Results 81 to 90 of about 7,423 (270)

White sponge nevus in a patient with EEC syndrome

Dermatology Online Journal, 2010
A 10-year-old boy, affected by cleft lip and palate and the Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome, presented with hypodontia, microdontia, enamel hypoplasia and caries, as well as white macules and plaques on the buccal mucosa bilaterally.
Dalben, Gisele Silva, Cursino, Helize A, Barbosa, Bruno A, Costa, Beatriz, Consolaro, Alberto   +4 more
openaire   +4 more sources

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Low Incidence of Relapses After Vaccination in Anti‐Aquaporin‐4 Antibody‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Patients with neuromyelitis optica spectrum disorder (NMOSD) may experience increased signs and symptoms of their underlying disease when vaccinated against meningococcal disease before receiving complement component 5 inhibitor therapies. This retrospective analysis indicated an overall low relapse incidence (mean [range], 3.3% [0.7%–10.6 ...
Sean J. Pittock, Jin Nakahara, Becky Parks, Kerstin Allen, Sami Fam   +4 more
wiley   +1 more source

Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants

Clinical Case Reports, 2021
In cases of fetal hydrops, searching for an etiology is essential to evaluate the fetal prognosis and propose the most appropriate management.
Yannick Hurni, Martina Marangoni, Giulia Garofalo, Marie Cassart, Lisa Tomasi, Isabelle Vandernoot, Guillaume Smits, Caroline Gounongbé   +7 more
doaj   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

, 2001
Item does not contain fulltextp63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis in a
Neri, Giovanni, Janecke, Andreas, Vanmolkot, K.R., Kayserili, H., Duijf, Pascal H.G., Kayserili, Hülya, Vanmolkot, Kaate R. J., Verloes, Alain, Chitayat, D., Duijf, Pascal H. G., Newbury-Ecob, R., Chitayat, David, Vanmolkot, KRJ, Beemer, F.A., Chitayat, D, Verloes, A, Beusekom, E. van, Bokhoven, J.H.L.M. van, Duijf, P.H., Raas-Rotschild, Annick, van Beersum, SEC, Brunner, Han G., Yates, John R.W., Fryns, JP, Sangiorgi, E, Beersum, S.E.C. van, Bamshad, M., Raas-Rotschild, A, Brunner, H.G., Majewski, F, Verloes, A., van Beusekom, E, Crisponi, G, Bamshad, Mike, Gurrieri, F., Tenconi, R, Brunner, HG, Raas-Rotschild, A., Neri, G, Crisponi, G., Merkx, Gerard F. M., Fryns, J.P., Hamel, Ben C. J., van Beersum, Sylvia E. C., Celli, J., Crisponi, Giangiorgio, Kayserili, H, van Bokhoven, H, Janecke, A, Yates, J.R.W., Janecke, A.R., Duijf, PHG, Yates, John R. W., Tenconi, Romano, van Beersum, Sylvia E.C., Merkx, GFM, Hamel, B.C.J., Merkx, Gerard F.M., Majewski, F., Sangiorgi, E., Tenconi, R., Hamel, Ben C.J., Gurrieri, Fiorella, Bamshad, M, Neri, G., Newbury-Ecob, RA, Merkx, G.F.M., Beemer, FA, Van Bokhoven, Hans, Hamel, BCJ, Newbury-Ecob, Ruth A., Majewski, Frank, Yates, JRW, Celli, Jacopo, Gurrieri, F, Vanmolkot, Kaate R.J., Fryns, Jean Pierre, Beemer, Frits A., Sangiorgi, Eugenio, van Beusekom, Ellen, Celli, J   +80 more
core   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature Review

The Pan-American Journal of Ophthalmology, 2017
The purpose of this study was to report the ocular findings in an unusual case of ectrodactylyectodermal dysplasia-clefting (EEC) syndrome and review the etiology and clinical presentation of similar situations in the literature.
Sonia Parreira, Diana Silva, Michele Farah, Vera Lucia Mascaro   +3 more
doaj   +3 more sources

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