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BACKGROUND: Preschool age (i.e. children under six years of age) represents a red flag for requiring neuroimaging to exclude secondary potentially urgent intracranial conditions (PUIC) in patients with acute headache. We investigated the clinical characteristics of preschoolers with headache to identify the features associated with a greater risk of secondary "dangerous" headache. METHODS: We performed a multicenter exploratory retrospective study in Italy from January 2017 to December 2018. Preschoolers with new-onset non-traumatic headache admitted to emergency department were included and were subsequently divided into two groups: hospitalized and discharged. Among hospitalized patients, we investigated the characteristics linked to potentially urgent intracranial conditions. RESULTS: We included 1455 preschoolers with acute headache. Vomiting, ocular motility disorders, ataxia, presence of neurological symptoms and signs, torticollis and nocturnal awakening were significantly associated to hospitalization. Among the 95 hospitalized patients, 34 (2.3%) had potentially urgent intracranial conditions and more frequently they had neurological symptoms and signs, papilledema, ataxia, cranial nerves paralysis, nocturnal awakening and vomiting. Nevertheless, on multivariable logistic regression analysis, we found that only ataxia and vomiting were associated with potentially urgent intracranial conditions. CONCLUSION: Our study identified clinical features that should be carefully evaluated in the emergency department in order to obtain a prompt diagnosis and treatment of potentially urgent intracranial conditions. The prevalence of potentially urgent intracranial conditions was low in the emergency department, which may suggest that age under six should not be considered an important risk factor for malignant causes as previously thought.
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Servicio de Urgencia en Hospital , Cefalea , Preescolar , Humanos , Niño , Estudios Retrospectivos , Cefalea/etiología , Vómitos/epidemiología , Vómitos/complicaciones , Ataxia/complicacionesRESUMEN
OBJECTIVE: Hypoxic-ischemic encephalopathy (HIE) is the second cause of neonatal deaths and one of the main conditions responsible for long-term neurological disability. Contrary to past belief, children with mild HIE can also experience long-term neurological sequelae. The aim of this systematic review is to determine the predictive value of long-term neurological outcome of (electroencephalogram) EEG/amplitude-integrated electroencephalogram (aEEG) in children who complained mild HIE. STUDY DESIGN: From a first search on PubMed, Google Scholar, and clinicalTrials.gov databases, only five articles were considered suitable for this study review. A statistical meta-analysis with the evaluation of odds ratio was performed on three of these studies. RESULTS: No correlation was found between the characteristics of the electrical activity of the brain obtained through EEG/aEEG in infants with mild HIE and subsequent neurological involvement. CONCLUSION: EEG/aEEG monitoring in infants with mild HIE cannot be considered a useful tool in predicting their neurodevelopmental outcome, and its use for this purpose is reported as barely reliable. KEY POINTS: · HIE is responsible for long-term neurological outcome, even in newborns with mild HIE.. · No correlation was found between EEG/aEEG trace in infants with mild HIE and neurological sequelae.. · Neurophysiological monitoring, in mild HIE, cannot predic neurodevelopmental outcome..
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Hipotermia Inducida , Hipoxia-Isquemia Encefálica , Lactante , Femenino , Niño , Humanos , Recién Nacido , Valor Predictivo de las Pruebas , Hipoxia-Isquemia Encefálica/terapia , Electroencefalografía , Encéfalo , Progresión de la Enfermedad , Monitorización NeurofisiológicaRESUMEN
BACKGROUND: Benign acute childhood myositis (BACM) is a transient condition mainly affecting children of school age characterized by muscle pain, typically localized to the calf muscle with symmetrical lower extremity pain and difficulty in walking. Usually, the symptomatology is preceded by a viral infection including influenza, parainfluenza, rotavirus, and mycoplasma. METHODS: The case series was conducted in four pediatric hospitals in Catania, Italy, over a 12-year observational period. Clinical examination, laboratory data, course, treatment, and complications of the affected children were extracted from electronic medical records of each hospital. RESULTS: For the case series, 50 children diagnosed with BACM were enrolled: the mean age of affected children was 5.35 years, 86% of were males, and in 56% the affections occurred during the winter. In the affected children, the clinical picture was characterized by previous fever and/or symptoms of inflammation of the upper airways, and followed by pain in the lower extremities up to uncoordinated gait. In 17 cases the etiological agent was isolated, including the influenza virus type B as the most frequent and influenza virus type A, Mycoplasma pneumoniae, beta-hemolytic streptococcus, and herpes simplex virus. Children were treated with supportive therapy. In all the children the muscular symptomatology had a good evolution with progressive marked reduction of pain and of the high level of CKemia. Neither clinical recurrences nor sequelae were reported. CONCLUSION: BACM shows to have in most of the cases a favorable evolution, a spontaneous remission of symptoms, and a good prognosis. However, the disorder generates parental distress for the acute presentation and the striking muscle dysfunction. It is worthy a rapid and early diagnosis to avoid unnecessary diagnostic investigations and a careful follow-up necessary to exclude persistence of symptoms or creatine kinase elevation.
