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1.
Childs Nerv Syst ; 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38316673

RESUMO

PURPOSE: Staphylococcus epidermidis is the most common causative microorganism of ventriculoperitoneal shunt infections. This study aimed to compare linezolid and vancomycin treatments and to examine the effect of these antibiotics alone and combined with hyperbaric oxygen therapy on the amount of bacterial colonies in the experimental S. epidermidis shunt infection model. METHODS: A shunt catheter was placed in the cisterna magna of 49 adult male Wistar albino rats. The rats were randomly divided into seven groups, as follows: sterile control, infected control, vancomycin, linezolid, hyperbaric oxygen, vancomycin + hyperbaric oxygen, linezolid + hyperbaric oxygen. In all groups except the sterile control group, 0.2 ml 107 CFU/mL S. epidermidis was inoculated to the cisterna magna. Parenteral vancomycin was administered 40 mg/kg/day to the vancomycin groups, and 50 mg/kg/day of enteral linezolid to the linezolid groups. Hyperbaric oxygen groups were given 100% oxygen at a pressure of 2.4 ATA for 50 min a day. One day after the last treatment, colony quantities in the shunt catheters and CSF were analyzed. RESULTS: The number of CSF colonies in the linezolid group was significantly lower than in the vancomycin group (p < 0.05). The number of CSF colonies in the linezolid + HBO group was significantly lower than in the vancomycin + HBO group (p < 0.05). CONCLUSIONS: Linezolid treatment was found to be more effective than vancomycin in ventriculoperitoneal shunt infection caused by S. epidermidis. There was no statistical difference among other treatment groups. Hyperbaric oxygen therapy is shown to contribute to the sterilization of cultures.

2.
Childs Nerv Syst ; 38(6): 1173-1180, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35022854

RESUMO

PURPOSE: This study describes a modified technique addressing bony defects and incomplete ossification after endoscopic strip craniectomy (ESC) for SC followed by postoperative helmet therapy (PHT). The study aims to delineate quantitative and qualitative outcomes of this modified ESC technique followed by PHT and discern the optimal duration of PHT following ESC. A secondary aim is to address the effects of the technique on bony defects. METHODS: Patients undergoing ESC followed by PHT between 2017 and 2021 were included. Patient sex, age at surgery, duration of surgery, red blood cell transfusion, length of hospital stay, PHT duration, cephalic index (CI) at multiple time points, and bony defect information were collected. Descriptive and correlative analysis was done. RESULTS: Thirty-one patients (25 male, 6 female) were operated in study period. Mean age at surgery was 12.81 weeks, mean duration of surgery was 57.50 min, average transfused RBC volume was 32 cc, mean length of hospital stay was 1.84 days, mean PHT duration was 33.16 weeks, and mean follow-up time was 63.42 weeks. Mean preoperative CI was 70.6, and mean CI at the end of PHT was significantly higher, being 77.1. Maximum improvement in CI (CImax) took place at week 22.97. PHT duration did not have a correlation with CI at last follow up. There were no bony defects. CONCLUSION: Modified ESC technique is effective in successful correction of sagittal craniosynostosis. CImax already takes place, while PHT is continuing, but there is no certain time point for dishelmeting. The technique avoided bony defects and incomplete ossification.


Assuntos
Craniossinostoses , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Craniotomia/métodos , Endoscopia/métodos , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento
3.
Nat Med ; 26(11): 1754-1765, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33077954

RESUMO

Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with neurosurgical CSF diversion with high morbidity and failure rates. The poor neurodevelopmental outcomes and persistence of ventriculomegaly in some post-surgical patients highlight our limited knowledge of disease mechanisms. Through whole-exome sequencing of 381 patients (232 trios) with sporadic, neurosurgically treated CH, we found that damaging de novo mutations account for >17% of cases, with five different genes exhibiting a significant de novo mutation burden. In all, rare, damaging mutations with large effect contributed to ~22% of sporadic CH cases. Multiple CH genes are key regulators of neural stem cell biology and converge in human transcriptional networks and cell types pertinent for fetal neuro-gliogenesis. These data implicate genetic disruption of early brain development, not impaired CSF dynamics, as the primary pathomechanism of a significant number of patients with sporadic CH.


