Read by QxMD icon Read

Pediatric Neurology

shared collection
134 papers 25 to 100 followers
By Michael Young Harvard Medical School
Yaron Einhorn, Daphna Weissglas-Volkov, Shai Carmi, Harry Ostrer, Eitan Friedman, Noam Shomron
Sequencing large cohorts of ethnically homogeneous individuals yields genetic insights with implications for the entire population rather than a single individual. In order to evaluate the genetic basis of certain diseases encountered at high frequency in the Ashkenazi Jewish population (AJP), as well as to improve variant annotation among the AJP, we examined the entire exome, focusing on specific genes with known clinical implications in 128 Ashkenazi Jews and compared these data to other non-Jewish populations (European, African, South Asian and East Asian)...
May 15, 2017: Genetics Research
Michael J Young, Ethan Scheinberg
No abstract text is available yet for this article.
April 25, 2017: JAMA: the Journal of the American Medical Association
Thaís Lira Cleto, Leandro Falcão de Araújo, Karen Grazielle Capuano, Adriane Rego Ramos, Arnaldo Prata-Barbosa
No abstract text is available yet for this article.
December 2016: Pediatric Neurology
Ayşe Deniz Elmal, Ayşegül Gündüz, Nurten Uzun, Hülya Apaydn, Güneş Kzltan
No abstract text is available yet for this article.
May 2016: Clinical Neuropharmacology
Katharina Galuschka, Gerd Schulte-Körne
BACKGROUND: 3-11% of children and adolescents suffer from a reading andor spelling disorder. Their poor written-language skills markedly impair their scholastic performance and are often associated with other mental disorders. A great deal of uncertainty still surrounds the question of the appropriate methods of diagnosis and treatment. METHODS: We systematically searched for pertinent publications in databases and literature reference lists, summarized the evidence in six tables, and examined some of it in a meta-analysis...
April 22, 2016: Deutsches Ärzteblatt International
Rhodri Cusack, Gareth Ball, Christopher D Smyser, Ghislaine Dehaene-Lambertz
Can babies think? A fundamental challenge for cognitive neuroscience is to answer when brain functions begin and in what form they first emerge. This is challenging with behavioral tasks, as it is difficult to communicate to an infant what a task requires, and motor function is impoverished, making execution of the appropriate response difficult. To circumvent these requirements, neuroimaging provides a complementary route for assessing the emergence of cognition. Starting from the prerequisites of cognitive function and building stepwise, we review when the cortex forms and when it becomes gyrated and regionally differentiated...
April 2016: Annals of the New York Academy of Sciences
F Boem, E Ratti, M Andreoletti, G Boniolo
In the last few years, the lack of a unitary notion of gene across biological sciences has troubled the philosophy of biology community. However, the debate on this concept has remained largely historical or focused on particular cases presented by the scientific empirical advancements. Moreover, in the literature there are no explicit and reasonable arguments about why a philosophical clarification of the concept of gene is needed. In our paper, we claim that a philosophical clarification of the concept of gene does not contribute to biology...
June 2016: Studies in History and Philosophy of Biological and Biomedical Sciences
Feng-Chiao Su, Stephen A Goutman, Sergey Chernyak, Bhramar Mukherjee, Brian C Callaghan, Stuart Batterman, Eva L Feldman
IMPORTANCE: Persistent environmental pollutants may represent a modifiable risk factor involved in the gene-time-environment hypothesis in amyotrophic lateral sclerosis (ALS). OBJECTIVE: To evaluate the association of occupational exposures and environmental toxins on the odds of developing ALS in Michigan. DESIGN, SETTING, AND PARTICIPANTS: Case-control study conducted between 2011 and 2014 at a tertiary referral center for ALS. Cases were patients diagnosed as having definitive, probable, probable with laboratory support, or possible ALS by revised El Escorial criteria; controls were excluded if they were diagnosed as having ALS or another neurodegenerative condition or if they had a family history of ALS in a first- or second-degree blood relative...
July 1, 2016: JAMA Neurology
Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I Wolf, Geneviève Bernard, Amy Pizzino, Johanna L Schmidt, Asako Takanohashi, David Miller, Amirah Khouzam, Vani Rajan, Erica Ramos, Shimul Chowdhury, Tina Hambuch, Kelin Ru, Gregory J Baillie, Sean M Grimmond, Ljubica Caldovic, Joseph Devaney, Miriam Bloom, Sarah H Evans, Jennifer L P Murphy, Nathan McNeill, Brent L Fogel, Raphael Schiffmann, Marjo S van der Knaap, Ryan J Taft
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant genes in a further 7% (5 of 71) of cases, giving a total yield of clinical diagnoses in 42% of individuals...
June 2016: Annals of Neurology
Jerome Sarris, Jenifer Murphy, David Mischoulon, George I Papakostas, Maurizio Fava, Michael Berk, Chee H Ng
OBJECTIVE: There is burgeoning interest in augmentation strategies for improving inadequate response to antidepressants. The adjunctive use of standardized pharmaceutical-grade nutrients, known as nutraceuticals, has the potential to modulate several neurochemical pathways implicated in depression. While many studies have been conducted in this area, to date no specialized systematic review (or meta-analysis) has been conducted. METHOD: A systematic search of PubMed, CINAHL, Cochrane Library, and Web of Science was conducted up to December 2015 for clinical trials using adjunctive nutrients for depression...
