Results 161 to 170 of about 66,364 (302)

Midbrain Malformation Presenting With Hypogonadism and Short Stature. [PDF]

JCEM Case Rep
Sai Ramya V, Aleem S, Guddeti A, Hari Kumar KVS.   +3 more
europepmc   +1 more source

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. [PDF]

Front Neurol
Yigit A, Akgun-Dogan O, Ozkeserli Z, Bayram Akcapınar G, Ayta S, Gencpinar P, Maras Genc H, Kutlubay B, Kara B, Sozen HG, Agaoglu NB, Ozdemir O, Bilguvar K, Ozbek U.   +13 more
europepmc   +1 more source

Analysis of the usefulness and benefits of ultrafiltration in cardiorenal syndrome: A systematic review

ESC Heart Failure, Volume 12, Issue 2, Page 1194-1202, April 2025.
Abstract Aims Cardiac decompensation in cardiorenal syndrome (CRS) results in systemic congestion usually treated with diuretics. When despite high doses of diuretics, response is poor, ultrafiltration (UF) appears to be a useful and safe technique.
Borja Guerrero Cervera, Raquel López‐Vilella, Víctor Donoso Trenado, María Peris‐Fernández, Paula Carmona, Amparo Soldevila, Sergi Tormo, Ramón Devesa, María Jesús Montero Hernández, Luis Martínez Dolz, Julio Hernández Jaras, Pilar Sánchez‐Pérez, Luis Almenar‐Bonet   +12 more
wiley   +1 more source

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins. [PDF]

Cureus
Swaroop S, Dasgupta S, Srivastava P, Jain SD, Nag DS, Tanti SK.   +5 more
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report. [PDF]

Prenat Diagn
Fukumori F, Maeda Y, Maki K, Takenouchi T, Kosaki K, Funato H, Kondo E, Ikeda T.   +7 more
europepmc   +1 more source

Activity of the right cardiac ventricle and metabolism in healthy persons during an orthostatic test after short term immobilization [PDF]

A 15 minute orthostatic test was performed on healthy male volunteers under conditions of catheterization of the right ventricle of the heart and the radial (or brachial) artery before and after 5 day bedrest in an antiorthostatic position of the body ...
Chestukhin, V. V., Georgiyevskiy, V. S., Katkov, V. Y., Mikhaylov, V. M., Seid-Gusaynov, A. A., Shalnev, B. I., Utkin, V. N., Zybin, O. K.   +7 more
core   +1 more source

Mixed Movement Disorder Caused by <i>ADCY5</i> Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine. [PDF]

Case Rep Neurol Med
Tsoma E, Studeniak T, Jech R, Zech M, Havrankova P, Růžička E, Kunc L, Chomolyak Y.   +7 more
europepmc   +1 more source