Results 41 to 50 of about 1,239,775 (242)

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit. [PDF]

, 2017
ObjectiveTo evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study designProspective evaluation of ...
Allen, D, Assing, E, Axelrod, R, Blau, J, Chandra, S, Cohen, M, Fofah, O, Garg, LF, Giuliano, M, Govindaswami, B, Grazel, R, Hassinger, D, Hudome, S, Jegatheesan, P, Koppel, R, Kumar, P, Lakshminrusimha, S, Lohr, J, McClure, D, Spillane, N, Van Naarden Braun, K   +20 more
core   +2 more sources

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Infants’ perception of rhythmic patterns [PDF]

, 2006
We explored 9-month-old infants perception of auditory temporal sequences in a series of three experiments. In Experiment 1, we presented some infants with tone sequences that were expected to induce a strongly metric framework and others with a sequence
Bergeson, Tonya R., Trehub, Sandra E.
core   +1 more source

Bronchiolitis. Analysis of 10 consecutive epidemic seasons [PDF]

, 2016
Bronchiolitis is the leading cause of hospitalization in infants under 12 months. Our aims were to analyze epidemiological characteristics of infants with bronchiolitis over 10 consecutive seasons and to evaluate whether there are any clinical ...
Antonelli, Guido, Cangiano, Giulia, Capocaccia, Paolo, Evangelisti, Melania, Frassanito, Antonella, Midulla, Fabio, Moretti, Corrado, Nenna, Raffaella, Nicolai, Ambra, Papoff, Paola, Petrarca, Laura, Pierangeli, Alessandra, Scagnolari, Carolina   +12 more
core   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

Patterns of Cellular Distribution with the Sentinel Node Positive for Breast Cancer

International Journal of Breast Cancer, 2011
Background. Sentinel node biopsy (SNB) represents the standard of care in breast cancer axillary evaluation. Our study aims to characterize the patterns of malignant cell distribution within the sentinel nodes (SN). Methods.
Ekaterini Tsiapali, Marcia M. Schmidt, Don Dizon, Margaret Steinhoff, Jennifer Gass   +4 more
doaj   +1 more source

Breastfeeding and developmental delay: Findings from the Millennium Cohort Study [PDF]

, 2006
OBJECTIVE: We investigated whether the duration and exclusivity of breastfeeding affects the likelihood of gross and fine motor delay in infants and examined the effect of factors that might explain any observed differences.
Kelly, YJ, Quigley, MA, Sacker, A
core   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Neoadjuvant chemotherapy induces phenotypic mast cell changes in high grade serous ovarian cancer

Journal of Ovarian Research
Background High grade serous ovarian cancer (HGSOC) is the most lethal gynecologic malignancy in which patients have still yet to respond meaningfully to clinically available immunotherapies. Hence, novel immune targets are urgently needed. Our past work
Julia McAdams, Jasmine Ebott, Corinne Jansen, Chloe Kim, Daniela Maiz, Joyce Ou, Linda C. Hanley, Payton De La Cruz, Nicole E. James   +8 more
doaj   +1 more source

Pregnancy Complicated by Portal Hypertension Secondary to Biliary Atresia

Case Reports in Obstetrics and Gynecology, 2013
Biliary atresia is a rare idiopathic neonatal cholestatic disease characterized by the destruction of both the intra- and extrahepatic biliary ducts. As the disease is progressive all cases will develop portal fibrosis, cirrhosis, and portal hypertension
O. E. O'Sullivan, D. Crosby, B. Byrne, C. Regan   +3 more
doaj   +1 more source