Results 71 to 80 of about 526,418 (247)

Effectiveness of level two anomaly ultrasound scan for detection of congenital anomalies - an observational retrospective study [PDF]

New Indian Journal of OBGYN
Objectives: This study was done to find the effectiveness of level two anomaly scan in detection of congenital anomalies and also to find the maternal and neonatal factors associated with congenital anomalies.
Alka S Gupta, Geeta S Kulkarni, Suraj D Bhame   +2 more
doaj   +1 more source

Cardiovascular: Congenital Anomaly

, 1900
Congenital anomaly (incompletely separated cusps) of AV, with calcification (at site of anomaly): Example of dystrophic ...
MUSC Department of Pathology and Laboratory Medicine
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

DOUBLE RIGHT ATRIUM OR CORTRIATRIUM DEXTRUM A RARE ENTITY:A CASE REPORT

Journal of University Medical & Dental College, 2016
: Cortriatrium dextrum is an extremely rare congenital anomaly .Mostly the anomaly is diagnosed on autopsy as an isolated finding or associated with some other congenital disorder. We report a case of young female presented with palpitation and a systolic
Muhammad Furrakh Maqbool , Khalil Iqbal et al.   +1 more
doaj  

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

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

Author Correction: The first 3D analysis of the sphenoid morphogenesis during the human embryonic period

Scientific Reports, 2023
Natsuko Utsunomiya, Motoki Katsube, Yutaka Yamaguchi, Akio Yoneyama, Naoki Morimoto, Shigehito Yamada   +5 more
doaj   +1 more source

Cyclopia with proboscis: A rare congenital anomaly

, 2021
Cyclopia with a proboscis, a rare congenital anomaly, and a severe form of holoprosencephaly occur as a result of incomplete separation of prosencephalon into two halves of hemispheres during organogenesis.
Suraj Shrestha, Suniti Rawal, Asma Kunwar, Bibek Man Shrestha, Pooja Paudyal   +4 more
core   +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