Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites / 临床耳鼻咽喉头颈外科杂志

Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group（homozygous mutation and compound heterozygous mutation）, monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.

Radiomics features of ascending and descending nasopharyngeal carcinoma / 中南大学学报(医学版)

OBJECTIVES@#To evaluate the application value of CT-based radiomics features for the ascending and descending types of nasopharyngeal carcinoma (NPC).@*METHODS@#A total of 217 NPC patients (48 ascending type and 169 descending type), who obtained CT images before radiotherapy in Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University from February 2015 to October 2017, were analyzed retrospectively. All patients were randomly divided into a training set (=153) and a test set (=64). Gross tumor volume in the nasopharynx (GTVnx) was selected as regions of interest (ROI) and was analyzed by radiomics. A total of 1 300 radiomics features were extracted via IBEX. The least absolute shrinkage and selection operator (LASSO) logistic regression was performed to choose the significant features. Support vector machine (SVM) and random forest (RF) classifiers were built and verified.@*RESULTS@#Six features were selected by the LASSO from 1 300 radiomics features. Compared with SVM classifier, RF classifier showed better classification performance. The area under curve (AUC) of the receiver operating characteristic (ROC) curve, accuracy, sensitivity, and specificity were 0.989, 0.941, 1.000, and 0.924, respectively for the training set; 0.994, 0.937, 1.000, and 0.924, respectively for the validation set.@*CONCLUSIONS@#CT-based radiomics features possess great potential in differentiating ascending and descending NPC. It provides a certain basis for accurate medical treatment of NPC, and may affect the treatment strategy of NPC in the future.

Misdiagnosic analysis and treatment of pyriform sinus fistula in children / 中华耳鼻咽喉头颈外科杂志

Objective@#To discuss the misdiagnosis of pyriform sinus fistula and to better understand this kind of illness.@*Methods@#The analysis was based on twenty-eight patients with congenital pyriform sinus fistula aged from 11 months to 14 years, with the median age of 5 years, and who were surgically treated from January 2013 to January 2017 in Kunming Children′s Hospital.Twenty patients were misdiagnosed in other hospital.After the routine examination of neck ultrasound and enhanced CT, internal fistula was found by self-retaining laryngoscope, traced by methylene blue, and excised by high ligation.@*Results@#Twenty patients were misdiagnosed.The misdiagnosis time ranged from 6 months to 3 years.Under self-retaining laryngoscope, piriform fossa fistula were found in all patients.Nineteen fistula were found in the left and 1 in the right.The fistula in patients was unilateral.Seven cases were misdiagnosed as suppurative lymphadensitis, undergone abscess incisional drainage many times.Three cases were misdiagnosed as thyroglossal duct cyst and performed excision of thyroglossal duct cyst.One case was treated by extended Sistruck operation again because the doctor considered that excision of middle segment of hyoid bone was not enough and the fistula was not ligated completely.One case was misdiagnosed as second branchial cleft fistula on the right side of the neck.Nine cases were misdiagnosed as hyroid-associated diseases including 2 cases suppurative thyroiditis, 2 cases subacute thyroiditis and 5 cases thyroid neoplasms.Among them, 2 cases underwent partial thyroidectomy.All the patients were treated with high ligation of fistula under general anesthesia.The operation was smooth, and no hoarseness, bucking and pharyngeal fistula occurred after the operation.Postoperative follow-up time ranged from 12 months to 4 years and the median follow-up was 18 months without recurrence.The diagnosis was confirmed pathologically.@*Conclusions@#Pyriform sinus fistula in children was uncommon and easily misdiagnosed in clinic.The majority of physician including some otolaryngologists were lack of understanding of the disease.It should be regarded as one of the important differential diagnosis of neck mass in children.Children with recurrent left neck infection and/or abscess should be highly suspected.Self-retaining laryngoscopic examination can make a definite diagnosis and high ligation of the fistula through the external neck approach can achieve good therapeutic effect.

Application of Diffusion Tensor Image in Diagnosis of Vascular Parkinsonism / 中国医科大学学报

Objective To study the pathogenesis of lower limb motor disorder in vascular parkinsonism(VP)using diffusion tensor image(DTI). Methods A case?control study was performed in a cohort of 16 VP patients and 32 PD patients. Patients were all recruited from the first affiliated hospital of China Medical University from Dec. 2011 to Dec. 2012. The lower limb motor function of those patients was assessed using measurement scales. All patients received magnetic resonance image(MRI)and diffusion tensor image(DTI). Results Patients in VP group showed more seri?ous movement disorders such as freezing of gait(gait ignition failure)than these in PD group,and the movement disorders of their lower limbs prog?ress more rapidly in VP group than the PD group. Movement disorders of their lower limbs in VP group were related to fibers in bilateral frontal lobes (P=0.008). Movement disorder of their lower limbs in PD group were related to fibers in substantia nigra(P=0.030). There are statistically signifi?cant differences in both the FA values of substantia nigra,bilateral frontal lobes and the ADC values of frontal lobes,and the pars compacta and pars reticulata of substantia nigra between these two groups(all P<0.05). Conclusion Movement disorders of bilateral lower limbs are more seriously manifested in VP patients than in PD patients. The onset movement dysfunction of bilateral lower limbs is closely related to fibers in the frontal lobe.

