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JOURNAL ARTICLE
Cooper Nickels, Christy Keyes, Caroline Astemborski, Haley Fulton
UNLABELLED: The chief complaint of vertiginous symptoms can be daunting, and the differential is quite long. Approximately 15% of patients presenting to the emergency department (ED) with dizziness have a dangerous underlying cause.1 We present a case of a 40-year-old female with a sudden onset of what she describes as vertigo, in the setting of intermittent diplopia. The patient was found to have a left medial rectus palsy consistent with a left internuclear ophthalmoplegia. Internuclear ophthalmoplegia (INO) is an abnormal gaze that is characterized by the weakness or inability to adduct the affected eye...
January 2024: Journal of education & teaching in emergency medicine
#22
REVIEW
Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D'Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali
Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG46 is a rare, early-onset and autosomal recessive HSP, linked to biallelic GBA2 mutations. About thirty families have been described worldwide, with different phenotypes like complicated HSP, recessive cerebellar ataxia or Marinesco-Sjögren Syndrome. Herein, we report five SPG46 patients harbouring five novel GBA2 mutations, the largest series described in Italy so far...
February 9, 2024: Neurogenetics
#23
Amal Al-Lozi, Euna B Koo
Antielevation syndrome is commonly described following anteriorization of the inferior oblique muscle. A similar phenomenon may occur following inferior oblique muscle recession, creating a distinct strabismus pattern in the setting of cranial trochlear nerve palsy. We report 3 adult patients, 69-72 years of age, who presented at the Stanford Byers Eye Institute with a similar strabismus pattern-limited elevation in abduction following previous inferior oblique muscle recession for congenital/long-standing trochlear nerve palsy...
January 24, 2024: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
#24
Rebika Dhiman, Lavanya Gandepalli, Aishwarya Rathod, Shruti Badkhane, Swati Phuljhele, Rohit Saxena
No abstract text is available yet for this article.
January 23, 2024: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
#25
REVIEW
Oskar McWilliam, Mathias H Gramkow, Morten Blaabjerg, Frederikke Kragh Clemmensen, Steen G Hasselbalch, Kristian Steen Frederiksen
BACKGROUND: Anti-IgLON5 disease is a rare but potentially reversible cause of cognitive impairment, sleep disturbances, dysautonomia, and movement disorders. It is an autoimmune encephalitis which, due to its insidious onset, could mimic neurodegenerative disorders, and multiple symptoms overlap with those seen in dementia with Lewy bodies (DLB). We hypothesized that the symptomatology and findings in patients with anti-IgLON5 disease overlapped with that of DLB. OBJECTIVES: To assess the commonality of features in anti-IgLON5 disease and DLB and identify potential red flags for anti-IgLON5 disease in patients undergoing diagnostic evaluation for DLB...
January 9, 2024: Journal of Neurology
#26
Ryoma Inui, Takeshi Yoshimoto, Hiroyuki Ishiyama, Shinichi Kurashima, Shoko Nakagawa, Takeshi Kitai, Chisato Izumi, Masafumi Ihara
UNLABELLED: Cardioembolism associated with atrial fibrillation is a major cause of ischemic stroke. Left atrial appendage occlusion in atrial fibrillation patients undergoing cardiac surgery reduces the risk of postoperative stroke. A 78-year-old man with a history of atrial fibrillation and severe mitral regurgitation underwent thoracoscopic mitral valve repair with left atrial appendage clipping and the cryo-maze procedure 4 years previously. He was taking a direct oral anticoagulant for stroke prevention because his atrial fibrillation had recurred...
January 2024: Journal of Cardiology Cases
#27
MULTICENTER STUDY
Jan Kern, Judith Böhringer, Dagmar Timmann, Regina Trollmann, Claudia Stendel, Cristoph Kamm, Markus Röbl, Vidiyaah Santhanakumaran, Samuel Groeschel, Stefanie Beck-Wödl, Sophia Göricke, Ingeborg Krägeloh-Mann, Matthis Synofzik
BACKGROUND AND OBJECTIVES: GM2 gangliosidoses, a group of autosomal-recessive neurodegenerative lysosomal storage disorders, result from β-hexosaminidase (HEX) deficiency with GM2 ganglioside as its main substrate. Historically, GM2 gangliosidoses have been classified into infantile, juvenile, and late-onset forms. With disease-modifying treatment trials now on the horizon, a more fine-grained understanding of the disease course is needed. METHODS: We aimed to map and stratify the clinical course of GM2 gangliosidoses in a multicenter cohort of pediatric and adult patients...
January 9, 2024: Neurology
#28
JOURNAL ARTICLE
Sergio Rodriguez-Quiroga
No abstract text is available yet for this article.
