduki Khono, Takanobu Inoue, Tsutomu Ogata, Akie Nakamura, Keiko Matsubara, Moeko Nakashima, Yoshihiro Sakemi, Masayo Kagami, Hironori Yamashita, Kenichiro Hata, Kazuhiko Nakabayashi, Hideki Fujita, Kazuki Yamazawa, Keisuke Enomoto, and Tatsuo Matsunaga

Subjects
Male, 0301 basic medicine, Clinodactyly, 030105 genetics & heredity, Biology, Genomic Imprinting, 03 medical and health sciences, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Epigenetics, Imprinting (psychology), Allele, Child, Genetics (clinical), DNA methylation, Fetal Growth Retardation, Silver–Russell syndrome, medicine.disease, Silver-Russell Syndrome, 030104 developmental biology, genetics, medical, medicine.symptom, Genomic imprinting, Transcription Factors
Abstract

BackgroundZNF597, encoding a zinc-finger protein, is the human-specific maternally expressed imprinted gene located on 16p13.3. The parent-of-origin expression of ZNF597 is regulated by the ZNF597:TSS-DMR, of which only the paternal allele acquires methylation during postimplantation period. Overexpression of ZNF597 may contribute to some of the phenotypes associated with maternal uniparental disomy of chromosome 16 (UPD(16)mat), and some patients with UPD(16)mat presenting with Silver-Russell syndrome (SRS) phenotype have recently been reported.MethodsA 6-year-old boy presented with prenatal growth restriction, macrocephaly at birth, forehead protrusion in infancy and clinodactyly of the fifth finger. Methylation, expression, microsatellite marker, single nucleotide polymorphism array and trio whole-exome sequencing analyses were conducted.ResultsIsolated hypomethylation of the ZNF597:TSS-DMR and subsequent loss of imprinting and overexpression of ZNF597 were confirmed in the patient. Epigenetic alterations, such as UPD including UPD(16)mat and other methylation defects, were excluded. Pathogenic sequence or copy number variants affecting his phenotypes were not identified, indicating that primary epimutation occurred postzygotically.ConclusionWe report the first case of isolated ZNF597 imprinting defect, showing phenotypic overlap with SRS despite not satisfying the clinical SRS criteria. A novel imprinting disorder entity involving the ZNF597 imprinted domain can be speculated.

Published
2020
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5. Abnormal placental cord insertion, hypertensive disorders of pregnancy and birth length may be involved in development of hypospadias in male fetuses

Author

Yoshihiro Sakemi, Takeshi Shono, Toshinori Nakashima, Hironori Yamashita, Noriko Sugino, and Motoki Bonno

Subjects
Male, Embryology, Hypospadias, Health, Toxicology and Mutagenesis, Placenta, Infant, Newborn, Hypertension, Pregnancy-Induced, Toxicology, Fetus, Pregnancy, Pediatrics, Perinatology and Child Health, Humans, Female, Developmental Biology, Retrospective Studies
Abstract

Hypospadias is a congenital disease characterized by morphological abnormalities of the penis, including abnormal urethral opening and penile flexion, which cause urination disorders and/or sexual intercourse difficulty. Various factors have been suggested to cause this anomaly, but evidence concerning risk factors causing this anomaly is insufficient. We evaluated the etiology of hypospadias in Japan using the Common Database of the National Hospitals' Neonatal study group.We retrospectively evaluated 7,865 male neonates registered in the NICU Common Database of the National Hospitals' Neonatal study group. The subjects were divided into two groups by the presence (n = 43) or absence (n = 7,822) of hypospadias. Statistical analyses were performed to compare nominal variables between the groups by Fisher's direct establishment calculation method and logistic regression analyses.A univariate analysis showed significant between-group differences in hypertensive disorders in pregnancy (odds ratio [OR]: 4.02, 95% confidence interval [CI]: 1.95-7.90), placental weight-1.28 standard deviation (SD; OR: 5.06, 95% CI: 2.45-10.32), abnormal placental cord insertion (OR: 4.7, 95% CI: 2.62-9.76), birth length-2SD (OR: 10.56, 95% CI: 5.00-21.1) and birth weight-2SD (OR: 8.17, 95% CI: 4.17-15.68). A multivariate analysis showed a significant between-group difference in hypertensive disorders of pregnancy (adjusted OR [AOR]: 2.30, 95% CI: 1.09-4.85), abnormal placental cord insertion (AOR: 3.69, 95% CI: 1.83-7.44) and birth length-2SD (AOR: 3.44, 95% CI: 1.26-9.42).Abnormal placental cord insertion, hypertensive disorders of pregnancy and birth length may be involved in hypospadias development in male neonates in conjunction with placental dysfunction in early pregnancy.

