Objective:To analyze the clinical phenotype and genetic basis for a child featuring familial short stature.Methods:A child who was admitted to Huzhou Maternal and Child Health Care Hospital on October 7, 2021 for growth retardation and pectus carinatum was selected as the study subject. Physical exam and medical imaging was performed. The child was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results:The child, a 1-year-old male, had manifested with slightly short stature ( Z = -2.03), midfacial dysplasia, and multiple skeletal dysplasia such as pectus carinatum, irregular vertebral morphology, and defect of lumbar anterior bones. His mother, maternal grandmother and great-maternal grandfather also had short stature. WES revealed that the child has harbored a heterozygous c. 2858dupA (p.Asp953GlufsTer476) frameshifting variant of the ACAN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 2858dup (p.Sp953Glufster476) variant was classified as likely pathogenic (PVS1+ PM2_Supporting). The patient has shown marked improved height after receiving 11 months of treatment with human recombinant growth hormone (supplemental dose) starting from 20 months of age. Conclusion:The ACAN: c. 2858dup (p.Asp953GlufsTer476) variant probably underlay the pathogenesis of short stature in this child.

Electrode array misplacement is a rare complication of cochlear implant. This article reports an 11-year-old boy who was mistakenly implanted the cochlear electrode array into the superior semicircular canal during the initial cochlear implant. After the diagnosis was confirmed, he underwent a second cochlear implant and the electrode array were successfully implanted into the cochlea. This article conducted a systematic review of the literature on electrode array misplacement, and the causes of electrode array misplacement were analyzed from different implantation position.
Male ; Humans ; Child ; Electrodes, Implanted ; Reoperation ; Cochlea ; Cochlear Implantation ; Cochlear Implants/adverse effects* ; Semicircular Canals/surgery*

Objective:To study the changes of food characters in early swallowing recovery in patients with different laryngeal function preservation surgery.Methods:Collected patients with laryngeal cancer hypopharyngeal cancer who underwent laryngeal function preservation surgery in Lihuili Hospital of Ningbo Medical Center from January 2019 to March 2020. By fiberoptic endoscopic evaluation of swallowing (FEES) combined with Penetration and Aspiration Scale (PAS), prospectively observed the aspiration and invasion of solid, paste, fluid and other food in the early stage of trial feeding in patients with laryngeal hypopharyngeal cancer undergoing open laryngeal function preservation.Results:Among the 69 patients, 21 had vertical partial laryngectomy and 19 had partial pharyngeal partial laryngectomy. 15 days after the operation, 2 groups of patients after solid and paste food adaptability scored (1.14±0.36), (1.29±0.56) and (2.53±2.04), (2.84±2.31) points, Friedman Mtest for comparison difference had statistical significance ( Mvalues were 23.463 and 22.227, P<0.01); the liquid food for adaptability scored (2.10±1.09), (4.42±2.24) points, the pairwise comparison of liquid, solid and paste showed statistically significant differences ( tvalues were-0.976 to 1.105, P<0.05). The pairwise comparison of the adaptability of the two groups on 20 days after surgery showed no statistically significant difference ( P>0.05).Throat on the cricoid cartilage resection-ring hyoid epiglottis anastomosis (SLCP-CHEP) was 17 cases, laryngeal glottis level partial resection was 12 cases; postoperative 15 days the adaptability on the behavior of three kinds of food grade 2 groups of patients (4.65±1.90), (5.59±1.46), (6.53±1.13) points and (6.67±1.07), (4.50±2.07), (6.92±0.79) points, respectively; Minspection differences were statistically significant ( Mvalues were 29.525, 22.136, P<0.01).The pairwise comparison of solid and paste food in the two groups 20 days after the operation showed no statistically significant difference ( P>0.05), while the difference of liquid and paste was statistically significant ( tvalues were-1.375 to-0.853, P<0.05). Conclusion:In the early recovery of patients undergoing laryngeal function preservation surgery, the vertical group and the partial pharyngeal partial laryngectomy group has better adaptability to solid and paste food. The horizontal group has better adaptability to paste, the CHEP group has better adaptability to solid, and the four groups has the worst adaptability to convection, the recovery time of convective mass between the CHEP group and the horizontal group was longer. To understand the adaptability of patients with different surgical methods to food traits at the early stage of trial feeding can help to implement targeted rehabilitation programs, carry out progressive diet training, and reduce the complications of misinvasion, aspiration, aspiration pneumonia and other complications in the recovery cycle.