March 2024: Parkinsonism & related Disorders
#29
JOURNAL ARTICLE
Tom Griffiths, Michael T Clarke, John Swettenham
PURPOSE: Little is known about how children learn to control eye-gaze technology, and clinicians lack information to guide decision-making. This paper examines whether typically developing 2-3 year olds can infer for themselves the causal mechanisms by which eye-gaze technology is controlled, whether a teaching intervention based on causal language improves performance and how their performance compares to the same task accessed via a touchscreen. Methods and materials: Typically developing children's (n = 9, Mean Age 28...
December 19, 2023: Disability and Rehabilitation. Assistive Technology
#30
JOURNAL ARTICLE
Ikuko Aiba, Yuichi Hayashi, Takayoshi Shimohata, Mari Yoshida, Yuko Saito, Koichi Wakabayashi, Takashi Komori, Masato Hasegawa, Takeshi Ikeuchi, Aya M Tokumaru, Keita Sakurai, Shigeo Murayama, Kazuko Hasegawa, Toshiki Uchihara, Yasuko Toyoshima, Yufuko Saito, Ichiro Yabe, Satoshi Tanikawa, Keizo Sugaya, Kentaro Hayashi, Terunori Sano, Masaki Takao, Motoko Sakai, Harutoshi Fujimura, Hiroshi Takigawa, Tadashi Adachi, Ritsuko Hanajima, Osamu Yokota, Tomoko Miki, Yasushi Iwasaki, Michio Kobayashi, Nobutaka Arai, Takuya Ohkubo, Takanori Yokota, Keiko Mori, Masumi Ito, Chiho Ishida, Masaharu Tanaka, Jiro Idezuka, Masato Kanazawa, Kenju Aoki, Masashi Aoki, Takafumi Hasegawa, Hirohisa Watanabe, Atsushi Hashizume, Hisayoshi Niwa, Keizo Yasui, Keita Ito, Yukihiko Washimi, Eiichiro Mukai, Akatsuki Kubota, Tatsushi Toda, Kenji Nakashima
The clinical presentation of corticobasal degeneration is diverse, while the background pathology of corticobasal syndrome is also heterogeneous. Therefore, predicting the pathological background of corticobasal syndrome is extremely difficult. Herein, we investigated the clinical findings and course in patients with pathologically, genetically and biochemically verified corticobasal degeneration and corticobasal syndrome with background pathology to determine findings suggestive of background disorder. Thirty-two patients were identified as having corticobasal degeneration...
2023: Brain communications
#31
Justin Sardi, Alexander Chavez-Yenter, Linda C Wendell, J Pierre Sasson, Monica J Wood
Retro-ondontoid pseudotumors represent soft tissue proliferation surrounding the transverse ligament of the atlas, which most commonly results in cervical neck pain or myelopathy due to impingement upon the cervicomedullary junction. The causes of retro-odontoid pseudotumor formation are varied and include metabolic, inflammatory, degenerative, and post-traumatic etiologies. To the best of our knowledge, an abducens nerve palsy as a result of a complex retro-odontoid pseudotumor has never been reported. We discuss a case of a 90-year-old woman who presents with acute lateral gaze palsy with multimodality imaging demonstrating a retro-odontoid pseudotumor with an unusual protrusion which courses superolaterally to the level of the pons and compresses the abducens nerve root entry zone...
January 2024: Radiology Case Reports
#32
Vivek Batheja, Morgan Fish, Aneri B Balar, Jeffery P Hogg, Dhairya A Lakhani, Musharaf Khan
Atypical Parkinsonian syndromes are a subset of progressive neurodegenerative disorders that present with signs of Parkinson's disease. However, due to multisystem degeneration, the atypical Parkinsonian syndromes have additional symptoms that are often referred to as Parkinson-plus syndromes. The most well-studied subsets include progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and Lewy body dementia. Specifically, progressive supranuclear palsy is a tauopathy neurodegenerative disorder that presents with parkinsonism symptoms along with postural instability, vertical saccade, and vertical gaze palsy...
January 2024: Radiology Case Reports
#33
Saad Asbeutah, Galina Ponomareva, Meron Molla, Shruti Shah
Progressive supranuclear palsy (PSP) is a neurodegenerative condition that typically emerges in adulthood and does not exhibit any familial inheritance pattern. PSP is characterized by gradual stiffness in the central body, an inability to move the gaze upward voluntarily, postural instability, and a decline in cognitive function linked to frontal lobe dysfunction. Clinical assessment reveals a variety of findings, and cases of PSP frequently go unnoticed or are incorrectly diagnosed as other conditions. Notably, prominent neurotransmitter-related changes in PSP involve damage to the dopaminergic nigrostriatal pathway and cholinergic impairment in multiple regions...
