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1.
Neuropediatrics ; 54(5): 315-321, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37321250

RESUMEN

BACKGROUND: For patients with pharmacoresistant epilepsy, a therapeutic option is ketogenic diet. Currently, data on young infants are scarce, particularly during hospitalization in the neonatal intensive care unit (NICU). OBJECTIVE: The aim of the present study was to evaluate the short-term (3-month) efficacy and side effects of ketogenic diet in infants with "drugs-resistant" epilepsy treated during NICU stay. METHODS: This retrospective study included infants aged under 2 months started on ketogenic diet during NICU hospitalization to treat drug-resistant epilepsy from April 2018 to November 2022. RESULTS: Thirteen term-born infants were included, three (23.1%) of whom were excluded because they did not respond to the ketogenic diet. Finally, we included 10 infants. Six (60%) patients took three antiepileptics before starting the ketogenic diet, while four (40%) took more drugs. Diet had a good response in four (40%) patients. In four patients, the ketogenic diet was suspended because of the onset of serious side effects. The emetic levels of sodium, potassium, and chlorine, pH, and onset of diarrhea, constipation, and gastroesophageal reflux showed significant differences. Ketonuria was higher and blood pH lower in the group that took more than three drugs than in the group taking fewer than three drugs. CONCLUSION: The ketogenic diet is efficacious and safe in infants, but the early and aggressive management of adverse reactions is important to improve the safety and effectiveness of the ketogenic treatment.


Asunto(s)
Dieta Cetogénica , Epilepsia Refractaria , Epilepsia , Lactante , Recién Nacido , Humanos , Dieta Cetogénica/efectos adversos , Estudios Retrospectivos , Epilepsia Refractaria/tratamiento farmacológico , Cuerpos Cetónicos , Resultado del Tratamiento
2.
Neurol Sci ; 43(6): 3523-3532, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35246816

RESUMEN

BACKGROUND: The study of consciousness has always been considered a challenge for neonatologists, even more when considering the uterine period. Our review aimed to individuate at what gestational age the fetus, which later became a premature infant, can feel the perception of external stimuli. Therefore, the aim of our review was to study the onset of consciousness during the fetal life. MATERIALS AND METHODS: A literature search was performed in Medline-PubMed database. We included all papers found with the following MeSH words: "consciousness or cognition or awareness or comprehension or cognitive or consciousness of pain" in combination with "embryo or fetus or fetal life or newborn." Studies were selected if titles and/or abstracts suggested an association between formation of consciousness (the basics of neurodevelopment) and preterm infant or fetus. Titles and abstracts were first screened by three independent reviewers according to Cochrane Collaboration's recommendations. RESULTS: From the literature review, we found only 8 papers describing the onset of consciousness in the transition period from fetus to premature newborn. Therefore, according to these papers, we temporally analyzed the formation of the thalamocortical connections that are the basis of consciousness. CONCLUSIONS: We can conclude that from a neuroanatomical point of view, it is rather unlikely that the infant can be seen as a conscious human before 24 weeks of gestational age, thus before all the thalamocortical connections are established. Further literature data have to confirm this hypothesis.


Asunto(s)
Estado de Conciencia , Recien Nacido Prematuro , Cognición , Emociones , Femenino , Humanos , Recién Nacido , Dolor , Embarazo
3.
Curr Pediatr Rev ; 20(3): 370-374, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37073666

RESUMEN

BACKGROUND: SARS-CoV-2 infection tends to be lethal to the elderly population. However, sometimes children are also involved. CASE PRESENTATION: We present the case of a female infant with a corrected gestational age of 39 weeks and 4 days with severe COVID-19 pneumonia and co-infection of Klebsiella pneumoniae that was supported with extracorporeal membrane oxygenation (ECMO). RESULTS: We reported the clinical case and reviewed the literature articles on ECMO and Covid-19 in infants and children up to two years of age. CONCLUSION: It is crucial to be aware of certain risk factors (severe prematurity, coinfection), which, when linked to SARS-CoV-2 infection, must immediately alert us to the possible criticality of the clinical condition of patients, as highlighted by our own clinical case.


