ABSTRACT
To investigate the role of narrow band imaging (NBI) endoscopy in diagnosing oral premalignant and malignant lesions. NBI and white light (WLI) endoscopy were performed on 85 patients (47 females, 38 males, aged from 12 to 83 years old, the medium age was 58 years) with 144 oral lesions from July 2016 to October 2017 in the First Affiliated Hospital of Xiamen University. NBI findings were classified into 5 types according to the Ni's classification and compared with histopathological results. Sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) of NBI and WLI were calculated. Accuracy of NBI on premalignant and malignant lesions were compared with that of WLI. The connection between NBI findings and pathological results were investigated. SPSS 22.0 software was used to analyze the data. Sensitivity, specificity, PPV, and NPV of NBI WLI were 96.5% vs 81.2%, 98.3% vs 98.3%, 98.8% vs 98.6%, and 95.1% vs 78.4%, respectively. NBI findings showed high accordance with the phathological results (kappa=0.943,0.01). However, consistency between WLI findings and the phathological results was relatively low (kappa=0.765, 0.01). NBI was more accurate in diagnosing both premalignant (0.01) and malignant lesions (especially for high-grade intraepithelial neoplasia, 0.01) than WLI. There was remarkable correlation between NBI findings and the phathological results (0.836, 0.01). NBI shows high accuracy in detecting premalignant and malignant lesions of oral cavity. Ni's NBI classification is helpful to diagnose the premalignant and early malignant lesions as well as to evaluate tumor invasion. Thus, NBI can contribute more to early diagnosis and therapy of premalignant and malignant lesions of oral cavity.
ABSTRACT
MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. In this article, the three children with this disease were all boys. Cases 1 and 2 had delayed motor development, and language loss or delay as initial manifestations, and case 3 had recurrent infection as initial manifestation. Physical examination showed hypotonia and negative pathological signs in each case. Case 1 had tonic-clonic seizures and electroencephalography showed focal seizures, for which he was given oxcarbazepine, levetiracetam, and clonazepam as the antiepileptic treatment to control seizures. Case 3 experienced one absence seizure and three head-nodding seizures with normal electroencephalographic findings during these seizures, and therefore, he was not given antiepileptic treatment. In each case, recurrent infection was improved with the increase in age, but there were no significant improvements in language or intelligence. Array-based comparative genomic hybridization (aCGH) showed MECP2 duplication in X chromosome in each case, and so they were diagnosed with MDS. MDS should be considered for children with delayed development complicated by recurrent infection and epileptic seizures, and early aCGH helps with the diagnosis of this disease.
Subject(s)
Child , Humans , Infant , Male , Comparative Genomic Hybridization , Mental Retardation, X-Linked , Genetics , Methyl-CpG-Binding Protein 2 , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between genotype and phenotype of microdeletion and microduplication syndromes (MMSs) and the pathogenesis of pathogenic copy number variations (CNVs).</p><p><b>METHODS</b>A total of 50 children with MMSs diagnosed by chromosomal microarray analysis (CMA) from June 2013 to September 2015 were enrolled, and the clinical manifestations and features of pathogenic CNVs were analyzed.</p><p><b>RESULTS</b>The main clinical manifestations of children with MMSs included mental retardation, developmental delay, short stature, and unusual facies, with the presence of abnormalities in multiple systems. There were 54 pathogenic CNVs in total, consisting of 36 microdeletion segments and 18 microduplication segments, with sizes ranging from 28 kb to 48.5 Mb (mean 13.86 Mb). Pathogenic CNVs often occurred in chromosomes X, 15, and 1.</p><p><b>CONCLUSIONS</b>The clinical manifestations of MMSs are not specific, and a genotype-first approach can be used for diagnosis. Mode of inheritance, type of recombination (deletion or duplication), size of segment, and functional genes included helps with the interpretation of CNVs of de novo mutations, and in-depth research on rare pathogenesis may become breakthrough points for the identification of new MMSs.</p>
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Chromosome Deletion , Chromosome Duplication , DNA Copy Number Variations , Developmental Disabilities , Genetics , Intellectual Disability , Genetics , Phenotype , Retrospective Studies , SyndromeABSTRACT
<p><b>BACKGROUND</b>Attention deficit hyperactivity disorder (ADHD) is one of the most common mental disorders during childhood, characterized by the core symptoms of hyperactivity, impulsivity and inattention and puts great burden on children themselves, their families and the society. Osmotic release oral system methylphenidate (OROS-MPH) is a once-daily controlled-release formulation developed to overcome some of the limitations associated with immediate-release methylphenidate (IR-MPH). It has been marketed in China since 2005 but still lacks data from large-sample clinical trials on efficacy and safety profiles. The aim of this study was to evaluate the effectiveness and safety of OROS-MPH in children aged 6 to 16 years with ADHD under naturalistic clinical setting.</p><p><b>METHODS</b>This 6-week, multi-center, prospective, open-label study enrolled 1447 ADHD children to once-daily OROS-MPH (18 mg, 36 mg or 54 mg) treatment. The effectiveness measures were parent-rated Inattention and Overactivity With Aggression (IOWA) Conners I/O and O/D subscales, physician-rated CGI-I and parent-rated global efficacy assessment scale. Blood pressure, pulse rate measurement, adverse events (AEs) and concomitant medications and treatment review were conducted by the investigator and were served as safety measures.</p><p><b>RESULTS</b>A total of 1447 children with ADHD (mean age (9.52 ± 2.36) years) were enrolled in this trial. Totally 96.8% children received an OROS-MPH modal dose of 18 mg, 3.1% with 36 mg and 0.1% with 54 mg at the endpoint of study. The parent IOWA Conners I/O score at the end of week 2 showed statistically significant (P < 0.001) improvement with OROS-MPH (mean: 6.95 ± 2.71) versus the score at baseline (10.45 ± 2.72). The change in the parent IOWA Conners O/D subscale, CGI-I and parent-rated global efficacy assessment scale also supported the superior efficacy for OROS-MPH treatment. Fewer than half of 1447 patients (511(35.3%)) reported AEs, and the majority of the events reported were mild (68.2%). No serious adverse events were reported during the study.</p><p><b>CONCLUSION</b>This open-label, naturalistic study provides further evidence of effectiveness and safety of OROS-MPH in school-aged children under routine practice.</p>