Results 41 to 50 of about 74,410 (305)

Nystagmus intensity and direction in bow and lean test: an aid to diagnosis of lateral semicircular canal benign paroxysmal positional vertigo

Acta otorhinolaryngologica italica, 2016
SUMMARY The objective was to evaluate nystagmus intensity and direction (NID) during bow and lean test (BLT) in subjects suffering from idiopathic lateral semicircular canal benign paroxysmal positional vertigo (LSC-BPPV), in order to differentiate ...
V. Marcelli, Riassunto L
semanticscholar   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Latent Nystagmus [PDF]

Archives of Ophthalmology, 2004
Latent nystagmus is a horizontal binocular oscillation that is evoked by unequal visual input to the 2 eyes. It develops primarily in humans with congenital esotropia.To investigate the interrelationship between latent and peripheral vestibular nystagmus and their corollary neuroanatomical pathways.Examination of subcortical neuroanatomical pathways ...
Ronald J. Tusa, Michael C. Brodsky
openaire   +3 more sources

Light cupula: the pathophysiological basis of persistent geotropic positional nystagmus

BMJ Open, 2015
Objective To clarify the pathophysiological basis of persistent geotropic positional nystagmus (PGN) in patients with the horizontal canal type of benign paroxysmal positional vertigo (H-BPPV), the time constant (TC) of nystagmus and the relationship ...
T. Imai, Kazunori Matsuda, N. Takeda, A. Uno, T. Kitahara, A. Horii, S. Nishiike, H. Inohara   +7 more
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Clinical Assessment of the Nystagmus Fixation Suppression Test: An Experimental Study

Journal of International Advanced Otology
BACKGROUND: Assessment of nystagmus fixation suppression can be used as an additional diagnostic tool for patients with an acute vestibular syndrome to distinguish between a central or peripheral cause. We investigated the ability of physicians to detect
Stefanie Siegrist, Thomas Wyss, Athanasia Korda, Georgios Mantokoudis   +3 more
doaj   +1 more source

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus

Scientific Reports, 2015
The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus and macular hypoplasia together with normally pigmented skin and hair.
Ruifang Han, Xiaojuan Wang, Dongjie Wang, Liming Wang, Zhongfang Yuan, M. Ying, Ning-dong Li   +6 more
semanticscholar   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

New Fresnel lens loupe for nystagmus observation suitable for use by medical staff in emergency departments

International Journal of Emergency Medicine
Background Reduction of spontaneous nystagmus by fixation, a characteristic feature of peripheral nystagmus, is important for differentiating between peripheral and central vestibular disorders.
Reiko Tsunoda, Yumi Dobashi, Masao Noda, Hiroaki Fushiki   +3 more
doaj   +1 more source