Results 61 to 70 of about 133,704 (263)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Congenital Anomalies Among Newborns in Diyala Province in 2017

Diyala Journal of Medicine, 2020
Background: Congenital anomalies or birth defects are groups of disordered of prenatal origin which can be caused by single gene defect, chromosomal disordered, multifactorial inheritance, and environmental teratogens.
Samara Mahmood Abdulhadi , Nadhim Ghazal Noaman, Shefaa Mansour Hemza   +2 more
doaj   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

Animal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala, Mohammadjavad Rezaei‐Varmaziar, Majid Taati, Ali Soleimanzadeh, Abbas Raisi, Farshid Davoodi, Amir Ali Shahbazfar   +6 more
wiley   +1 more source

SnRNA‐seq reveals cellular heterogeneity and proliferation mechanisms in limb venous malformations

Animal Models and Experimental Medicine, EarlyView.
To dissect the cellular heterogeneity and invasive mechanisms of limb venous malformations (VMs), this study first obtained tissue samples from four patients with VMs and four normal controls (NC). Single‐nucleus suspension was prepared, followed by transcriptome library construction and sequencing. After pretreatment, quality control, standardization,
Junjie Lin, Tingting Liu, Bin Fang, Xiaojuan Feng, Wenting Jiao, Changkuan Chen, Yaqing Ding, Gaozan Zhu, Wenqiu Wang, Wenbo Liu, Yuanqi Li, Shoufu Hou, Jianshe Wei, Junbo Qiao   +13 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

Molecular Genetics & Genomic Medicine, 2019
Background The implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy.
Gorazd Rudolf, Luca Lovrečić, Nataša Tul, Nataša Teran, Borut Peterlin   +4 more
doaj   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

Perinatal outcomes in Malta between 2008 and 2022: a comparison of three 5 yearly epochs

Frontiers in Public Health
BackgroundPerinatal and neonatal mortality rates are quality indicators of antenatal, neonatal and postnatal care. This study describes perinatal outcomes for Malta over the 15 year period 2008–2022 to inform future practice and healthcare provision ...
Nadine Anne De Battista, Miriam Gatt, Minesh Khashu   +2 more
doaj   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source