Results 211 to 220 of about 1,622,414 (348)

Mastering the Dilemma of Rare Diseases [PDF]

, 2007
A. Kohlschuetter
openalex   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

Information content as a health system screening tool for rare diseases. [PDF]

NPJ Digit Med
Groza T, Robinson PN, Lim WK, Narasimhalu K, Hsieh J, Yeo KK, Keow GB, Thomas T, Wong TY, Karnani N, Baynam G, Jamuar SS.   +11 more
europepmc   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

SHARE: towards usable, trustworthy and interoperable synthetic health data for rare diseases. [PDF]

BMJ Health Care Inform
Noll R, Koch P, Langenberger B, Stoffers PC, Biller R, Goldschmidt A, Mohammadi S, Zoch M, Gan G, Szilagyi B, Truong NDK, Röttger R, Rabinovitch G, Ekelhart A, Martinez-Duarte D, Mayer R, Storf H, Schaaf J.   +17 more
europepmc   +1 more source

A very rare case of encephalopathy in a patient with end-stage renal disease: contrast agent, ioversol [PDF]

, 2010
Rüya Özelsancak, Ertuğrul Erken, İsmail Yıldız, Semih Gıray, Tülin Yıldırım, Hasan Mıcozkadıoğlu   +5 more
openalex   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Patient passports for rare diseases: results of a pilot study. [PDF]

Eur J Hum Genet
Balfour J, Morrison V, Seed L, Clymer J, Warnants E, Lampkin A, Leiter SM, Chandratillake G.   +7 more
europepmc   +1 more source

Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow, Nicola McKern, Vincent Oxenham, Kate Ahmad, Omar Ahmad   +4 more
wiley   +1 more source

Rare diseases load through the study of a regional population. [PDF]

PLoS Genet
Michel É, Moreau C, Gagnon L, Gagnon M, Leblanc J, Tardif J, Girard L, Mathieu J, Gagnon C, Desmeules M, Brisson JD, Bouchard L, Girard SL.   +12 more
europepmc   +1 more source