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Gripe Humana , Miositis , Masculino , Niño , Humanos , Preescolar , Femenino , Virus de la Influenza B , Miositis/diagnóstico , Miositis/terapia , Miositis/etiología , Gripe Humana/complicaciones , Gripe Humana/diagnóstico , Gripe Humana/epidemiología , Enfermedad Aguda , MialgiaRESUMEN
Although rare, ischemic lesions in neonates may occur in Neonatal Intensive Care Units (NICUs) secondary to routine procedures and/or medicaments. We present double-center case series, reporting three preterm neonates with ischemic lesions following cardiac arrest and radial blood sampling. The overall outcome after treatment with 2% nitroglycerine (NTG) ointment showed optimal results with no adverse events. The most frequent causes responsible for the onset of such lesions are peripheral arterial catheterization procedures and dopamine extravasation. Our series describe the cardiac arrest as an underestimated cause of onset. Despite the optimal results emerging from the treatment of such lesions with NTG ointment, both in our experience and in the scientific literature, a defined protocol for its use in NICUs is not currently available, hence the need for further studies.
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Paro Cardíaco , Unidades de Cuidado Intensivo Neonatal , Humanos , Recién Nacido , PomadasRESUMEN
BACKGROUND: The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as a surveillance mechanism, crucial for the maintenance of the correct chromosome number during cell deviation. Mutations of BUB1B gene are linked to mosaic variegated aneuploidy 1 (MVA1) syndrome, a rare autosomal recessive disorder characterized by widespread mosaic aneuploidies, involving different chromosomes and tissues. MVA1 is clinically characterized by intrauterine growth restriction, post-natal growth retardation, and severe neurologic impairment including microcephaly, developmental delay/intellectual disability, epileptic seizures, and generalized hypotonia. Malignancies are also serious sequelae associated with the disorder. We reported on a case of two-year-old Italian girl with MVA1 who shows severe neurologic impairment, microcephaly and epileptic seizures. MATERIALS AND METHODS: Clinical data collection and genetic diagnosis of the patient were assessed. Mutational analysis covers the chromosomal microarray analysis, the gene methylation pattern studied using the methylation-specific multiplex ligation-dependent probe amplification, and the family-based Whole Exome Sequencing (WES). A literature research based on reported cases of MVA and premature chromatid separation was also included. RESULTS: Karyotyping has revealed 12% of mosaics in the patient who carries a novel variant in BUB1B gene (c.2679A > T, p.Arg893Ser) detected by WES. Thirty-one cases of MVA1 including the present report, and four prenatally diagnosed cases with MVA1 were selected and inspected. CONCLUSION: Clinical and genetic findings reported in the girl strongly suggest a new MVA1 genotype-phenotype correlation and lead to a reappraisal of a severe syndrome. Diagnosis and in-depth follow-up provided worthwhile data.
