Results 41 to 50 of about 20,251 (253)

Cardiovascular changes after administration of aerosolized salbutamol in horses: five cases [PDF]

, 2014
Prevention and treatment of intraoperative hypoxemia in horses is difficult and both efficacy and safety of therapeutic maneuvers have to be taken into account.
AE Wagner, Chiara Adami, Claudia Spadavecchia, Daniela Casoni, E Spiekerkoetter, EM Kallergis, FJ Derksen, G Nyman, G Nyman, G Nyman, H-M Palos, J Horn, JG Baker, JR Dodam, K Toerneke, K Toerneke, KJ Whitehair, KJ Whitehair, L Devisscher, M Patschova, MA Gaballa, MR Bristow, OE Brodde, SA Robertson, YH Lee   +24 more
core   +5 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Bulbar infarction with upbeat nystagmus as the main sign: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
DOI:10.3969/j.issn.1672⁃6731.2020.11 ...
Lei ZHAO, Jing WU, Chun⁃yan JIANG, You⁃rong DONG, Wei CHEN, Jian⁃ren LIU   +5 more
doaj  

Pathological and non-pathological irregularities of nystagmus.

Collegium antropologicum, 2014
Irregularities of nystagmus can be found almost in every electronystagmographic record, but only a few are pathological. In this investigation, the authors try to define the border line between pathological and nonpathological irregularities of nystagmus and according to this measure the diagnostic use of findings of irregularities of nystagmus.
Starčević, Radan, Velepič, Marko, Bonifačić, David   +2 more
openaire   +5 more sources

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

UNERTAN SYNDROME: A CASE SERIES DEMONSTRATING HUMAN DEVOLUTION [PDF]

, 2007
A large family with six individuals exhibiting the Unertan syndrome (UTS)was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities.
Karaca, Dr. Sibel, Tan, Dr. Meliha, Tan, Prof. Dr. Uner   +2 more
core  

Magnetic resonance imaging in the assessment of brain involvement in alcoholic and nonalcoholic Wernicke's encephalopathy [PDF]

, 2017
To present the typical and atypical magnetic resonance (MR) imaging findings of alcoholic and non-alcoholic Wernicke's ...
AGNELLO, Francesco, ANASTASI, Andrea, Banco, A., SPARACIA, Gianvincenzo, SPECIALE, Claudia   +4 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]

, 1984
The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter, Kessler, C., Krause, Klaus-Henning, Reuther, R.   +3 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source