RESUMEN
Gastric cancer (GC) is one of the most prevalent malignant tumors of the gastrointestinal system in the globe. The effect of PIEZO2 on the immune function and pathological features of gastric cancer remains to be explored. The Online database of cancer genes and GSE54129 have been used to analyze the clinical characteristics of PIEZO2 expression. We looked at the relationship between PIEZO2 and the immune systems of GC patients. The TIDE algorithm was used to explore the value of PIEZO2 in immunotherapy. Investigated the enrichment of PIEZO2 gene ontology and associated signal pathways using Online gene databases. The results show that overexpression of PIEZO2 was identified as an independent risk factor for patients with GC who had poor overall survival. Individuals may have a better prognosis if they had poorly differentiated GC and increased PIEZO2 expression (P < 0.05). We demonstrated a strong correlation between PIEZO2 and immune cells. The majority of immune checkpoint and immunological-related genes were associated with PIEZO2 expression. And PIEZO2 might be used as an immunotherapy target. Finally, the differential PIEZO2 genes in GC were mostly implicated in the processes of inflammation, immunological response, and tumor metastasis, according to functional analysis. PIEZO2 has a negative correlation with cell stemness and mutation levels in patients with GC and a positive correlation with immune cell infiltration and gene expression in the tumor microenvironment. These findings point to PIEZO2 as a potential new immunotherapy target of GC.
Asunto(s)
Neoplasias Gástricas , Humanos , Biomarcadores , Inmunoterapia , Canales Iónicos/genética , Oncogenes , Pronóstico , Neoplasias Gástricas/genética , Neoplasias Gástricas/terapia , Microambiente Tumoral/genéticaRESUMEN
Background: The causation of Glycemic Traits and risks of Melanoma remains unknown. We used Mendelian Randomization (MR) to assess the links between Glycemic Traits and Melanoma. Method: Pooled data from Genome-Wide Association Studies (GWAS) were utilized to examine the relationships that exist between Fasting Insulin (n = 26), 2-h Glucose (n = 10), Fasting Glucose (n = 47), HbA1c (n = 68), and Type-2 Diabetes (n = 105) and Melanoma. We evaluated the correlation of these variations with melanoma risk using Two-Samples MR. Result: In the IVW model, Fasting Glucose (OR = 0.99, 95%CI = 0.993-0.998, p < 0.05, IVW), Type-2 Diabetes (OR = 0.998, 95%CI = 0.998-0.999, p < 0.01, IVW) and HbA1c (OR = 0.19, 95%CI = 0.0415-0.8788, p < 0.05, IVW) was causally associated with a lower risk of Melanoma. In all models analyzed, there was no apparent causal relationship between Fasting Insulin and Melanoma risk. There was no obvious causal difference in the IVW analysis of 2-h Glucose and Melanoma, but its p < 0.05 in MR Egger (OR = 0.99, 95%CI = 0.9883-0.9984, p < 0.05, MR Egger), and the direction was consistent in other MR analyses, suggesting that there may be a causal relationship. Conclusion: The results of this study suggest that a higher risk of Fasting Glucose, Type-2 Diabetes, 2-h Glucose, and HbA1c may be associated with a lower risk of Melanoma. However, no causal relationship between fasting insulin and melanoma was found. These results suggest that pharmacological or lifestyle interventions that regulate plasma glucose levels in the body may be beneficial in the prevention of melanoma.
