keyword
https://read.qxmd.com/read/38455755/-ryr2-receptor-gene-mutation-associated-with-catecholaminergic-polymorphic-ventricular-tachycardia-in-children-a-case-report-literature-review
#1
Nur Mashitah Abdullah, Adli Ali
BACKGROUND: Ryanodine receptor 2 ( RYR2 ) gene mutation causing catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the identified causes of sudden death in adults and children. CASE DESCRIPTION: We report a case of RYR2 gene mutation presented with cardiac arrest and recurrent syncopal attack with accidental finding of cardiac tumour. For the systematic review, we used four databases (Scopus, PubMed, Ovid and Google Scholar) to search articles with the terms " RYR2 gene mutation" and "catecholaminergic polymorphic ventricular tachycardia (CPVT)"...
February 29, 2024: Translational Pediatrics
https://read.qxmd.com/read/38444599/colpocephaly-in-an-adult-a-rare-case-report
#2
Arushi Sangwan, Ranjana Meena
Colpocephaly is the disproportionate enlargement of the occipital horns of the lateral ventricles. It is usually diagnosed in the neonatal period or early childhood due to symptom severity. Adult cases of colpocephaly are rarely reported and often incidentally diagnosed. We report a case of colpocephaly with partial agenesis of the corpus callosum in a 30-year-old female with no past medical history. The patient presented after a syncopal episode with associated complaints of dizziness, vomiting, and chronic intermittent headaches...
May 2024: Radiology Case Reports
https://read.qxmd.com/read/38401417/testing-the-diagnostic-accuracy-of-common-questions-for-seizure-diagnosis-challenges-and-future-directions
#3
JOURNAL ARTICLE
Ellen Snyder, Stefan Sillau, Kelly G Knupp, Jacqueline French, Amber Khanna, Marius Birlea, Kavita Nair, Jacob Pellinen
OBJECTIVE: The aim of this study was to evaluate the diagnostic accuracy of common interview questions used to distinguish a diagnosis of epilepsy from seizure mimics including non-epileptic seizures (NES), migraine, and syncope. METHODS: 200 outpatients were recruited with an established diagnosis of focal epilepsy (n = 50), NES (n = 50), migraine (n = 50), and syncope (n = 50). Patients completed an eight-item, yes-or-no online questionnaire about symptoms related to their events...
February 23, 2024: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/38383949/differences-in-testing-for-drugs-of-abuse-amongst-racial-and-ethnic-groups-at-children-s-hospitals
#4
JOURNAL ARTICLE
Adriana Herrera, Matt Hall, Marshall Alex Ahearn, Arshiya Ahuja, Kathleen K Bradford, Robert A Campbell, Ashmita Chatterjee, Hannah Y Coletti, Virginia L Crowder, Ria Dancel, Melissa Diaz, Jennifer Fuchs, Jessica Guidici, Emilee Lewis, John R Stephens, Ashley G Sutton, Alison Sweeney, Kelley M Ward, Steven Weinberg, Eric K Zwemer, Wade N Harrison
OBJECTIVES: Racial and ethnic differences in drug testing have been described among adults and newborns. Less is known regarding testing patterns among children and adolescents. We sought to describe the association between race and ethnicity and drug testing at US children's hospitals. We hypothesized that non-Hispanic White children undergo drug testing less often than children from other groups. METHODS: We conducted a retrospective cohort study of emergency department (ED)-only encounters and hospitalizations for children diagnosed with a condition for which drug testing may be indicated (abuse or neglect, burns, malnutrition, head injury, vomiting, altered mental status or syncope, psychiatric, self-harm, and seizure) at 41 children's hospitals participating in the Pediatric Health Information System during 2018 and 2021...
February 21, 2024: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://read.qxmd.com/read/38333565/fatal-coronary-artery-anomaly-concealed-in-young-athletes-with-exertional-syncope
#5
Toshinobu Ifuku, Keigo Nakatani, Kentaro Ueno, Naoto Yamashita, Yutaka Imoto
BACKGROUND: Syncope is a common symptom in children, many of which are benign and do not require treatment. Anomalous aortic origin of a coronary artery (AAOCA) is a rare congenital malformation but can be a risk for serious cardiovascular events, including sudden death as well as cardiogenic syncope. Case Report . We describe the case of a 14-year-old boy who suffered an initial syncope and afebrile seizure during a soccer game. A detailed medical history and imaging studies led to the diagnosis of the anomalous aortic origin of the left main coronary artery with an intramural course (AAOLCA-IM)...