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Microcefalia , Mosaicismo , Humanos , Microcefalia/genética , Proteínas Serina-Treonina Quinasas/genética , Aneuploidia , Síndrome , Mutación/genética , Convulsiones , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismoRESUMEN
Acute autoimmune encephalitis is a severe neurological disorder presenting with altered level of consciousness, confusion, irritability, headache, vomiting, and in some cases seizures. An infective event precedes by 1-2 weeks the onset of the symptoms. Cognitive impairment is considered the cardinal symptom. The autoimmune encephalitis comprises an increasingly group of inflammatory brain disorder caused by an underlying abnormal immune response to the CNS to the infective agent. In children, several antibodies have been recorded as causative agent. Among these, GAD65, MOG, and NMDAR antibodies are more commonly reported and with less frequency, the Dopamine-2 receptor, GABA A receptor, GABA B receptor, and Glycinereceptorandm-GluR5. We report here a 10-year-old male with acute autoimmune encephalitis with altered status of consciousness and severe cerebral involvement at the brain-MRI. Serum and cerebrospinal fluid disclosed the presence of anti-AMPA-GluR3 antibodies suggesting a possible pathogenetic correlation with the disorder presented by the proband. Precocious treatment with intravenous methylprednisolone and immunoglobulin resulted in progressive but constant improvement. At 3-month follow-up, the clinical condition of the child and the neuro-radiological brain anomalies returned to the normal. At the 2-year follow-up, no recurrence or other disturbances were reported.
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Encefalitis Antirreceptor N-Metil-D-Aspartato , Encefalitis , Enfermedad de Hashimoto , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Autoanticuerpos , Niño , Encefalitis/complicaciones , Encefalitis/tratamiento farmacológico , Enfermedad de Hashimoto/complicaciones , Enfermedad de Hashimoto/tratamiento farmacológico , Humanos , Masculino , Convulsiones/etiologíaRESUMEN
BACKGROUND: In the neonatal intensive care unit (NICU), maintaining an oxygenation level that avoids both hypoxemia and hyperoxemia is challenging. Pulse oximetry has become fundamental for noninvasive monitoring of saturation of peripheral oxygen (Spo2) in preterm newborns. PURPOSE: The aim of this systematic review is to determine Spo2 target values in order to avoid hypoxemia or hyperoxemia and complications arising from these. METHOD AND SEARCH STRATEGY: For this systematic review, articles were audited from 2010 to 2020 using the PRISMA guidelines. PubMed, MEDLINE, Google Scholar, and Scopus databases were used, and search terms were related to use of pulse oximetry in the NICU. RESULTS: The result showed that 12 of 20 (60%) studies focused on target values but without a unanimous agreement on values, although 5 of 12 studies (41.66%) suggested a lower value target of 85% and 4 of 12 studies (33.33%) recommended 95% as the higher target value. Other authors showed no difference in the incidence of adverse events comparing different target values and focused the importance more on the fluctuation of the value than on the target value itself. IMPLICATION FOR PRACTICE: Reaching a balance in the oxygen administration so as to avoid potential complications associated with hypoxemia or hyperoxemia is a challenge for the clinicians. IMPLICATION FOR RESEARCH: Further studies on fluctuation of Spo2 comparing different starting targets could better clarify the role of fluctuations and the absolute target values.Video Abstract available at:https://journals.na.lww.com/advancesinneonatalcare/Pages/videogallery.aspx?autoPlay=false&videoId=49.
