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Athena Huynh, Collin Pryma, Heather McPhaden, Karl-Christopher Yared, Yilin Zhang, Katie Beadon, Tony Ng, Luke Y C Chen
A 52-year-old woman with no significant medical history was referred to our hospital for expedited workup of progressive dysarthria and ataxia over the past year. Prior CT angiography of the head and neck showed no relevant neurologic findings but did reveal miliary lesions in the lung apices, which was later confirmed via dedicated CT chest scan (Fig 1). Review of systems was negative for any respiratory, constitutional, or rheumatologic symptoms, except for new xanthelasma-like lesions over her forehead. She previously had smoked with 20 pack-years and had no TB risk factors...
April 2024: Chest
#2
JOURNAL ARTICLE
Adriel Rêgo Barbosa, Marianna Pinheiro Moraes de Moraes, Thiago Yoshinaga Tonholo Silva, José Luiz Pedroso, Orlando Graziani Povoas Barsottini
We present a case study of a 24-year-old man who reported mild balance and walking difficulties for 2 years. He had a history of recurrent fever, skin lesions, headache, and elbow pain, but most of these events resolved spontaneously. There was no significant family history. On examination, we observed frontal bossing, sensorineural hearing loss, and gait ataxia. This case underscores the significance of identifying clinical indicators in patients with neurologic symptoms, particularly recurrent fever, to establish a precise and thorough differential diagnosis...
May 14, 2024: Neurology
#3
JOURNAL ARTICLE
Feifei Xu, Yu Wang, Wenjun Wang, Wenjia Liang, Yuchun Tang, Shuwei Liu
Preterm birth is associated with increased risk for a spectrum of neurodevelopmental disabilities. The cerebellum is implicated in a wide range of cognitive functions extending beyond sensorimotor control and plays an increasingly recognized role in brain development. Morphometric studies based on volume analyses have revealed impaired cerebellar development in preterm infants. However, the structural covariance between the cerebellum and cerebral cortex has not been studied during the neonatal period, and the extent to which structural covariance is affected by preterm birth remains unknown...
April 6, 2024: Cerebellum
#4
JOURNAL ARTICLE
P P Song, X L Zhang, X L Li, D Xu, J L Wang, M M Chu, M Y Wang, T M Jia, K X Du, Y Dong
Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
#5
JOURNAL ARTICLE
Jung Hwan Shin, Heejung Kim, So Yeon Lee, Won Tae Yoon, Sun-Won Park, Sangmin Park, Dallah Yoo, Jee-Young Lee
There is a clinically unmet need for a neuropsychological tool that reflects the pathophysiology of cognitive dysfunction in cerebellar degeneration. We investigated cognitive flexibility in degenerative cerebellar ataxia patients and aim to identify the pathophysiological correlates of cognitive dysfunction in relation to cerebellar cognitive circuits. We prospectively enrolled degenerative cerebellar ataxia patients with age-matched healthy controls who underwent 3 T 3D and resting-state functional MRI...
2024: Brain communications
#6
Akiko Uchino, Yuko Saito, Sho Tokuda, Yagishita Saburo, Shigeo Murayama, Kazuko Hasegawa
Methionine/valine (MV) 2 type of sporadic Creutzfeldt-Jakob (sCJD) is divided into three subtypes based on neuropathological criteria: MV2-kuru (MV2K), MV2-cortical (MV2C), and MV2K + C, exhibiting the co-occurrence of these two pathological features. We report an autopsy case of MV2K + C subtype of sCJD. A 46-year-old Japanese man began to make mistakes at work. Two months later, he gradually developed gait instability. The initial neurological examination revealed limb ataxia and myoclonus...
February 14, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
#7
Nooshin Zaresharifi, Elahe Abbaspour, Shahrokh Yousefzade-Chabok, Zoheir Reihanian, Paridokht Karimian, Sahand Karimzadhagh
INTRODUCTION AND IMPORTANCE: Medulloblastoma in adults is a rare and highly aggressive central nervous system (CNS) tumor, representing less than 1 % of all brain tumors. Supratentorial metastasis is uncommon, and extra-neural metastasis occurs in approximately 5 % of cases, primarily in frontal and temporal lobes. Here, we present an exceptional case of parietal lobe metastasis in an adult with desmoplastic/nodular medulloblastoma. To explore prior cases and establish the uniqueness of our case, we conducted a thorough search on the PubMed database...
