Article
Genetics & Heredity
Yu Teranishi, Satoru Miyawaki, Hiroki Hongo, Shogo Dofuku, Atsushi Okano, Shunsaku Takayanagi, Takahiro Ota, Jun Yoshimura, Wei Qu, Jun Mitsui, Hirofumi Nakatomi, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito
Summary: Improved diagnostic rate of mosaic NF2 was achieved by targeted deep sequencing of DNA from multiple tissues. Patients with mosaic NF2 showed significant differences in phenotype compared to those with NF2 germline variant, particularly in tumor growth rate and hearing outcome. Schwannoma behavior correlated with the extent of VAF in normal tissues carrying NF2 variant, unlike meningioma.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Emergency Medicine
Zekiye Soykan Sert, Ekrem Taha Sert, Kamil Kokulu
Summary: This study identified risk factors predicting post-traumatic obstetric complications in pregnant women who presented to the emergency department with traumatic injuries, including advanced maternal age, trauma in the third trimester, and abnormal obstetric ultrasonography findings. These factors should alert physicians to the possibility of post-traumatic complications and the need for close monitoring within the first 24 hours after trauma.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2021)
Article
Health Care Sciences & Services
Vivek Sriram, Yonghyun Nam, Manu Shivakumar, Anurag Verma, Sang-Hyuk Jung, Seung Mi Lee, Dokyoon Kim
Summary: This study utilized UKBB data to construct disease networks centered around pregnancy-related disorders, translated network connections into pathologic knowledge using semi-supervised learning, and successfully predicted complication risks for different phenotypes.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Hematology
M. Gerde, E. Ibarra, R. Mac Kenzie, C. Fernandez Suarez, C. Heer, R. Alvarez, M. Iglesias, J. Balparda, E. Beruti, F. Rubinstein
Summary: Adding hydroxychloroquine to classical treatments in patients with refractory primary obstetric APS can increase the rate of live births and reduce the prevalence of pregnancy complications.
THROMBOSIS RESEARCH
(2021)
Article
Surgery
Erika L. Rangel, Manuel Castillo-Angeles, Yue-Yung Hu, Ankush Gosain, Sarah Rae Easter, Zara Cooper, Rachel B. Atkinson, Eugene S. Kim
Summary: Lack of workplace support for reduction in clinical duties is associated with adverse obstetric outcomes for surgeons.
Review
Medicine, General & Internal
Konstantina Rosiou, Christian P. Selinger
Summary: Crohn's disease can affect fertility in women, and there are concerns about the impact of pregnancy on the disease and the potential effects of medication on the fetus. International guidelines provide evidence-based advice on reproduction for women with Crohn's disease. This review article focuses on obstetric considerations beyond medication safety and covers factors such as fertility, pregnancy outcomes, complications, mode of delivery, intestinal stoma management, and breastfeeding.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Psychology, Developmental
Sandra Gomez-Vallejo, Marguerite Leoni, Angelica Ronald, Emma Colvert, Francesca Happe, Patrick Bolton
Summary: This study found that children with ASD and their unaffected twins exhibit more obstetric complications than controls. However, these complications do not differentiate between ASD twins and their unaffected co-twins. Additionally, the meta-analysis indicated a minimal impact of birth factors on ASD, suggesting a shared familial liability for both obstetric complications and autism, rather than a causal relationship.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Article
Genetics & Heredity
Yanbin Fan, Dandan Tan, Danyu Song, Xu Zhang, Xingzhi Chang, Zhaoxia Wang, Cheng Zhang, Sophelia Hoi-Shan Chan, Qixi Wu, Liwen Wu, Shuang Wang, Hui Yan, Lin Ge, Haipo Yang, Bing Mao, Carsten Boennemann, Jingying Liu, Suxia Wang, Yun Yuan, Xiru Wu, Hong Zhang, Hui Xiong
