Results 61 to 70 of about 2,214,382 (367)

Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study

BMC Research Notes, 2012
Background Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place.
Obu Herbert A, Chinawa Josephat M, Uleanya Nwachinemere D, Adimora Gilbert N, Obi Ikechukwu E   +4 more
doaj   +1 more source

Matrix: a complex amalgam of structures and functions in tumor microenvironment

FEBS Open Bio, EarlyView.
The matrix is a dynamic, intricate three‐dimensional mesh of biomolecules with both structural and functional properties. This review deals with the complexity of this ‘molecular amalgam’ in the tumor microenvironment and highlights its importance in the maintenance and evolution of tumors by describing certain matrix biomolecules, such as ...
Spyros S. Skandalis, Evgenia Tsoukala, Theodora D. Sarantopoulou, Maria‐Elpida Christopoulou   +3 more
wiley   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Chircop, Marcelle, Ellul, Marthese, Grech, Victor E., Grixti, Charles J.   +3 more
core  

Human gene copy number spectra analysis in congenital heart malformations [PDF]

, 2012
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P., Broeckel, Ulrich, Goetsch, Mary A., Harris, Susan, Hidestrand, Mats, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Struble, Craig, Tomita-Mitchell, Aoy, Tuffnell, Maureen E., Tweddell, James S.   +13 more
core   +2 more sources

Prevalence and Spectrum of In Utero Structural Brain Abnormalities in Fetuses with Complex Congenital Heart Disease

American Journal of Neuroradiology, 2014
BACKGROUND AND PURPOSE: Brain injury is a major complication in neonates with complex congenital heart disease. Preliminary evidence suggests that fetuses with congenital heart disease are at greater risk for brain abnormalities.
M. Brossard-Racine, A. J. Plessis, G. Vezina, Richard L. Robertson, D. I. Bulas, I. Evangelou, M. Donofrio, D. Freeman, C. Limperopoulos   +8 more
semanticscholar   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

The role of the pediatrican in the effort to prevent congenital malformations [PDF]

, 2011
N
Brent, Robert L, Dr.
core   +1 more source

Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova, Teresa Fazia, Giovanni Di Caprio, Davide Gentilini, Luisa Bernardinelli, Roberto Bergamaschi   +5 more
wiley   +1 more source

Joule‐Assisted Nanotherapeutic Urethral Stent (JANUS) for Spatiotemporal Theragenerative Treatment of Urethral Strictures

Advanced Functional Materials, EarlyView.
Joule‐assisted nanotherapeutic urethral stent harnesses a smart, biodegradable magnesium stent to orchestrate spatiotemporal theragenerative therapy for urethral strictures. Magnetically induced Joule heating enables on‐demand drug release and bacterial ablation, while simultaneously guiding urothelial regeneration.
Yuhyun Na, Yubeen Park, Hyun Lee, Song Hee Kim, Seojoon Bang, Hyeong Seok Kang, Chan Ho Moon, Ju Yeong Gwon, Jong Hwa Seo, Min‐Ho Kang, Soo‐Hong Lee, Gi Doo Cha, Wooram Park, Heemin Kang, Jung‐Hoon Park, Hyun‐Do Jung   +15 more
wiley   +1 more source