Results 51 to 60 of about 52,163 (263)

Looking after bubba for all our mob: Aboriginal and Torres Strait Islander community experiences and perceptions of stillbirth

Frontiers in Public Health
The stillbirth rate among Aboriginal and Torres Strait Islander women and communities in Australia is around double that of non-Indigenous women. While the development of effective prevention strategies during pregnancy and improving care following ...
Luciana Massi, Luciana Massi, Carolyn Lewis, Skye Stewart, Diana Jans, Rupesh Gautam, Lina Jalloub, Anneka Bowman, Philippa Middleton, Philippa Middleton, Sue Vlack, Frances M. Boyle, Frances M. Boyle, Carrington Shepherd, Carrington Shepherd, Carrington Shepherd, Vicki Flenady, Deanna Stuart-Butler, Kym M. Rae, Kym M. Rae, Kym M. Rae   +20 more
doaj   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Assessment of the psychometric properties of the Italian version of the revised impact of miscarriage scale (RIMS): a validity and reliability study

BMC Pregnancy and Childbirth
Background Miscarriage is a traumatic life event that involves over forty thousand Italian women every year. Women affected by this loss can have long-term psychological consequences.
Antonella Nespoli, Simona Fumagalli, Laura Mosconi, Roberto Bonaiuti, Alfredo Vannacci, Claudia Ravaldi   +5 more
doaj   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Performance and financial consequences of stillbirth in Holstein dairy cattle

Animal, 2018
Stillbirth is an economically important trait on dairy farms. Knowledge of the consequences of, and the economic losses associated with stillbirth can help the producer when making management decisions.
A. Mahnani, A. Sadeghi-Sefidmazgi, H. Keshavarzi   +2 more
doaj   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Maternal region of birth and stillbirth in Victoria, Australia 2000-2011: A retrospective cohort study of Victorian perinatal data.

PLoS ONE, 2017
BackgroundThere is growing evidence from high-income countries that maternal country of birth is a risk factor for stillbirth. We aimed to examine the association between maternal region of birth and stillbirth between 2000 and 2011 inclusive in Victoria,
Miranda L Davies-Tuck, Mary-Ann Davey, Euan M Wallace   +2 more
doaj   +1 more source

Prevalence, Aetiology and Underlying Mechanism of Stillbirth: A Review [PDF]

BioSocial Health Journal
Introduction: Stillbirth is a global issue. The major factors linked to stillbirth include maternal age, parity (number of prior pregnancies), ethnicity, and pre-existing medical conditions such as diabetes or hypertension.
Sanchaita Bera, Arunima Ghosh, Biswajit Chakraborty, Pikash Pratim Maity, Smarajit Maiti   +4 more
doaj   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Exploring first‐time mothers' experiences and knowledge about behavioural risk factors for stillbirth

Health Expectations, 2023
Background Modifiable factors such as substance use, lack of attendance at antenatal care, overweight or obesity and sleeping position are associated with a higher risk of stillbirth.
Tamara Escañuela Sánchez, Karen Matvienko‐Sikar, Sarah Meaney, Keelin O'Donoghue   +3 more
doaj   +1 more source