Sclerotherapy for faciocervical lymphatic malformations under digital subtraction angiography in children / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the efficacy and advantages of fluoroscopy sclerotherapy treatment for the faciocervical lymphatic malformations (LMs) under digital subtraction angiography (DSA) in children. Method:Retrospective analysis of 48 cases of lymphatic malfromations who were treated with intratumoral injection of Pingyangmycin and iohexol under DSA and fluoroscopy, and followed up in Kunming children's hospital. Result:Forty-eight cases of children were treated 1 to 5 intratumoral injection of Pingyangmycin and iohexol that carried out under DSA and fluoroscopy. Follow up ranged from 6 to 18 months, 22 cases (45.83%) were cured, 19 cases (39.85%) were markedly effective, 5 cases (10.42%) were effective and 2 cases (4.17%) were ineffective. The total effective rate was 95.83% with no scarring, pigmentation and significant postoperative complications. Conclusion:Intratumoral injection of Pingyangmycin under DSA is an effective and safe method for treatment of lymphatic malformations in children and has the advantages of positioning accuracy, less damage, fewer complication and no influence on apperarence and function.

Sclerotherapy for faciocervical macrocystic lymphatic malformations in infants / 中华实用儿科临床杂志

Objective To investigate the therapeutic effect of Pingyangmycin combined with Triamcinolone Acetonide on the huge faciocervical lymphatic malformations (LMs) in infants.Methods Sixty-seven infants with LMs located in head and neck from January 2009 to June 2014 were retrospectively analyzed in Kunming Children's Hospital.Thirty-five males and 32 females were enrolled,aged from 1 month to 4 years,with a median age of 1.3 years.Computed tomography and ultrasonography were used to evaluate the location,size and extent of LMs before treatment in all the patients.The size of lesion varied from 5.2 cm ×7.5 cm to 9.2 cm × 10.5 cm.All patients were given local injection of Pingyangmycin combined with Triamcinolone Acetonide after puncturing fluid with uhrasonography guiding under general anesthesia.The injection was repeated every 30 d when necessary.Results The number of injections varied from 2 to 5 times,with a median number of 3.9 times.All cases were followed up for 5 to 36 months.Thirty-two cases (62.68％) were cured,improvement in 19 cases (28.36％) and no effect in 6 cases (8.96％).The total effective rate was 91.04％.There was no severe allergic reaction or pulmonary fibrosis.Secondary operation was performed after 6 months in 12 cases.Two post-operative complications were found,1 was minor paralyses of mandibular branch of facial nerve,with mouth askew,the other was trachyphonia,who were both improved after rehabilitation treatment.Conclusions In order to avoid serious complications,the huge LMs may be given local injection of Pingyangmycin combined with Triamcinolone Acetonide after puncturing fluid with ultrasonography guiding.Graded sclerotherapy provides for a less invasive and shorter course of treatment.The complications and risk of secondary resection increase slightly if sclerotherapy has no curative effect.

Expression of serum IGF-1,IGFBP-3 in children with obstructive sleep apnea hyponea syndrome / 中国耳鼻咽喉头颈外科

[ABSTRACT]OBJECTIVETo analyse the levels of serum IGF-1、IGFBP-3 in children with obstructive sleep apnea hyponea syndrome (OSAHS).METHODS50 children with OSAHS and 10 healthy children were enrolled in this study. According to the respiratory disturbance index (AHI). Serum IGF-1、IGFBP-3 of children were determined and the results were analyze.RESULTSSerum level of IGF-1 had significant statistical differences between severe OSAHS group and controls (t=4.275,P0.05). Serum IGF-1 of severe OSAHS children was negatively correlated with AHI (r=-0.505,P0.05). Serum level of IGFBP-3 in OSAHS children had no significant correlation with AHI, lowest average blood oxygen saturation and SWS sleep (P>0.05).CONCLUSION Serum levels of IGF-1 in children are more easily affected by OSAHS than serum level of IGFBP-3. Growth retardation of children with OSAHS may be related to the decrease of IGF-1 concentration.

Diagnosis and surgical resection of faciocervical lipomas in children / 临床耳鼻咽喉头颈外科杂志

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.

