Results 81 to 90 of about 97,151 (249)

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

Perceptions of the causes of miscarriage among healthcare providers and women with a history of miscarriage in Kerman: A qualitative exploration

Women's Health
Background Miscarriage is a common pregnancy outcome with emotional, psychological and social consequences for many women. Although several biomedical risk factors have been identified, many miscarriages remain unexplained.
Farzaneh Ashrafinia, Susan Crowther, Niloufar Bahrampour, Omolbanin Heydari   +3 more
doaj   +1 more source

Quality of life and psychological distress in women with recurrent miscarriage: a comparative study

Health and Quality of Life Outcomes, 2018
Background This study aimed to evaluate quality of life and psychological distress in Iranian women with recurrent miscarriage and to compare it in women without miscarriage.
Zahra Tavoli, Mahsa Mohammadi, Azadeh Tavoli, Ashraf Moini, Mohammad Effatpanah, Leila Khedmat, Ali Montazeri   +6 more
doaj   +1 more source

Experience of miscarriage: an interpretative phenomenological analysis [PDF]

, 2017
Objective: The objective of the study was to explore the experiences of those who have experienced miscarriage, focusing on men's and women's accounts of miscarriage. Design: This was a qualitative study using a phenomenological framework.
Spillane, Niamh, N Spillane, K O'Donoghue, O\u27Donoghue, Keelin, S Meaney, Meaney, Sarah, Corcoran, Paul, P Corcoran, O'Donoghue, Keelin   +8 more
core   +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

Author Correction: A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment

Scientific Reports, 2023
Madara S. B. Ralapanawe, Sugandika L. Gajaweera, Nishendra Karunaratne, Vajira H. W. Dissanayake, Malcolm J. Price, Pedro Melo, Arri Coomarasamy, Ioannis D. Gallos   +7 more
doaj   +1 more source

Maternal Risk Factors among Pregnant Women with Miscarriage

Althea Medical Journal
Background: Approximately, 4.1% of maternal deaths in Indonesia occur due to miscarriage. Miscarriage might be caused by various factors such as fetal, maternal, and external factors.
Norlaila Sofia, Eddy Fadlyana, Setyorini Irianti, Sofie Krisnadi, Hadi Susiarno   +4 more
doaj   +1 more source

The role of magnesium in the genesis and prevention of miscarriage

Медицинский совет, 2014
Miscarriage is contributed by a number of different factors; among those, magnesium deficiency has a specific mechanism and polypathogenic effects. According to the results of numerous studies, magnesium medicines are effective in complex therapy of ...
A. L. Unanyan, I. S. Sidorova, S. E. Arakelov, L. S. Polonskaya, TD Guriyev, V. A. Alimov, D. V. Baburin, A. E. Kadyrova, Y. M. Kossovich   +8 more
doaj   +1 more source

A Swedish study of midwives' and nurses' experiences when women are diagnosed with a missed miscarriage during a routine ultrasound scan

, 2010
Objectives: The aim was to describe midwives’ and nurses’ experiences when women are diagnosed with a missed miscarriage during a routine ultrasound scan in pregnancy weeks 18–20.Study designs: A qualitative content analysis with an inductive approach ...
Adolfsson, A, Adolfsson, Annsofie,, Jansson, Caroline,, Jansson, C   +3 more
core   +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