Characteristics of upper respiratory tract rhinovirus in children with allergic rhinitis and its role in disease severity.

Allergic rhinitis (AR) is a global health challenge that particularly affects the quality of life of children. Human rhinovirus (HRV) infection usually causes common cold in the upper respiratory tract (URT) and can also affect airway allergy development, such as asthma exacerbation, but its relationship with AR is poorly understood. The study aimed to gain insight into the characteristics of HRV that is prevalent in AR children and its role in AR severity. A total of 362 children with symptomatic AR were enrolled from southwestern China during 2022-2023, and nasal lavage samples were collected for HRV molecular characterization and cytokine measurement. HRV was detected in 40% of the AR children, with peak detection in autumn. The positive rate was not correlated with whether the subjects were under allergen-specific immunotherapy (AIT). Among the detected HRVs, 42% were species A, 36% were species B, and 22% were species C, involving 21 A genotypes, 6 B genotypes, and 7 C genotypes. HRV positivity was significantly associated with symptom severity (visual analog scale [VAS] score) and elevated levels of local nasal IgE, interleukin-25 (IL-25), IL-4, and CXCL13 in AR children who did not receive antiallergic treatment. All three species of HRV strains (A1B, A21, B27, B70, and C17) had been isolated and were able to infect respiratory epithelial tissue in vitro. Complete genome sequencing showed that the antigenic epitopes of the isolated HRVs had certain variations. Our work reveals the etiological characteristics of URT-HRV in AR children and suggests a role of HRV infection in the pathogenesis of childhood AR. IMPORTANCE: Our study revealed high human rhinovirus (HRV) detection rate in children with allergic rhinitis (AR), and HRV infection (A, B, or C species) is positively associated with the symptom severity in AR children. Elevated nasal IgE, interleukin-25 (IL-25), IL-4, and CXCL13 levels suggest a potential pathogenic mechanism by which HRV infection induces nasal type 2 immune/inflammation responses and local IgE production in AR patients. In addition, etiological analysis found that the main prevalent HRV species in AR children are A and B (~80%), which is different from acute respiratory infection and asthma exacerbation, where species A and C are dominant. The data reveal the distinct species prevalence characteristics of HRV infection in AR. Finally, we isolated all three species of HRV strains from nasal cavity of AR children with varying degrees of antigenic epitope mutations and in vitro infectivity, highlighting the importance of strengthening monitoring and intervention for respiratory HRV infection in AR children.

An unusually high prevalence of allergic rhinitis at high altitudes in 6-7 year old children - An epidemiological study.

Objectives: To compare the epidemiology and disease patterns of allergic rhinitis (AR) at 2 different altitudes in children aged 6-7 years, and subsequently to compare with and augment data from international studies. Materials and methods: This is a multistage, clustered and stratified random sample study. The study area comprises 2 distinct areas within Yunnan Province, China. Low altitude was represented by Xishuangbanna Prefecture (XB), while high altitude was represented by Diqing Prefecture (DiQ). Each study area was subdivided into 3 sub-areas, and children aged 6-7 years were randomly sampled based on proportion-weighted sampling. The area studied includes the well-known area of Shangri-La city. Questionnaires were distributed and jointly completed by study participants and their parents or guardians, under the guidance of professional medical staff. Results: 2796 valid questionnaires out of 2933 distributed were obtained (survey response rate 95.3%). The prevalence of AR is statistically significantly higher at high altitude (DiQ, 36.0%, 95%CI 33.2-38.8) as compared to low altitude (XB, 19.7%, 95%CI 17.8-21.6) (p < 0.001). Both areas studied had a greater prevalence of AR compared to international data. In both XB and DiQ, male gender, history of early antibiotic use, urban place of birth and place of residence, presence of smokers within the same household, family history of allergic diseases (such as atopic dermatitis), as well as higher parental educational level were all associated with a higher prevalence of AR (p < 0.05). In DiQ, the prevalence of AR in Han ethnicity was greater than that of ethnic minorities (p < 0.05). In XB, being a single child was associated with an increased prevalence of AR compared to those who had siblings (p < 0.05). Conclusion: Our study found that the prevalence of AR is relatively greater at higher altitudes. Genetic and environmental factors both play an important role in the pathogenesis of AR. While altitude may be an important environmental factor, confounding factors may include humidity, temperature and distribution pattern of common aeroallergens.