2024: Case Reports in Pediatrics
https://read.qxmd.com/read/38331395/syncope-in-older-adults-challenges-approach-and-treatment
#6
JOURNAL ARTICLE
Sofie Jansen, Nathalie van der Velde
Syncope can have devastating consequences, resulting in injuries, accidents or even death. In our ageing society, the subsequent healthcare usage, such as emergency room presentations, surgeries and hospital admissions, forms a significant and growing socioeconomic burden. Causes of syncope in the older adult include orthostatic hypotension, carotid sinus syndrome, vasovagal syncope, structural cardiac abnormalities, cardiac arrhythmias and conduction abnormalities. As stated in the recently published World Falls Guidelines, syncope in older adults often presents as falls, which is either due to amnesia for loss of consciousness, or pre-syncope leading to a fall, especially in those prone to falls with several other risk-factors for falls present...
February 1, 2024: Age and Ageing
https://read.qxmd.com/read/38310553/assessment-of-neurologic-safety-profile-of-immune-checkpoint-inhibitors-evaluation-of-adverse-drug-reaction-reports
#7
JOURNAL ARTICLE
Atul Khurana, Harikesh Dubey, Mandeep Kumar Arora
BACKGROUND: Immune checkpoint inhibitors (ICIs) used in immunotherapy have revolutionized cancer management. However, ICI therapy can come with serious neurologic risks. OBJECTIVE: The objective of our study is to analyze the occurrence of neurologic events with ICIs. METHODS: We referred to EudraVigilance (EV) and VigiAccess to evaluate the frequency of individual case safety reports (ICSRs), including neurologic events with ICIs. Data was gathered for a period from the date of ICI's marketing authorization till 30 January 2023...
January 19, 2024: Current Drug Safety
https://read.qxmd.com/read/38304691/reversible-vagal-nerve-stimulation-induced-vocal-cord-paralysis-and-intractable-neck-pain-following-a-syncopal-fall-a-case-report
#8
Ethan J Houskamp, James M Mossner, S Katie Bandt
Vagal nerve stimulation (VNS) is a well-tolerated procedure for patients with medication-resistant and non-focal epilepsy. It does, however, have potential complications (e.g., hoarseness and cough) thought to be from vagus nerve irritation. These arise postoperatively and generally improve without intervention. If these symptoms present later or do not improve, it suggests a more insidious etiology. Herein we report the case of a patient in their 50s with medication-resistant epilepsy, who subsequently underwent VNS electrode array and pulse generator implantation to aid seizure management...
January 2024: Curēus
https://read.qxmd.com/read/38272015/prevalence-and-trajectories-of-post-covid-19-neurological-manifestations-a-systematic-review-and-meta-analysis
#9
Giorgia Giussani, Erica Westenberg, David Garcia-Azorin, Elisa Bianchi, Abdul Hanif Khan Yusof Khan, Ricardo Francisco Allegri, Arife Çimen Atalar, Betul Baykan, Lucia Crivelli, Arianna Fornari, Jennifer A Frontera, Alla Guekht, Raimund Helbok, Fan Kee Hoo, Miia Kivipelto, Matilde Leonardi, Ana Sabsil Lopez Rocha, Francesca Mangialasche, Alessia Marcassoli, Ayse Nur Özdag Acarli, Aynur Ozge, Kameshwar Prasad, Manya Prasad, Ekaterina Sviatskaia, Kiran Thakur, Alberto Vogrig, Maurizio Leone, Andrea Sylvia Winkler
Introduction The aim of this systematic review and meta-analysis was to evaluate the prevalence of thirteen neurological manifestations in people affected by COVID-19 during the acute phase and at three, six, nine and twelve-month follow-up time points. Methods The study protocol was registered with PROSPERO (CRD42022325505). MEDLINE (PubMed), Embase and the Cochrane library were used as information sources. Eligible studies included original articles of cohort studies, case-control studies, cross-sectional studies and case series with ≥5 subjects that reported the prevalence and type of neurological manifestations, with a minimum follow-up of three months after the acute phase of COVID-19 disease...
January 25, 2024: Neuroepidemiology
https://read.qxmd.com/read/38156189/attacks-with-urinary-incontinence-without-convulsions-complete-atrioventricular-block-mimicking-an-epileptic-seizure
#10
Shuichiro Neshige, Narumi Ohno, Hirofumi Maruyama
Differentiating between syncope and epileptic seizures can be challenging when a specific medical history is not available. We herein report a 70s man who exhibited recurrent, brief unresponsiveness while at rest on five occasions over a year. While there were no convulsions, the patient consistently reported urinary incontinence. These events were preceded by an epigastric rising sensation without chest symptoms, suggesting a possible diagnosis of temporal lobe epilepsy, and subsequent EEG revealed temporal semi-rhythmic delta activity...