June 1, 2016: American Journal of Psychiatry
Ron Dabby, Ruth Djaldetti, Ronit Gilad, Oscar Herman, Jacob Frand, Menahem Sadeh, Nathan Watemberg
Heroin-related peripheral nervous injury has scarcely been reported, mostly as compressive neuropathy. Rarely, other types of peripheral nervous system (PNS) injury have been recognized, such as plexopathy, polyradiculopathy, mononeuropathy, and rhabdomyolysis. These complications are usually not related to local trauma, but the nature of nerve injury remains unknown. Immunologic mechanisms have been proposed, although generally there is no laboratory evidence of inflammation and usually there is no improvement following steroid therapy...
December 2006: Journal of the Peripheral Nervous System: JPNS
Ana-Catarina Pinho-Gomes, Adam Hague, Jonathan Ghosh
BACKGROUND: The compelling safety, efficacy and predictable effect of novel oral anticoagulants (NOACs) is driving a rapid expansion in their therapeutic indications. Management of the increasing number of patients on those new agents in the setting of emergency or trauma surgery can be challenging and the absence of specific reversal agents has been a matter of concern. This review summarises the key principles that underpin the management of those patients with a particular emphasis on the recent development of specific antidotes...
August 2016: Surgeon: Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
Marina Basarab, Conor Bowman, Emma J Aarons, Ian Cropley
No abstract text is available yet for this article.
February 26, 2016: BMJ: British Medical Journal
Angel Y S Wong, Ian C K Wong, Celine S L Chui, Edwin H M Lee, W C Chang, Eric Y H Chen, Wai K Leung, Esther W Chan
IMPORTANCE: There is a concern that Helicobacter pylori therapy containing clarithromycin might be associated with acute neuropsychiatric events. OBJECTIVE: To examine the association between H pylori therapy containing clarithromycin and acute neuropsychiatric events. DESIGN, SETTING, AND PARTICIPANTS: A self-controlled case series study was conducted using the Clinical Data Analysis and Reporting System database in Hong Kong to explore any association...
June 1, 2016: JAMA Internal Medicine
Alan Karbelnig
Using Kafka's short story A Country Doctor and clinical examples as vehicles, the author demonstrates the centrality of psychoanalysts' styles and life experiences to the psychoanalytic process. Albeit charged with a distinct facilitative task, psychoanalysts inevitably bring their qualities as "fellow sufferers" (to use D. M. Orange's term) into their sessions. They experience pressures placed upon them as the "subject presumed to know," as Lacan describes. They encounter the ubiquity of self-deception, facing many unknown and unpredictable elements as they surrealistically travel through time with their patients...
February 2016: Psychoanalytic Review
Jelena Radić Nišević, Igor Prpić, Ronald Antulov, Antun Sasso, Izidora Holjar Erlić
BACKGROUND: Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis and characterized by unique hairless scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations, and central nervous system anomalies. According to the 2009 diagnostic criteria proposed by Moog et al., ocular abnormalities are supposed to be the most consistent feature of encephalocraniocutaneous lipomatosis. PATIENT DESCRIPTION: We describe an 18-year-old girl with most of the central nervous system manifestations of encephalocraniocutaneous lipomatosis, major skin alterations including nevus psiloliparus, but no ocular involvement...
July 2016: Pediatric Neurology
Alexander Egeberg, Peter R Hansen, Gunnar H Gislason, Jacob P Thyssen
OBJECTIVE: Rosacea is a common chronic inflammatory skin disorder where upregulation of matrix metalloproteinases (MMPs) and antimicrobial peptides (AMPs) is observed. Notably, inflammation, MMPs, and AMPs are also involved in the etiopathogenesis of neurodegenerative disorders including certain forms of dementia such as Alzheimer disease (AD). Based on several clinical observations, we investigated the association between rosacea and dementia, including AD in Danish registers. METHODS: All Danish citizens aged ≥18 years between January 1, 1997 and December 31, 2012 were linked at the individual level through administrative registers...
June 2016: Annals of Neurology
Keith Fluegge
No abstract text is available yet for this article.
November 2016: Journal of Child and Adolescent Psychopharmacology
Oliver Sum-Ping, Christian Guilleminault
Kleine-Levin Syndrome [KLS] is often under-recognized and also misdiagnosed. When suspicion for KLS is raised, a thorough clinical evaluation should be performed, including detailed history from family members and a neurologic and psychiatric examination. Additional studies may include PSG, EEG, neuroimaging, as well as serological and CSF studies to rule out alternative diagnoses as clinically indicated. After arriving at a diagnosis of KLS, the foundation of care is supportive. Patients and their families should be provided with education about the disease...
June 2016: Current Treatment Options in Neurology
Gideon Nesher, Eli Ben-Chetrit, Bracha Mazal, Gabriel S Breuer
OBJECTIVE: The incidence of primary systemic vasculitides varies among different geographic regions and ethnic origins. The aim of this study was to examine the incidence rates of vasculitides in the Jerusalem Jewish population, and to examine possible trends in incidence rates over a 20-year period. METHODS: The clinical databases of inpatients at the 2 medical centers in Jerusalem were searched for patients with vasculitis diagnosed between 1990-2009. Individual records were then reviewed by one of the authors...
June 2016: Journal of Rheumatology
2016-04-19 14:52:55
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"