Diagnosis and treatment of faciocervical lymphatic malformations in infant / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the treatment effect of infant lymphatic malformations (LMs) located in the head and neck.</p><p><b>METHODS</b>Fourty-six LMs located in the head and neck between 2009 and 2013 were retrospectively analyzed. There were 26 males and 20 females, aged from 9 months to 4 years, with a median age of 1.8 years.</p><p><b>RESULTS</b>Phase Isurgical resection was performed in 28 cases. The low concentrations of pingyangmycin was injected in 18 cases, and Phase II surgical resection was performed in 6 cases after 6 months, because of the large tumors and a wide range of invasion. Two post-operative complications were found, one was minor paralyses of mandibular branch of facial nerve, manifestied as mouth askew. Another was injured accessory nerve, manifestied as right upper limb lifting weakness, which improved after rehabilitation treatment.</p><p><b>CONCLUSIONS</b>Surgical treatment is effective to LMs. In order to avoid serious complications, the huge LMs and microcystic LMs may be given local injection of pingyangmycin after puncture fluid, and phase II surgical resection secondly if necessary.</p>

Study on bone marrow mesenchymal stem cells in repairing of radiation induced acute liver injury of rats / 中华放射医学与防护杂志

Objective To investigate the role of mesenchymal stem cells in the repair of radiation induced liver injury.Methods 12 female SD rats were irradiated with 20 Gy 6 MV X-rays on the right lobe of the liver,to establish the model of radiation induced liver injury.The rats were divided randomly into two groups as invention group and control group,and transplanted with 1 ml male mesenchymal suspension or 1 ml normal saline in 4 hours after radiotherapy.The morphological changes of liver were observed.The existence of sex determining gene Y(SRY)and the level of alpha-smooth muscle actin (a-SMA) were detected.Results Some injury of right lobe liver in two groups were observed,and the injury degree of right lobe liver in intervention group were lower than that of control group.The amount of SRY positive cells in the right lobe liver of intervention group was higher than that in the left lobe liver(t ＝ 3.77,P ＜0.05).The positive expression rate of a-SMA in right lobe liver of intervention group was lower than that of control group.Conclusions Acute radiation induced liver injury could lead BMSCs＇ homing in order to decrease the degree of liver fibrosis.

Analysis of respiration events of sleep disordered breathing in children / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the characteristics of respiration events of sleep disordered breathing in children.@*METHOD@#Thirty-two guide polysomnography was monitored in 203 snoring children. According to AHI and AI, they were divided into five groups and the results were analyzed by polysmith.@*RESULT@#The mean value of REM was higher than that of NREM. The mean value between apnea and hypopnea have significant differences (P or = 1 need research.

The therapeutic effects of three-dimensional conformal radiation therapy combined with transcathe-ter arterial chemoembolization for stage Ⅱ primary liver cancer / 中华放射肿瘤学杂志

Objective To evaluate the therapeutic effects of three-dimensional conformal radiation therapy (3DCRT) in combination with transcatheter arterial chemoembolization (TACE) for stage Ⅱ primary liver cancer. Methods Eighty-one patients were retrospectively analyzed, including 36 received 3DCRT combined with TACE (Group A) and 45 received TACE alone (Group B). The short-term therapeutic effects and 1-, 2-, 3-year survival rates, average survival time of the dead patients, and side effects were compared between the two groups. Results The follow-up rate was 100%. The numbers of patients finished 1-, 2- and 3-year follow-up were 55,19 and 6,respectively. The reponse rates were 72% in group A, and 60% in group B, which were not significant different (χ~2= 1.32, P > 0.05). The 1-, 2- and 3-year survival rates of the dead patients were 83%, 63% and 25% in group A and 75%, 37% and 8% in group B. The corresponding average survival time was 21 months and 16 months, respectively. The differences of 2- and 3-year survival rates were significant between group A and B. (χ~2= 4.87, P < 0. 05 ). The incidence and se-verity of side effects did not differ significantly between the two groups. Conclusions In patients with stage Ⅱ primary liver cancer, 3DCRT combined with TACE, being more effective than TACE alone, can prolong the long-term survival without increasing the toxicities.

Relationship between the polysomnography and body mass index in children / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study the effect of the obstructive sleep apnea hypopnea syndrome on children's growth and to discuss operative standards.@*METHOD@#Five hundred and eighty-two children who were 2.5 to 10 years old were monitored with polysomnography(PSG). The index included apnea and hypopnea index (AHI) and computed body mass index (BMI) which was measured with heights and weights.@*RESULT@#Comparing with the normal children in the same age period and the same sex, boys' BMI had distinguished differences (P or =2 and girls BMI had distinguished differences (P or =1.@*CONCLUSION@#We Suggests to define the diagnosis and operative standards of pediatric obstructive sleep apnea hypopnea syndrome at AHI > or =2.