November 2023: Curēus
https://read.qxmd.com/read/38106700/a-rare-case-of-thiamine-deficiency-leading-to-dry-beriberi-peripheral-neuropathy-and-torsades-de-pointes
#11
Trevor Phinney, Kathlyn Callenius, Madhurmeet Singh, Kristin Juhasz, Mirsha Stiven, Jeffrey Tseng
Thiamine (vitamin B1) is an essential nutrient and one of the eight B vitamins. As a water-soluble vitamin, thiamine is not stored; therefore, a balanced diet is required to ensure adequate intake of this essential vitamin. Thiamine deficiency is known to cause both wet and dry beriberi, but rarely in combination. Thiamine deficiency has also been known to cause QTc prolongation, but the mechanism remains unclear. In the most severe cases, this can lead to the lethal arrhythmia of torsades de pointes. This case describes a patient who became malnourished after a closed head injury and initially presented with seizure-like activity and syncopal episodes with nonspecific numbness...
November 2023: Curēus
https://read.qxmd.com/read/38091849/predicting-the-cause-of-seizures-using-features-extracted-from-interactions-with-a-virtual-agent
#12
JOURNAL ARTICLE
Nathan Pevy, Heidi Christensen, Traci Walker, Markus Reuber
OBJECTIVE: A clinical decision tool for Transient Loss of Consciousness (TLOC) could reduce currently high misdiagnosis rates and waiting times for specialist assessments. Most clinical decision tools based on patient-reported symptom inventories only distinguish between two of the three most common causes of TLOC (epilepsy, functional /dissociative seizures, and syncope) or struggle with the particularly challenging differentiation between epilepsy and FDS. Based on previous research describing differences in spoken accounts of epileptic seizures and FDS seizures, this study explored the feasibility of predicting the cause of TLOC by combining the automated analysis of patient-reported symptoms and spoken TLOC descriptions...
January 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38074927/evaluation-of-the-effectiveness-of-risperidone-in-treating-breath-holding-spells-in-children
#13
JOURNAL ARTICLE
Gholamreza Zamani, Alireza Abdi, Morteza Heydari, Mahmoud Reza Ashrafi, Ali Reza Tavasoli
OBJECTIVES: Breath holding spells (BHS) are a type of syncope in children that is commonly seen in the first years of life. Although these attacks do not cause serious damage to the child's brain, in severe or repeated cases, they expose the brain to hypoxia and cause a lot of stress in parents. In these cases, the clinician should consider therapy. The purpose of this study is to investigate the effectiveness of Risperidone in the treatment of BHS in children visiting the neurology clinic of the Children's Medical Center Hospital...
2023: Iranian Journal of Child Neurology
https://read.qxmd.com/read/38057243/seizure-or-syncope-is-the-history-based-scale-feasible-to-use-in-an-emergency-department-setting
#14
JOURNAL ARTICLE
Stevo Lukić, Aleksandar Stojanov
BACKGROUND: This study aimed to assess the efficacy of a screening questionnaire, based on historical criteria, in distinguishing between seizures and syncope in patients experiencing their first episode of transient loss of consciousness (TLOC) in a neurology emergency department. METHODS: A prospective cohort of 159 patients with initial TLOC episodes underwent clinical observation and answered a nine-question screening questionnaire. The questionnaire's predictive ability was compared to final diagnoses determined through detailed neurology, electrophysiology, and cardiology assessments during a minimum 12-month follow-up...
December 5, 2023: Australasian emergency care
https://read.qxmd.com/read/38034935/cardioneuroablation-for-the-treatment-of-ictal-associated-cardiac-asystole-case-report-and-literature-review
#15
Jian Liang Tan, Timothy M Markman, Pasquale Santangeli, Matthew C Hyman
BACKGROUND: Ictal-associated bradyarrhythmia or asystole can be a manifestation of malignant seizure syndromes. In patients with ictal-associated hypervagotonia and asystole, cardioneuroablation may provide a promising alternative to permanent pacemaker implantation. CASE SUMMARY: We present a case of a 47-year-old female with a 1.5-year history of ongoing uncontrolled seizures with multiple semiologies despite multiple antiepileptic drugs who had episodes of symptomatic severe sinus bradycardia (15-30 b...
