Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.

Background: Lipoyl transferase 2 is involved in the biosynthesis of lipoate. Lipoate is the cofactor for the glycine cleavage system and four dehydrogenase enzymes. Biallelic variants in LIPT2 causing severe neonatal encephalopathy was first described in 2017.

Worldwide Survey on Approach to Thrombolysis in Acute Ischemic Stroke With Large Vessel Occlusion.

Background And Objectives: With recent trials suggesting that endovascular thrombectomy (EVT) alone may be noninferior to combined intravenous thrombolysis (IVT) with alteplase and EVT and that tenecteplase is non-inferior to alteplase in treating acute ischemic stroke, we sought to understand current practices around the world for treating acute ischemic stroke with large vessel occlusion (LVO) depending on the center of practice (IVT-capable vs IVT and EVT-capable stroke center).

Methods: The electronic survey launched by the Practice Current section of Neurology: Clinical Practice included 6 clinical and 8 demographic questions. A single-case scenario was presented of a 65-year-old man presenting with right hemiplegia with aphasia with a duration of 1 hour.

Emerging Subspecialties: Pediatric Movement Disorders Neurology.

Pediatric movement disorders (PMD) neurologists care for infants, children, and adolescents with conditions that disrupt typical movement; serving as important subspecialist child neurologists in both academic and private practice settings. In contrast to adult movement disorders neurologists whose "bread and butter" is hypokinetic Parkinson disease, PMD subspecialty practice is often dominated by hyperkinetic movement disorders including tics, dystonia, chorea, tremor, and myoclonus. PMD neurology practice intersects with a variety of subspecialties, including neonatology, developmental pediatrics, rehabilitation medicine, epilepsy, child & adolescent psychiatry, psychology, orthopedics, genetics & metabolism, and neurosurgery.

Surgical treatment of movement disorders in neurometabolic conditions.

Refractory movement disorders are a common feature of inborn errors of metabolism (IEMs), significantly impacting quality of life and potentially leading to life-threatening complications such as status dystonicus. Surgical techniques, including deep brain stimulation (DBS) and lesioning techniques, represent an additional treatment option. However, the application and benefits of these procedures in neurometabolic conditions is not well understood.

Spectrum of Pediatric to Early Adulthood -Associated Movement Disorders.

Background: pathogenic variants are associated with hypomyelination, hypodontia, hypogonadism, and movement disorders.

Cases: We describe the range of movement disorders seen in six patients (four female, two male) with variants [three novel (c.2214del, c.

Deep Brain Stimulation for Pediatric Dystonia: A Review of the Literature and Suggested Programming Algorithm.

Deep brain stimulation (DBS) is an established intervention for use in pediatric movement disorders, especially dystonia. Although multiple publications have provided guidelines for deep brain stimulation patient selection and programming in adults, there are no evidence-based or consensus statements published for pediatrics. The result is lack of standardized care and underutilization of this effective treatment.

EEG Correlates of Active Stopping and Preparation for Stopping in Chronic Tic Disorder.

Motor inhibition is an important cognitive process involved in tic suppression. As the right frontal lobe contains important inhibitory network nodes, we characterized right superior, middle, and inferior frontal gyral (RSFG, RMFG, RIFG) event-related oscillations during motor inhibition in youth with chronic tic disorders (CTD) versus controls. Fourteen children with CTD and 13 controls (10-17 years old) completed an anticipated-response stop signal task while dense-array electroencephalography was recorded.

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.

Background: Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1-related myopathies (RYR1-RM); the most common subgroup of congenital myopathies.

Methods: Congenital myopathy presents a diagnostic challenge due to the need for multiple testing modalities to identify the many different genetic etiologies. In this case, the patient remained undiagnosed after whole-exome sequencing (WES), chromosomal microarray, methylation analysis, targeted deletion and duplication studies, and targeted repeat expansion studies.

Randomized Controlled Trial of Bovine Lactoferrin for Prevention of Sepsis and Neurodevelopment Impairment in Infants Weighing Less Than 2000 Grams.

Objectives: To determine the effect of bovine lactoferrin on prevention of late-onset sepsis (LOS) and neurodevelopment delay.

Study Design: Randomized, double-blind, controlled trial in neonates with a birth weight of 500-2000 g in 3 neonatal units in Lima, Peru, comparing bovine lactoferrin 200 mg/kg/day with placebo administered for 8 weeks. The primary outcome was the first episode of culture-proven LOS or sepsis-associated death.

Combined predictors of neurodevelopment in very low birth weight preterm infants.

Objective: To evaluate the combined prognostic value of neurological examination, head circumference and cranial ultrasound for neurodevelopmental delay (NDD) in very low birth weight (VLBW, <1500 g) preterm infants.

