Results 61 to 70 of about 2,496 (177)

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 196, Issue 4, December 2024.
Abstract Marfanoid habitus and intellectual disability (MHID) co‐occur in multiple neurodevelopmental disorders (NDD). Among those, Lujan‐Fryns, an X‐linked genetic disorder associated with variants in MED12 was the first such syndrome identified. Accurate molecular diagnosis for these MHID syndromes remains a challenge due to significant clinical and ...
Henri Margot, Adrien Pizano, Anouck Amestoy, Didier Lacombe, Camille Berges, Claire Beneteau, A. Micheil Innes   +6 more
wiley   +1 more source

Chemical analysis and concentrations of cannabidiol substances used for refractory epilepsy in Chilean patients. An underestimated worldwide risk

Epilepsia Open, Volume 9, Issue 6, Page 2546-2552, December 2024.
Abstract Objective The purpose of this study is to analyze composition of HMS (homemade CBD), NLS (non‐licensed commercial products), and bioequivalent CBD (BES) collected from Chilean patients that voluntary accepted to analyze the “CBD‐substance.” Methods Samples were collected through an open invitation for different patients to anonymously and free
Loreto Ríos‐Pohl, Macarena Franco, Daniel Navea, Viviana Venegas, Tomás Cerda   +4 more
wiley   +1 more source

Takotsubo cardiomyopathy in a young women after cosmetic laser treatment for facial mole removal

Journal of Medical Sciences, 2018
Takotsubo cardiomyopathy (TCM), also known as stress cardiomyopathy, is a type of nonischemic cardiomyopathy, in which there is a sudden temporary weakening of the muscular portion of the heart.
Peng Po-Sen, Liu Kai-Hsi, Lin Wei-Shiang
doaj   +1 more source

The clinical signifi cance of urethral sphincter hyperkinesis in the treatment of benign prosta???? c hyperplasia

Вестник урологии, 2019
Introduction. Today there is many highly effective surgical approaches in the treatment of benign prostatic hyperplasia (BPH). New technologies in the treatment of BPH continue to be implemented.
I. I. Belousov
doaj   +1 more source

Broken heart syndrome or takotsubo cardiomyopathy

Терапевтический архив, 2010
Takotsubo cardiomyopathy is an acute cardiac syndrome that mimics ST segment elevation myocardial infarction. It is characterized by transient local contractility disturbances as akinesis of the apical and middle segments of the left ventricle concurrent
Dmitriy Vol'fovich Pevzner, Dariga Akasheva, Nataliya Semenovna Zhukova, Ol'ga Vladimirovna Stukalova, Viktor Nikolaevich Shitov, Mikhail Yakovlevich Ruda, D V Pevzner, D U Akasheva, N S Zhukova, O V Stukalova, V N Shitov, M Ya Ruda   +11 more
doaj  

A Case of Takotsubo Cardiomyopathy after Surgery for Common Bile Duct Stones

Case Reports in Gastroenterology, 2008
Takotsubo cardiomyopathy (TC) is a rare reversible circulatory syndrome often detected in elderly patients after general surgery. We report the case of an 85-year-old woman who was admitted for obstructive jaundice and underwent ERCP and ENBD before ...
Masayuki Tori, Shigeyuki Ueshima, Masaaki Nakahara   +2 more
doaj   +1 more source

Spastic Paresis: A Treatable Movement Disorder

Movement Disorders, Volume 40, Issue 1, Page 44-50, January 2025.
Jean‐Michel Gracies, Katharine E. Alter, Bo Biering‐Sørensen, Julius P.A. Dewald, Dirk Dressler, Alberto Esquenazi, Jorge Hernandez Franco, Robert Jech, Ryuji Kaji, Lingjing Jin, Erle C.H. Lim, Preeti Raghavan, Raymond Rosales, Ali S. Shalash, David M. Simpson, Areerat Suputtitada, Michele Vecchio, Jörg Wissel, for the Spasticity Study Group of the International Parkinson and Movement Disorders Society, Katharine Alter, Bo Biering‐Sørensen, Tae Mo Chung, Julius PA Dewald, Dirk Dressler, Alberto Esquenazi, Jean‐Michel Gracies, Jorge Hernandez Franco, Robert Jech, Ryuji Kaji, Lingjing Jin, Leonard Li, Erle Chuen‐Hian Lim, Preeti Raghavan, Raymond Rosales, John Rothwell, Ali Soliman Shalash, Areerat Suputtitada, David Martin Simpson, Jörg Wissel, Kenny Wong, Maximo Zimerman   +40 more
wiley   +1 more source

Diencephalic syndrome as presentation of giant childhood craniopharyngioma: Management review

Journal of Pediatric Neurosciences, 2018
Diencephalic syndrome (DES) is an extremely uncommon occurrence, and approximately 100 cases have been reported. It presents as a failure to thrive in infants and children but rarely occurs in adult population. The characteristic clinical features of DES
Guru D Satyarthee, Harshad Chipde
doaj   +1 more source

To the study of hyperkinesis

Kazan medical journal, 1930
Society of Neuropathologists and Psychiatrists at Kazan State University. Meeting on May 28, 1930, dedicated to the memory of Prof. A. V. Favorsky I. Rusetsky. To the study of hyperkinesis. From the available classifications of hyperkinesis, the speaker accepts the following: 1) trembling hyperkinesis, 2) myoclonic, 3) systematized rhythmic ...
openaire   +1 more source

Vascular origin hemiballismus: A clinic case and literature review

Acta Neurológica Colombiana
Introduction: Post-stroke movement disorders (PSMD) represent an important proportion of secondary movement disorders. Although extrapyramidal structures are frequently affected by stroke, the incidence of post-stroke movement disorders is relatively ...
Andrés Mauricio Betancourt Ayala, Jorge Andrés Cortés Arévalo, Angélica del Rosario Burgos Rojas, Andrés Mauricio Espejo Redondo   +3 more
doaj   +1 more source