Asunto(s)
COVID-19 , Oxigenación por Membrana Extracorpórea , Anciano , Lactante , Niño , Humanos , Femenino , COVID-19/complicaciones , COVID-19/terapia , Oxigenación por Membrana Extracorpórea/efectos adversos , SARS-CoV-2 , Factores de Riesgo
4.
J Clin Pharmacol ; 64(2): 227-239, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37867371

RESUMEN

The optimal therapeutic management of cyclic vomiting syndrome (CVS) remains elusive. The objective of this study was to document our clinical experience in the Pediatric Department of San Marco Hospital and to survey the literature on pediatric CVS treatment, aiming to update the guidance on the most effective treatment strategies for this not-so-uncommon condition. Data from 70 patients with CVS, admitted to our Pediatric Department between September 2011 and December 2021, were aggregated and included in the study. A systematic review of the literature was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The quality of the included studies was assessed using the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool and the A Measurement Tool to Assess Systematic Reviews 2 (AMSTAR-2) method. Treatment responses, as observed both in the literature and in our own experience, are variable. In our cohort, topiramate demonstrated superiority over other pharmacological treatments, exhibiting an efficacy of 85% in the patients treated. A universally accepted treatment protocol for pediatric CVS has yet to be established. The efficacy of first-line treatments is generally suboptimal, suggesting that topiramate might serve as a safe and effective primary therapeutic option for pediatric CVS.


Asunto(s)
Vómitos , Humanos , Niño , Topiramato/uso terapéutico , Vómitos/tratamiento farmacológico , Resultado del Tratamiento
5.
Mol Diagn Ther ; 28(3): 329-337, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38581611

RESUMEN

INTRODUCTION: GNAO1 encephalopathy is characterized by severe hypotonia, psychomotor retardation, epilepsy, and movement disorders. Genetic variations in GNAO1 have been linked to neurological symptoms including movement disorders like dystonia. The correlation between the E246K mutation in the Gα subunit and aberrant signal transduction of G proteins has been established but no data are reported regarding the efficacy of medical treatment with tetrabenazine. METHODS: Molecular modeling studies were performed to elucidate the molecular mechanisms underlying this mutation. We developed drug efficacy models using molecular dynamic simulations that replicated the behavior of wild-type and mutated proteins in the presence or absence of ligands. RESULTS AND DISCUSSION: We demonstrated that the absence of the mutation leads to normal signal transduction upon receptor activation by the endogenous ligand, but not in the presence of tetrabenazine. In contrast, the presence of the mutation resulted in abnormal signal transduction in the presence of the endogenous ligand, which was corrected by the drug tetrabenazine. Tetrabenazine was identified as a promising therapeutic option for pediatric patients suffering from encephalopathy due to an E246K mutation in the GNAO1 gene validated through molecular dynamics. This is a potential first example of the use of this technique in a rare neurological pediatric disease.


Asunto(s)
Subunidades alfa de la Proteína de Unión al GTP Gi-Go , Simulación de Dinámica Molecular , Tetrabenazina , Humanos , Subunidades alfa de la Proteína de Unión al GTP Gi-Go/genética , Subunidades alfa de la Proteína de Unión al GTP Gi-Go/metabolismo , Tetrabenazina/uso terapéutico , Mutación , Encefalopatías/tratamiento farmacológico , Encefalopatías/genética , Medicina de Precisión/métodos , Transducción de Señal/efectos de los fármacos
6.
Seizure ; 118: 156-163, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38735085

RESUMEN

BACKGROUND: The main objective of this study was to evaluate the neurological consequences of delayed pyridoxine administration in patients diagnosed with Pyridoxin Dependent Epilepsies (PDE). MATERIALS AND METHODS: We reviewed 29 articles, comprising 52 genetically diagnosed PDE cases, ensuring data homogeneity. Three additional cases were included from the General Pediatric Operative Unit of San Marco Hospital. Data collection considered factors like age at the first seizure's onset, EEG reports, genetic analyses, and more. Based on the response to first-line antiseizure medications, patients were categorized into four distinct groups. Follow-up evaluations employed various scales to ascertain neurological, cognitive, and psychomotor developments. RESULTS: Our study includes 55 patients (28 males and 27 females), among whom 15 were excluded for the lack of follow-up data. 21 patients were categorized as "Responder with Relapse", 11 as "Resistant", 6 as "Pyridoxine First Approach", and 2 as "Responders". The neurological outcome revealed 37,5 % with no neurological effects, 37,5 % showed complications in two developmental areas, 15 % in one, and 10 % in all areas. The statistical analysis highlighted a positive correlation between the time elapsed from the administration of pyridoxine after the first seizure and worse neurological outcomes. On the other hand, a significant association was found between an extended latency period (that is, the time that elapsed between the onset of the first seizure and its recurrence) and worse neurological outcomes in patients who received an unfavorable score on the neurological evaluation noted in a subsequent follow-up. CONCLUSIONS: The study highlights the importance of early recognition and intervention in PDE. Existing medical protocols frequently overlook the timely diagnosis of PDE. Immediate administration of pyridoxine, guided by a swift diagnosis in the presence of typical symptoms, might improve long-term neurological outcomes, and further studies should evaluate the outcome of PDE neonates promptly treated with Pyridoxine.


