Publications by authors named "Alejandra Vasquez"
Article Synopsis
- The study focuses on a novel variant of the AIFM1 gene linked to early-onset hearing loss and progressive cerebellar ataxia in two siblings.
- Clinical evaluations included brain MRI scans, electromyography (EMG) studies, and whole genome sequencing (WGS), revealing various neurological symptoms and a unique genetic mutation.
- The findings suggest that AIFM1 variants should be considered in hereditary cases of cerebellar ataxia and auditory issues, contributing new insights into the genetic spectrum of related diseases.
Purpose: Delayed treatment in status epilepticus (SE) is independently associated with increased treatment resistance, morbidity, and mortality. We describe the prehospital management pathway and Emergency Medical Services (EMS) timeliness in children who developed refractory convulsive status epilepticus (RCSE).
Methods: Retrospective multicenter study in the United States using prospectively collected observational data from June 2011 to March 2020.
Background: Psychogenic non-epileptic seizures (PNES) represent a common functional disorder in the pediatric population. We aimed to characterize pediatric PNES by describing their clinical characteristics, PNES semiologies, and healthcare pathway towards and after diagnosis.
Material And Methods: This was a retrospective, observational chart review of pediatric patients aged 6 to 18 years admitted between December 2020 and December 2021 for spell classification or suspected PNES.
Background And Objectives: The objective of this study was to determine patient-specific factors known proximate to the presentation to emergency care associated with the development of refractory convulsive status epilepticus (RSE) in children.
Methods: An observational case-control study was conducted comparing pediatric patients (1 month-21 years) with convulsive SE whose seizures stopped after benzodiazepine (BZD) and a single second-line antiseizure medication (ASM) (responsive established status epilepticus [rESE]) with patients requiring more than a BZD and a single second-line ASM to stop their seizures (RSE). These subpopulations were obtained from the pediatric Status Epilepticus Research Group study cohort.
Introduction: Stiripentol (STP) is a structurally unique molecule with anticonvulsant and neuroprotective properties in animal and human studies. STP enhances gamma-aminobutyric acid (GABA)ergic neurotransmission and inhibits multiple hepatic isoenzymes (i.e.
View Article and Find Full Text PDFsp. nov., isolated from the honey stomach of the honey bee .
Int J Syst Evol Microbiol
March 2023
A novel strain, Bin7N, was isolated from the honey stomach of the honey bee . Cells are Gram-positive, non-motile, non-sporulating, facultative anaerobic and fructose 6-phosphate phosphoketolase-positive. Their optimal growth is at 37 °C in anaerobiosis in MRS (De Man, Rogosa and Sharpe) added with cysteine.
View Article and Find Full Text PDFThe honeybee gut microbiome is thought to be important for bee health, but the role of the individual members is poorly understood. Here, we present closed genomes and associated mobilomes of 102 Apilactobacillus kunkeei isolates obtained from the honey crop (foregut) of honeybees sampled from beehives in Helsingborg in the south of Sweden and from the islands Gotland and Åland in the Baltic Sea. Each beehive contained a unique composition of isolates and repeated sampling of similar isolates from two beehives in Helsingborg suggests that the bacterial community is stably maintained across bee generations during the summer months.
View Article and Find Full Text PDFObjective: We aimed to describe the acute seizure care pathway for pediatric patients and identify barriers encountered by those involved in seizure care management. We also proposed interventions to bridge these care gaps within this pathway.
Methods: We constructed a process map that illustrates the acute seizure care pathway for pediatric patients at Boston Children's Hospital (BCH).
Purpose Of Review: Summarize evidence on Developmental and Epileptic Encephalopathies (DEEs) treatments focusing on new and emerging pharmacologic therapies (see Video, http://links.lww.com/CONR/A61, Supplementary Digital Content 1, which provides an overview of the review).
View Article and Find Full Text PDFArticle Synopsis
- * Out of 293 children studied, many received multiple doses of BZDs, especially if seizures started outside of the hospital and if they delayed treatment — with 57.3% receiving BZDs beyond 30 minutes after the onset.
- * The findings suggest that more timely escalation from BZDs to non-BZD ASMs is needed, particularly for patients whose seizures began before they arrived at the hospital.
