Results 51 to 60 of about 100,805 (303)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

Laparoscopic detorsion for bilateral ovarian torsion in a singleton pregnancy with spontaneous ovarian hyperstimulation syndrome

Journal of Human Reproductive Sciences, 2014
A 26-year-old primigravida with a singleton pregnancy of 9 weeks gestation presented with severe lower abdominal pain, following spontaneous hyperstimulation of the ovaries in a natural conception.
Sujal Munshi, Azadeh Patel, Manish Banker, Pravin Patel   +3 more
doaj   +1 more source

Nationwide Temporal Trends in Adverse Pregnancy Outcomes and Treatments in Systemic Lupus Erythematosus Pregnancy Over Two Decades in Sweden

Arthritis &Rheumatology, EarlyView.
Objective This nationwide descriptive study examined temporal trends in adverse pregnancy outcomes (APOs) and treatments in systemic lupus erythematosus (SLE) pregnancies in Sweden over 2003 to 2022. Methods Using nationwide Swedish registers, we identified 1,417 pregnancies of women with prevalent SLE and delivery dates in 2003 to 2022 and matched ...
Ngoc V. Nguyen, Anna Sandström, Annica Dominicus, Elisabet Svenungsson, Karin Hellgren, Julia F. Simard, Elizabeth V. Arkema   +6 more
wiley   +1 more source

Case Report: Sequential fetal reduction in a triplet pregnancy and its effects on coagulation balance

Frontiers in Global Women's Health
Over the last few decades, the increase in medically assisted reproduction has led to a significant increase in the frequency of twin and higher-order multiple pregnancies (defined as triplets or more).
Erzsebet Nagy, Ira Bernstein, Maria Cristina Bravo   +2 more
doaj   +1 more source

Weight gain and dietary intake during pregnancy in industrialized countries - a systematic review of observational studies [PDF]

, 2011
Background: Gestational weight gain (GWG) above the recently recommended ranges is likely to be related to adverse pregnancy outcomes and therefore a challenge in industrialized countries.
Aaronson LS, Ancri G, Beal VA, Chu SY, Deierlein AL, Dietz P, Kramer M, Nichols SD, Nohr EA, Ortega RM, Picone TA, Scholl TO, Sepulveda A, Stevens-Simon C, Stevens-Simon C, Viswanathan M, Wrotniak BH   +16 more
core   +1 more source

Physical examination-indicated cerclage in twin pregnancies compared with singleton pregnancies

The Journal of Maternal-Fetal & Neonatal Medicine, 2023
The aim of this study was to compare pregnancy outcomes of physical examination-indicated cerclage in twin and singleton pregnancies with bulging membranes.All women with bulging membranes in the second trimester of pregnancy who were admitted to La Fe University and Polytechnic Hospital from January 2009 to January 2022 were included.
Diago-Munoz, D. M., Martinez-Varea, A., Alonso-Diaz, R., Perales-Marin, A., Diago-Almela, V. J.   +4 more
openaire   +3 more sources

Labor Epidural Analgesia and Autism Spectrum Disorder in Offspring: A Population‐Based Case–Control Study

Autism Research, EarlyView.
ABSTRACT While the immediate benefits of labor epidural analgesia (LEA) are well established, recent studies have raised concerns about possible associations with autism spectrum disorder (ASD). Therefore, we examined the association between LEA and ASD in offspring.
Taniqua T. Ingol, Jessie K. Edwards, Mollie E. Wood, Chantel L. Martin, Gabriel S. Dichter, Keith Feldman, Alan C. Kinlaw, Julie L. Daniels   +7 more
wiley   +1 more source

Clinical and Pathogenetic Causes of Developing Complications in Multiple Pregnancy

Galician Medical Journal, 2020
To assess the role of the placental growth factor in the development of gestational complications during multiple pregnancy, there was conducted a study of this indicator in serum of 320 pregnant women with multiple pregnancy in the first trimester and ...
Iryna Nikitina, Volodymyr Boiko, Tetiana Babar, Natalia Kalashnik, Nataliia Ikonopistseva, Alesia Boiko, Maryna Bolotna   +6 more
doaj   +1 more source

Experimental Zika Virus Infection in the Pregnant Common Marmoset Induces Spontaneous Fetal Loss and Neurodevelopmental Abnormalities. [PDF]

, 2018
During its most recent outbreak across the Americas, Zika virus (ZIKV) was surprisingly shown to cause fetal loss and congenital malformations in acutely and chronically infected pregnant women.
Aagaard, Kjersti M, Castro, Eumenia CC, Chiu, Charles Y, Giavedoni, Luis, Hodara, Vida L, Layne-Colon, Donna, Li, Tony, Martyn, Calla, Parodi, Laura M, Patterson, Jean L, Reyes, Kevin, Rutherford, Julienne, Seferovic, Maxim, Suter, Melissa A, Sánchez-San Martín, Claudia, Tamhankar, Manasi, Tardif, Suzette D, Yagi, Shigeo   +17 more
core   +2 more sources