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Hiperoxia , Hipoxia , Unidades de Cuidado Intensivo Neonatal , Saturación de Oxígeno , Humanos , Hiperoxia/diagnóstico , Hiperoxia/prevención & control , Hipoxia/diagnóstico , Hipoxia/prevención & control , Recién Nacido , Recien Nacido Prematuro , Oximetría/métodos , OxígenoRESUMEN
BACKGROUND: Recreation, transportation and sport are the most common uses of bicycles. Unfortunately, repetitive bicycle use can also cause injuries, such as osteoarticular direct and undirect traumatisms and sometimes compression nerve entrapment caused by an extrinsic compressive force. PURPOSE: The aim of the study is to define diagnostic process, preventive strategies, and treatment of ulnar and median neuropathies in cyclists. STUDY DESIGN: Systematic review. METHODS: A search was conducted on PubMed, EMBASE, the Cochrane Library, and Web of Science. Two reviewers independently reviewed articles and came to a consensus about which ones to include. The authors excluded all duplicates, articles involving individuals with other sport-related injuries than cycling, and articles unrelated to peripheral neuropathies. Articles were included if hand palsy was due to peripheral compression of ulnar or median nerve in cyclists. RESULTS: The search identified 15,371 articles with the keywords "Peripheral Nervous System Diseases" OR "neuropathy" OR "ulnar palsy" OR "median palsy" AND "bicycling" OR "bike" OR "bicycle" OR "cyclist". The reviewers analyzed 48 full texts. There were 20 publications that met the criteria and were included in the systematic review. These articles were used to describe the main methods used for diagnosis, prevention and treatment of hand neuropathy of cyclists. CONCLUSION: Despite the range of treatment available for peripheral neuropathies, a unique and common protocol is lacking on this specific topic. For this reason, we delineate a definitive recovery protocol to show the best therapeutic methodologies present in the current literature. Preventive strategies, period of rest since the beginning of the symptomatology, rehabilitation training with muscle strengthening, orthoses at night are the first strategies, but if the symptoms persist, pharmacologic treatment and eventual surgical decompression are sometimes the unique solution.
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Neuropatía Mediana , Enfermedades del Sistema Nervioso Periférico , Terapia por Ejercicio/métodos , Humanos , Nervio Mediano , ParálisisRESUMEN
Vitamin B12 is a water-soluble vitamin that plays a fundamental role as an essential cofactor for two enzymes responsible for the production of succinyl-CoA and methionine. Vitamin B12 deficiency can occur in infants and may be related to the breastfeeding mother's adherence to a vegan diet or somatic diseases in the mother. It should be differentiated from inborn errors of vitamin B12 metabolism. Herein, we report the cases of three infants with West syndrome; all three were breastfed by mothers who followed a strict vegan diet. In one of the three infants, West syndrome developed during treatment with vitamin B12 and normalization of the vitamin B12 level. Early treatment and replacement therapy are worthwhile to prevent serious neurological problems and to improve the patient's clinical course.
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Enfermedades del Sistema Nervioso , Espasmos Infantiles , Deficiencia de Vitamina B 12 , Lactancia Materna , Femenino , Humanos , Lactante , Enfermedades del Sistema Nervioso/etiología , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/etiología , Vitamina B 12/uso terapéutico , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/tratamiento farmacológicoRESUMEN
SARS-CoV-2 (Severe Acute Respiratory Syndrome, Coronavirus, type 2) is the virus responsible for the global pandemic of Coronavirus disease 2019 (COVID-19) that began in China in December 2019. The variability of nasal olfactory symptoms in pediatric patients is interlinked with possible warning signs, including respiratory, gastrointestinal, ocular, or dermatological symptoms. Skin findings in patients with COVID-19 can range from petechiae to papulovesicular rashes to diffuse urticaria and can be confused with rashes of non-COVID-19 conditions. These lesions typically appear early during COVID-19 and are thought to be secondary to viral replication or circulating cytokines. Herein, we discuss two pediatric cases, presenting with skin lesions, which tested positive for SARS-CoV-2, thus, briefly reviewing current literature for similar reports and related management. Although these lesions heal spontaneously in most cases, an adequate "targeted" therapeutic approach can shorten the time and the discomfort of the skin disease.
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COVID-19 , Eritema Pernio , Niño , China/epidemiología , Humanos , SARS-CoV-2RESUMEN
AIM: To report on psychomotor development and outcomes in term born neonates with non-epileptic paroxysmal events (NEPEs). METHOD: From October 2017 to March 2019 we enrolled 38 consecutive term born neonates (22 males, 16 females; aged between 0-28d), born at the University Hospital San Marco in Catania, Italy, with NEPEs. We performed the Hammersmith Neonatal Neurological Examination scale (at enrolment), the Hammersmith Infant Neurological Examination (HINE) scale (at age 3, 6, 9, and 12mo), and the Griffiths scale (at age 12mo). RESULTS: The age at onset of first paroxysmal manifestations ranged from birth to 4 days. We recorded a suboptimal global score in 18 out of 38 patients at enrolment and in 10 out of 38 patients at age 3 months (>70% of these infants were male); all events disappeared within 6 months of life. At age 6, 9, and 12 months, all infants scored within normal values on the HINE and Griffiths scale. INTERPRETATION: Patients with NEPEs achieve neurodevelopment optimal scores within their first year of life. WHAT THIS PAPER ADDS: Neonates experiencing non-epileptic paroxysmal events (NEPEs) can be examined with the Hammersmith Neonatal Neurological Examination, Hammersmith Infant Neurological Examination, and Griffiths scale at follow-up. Newborn infants with NEPEs achieve optimal scores within the first year of life.