Published
2021

6. Variations in Neonatal Length of Stay of Babies Born Extremely Preterm: An International Comparison Between iNeo Networks

Author

Sarah E. Seaton, Elizabeth S. Draper, Mark Adams, Satoshi Kusuda, Stellan Håkansson, Kjell Helenius, Brian Reichman, Liisa Lehtonen, Dirk Bassler, Shoo K. Lee, Maximo Vento, Brian A. Darlow, Franca Rusconi, Marc Beltempo, Tetsuya Isayama, Kei Lui, Mikael Norman, Junmin Yang, Prakesh S. Shah, Neena Modi, Peter Marshall, Peter Schmidt, Anjali Dhawan, Larissa Korostenski, Javeed Travadi Travadi, Mary Sharp, Andy Gill, Jane Pillow, Jacqueline Stack, Pita Birch, Karen Nothdurft, Lucy Cooke, Dan Casalaz, Jim Holberton, Alice Stewart, Lyn Downe, Michael Stewart, Andrew Berry, Rod Hunt, Peter Morris, Tony De Paoli, Srinivas Bolisetty, Mary Paradisis, Mark Greenhalgh, Pieter Koorts, Carl Kuschel, Sue Jacobs, Lex Doyle, John Craven, Andrew Numa, Hazel Carlisle, Nadia Badawi, Himanshu Popat, Guan Koh, Jonathan Davis, Melissa Luig, Bevan Headley, Chad Andersen, Linda Ng, Georgina Chambers, Nicola Austin, Adrienne Lynn, Brian Darlow, Liza Edmonds, Lindsay Mildenhall, Mariam Buksh, Malcolm Battin, Jutta van den Boom, Vaughan Richardson, David Barker, Barbara Hammond, Victor Samuel Rajadurai, Simon Lam, Genevieve Fung, Jaideep Kanungo, Joseph Ting, Zenon Cieslak, Rebecca Sherlock, Ayman Abou Mehrem, Jennifer Toye, Khalid Aziz, Carlos Fajardo, Jaya Bodani, Lannae Strueby, Mary Seshia, Deepak Louis, Ruben Alvaro, Amit Mukerji, Orlando Da Silva, Mohammad Adie, Kyong-Soon Lee, Eugene Ng, Brigitte Lemyre, Thierry Daboval, Faiza Khurshid, Ermelinda Pelausa, Keith Barrington, Anie Lapoint, Guillaume Ethier, Christine Drolet, Bruno Piedboeuf, Martine Claveau, Marie St-Hilaire, Valerie Bertelle, Edith Masse, Roderick Canning, Hala Makary, Cecil Ojah, Luis Monterrosa, Julie Emberley, Jehier Afifi, Andrzej Kajetanowicz, Marjo Metsäranta, Outi Tammela, Ulla Sankilampi, Timo Saarela, Iris Morag, Shmuel Zangen, Tatyana Smolkin, Francis Mimouni, David Bader, Avi Rothschild, Zipora Strauss, Clari Felszer, Hussam Omari, Smadar Even Tov-Friedman, Benjamin Bar-Oz, Michael Feldman, Nizar Saad, Orna Flidel-Rimon, Meir Weisbrod, Daniel Lubin, Ita Litmanovitz, Amir Kugelman, Eric Shinwell, Gil Klinger, Yousif Nijim, Alona Bin-Nun, Agneta Golan, Dror Mandel, Vered Fleisher-Sheffer, Anat Oron, Lev Bakhrakh, Satoshi Hattori, Masaru Shirai, Toru Ishioka, Toshihiko Mori, Takasuke Amizuka, Toru Huchimukai, Hiroshi Yoshida, Ayako Sasaki, Junichi Shimizu, Toshihiko Nakamura, Mami Maruyama, Hiroshi Matsumoto, Shinichi Hosokawa, Atsuko Taki, Machiko Nakagawa, Kyone Ko, Azusa Uozumi, Setsuko Nakata, Akira Shimazaki, Tatsuya Yoda, Osamu Numata, Hiroaki Imamura, Azusa Kobayashi, Shuko Tokuriki, Yasushi Uchida, Takahiro Arai, Mitsuhiro Ito, Kuniko Ieda, Toshiyuki Ono, Masashi Hayashi, Kanemasa Maki, MieToru Yamakawa, Masahiko Kawai, Noriko Fujii, Kozue Shiomi, Koji Nozaki, Hiroshi Wada, Taho Kim, Yasuyuki Tokunaga, Akihiro Takatera, Toshio Oshima, Hiroshi Sumida, Yae Michinomae, Yoshio Kusumoto, Seiji Yoshimoto, Takeshi Morisawa, Tamaki Ohashi, Yukihiro Takahashi, Moriharu Sugimoto, Noriaki Ono, Shinichiro Miyagawa, Takahiko Saijo, Takashi Yamagami, Kosuke Koyano, Shoko Kobayashi, Takeshi Kanda, Yoshihiro Sakemi, Mikio Aoki, Koichi Iida, Mitsushi Goshi, Yuko Maruyama, Alejandro Avila-Alvarez, José Luis Fernandez-Trisac, Ma Luz Couce Pico, María José Fernández Seara, Andrés Martínez Gutiérrez, Carolina Vizcaíno, Miriam Salvador Iglesias, Honorio Sánchez Zaplana, Belén Fernández Colomer, José Enrique García López, Rafael García Mozo, M. Teresa González Martínez, Ma Dolores Muro Sebastián, Marta Balart Carbonell, Joan Badia Barnusell, Mònica Domingo Puiggròs, Josep Figueras Aloy, Francesc Botet Mussons, Israel Anquela Sanz, Gemma Ginovart Galiana, W. Coroleu, Martin Iriondo, Laura Castells Vilella, Roser Porta, Xavier Demestre, Silvia Martínez Nadal, Cristina de Frutos Martínez, María Jesús López Cuesta, Dolores Esquivel Mora, Joaquín Ortiz Tardío, Isabel Benavente, Almudena Alonso, Ramón Aguilera Olmos, Miguel A. García Cabezas, Ma Dolores Martínez