OBJECTIVE：To study the effects of rat intestinal flora on the pharmacokinetic parameters of pyrazinamide and its active metabolite pyrazinoic acid. METHODS ：Totally 16 SD rats were randomly divided into trial group and control group ，with 8 rats in each group. Trial group was given mixed antibiotics （streptomycin sulfate+neomycin sulfate ）intragastrically to construct pseudoaseptic rat model. After modeling ，both groups were given pyrazinamide intragastrically （150 mg/kg）. Before and 0.167， 0.333，0.667，1，1.5，2，3，4，6，9 h after administration ，0.1 mL blood sample was collected from orbital venous plexus ，and 0.3 mL blood sample was collected from orbital venous plexus 12，24 h after administration. Using phenacetin as internal standard ， LC-MS/MS method was adopted to determine the plasma concentration of pyrazinamide and pyrazinoic acid. The determination was performed on Agilent ZORBAX SB-Aq column with mobile phase consisted of 0.2％ formic acid （containing 8 mmol/L ammonium acetate）-methanol（gradient elution ）at the flow rate of 1 mL/min. The column temperature was set at 30 ℃，and sample size was 10 μL. The ion source was ESI and the temperature of ion source was 500 ℃. The collision gas was nitrogen and the pressure was 10 psi. The temperature of mass transfer interface was 100 ℃. The mass spectrum monitoring mode was multi reaction monitoring ， and the collection mode was positive ion mode. The monitoring transition ion-pairs were m/z 124.0→79.0（pyrazinamide），m/z 125.1→79.1（pyrazinic acid ）and m/z 180.0→110.2（internal standard ）. The de-clustering potential and collision voltage were 55， 26 and 85 V，24，23 and 28 V，respectively. The pharmacokinetic parameters were calculated and compared by using DAS 2.1.1 software. RESULTS ：The linear ranges of pyrazinamide and pyrazinoic acid were 25-5 000 ng/mL（r＝0.997 6）and 100-12 500 ng/mL（r＝0.999 0）. The lower limits of quantification were 25 and 100 ng/mL，respectively. Intra-batch and inter-batch accuracy were 92.93％-100.50％，and RSDs of intra-batch and inter-batch precision and matrix effect tests were all lower than or equal to 8.42％（n＝6 or n＝3）. Compared with control group ，tmax of pyrazinamide in trial group was prolonged significantly （P＜0.01）； there was no statistical significance in other pharmacokinetic parameters between 2 groups（P＞0.05）. CONCLUSIONS ：The absorption of single dose pyrazinamide is delayed with the change of intestinal flora in rats.

Objective: To understand the behavioral problems of children infected with HIV, and to provide reference for further psychological intervention. Methods: The survey was conducted from January to December 2017. A total of 256 HIV-infected 10-16 years old school-aged children who were receiving highly active antiretroviral therapy (HAART) in Guangxi Zhuang Autonomous Region Center for Disease Control and Prevention were invited to participate. Another 256 children without HIV infection who were matched with sex and age were selected as the control group. Achenbach Children’s Behavior Scale was used to conduct psychological questionnaires in the two groups of children. Results: Activity, social competence, and learning ability in the study group scored lower than control group (P<0.05). In children with HIV infection group, score of social competence in boys and girls aged 10-11 years were (14.35±3.96) (15.26±5.00), respectively, and was (14.21±4.64) and (14.57±5.50) in boys and girls aged 12-16 years was significantly lower than age and sex-matched control group (19.38±6.77 and 18.09±5.16 in boys and girls aged 10-11 years, 17.26±6.88 and 17.84±6.76 in boys and girls aged 12-16 years) (P<0.05). The total detection rate of behavioral problems in the study group (13% and 10% in boys and girls aged 10-11 years, 17% and 13% in boys and girls aged 12-16 years) was significantly higher than that in the control group (5% and 3% in boys and girls aged 10-11 years, both 4% in boys and girls aged 12-16 years) (P<0.05). Conclusion Behavioral problems in HIV-infected children are prevalent, which worth more attention to carry out psychological intervention among this vulnerable population.

Objective? To explore the application of Gugging Swallowing Screen(GUSS) in swallowing rehabilitation of patients after laryngeal function preservation operation. Methods? Using convenience sampling method, 110 patients with first diagnosed laryngeal cancer who underwent laryngeal function preservation operation from February 2016 to February 2018 in two Class Ⅲ Grade A hospitals in Ningbo were selected as subjects. By complete random method, the patients were divided into control group (n=50) and intervention group (n=49). Patients in the control group were given routine nursing care, relying on the sphincter function of the residual larynx to gradually compensate for the recovery of swallowing function, and the nasogastric tube was removed after eating fluids without obvious cough. The intervention group used GUSS scale to guide swallowing rehabilitation training once they started eating. The nasogastric feeding tube was removed when GUSS score equaled or exceeded 17. The swallowing function, indwelling time of nasogastric tube, re-intubation rate of nasogastric tube, incidence of aspiration pneumonia and patients' confidence in recovery were compared between the two groups. Results? The recovery of swallowing function in the intervention group was better than that in the control group at 3 and 4 weeks after operation (P＜0.05). The self-efficacy score of intervention group was better than that of control group at 2, 3 and 4 weeks after operation (P＜0.05). The indwelling time of nasogastric tube in the intervention group was shorter than that in the control group (P＜ 0.05), and there was no statistical difference in the re-intubation rate of nasogastric tube between the two groups (P＞ 0.05). The incidence of aspiration pneumonia in intervention group was lower than that in control group (P＜ 0.05). Conclusions? Using GUSS scale to guide swallowing training for patients after laryngeal function preservation operation can effectively promote the recovery of swallowing function, shorten the indwelling time of nasogastric feeding tube, reduce the incidence of aspiration pneumonia,and improve patients' confidence in recovery.