A Giant Anaplastic Lymphoma Kinase Positive Anaplastic Large Cell Lymphoma: Case Report.

BACKGROUND: Anaplastic lymphoma kinase-positive (ALK+) large cell lymphoma (ALCL) is a systemic lymphoma. The invasion of the head and neck bone and skin by ALK+ ALCL is relatively uncommon in children. METHODS: We describe a 13-year-old boy diagnosed with ALK+ ALCL. RESULTS: He went a surgery of sampling biopsy procedure. Then the boy was treated with six cycles of adjuvant chemotherapy with Non-Hodgkin's Lymphoma-Berlin-Frankfurt-Munster (NHL-BFM)-90 K3 arm. Then, he achieved partial remission (PR). CONCLUSIONS: It is common for children to develop ALCL, which grows rapidly. Therefore, a sampling biopsy procedure and NHL-BFM-90 K3 were necessary for the patient.

Comprehensive characterization of pyroptosis phenotypes with distinct tumor immune profiles in gastric cancer to aid immunotherapy.

OBJECTIVE: Pyroptosis is a form of programmed cell death that is essential for immunity. Herein, this study was conducted to uncover the implication of pyroptosis in immunomodulation and tumor microenvironment (TME) in gastric cancer. METHODS: Prognostic pyroptosis-related genes were extracted to identify different pyroptosis phenotypes and pyroptosis genomic phenotypes via unsupervised clustering analysis in the gastric cancer meta-cohort cohort (GSE15459, GSE62254, GSE84437, GSE26253 and TCGA-STAD). The activation of hallmark gene sets was quantified by GSVA and immune cell infiltration was estimated via ssGSEA and CIBERSORT. Through PCA algorithm, pyroptosis score was conducted. The predictors of immune response (TMB and IPS) and genetic mutations were evaluated. The efficacy of pyroptosis score in predicting immune response was verified in two anti-PD-1 therapy cohorts. RESULTS: Three different pyroptosis phenotypes with different prognosis, biological pathways and tumor immune microenvironment were established among 1275 gastric cancer patients, corresponding to three immune phenotypes: immune-inflamed, immune-desert, and immune-excluded. According to the pyroptosis score, patients were separated into high and low pyroptosis score groups. Low pyroptosis score indicated favorable survival outcomes, enhanced immune responses, and increased mutation frequency. Moreover, low pyroptosis score patients displayed more clinical benefits from anti-PD-1 and prolonged survival time. CONCLUSION: Our findings uncovered a nonnegligible role of pyroptosis in immunomodulation and TME multiformity and complicacy in gastric cancer. Quantifying the pyroptosis score in individual tumors may tailor more effective immunotherapeutic strategies.

[Analysis of related factors for postoperative recurrence of antrochoanal polyps in children].

Objective:To analyze the correlation between nasal resistance and lung function in children with allergic rhinitis（AR）, and explore whether AR children with increased nasal resistance are accompanied by potential lower respiratory tract involvement. Methods:A total of 88 children diagnosed with AR from December 2021 to December 2022 were selected as the study group, while 20 normal children were selected as the control group during the same period. Both the study group and the control group children underwent lung function tests, bronchodilator tests, and nasal resistance measurements. Spearman correlation analysis and multiple linear regression analysis were performed on the results of nasal resistance and lung function tests to explore the relationship and influencing factors between the two groups.According to the results of nasal resistance measurement, children with increased nasal resistance and abnormal lung function were divided into a mild increase in nasal resistance with abnormal lung function group and a moderate to severe increase in nasal resistance with abnormal lung function group. The degree of increased nasal resistance was analyzed to determine whether it would affect lung function. Results:The FEF25, FEF50, and FEF75 levels in the study group were significantly lower than those in the control group（P<0.05）. The FEV1of children with moderate to severe increase in AR nasal resistance was significantly lower than that of children with mild increase in AR nasal resistance（P<0.05）. There was a correlation between nasal resistance and FEV1/FVC, R20 in AR children, and FEV1/FVC, R20 were the influencing factors of nasal resistance in AR children（P<0.05）. There was no correlation between total serum IgE, lung function, and bronchodilation test in AR patients（P>0.05）. Conclusion:The nasal ventilation function of AR patients has changed, and there is a downward trend in small airway function. Children with moderate to severe increase in AR nasal resistance have a more significant decrease in lung ventilation function than those with mild increase. The nasal resistance of AR children is influenced by FEV1/FVC and R20, and FEV1/FVC and R20 decrease as the nasal resistance value increases. The improvement rate of lung function and FEV1 are not influencing factors for the elevation of total serum IgE.