Jiménez, Ma Pilar Jaraba Caballero, Ma Dolores Ordoñez Díaz, Alberto Trujillo Fagundo, Lluis Mayol Canals, Fermín García-Muñoz Rodrigo, Lourdes Urquía Martí, María Fernanda Moreno Galdo, José Antonio Hurtado Suazo, Eduardo Narbona López, José Uberos Fernández, Miguel A. Cortajarena Altuna, Oihana Muga Zuriarrain, David Mora Navarro, María Teresa Domínguez, Ma Yolanda Ruiz del Prado, Inés Esteban Díez, María Teresa Palau Benavides, Santiago Lapeña, Teresa Prada, Eduard Soler Mir, Araceli Corredera Sánchez, Enrique Criado Vega, Náyade del Prado, Cristina Fernández, Lucía Cabanillas Vilaplana, Irene Cuadrado Pérez, Luisa López Gómez, Laura Domingo Comeche, Isabel Llana Martín, Carmen González Armengod, Carmen Muñoz Labián, Ma José Santos Muñoz, Dorotea Blanco Bravo, Vicente Pérez, Ma Dolores Elorza Fernández, Celia Díaz González, Susana Ares Segura, Manuela López Azorín, Ana Belén Jimenez, Tomás Sánchez-Tamayo, Elías Tapia Moreno, María González, José Enrique Sánchez Martínez, José María Lloreda García, Concepción Goñi Orayen, Javier Vilas González, María Suárez Albo, Eva González Colmenero, Elena Pilar Gutiérrez González, Beatriz Vacas del Arco, Josefina Márquez Fernández, Laura Acosta Gordillo, Mercedes Granero Asensio, Carmen Macías Díaz, Mar Albújar, Pedro Fuster Jorge, Sabina Romero, Mónica Rivero Falero, Ana Belén Escobar Izquierdo, Javier Estañ Capell, Ma Isabel Izquierdo Macián, Ma Mar Montejo Vicente, Raquel Izquierdo Caballero, Ma Mercedes Martínez, Aintzane Euba, Amaya Rodríguez Serna, Juan María López de Heredia Goya, Alberto Pérez Legorburu, Ana Gutiérrez Amorós, Víctor Manuel Marugán Isabel, Natalio Hernández González, Segundo Rite Gracia, Ma Purificación Ventura Faci, Ma Pilar Samper Villagrasa, Jiri Kofron, Katarina Strand Brodd, Andreas Odlind, Lars Alberg, Sofia Arwehed, Ola Hafström, Anna Kasemo, Karin Nederman, Lars Åhman, Fredrik Ingemarsson, Henrik Petersson, Pernilla Thurn, Eva Albinsson, Bo Selander, Thomas Abrahamsson, Ingela Heimdahl, Kristbjorg Sveinsdottir, Erik Wejryd, Anna Hedlund, Maria Katarina Söderberg, Lars Navér, Thomas Brune, Jens Bäckström, Johan Robinson, Aijaz Farooqi, Erik Normann, Magnus Fredriksson, Anders Palm, Urban Rosenqvist, Bengt Walde, Cecilia Hagman, Andreas Ohlin, Rein Florell, Agneta Smedsaas-Löfvenberg, Philipp Meyer, Rachel Kusche, Sven Schulzke, Mathias Nelle, Bendicht Wagner, Thomas Riedel, Grégoire Kaczala, Riccardo E. Pfister, Jean-François Tolsa, Matthias Roth, Martin Stocker, Bernhard Laubscher, Andreas Malzacher, John P. Micallef, Lukas Hegi, Romaine Arlettaz, Vera Bernet, Carlo Dani, Patrizio Fiorini, Paolo Ghirri, Barbara Tomasini, Anita Mittal, Jonathan Kefas, Anand Kamalanathan, Michael Grosdenier, Christopher Dewhurst, Andreea Bontea, Delyth Webb, Ross Garr, Ahmed Hassan, Priyadarshan Ambadkar, Mark Dyke, Katharine McDevitt, Glynis Rewitzky, Angela D'Amore, P. Kamath, Paul Settle, Natasha Maddock, Ngozi Edi-Osagie, Christos Zipitis, Carrie Heal, Jacqeline Birch, Abdul Hasib, Aung Soe, Bushra Abdul-Malik, Hamudi Kisat, Vimal Vasu, Savi Sivashankar, Richa Gupta, Chris Rawlingson, Tim Wickham, Marice Theron, Giles Kendall, Aashish Gupta, Narendra Aladangady, Imdad Ali, Neeraj Jain, Khalid Mannan, Vadivelam Murthy, Caroline Sullivan, Shu-Ling Chuang, Tristan Bate, Lidia Tyszcuzk, Geraint Lee, Ozioma Obi, John Chang, Vinay Pai, Charlotte Huddy, Salim Yasin, Richard Nicholl, Poornima Pandey, Jonathan Cusack, Venkatesh Kairamkonda, Dominic Muogbo, Liza Harry, Pinki Surana, Penny Broggio, Tilly Pillay, Sanjeev Deshpande, null Mahadevan, Alison Moore, Porus Bastani, Mehdi Garbash, Mithilesh Lal, Majd Abu-Harb, Alex Allwood, Michael Selter, Paul Munyard, David Bartle, Siba Paul, Graham Whincup, Sanghavi Rekha, Philip Amess, Ben Obi, Peter Reynolds, Indranil Misra, Peter De Halpert, Sanjay Salgia, Rekha Sanghavi, Nicola Paul, Abby Deketelaere, Minesh Khashu, Mark Johnson, Charlotte Groves, Jim Baird, Nick Brennan, Katia Vamvakiti, John McIntyre, Jennifer Holman, Stephen Jones, Alison Pike, Pamela Cairns, Megan Eaton, Karin Schwarz, David Gibson, Lawrence Miall, Dr Krishnamurthy, and Sankara Narayanan