Summary: The study aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNA mutations in order to establish genotype-phenotype correlation. Eighty-four patients were identified with LMNA mutations, including 41 with L-CMD, 32 with EDMD, and 11 with LGMD1B. A correlation between mutation location and clinical phenotype was observed, with two frequent mutations identified. Preliminary data suggested potential efficacy of low-dose corticosteroid treatment.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Cristiane Beninca, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S. F. Santos, Ricardo Lehtonen R. de Souza, Erika Fernandez-Vizarra, Alexander J. Whitworth, Massimo Zeviani
Summary: The pathogenic mutation in APOO was found to cause altered MIC26, affecting MICOS assembly and mitochondrial structure and function, leading to neuromuscular impairment. MIC26 is involved in the assembly or stability of MICOS in humans, yeast, and flies.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Medicine, General & Internal
Rodrigo Orozco, Jose Carlos Vilches, Ignacio Brunel, Manuel Lozano, Gema Hernandez, David Perez-Del Rey, Laura Meloni, Juan Luis Alcazar
Summary: This study aimed to demonstrate the presence of obstetric complications in patients with uterine adenomyosis and emphasize the need for follow-up in high-risk obstetric units. Data was obtained from TriNetX, LLC between 2010 and 2020. The results showed that pregnant patients with adenomyosis were more likely to experience complications such as intrauterine growth restriction, preterm delivery, cesarean delivery, hypertension, placental abruption, and spontaneous abortion. Therefore, it is recommended to manage patients with adenomyosis in high-risk obstetric units.
Article
Multidisciplinary Sciences
Fang Deng, Xiuan Gao, Limian Xu, Weijie Li, Zubing Mei, Caijun Xie
Summary: The purpose of this study is to provide the latest evidence on the risk of adverse obstetric and perinatal outcomes in female survivors of childhood or adolescent cancer.
Article
Obstetrics & Gynecology
Michelle Y. Lu, Christina T. Blanchard, Elizabeth B. Ausbeck, Kacie R. Oglesby, Margaret R. Page, Allison J. Lazenby, Gabriella D. Cozzi, Rodrigo D. Munoz Rogers, Elisa T. Bushman, Elle R. Kaplan, Martha F. Ruzic, Mythreyi Mahalingam, Sarah Dunk, Macie Champion, Brian M. Casey, Alan T. Tita, Dhong-Jin Kim, Jeff M. Szychowski, Akila Subramaniam
Summary: The study evaluated the outcomes of implementing a risk-stratified heparin-based obstetric thromboprophylaxis protocol. Results showed that although there was an increase in wound hematomas, unplanned surgical procedures, and blood transfusions post-protocol, there was no significant decrease in postpartum VTE.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Multidisciplinary Sciences
Fang Deng, Xiuan Gao, Limian Xu, Weijie Li, Zubing Mei, Caijun Xie
Summary: This study aims to provide the up-to-date evidence on the risk of adverse obstetric and perinatal outcomes in female survivors of childhood or adolescent cancer through a meta-analysis. The research will be conducted and reported following appropriate guidelines and tools, and heterogeneity will be explored through subgroup analysis based on multiple study characteristics.
Article
Obstetrics & Gynecology
Terence T. Lao, Shuk-Yi Annie Hui
Summary: Asthma is the most common chronic condition during pregnancy. Poor control and exacerbations of asthma can lead to adverse obstetric outcomes, such as fetal anomalies and preterm delivery. Interdisciplinary management and tailored treatment are necessary to improve maternal and perinatal outcomes.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2022)
Article
Obstetrics & Gynecology
Anic C. Alves, Jose G. Cecatti, Jussara Mayrink, Rafael B. Galvao, Maria L. Costa, Francisco E. Feitosa, Edilberto A. Rocha Filho, Debora F. Leite, Ricardo P. Tedesco, Danielly S. Santana, Karayna G. Fernandes, Maria J. Miele, Joao P. Souza, Renato T. Souza
Summary: The study compared the effectiveness of using the RS-14 and RS-25 scales in the obstetric population, finding that RS-14 may overestimate RS-25 scores and may not assess different domains effectively. Further evaluation of the psychometric properties and clinical relevance of the variation between the two versions is needed.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2022)