The Role of CT Scan in Pediatric Airway Foreign Bodies.

Objective: We aim to determine the utility of CT scan as a method to accurately confirm pediatric airway foreign bodies (AFBs), the current gold standard of which is chest X-ray as the primary imaging modality in the investigation screening of AFBs with progression to microlaryngobronchoscopy. Methods: A retrospective cohort study of children diagnosed with suspected AFBs between July 2019 and June 2020 was conducted. The primary outcome of missed AFBs from radiologic investigations was recorded. Results: A total of 226 children with an average age of 1.94 years were included in this study. One hundred and two children were eventually admitted to the hospital for microlaryngobronchoscopy. A total of 89 cases were initially examined by chest X-ray with the diagnosis confirmed in 26 cases. The initial examination was chest CT scan in 105 cases, of which the diagnosis was confirmed in 46 cases. The initial examination was chest CT scan with airway reconstruction in 32 cases, and the diagnosis was confirmed in 17 cases. Patients with negative chest CT scan with airway reconstruction were observed to have resolution of symptoms with no further need for bronchoscopy. Conclusion: Chest CT scan with airway reconstruction had the highest rate of confirmed diagnosis of pediatric AFBs on initial scanning, followed by chest CT scan, and finally chest X-ray with fluoroscopy; there was no missed diagnosis in chest CT scan with airway reconstruction. Chest CT scan with airway reconstruction can accurately and quickly detect AFBs and reduce unnecessary bronchoscopy.

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

BACKGROUND: At present, the hereditary hearing loss homepage, ( https://hereditaryhearingloss.org/ ), includes 258 deafness genes and more than 500 genes that have been reported to cause deafness. With few exceptions, the region-specific distributions are unclear for many of the identified variants and genes. METHODS: Here, we used a custom capture panel to perform targeted sequencing of 518 genes in a cohort of 879 deaf Chinese probands who lived in Yunnan. Mutation sites of the parents were performed by high-throughput sequencing and validated by Sanger sequencing. RESULTS: The ratio of male to female patients was close to 1:1 (441:438) and the age of onset was mainly under six. Most patients (93.5%) were diagnosed with moderate to severe deafness. Four hundred and twenty-eight patients had variants in a deafness gene, with a detection rate of 48.7%. Pathogenic variants were detected in 98 genes and a number of these were recurrent within the cohort. However, many of the variants were rarely observed in the cohort. In accordance with the American College of Medical Genetics and Genomics, pathogenic, likely pathogenic and variants of uncertain significance accounted for 34.3%, 19.3% and 46.4% of all detected variants, respectively. The most common genes included GJB2, SLC26A4, MYO15A, MYO7A, TMC1, CDH23, USH2A and WFS1, which contained variants in more than ten cases. The two genes with the highest mutation frequency were GJB2 and SLC26A4, which accounted for 28.5% (122/428) of positive patients. We showed that more than 60.3% of coding variants were rare and novel. Of the variants that we detected, 80.0% were in coding regions, 17.9% were in introns and 2.1% were copy number variants. CONCLUSION: The common mutation genes and loci detected in this study were different from those detected in other regions or ethnic groups, which suggested that genetic screening or testing programs for deafness should be formulated in accordance with the genetic characteristics of the region.

A Novel Exosome-Relevant Molecular Classification Uncovers Distinct Immune Escape Mechanisms and Genomic Alterations in Gastric Cancer.