Subjects
Male, medicine.medical_specialty, Birth weight, Standard score, Care provision, 03 medical and health sciences, 0302 clinical medicine, Sex Factors, Pregnancy, 030225 pediatrics, Intensive Care Units, Neonatal, Infant Mortality, Medicine, Humans, 030212 general & internal medicine, International network, business.industry, Obstetrics, Extremely preterm, Infant, Newborn, Gestational age, Infant, Length of Stay, medicine.disease, Infant mortality, Infant, Extremely Premature, Pediatrics, Perinatology and Child Health, Linear Models, Female, Pregnancy, Multiple, business
Abstract

Objective To compare length of stay (LOS) in neonatal care for babies born extremely preterm admitted to networks participating in the International Network for Evaluating Outcomes of Neonates (iNeo). Study design Data were extracted for babies admitted from 2014 to 2016 and born at 24 to 28 weeks of gestational age (n = 28 204). Median LOS was calculated for each network for babies who survived and those who died while in neonatal care. A linear regression model was used to investigate differences in LOS between networks after adjusting for gestational age, birth weight z score, sex, and multiplicity. A sensitivity analysis was conducted for babies who were discharged home directly. Results Observed median LOS for babies who survived was longest in Japan (107 days); this result persisted after adjustment (20.7 days more than reference, 95% CI 19.3-22.1). Finland had the shortest adjusted LOS (−4.8 days less than reference, 95% CI –7.3 to −2.3). For each week's increase in gestational age at birth, LOS decreased by 12.1 days (95% CI –12.3 to −11.9). Multiplicity and male sex predicted mean increases in LOS of 2.6 (95% CI 2.0-3.2) and 2.1 (95% CI 1.6-2.6) days, respectively. Conclusions We identified between-network differences in LOS of up to 3 weeks for babies born extremely preterm. Some of these may be partly explained by differences in mortality, but unexplained variations also may be related to differences in clinical care practices and healthcare systems between countries.

