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1.
World Neurosurg ; 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38649027

RESUMO

When non-invasive tests are unable to define the epileptogenic zone in patients, intracranial electroencephalography (iEEG) is a method of localising the epileptogenic zone. Compared to non-invasive evaluations, it offers more precise information about patterns of epileptiform activity, which results in useful diagnostic information that supports surgical decision-making. The primary aim of the present study was to assess the utility of iEEG for definitive surgery for patients suffering from drug-resistant epilepsy (DRE). Online databases like PubMed, Medline, Embase, Scopus, Cochrane Library, Web of Science and IEEE explorer were searched for MeSH terms and free-text keywords. ROBINS I critical appraisal tool was used for quality assessment. Prevalence from different studies was pooled together using the inverse variance heterogeneity method. Eggers regression analysis and funnel plot were used to evaluate publication bias. The systematic review included eighteen studies, while the meta-analysis included ten studies to estimate the prevalence of seizure freedom (class I Engel) in patients undergoing surgery after iEEG. There were 526 patients in all that were included in the meta-analysis. The period of follow-up ranged from one to ten years. The overall pooled estimate of the prevalence of seizure freedom (class I Engel) in patients undergoing surgery after iEEG was 53% (95% CI: 44, 62). The results additionally demonstrated that twelve studies had a moderate risk of bias, whereas six studies had a low risk. Future studies are crucial to enhance our understanding of iEEG, guiding patient choices and unraveling their implications.

2.
Cureus ; 16(3): e55847, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38590493

RESUMO

The genetics of Down syndrome (DS) and Klinefelter syndrome (KS) are a nondisjunction of autosomal and sex chromosomes, respectively, resulting in aneuploidies. Less than 70 cases of concurrent Down-Klinefelter syndrome (DS-KS) have been reported in the literature. We report the case of a five-month-old Indian child with a rare double aneuploidy resulting in DS-KS. A five-month-old boy born to non-consanguineously married parents presented with failure to thrive and dysmorphic facies. The family history was unremarkable. On examination, he had an upward eye slant, a depressed nasal bridge, a horizontal crease in the left hand, and a sandal gap. A clinical diagnosis of the Down phenotype was considered. Karyotype analysis revealed the presence of double aneuploidy (48, XXY,+21) suggestive of DS-KS. Down-Klinefelter syndrome presents with the DS phenotype at birth, and the characteristic KS phenotype develops in early infancy and apparently manifests during puberty only. Early diagnosis is required for parental counseling and planning for future pregnancies. In children with a typical Down syndrome phenotype, chromosomal analysis is highly recommended. The diagnosis of DS-KS at the earliest has implications for these children's short-term and long-term outcomes. It helps in planning the subsequent pregnancy with appropriate genetic testing and counseling to avoid the risk of another child with trisomy.

4.
Am J Perinatol ; 39(4): 373-378, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-32920797

RESUMO

OBJECTIVE: Positive CSF culture is the gold standard for the diagnosis of meningitis but it carries poor sensitivity. CSF procalcitonin (PCT) is shown to have some utility for the diagnosis of meningitis though there are limited studies in neonatal age group. We planned this study to compare CSF, serum, and CSF to serum PCT levels in neonates with confirmed, probable, and nonmeningitis groups to determine its optimal cut-off in CSF and serum for diagnosing meningitis. STUDY DESIGN: Sixty-seven neonates who qualified for lumbar puncture were enrolled in the study. Neonates were categorized into confirmed meningitis, i.e., CSF cytochemistry and culture positive (N = 17), probable meningitis, i.e., CSF cytochemistry positive but culture negative (N = 25) and nonmeningitis, i.e., both cytochemistry and culture negative (N = 25). CSF and serum samples were stored at -80°C for PCT assay. RESULTS: Significant difference was seen in mean of CSF PCT in neonates with confirmed (0.31 ng/mL), probable (0.22 ng/mL), and nonmeningitis (0.11 ng/mL) groups. Similarly, significant difference was observed in serum PCT levels also, though the ratio of serum to CSF PCT was comparable. At cut-off of 0.2 ng/mL, CSF PCT had sensitivity of 95.2% and specificity of 96% in the diagnosis of meningitis. CONCLUSION: CSF PCT is more specific marker for the diagnosis of neonatal meningitis as compared with serum PCT and CSF to serum PCT ratio. KEY POINTS: · CSF procalcitonin is a better marker than serum procalcitonin for diagnosing neonatal meningitis.. · It is better than serum procalcitonin and CSF to serum procalcitonin ratio.. · At cut-off of >0.2 ng/mL CSF procalcitonin can diagnose neonatal meningitis with 96% specificity..


Assuntos
Doenças do Recém-Nascido , Meningites Bacterianas , Biomarcadores , Proteína C-Reativa , Calcitonina , Humanos , Recém-Nascido , Meningites Bacterianas/líquido cefalorraquidiano , Meningites Bacterianas/diagnóstico , Pró-Calcitonina , Sensibilidade e Especificidade , Punção Espinal
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