Objective: Gastric cancer (GC) is a highly heterogeneous malignant carcinoma. This study aimed to conduct an exosome-based classification for assisting personalized therapy for GC. Methods: Based on the expression profiling of prognostic exosome-related genes, GC patients in The Cancer Genome Atlas (TCGA) cohort were classified using the unsupervised consensus clustering approach, and the reproducibility of this classification was confirmed in the GSE84437 cohort. An exosome-based gene signature was developed via Least Absolute Shrinkage and Selection Operator (LASSO) regression analysis. Immunological features, responses to immune checkpoint inhibitors, and genetic alterations were evaluated via computational methods. Results: Two exosome-relevant phenotypes (A and B) were clustered, and this classification was independent of immune subtypes and TCGA subtypes. Exosome-relevant phenotype B had a poorer prognosis and an inflamed tumor microenvironment (TME) relative to phenotype A. Patients with phenotype B presented higher responses to the anti-CTLA4 inhibitor. Moreover, phenotype B occurred at a higher frequency of genetic mutation than phenotype A. The exosome-based gene signature (GPX3, RGS2, MATN3, SLC7A2, and SNCG) could independently and accurately predict GC prognosis, which was linked to stromal activation and immunosuppression. Conclusion: Our findings offer a conceptual frame to further comprehend the roles of exosomes in immune escape mechanisms and genomic alterations of GC. More work is required to evaluate the reference value of exosome-relevant phenotypes for designing immunotherapeutic regimens.

How Can We Do Better? Learning From 617 Pediatric Patients With Airway Foreign Bodies Over a 2-Year Period in an Asian Population.

Background: Foreign body (FB) in the pediatric airway is a prevailing and crucial emergency with presenting symptoms often overlapping with other common pediatric conditions. There are limited number of large cohort studies in an Asian population which demonstrate the diversity of symptoms, investigations which will aid in obtaining the diagnosis, and management. Using this large cohort, we aim to evaluate the type and location, clinical presentations and outcomes of medical management related to pediatric airway FB in an Asian society. Methods: This is a retrospective study of all airway FB treated in Kunming Children's Hospital, China from February 2016 to June 2019. Six hundred and thirty-two clinical and operative records of all airway FB were retrieved and reviewed from the hospital's central electronic medical records. A total of 617 patients were included in our study. Results: The age ranged from 4 months to 12 years (mean = 1.74 years). The duration of symptoms ranged from 1 h to 605 days, with the diagnosis established at an average 9.16 days. Almost all had multiple symptoms, most commonly cough (98.5%) followed by noisy breathing (98.2%). Majority of the FBs (95.5%) were organic and the rest inorganic. Of the organic FBs, peanut was the most common (31.6%), followed by walnut (13.3%) and sunflower seeds (9.2%). Comparatively, 80.8% of the organic FBs were retrieved incomplete while 85.7% of the inorganic FBs were completely intact. Multiple FBs were noted in 43.3% of the patients, with 2.4% of them in different locations. Conclusions: Airway FB can be easily missed with resultant delay in diagnosis. In an Asian population, walnut and sunflower/pumpkin seeds feature more prominently compared to Western populations. Sunflower seed FBs tend to present earlier and are found intact in the trachea. Rigid bronchoscopy is the most common technique used to remove such FBs and pulmonary-related complications post-operatively, though rare, are the most common adverse outcomes. Preventive strategies targeting the appropriate age group and this type of FB may be useful in an Asian population.

Management of button batteries in the upper gastrointestinal tract of children: A case-series study.

Button batteries are the second most frequently-ingested foreign bodies and can lead to serious clinical complications within hours of ingestion. The purpose of this study was to analyze the outcomes of 14 children with button batteries lodged in the upper gastrointestinal tract.Totally 14 children with button batteries lodged in the upper gastrointestinal tract were included. The diagnosis was made primarily by the history of button battery ingestion, physical examination and chest-abdomen X-ray examination.The button batteries lodged in the esophagus were removed by esophagoscope, and those in the gastrointestinal tract were under observation. Among 10 children with batteries in the first esophageal stenosis, 9 were cured and 1 suffered from tracheoesophageal fistula. One case of battery in the second esophageal stenosis was dead due to intercurrent aortoesophageal fistula. Two cases of batteries in the third esophageal stenosis were cured after removal, and 1 case of the battery in the gastrointestinal tract discharged spontaneously.Ingested button batteries are mainly lodged in the esophageal stenoses and are easy to cause esophageal injury and severe complications. Early detection, prompt treatment, strengthening observation and regular follow-up after discharge may help to decrease the incidence of complications and improve the outcomes.