Published
2020

7. Neonatal Outcomes in Very Preterm Infants With Severe Congenital Heart Defects : An International Cohort Study

Author

Mikael Norman, Stellan Håkansson, Satoshi Kusuda, Maximo Vento, Liisa Lehtonen, Brian Reichman, Brian A. Darlow, Mark Adams, Dirk Bassler, Tetsuya Isayama, Franca Rusconi, Shoo Lee, Kei Lui, Junmin Yang, Prakesh S. Shah, Peter Marshall, Peter Schmidt, Anjali Dhawan, Paul Craven, Koert de Waal, Karen Simmer, Andy Gill, Jane Pillow, Jacqueline Stack, Pita Birch, Lucy Cooke, Dan Casalaz, Jim Holberton, Alice Stewart, Lyn Downe, Michael Stewart, Barbara Bajuk, Andrew Berry, Rod Hunt, Charles Kilburn, Tony De Paoli, Srinivas Bolisetty, Mary Paradisis, Ingrid Rieger, Pieter Koorts, Carl Kuschel, Lex Doyle, Andrew Numa, Hazel Carlisle, Nadia Badawi, Alison Loughran‐Fowlds, Guan Koh, Jonathan Davis, Melissa Luig, Chad Andersen, Georgina Chambers, Nicola Austin, Adrienne Lynn, Brian Darlow, Liza Edmonds, Lindsay Mildenhall, Mariam Buksh, Malcolm Battin, Jutta van den Boom, David Bourchier, Vaughan Richardson, Fiona Dineen, Victor Samuel Rajadurai, Simon Lam, Genevieve Fung, Adele Harrison, Anne Synnes, Joseph Ting, Zenon Cieslak, Rebecca Sherlock, Wendy Yee, Khalid Aziz, Jennifer Toye, Carlos Fajardo, Zarin Kalapesi, Koravangattu Sankaran, Sibasis Daspal, Mary Seshia, Ruben Alvaro, Amit Mukerji, Orlando Da Silva, Chuks Nwaesei, Kyong‐Soon Lee, Michael Dunn, Brigitte Lemyre, Kimberly Dow, Ermelinda Pelausa, Keith Barrington, Christine Drolet, Bruno Piedboeuf, Martine Claveau, Marc Beltempo, Valerie Bertelle, Edith Masse, Roderick Canning, Hala Makary, Cecil Ojah, Luis Monterrosa, Akhil Deshpandey, Jehier Afifi, Andrzej Kajetanowicz, Shoo K. Lee, Sture Andersson, Outi Tammela, Ulla Sankilampi, Timo Saarela, Eli Heymann, Shmuel Zangen, Tatyana Smolkin, Francis Mimouni, David Bader, Avi Rothschild, Zipora Strauss, Clari Felszer, Hussam Omari, Smadar Even Tov‐Friedman, Benjamin Bar‐Oz, Michael Feldman, Nizar Saad, Orna Flidel‐Rimon, Meir Weisbrod, Daniel Lubin, Ita Litmanovitz, Amir Kugelman, Eric Shinwell, Gil Klinger, Yousif Nijim, Alona Bin‐Nun, Agneta Golan, Dror Mandel, Vered Fleisher‐Sheffer, David Kohelet, Lev Bakhrakh, Satoshi Hattori, Masaru Shirai, Toru Ishioka, Toshihiko Mori, Takasuke Amizuka, Toru Huchimukai, Hiroshi Yoshida, Ayako Sasaki, Junichi Shimizu, Toshihiko Nakamura, Mami Maruyama, Hiroshi Matsumoto, Shinichi Hosokawa, Atsuko Taki, Machiko Nakagawa, Kyone Ko, Azusa Uozumi, Setsuko Nakata, Akira Shimazaki, Tatsuya Yoda, Osamu Numata, Hiroaki Imamura, Azusa Kobayashi, Shuko Tokuriki, Yasushi Uchida, Takahiro Arai, Mitsuhiro Ito, Kuniko Ieda, Toshiyuki Ono, Masashi Hayashi, Kanemasa Maki, MieToru Yamakawa, Masahiko Kawai, Noriko Fujii, Kozue Shiomi, Koji Nozaki, Hiroshi Wada, Taho Kim, Yasuyuki Tokunaga, Akihiro Takatera, Toshio Oshima, Hiroshi Sumida, Yae Michinomae, Yoshio Kusumoto, Seiji Yoshimoto, Takeshi Morisawa, Tamaki Ohashi, Yukihiro Takahashi, Moriharu Sugimoto, Noriaki Ono, Shinichiro Miyagawa, Takahiko Saijo, Takashi Yamagami, Kosuke Koyano, Shoko Kobayashi, Takeshi Kanda, Yoshihiro Sakemi, Mikio Aoki, Koichi Iida, Mitsushi Goshi, Yuko Maruyama, Alejandro Avila‐Alvarez, José Luis Fernandez‐Trisac, Mª Luz Couce Pico, María José Fernández Seara, Andrés Martínez Gutiérrez, Carolina Vizcaíno, Miriam Salvador Iglesias, Honorio Sánchez Zaplana, Belén Fernández Colomer, José Enrique García López, Rafael García Mozo, M. Teresa González Martínez, Mª Dolores Muro Sebastián, Marta Balart Carbonell, Joan Badia Barnusell, Mònica Domingo Puiggròs, Corporacio Parc Taulí, Josep Figueras Aloy, Francesc Botet Mussons, Israel Anquela Sanz, Gemma Ginovart Galiana, H. De La Santa, W. Coroleu, Martin Iriondo, Laura Castells Vilella, Roser Porta, Xavier Demestre, Silvia Martínez Nadal, Cristina de Frutos Martínez, María Jesús López Cuesta, Dolores Esquivel Mora, Joaquín Ortiz Tardío, Isabel Benavente, Almudena Alonso, Ramón Aguilera Olmos, Miguel A. García Cabezas, Mª Dolores Martínez Jiménez, Mª Pilar Jaraba Caballero, Mª Dolores Ordoñez Díaz, Alberto Trujillo Fagundo, Lluis Mayol Canals, Fermín García‐Muñoz Rodrigo, Lourdes Urquía Martí, María Fernanda Moreno Galdo, José Antonio Hurtado Suazo, Eduardo Narbona López, José Uberos Fernández, Miguel A. Cortajarena Altuna, Oihana Muga Zuriarrain, David Mora Navarro, María Teresa Domínguez, Mª Yolanda Ruiz del Prado, Inés Esteban Díez, María Teresa Palau Benavides, Santiago Lapeña, Teresa Prada, Eduard Soler Mir, Araceli Corredera Sánchez, Enrique Criado Vega, Náyade del Prado, Cristina Fernández, Lucía Cabanillas Vilaplana, Irene Cuadrado Pérez, Luisa López Gómez, Laura Domingo Comeche, Isabel Llana Martín, Carmen González Armengod, Carmen Muñoz Labián, Mª José Santos Muñoz, Dorotea Blanco Bravo, Vicente Pérez, Mª Dolores Elorza Fernández, Celia Díaz González, Susana Ares Segura, Manuela López Azorín, Ana Belén Jimenez MD, Tomás Sánchez‐Tamayo, Elías Tapia Moreno, María González, José Enrique Sánchez Martínez, José María Lloreda García, Concepción Goñi Orayen, Javier Vilas González, María Suárez Albo, Eva González Colmenero, Elena Pilar Gutiérrez González, Beatriz Vacas del Arco, Josefina Márquez Fernández, Laura Acosta Gordillo, Mercedes Granero Asensio, Carmen Macías Díaz, Mar Albújar, Pedro Fuster Jorge, Sabina Romero, Mónica Rivero Falero, Ana Belén Escobar Izquierdo, Javier Estañ Capell, Mª Isabel Izquierdo Macián, Mª Mar Montejo Vicente, Raquel Izquierdo Caballero, Mª Mercedes Martínez, Aintzane Euba, Amaya Rodríguez Serna, Juan María López de Heredia Goya, Alberto Pérez Legorburu, Ana Gutiérrez Amorós, Víctor Manuel Marugán Isabel, Natalio Hernández González, Segundo Rite Gracia, Mª Purificación Ventura Faci, Mª Pilar Samper Villagrasa, Jiri Kofron, Katarina Strand Brodd, Andreas Odlind, Lars Alberg, Sofia Arwehed, Ola Hafström, Anna Kasemo, Karin Nederman, Lars Åhman, Fredrik Ingemarsson, Henrik Petersson, Pernilla Thurn, Eva Albinsson, Bo Selander, Thomas Abrahamsson, Ingela Heimdahl, Kristbjorg Sveinsdottir, Erik Wejryd, Anna Hedlund, Maria Katarina Söderberg, Lars Navér, Thomas Brune, Jens Bäckström, Johan Robinson, Aijaz Farooqi, Erik Normann, Magnus Fredriksson, Anders Palm, Urban Rosenqvist, Bengt Walde, Cecilia Hagman, Andreas Ohlin, Rein Florell, Agneta Smedsaas‐Löfvenberg, Philipp Meyer, Rachel Kusche, Sven Schulzke, Mathias Nelle, Bendicht Wagner, Thomas Riedel, Grégoire Kaczala, Riccardo E. Pfister, Jean‐François Tolsa, Matthias Roth, Martin Stocker, Bernhard Laubscher, Andreas Malzacher, John P. Micallef, Lukas Hegi, Romaine Arlettaz, Vera Bernet, Carlo Dani, Patrizio Fiorini, Paolo Ghirri, Barbara Tomasini, Tampere University, Department of Paediatrics, and Clinical Medicine