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Desarrollo Infantil/fisiología , Convulsiones/fisiopatología , Adulto , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Examen Neurológico , Estudios ProspectivosRESUMEN
A short review on the clinical presentation of pediatrics cases of Bickerstaff brain encephalitis emphasizing the broad clinical spectrum of the disease. Cases of pediatric Bickerstaff's brainstem encephalitis collected on three electronic medical databases (PubMed, Cochrane Library and Scopus Web of Science) are reviewed. The inclusion criteria of the cases were based on the clinical characteristics of the disorder in the pediatric age. We reviewed 20 articles on Bickerstaff's brainstem encephalitis, identifying 40 pediatric cases focused on the clinical symptoms. We saw that the prevalence was higher in male subjects, and the median age at diagnosis was 8 years. The phenotype of pediatrics patients was similar to previously published literature. We identify three cases of overlapping forms between Bickerstaff brain encephalitis and Guillain-Barré Syndrome in patients with lower limbs weakness and typical signs of Bickerstaff brain encephalitis, suggesting a combined involvement of the central and peripheral nervous system. Although there is no defined data on incidence and prevalence in the literature, Bickerstaff's brainstem encephalitis appears to be a rare disorder, especially in children. The incidence of Bickerstaff brain encephalitis and Guillain-Barré Syndrome, and Miller Fisher Syndrome has been underrated in the past, primarily due to an underestimation of the forms with a Peripheral Nervous System involvement. Bickerstaff brain encephalitis usually has a rapid and acute onset within 2-4 weeks, characterized by a typical picture of ophthalmoplegia, hyperreflexia, cerebellar symptoms as ataxia. The subsequent manifestations of hyperreflexia or consciousness disturbances as drowsiness, sleepiness, or coma, indicative of central involvement, suggest a Bickerstaff brain encephalitis clinical diagnosis.
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Enfermedades Autoinmunes del Sistema Nervioso/fisiopatología , Tronco Encefálico/fisiopatología , Enfermedades Autoinmunes del Sistema Nervioso/epidemiología , Niño , Encefalitis/epidemiología , Encefalitis/fisiopatología , HumanosRESUMEN
BACKGROUND: Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, basal ganglia and chornea. Main clinical manifestations are hypertransaminasemia, tremors, dysarthria, dystonia and psychiatric symptoms. The phenotypic variability in WD is considerable and its onset can be heterogeneous: the most common type in childhood is the hepatic involvement, followed by the neurological one or others. The presence of a genotype-phenotype correlation has not yet been fully demonstrated. The phenotypic variability may be explained by the intervention of other modifier genes regulating copper metabolism in the presence of mutations ATP7B. CASE PRESENTATION: A streaking phenotypic variability was observed in two Sicilian sisters carrying the same genotype for ATB7B gene [c.3207C > A / c.3904-2A > G]. Although both started to present signs at age 10 years, onset was characterized by neurological signs in the first (tremors, motor incoordination, language and cognitive impairment), while liver involvement has been the only sign in the other. They started the same chelation therapy. After a 20-year follow-up the former is severely affected (MRI evidence of basal ganglia copper deposits and hyperchogenic liver, thrombocytopenia), while the latter presents only a moderate liver enlargement. In literature, the splice mutation c.3904-2A > G is also reported in Egypt population, associated with acute liver failure or chronic hepatic disease, and it could be typical of Mediterranean area, not being reported in other geographical zones. CONCLUSION: Based on our clinical experience in Eastern Sicily, there is a considerable phenotypic variability in WD, even in the presence of an identical genotype. The mutation c.3904-2A > G could be associated with this phenotypic variability in Mediterranean population, but further studies should be conducted. This condition could be explained by the intervention of modifier genes regulating copper metabolism in the presence of defective ATP7B protein function. Further investigations on their role by Next Generation Sequencing or Whole Exome Analysis might have a profound impact on patients' management and in particular on therapy.
