A review of literature concerning safety in midwife-managed delivery units systems in Japan

院内助産システムの安全性を探ることを目的とし、医学中央雑誌を用いて、「院内助産システム」また、「院内助産」、「助産師外来」「バースセンター」のキーワードで国内文献を検索した。ヒットした 8３1 件のうち、２01２ 年から 5 年間に絞り ２61 件、さらに原著論文に限定して85 件が抽出された。そのうち、運用基準、医師への移行(医療介入 )率の記載、分娩アウトカム指標の記述がある文献 11 件を分析対象とした。　助産師外来の記載があった文献は 5 件、院内助産は 10 件、助産師外来と院内助産の記載があった文献は 4 件であった。　助産師外来から非助産師外来への移行率は 4.0 〜 8.8% であり、非助産師外来のローリスクからハイリスク移行率 9.0% に比較して低率であった。また、院内助産における医師の医療介入率は9.6〜44.4％で、非院内助産における医療介入率41〜46.6%より低率であった。分娩アウトカムは児の体重と臍帯血 pH、会陰裂傷においては非院内助産と有意差がなかった。　院内助産システムの運用基準は、産婦人科診療ガイドラインを基本に、各施設で独自に選定対象基準を記載しており、助産師外来は、妊娠初期から中期まで医師が担当する協働の実態があった。助産師外来と院内助産の安全性が示唆される一方で、分娩の施設間で運用基準が異なるため、系統的なメタ分析を妨げているという課題が見えた。以上から院内助産システムの運用に関するガイドラインの検討と院内システムの標準化を進展することが早急の課題と考える。This study was performed to verify the safety of midwife-managed delivery units in Japan based on a review of the domestic literature.　We conducted a literature review using the Ichushi-Web (Japan Medical Abstracts Society) and searched the domestic literature with the keywords “midwife-managed delivery units system,” “midwife-managed delivery units,” “midwife-led examinations,” and “birth center.” A total of 8３1 articles were identified, of which ２61 papers were published between ２01２ and ２016, from which 85 were extracted as original articles. Eleven transcripts were analyzed by extracting the transfer rate from midwife-led examinations to obstetrician-led examinations, obstetric intervention of midwife-managed delivery units, neonatal and physiological outcomes, and safety.　There were five studies with descriptions of midwife-led examinations, ten studies with descriptions of midwife-managed delivery units, and four describing both systems. The rate of transfer to obstetrician-led examinations was 4.0% – 8.8%, which was low compared to the high-risk transition rate of 9.0% for obstetric outpatients. The obstetric intervention rate in midwife-managed delivery units was 9.6% – 44.4%, which was lower than the obstetric intervention rate of 41% – 46.6% in deliveries managed by physicians. The neonatal and physiological outcomes were not significantly different according to the weight of the child, umbilical cord arterial blood pH, or perineal lacerations in the physician control group.　The operation criteria of midwife-led examinations and midwife-managed delivery units are based on the Obstetrics and Gynecology Clinical Practice Guidelines, and many facilities have established their own criteria. 　In outpatient midwifery clinics, the doctor was in charge from early pregnancy to mid-term.　This study suggested that midwife-led examinations and midwife-managed delivery units have good levels of safety. On the other hand, there were differences in operation standards among the facilities, which prevented more reliable meta-analysis of midwife-managed delivery units.　To further disseminate midwife-managed delivery units, it is necessary to evaluate not only the outcome items but also operational criteria, and establish standards according to the environment, facilities, and personnel of each facility

Progressive Purkinje Cell Degeneration in tambaleante Mutant Mice Is a Consequence of a Missense Mutation in HERC1 E3 Ubiquitin Ligase

The HERC gene family encodes proteins with two characteristic domains: HECT and RCC1-like. Proteins with HECT domains have been described to function as ubiquitin ligases, and those that contain RCC1-like domains have been reported to function as GTPases regulators. These two activities are essential in a number of important cellular processes such as cell cycle, cell signaling, and membrane trafficking. Mutations affecting these domains have been found associated with retinitis pigmentosa, amyotrophic lateral sclerosis, and cancer. In humans, six HERC genes have been reported which encode two subgroups of HERC proteins: large (HERC1-2) and small (HERC3-6). The giant HERC1 protein was the first to be identified. It has been involved in membrane trafficking and cell proliferation/growth through its interactions with clathrin, M2-pyruvate kinase, and TSC2 proteins. Mutations affecting other members of the HERC family have been found to be associated with sterility and growth retardation. Here, we report the characterization of a recessive mutation named tambaleante, which causes progressive Purkinje cell degeneration leading to severe ataxia with reduced growth and lifespan in homozygous mice aged over two months. We mapped this mutation in mouse chromosome 9 and then performed positional cloning. We found a G⇔A transition at position 1448, causing a Gly to Glu substitution (Gly483Glu) in the highly conserved N-terminal RCC1-like domain of the HERC1 protein. Successful transgenic rescue, with either a mouse BAC containing the normal copy of Herc1 or with the human HERC1 cDNA, validated our findings. Histological and biochemical studies revealed extensive autophagy associated with an increase of the mutant protein level and a decrease of mTOR activity. Our observations concerning this first mutation in the Herc1 gene contribute to the functional annotation of the encoded E3 ubiquitin ligase and underline the crucial and unexpected role of this protein in Purkinje cell physiology

A set of highly informative rat simple sequence length polymorphism (SSLP) markers and genetically defined rat strains.