Methods: Prospective follow-up study. Preterm infants with VLWB were assessed for NDD using the Mullen Scales of Early Learning test at 24 months of corrected age.

Antibiotic Overuse in Premature Low Birth Weight Infants in a Developing Country.

Background: Neonatal sepsis is a leading cause of child morbidity and mortality, especially in premature and low birth weight infants. Prompt antibiotic therapy is warranted, but its inappropriate use leads to bacterial resistance and adverse outcomes. Our objective is to describe the antibiotic use for late-onset sepsis in Peruvian premature infants.

Fosphenytoin pre-medication for pediatric extra-operative electrical stimulation brain mapping.

Purpose: We studied the effect of fosphenytoin (FOS) pre-medication on the incidence and thresholds of after-discharges (ADs), seizures, and functional responses during electrical stimulation mapping (ESM).

Methods: As individualized by the attending epileptologist, FOS was given intravenously at 2 mg-phenytoin-equivalents (PE)/kg/min or 150 mg-PE/min (whichever slower). Patients who received and did not receive FOS were compared for the incidence and thresholds of ADs, seizures, and functional responses.

After-discharges and seizures during pediatric extra-operative electrical cortical stimulation functional brain mapping: Incidence, thresholds, and determinants.

Objective: This study examined the incidence, thresholds, and determinants of electrical cortical stimulation (ECS)-induced after-discharges (ADs) and seizures.

Methods: Electrocorticograph recordings were reviewed to determine incidence of ECS-induced ADs and seizures. Multivariable analyses for predictors of AD/seizure occurrence and their thresholds were performed.

Language and motor function thresholds during pediatric extra-operative electrical cortical stimulation brain mapping.

Objective: To examine current thresholds and their determinants for language and motor mapping with extra-operative electrical cortical stimulation (ECS).

Methods: ECS electrocorticograph recordings were reviewed to determine functional thresholds. Predictors of functional thresholds were found with multivariable analyses.

[Use of lumbar puncture in the evaluation of late-onset sepsis in low birth weight neonates].

The objective of this study was to analyze the use of lumbar punctures (LP) in the evaluation of late-onset neonatal sepsis. It is recommended to perform an LP as part of the evaluation of late-onset sepsis. We used a cohort of 414 newborns with a birth weight <2000g in three hospitals in Lima.

Randomized controlled trial of lactoferrin for prevention of sepsis in peruvian neonates less than 2500 g.

Background: Lactoferrin (LF) is a broad-spectrum antimicrobial and immunomodulatory milk glycoprotein.

Objective: To determine the effect of bovine LF on the prevention of the first episode of late-onset sepsis in Peruvian infants.

Methods: We conducted a pilot randomized placebo-controlled double blind study in infants with a birth weight (BW) less than 2500g in 3 Neonatal Units in Lima.

Challenges in the diagnosis and management of neonatal sepsis.

Neonatal sepsis is the third leading cause of neonatal mortality and a major public health problem, especially in developing countries. Although recent medical advances have improved neonatal care, many challenges remain in the diagnosis and management of neonatal infections. The diagnosis of neonatal sepsis is complicated by the frequent presence of noninfectious conditions that resemble sepsis, especially in preterm infants, and by the absence of optimal diagnostic tests.

Vaccine schedule compliance among very low birth weight infants in Lima, Peru.

Objective: There is little information about vaccine schedule compliance in very-low-birth-weight infants in developing countries. The aim of the study was to describe the compliance with the vaccine schedule among this population in Lima, Peru.

Patients And Methods: We conducted a prospective cohort study in four hospitals in Lima in infants with a birth-weight of less than 1500 g, followed from birth up to 12 months of age every 2 weeks.

Respiratory syncytial virus-associated hospitalizations in pre-mature infants in Lima, Peru.

We conducted a prospective cohort study in four hospitals in Lima, Peru in infants with a birth weight ≤ 1,500 g followed from birth hospital discharge up to 1 year of age to determine the incidence of respiratory syncytial virus (RSV) hospitalizations. We enrolled 222 infants from March of 2009 to March of 2010: 48 infants with a birth weight < 1,000 g and 174 infants with a birth weight of 1,000-1,500 g (birth weight = 1,197 ± 224 g; gestational age = 30.1 ± 2.

[Unifying criteria for late neonatal sepsis: proposal for an algorithm of diagnostic surveillance].

Infections are a major cause of death in neonates. Diagnosis of neonatal sepsis is a major challenge because newborns have very nonspecific clinical signs and auxiliary tests have low sensitivity. In order to improve the correct diagnosis of this condition, we propose an algorithm of diagnostic surveillance for late neonatal sepsis in Peru and countries of the region.