Objective To compare the alaryngeal speakers'voice acoustic parameters and intra-tracheal pressure when they spoke different vowels.Methods 24 patients after tracheo-esophageal shunt phonation by the anastomosis of the membranous portion of the tracheal section with the anterior wall of esophagus after total laryngectomy and 16 esophageal speakers enrolled in this study. The voice acoustic parameters were measured when they spoke soft /a/ and soft /i/. The intra-tracheal pressure of 20 TE speakers was measured when spoke /a/ and /i/.Results There were no significant differences between vowel /a/ and /i/ in the two alaryngeal speaker group. The pressure of TE speakers after Shang's procedrue for comfortable /i/ was higher than that for /a/, and there was significant difference.Conclusion There were the same clinical meanings in evaluating alaryngeal voice acoustic aspect. when using vowel /a/ and /i/. However when using different vowel, the intrtracheal pressure was different in TE speakers.

To illustrate the location of HSP-70 (heat\|shock protein\|70)correlative response in acute stage between middle and inner ear when mammalian middle ear infected by bacteria, and investigate the possibility to cause autoimmune inner ear injure by HSP-70 that induced by otitis media. An animal model of acute otitis media was established by inoculating Klebsiella pneumoniae (K.p) into middle ear of guinea pigs. Animals were sacrificed 1,3,5 and 7days after inoculation.Investigation of the locations of HSP-70 in middle ear mucosa and cochlea structures were detected by immunocytochemical technique .The results showed that light stain of HSP-70 existed in the superficial epithelium cells of normal mucosa and cochlea structures such as stria vascularis, spiral ligament and Corti′s organ.Heavy stain appeared in the same sites in the infected ears . No different positive sites was observed in all animals.Our findings suggested that HSP-70 were expressed in middle ear mucosa and inner ear structures during acute middle ear infective stage.The HSP-70 provide a material base for causing autoimmune inner ear injure during middle ear bacteria infection.

OBJECTIVE To evaluate the clinical feature and surgical treatment of large nasopharyngeal angiofibromas with intracranial orcavernous sinus extension.METHODS A total of 16 male patients were collected with a age ranged from 11 to 35 years(mean,17.21 years).All patients underwent resection of nasopharyngeal angiofibromas with intracranial or cavernous sinus extension.The procedure included lateral rhinotomy,craniofacial combined approach,median labiomandibulotomy combined with a trans-palatal,transmaxillary approach and middle face degloving approach.RESULTS Sixteen cases received 28 procedures.Seven patients had no recurrence but 9 patients had recurrence at least once.Twenty eight procedures include 11 times lateral rhinotomy,6 times craniofacial combined approach,2 times frontotemporal approach,4 times transpalatal approach,2 transmaxillary approach,1 median labiomandibulotomy combined with a trans-palatal and 2 times middle face degloving approaches.CONCLUSION Radical operative resection is the main treatment method for nasopharyngeal angiofibroma with intracranial or cavernous sinus extension.The first operation recurrence rate is 8/15(53.0%) and sphenoid tumor residual may often be ignored in the operation and it is the main site of tumor recurrence.Craniofacial,median labiomandibulotomy combined with a trans-palatal and middle face degloving approaches were the best choices for large nasopharyngeal angio fi broma with intracranial or cavernous sinus extension.

OBJECTIVE: To define the nature and origin of a chromosomal aberration in a child with unexplained growth and development retardation, and to analyze its genotype-phenotype correlation. METHODS: A child who had presented at the Affiliated Children's Hospital of Zhengzhou University on July 9, 2019 was selected as the study subject. Chromosomal karyotypes of the child and her parents were determined with routine G-banding analysis. Their genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array). RESULTS: Karyotyping analysis combined with SNP array suggested that the chromosomal karyotype of the child was 46,XX,dup(7)(q34q36.3), whilst no karyotypic abnormality was found in either of her parents. SNP array has identified a de novo 20.6 Mb duplication at 7q34q36.3 [arr[hg19] 7q34q36.3(138335828_158923941)×3] in the child. CONCLUSION The partial trisomy 7q carried by the child was rated as a de novo pathogenic variant. SNP array can clarify the nature and origin of chromosomal aberrations. Analysis of the correlation between genotype and phenotype can facilitate the clinical diagnosis and genetic counseling.
Female ; Humans ; Trisomy/genetics* ; Phenotype ; Genotype ; Karyotyping ; Chromosome Banding