Subjects
Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Epidemiology, Birth weight, Gestational Age, Infant, Premature, Diseases, 030204 cardiovascular system & hematology, 3121 Internal medicine, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Developmental biology, Infant Mortality, cardiac malformation, Medicine, Humans, Hospital Mortality, Original Research, business.industry, Mortality rate, Congenital Heart Disease, Infant, Newborn, Gestational age, Pediatrik, preterm birth, Infant, Retinopathy of prematurity, Odds ratio, medicine.disease, mortality, Bronchopulmonary dysplasia, newborn infant, Infant, Extremely Premature, Necrotizing enterocolitis, Female, Mortality/Survival, Cardiology and Cardiovascular Medicine, business, Cohort study
Abstract

Background Very preterm infants are at high risk of death or severe morbidity. The objective was to determine the significance of severe congenital heart defects ( CHDs ) for these risks. Methods and Results This cohort study included infants from 10 countries born from 2007–2015 at 24 to 31 weeks’ gestation with birth weights CHDs were defined by International Classification of Diseases, Ninth Revision ( ICD‐9 ) and Tenth ( ICD‐10 ) codes and categorized as those compromising systemic output, causing sustained cyanosis, or resulting in congestive heart failure. The primary outcome was in‐hospital mortality. Secondary outcomes were neonatal brain injury, necrotizing enterocolitis, bronchopulmonary dysplasia, and retinopathy of prematurity. Adjusted and propensity score–matched odds ratios ( ORs ) were calculated. Analyses were stratified by type of CHD , gestational age, and network. A total of 609 (0.77%) infants had severe CHD and 76 371 without any malformation served as controls. The mean gestational age and birth weight were 27.8 weeks and 1018 g, respectively. The mortality rate was 18.6% in infants with CHD and 8.9% in controls (propensity score–matched OR , 2.30; 95% CI , 1.61–3.27). Severe CHD was not associated with neonatal brain injury, necrotizing enterocolitis, or retinopathy of prematurity, whereas the OR for bronchopulmonary dysplasia increased. Mortality was higher in all types, with the highest propensity score–matched OR (4.96; 95% CI, 2.11–11.7) for CHD causing congestive heart failure. While mortality did not differ between groups at OR for mortality in infants with CHD increased to 10.9 (95% CI, 5.76–20.70) at 31 weeks’ gestational age. Rates of CHD and mortality differed significantly between networks. Conclusions Severe CHD is associated with significantly increased mortality in very preterm infants.