Objective To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle(ventriculomegaly), and follow up the nervous system development status after birth. Methods Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done:(1) unilateral or bilateral lateral ventricle expasion:one group was 98 cases was lateral ventricle expansion (77.8%, 98/126), expansion of bilateral ventricle group was 28 cases (22.2%, 28/126). (2) Prenatal MRI in the diagnosis of the lateral ventricle of expansion: expansion of the lateral ventricle width was greater than 10.0 mm, if both sides were expanding, the expand width was the heavier one side, divided into 3 subgroups: ①Expansion in group A (lateral ventricle width 10.0-12.0 mm) were 88 cases (69.8%, 88/126).②Expansion in group B (lateral ventricle width 12.1-15.0 mm) were 29 cases (23.0%, 29/126). ③Expansion of group C (lateral ventricle width> 15.0 mm) were 9 cases (7.12%, 9/126). All 176 cases were followed up after birth at the 3rd, 6th, 12th, 18th month (corrected age was used for premature babies), and Gesell developmental schedules (GDS) were used to evaluate the neurobehavioral development. Results (1) The MRI results after birth:21 cases were followed up by MRI after birth. In group A, 11 cases had MRI and 9 were normal (the ventricular width<10.0 mm after birth) , the other 2 cases were stable (the ventricular width measured first time after birth was ≥10.0 mm, but the difference was within 2.0 mm from the MRI before birth). In group B, 4 cases had MRI, 1 was normal, 1 was stable, and 2 cases were getting better (the ventricular width measured first time after birth was ≥10.0 mm, but the width decreased more than 2.0 mm from the MRI before birth). In group C, 6 cases had MRI. 3 cases were getting better and 3 cases were stable. (2) Overall GDS results:expansion group after the birth of the 3rd, 6th, 12th, 18th month GDS evaluation results compared with control group, respectively, the differences were not statistically significant (all P>0.05). (3) The GDS results among the subgroups:in each evaluation after birth, there were no statistically significant differences between group A and the control group (all P>0.05). The GDS results of group B at the 3rd and 6th month were lower than those of the control group (P<0.05); while there were no statistically significant differences between the 2 goups at the 12th and 18th month (P>0.05). And for group C, statistically significant differences were found compared to the control group at each follow-up time (all P<0.05). (4) GDS results at different times after birth in the expansion group:there was no statistically significant difference between the results at the 3rd and 6th month (P>0.05). But when the result at the 3rd month was compared to the results of the 12th or 18th month, the differences were statistically significant (P<0.05). GDS result of 6th months after birth compared with 12th and 18th months, respectively, there were no statistically significant differences (P>0.05). There was no statistically significant difference between the results at the 12th and 18th month (P>0.05). (5) The GDS results in unilateral and bilateral ventricle expansion:at the 18th month, among the 98 unilateral cases, 86 (87.8%, 86/98) had normal GDS results(>85 scores);8 (8.2%, 8/98) had borderline results (75-85 scores);4 (4.1%, 4/98) had delayed results (<75 scores). Among the 28 bilateral cases, 23 (82.1%, 23/28) had normal GDS results;3 (10.7%, 3/28) had borderline results; 2 (7.1%, 2/28) had delayed results. There was no statistically significant difference (P>0.05). Conclusions Among the simple expansion of lateral ventricle, those whose ventricular width are≤12.0 mm may not need clinical treatment. If the width is between 12.1 to 15.0 mm, closely follow-up and targeted rehabilitation training after birth are recommended. When the width is more than 15.0 mm, the risk of the central nervous system function delay is significantly increased, and early intervention might improve the prognosis.