October 2023: Curēus
#34
Mohammad Umair Sarwar, Muhammad Furrukh, Mohammad Ali Tabrez, Aqil Kannar, Muhammad Ali Sumbal, Muhammad Haseeb
Eagle's syndrome is characterised by elongation of the styloid process. The elongated styloid process can cause symptoms like dysphagia, facial or neck pain, syncope, visual changes, etc. In severe cases, it may cause a rupture or dissection of the carotid artery, which can lead to intracranial thrombo-embolism and ischemic stroke. We report a case of a 57-year-old male presenting with dysarthria and mild left-sided body weakness. An initial non-contrast computed tomography (CT) scan showed a possible right internal carotid artery thrombus...
October 2023: Curēus
#35
Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D'Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders. Recently, the association with dominant demyelinating neuropathy, classified as Charcot-Marie-Tooth syndrome type 1I (CMT1I), has been reported as well. Here we report on an additional patient presenting with developmental delay and generalized epilepsy, followed by the onset of mild pyramidal and cerebellar signs, vertical gaze palsy and subclinical demyelinating polyneuropathy...
November 8, 2023: Brain Sciences
#36
Matej Perovnik, Janja Pretnar Oblak, Senta Frol
Here, we present a case series of four patients diagnosed with acute ischaemic stroke due to occlusion of the artery of Percheron (AOP), a rare stroke variant, observed in a single emergency centre within a three-month period. AOP occlusion is characterized by bilateral thalamic infarction with or without involvement of the mesencephalon. The presenting symptoms are diverse and not specific, but commonly include disturbance of consciousness, memory impairment, and vertical gaze palsy. In addition, due to the location of the infarction, imaging recognition is challenging and AOP occlusion often remains undiagnosed...
November 2, 2023: Neurology International
#37
JOURNAL ARTICLE
Mohammad Reza Akbari, Masoud Khorrami-Nejad, Yasr Adil Shakor, Farzaneh Dehghanian Nasrabadi, Haleh Kangari, Hamid Dalvand
PURPOSE: To determine the frequency and manifestations of different ocular causes of abnormal head posture (AHP). METHOD: This prospective, consecutive case series study was performed on 149 patients with ocular AHP at Farabi hospital, Iran, from February 2020 to June 2021. All patients underwent routine ophthalmic examinations. The manifestation of AHP was determined by direct observation from three viewing angles, while the patient read the smallest line on the vision chart that they could see...
November 20, 2023: Journal of Binocular Vision and Ocular Motility
#38
Michail Papantoniou, Georgia Panagou, Maria Gryllia
Peduncular hallucinosis refers to a rare neurophychiatric disorder presenting with vivid visual hallucinations, disturbances of sleep, and oculomotor dysfunction. It is typically caused by mesencephalic lesions. Nonetheless, a few cases have also been reported, in which the same syndrome was associated with thalamic and pontine lesions. We report the case of a 63-year-old male patient presenting to the Emergency Department of our hospital with irritability, gait difficulty, and diplopia of sudden onset two hours ago...
November 14, 2023: Psychiatrikē, Psychiatriki
#39
JOURNAL ARTICLE
Nedim Leto, Conrad Arnfinn Bjørshol, Martin Kurz, Øyvind Østerås, Annette Fromm, Thomas Werner Lindner
BACKGROUND: In 2019, the emergency medical services (EMS) covering the western Norway Regional Health Authority area implemented its version of the prehospital clinical criteria G-FAST (Gaze deviation, Facial palsy, Arm weakness, Visual loss, Speech disturbance) to detect acute ischaemic stroke (AIS) with large vessel occlusion (LVO). For patients with gaze deviation and at least one other G-FAST symptom, a primary stroke centre (PSC) may be bypassed and the patient taken directly to a comprehensive stroke centre (CSC) for rapid endovascular treatment (EVT) evaluation...
November 15, 2023: Emergency Medicine Journal: EMJ
#40
K V P Munasinghe, W A D J J Herath, F H D S Silva
A 41-year-old male with recently diagnosed diabetes mellitus type 2 presented with drooping of the left eyelid with double vision and was found to have an adduction deficit in the left eye and nystagmus in the abducting right eye during conjugated gaze: a left-sided internuclear ophthalmoplegia (INO). A medial longitudinal fasciculus (MLF) lesion was excluded exhaustively with brain imaging. The possibility of a pseudo-INO was considered. The autoantibody profile demonstrated positivity to acetylcholine receptor (AChR) antibody...
October 2023: Curēus
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