January 27, 2024: International Journal of Surgery Case Reports
#8
JOURNAL ARTICLE
Namanpreet Kaur, Khyati Arora, Periyasamy Radhakrishnan, Dhanya Lakshmi Narayanan, Anju Shukla
Disease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A, MIM# 613,925, autosomal recessive), and megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B, MIM# 613,926, autosomal dominant). These disorders are characterised by macrocephaly, seizures, motor delay, cognitive impairment, ataxia, and spasticity. Brain magnetic resonance imaging (MRI) in these individuals shows swollen cerebral hemispheric white matter and subcortical cysts, mainly in the frontal and temporal regions...
January 27, 2024: Neurogenetics
#9
JOURNAL ARTICLE
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andrea Cortese
RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset...
January 9, 2024: Brain
#10
JOURNAL ARTICLE
Eline S Kruithof, Jana Klaus, Dennis J L G Schutter
It has recently been theorized that the frontal asymmetry of approach- and avoidance-related motivation is mirrored in the posterolateral cerebellum. Accordingly, left-to-right dominant cerebellar activity is associated with avoidance-related motivation, whereas right-to-left dominant cerebellar activity is associated with approach-related motivation. The aim of this study was to examine the cerebellar asymmetry of motivational direction in approach-related behavior in the context of aggression. In this randomized double-blind sham-controlled crossover study, thirty healthy right-handed adult volunteers received 2 mA active or sham left cathodal-right anodal transcranial direct current stimulation (tDCS) to the cerebellum on two separate occasions while engaging in the Point Subtraction Aggression Paradigm (PSAP) task to measure aggressive behavior...
January 4, 2024: Cerebellum
#11
JOURNAL ARTICLE
David Hessl, Karina Mandujano Rojas, Emilio Ferrer, Glenda Espinal, Jessica Famula, Andrea Schneider, Randi Hagerman, Flora Tassone, Susan M Rivera
BACKGROUND: Men with fragile X-associated tremor/ataxia syndrome (FXTAS) often develop executive dysfunction, characterized by disinhibition, frontal dyscontrol of movement, and working memory and attention changes. Although cross-sectional studies have suggested that earlier executive function changes may precede FXTAS, the lack of longitudinal studies has made it difficult to address this hypothesis. OBJECTIVE: To determine whether executive function deterioration experienced by premutation carriers (PC) in daily life precedes and predicts FXTAS...
December 20, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
#12
David Thomas, McKenzie E Maloney, Girindra Raval
Lung cancer is the third most common cancer in addition to being the cancer responsible for the most annual deaths in the United States, comprising 15% of all diagnosed cancers, and 28% of all cancer deaths in 2020. Major advances in survival are because of gene sequencing and the advent of targeted biological therapy. The prevalence of epidermal growth factor receptor (EGFR) mutations coexisting with anaplastic lymphoma kinase (ALK) rearrangements is quite low. However, the clinical relevance and effective treatment of these cancers require further investigation...
November 2023: Curēus
#13
REVIEW
Carlos Henrique F Camargo, Silvia Aparecida Ferreira-Peruzzo, Danieli Isabel Romanovitch Ribas, Gustavo L Franklin, Hélio A G Teive
Gait and balance difficulties pose significant clinical challenges in Parkinson's disease (PD). The impairment of physiological mechanisms responsible for maintaining natural orthostatism plays a central role in the pathophysiology of postural instability observed in PD. In addition to the well-known rigidity and abnormalities in muscles and joints, various brain regions involved in the regulation of posture, balance, and gait, such as the basal ganglia, cerebellum, and brainstem regions like the pontine peduncle nucleus, are affected in individuals with PD...
November 21, 2023: Neurological Sciences
#14
Junid A Naveed Ahmad, Brett A Schroeder, John Paul T Yun, David M Aboulafia
INTRODUCTION: Bing-Neel syndrome (BNS) is a rare and heterogenous manifestation of Waldenström macroglobulinemia (WM) involving central nervous system (CNS) infiltration by malignant lymphoplasmacytic cells. Efforts to standardize diagnostic criteria have improved in recent years, as have treatment options including the use of the Bruton tyrosine kinase inhibitor (BTKI) ibrutinib. CASE PRESENTATION: Here, we present the case of a 70-year-old male with a remote history of WM previously treated with bendamustine and rituximab, who presented to medical attention with several months of left-sided weakness, headache, and ataxia...
