1,721,128 research outputs found
Early Pyridoxine Administration to Avoid Late Diagnosis of Pyridoxine-Dependent Epilepsy; Comment on the ILAE Guidelines Proposal on the Treatment of Seizures in the Neonate
No full textThe ILAE Task Force on Neonatal Seizures has recently published consensus-based guidelines and recommendations for the treatment of neonatal seizures (https://www.ilae.org/guidelines/guidelines-and-reports/treatment-of-seizures-in-the-neonateguidelines-and-consensus-based-recommendations).
The Task Force suggests that a trial of pyridoxine should be provided as an add-on to ASM (antiseizures medications) treatment in neonates with seizures of unidentified etiology that are unresponsive to second-line ASM. Both daily clinical practice (including our experience with three patients with pyridoxine-dependent epilepsy [PDE]) and published literature support the possibility that patients with vitamin B6-dependent epilepsy may show an initial response to common ASMs, but can relapse with status epilepticus later in life. A brief review of the literature revealed 53 reports of newborns with seizures that showed initial response to first- and second-line ASMs including phenobarbital, phenytoin, midazolam, levetiracetam, and valproic acid. These same patients relapsed with seizures and in some cases with status epilepticus later in life and were diagnosed with PDEs.[1] [2] [3] [4] [5] [6]
We are aware that PDE is an extremely rare condition that can mimic other more common causes for neonatal seizures and that pyridoxine's administration is not devoid of side effects, although rare, preventable, and known. Nevertheless, based on the above evidence, we believe that postponing pyridoxine administration and restricting its use only as an add-on therapy to ASMs in treatment unresponsive patients might lead to a dramatic delay in PDE. We believe that there is an urgent need to addend these guidelines after thoroughly examining this matter to at least cite the possibility of missing an early PDE diagnosis and to consider the possibility of suggesting a trial of pyridoxine in all patients with seizures of unknown etiology as first-line treatment even before ASM administration, especially in newborns presenting with clinical and/or electroencephalography features suggestive of PDE
Skin Involvement as a Clinical Marker of Neuromuscular Disorders
No full textThe skin and the muscular skeletal tissues, despite their different embryological origin (from ectoderm the skin and from mesoderm the muscle), can be affected at the same time in some neuromuscular disorders (NMDs). In particular, skin involvement may manifest at any stage of certain NMD: some NMDs with onset during the pediatric age could present with a selective and mild skin involvement such as occurs in Bethlem myopathy or more extensively and devastatingly such as in the form of Epidermolysis Bullosa simplex associated to muscular dystrophy
KCNQ2 - Related Epilepsy: geno - phenotype relationship with tailorized anti seizures medication (ASM): Systematic review
No full text: Autosomal dominant mutations of KCNQ2 gene cause two epileptic disorders: Benign Familial Infantile Epilepsy (BFIE) and Early Onset Epileptic Encephalopathy (EOEE). Identifying the best reported therapy for these patients is the aim of this systematic Methods: we searched on Pubmed using the search terms "KCNQ2" AND "therapy" and "KCNQ2" AND "treatment"; we found 304 papers, of these, 29 met our criteria. We selected the data of 194 patients. All 29 papers were retrospective studies. Results: 104 patients were classified as EOEE, 90 as BFIE. After starting the treatment, 95% of BFIE became seizure-free while only in 73% of those with EOEE the seizures stopped.. Phenobarbital and sodium channel blockers were the most used treatment in BFIE. Most of the EOEE patients needed polytherapy and in the great majority, their outcome was severely affected (77%). Missense mutations were discovered in 96% of EOEE patients; they were prevalent but with a lower percentage also in BFIE ones (50%), followed by large deletion (16%), truncating (16%), splice donor site (10%) and frameshift (7%). Conclusions: Phenobarbital or Carbamazepine are reported to be the most effectivedrugs for child who have "benign" course, instead polytherapy is often necessary in EOEE patients, even if did not improve their neurological outcome In EOEE patients, mutations were located most frequently in S4 and S6 Helix and this could be an important information for developing new specific drugs
Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly
No full textPurpose Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early diagnosis is important, as it prevents neurological complications and emergencies. Diagnosis in the past was often made late and with imaging tests that subjected the infant to a high radiation load. Suture ultrasound does not use ionizing radiation; it is easy to perform, allows an early diagnosis, and directs toward the execution of the cranial 3D-CT scan, neurosurgical consultation, and possible intervention. The aim of the study is to describe the high sensitivity and specificity of suture ultrasound for the differential diagnosis between plagiocephaly and craniosynostosis.Methods We reported our prospective experience and compared it with the data in the literature through a systematic review. The systematic review was conducted on electronic medical databases (PubMed, Embase, Cochrane Library, Scopus, and Web of Science) evaluating the published literature up to November 2020. According to Preferred Reporting Items for Systematic Reviews and Meta-ANALYSES (PRISMA statement), we identified 2 eligible studies. Additionally, according to AMSTAR 2, all included reviews have been critically rated as high quality. A total of 120 infants with abnormal skull shape were examined in NICU. All underwent clinical and ultrasound examination.Results Of the total, 105 (87.5%) had plagiocephaly and 15 dolichocephaly/scaphocephaly (12.5%). None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonographically in 1 infant and subsequently confirmed by 3D CT scan (100%).Conclusion Cranial sutures ultrasonography can be considered in infants a selective, excellent screening method for the evaluation of skull shape deformities as first technique before the 3D CT scan exam and subsequent neurosurgical evaluation. Cranial suture ultrasonography should be considered part of clinical practice especially for pediatricians
Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)
No full textThe hypertrichosis cubiti also named "hairy elbow syndrome" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including short stature, facial dysmorphism, developmental delay and bone anomalies
Diaphragm ultrasound in children useful in emergency and non-emergency indications. Clinical applications: A systematic review
No full textM-mode ultrasonography has been used in the assessment of diaphragm kinetics. The sonographic diaphragmatic parameters can provide valuable information in the assessment and follow-up of patients with diaphragmatic dysfunction, during ventilation, and can potentially help to understand post-operative pulmonary dysfunction or weaning failure from ventilation. We conducted a systematic review of literature concerning the clinical applications of diaphragmatic ultrasound in children. The morphological and functional evaluation of the diaphragm by ultrasound technique is becoming an increasingly widespread practice in intensive, medical and surgery category. Our systematic review shows how diaphragmatic ultrasonography finds indication in different areas. It requires a standardization of parameters and normal measurement values
From abnormal fetal movements to neonatal seizures: A literature review
No full textFetal seizures (FS) are underestimated and underdiagnosed events with a poor prognosis that could precede neonatal seizures. FS diagnosis could be clinical or by means of ultrasound. FS causes are heterogenic. After a PubMed, Google Scholar and SCOPUS research, aimed to find publications concerning FS, we selected 23 studies, mainly case reports with literature reviews, for a total of 29 patients. We evaluated the method of diagnosis, gestational age at diagnosis of FS, FS etiology, time of etiological diagnosis, fetal/neonatal outcome and possible therapeutic options. Fetal seizures were mainly felt by the mother (20/29 cases, 69 %) or diagnosed by fetal ultrasound (17/29 cases, 58.6 %). When seizures were felt by the mother, the gestational age of the fetal seizures was comprised from 20 to 40 week (average 31.3 weeks); the range of weeks when fetal seizures were detected by ultrasound ranged from 13 to 41 weeks (average 29.3 weeks). Among the etiologies, the most frequent were Pyridoxine dependent epilepsy and arthrogryposis multiplex congenita (4/29 each, 13.8 %), followed by fatal infantile olive-ponto-cerebellar hypoplasia 3/29, 10.3 %). The outcome of the most of patients was severe, with neonatal death occurring in 12/29 (41.4 %), therapeutic abortion in 5/28 (17.2 %); death occurred later in infancy in 3/29 (10.3 %), while 8/29 (31 %) presented psychomotor delay. FS may be a prenatal sign of fetal neurological impairment. Their knowledge is crucial because an early diagnosis allow an appropriate management of pregnancy, and an early anti-convulsant treatment after birth. However, in the reported cases, the prognosis was frequently poor
Near-infrared spectroscopy (NIRS) as a tool to prevent cerebral desaturation in newborns with bradycardia events: A systematic review
No full textObjective: Near infrared spectroscopy (NIRS) is a non-invasive tool providing real-time continuous measurement of regional cerebral blood oxygenation and indirect blood flow. The aim of this review is to determine the best evidence to guide the use of NIRS to detect and avoid abnormalities of cerebral perfusion and oxygenation in newborns with bradycardia. Design: For this systematic review according to PRISMA Statement, we reviewed papers from 2000 to 2023. Research articles, trial, classical articles, observational studies applying NIRS in term and preterm neonates with bradycardia were selected if the title and/or abstract suggested an association between bradycardia or bradycardia associated with apnoea and modification of cerebral oxygenation. Main results: All included studies (Table 1) were conducted on male and female newborns with gestational age (GA) between 22.6 and 42 weeks and birth weight (BW) between 212 and 3460 g. The definition of bradycardia and cerebral desaturation differed among authors. Seven out of nine papers agreed on association between bradycardia and cerebral desaturation, but no author indicated the cut-off of heart rate (HR) under which cerebral desaturations occur. No study focused on long-term outcome related to cerebral desaturation. Conclusions: Even if cut-off values of HR causing cerebral desaturation are not clear and a well-fixed definition of cerebral desaturation has not yet been standardized, the studies demonstrated that bradycardia events lead to reduction of cerebral saturation. Continuous monitoring of HR and cerebral saturation by non-invasive tools could play a key role in the assessment of newborns
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