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Estudios de Asociación Genética , Degeneración Hepatolenticular/genética , Hermanos , Adulto , Niño , Femenino , Genotipo , Humanos , Adulto JovenRESUMEN
Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.
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Cromosomas Humanos X/genética , Malformaciones del Sistema Nervioso/etiología , Malformaciones del Sistema Nervioso/patología , Síndrome de Poland/complicaciones , Síndrome de Poland/genética , Duplicación Cromosómica , HumanosRESUMEN
The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant epilepsy (DRE). Actually, KD and its variants have been shown to be elective and resolute for patients with glucose transporter type 1 (GLUT1) deficiency. The aim of this review was to study the use of KD and its variants in infancy, including the neonatal age, and demonstrate the safety and efficacy of this treatment in patients with the age of 0-23â¯months affected by DRE already subjected to pharmacological approach attempts. A literature search was conducted using PubMed as the medical database source. We used the age limit of 0-23â¯months, and we considered only articles published between the years 2015 and 2018, in light of increasing interest worldwide in the use of KD and its variants to manage DRE. We included 52 publications: 1 Cochrane study, 22 retrospective studies, 9 prospective studies, 4 randomized controlled trials (RCTs), 12 clinical cases, and 4 clinical reviews. Literature data showed that KD and its variants are safe and useful in patients with the age of 0-23â¯months with DRE. Classical KD is of first choice in the treatment of GLUT1 deficiency. Earlier introduction of KD in GLUT1 promises a better outcome and a decrease in seizure frequency in these patients.
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Dieta Cetogénica/métodos , Epilepsia Refractaria/dietoterapia , Epilepsia/dietoterapia , Dieta Cetogénica/efectos adversos , Manejo de la Enfermedad , Femenino , Transportador de Glucosa de Tipo 1 , Humanos , Lactante , Recién Nacido , Masculino , Convulsiones/etiología , Resultado del TratamientoRESUMEN
Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.
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Espasmos Infantiles , Electroencefalografía , Humanos , Lactante , Pronóstico , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/genética , Espasmos Infantiles/terapiaRESUMEN
The original version of this article unfortunately contained an error. The author apologizes for having communicated an interchanged author's first and family names. Given in this article are the correct author names.
RESUMEN
Most members of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) families transduce signals via a canonical pathway involving the MyD88 adapter and the interleukin-1 receptor-associated kinase (IRAK) complex. This complex contains four molecules, including at least two (IRAK-1 and IRAK-4) active kinases. In mice and humans, deficiencies of IRAK-4 or MyD88 abolish most TLR (except for TLR3 and some TLR4) and IL-1R signaling in both leukocytes and fibroblasts. TLR and IL-1R responses are weak but not abolished in mice lacking IRAK-1, whereas the role of IRAK-1 in humans remains unclear. We describe here a boy with X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 Like many boys with MECP2 null mutations, this child died very early, at the age of 7 mo. Unlike most IRAK-4- or MyD88-deficient patients, he did not suffer from invasive bacterial diseases during his short life. The IRAK-1 protein was completely absent from the patient's fibroblasts, which responded very poorly to all TLR2/6 (PAM2CSK4, LTA, FSL-1), TLR1/2 (PAM3CSK4), and TLR4 (LPS, MPLA) agonists tested but had almost unimpaired responses to IL-1ß. By contrast, the patient's peripheral blood mononuclear cells responded normally to all TLR1/2, TLR2/6, TLR4, TLR7, and TLR8 (R848) agonists tested, and to IL-1ß. The death of this child precluded long-term evaluations of the clinical consequences of inherited IRAK-1 deficiency. However, these findings suggest that human IRAK-1 is essential downstream from TLRs but not IL-1Rs in fibroblasts, whereas it plays a redundant role downstream from both TLRs and IL-1Rs in leukocytes.