[Background]The National Bio Resource Project for the Rat in Japan (NBRP-Rat) is focusing on collecting, preserving and distributing various rat strains, including spontaneous mutant, transgenic, congenic, and recombinant inbred (RI) strains. To evaluate their value as models of human diseases, we are characterizing them using 109 phenotypic parameters, such as clinical measurements, internal anatomy, metabolic parameters, and behavioral tests, as part of the Rat Phenome Project. Here, we report on a set of 357 simple sequence length polymorphism (SSLP) markers and 122 rat strains, which were genotyped by the marker set. [Results]The SSLP markers were selected according to their distribution patterns throughout the whole rat genome with an average spacing of 7.59 Mb. The average number of informative markers between all possible pairs of strains was 259 (72.5% of 357 markers), showing their high degree of polymorphism. From the genetic profile of these rat inbred strains, we constructed a rat family tree to clarify their genetic background. [Conclusion]These highly informative SSLP markers as well as genetically and phenotypically defined rat strains are useful for designing experiments for quantitative trait loci (QTL) analysis and to choose strategies for developing new genetic resources. The data and resources are freely available at the NBRP-Rat web site [1]

A set of highly informative rat simple sequence length polymorphism (SSLP) markers and genetically defined rat strains

Abstract Background The National Bio Resource Project for the Rat in Japan (NBRP-Rat) is focusing on collecting, preserving and distributing various rat strains, including spontaneous mutant, transgenic, congenic, and recombinant inbred (RI) strains. To evaluate their value as models of human diseases, we are characterizing them using 109 phenotypic parameters, such as clinical measurements, internal anatomy, metabolic parameters, and behavioral tests, as part of the Rat Phenome Project. Here, we report on a set of 357 simple sequence length polymorphism (SSLP) markers and 122 rat strains, which were genotyped by the marker set. Results The SSLP markers were selected according to their distribution patterns throughout the whole rat genome with an average spacing of 7.59 Mb. The average number of informative markers between all possible pairs of strains was 259 (72.5% of 357 markers), showing their high degree of polymorphism. From the genetic profile of these rat inbred strains, we constructed a rat family tree to clarify their genetic background. Conclusion These highly informative SSLP markers as well as genetically and phenotypically defined rat strains are useful for designing experiments for quantitative trait loci (QTL) analysis and to choose strategies for developing new genetic resources. The data and resources are freely available at the NBRP-Rat web site 1.</p

Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat

Congenital vertebral malformations caused by embryonic segmentation defects are relatively common in humans and domestic animals. Although reverse genetics approaches in mice have provided information on the molecular mechanisms of embryonic somite segmentation, hypothesis-driven approaches cannot adequately reflect human dysmorphology within the population. In a N-ethyl-N-nitrosourea (ENU) mutagenesis project in Kyoto, the Oune mutant rat strain was isolated due to a short and kinked caudal vertebra phenotype. Skeletal staining of heterozygous rats showed partial loss of the cervical vertebrae as well as hemivertebrae and fused vertebral blocks in lumbar and sacral vertebrae. In homozygous embryos, severe displacement of the whole vertebrae was observed. The Oune locus was genetically mapped to rat chromosome 1 using 202 backcross animals and 50 genome-wide microsatellite markers. Subsequently, a miss-sense mutation in the Tbx6 gene was identified in the critical region. Although the mutation is located within the T-box domain near a predicted dimmer-interface, in vitro experiments revealed that the Tbx6 variant retains normal DNA binding ability and translational efficiency. However, the variant has decreased transcriptional activation potential in response to Notch-mediated signaling. Recently, it was reported that a dominant type of familial spondylocostal dysostosis is caused by a stoploss mutation in TBX6. Thus, we propose that partial dysfunction of Tbx6 leads to similar congenital vertebral malformations in both humans and rats. The Oune strain could be a unique animal model for dominant spondylocostal dysostosis and is useful for molecular dissection of the pathology of congenital vertebral malformations in humans

Halka kitap okutmak bahsi etrafında

Taha Toros Arşivi, Dosya No: 111-Kütüphanelerİstanbul Kalkınma Ajansı (TR10/14/YEN/0033) İstanbul Development Agency (TR10/14/YEN/0033