RESUMEN
BACKGROUND: The role of underlying genetic factors in the pathogenesis of nonsyndromic orofacial clefts (NSOC) remains poorly understood. Although genomewide association studies (GWASs) of NSOC have successfully identified a large number of novel genetic risk loci, association results of replication studies are inconsistent across different populations. METHODS: Six single nucleotide polymorphisms (SNPs) (rs7922405 at 10q26.3, rs73039426 at 19q13.11, rs7552 at 2p24.2, rs1788160 at 8q22.2, rs9381107 at 6p24.3, and rs17095681 at 10q25.3) were analyzed for an association with NSOC in 1062 participants of Chinese descent (596 patients and 466 controls). We applied the multifactor dimensionality reduction (MDR) method to detect potential gene-gene (G × G) interactions in the six SNPs. RESULTS: The genotype or allele frequencies of SNPs rs7922405, rs73039426, and rs7552 showed significant differences between the controls and patients with NSOC, whereas no association was shown between three SNPs (rs1788160, rs17095681, and rs9381107) and NSOC. MDR analysis did not reveal significant G × G interactions for susceptibility to NSOC. CONCLUSION: We confirmed that three genes (rs7922405 of MGMT, rs73039426 of RHPN2, and rs7552 of FAM49A) may contribute to NSOC in Chinese populations. MGMT and RHPN2 are associated with NSOC, which is herein demonstrated for the first time.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Encéfalo/anomalías , Labio Leporino/genética , Fisura del Paladar/genética , Metilasas de Modificación del ADN/genética , Enzimas Reparadoras del ADN/genética , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Estudio de Asociación del Genoma Completo/métodos , Péptidos y Proteínas de Señalización Intracelular/genética , Polimorfismo de Nucleótido Simple/genética , Factores de Transcripción/genética , Proteínas Supresoras de Tumor/genética , Pueblo Asiatico/genética , Epistasis Genética , Femenino , Frecuencia de los Genes , Genotipo , Humanos , MasculinoRESUMEN
BACKGROUND: Nonsyndromic orofacial clefts (NSOC) are the most common orofacial congenital defect with a complex etiology. Genome-wide association studies have identified paired box protein 7 (PAX7) and netrin-1 (NTN1) as candidate susceptibility genes for NSOC in both European and Asian populations. Here, possible associations between single-nucleotide polymorphisms (SNPs) in or near PAX7 and NTN1 were investigated in relation to risk of NSOC in a northern Chinese population. METHODS: A total of 602 individuals with NSOC and 510 controls were recruited from northern China. Polymerase chain reaction-ligation detection reactions were used to analyze 4 SNPs (rs742071, rs6659735, rs766325, and rs4920520) of PAX7 and 2 SNPs (rs9904526 and rs9788972) of NTN1. Investigations of polymorphisms and risk of NSOC were conducted by using the PLINK software. RESULTS: NTN1 rs9788972 AG was found to be associated with an increased risk of NSOC compared to the GG homozygous genotype (ORâ=â1.43, 95% CIâ=â1.11-1.86, Pâ=â.006). When the multifactor dimensionality reduction method was applied, NTN1 rs9788972 still exhibited an increased risk for NSOC (Pâ=â.008). In contrast, SNPs in PAX7 were not associated with any increased risk of NSOC. CONCLUSION: NTN1 rs9788972 is identified as a risk locus for NSOC susceptibility in a northern Chinese population.
Asunto(s)
Encéfalo/anomalías , Labio Leporino/genética , Fisura del Paladar/genética , Predisposición Genética a la Enfermedad , Factores de Crecimiento Nervioso/genética , Factor de Transcripción PAX7/genética , Polimorfismo de Nucleótido Simple , Proteínas Supresoras de Tumor/genética , Pueblo Asiatico/genética , China , Labio Leporino/etnología , Fisura del Paladar/etnología , Femenino , Estudio de Asociación del Genoma Completo , Técnicas de Genotipaje , Humanos , Desequilibrio de Ligamiento , Masculino , Netrina-1 , Reacción en Cadena de la PolimerasaRESUMEN
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects, and the etiology of NSCL/P involves both genetic and environmental factors. Genome-wide association study (GWAS) identified a novel susceptibility locus of ventral anterior homeobox 1 (VAX1) in patients with NSCL/P. However, the association of single nucleotide polymorphisms (SNPs) of VAX1 with NSCL/P is inconclusive due to the differences in the racial and ethnic populations. The aim of this study was to replicate the association between VAX1 and NSCL/P in a northern Chinese Han population. METHODS: Our study included 186 patients with NSCL/P and 223 healthy individuals from northern China. Five SNPs (rs4752028, rs10787760, rs7078160, rs6585429, and rs1871345) on VAX1 were genotyped using the SNaPshot method. RESULTS: Recessive genetic model analysis revealed that homozygous genotype CC of VAX1 rs4752028 was associated with an increased risk of NSCL/P (odds ratioâ=â1.89, 95% confidence intervalâ=â1.12-3.19, Pâ=â0.017), but the results were not significant after the Bonferroni correction for multiple comparisons. The allele and genotype frequencies of rs10787760, rs7078160, rs6585429, and rs1871345 and the allele frequencies of rs4752028 showed no significant differences between cases and controls. Haplotype and SNP-SNP interaction analyses did not detect any significant association of VAX1 with the occurrence of NSCL/P. CONCLUSION: VAX1 rs4752028 was weakly associated with NSCL/P development in the studied northern Chinese Han population.
