Publications by authors named "Carlos Castillo Pinto"

5 Publications

  • Page 1 of 1

Fifteen years of urea cycle disorders brain research: Looking back, looking forward.

Anal Biochem 2021 Oct 9:114343. Epub 2021 Oct 9.

Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., United States. Electronic address:

Urea cycle disorders (UCD) are inherited diseases resulting from deficiency in one of six enzymes or two carriers that are required to remove ammonia from the body. UCD may be associated with neurological damage encompassing a spectrum from asymptomatic/mild to severe encephalopathy, which results in most cases from Hyperammonemia (HA) and elevation of other neurotoxic intermediates of metabolism. Electroencephalography (EEG), Magnetic resonance imaging (MRI) and Proton Magnetic resonance spectroscopy (MRS) are noninvasive measures of brain function and structure that can be used during HA to guide management and provide prognostic information, in addition to being research tools to understand the pathophysiology of UCD associated brain injury. The Urea Cycle Rare disorders Consortium (UCDC) has been invested in research to understand the immediate and downstream effects of hyperammonemia (HA) on brain using electroencephalogram (EEG) and multimodal brain MRI to establish early patterns of brain injury and to track recovery and prognosis. This review highlights the evolving knowledge about the impact of UCD and HA in particular on neurological injury and recovery and use of EEG and MRI to study and evaluate prognostic factors for risk and recovery. It recognizes the work of others and discusses the UCDC's prior work and future research priorities.
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http://dx.doi.org/10.1016/j.ab.2021.114343DOI Listing
October 2021

Incidence and predictors of epilepsy in children with congenital heart disease.

Cardiol Young 2021 Aug 9:1-7. Epub 2021 Aug 9.

Department of Neurology, Children's National Hospital, Washington, DC, USA.

Objective: Children with CHD may be at increased risk for epilepsy. While the incidence of perioperative seizures after surgical repair of CHD has been well-described, the incidence of epilepsy is less well-defined. We aim to determine the incidence and predictors of epilepsy in patients with CHD.

Methods: Retrospective cohort study of patients with CHD who underwent cardiopulmonary bypass at <2 years of age between January, 2012 and December, 2013 and had at least 2 years of follow-up. Clinical variables were extracted from a cardiac surgery database and hospital records. Seizures were defined as acute if they occurred within 7 days after an inciting event. Epilepsy was defined based on the International League Against Epilepsy criteria.

Results: Two-hundred and twenty-one patients were identified, 157 of whom were included in our analysis. Five patients (3.2%) developed epilepsy. Acute seizures occurred in 12 (7.7%) patients, only one of whom developed epilepsy. Predictors of epilepsy included an earlier gestational age, a lower birth weight, a greater number of cardiac surgeries, a need for extracorporeal membrane oxygenation or a left ventricular assist device, arterial ischaemic stroke, and a longer hospital length of stay.

Conclusions: Epilepsy in children with CHD is rare. The mechanism of epileptogenesis in these patients may be the result of a complex interaction of patient-specific factors, some of which may be present even before surgery. Larger long-term follow-up studies are needed to identify risk factors associated with epilepsy in these patients.
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http://dx.doi.org/10.1017/S1047951121003279DOI Listing
August 2021

Endovascular therapy for acute stroke in children: age and size technical limitations.

J Neurointerv Surg 2021 Sep 8;13(9):794-798. Epub 2021 Apr 8.

Radiology, Children's National Hospital, Washington, District of Columbia, USA.

Endovascular therapies for acute childhood stroke remain controversial and little evidence exists to determine the minimum age and size cut-off for thrombectomy in children. Despite this, an increasing number of reports suggest feasibility of thrombectomy in at least some children by experienced operators. When compared with adults, technical modifications may be necessary in children owing to differences in vessel sizes, tolerance of blood loss, safety of contrast and radiation exposure, and differing stroke etiologies. We review critical considerations for neurologists and neurointerventionalists when treating pediatric stroke with endovascular therapies. We discuss technical factors that may limit feasibility of endovascular therapy, including size of the femoral and cervicocerebral arteries, which contributes to vasospasm risk. The risk of femoral vasospasm can be assessed by comparing catheter outer diameter with estimated femoral artery size, which can be estimated based on the child's height. We review evidence supporting specific strategies to mitigate cervicocerebral arterial injury, including technique (stent retrieval vs direct aspiration) and device size selection. The importance of and strategies for minimizing blood loss, radiation exposure, and contrast administration are reviewed. Attention to these technical limitations is critical to delivering the safest possible care when thrombectomy is being considered for children with acute stroke.
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http://dx.doi.org/10.1136/neurintsurg-2021-017311DOI Listing
September 2021

Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency.

J Pediatr Genet 2021 Mar 23;10(1):77-80. Epub 2020 Apr 23.

Division of Neurogenetics and Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, District of Columbia, United States.

We report the case of a 3-year-old male patient who presented with a 3-day history of altered mental status, emesis, and abdominal pain in the setting of a viral illness. A rapid screening revealed a high ammonia level and after reviewing his proton magnetic resonance spectroscopy (1H MRS) which showed the classic triad of high glutamate, low choline, and myoinositol, a diagnosis of ornithine transcarbamylase deficiency (OTCD) was made within 6 hours of presentation. Therapy with sodium phenylbutyrate and sodium benzoate was initiated and patient was discharged after 3 days with no neurologic disability. Biochemical and molecular testing eventually confirmed the diagnosis. 1H MRS is a practical and fast neuroimaging modality that can aid in diagnosis of OTCD and enables faster initiation of treatment in acute settings.
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http://dx.doi.org/10.1055/s-0040-1709670DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7853912PMC
March 2021

Mechanical Thrombectomy for Acute Ischemic Stroke: Considerations in Children.

Stroke 2020 10 11;51(10):3174-3181. Epub 2020 Sep 11.

Department of Radiology, The Johns Hopkins School of Medicine, Baltimore, MD. (G.D., P.G., M.S.P.).

The use of mechanical thrombectomy for the treatment of acute childhood arterial ischemic stroke with large vessel occlusion is increasing, with mounting evidence for its feasibility and safety. Despite this emerging evidence, clear guidelines for patient selection, thrombectomy technique, and postprocedure care do not exist for the pediatric population. Due to unique features of stroke in children, neurologists and interventionalists must consider differences in patient size, anatomy, collateral vessels, imaging parameters, and expected outcomes that may impact appropriate patient selection and timing criteria. In addition, different causes of stroke and comorbidities in children must be considered and may alter the safety and efficacy of thrombectomy. To optimize the success of endovascular intervention in children, a multidisciplinary team should take into account these nuanced considerations when determining patient eligibility, developing a procedural approach, and formulating a postprocedure neurological monitoring and therapeutic plan.
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http://dx.doi.org/10.1161/STROKEAHA.120.029698DOI Listing
October 2020
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