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Fibroblastos/metabolismo , Quinasas Asociadas a Receptores de Interleucina-1/deficiencia , Receptores Toll-Like/metabolismo , Deleción Cromosómica , Cromosomas Humanos X/genética , Humanos , Lactante , Quinasas Asociadas a Receptores de Interleucina-1/genética , Leucocitos/metabolismo , Masculino , Proteína 2 de Unión a Metil-CpG/genética , Receptores de Interleucina-1/metabolismo , Transducción de Señal , Receptores Toll-Like/genéticaRESUMEN
INTRODUCTION: Intra-articular injections of various drugs are commonly used in patients with degenerative osteoarthritis and also in haemophilic patients. Haemophilic arthropathy is a particular type of secondary osteoarthritis (OA), but the degeneration of strong synovial, cartilaginous and subchondral constituents is provoked by the direct action of iron and blood in the joint. AIM OF THE STUDY: The aim of this study is to review the literature regarding the use of various intra-articular drugs in joints affected by haemophilic arthropathy. METHODS: We reviewed the data from the literature; the search was performed on three medical electronic databases (PubMed, Cochrane Library and Scopus Web of Science) by three authors (B. E., A. M. and V. N.) from 3 December 2018 till 15 December 2018. The search string was as follows: (hyaluronic acid OR viscosupplementation OR platelet-rich plasma OR corticosteroid OR mesenchymal stem cells) AND (haemophilia OR haemophilic arthropathy OR haemophilic arthritis). RESULTS: Once the research was performed, a total of 300 articles were identified. 47 selected articles were analysed by the reviewers, and the eligibility of the study inclusion was assessed independently. Twelve papers were included based on clear fulfilment of the inclusion criteria. Thirty-five articles were excluded for the following reasons: no full text or accessible data for 14 of them, 15 involved surgery or rehabilitation therapy as the primary topic and 6 were systematic reviews (the main topics were beyond the haemophilic arthropathy). CONCLUSION: Although the degree of scientific evidence of the publications on intra-articular injections of various drugs (hyaluronic acid, corticosteriods, PRP and MSCs) in haemophilia is very low, it seems that intra-articular injections of hyaluronic acid can relieve joint pain for months and can be repeated every 6-12 months, which is why they can be recommended. Corticosteroid injections seem to relieve joint pain for a few weeks, but their routine use is not recommended in haemophilia. The efficacy of PRP and MSCs in haemophilic arthropathy is pending confirmation, which is why they are not currently recommended.
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Artritis/complicaciones , Artritis/tratamiento farmacológico , Hemofilia A/complicaciones , Humanos , Inyecciones IntraarticularesRESUMEN
Optic neuropathy consists of several etiological events. The primary etiologies of its acute form include optic neuritis, ischemic optic neuropathy, inflammatory (nondemyelinating) disorders, and trauma. Its subacute and chronic forms are most often linked to compressive, toxic, nutritional, or hereditary-genetic causes. Visual loss, dyschromatopsia, and visual field defects are the presenting symptoms. The Onodi cell (sphenoethmoidal air cell) is an anatomic variant located laterally and superior to the sphenoid sinus; it is closely related to the optic nerve. Onodi cell disorders are rare and may be unnoticed in differential diagnoses of patients with ocular and neurological manifestations. Here, we present the case of a 12-year-old boy with headache and acute loss of sight characterized by hemianopsia in the left eye and retrobulbar optic neuropathy caused by left sphenoethmoidal sinusitis with the presence of Onodi cell inflammation. The diagnosis was confirmed by multilayered paranasal computed tomography and cerebral magnetic resonance imaging. Therapeutic treatment resulted in gradual improvement: at the 2-week follow-up, the patient no longer had headaches and his visual acuity returned to normal. Inflammation of Onodi cells should be considered in children with headache and abnormal vision.