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Encéfalo/anomalías , Labio Leporino/genética , Fisura del Paladar/genética , Proteínas de Homeodominio/genética , Factores de Transcripción/genética , Pueblo Asiatico/genética , Estudios de Casos y Controles , China , Femenino , Humanos , Masculino , Polimorfismo de Nucleótido SimpleRESUMEN
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common congenital malformation with a worldwide prevalence rate of 0.4-2.0% among live births, depending on race and ethnic background. Single-nucleotide polymorphisms (SNPs) of genes may contribute to NSCLP risk, although the risk factors and pathogenesis of NSCLP remain unknown. The objective of this study was to investigate association of SNPs of noggin (NOG) and sprouty homolog 2 (SPRY2) with NSCLP risk. A total of 188 NSCLP patients and 228 healthy controls from northern China were recruited for genotyping of these SNPs using the SNaP shot method. The frequency of the NOG rs227731 genotype was significantly lower among NSCLP cases than among controls. Logistic regression analysis showed rs227731 CC genotype was associated with decreased NSCLP susceptibility (OR = 0.31, 95% CI = 0.12-0.80) compared to the AA homozygote. However, no association between SPRY2, SNPs, and NSCLP risk were observed in this cohort of patients. In conclusion, NOG rs227731 genotype was associated with decreased NSCLP risk in a Northern Chinese population.
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Proteínas Portadoras/genética , Labio Leporino/genética , Fisura del Paladar/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Péptidos y Proteínas de Señalización Intracelular/genética , Proteínas de la Membrana/genética , Polimorfismo de Nucleótido Simple/genética , Adolescente , Adulto , Alelos , Estudios de Casos y Controles , Niño , Preescolar , Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Femenino , Haplotipos , Humanos , Lactante , Masculino , Oportunidad Relativa , Adulto JovenRESUMEN
OBJECTIVE: To further assess the roles of the ABCA4 (ATP-binding cassette, sub-family A, member 4) gene in NSCL/P, we investigated two tag SNPs in ABCA4 (rs481931 and rs560426) in a northern Chinese Han population where the prevalence of NSCL/P is high. MATERIALS AND METHODS: The two SNPs were examined for association with NSCL/P in 344 patients and 324 healthy controls. Peripheral blood samples were acquired at study enrollment, and DNA samples were extracted. SNPs were genotyped using a mini-sequencing (SNAPSHOT) method. RESULTS: We observed a significant correlation between the ABCA4 SNP rs560426 and NSCL/P (p=0.0041) but no evidence of association between rs481931 and NSCL/P. The G/G genotype at the rs560426 SNP in ABCA4 gene had an odd ratios of 2.39 (95%CI: 1.38-4.14, p=0.0041) compared with the A/A genotype, and a similar significance was noted in the CL/P subgroup (ORA/G=1.60, 95%CI: 1.09-2.34, ORG/G=2.96, 95%CI: 1.63-5.37 and ORG/G+A/G=1.80, 95%CI: 1.25-2.60, p=0.0007). CONCLUSIONS: Our study provides further evidence regarding the roles of genetic markers in ABCA4 in NSCL/P development in this northern Chinese Han population. G allele of rs560426 may be a risk factor for developing NSCL/P.