Asunto(s)
Anticonvulsivantes , Epilepsia , Piridoxina , Humanos , Piridoxina/administración & dosificación , Piridoxina/uso terapéutico , Epilepsia/tratamiento farmacológico , Epilepsia/diagnóstico , Masculino , Femenino , Anticonvulsivantes/administración & dosificación , Recién Nacido , Complejo Vitamínico B/administración & dosificación , Lactante
7.
Seizure ; 117: 115-125, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38394725

RESUMEN

PURPOSE: Our study aimed to evaluate the effectiveness of corticosteroids on seizure control in drug-resistant epilepsies (DREs). Our primary goal was to assess the response to steroids for various underlying etiologies, interictal electroencephalographic (EEG) patterns and electroclinical seizure descriptions. Our second goal was to compare steroid responsiveness to different treatment protocols. METHODS: This is a retrospective multicentre cohort study conducted according to the STROBE guidelines (Strengthening the Reporting of Observational Studies in Epidemiology). The following data were collected for each patient: epilepsy etiology, interictal EEG pattern, seizure types and type of steroid treatment protocol administered. RESULTS: Thirty patients with DRE were included in the study. After 6 months of therapy, 62.7 % of patients experienced reduced seizure frequency by 50 %, and 6.6 % of patients experienced complete seizure cessation. Findings associated with favourable response to steroids included structural/lesional etiology of epilepsy, immune/infectious etiology and focal interictal abnormalities on EEG. Comparing four different steroid treatment protocols, the most effective for seizure control was treatment with methylprednisolone at the dose of 30 mg/kg/day administered for 3 days, leading to greater than 50 % seizure reduction at 6 months in 85.7 % of patients. Treatment with dexamethasone 6 mg/day for 5 days decreased seizure frequency in 71.4 % of patients. Hydrocortisone 10 mg/kg administered for 3 months showed a good response to treatment in 71 %. CONCLUSIONS: In our study, two-thirds of patients with DRE experienced a significant seizure reduction following treatment with steroids. We suggest considering steroids as a potential therapeutic option in children with epilepsy not responding to conventional antiseizure medicines (ASM).


Asunto(s)
Epilepsia Refractaria , Electroencefalografía , Humanos , Masculino , Femenino , Estudios Retrospectivos , Epilepsia Refractaria/tratamiento farmacológico , Epilepsia Refractaria/fisiopatología , Adolescente , Niño , Preescolar , Metilprednisolona/uso terapéutico , Metilprednisolona/administración & dosificación , Dexametasona/uso terapéutico , Adulto , Adulto Joven , Resultado del Tratamiento , Anticonvulsivantes/uso terapéutico , Corticoesteroides/uso terapéutico , Hidrocortisona/uso terapéutico
8.
Artículo en Inglés | MEDLINE | ID: mdl-37291779

RESUMEN

BACKGROUND: Existing therapeutic alternatives for neonatal crises have expanded in recent decades, but no consensus has been reached on protocols based on neonatal seizures. In particular, little is known about the use of midazolam in newborns. AIM: The aim of our study is to evaluate the response to midazolam, the appearance of side effects, and their impact on therapeutic decisions. METHODS: This is a STROBE-conformed retrospective observational study of 10 patients with neonatal seizures unresponsive to common antiseizure drugs, admitted to San Marco University Hospital's neonatal intensive care (Catania, Italy) from September 2015 to October 2022. In our database search, 36 newborns were treated with midazolam, but only ten children met the selection criteria for this study. RESULTS: Response was assessed both clinically and electrographic. Only 4 patients at the end of the treatment showed a complete electroclinical response; they were full-term infants with a postnatal age greater than 7 days. Non-responders and partial responders are all premature (4/10) or full-term neonates who started therapy in the first days of life (<7th day) (2/10). CONCLUSION: Neonatal seizures in preterm show a lower response rate to midazolam than seizures in full-term infants, with poorer prognosis. Liver and renal function and central nervous system development are incomplete in premature infants and the first days of life. In this study, we show that midazolam, a short-acting benzodiazepine, appears to be most effective in full-term infants and after 7 days of life.