OBJECTIVE: To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS). METHODS: A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed. RESULTS: The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.
Female ; Humans ; Male ; Pregnancy ; Chloride Channels/genetics* ; Genetic Counseling ; Genetic Testing ; Genomics ; High-Throughput Nucleotide Sequencing ; Mutation ; Child, Preschool

OBJECTIVE: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). METHODS: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members. RESULTS: Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.
Humans ; Infant ; Male ; Family ; Genetic Testing ; Genomics ; Mutation ; Tuberous Sclerosis/genetics* ; Child, Preschool ; East Asian People

Objective:To analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome.Methods:A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Potential variant was screened by whole exome sequencing, and candidate variant was verified by Sanger sequencing. This study was approved by the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-011).Results:The child has presented with global developmental delay, microcephaly, special facial features and behavioral problems. Genetic testing revealed a de novo variant of the BCL11A gene, namely c. 561_567delACACGCA(p.Q187fs*7), which was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:The heterozygous variant of BCL11A gene probably underlay the Dias-Logan syndrome in this child. Above finding has enriched the phenotypic and mutational spectrum of the BCL11A gene and provides a basis for genetic counseling and clinical decision-making.

Objective:To investigate the short-term efficacy and safety of cardiac contractility modulation (CCM) in patients with heart failure.Methods:This was a cross-sectional study of patients with heart failure who underwent CCM placement at the First Affiliated Hospital of Xinjiang Medical University from February to June 2022. With a follow-up of 3 months, CCM sensation, impedance, percent output, and work time were monitored, and patients were compared with pre-and 3-month postoperative left ventricular ejection fraction (LVEF) values, and 6-minute walk test distance and New York Heart Association (NYHA) cardiac function classification, and the occurrence of complications was recorded.Results:CCM was successfully implanted in all 9 patients. Seven(7/9) of them were male, aged (56±14) years, 3 patients had ischaemic cardiomyopathy and 6 patients had dilated cardiomyopathy. At 3-month postoperative follow-up, threshold was stable, sense was significantly lower at follow-up than before (right ventricle: (16.3±7.0) mV vs. (8.2±1.1) mV, P<0.05; local sense: (15.7±4.9) mV vs. (6.7±2.5) mV, P<0.05), and impedance was significantly lower at follow-up than before (right ventricle (846±179) Ω vs. (470±65) Ω, P<0.05, local sense: (832±246) Ω vs. (464±63) Ω, P<0.05). The CCM output percentage was (86.9±10.7) %, the output amplitude was (6.7±0.4) V, and the daily operating time was (8.6±1.0) h. LVEF was elevated compared to preoperative ((29.4±5.2) % vs. (38.3±4.3) %, P<0.05), the 6-minute walk test was significantly longer than before ((96.8±66.7)m vs. (289.3±121.7)m, P<0.05). No significant increase in the number of NYHA Class Ⅲ-Ⅳ patients was seen (7/9 vs. 2/9, P>0.05). The patient was not re-hospitalised for worsening heart failure symptoms, had no malignant arrhythmic events and experienced significant relief of symptoms such as chest tightness and shortness of breath. No postoperative complications related to pocket hematoma, pocket infection and rupture, electrode detachment, valve function impairment, pericardial effusion, or cardiac perforation were found. Conclusions:CCM has better short-term safety and efficacy in patients with heart failure.