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Transportadoras de Casetes de Unión a ATP/genética , Labio Leporino/genética , Fisura del Paladar/genética , Polimorfismo de Nucleótido Simple , Alelos , Estudios de Casos y Controles , Niño , Preescolar , China , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Factores de RiesgoRESUMEN
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common complex birth defect. MAFB (v-maf musculoaponeurotic fibrosarcoma oncogene homolog B) is a new gene that may be involved in susceptibility to cleft lip with or without cleft palate (CL/P). To further assess its role in NSCLP, we investigated 3 identified single nucleotide polymorphisms in MAFB (rs13041247, rs6065259, and rs11696257) and examined them for association with NSCLP in 344 patients and 324 healthy controls in a northern Chinese Han population with a high incidence of the syndrome. Peripheral blood samples were taken when patients enrolled in the study and DNA samples were extracted from the blood. The 3 single nucleotide polymorphisms were genotyped using a mini-sequencing method (Snapshot(®) Multiplex System for SNP genotyping, Life Technologies Ltd, Paisley, UK). We found that rs6065259 was the most important single nucleotide polymorphism in MAFB (OR6065259-AA=0.45; 95% CI: 0.28 to 0.71; p=0.0027), followed by rs13041247; however, no association was found between rs11696257 and NSCLP. Our study provides further evidence regarding the role of MAFB variations in the development of NSCLP in this northern Chinese Han population.
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Labio Leporino/genética , Fisura del Paladar/genética , Leucina Zippers/genética , Factor de Transcripción MafB/genética , Polimorfismo de Nucleótido Simple/genética , Adenina , Estudios de Casos y Controles , Niño , Preescolar , China/etnología , Citosina , Etnicidad/genética , Femenino , Frecuencia de los Genes/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Genotipo , Guanina , Haplotipos/genética , Humanos , Desequilibrio de Ligamiento/genética , Masculino , TiminaRESUMEN
A novel in vivo fluorescence spectroscopic diagnostic method has been developed in an animal model to make a quantified precancer diagnosis. In the study, 40 golden hamsters were randomly divided into four groups (groups A, B, C, and D), with group A being the control group and the other three groups being inducted at different precancer stages. A 1% Rose Bengal (RB) solution was used for the fluorescence spectroscopic diagnosis. A parameter K defined as K = I(RB)/I(auto) was introduced to reflect the amount of RB in the tissue, where I(RB) and I(auto) represent the fluorescence peak intensity of the RB in the tissue and the autofluorescence intensity of tissue at 580 nm, respectively. The average K values of the four groups were calculated and statistically analyzed by analysis of variance (ANOVA), which revealed statistically significant differences within each group as well as between groups (p < 0.001). After analysis by Clementine 11.1 C&R Tree modeling (CART), the following diagnostic criteria were set: normal, K ≤ 8.91; simple hyperplasia, 8.91 < K ≤ 41.92; mild dysplasia, 41.92 < K ≤ 70.79; moderate and severe dysplasia, K >70.79. The sensitivity and specificity to detect precancerous lesions compared with scalpel biopsy were calculated. The results of this study showed that the spectrofluorometric method mediated by RB could accurately discriminate different precancer stages.
