Results 91 to 100 of about 379,787 (308)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

Auditory Discrimination and Auditory Sensory Behaviours in Autism Spectrum Disorders [PDF]

, 2009
It has been hypothesised that auditory processing may be enhanced in autism spectrum disorders (ASD). We tested auditory discrimination ability in 72 adolescents with ASD (39 childhood autism; 33 other ASD) and 57 IQ and age-matched controls, assessing ...
Charman, Tony, Jones, Catherine
core   +1 more source

Cross-modal extinction in a boy with severely autistic behaviour and high verbal intelligence [PDF]

, 2008
Anecdotal reports from individuals with autism suggest a loss of awareness to stimuli from one modality in the presence of stimuli from another. Here we document such a case in a detailed study of T.M., a 13-year-old boy with autism in whom significant ...
Adini, Y, Akshoomoff, N, Belmonte, MK, Bonneh, YS, Houde, JF, Iversen, PE, Kenet, T, Merzenich, MM, Moore, CI, Pei, F, Simon, HJ   +10 more
core   +1 more source

Evaluation of a Novel Electric Health Record Sidecar Application to Display Rheumatoid Arthritis Clinical Outcomes During Clinic Visits: Results of a Stepped‐Wedge Cluster Randomized Pragmatic Trial

Arthritis Care &Research, EarlyView.
Objective We developed a novel electronic health record sidecar application to visualize key rheumatoid arthritis (RA) outcomes, including disease activity, physical function, and pain, via a patient‐facing graphical interface designed for use during outpatient visits (“RA PRO dashboard”).
Gabriela Schmajuk, Jing Li, Cathy Nasrallah, Cherish Wilson, Alicia Hamblin, Christine Hariz, Cammie Young, Stephen Shiboski, Emma Kersey, Mary Nakamura, Judith F. Ashouri, Mehrdad Matloubian, Andrew J. Gross, Jennifer Barton, Beth Berrean, Jonathan Prugh, Jinoos Yazdany   +16 more
wiley   +1 more source

Heschl's gyrus is more sensitive to tone level than non-primary auditory cortex [PDF]

, 2002
Previous neuroimaging studies generally demonstrate a growth in the cortical response with an increase in sound level. However, the details of the shape and topographic location of such growth remain largely unknown.
Alan R Palmer, Baumgart, Beagley, Belin, Binder, Bowtell, Bowtell, Brechmann, Burkhard, Dadson, Deborah A Hall, Evans, Friston, Friston, Friston, Galaburda, Giraud, Gutschalk, Hall, Hall, Hall, Heeger, Heil, Heil, Heledd C Hart, Hunton, Jancke, Kim, Lai, Lauter, Lockwood, Logothetis, Maes, Millen, Mohr, Mondt, Morosan, Ozdamar, Palmer, Pantev, Penhune, Pfingst, Phillips, Phillips, Phillips, Phillips, Rademacher, Rapin, Raushecker, Recanzone, Recanzone, Rees, Rivier, Rorden, Rutkowski, Shamma, Strainer, Suga, Talavage, Taniguchi, Viemeister, Waldvogel, Wallace, Weeks, Westbury, Yang, Zatorre   +66 more
core   +1 more source

Participation of the Cerebellum in Auditory Processing

Brazilian Journal of Otorhinolaryngology, 2007
The cerebellum, traditionally conceived as a controlling organ of motricity, it is today considered an all-important integration center for both sensitivity and coordination of the various phases of the cognitive process.This paper aims at gather and sort literature information on the cerebellums role in the auditory perception.We have selected animal ...
Maria Sens, Patrícia, Ribeiro de Almeida, Clemente Isnard   +1 more
openaire   +2 more sources

A return to normality: A descriptive qualitative interview study exploring the patient experience of gout flare resolution

Arthritis Care &Research, Accepted Article.
Objectives While the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semi‐structured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart, Anne Horne, Angelo Gaffo, Lisa K Stamp, N Lawrence Edwards, Nicola Dalbeth   +5 more
wiley   +1 more source

Efferent auditory system: its effect on auditory processing

Brazilian Journal of Otorhinolaryngology, 2008
Summary: Auditory processing depends on afferent and efferent auditory pathways integrity. The efferent auditory system may be assessed in humans by two non-invasive and objective methods: acoustic reflex and otoacoustic emissions suppression.
Fernanda Acaui Ribeiro Burguetti, Renata Mota Mamede Carvallo   +1 more
doaj   +1 more source