November 2023: European Heart Journal. Case Reports
https://read.qxmd.com/read/38029778/word-finding-difficulties-as-a-prominent-early-finding-in-a-later-diagnosis-of-attention-deficit-hyperactivity-disorder
#16
JOURNAL ARTICLE
Esther Ganelin-Cohen, Tammy Pilowsky Peleg, Noa Leibovich, Esther Bachrachg, Nathan Watemberg
OBJECTIVE:  Attention deficit hyperactivity disorder (ADHD) is a common neuropsychological disorder primarily diagnosed in childhood. Early intervention was found to significantly improve developmental outcomes, implicating on the role of early identification of ADHD markers. In the current study, we explored the developmental history of children referred to neurological assessment to identify early ADHD predictors. METHODS:  A total of 92 children and adolescents (41 females) recruited at a pediatric neurology clinic, with suspected ADHD ( n  = 39) or other neurological difficulties ( n  = 53) such as headaches, seizures, tic disorders, orthostatic hypotension, postischemic stroke, intermittent pain, and vasovagal syncope...
November 29, 2023: Neuropediatrics
https://read.qxmd.com/read/38023197/case-report-blinatumomab-as-upfront-consolidation-and-maintenance-therapy-in-a-pediatric-patient-with-high-risk-b-cell-acute-lymphoblastic-leukemia
#17
Sumit Gupta, Jessica Casey, Joseph Lasky
INTRODUCTION: B-cell acute lymphoblastic leukemia (B-ALL) is the most common malignancy in children. The current conventional chemotherapy regimens have high overall survival but with significant short- and long-term toxicities, sometimes requiring delay and termination of chemotherapy. Bispecific T-cell engager antibody blinatumomab has been successful in achieving bone marrow remission and acting as bridging therapy in minimal residual disease (MRD)-positive relapsed adult and pediatric B-ALL patients...
2023: Frontiers in Oncology
https://read.qxmd.com/read/38009970/distinguishing-convulsive-syncope-from-seizure-induced-by-repetitive-transcranial-magnetic-stimulation-a-case-report
#18
JOURNAL ARTICLE
Fahad Mukhtar, Elyssa Feuer, Lysianne Beynel, Eudora Jones, William T Regenold, Sarah H Lisanby
Repetitive transcranial magnetic stimulation (rTMS) is Food and Drug Administration cleared for clinical use in treatment-resistant depression and a growing list of other disorders. The clinical uptake of rTMS has been facilitated by its relatively benign adverse-effect profile compared with other treatment modalities. Seizure is a rare but serious adverse event that has been reported with rTMS, when dosage exceeds safety guidelines or in individuals at increased risk for seizure. Fortunately, most rTMS-induced seizures are typically transient, with no adverse sequelae, but they may lead to treatment discontinuation...
December 1, 2023: Journal of ECT
https://read.qxmd.com/read/37985318/an-expert-review-of-clozapine-in-latin-american-countries-use-monitoring-and-pharmacovigilance
#19
JOURNAL ARTICLE
Trino Baptista, Mariano Motuca, Ana Serrano, Alirio Perez Lo Presti, Alberto Fernandez-Arana, Ismael Olmos, Albis Pabon, Juan Genaro Ayala Yepez, Gabriel de Jesus Alejo Galarza, Nuria Monserrat Rivera Ramirez, Helio Elkis, Emilio J Sanz, Carlos De Las Cuevas, Jose de Leon
There is growing interest in clozapine clinical use, monitoring, and research, particularly adverse drug reactions (ADRs) other than agranulocytosis. In this study we focused on clozapine pharmacovigilance. Hence, we contacted clinicians and researchers in Latin America and requested information about local psychiatric services, clozapine availability, clinical use, and ADR monitoring with the VigiBase system. Only two countries have the minimum recommended number of psychiatric beds (15 per 100,000 residents): Uruguay (N = 34...
November 18, 2023: Schizophrenia Research
https://read.qxmd.com/read/37905352/case-report-of-a-child-with-long-qt-syndrome-type-14-caused-by-calm1-gene-mutation-and-literature-review
#20
REVIEW
Qiqing Sun, Zhenhua Xie, Fangjie Wang, Jun Guo, Xiaochen Yan
OBJECTIVE: To analyze the clinical and genetic characteristics of a patient with long QT syndrome type 14 (long QT syndrome-14, LQT14, OMIM # 616247) caused by a de novo CALM1 mutation. METHODS: The clinical data of the patient were collected, next-generation sequencing technology was used to determine the exome gene sequence of the patient, and the suspected pathogenic locus was verified by Sanger sequencing. RESULTS: A 5-year and 9-month-old girl was admitted to the hospital due to a syncopal episode...
January 2024: Molecular Genetics & Genomic Medicine
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