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Neoplasias de la Boca/diagnóstico , Lesiones Precancerosas/diagnóstico , Espectrometría de Fluorescencia/métodos , Análisis de Varianza , Animales , Cricetinae , Modelos Animales de Enfermedad , Neoplasias de la Boca/patología , Lesiones Precancerosas/patología , Distribución Aleatoria , Rosa BengalaRESUMEN
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that is presumably caused by genetic factors alone or gene alterations in combination with environmental changes. A number of studies have shown an association between NSCLP and single-nucleotide polymorphisms (SNPs) in the interferon regulatory factor 6 (IRF6) gene in several populations. The transcription factor AP-2a (TFAP2A), which is involved in regulating mid-face development and upper lip fusion, has also be considered a candidate gene contributing to the etiology of NSCLP. The potential importance of IRF6 and TFAP2A in the NSCLP is further highlighted by a study showing that the two molecules are in the same developmental pathway. To further assess the roles of the IRF6 and TFAP2A in NSCLP, we investigated two identified IRF6 SNPs (rs2235371, rs642961) and three TFAP2A tag SNPs (rs3798691, rs1675414, rs303050) selected from HapMap data in a northern Chinese population, a group with a high prevalence of NSCLP. These SNPs were examined for association with NSCLP in 175 patients and 160 healthy controls. We observed a significant correlation between IRF6 rs642961 and NSCLP, and a lack of association between IRF6 rs2235371 polymorphisms and NSCLP in this population. This investigation indicated that there is no association between the three SNPs in the TFAP2A and NSCLP, suggesting that TFAP2A may not be involved in the development of NSCLP in the northern Chinese population. Our study provides further evidence regarding the role of IRF6 variations in NSCLP development and finds no significant association between TFAP2A and NSCLP in this northern Chinese population.
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Labio Leporino/genética , Fisura del Paladar/genética , Factores Reguladores del Interferón/genética , Factor de Transcripción AP-2/genética , Adolescente , Adulto , Pueblo Asiatico/genética , Niño , Preescolar , China , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Adulto JovenRESUMEN
Non-syndromic cleft lip with or without cleft palate (NSCLP) is the most common craniofacial birth defect. This complex genetic disorder results from interactions between genes and environmental factors. Numerous genes have been reported in studies demonstrating association between the cleft lip and palate phenotypes and the alleles at single-nucleotide polymorphisms (SNPs) within specific genes. Recently, the cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2) has been revealed to be a novel candidate gene for NSCLP. The SNPs rs1546124, rs4783099 and rs16974880 in CRISPLD2 were highly significant in Caucasian and Hispanic multiplex families but showed no association in Colombian and Irish populations. In the current study, we examined these three SNPs in a northern Chinese population and found an association between these polymorphisms and NSCLP in both single-marker and haplotype analyses. Our data further strengthen the conclusion that altered CRISPLD2 is associated with NSCLP susceptibility.
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Moléculas de Adhesión Celular/genética , Labio Leporino/genética , Fisura del Paladar/genética , Factores Reguladores del Interferón/genética , Polimorfismo de Nucleótido Simple/genética , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Preescolar , China , Citosina , Exones/genética , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Guanina , Haplotipos/genética , Humanos , Lactante , Masculino , Timina , Regiones no Traducidas/genética , Adulto JovenRESUMEN
AIMS: To investigate the relationship between paxillin expression and clinicopathological features and metastasis in salivary adenoid cystic carcinoma (SACC). METHODS: A total of 47 SACC were assessed histochemically for paxillin expression. Paxillin immunoreactivity was compared with histological type, clinical stage and distant metastasis. RESULTS: Paxillin expression was identified in 57.45% of SACC as cytoplasmic staining and the expression was correlated with distant metastasis and clinical stage (P < 0.05), but not with histological type. CONCLUSIONS: Our observations indicate that paxillin expression is upregulated in SACC. High expression of paxillin was correlated with a more advanced stage and metastasis in SACC, suggesting that paxillin is a disease marker in advanced SACC and SACC with distant metastasis, and, consequently, may have value as a therapeutic target for SACC.
