Results 51 to 60 of about 135,890 (335)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

A Closer Look at the Global Management of Spina Bifida: The Implementation of Endoscopic Third Ventriculostomy in the Treatment of Spina Bifida-Related Hydrocephalus in Africa [PDF]

, 2018
Spina bifida, specifically myelomeningocele, is a debilitating neural tube defect that affects patients and families throughout the world. Traditional management and treatment methods are described, followed by an explanation of why this is often ...
Burckart, Caryssa
core   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Communicating hydrocephalus due to cerebral venous sinus thrombosis treated with ventriculoperitoneal shunt

Annals of Indian Academy of Neurology, 2012
Cerebral venous sinus thrombosis (CVT) is a rare cerebrovascular disease with variable presentation. CVT rarely causes hydrocephalus. Communicating hydrocephalus due to CVT is extremely rare.
Rahul T Chakor, Sandeep Jakhere, Bhakti Yeragi Gavai, N S Santhosh   +3 more
doaj   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan, Vidit Talati, Jagatkumar A. Patel, Theodore V. Nguyen, Arash Abiri, Jonathan C. Pang, Khodayar Goshtasbi, Lauren Liu, John R. Craig, Peter Papagiannopoulos, Katie M. Phillips, Bobby A. Tajudeen, Nithin D. Adappa, James N. Palmer, Ahmad R. Sedaghat, Eric W. Wang, Vijay Anand, Pete S. Batra, Marvin Bergsneider, Manuel Bernal‐Sprekelsen, Benjamin S. Bleier, Paolo Cappabianca, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Luigi M. Cavallo, Marc A. Cohen, Iacopo Dallan, Jean Anderson Eloy, Ivan H. El‐Sayed, James J. Evans, Juan C. Fernandez‐Miranda, Marco Ferrari, Sebastien Froelich, Paul A. Gardner, Christos Georgalas, Stacey T. Gray, Ehab Y. Hanna, Richard J. Harvey, Sang Duk Hong, Peter H. Hwang, Daniel F. Kelly, Doo‐Sik Kong, Ming‐Ying Lan, John Y. K. Lee, Corinna G. Levine, James K. Liu, Davide Locatelli, Cem Meço, Erin L. McKean, Piero Nicolai, Gurston G. Nyquist, Kazuhiro Omura, Thibault Passeri, Zara M. Patel, Maria Peris Celda, Carlos Pinheiro Neto, Danny M. Prevedello, Mindy R. Rabinowitz, Shaan M. Raza, Pablo F. Recinos, Marc R. Rosen, Zoukaa B. Sargi, Rodney J. Schlosser, Theodore H. Schwartz, Raj Sindwani, Carl H. Snyderman, Aldo C. Stamm, Brian D. Thorp, Mario Turri‐Zanoni, Marilene B. Wang, Wei‐Hsin Wang, Ian J. Witterick, Tae‐Bin Won, Bradford A. Woodworth, Peter‐John Wormald, Gabriel Zada, Shirley Y. Su   +77 more
wiley   +1 more source

Plasma and cerebrospinal fluid concentrations of neurofilament light protein correlate in patients with idiopathic normal pressure hydrocephalus

Fluids and Barriers of the CNS, 2023
Background Neurofilament light chain protein (NFL), a marker of neuronal axonal degeneration, is increased in cerebrospinal fluid (CSF) of patients with idiopathic normal pressure hydrocephalus (iNPH).
A. Jeppsson, Å. Sandelius, A. Zettergren, S. Kern, I. Skoog, K. Blennow, H. Zetterberg, C. Wikkelsø, P. Hellström, M. Tullberg   +9 more
doaj   +1 more source

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment [PDF]

, 2004
BACKGROUND: Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization.
A Plaja, AF Davies, AF Davies, AF Davies, AF Davies, AJ Mears, AP Moriarty, BL Hogan, BM Anderlid, CG Palmer, CJ Law, CS Reid, DY Nishimura, DY Nishimura, E D'Alessandro, E Guillen-Navarro, E van Swaay, ES Sachs, F Mirzayans, G Pierquin, GE Winnier, HK Hong, HZ Zhang, IM MacDonald, JA West-Mays, JC Phillips, K Ouchi, LE Sivak, LM Walsh, M Alashari, MH Kormann-Bortolotto, MJ Solloway, OJ Lehmann, PC Kelly, PJ Mitchell, RE Swiderski, RS Smith, SA Miller, SH Kidson, SM Jalal, SV Patel, T Kume, T Kume, T Nottoli, VL Zurcher, Y Kurihara   +45 more
core   +3 more sources

Noradrenergic and cholinergic innervation of the normal human heart and changes associated with cardiomyopathy

The Anatomical Record, EarlyView.
Abstract Autonomic nerves are crucial in cardiac function and pathology. However, data on the distribution of cholinergic and noradrenergic nerves in normal and pathologic human hearts is lacking. Nonfailing donor hearts were pressure‐perfusion fixed, imaged, and dissected. Left ventricular cardiomyopathy samples were also obtained.
Peter Hanna, Donald B. Hoover, Logan G. Kirkland, Elizabeth H. Smith, Megan D. Poston, Stanley G. Peirce, Chloe G. Garbe, Steven Cha, Shumpei Mori, Jaclyn A. Brennan, John Andrew Armour, Eric Rytkin, Igor R. Efimov, Olujimi A. Ajijola, Jeffrey L. Ardell, Kalyanam Shivkumar   +15 more
wiley   +1 more source

Ethnomedicinal Uses, Phytochemistry, Pharmacological Activities, and Toxicology of the Subfamily Gomphrenoideae (Amaranthaceae): A Comprehensive Review

Chemistry &Biodiversity, EarlyView.
ABSTRACT The subfamily Gomphrenoideae is composed of about 480 accepted species, many of which have been historically used as medicinal plants, reason why they have been studied in terms of chemical profile, biological activity, and safety. This review consolidates the advances in research on this subfamily over the past 47 years, emphasizing its ...
Dayanna Isabel Araque Gelves, Giulia Cristina de Andreoli Souza, Alvaro Jose Hernandez Tasco, Marcos José Salvador   +3 more
wiley   +1 more source

GABAergic neurons regulate lateral ventricular development via transcription factor Pax5 [PDF]

, 2013
Postmortem studies have revealed a downregulation of the transcription factor Pax5 in GABAergic neurons in bipolar disorder, a neurodevelopmental disorder, raising the question whether Pax5 in GABAergic neurons has a role in normal brain development.
Asada, Benes, Bouchard, Ciani, Condie, Edmiston, Estivill-Torrus, Funahashi, Homanics, Horcher, Kempton, Louvi, Ma, Machon, Makiyama, Matsumoto, Meduri, Miller, Muyrers, Novak, Oh, Pfeffer, Rosa, Rowitch, Schwarz, Srinivas, Tamamaki, Tashiro, Tashiro, Thomas, Urbanek, Wojcik, Wurst, Ye, Zygourakis   +34 more
core   +2 more sources