Article Synopsis
- The study aimed to examine long-term outcomes in pediatric patients experiencing refractory status epilepticus (RSE) and to identify factors linked to new neurological deficits following RSE.
- Data from 276 patients showed a 4% in-hospital mortality rate, with 62.9% of patients later developing unprovoked seizures and 39.3% of those with normal development before RSE acquiring new neurological deficits.
- Longer durations of electroclinical RSE were associated with higher risks of new deficits, and the study highlights that about one-third of previously seizure-free patients experienced recurrent seizures post-RSE.
Objectives: To characterize the pediatric super-refractory status epilepticus population by describing treatment variability in super-refractory status epilepticus patients and comparing relevant clinical characteristics, including outcomes, between super-refractory status epilepticus, and nonsuper-refractory status epilepticus patients.
Design: Retrospective cohort study with prospectively collected data between June 2011 and January 2019.
Setting: Seventeen academic hospitals in the United States.
Objective: We aimed to characterize the clinical profile and outcomes of new onset refractory status epilepticus (NORSE) in children, and investigated the relationship between fever onset and status epilepticus (SE).
Methods: Patients with refractory SE (RSE) between June 1, 2011 and October 1, 2016 were prospectively enrolled in the pSERG (Pediatric Status Epilepticus Research Group) cohort. Cases meeting the definition of NORSE were classified as "NORSE of known etiology" or "NORSE of unknown etiology.
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes.
View Article and Find Full Text PDFArticle Synopsis
- Pediatric patients with refractory status epilepticus experience delays in treatment, which varies depending on the day of the week or whether it's a holiday.
- A study analyzing 329 patients found that time to the first benzodiazepine (BZD) was longer during weekdays compared to weekends/holidays, with significant differences in time for non-BZD antiseizure medications, especially for cases that began in the hospital.
- Findings suggest that improving the response time for treatments during weekdays may enhance patient outcomes, highlighting the need for policies addressing treatment disparities based on the day of the week.
Article Synopsis
- The study aimed to identify reasons for low dosing of benzodiazepines (BZD) in children with refractory status epilepticus (RSE) and examine how this variability affects seizure cessation.
- Data from a retrospective analysis of 289 pediatric RSE patients revealed that 57.9% received a low initial BZD dose, with contributing factors being male sex, older age, no previous epilepsy diagnosis, and delayed treatment.
- Low total BZD dosing was found to significantly decrease the chances of achieving seizure cessation, indicating the need for more consistent dosing practices in both emergency and hospital settings.
Objective: Describe hospital readmission for status epilepticus (SE) in the United States, and study potential risk factors for readmission.
Methods: This is a retrospective observational study using the Healthcare Cost and Utilization Project's 2016 Nationwide Readmissions Database. We studied patients of all ages admitted to the hospital due to SE.
Objective: To determine whether publication of evidence on delays in time to treatment shortens time to treatment in pediatric refractory convulsive status epilepticus (rSE), we compared time to treatment before (2011-2014) and after (2015-2019) publication of evidence of delays in treatment of rSE in the Pediatric Status Epilepticus Research Group (pSERG) as assessed by patient interviews and record review.
Methods: We performed a retrospective analysis of a prospectively collected dataset from June 2011 to September 2019 on pediatric patients (1 month-21 years of age) with rSE.
Results: We studied 328 patients (56% male) with median (25th-75th percentile [p-p]) age of 3.
Purpose: To evaluate whether the onset of pediatric refractory status epilepticus (rSE) is related to time of day.
Method: We analyzed the time of day for the onset of rSE in this prospective observational study performed from June 2011 to May 2019 in pediatric patients (1 month to 21 years of age). We evaluated the temporal distribution of pediatric rSE utilizing a cosinor analysis.
Objective: We aimed to evaluate and compare the status epilepticus treatment pathways used by pediatric status epilepticus research group (pSERG) hospitals in the United States and the American Epilepsy Society (AES) status epilepticus guideline.
Methods: We undertook a descriptive analysis of recommended timing, dosing, and medication choices in 10 pSERG hospitals' status epilepticus treatment pathways.
Results: One pathway matched the timeline in the AES guideline; nine pathways described more rapid timings.