Published
2020

8. Impacts of surgical interventions on the long-term outcomes in individuals with trisomy 18

Author

Chie Yokota, Junya Ohmura, Chiaki Iida, Tetsuro Kamimura, Jun Muneuchi, Yasuhiko Takahashi, Yoshihiro Sakemi, Junko Yamamoto, Yoshie Ochiai, Mamie Watanabe, Yuichiro Sugitani, Daisuke Shimizu, Naoko Matsumoto, Shunsuke Araki, and Kenichiro Yamaguchi

Subjects
medicine.medical_specialty, Birth weight, Gestational Age, 03 medical and health sciences, 0302 clinical medicine, Median follow-up, Pregnancy, 030225 pediatrics, Internal medicine, Digestive disorder, Medicine, Birth Weight, Humans, Survival rate, Retrospective Studies, business.industry, Hazard ratio, Infant, Newborn, Gestational age, General Medicine, medicine.disease, 030220 oncology & carcinogenesis, Case-Control Studies, Pediatrics, Perinatology and Child Health, Cohort, Surgery, Female, business, Trisomy, Trisomy 18 Syndrome
Abstract

Objective We aim to clarify whether surgical interventions can contribute to improve the long-term outcomes among individuals with trisomy 18. Methods We retrospectively studied 69 individuals with trisomy 18 admitted to 4 tertiary neonatal centers between 2003 and 2017. A cohort was divided into two groups: subjects with surgical interventions and conservative treatments. We compared the rates of survival and achieving homecare between the groups. Results Gestational age and birth weight were 37 (27-43) week's and 1,700 (822-2,546) g, respectively. There were 68 patients with congenital heart disease and 20 patients with digestive disease. Surgical interventions including cardiac and digestive surgery were provided in 41% of individuals. There was no difference in gestational age (P = 0.30), birth weight (P = 0.07), gender (P = 0.30), and fetal diagnosis (P = 0.87) between the groups. During the median follow up duration of 51 (2-178) months, overall survival rates in 6, 12 and 60 months were 57%, 43% and 12%, respectively. Survival to hospital discharge occurred in 23 patients, and the rates of achieving homecare in 1, 6, and 12 months are 1%, 18% and 30%, respectively. There was no significant difference in survival rate (P = 0.26) but in the rate of achieving home care (P = 0.02) between the groups. Cox hazard analysis revealed that prenatal diagnosis (hazard ratio 0.30, 95%CI: 0.13-0.75), cardiac surgery (hazard ratio 2.40, 95%CI:,1.03-5.55), and digestive surgery (hazard ratio 1.20, 95%CI: 1.25-3.90) were related to the rate of achieving homecare. Conclusion Aggressive surgical interventions contribute not to the long-term survival but to achieve homecare among individuals with trisomy 18. Evidence Level Level 3 (Prognostic study, Case-Control study)

Published
2019

9. Trends in Bronchopulmonary Dysplasia Among Extremely Preterm Infants in Japan, 2003-2016

Author

Toshinori Nakashima, Masayuki Ochiai, Shouichi Ohga, Yoshihiro Sakemi, Hironori Yamashita, and Hirosuke Inoue

Subjects
Male, Pediatrics, medicine.medical_specialty, Time Factors, Supplemental oxygen, Birth weight, 03 medical and health sciences, 0302 clinical medicine, Japan, Risk Factors, 030225 pediatrics, mental disorders, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Bronchopulmonary Dysplasia, business.industry, Mortality rate, Extremely preterm, Infant, Newborn, Postmenstrual Age, medicine.disease, Bronchopulmonary dysplasia, Infant, Extremely Premature, Pediatrics, Perinatology and Child Health, Breathing, Gestation, Female, business
Abstract

To investigate recent trends in bronchopulmonary dysplasia (BPD) and its risk factors among extremely preterm infants.Demographic and clinical data were reviewed for 19 370 infants born at 22-27 weeks of gestation registered in the affiliated hospitals of the Neonatal Research Network of Japan between 2003 and 2016. We investigated the overall survival and prevalence of bronchopulmonary dysplasia (BPD) at 36 weeks' postmenstrual age and risk factors for developing BPD among the survivors.Among 19 370 infants, 2244 (11.6%) died by 36 weeks' postmenstrual age. The mortality rate decreased from 19.0% (99% CI, 15.7%-22.8%) in 2003 to 8.0% (99% CI, 6.2%-10.3%) in 2016. Among 17 126 survivors, BPD developed in 7792 (45.5%) infants, and its proportion significantly increased from 41.4% (99% CI, 36.5%-46.4%) in 2003 to 52.0% (99% CI, 48.2%-55.9%) in 2016. A multivariable analysis of the survivors showed a positive association of BPD with ≥4 weeks' supplemental oxygen or invasive ventilation, birth weight750 g, small for gestational age, ≥4 weeks' noninvasive positive pressure ventilation, chorioamnionitis,26 weeks' gestational age,20 cases per year of center patient volume, or treated patent ductus arteriosus. Although the median duration of invasive ventilation was shortened, the proportions of factors associated adversely with BPD generally showed increasing trends over time.The mortality rate of extremely preterm infants has decreased, but the rate of BPD has increased in survivors between 2003 and 2016. Despite the decreasing duration of invasive ventilation over time, increasing rates of BPD suggest that differences in the patient population or other management strategies influence the development of BPD.