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Carcinoma Adenoide Quístico/patología , Paxillin/análisis , Neoplasias de las Glándulas Salivales/patología , Adulto , Anciano , Carcinoma Adenoide Quístico/secundario , Colorantes , Citoplasma/ultraestructura , Espacio Extracelular , Femenino , Histocitoquímica , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Estadificación de Neoplasias , Neoplasias de la Parótida/patología , Glándulas Salivales Menores/patología , Neoplasias de la Glándula Submandibular/patología , Adulto JovenRESUMEN
Oral squamous cell carcinoma (OSCC) is a common malignancy, in which lymph node metastasis is a major determinant of outcome. The pathway deregulation resulting from a large number of somatic genetic alterations in the development of the tumor, plays an important role in lymphatic metastasis process. To detect the deregulated pathways to lymphatic metastasis in OSCC, we performed pathway-oriented analysis using gene expression profile from 16 samples without lymphatic metastasis and 27 samples with lymphatic metastasis. We identified seven significantly (p < 0.05) deregulated pathways: the erythropoietin (EPO) Signaling Pathway, Signaling Pathway from G-Protein Families, Cytokine-cytokine receptor interaction, the Janus kinase (JAK)-signal transducer and activator of transcription (STAT) signaling pathway, Ribosome, Colorectal cancer, B cell receptor signaling pathway. The biological relevance of these pathways to OSCC is the focus of ongoing studies, as well as complex interactions and crosstalk between them. These pathways might provide additional clues about factors that regulate the course for OSCC patients and might offer new opportunities for therapeutic intervention.
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Biomarcadores de Tumor/metabolismo , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/secundario , Neoplasias de la Boca/metabolismo , Neoplasias de la Boca/patología , Transducción de Señal , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Perfilación de la Expresión Génica , Humanos , Metástasis Linfática , Masculino , Persona de Mediana Edad , Mucosa Bucal/metabolismo , Mucosa Bucal/patología , Estadificación de Neoplasias , Análisis de Secuencia por Matrices de OligonucleótidosRESUMEN
Small ubiquitin-like modifier 1 (SUMO1) haploinsufficiency results in cleft lip and palate in animal models. However, no studies have linked SUMO1 to non-syndromic cleft lip with or without cleft palate (NSCLP) in humans. In the present study, we investigated the potential association between SUMO1 single nucleotide polymorphisms (SNPs) and risk for human NSCLP. From 181 patients and 162 healthy controls, we found statistically significant correlations between a 4-SNP SUMO1 haplotype and NSCLP. These data are the first to suggest a role for SUMO1 gene variation in human NSCLP development.
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Labio Leporino/genética , Fisura del Paladar/genética , Proteína SUMO-1/genética , Adolescente , Adulto , Pueblo Asiatico/genética , Niño , Preescolar , Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Femenino , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Adulto JovenRESUMEN
OBJECTIVE: To explore the clinical strategies for the screening of newborn eye diseases and obtain information concerning the incidence of newborn ocular diseases. METHODS: Newborns in a baby-friendly nursery were evaluated for mass screening of eye diseases 2 to 7 days after birth (including reaction to light stimulation, external ocular examination and test for pupil red reflex) and those with abnormalities were subjected to diagnostic examination (external ocular examination with a hand-held slit-lamp, pupil red reflex and mydriatic examination). Newborns in neonatal intensive care unit (NICU) were subjected to screening 5 to 14 days after birth and then, together with those with high risk factors, received a comprehensive examination for screening and diagnostic purposes. The suspected cases were referred to department of ophthalmology for definite diagnosis. RESULTS: Among the 15,398 (91.65%) newborns who were enrolled the screening program, 12 different eye diseases (involving 1266 cases) were detected, with a prevalence of 8.22%. Of these eye diseases, 7 were congenital ocular diseases, involving 809 cases (5. 254%) and including congenital ptosis in 2 cases (0.013%), congenital corneal opacity in 6 cases (0.039%), persistent pupillary membrane in 724 cases (4.702%), congenital cataract in 15 cases (0.097%), persistent hyaloid artery in 54 cases (0.351%), obstruction of nasolacrimal duct in 7 cases (0.046%) and lacrimal gland prolapse in 1 cases (0.007%). Five different diseases (457 cases, 2. 968%) detected were acquired in nature, including neonatal conjunctivitis in 391 case (2.539%), vitreous hemorrhage in 6 cases (0.039%), retinal hemorrhage in 34 cases (0.221%), and neonatal dacryocystitis in 23 cases (0.149%). Of 27 premature babies with body weight lower than 1500 g, 3 had retinopathy of prematurity (ROP, 6 eyes involved). CONCLUSIONS: Early intervention is of great importance for the prevention and treatment of neonatal ocular diseases. The screening of newborn ocular diseases is not only feasible but also effective in the monitoring and control of the eye diseases in neonates.
