Results 81 to 90 of about 19,794 (219)

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

Clinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, Beatriz Menendez, Philip Giampietro, Ingrid M. Wentzensen, Tzung‐Chien Hsieh, Shu‐ou Shan, Gholson J. Lyon   +10 more
wiley   +1 more source

Clinical, radiologic, pathologic, and molecular characteristics of long-term survivors of diffuse intrinsic pontine glioma (DIPG): a collaborative report from the International and European Society for Pediatric Oncology DIPG registries [PDF]

, 2018
Purpose Diffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with a median survival of < 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, and ...
Antonelli, Manila, Antonelli, Manila, Bailey, Simon, Bartels, Ute, Baugh, Joshua, Benesch, Martin, Biassoni, Veronica, Bison, Brigitte, Boddaert, Nathalie, Bouffet, Eric, Broniscer, Alberto, Broxson, Emmett, Calmon, Raphael, Castel, David, Chaney, Brooklyn, Chintagumpala, Murali, Colditz, Niclas, Comito, Melanie, Dholaria, Hetal, Doughman, Renee, Drissi, Rachid, Foreman, Nicholas K., Fouladi, Maryam, Fuller, Christine, Gerber, Nicolas U., Giagnacovo, Marzia, Gielen, Gerrit H., Giraud, G´eraldine, Goldman, Stewart, Gottardo, Nicholas, Grill, Jacques, Grotzer, Michael A., Hargrave, Darren, Hassall, Timothy, Hawkins, Cynthia, Hoffman, Lindsey M., Hoffmann, Marion, Hulleman, Esther, Jabado, Nada, Jadrijevic Cvrlje, Filip, Jones, Blaise, Jones, Chris, Jones, David T. W., Kaspers, Gertjan J. L., Khatua, Soumen, Kieran, Mark W., Kramm, Christof M., Lane, Adam, Leach, James, Leary, Sarah, Massimino, Maura, Miles, Lili, Minturn, Jane, Modena, Piergiorgio, Nazarian, Javad, Packer, Roger, Pfaff, Elke, Pfister, Stefan M., Pietsch, Torsten, Puget, Stephanie, Sanchez, Esther, Shih, Chie-Schin, Solanki, Guirish A., Sophie Carret, Anne, Sturm, Dominik, van Vuurden, Dannis G., Vandertop, William P., Varlet, Pascale, Veldhuijzen van Zanten, Sophie E. M., von Bueren, Andr´e O., Warmuth-Metz, Monika, Warren, Katherine E., Yanez Escorza, Nancy, Ziegler, David S.   +73 more
core   +4 more sources

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Clinical Genetics, EarlyView.
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Reihaneh Khorasanian, Mariasavina Severino, Morteza Doustmohammadi, Francesca Madia, Siddharth Srivastava, Aisling Quinlan, Dario Paladini, Federico Zara, Marcello Scala   +11 more
wiley   +1 more source

Psychosocial effects of intraocular surgery in an Ophthalmology Unit

Revista de Ciencias Médicas de Pinar del Río, 2019
Introduction: as a result of the high incidence of low vision, as well as its negative consequences in the biological, psychological and social spheres, the authors take into account the insufficiency of interdisciplinary studies that collect the ...
Clara Yurina Núñez Castillo, Alexander Quinzan King, Reinaldo Néstor Cueto Marín, Wilmer Valle Castañeda   +3 more
doaj  

Chronic lymphocytic leukemia and the central nervous system: a clinical and pathological study. [PDF]

, 1996
Chronic lymphocytic leukemia is the most common human leukemia but infrequently causes neurologic symptoms. We have reviewed all previously reported cases of chronic lymphocytic leukemia in the CNS along with three new cases; one patient was diagnosed ...
Cramer, SC, Efird, JT, Glaspy, JA, Louis, DN   +3 more
core   +2 more sources

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Atypical spasmus nutans as an initial sign of thalamic neoplasm. [PDF]

, 1986
A patient is described who presented with dissociated nystagmus (atypical spasmus nutans) and an underlying pulvinar-tectal lesion.
Baram, TZ, Tang, R
core  

Functional Convergence Spasm and Dysconjugate Eye Movements: A Vignette

Movement Disorders Clinical Practice, EarlyView.
Iryna Klopotovska, Koemi‐Jade Garrick, Diego Kaski   +2 more
wiley   +1 more source

Fatal spinal cord compression in a horse with chronic actinobacterial cranial nuchal bursitis

Equine Veterinary Education, EarlyView.
Summary A 14‐year‐old warmblood gelding was managed for waxing and waning cranial nuchal bursitis for 2 years. Intensive medical and surgical management was not curative, and the patient was subjected to euthanasia after becoming acutely recumbent. Ante‐mortem and post‐mortem next generation sequencing of bursal tissue and post‐mortem conventional PCR ...
H. Mesch, C. Frank, J. B. Daniels, E. Acutt, E. Contino   +4 more
wiley   +1 more source