Enhanced Efficacy of Dust Mite Sublingual Immunotherapy in Low-Response Allergic Rhinitis Patients after Dose Increment at 6 Months: A Prospective Study.

BACKGROUND: Several studies have suggested that sublingual immunotherapy (SLIT) involves a dose-response relationship and inadequate dosage might not achieve a favorable clinical effect. OBJECTIVE: The aim of this prospective study was to investigate the efficacy and safety of increasing SLIT dosage at 6 months in patients with house dust mite-induced allergic rhinitis (AR) who had low response to treatment. METHODS: A total of 157 AR participants aged 4-60 years were enrolled and received SLIT with Dermatophagoides farinae drops. After 6 months of SLIT, patients were interviewed and then classified into a high-response (HR) group and a low-response (LR) group based on the combined symptom and medication score (CSMS) reduction rate. Patients with a CSMS reduction rate over 50% were defined as HR and continued the original dose, while patients with a CSMS reduction rate ranging from 20 to 50% were defined as LR and received an increased dose (percentage of dosage increment, 33.33% for patients aged <14 years and 50% for patients aged ≥14 years). Patients with a CSMS reduction rate below 20% were considered nonresponse (NR) and recommended to withdraw from SLIT. CSMS, visual analog scale (VAS), and adverse events were assessed at 0.5, 1, 2, and 3 years during the 3-year treatment. RESULTS: A total of 54 and 56 patients completed the treatment in the HR and LR groups, respectively. The CSMS and VAS of both groups decreased significantly at 6 months (p < 0.05). Significant differences between the two groups were found in CSMS and VAS at 6 months and 1 year (p < 0.05), but not in later follow-ups (p > 0.05). The improvement of adults in the LR group was significantly lower than that of children at 6 months (p < 0.05), but there was no difference in later follow-ups (p > 0.05). There was no difference in CSMS or VAS in patients with monosensitization and polysensitization in the same treatment group at 1 year and in subsequent visits (p> 0.05). Overall, 47 patients withdrew from this study due to NR (n = 22) and other reasons (n = 25). CONCLUSIONS: Six months might be a critical time point for efficacy assessment and dosage adjustment for AR patients after SLIT. In patients with low response, dosage enhancement within a certain range may enhance the effectiveness of SLIT.

A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.

Waardenburg syndrome type 2 (WS2) is a rare genetic disorder, characterized by bright blue eyes, moderate to profound hearing loss and pigmental abnormalities of the hair and skin. Between 10 and 20 mutations in the SRY­box 10 (SOX10) gene were previously identified to be associated with WS2. The present study aimed to identify the genetic causes of WS2 in a Chinese family. Clinical and molecular analyses were performed to genetically characterize a Chinese family with two cases of WS2. The clinical data of the proband were collected using a questionnaire. The genomic DNA was extracted from peripheral blood samples of each individual in the family, and 168 candidate genes associated with hearing loss were sequenced using the Illumina HiSeq 2000 and confirmed by Sanger sequencing. A heterozygous nonsense mutation [substitution; position 127; cytosine to thymine (c.127C>T)] was identified in exon 2 of SOX10 (transcript ID: NM_006941.3) in the proband and the mother; however, not in other family members or healthy controls. The novel nonsense heterozygous mutation may cause the replacement of codon 43 [arginine (Arg)] with a stop codon (Arg43stop), leading to premature termination of protein translation. The novel nonsense heterozygous mutation c.127C>T in the SOX10 gene was considered to be the cause of WS2 in the family. This mutation has not been identified in any databases, to the best of the authors' knowledge, including The Single Nucleotide Polymorphism Database, The Human Gene Mutation Database, 1000 Genomes Project and ClinVar and Exome Sequencing Project v. 6500.