Published
2021
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10. Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.

Author

Kazuki Yamazawa, Takanobu Inoue, Yoshihiro Sakemi, Toshinori Nakashima, Hironori Yamashita, Kaduki Khono, Hideki Fujita, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Moeko Nakashima, Tatsuo Matsunaga, Akie Nakamura, Keiko Matsubara, Tsutomu Ogata, and Masayo Kagami

Abstract

Background ZNF597, encoding a zinc-finger protein, is the human-specific maternally expressed imprinted gene located on 16p13.3. The parent-of-origin expression of ZNF597 is regulated by the ZNF597:TSS-DMR, of which only the paternal allele acquires methylation during postimplantation period. Overexpression of ZNF597 may contribute to some of the phenotypes associated with maternal uniparental disomy of chromosome 16 (UPD(16)mat), and some patients with UPD(16)mat presenting with Silver-Russell syndrome (SRS) phenotype have recently been reported. Methods A 6-year-old boy presented with prenatal growth restriction, macrocephaly at birth, forehead protrusion in infancy and clinodactyly of the fifth finger. Methylation, expression, microsatellite marker, single nucleotide polymorphism array and trio whole-exome sequencing analyses were conducted. Results Isolated hypomethylation of the ZNF597:TSS-DMR and subsequent loss of imprinting and overexpression of ZNF597 were confirmed in the patient. Epigenetic alterations, such as UPD including UPD(16) mat and other methylation defects, were excluded. Pathogenic sequence or copy number variants affecting his phenotypes were not identified, indicating that primary epimutation occurred postzygotically. Conclusion We report the first case of isolated ZNF597 imprinting defect, showing phenotypic overlap with SRS despite not satisfying the clinical SRS criteria. A novel imprinting disorder entity involving the ZNF597 imprinted domain can be speculated. [ABSTRACT FROM AUTHOR]

Published
2021
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13. Increased incidence of retroperitoneal teratomas and decreased incidence of sacrococcygeal teratomas in infants with Down syndrome

Author

Tetsuko Kobayashi, Hironori Yamashita, and Yoshihiro Sakemi

Subjects
Gynecology, endocrine system, Down syndrome, medicine.medical_specialty, education.field_of_study, endocrine system diseases, business.industry, Incidence (epidemiology), Population, Hematology, urologic and male genital diseases, medicine.disease, female genital diseases and pregnancy complications, Lower incidence, Oncology, Pediatrics, Perinatology and Child Health, Medicine, Teratoma, business, education, Sacrococcygeal teratoma, neoplasms
Abstract

Individuals with Down syndrome (DS) have a unique profile of neoplasms, with a higher incidence of leukemias and a lower incidence of solid tumors than seen in the general population. We recently encountered two cases of infants with DS with retroperitoneal teratoma. After reviewing the literature on teratomas in DS, we found that the incidence of retroperitoneal teratomas was higher and the incidence of sacrococcygeal teratomas was lower in infants with DS than in the general population.

Published
2013
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14. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly

Author

Shinya Matsuura, Yoshiyuki Matsumoto, Hirofumi Ohashi, Azuma Hiramoto, Yoshihiro Sakemi, Hiromi Sakamoto, Tomoo Ogi, Toshihide Shiiki, Hidetoshi Tahara, Hideki Izumi, Tatsuo Miyamoto, Yoshiki Fujisawa, Shozo Oku, and Yuka Nakazawa

Subjects
Silent mutation, Adult, G2 Phase, Male, Microcephaly, Adolescent, Cerebellar Ataxia, Apraxias, DNA Mutational Analysis, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, Compound heterozygosity, Biochemistry, Radiation Tolerance, Ataxia Telangiectasia, Pregnancy, medicine, Missense mutation, Humans, Nijmegen Breakage Syndrome, Molecular Biology, Genetics, Mutation, MRE11 Homologue Protein, Base Sequence, Caspase 3, Tumor Suppressor Proteins, Infant, Cell Biology, medicine.disease, DNA-Binding Proteins, Enzyme Activation, Rad50, Child, Preschool, Ataxia-telangiectasia, Female, Tumor Suppressor Protein p53, Nijmegen breakage syndrome, Cell Division, Hypoalbuminemia
Abstract

MRE11 and NBS1 function together as components of a MRE11/RAD50/NBS1 protein complex, however deficiency of either protein does not result in the same clinical features. Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and mental retardation, and cellular radiosensitivity. Additionally, mutations in the MRE11A gene are known to lead to an ataxia-telangiectasia-like disorder (ATLD), a late-onset, slowly progressive variant of ataxia-telangiectasia without microcephaly. Here we describe two unrelated patients with NBS-like severe microcephaly (head circumference -10.2 SD and -12.8 SD) and mutations in the MRE11A gene. Both patients were compound heterozygotes for a truncating or missense mutation and carried a translationally silent mutation. The truncating and missense mutations were assumed to be functionally debilitating. The translationally silent mutation common to both patients had an effect on splicing efficiency resulting in reduced but normal MRE11 protein. Their levels of radiation-induced activation of ATM were higher than those in ATLD cells.

Published
2010

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