2023: Case Reports in Oncology
#15
JOURNAL ARTICLE
Patrícia Áurea Andreucci Martins Bonilha, Beatriz Cassarotti, Thabata Emanuelle Martins Nunes, Hélio Afonso Ghizoni Teive
Frontal ataxia, originally described by Bruns, is characterized by the presence of signs of frontal lobe dysfunction, such as perseveration, paratonia, frontal release signs, cognitive changes, and urinary difficulty, associated with imbalance, slow gait, broad-based, the presence of postural instability and falls, retropulsion, and bradykinesia in the lower limbs. The goal of the present study is to recall the historical aspects of this condition, to draw attention to the importance of this clinical finding for the differential diagnosis of ataxias and to review the main semiological differences between primary ataxias (frontal, cerebellar, and sensory ataxia)...
October 29, 2023: Arquivos de Neuro-psiquiatria
#16
JOURNAL ARTICLE
Neil P M Todd, Sendhil Govender, Peter E Keller, James G Colebatch
We report an experiment to investigate the role of the cerebellum and cerebrum in motor learning of timed movements. Eleven healthy human subjects were recruited to perform two experiments, the first was a classical eye-blink conditioning procedure with an auditory tone as conditional stimulus (CS) and vestibular unconditional stimulus (US) in the form of a double head-tap. In the second experiment, subjects were asked to blink voluntarily in synchrony with the double head-tap US preceded by a CS, a form of Ivanov-Smolensky conditioning in which a command or instruction is associated with the US...
October 16, 2023: Cerebellum
#17
JOURNAL ARTICLE
Robert Kleyner, Nathaniel Ung, Arif Mohammad, Elaine Marchi, Karen Amble, Maureen Gavin, Ricardo Madrid, Gholson Lyon
ITPR1 is an endoplasmic reticulum-bound intracellular inositol triphosphate receptor involved in the regulation of intracellular calcium. Pathogenic variants in ITPR1 are associated with spinocerebellar ataxia (SCA) types 15/16 and 29 and have recently been implicated in a facial microsomia syndrome. In this report, we present a family with three affected individuals found to have a heterozygous missense c.800C>T (predicted p.Thr267Met) who present clinically with a SCA29-like syndrome. All three individuals presented with varying degrees of ataxia, developmental delay, and intellectual disability, as well as craniofacial involvement; an uncommon finding in patients with SCA29...
October 11, 2023: Cold Spring Harbor Molecular Case Studies
#18
JOURNAL ARTICLE
Aamir Laique, Leslie Guidotti Breting
OBJECTIVE: Wernicke's Encephalopathy (WE) is a rare neuropsychiatric syndrome caused by thiamine deficiency. WE is characterized by inattention, incoherence, confusion, eye-movement disorders, and ataxia. However, scarce information exists on neurocognitive outcomes, particularly stemming from oncology-related etiologies, (e.g., malnutrition caused by chemoradiation). In hopes of elucidating consequential deficits, a case presenting the neurocognitive profile of WE in a 71-year-old female cancer survivor is reported...
October 8, 2023: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
#19
JOURNAL ARTICLE
Jay S Chandar, Shovan Bhatia, Shreya Ingle, Mynor J Mendez Valdez, Dragan Maric, Deepa Seetharam, Jelisah F Desgraves, Vaidya Govindarajan, Lekhaj Daggubati, Martin Merenzon, Alexis Morell, Evan Luther, Ali G Saad, Ricardo J Komotar, Michael E Ivan, Ashish H Shah
Laser interstitial thermal therapy (LITT) is a minimally invasive neurosurgical technique used to ablate intra-axial brain tumors. The impact of LITT on the tumor microenvironment is scarcely reported. Nonablative LITT-induced hyperthermia (33-43˚C) increases intra-tumoral mutational burden and neoantigen production, promoting immunogenic cell death. To understand the local immune response post-LITT, we performed longitudinal molecular profiling in a newly diagnosed glioblastoma and conducted a systematic review of anti-tumoral immune responses after LITT...
September 19, 2023: Journal of Immunotherapy
#20
David Hessl, Karina Mandujano Rojas, Emilio Ferrer, Glenda Espinal, Jessica Famula, Andrea Schneider, Randi Hagerman, Flora Tassone, Susan M Rivera
BACKGROUND: Men with fragile X-associated tremor/ataxia syndrome (FXTAS) often develop executive dysfunction, characterized by disinhibition, frontal dyscontrol of movement, and working memory and attention changes. Although cross-sectional studies have suggested that earlier executive function changes may precede FXTAS, the lack of longitudinal studies have made it difficult to address this hypothesis. METHODS: This study included 66 FMR1 premutation carriers (PC) ranging from 40-78 years (Mean=59...
September 2, 2023: medRxiv
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