Diagnosis and surgical treatment of cervical macrocystic lymphatic malformations in infants.

The treatment of lymphatic malformations (LMs) represents a great clinical challenge. The present study reported on the treatment of 68 infants with cervical macrocystic LMs using surgical resection. The cases were retrospectively analyzed. All patients underwent pre-operative ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI) examinations. The surgery was performed under general anesthesia with endotracheal intubation. Ultrasonograms showed that 24 cases were monolocular, 44 were multilocular, 16 had no echo, 20 had a uniform low-level echo and 32 had a non-uniform low-level echo. CT showed non-enhancing low-attenuating cystic lesions and attenuation values of 10-45 HU. The magnetic resonance images of the LMs showed a low signal intensity on T1-weighted imaging (WI) and a high signal intensity on T2-WI. Complete resection was achieved in 56 patients, subtotal resection in eight and partial resection in four. Two complications were noted, including reversible paresis of the marginal mandibular branch of the facial nerve and a surgical-site infection. One patient in whom partial resection was achieved had recurrence at ~2 months after the surgery. Ultrasonography, CT and MRI clearly demonstrated the size, shape, extent and adjacent structures of LMs, which aided in surgical planning and assessment of potential risks. Surgical excision increased the chances of cure and was relatively safe for infants aged <1 year. Location and extent, rather than age, were determined to be the most important factors for successful surgical treatment.

Core­shell lipid polymer nanoparticles for combined chemo and gene therapy of childhood head and neck cancers.

Pediatric head and neck cancers account for overall 12% of all pediatric cancers. Despite recent advances in therapeutic modalities, children with tumor metastasis have poor prognosis. Therefore, there is an unmet need for new and effective treatment modalities for pediatric head and neck cancers. The present study describes a simple and efficient method for fabrication of cationic lipid­polymer hybrid nanoparticles (CLPNs) for co­delivery of cisplatin (CDDP) and DNA (CDDP/DNA CLPNs) for the therapy of childhood head and neck cancers. CDDP/DNA CLPNs were prepared by the modified double emulsion solvent evaporation method with self­assembly. CDDP­loaded CLPNs (CDDP CLPNs), CDDP-loaded polymeric nanoparticles (PNPs) (CDDP PNPs), and DNA­loaded Lipofectamine® 2000 (DNA LIPO) were also prepared for comparison. The results illustrated that the concentration of the cationic lipid has influence on the characteristics of CLPNs. In vitro anticancer effect, in vitro transfection efficiency, in vivo antitumor and gene delivery efficacy of CDDP/DNA CLPNs have advantages over other formulations tested. In conclusion, outstanding delivery ability of CLPNs for both CDDP and DNA could combine the therapeutic efficiency of both drug and gene for the treatment of pediatric rhabdomyosarcoma (RMS).

Proton pump inhibitor pantoprazole inhibits the proliferation, self­renewal and chemoresistance of gastric cancer stem cells via the EMT/ß­catenin pathways.

The cancer stem cell (CSC) model suggests that a small subset of cancer cells possess stem cell properties and plays a crucial role in tumor initiation, metastasis and resistance to anticancer therapy. Exploration of the specific therapies targeting at CSCs has been a crucial issue in antitumor research. Gastric cancer (GC) cells often exist in an ischemic microenvironment with acidic conditions in vivo, thus maintenance of cellular pH homeostasis is important for the survival and function of GC cells. Proton pump inhibitors (PPIs) may prevent intracellular proton extrusions which consequently reduce cancer cell survival under acidic conditions. The effects of PPIs on the suppression of the viability and invasiveness of GC cells have been reported, but the functional role of pantoprazole (PPZ) in GC cells remains unknown. In this study, we found that when cells were treated with PPZ, the 5­fluorouracil (5­FU) chemosensitivity was upregulated, meanwhile the sphere formation ability and the relative expression levels of stem cell markers CD44, CD24, ABCG2, EpCAM and Lgr5 were significantly decreased. It was hypothesized that PPZ inhibits the GC CSCs. Successively a sphere formation culture was performed to establish CSC models and the effect of PPZ on GC CSCs from SGC-7901 and HGC­27 cells was explored. The addition of PPZ reduced the relative expression of CSC markers and anti­drug markers accompanied by a decrease in proliferation, 5­FU chemoresistance and self­renewal capacity via epithelial­mesenchymal transition (EMT)/ß­catenin pathways. The study suggests that PPZ could be a promising novel specific therapeutic strategy for targeting GC CSCs.