Assuntos
Ventrículos Cerebrais/metabolismo , Predisposição Genética para Doença , Hidrocefalia/genética , Neurogênese/genética , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Ventrículos Cerebrais/diagnóstico por imagem , Ventrículos Cerebrais/patologia , Exoma/genética , Feminino , Humanos , Hidrocefalia/líquido cefalorraquidiano , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/patologia , Masculino , Mutação/genética , Células-Tronco Neurais/metabolismo , Células-Tronco Neurais/patologia , Neuroglia/metabolismo , Neuroglia/patologia , Fatores de Transcrição/genética , Proteínas com Motivo Tripartido/genética , Ubiquitina-Proteína Ligases/genética , Sequenciamento do Exoma
4.
World Neurosurg ; 138: 35-38, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32113993

RESUMO

BACKGROUND: Mural-type vein of Galen malformations (VoGMs) mostly manifest in later stages of infancy as macrocephaly, hydrocephalus, or failure to thrive unless previously diagnosed and treated. Literature is extremely limited on the success and safety of endoscopic third ventriculostomy (ETV) in acute obstructive hydrocephalus caused by an untreated VoGM. Thus, we aimed to present a case for demonstrating the possible efficacy and safety of ETV under such conditions. CASE DESCRIPTION: A 22-month-old boy presenting with acute-onset headache, vomiting, and lethargy was diagnosed with a mural-type VoGM and acute obstructive hydrocephalus. He was treated satisfactorily with ETV and endovascular embolization. We observed a shrinkage in malformation sac diameter of >20 mm in the magnetic resonance imaging angiography at postoperative year 1. The child showed normal motor and mental development at his outpatient clinic visit at postoperative month 15. CONCLUSIONS: To the best of our knowledge, this is the first case in the literature with an untreated VoGM presenting with acute obstructive hydrocephalus who was treated with the combination of ETV and endovascular embolization and had an adequate follow-up period.


Assuntos
Hidrocefalia/terapia , Neuroendoscopia/métodos , Malformações da Veia de Galeno/terapia , Ventriculostomia/métodos , Embolização Terapêutica/métodos , Humanos , Hidrocefalia/etiologia , Lactente , Masculino , Malformações da Veia de Galeno/etiologia
5.
Neuron ; 99(2): 302-314.e4, 2018 07 25.
Artigo em Inglês | MEDLINE | ID: mdl-29983323

RESUMO

Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical CSF shunting with substantial morbidity. CH pathogenesis is poorly understood. Exome sequencing of 125 CH trios and 52 additional probands identified three genes with significant burden of rare damaging de novo or transmitted mutations: TRIM71 (p = 2.15 × 10-7), SMARCC1 (p = 8.15 × 10-10), and PTCH1 (p = 1.06 × 10-6). Additionally, two de novo duplications were identified at the SHH locus, encoding the PTCH1 ligand (p = 1.2 × 10-4). Together, these probands account for ∼10% of studied cases. Strikingly, all four genes are required for neural tube development and regulate ventricular zone neural stem cell fate. These results implicate impaired neurogenesis (rather than active CSF accumulation) in the pathogenesis of a subset of CH patients, with potential diagnostic, prognostic, and therapeutic ramifications.


Assuntos
Hidrocefalia/diagnóstico , Hidrocefalia/genética , Mutação/genética , Células-Tronco Neurais/fisiologia , Estudos de Coortes , Exoma/genética , Feminino , Humanos , Masculino , Células-Tronco Neurais/patologia , Receptor Patched-1/genética , Linhagem , Fatores de Transcrição/genética , Sequenciamento do Exoma/métodos
6.
Pediatr Neurosurg ; 53(4): 247-253, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29719303

RESUMO

INTRODUCTION: Intracranial aneurysms are very rare in children. Although subarachnoidal hemorrhage (SAH) is by far the most common presentation of aneurysms in the majority of the pediatric case series, it is not rare for an unruptured aneurysm to present with a mass effect. Acute hydrocephalus is a common finding following aneurysmal SAH. However, this malady may develop even in the absence of SAH but secondary to direct obstruction by a giant aneurysm. This situation is extremely rare in children, with only a few known case reports in the literature. CASE REPORT: We report the case of a 10-year-old girl who presented with signs and symptoms of acute hydrocephalus; further radiological evaluation revealed obstructive hydrocephalus and a giant posterior cerebral artery aneurysm. Following endovascular treatment of the aneurysm, hydrocephalus was completely resolved, and the patient was symptom free. CONCLUSION: Although they are very rare, giant intracranial aneurysms must be kept in mind during the differential diagnosis of pediatric acute hydrocephalus cases. Hydrocephalus may resolve spontaneously after the successful treatment of these aneurysms.


Assuntos
Artérias Cerebrais , Hidrocefalia/etiologia , Aneurisma Intracraniano/diagnóstico , Aneurisma Intracraniano/cirurgia , Criança , Diagnóstico Diferencial , Embolização Terapêutica/métodos , Procedimentos Endovasculares/métodos , Feminino , Humanos
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