Results 51 to 60 of about 2,001,224 (334)

Acidemia orgánica (propiónica) en un neonato detectada por espectrometría de masas en tándem

Biomédica: revista del Instituto Nacional de Salud, 2008
La acidemia propiónica es un error innato del metabolismo de herencia autosómica recesiva, causada por la deficiencia de la enzima propionil CoA carboxilasa, que cataliza la conversión de propionil CoA a malonil CoA.
Yolanda Cifuentes, Isabel De la Hoz, Martha Bermúdez, Clara Arteaga   +3 more
doaj   +1 more source

Prolonged Corrected QT Interval as an Early Electrocardiographic Marker of Cyclophosphamide‐Induced Cardiotoxicity in Pediatric Hematology and Oncology Patients

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cyclophosphamide (CY) is associated with potentially fatal cardiotoxicity, yet no electrocardiographic indices have been established for early detection of CY‐induced cardiomyopathy. This study aimed to determine whether corrected QT interval (QTc) prolongation can predict early onset of CY‐related cardiac dysfunction in pediatric ...
Junpei Kawamura, Kentaro Ueno, Takuro Nishikawa, Yoshihiro Takahashi, Koji Nakae, Yasuhiro Okamoto   +5 more
wiley   +1 more source

Interview with the Coordinator Prof. Giuseppe Di Giovanni, University of Malta, Department of Physiology and Biochemistry [PDF]

, 2015
Interview with the Coordinator of the Malta Neuroscience Network Programme, Prof. Giuseppe Di Giovanni regarding the Malta Neuroscience Net- work. "With the creation of the Malta Neuroscience Network, we will be keeping up with the most important ...
Di Giovanni, Giuseppe
core  

Proteinopathy, oxidative stress and mitochondrial dysfunction: cross talk in alzheimer’s disease and parkinson’s disease [PDF]

, 2017
Alzheimer's disease and Parkinson's disease are two common neurodegenerative diseases of the elderly people that have devastating effects in terms of morbidity and mortality.
Chakrabarti, S., Chatterjee, U., Ganguly, G., Saso, L.   +3 more
core   +3 more sources

Clinical features of rhinocerebral mucormycosis with cranial nerves involvement: report of 8 cases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To summarize the clinical features and outcomes of patients with rhinocerebral mucormycosis involving cranial nerve. Methods and Results Eight pathologic confirmed cases of rhinocerebral mucormycosis with cranial nerves involvement since ...
CUI Shi⁃lei, JIANG Han⁃qiu, KONG Xiu⁃yun, BAI Yu⁃ping, LIU Cheng⁃yao, WANG Jia⁃wei   +5 more
doaj   +1 more source

A Systematic Review of Evidence on the Clinical Effectiveness of Surveillance Imaging in Children With Medulloblastoma and Ependymoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Surveillance imaging aims to detect tumour relapse before symptoms develop, but it's unclear whether earlier detection of relapse leads to better outcomes in children and young people (CYP) with medulloblastoma and ependymoma. This systematic review aims to identify relevant literature to determine the efficacy of surveillance magnetic ...
Lucy Shepherd, Melissa Taylor, Helen Fulbright, Bob Phillips   +3 more
wiley   +1 more source

Reflections on the Utility of the Retina as a Biomarker for Alzheimer's Disease: A Literature Review. [PDF]

, 2019
As a part of the central nervous system, the retina may reflect both physiologic processes and abnormalities related to diseases of the brain. Indeed, a concerted effort has been put forth to understand how Alzheimer's disease (AD) pathology may manifest
Honma, Patrick, Ngolab, Jennifer, Rissman, Robert A   +2 more
core   +1 more source

Congenital Myasthenic Syndrome with Agrin Mutations

Pediatric Neurology Briefs, 2014
Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a ...
J Gordon Millichap, John J Millichap
doaj   +1 more source

Prognostic Impact of Treatment Modalities, Including Targeted Compartmental Radio‐Immunotherapy, in a Cohort of Neuroblastoma Patients With CNS Metastases at Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neuroblastoma (NB) with central nervous system (CNS) metastases is rare at diagnosis, but occurs more often during relapse/progression. Patients with CNS metastases face a dismal prognosis, with no standardized curative treatment available.
Vicente Santa‐Maria Lopez, Anna Felip‐Badia, Marina Caballero‐Bellon, Nazaret Sanchez‐Sierra, Alicia Castañeda, Moira Garraus, Maite Gorostegui, Margarida Simão‐Rafael, Juan Pablo Muñoz, Marta Perez‐Somarriba, Salvador Mañe, Mariana Cecilia Planells, Sara Perez‐Jaume, Jaume Mora   +13 more
wiley   +1 more source

The Degeneration of the Human Mind: An Analysis of Alzheimer’s Disease, A Kuhnian Perspective [PDF]

, 2013
In 1906, a German physician, Dr. Alois Alzheimer, specifically identified a collection of brain cell abnormalities (and the formation of plaque in the brain) as a disease, which forever changed the way scientists view degenerative cognitive disorders ...
Ilg, Genevieve
core   +1 more source