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.

OBJECTIVE: Waardenburg syndrome is a congenital genetic disorder. It is the most common type of syndromic hearing impairment with highly genetic heterogeneity and proved to be related by 6 genes as follows: PAX3, MITF, SNAI2, EDN3, EDNRB and SOX10. This article aims to identify the genetic causes of a Chinese WS child patient. METHODS: A Chinese WS child was collected for clinical data collection by questionnaire survey. DNA samples of proband and his parents were extracted from peripheral blood samples. Six candidate genes were sequenced by the Trusight One sequencing panel on the illumina NextSeq 500 platform. RESULTS: A novel nonsense heterozygous mutation was found in the coding region of exon 2 in the SOX10 gene of proband. The novel nonsense heterozygous mutation could cause the replacement of the 55th lysine codon by stop codon (484T > C, C142R) and further more possibly cause terminating the protein translation in advance. However, both proband's parents had no mutation of genes above mentioned. CONCLUSION: The gene mutation of SOX10 [NM_006941.3 c.163A > T] is a novel nonsense mutation. No record of this mutation has been found in dbSNP, HGMD, 1000 Genomes Project, ClinVar and ESP6500 databases. It meets the condition of PS2 of strong evidence in 2015 ACMG Standards and Guidelines.

[Diagnosis and surgical resection of faciocervical lipomas in children].

OBJECTIVE: To discuss the clinical characteristics, imaging findings, surgical treatment and effectiveness of faciocervical lipomas in children. METHOD: Twenty children with lipomas who were performed surgical resection under the tracheal intubation anesthesia, of which 3 cases located in face and 17 cases located in neck were retrospectively analyzed. Computed tomography (CT) was used in 8 cases and magnetic resonance imaging (MRI) in 6 cases for differential diagnosis. CT and MRI were used to diagnose 6 patients pre-operatively. RESULT: The image of computed tomography (CT) revealed that 15 cases showed oval and flat circular area and 5 cases showed lobulated lesion. The CT value was negative typically. The signal was inhomogeneous in MRI. The patients' magnetic resonance imaging (MRI) presented a high signal intensity on T1 and T2WI. The hyperintense signal can be suppressed in fat-suppression T2WI sequence. The hypointense of tumor signals fell in tandem surrounding adipose tissue. All the patients got satisfied curative effect after operation. There were no complications such as trachyphonia, bucking and dyspnea. Following up for 6 months to 2 years,no recurrence case occurred. CONCLUSION: Lipomas generally occur in adult patients, quite rare in children. Imaging examination is helpful in the differential diagnosis of lipoma. Surgical resection is the only effective treatment for lipomas at present.

[Radiological research of maxillary sinus development of children and adolescent without sinusitis in Kunming of Yunnan].

OBJECTIVE: To investigate the maxillary sinus development and provide data for sinus surgery on children. METHOD: Two thousand two hundred and thirty-eight children were randomly selected among those who underwent skull and nasal sinus CT scanning because of certain symptoms and signs. Patients were divided into eighteen age cohorts based on their age at the time of the scan. Anterior-posterior, transverse diameters and vertical height of the maxillary sinus were measured and statistically analyzed. RESULT: The maxillary sinus volume was enlarging even in adult, hut the growth of maxillary sinus was relatively stable in adolescent. The difference of transverse and anterior-posterior diameters of maxillary sinus had no statistical significance between female and male (P > 0.05), while there was statistically significant difference in the vertical height of maxillary sinus (P < 0.05). CONCLUSION: The results will aid the physicians when correlating the clinical and radiographic findings of pediatric patients who are being evaluated for sinus disease and potential surgical intervention.