Objective To investigate the clinical value of prenatal MRI in the diagnosis and differential diagnosis of congenital bronchopulmonary sequestration (BPS). Methods From January 2009 to December 2014, 16 fetuses with BPS were diagnosed by fetal MRI in Huzhou Maternity and Child Care Hospital and Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine. The clinical data of these cases were analyzed retrospectively. All were singleton pregnancy, and MRI was carried out within 24-48 hours after routine prenatal ultrasound. All the neonates underwent postnatal enhanced CT scan or surgical biopsy after birth, and the results were compared to prenatal MRI diagnosis. Results (1)With prenatal MRI, 16 cases were diagnosed BPS. The lesions located in left lung in 10 cases, and right lung in 6 cases. As the scope of the lesion, 3 cases located in the whole left lung, 6 cases limited to the left lower lobe, and 1 case was subdiaphragmatic on the left side. 2 cases located in the whole right lung and 4 cases limited to the right lower lobe. One case complicated oligoamnios, and one had pleural effusion. Supplying vessels could be found in 14 cases.(2)When the postnatal results were compared with prenatal MRI, 15 cases were comfirmed as BPS (15/16), including 10 intralobar cases 5 extralobar cases. One that was diagnosed as BPS by prenatal MRI was confirmed to be congenital cystic adenomatoid malformation (CCAM) by pathology. The accuracy of prenatal MRI diagnosis of BPS was 15/16. Prenatal ultrasound missed one case and misdiagnosed two cases, as one was mistakened as CCAM and the other as cystic teratoma. Conclusion Prenatal MRI has good clinical value in the diagnosis and differential diagnosis of fetal BPS.

Objective To investigate the effects of the intervention,rehabilitation and speech development of children with severe hearing loss in some rural areas.Methods 61 children,including 35 males and 26 females,were diagnosed as severe hearing loss with ABR and 40 Hz-AERP from June 2004 to July 2008.All the children failed hearing screening or visited the hospital as outpatients.The ages ranged from 2 to 72 months with the average age of 17.59 months.During telephone follow-up,the questionnaire was used to gather the data regarding the usage of hearing aids,hearing and speech rehabilitation,speech development,and communication abilities.Results 33 (54.10%) children were fitted with hearing aids,and 2 (3.28%) received cochlear implants,while 26(42.62 %) neither had hearing aids nor cochlear implants.10 cases with hearing aids also had speech training,whereas 23 children with hearing aids did not receive the training.2 cases with cochlear implants and 2 cases with hearing aids were found to have good speech development and communication ability,while 31 cases with hearing aids had delayed speech development.26 cases without any devices had to rely on sign language for their commumication.Conclusion Children in rural area with severe hearing loss experience greater speech and communication difficulties because many of them have no access to intervention and speech training.The results suggest that it would be very important to increase public awareness and educate parents to have their children wear hearing aids and receive speech training.

Objective:To investigate the feasibility of universal newborn hearing screening in countryside in order to provide reliable evidence in launching this program all over the countryside of China. Method:Subjects were 12 638 infants who were born in 9 counties from Jan 2004 to Dec 2005. TEOAE was used for the fast hearing screening. Infants were screened on the 2-7 days after the birth. The re-screening was conducted in 4-6 weeks if failed in the initial screening,and follow-up were provided continually if they also failed in the re-screening. Result; Ten thouand eight hundred and forty-five of 12 638(85. 8%) were screened including 9 963(91. 9%) normal newborns and 882(8. 1%) newborns with high-risk. Seven thouand four hundred and fifty (68. 7%) newborns passed the initial screening, and 3 395 (31. 3%) people failed. One thouand seven hundred and ninty-three (14. 2%) infants were refused to be screened.Only 2 536 (74. 7%) were re-screened on time, and 859(25. 3%) did not receive re-screening. One hundred and twenty were failed in the re-screening or first screening, and 79 (65. 8%)of them received diagnostic assessment. Among the infants received diagnostic assessment, 6(7.6%)ca-ses were found to have profound hearing loss in both ears, 9(11. 4%)cases were found to be severe hearing loss(7 in both ears and 2 in single ear) , 11(13. 9%)cases were found to be moderate hearing loss (5 in both ear and 6 in single ear), 26 (32. 9%) were found to have slight hearing loss (11 in both ear and 15 in single ears), and 27 (34.2%) were normal. Fifty-two infants were diagnosed as hearing loss with a prevalence of congenital hearing loss(in binaural and monaural) of 0. 5%(52/10845)and a prevalence of bilateral hearing loss of 0. 3%(29/10845). A prevalence of congenital hearing loss was 0. 2% (22/9 963) in well infants and 3. 4% (30/882) in high risk infants. Among the 13 cases of children with severe and profound hearing loss in both ears children, 8(61. 5%)cases were fitted with hearing aids and 1 (7. 7%) case was implanted with cochlear implants. Conclusion:It is necessary and feasible to conduct hearing screening program in the rural area. However, the suitable model to perform the program in the countryside needs to be set up as soon as possible in order to get more poor infants to participate into the hearing screening program for free and increase the screening rate.