9.
Children (Basel) ; 10(5)2023 May 06.
Artículo en Inglés | MEDLINE | ID: mdl-37238389

RESUMEN

Pediatric COVID-19 determines a mild clinical picture, but few data have been published about the correlation between disease severity and PCR amplification cycles of SARS-CoV-2 from respiratory samples. This correlation is clinically important because it permits the stratification of patients in relation to their risk of developing a serious disease. Therefore, the primary endpoint of this study was to establish whether disease severity at the onset, when evaluated with a LqSOFA score, correlated with the gene amplification of SARS-CoV-2. LqSOFA score, also named the Liverpool quick Sequential Organ Failure Assessment, is a pediatric score that indicates the severity of illness with a range from 0 to 4 that incorporates age-adjusted heart rate, respiratory rate, capillary refill and consciousness level (AVPU). The secondary endpoint was to determine if this score could predict the days of duration for symptoms and positive swabs. Our study included 124 patients aged between 0 and 18 years. The LqSOFA score was negatively correlated with the number of PCR amplification cycles, but this was not significant (Pearson's index -0.14, p-value 0.13). Instead, the correlation between the LqSOFA score and the duration of symptoms was positively related and statistically significant (Pearson's index 0.20, p-value 0.02), such as the correlation between the LqSOFA score and the duration of a positive swab (Pearson's index 0.40, p-value < 0.01). So, the LqSOFA score upon admission may predict the duration of symptoms and positive swabs; the PCR amplification of SARS-CoV-2 appears not to play a key role at onset in the prediction of disease severity.

10.
Expert Rev Neurother ; 22(2): 169-177, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35144527

RESUMEN

BACKGROUND: The ketogenic diet is a non-pharmacologic treatment option for children with drug-resistant epilepsy. This systematic review and meta-analysis aimed to assess the efficacy of the ketogenic diet on seizures frequency in children. METHODS: We reviewed the literature using Cochrane, EMBASE, MEDLINE, and highly qualified journals.Randomized controlled trials were chosen to investigate the seizures-free regime or at least 50% seizures reduction after three months from the starting of the ketogenic diet or earlier. We have selected articles from January 2011 to January 2020.Eight articles were eligible. The data show a significant reduction in seizure frequency in the dietary treatment pediatric population. The rate of a seizures-free regime or at least 50% seizures reduction was 48.31% of patients in the intervention group. RESULTS: Our overall meta-analysis underlined the significant efficacy. The KD group is 5.6 times more likely than the control group to have a 50% reduction of seizures after three months of the diet or earlier.QUADAS and AMSTAR assessments showed a low risk of bias and adequate accuracy. CONCLUSION: The results show that the KD reduces seizure frequency in children with drug-refractory epilepsy. KD is an effective treatment option for children and adolescents with refractory epilepsy.


Asunto(s)
Dieta Cetogénica , Epilepsia Refractaria , Adolescente , Niño , Dieta Cetogénica/métodos , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Convulsiones , Resultado del Tratamiento
11.
J Child Neurol ; 33(7): 487-492, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29687752

RESUMEN

BACKGROUND: This study aimed to show the impairment of autonomic cardiac conduction causing bradycardia and/or electrocardiographic alterations in children affected by spinal muscular atrophy type 1 and 2 (SMA 1 and 2). METHODS: We included 25 spinal muscular atrophy patients, admitted from November 2016 to May 2017. All patients underwent an electrocardiographic examination and we studied PR and QRS intervals, P-waves and QRS amplitudes, and heart rate in spinal muscular atrophy patients compared to a control group. RESULTS: In all patients, we found longer PRi and QRSi ( P < .05), lower P-wave and QRS complex amplitudes ( P < .01), and a decreased heart rate ( P < .01) with respect to controls. When we divided our patients into SMA1 and SMA2 subgroups, we found that statistical differences were maintained for P-wave and QRS complex amplitudes and heart rate, but not for PRi and QRSi with respect to controls. CONCLUSION: We suggest the hypothesis of SMN expression on cardiac tissue condition and/or autonomic cardiac conduction.


Asunto(s)
Electrocardiografía , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/fisiopatología , Sistema Nervioso Autónomo/fisiopatología , Estudios de Casos y Controles , Niño , Estudios de Cohortes , Femenino , Humanos , Masculino
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