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Anomalías del Ojo/epidemiología , Oftalmopatías/epidemiología , Tamizaje Neonatal , China , Femenino , Humanos , Recién Nacido , Masculino , Proyectos Piloto , PrevalenciaRESUMEN
OBJECTIVE: To explore the model and the feasibility of newborn hearing and ocular disease simultaneous screening program and to study the birth prevalence of newborn hearing loss and newborn ocular diseases. METHODS: The universal newborn hearing screening (UNHS) was performed using transient otoacoustic emission (TEOAE) in well baby nursery and by a two-stage TEOAE and auto auditory brainstem response (AABR) protocol in neonatal intensive care unit (NICU). The UNHS was simultaneous done with newborn ocular disease screening program. The examination technical method was following: the response to light, external inspection of the eyes and lids, pupil examination, red reflex examination, funduscope examination after pupil dilation for referral (for all newborn in NICU). The infants who were referred by two-stage hearing screening and/or had high-risk factors of hearing loss received following-up and routine audiological evaluation and personalized intervention from 6 months to 3 years of age. The cases had positive sign and (or) abnormal results of the ocular disease screening were referred for further examination by pediatric ophthalmologists. RESULTS: A total of 16 800 children born in Jinan Maternal and Child Hospital from October 1, 2002 to April 30, 2005. Of these infants, 15 398 cases (91.7%) had access to the simultaneous screening program for hearing and ocular diseases. The incidence of congenital sensorineural hearing loss (SNHL) among infants who did UNHS was 0.312% (48/15 398) in bilateral and 0.227% (35/15 398) in unilateral; Of the 4 cases of congenital SNHL complicated with newborn ocular diseases: 1 profound SNHL (bilateral), auditory neuropathy with congenital cataract (bilateral), 1 mild SNHL (bilateral) with membrana papillaris perseverance (left) and 1 mild SNHL (bilateral) with retina vein dilatation (bilateral), 1 mild SNHL (right) with persistent hyaloid artery (bilateral). In all 15 398 newborns, 15 neonates with congenital cataract were detected (22 eyes, 0.10%). Twenty seven neonates with less than 1500 g birth weight admitted to NICU, retinopathy of prematurity was detected in 3 neonates (6 eyes). CONCLUSION: Hearing loss and ocular diseases was not rare in neonatal and infancy. Newborn hearing and ocular disease simultaneous screening program was not only feasible but also effective in detecting hearing loss and (or) ocular disorders. Early intervention was important for the prevention or treatment of neonatal hearing loss and (or) ocular diseases, such as newborn hearing loss with congenital cataract, retinopathy of prematurity and so on.
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Oftalmopatías/prevención & control , Pérdida Auditiva/prevención & control , Tamizaje Neonatal/métodos , Oftalmopatías/congénito , Oftalmopatías/epidemiología , Estudios de Factibilidad , Femenino , Pérdida Auditiva/epidemiología , Pruebas Auditivas , Humanos , Recién Nacido , Masculino , Pruebas de VisiónRESUMEN
OBJECTIVE: To explore the feasibility of applying flash visual evoked potentials (FVEPs) for visual function test newborns and infants and bring out the consultable laboratory values of FVEPs. The technology of FVEP could be used as diagnostic tests for those who failed the screening and the infants who were cared for in the NICU. METHODS: 41 normal neonates (Asunto(s)
Potenciales Evocados Visuales
, Factores de Edad
, Femenino
, Humanos
, Lactante
, Recién Nacido
, Masculino
, Factores Sexuales