UTILITY OF VIBRANT SOUNDBRIDGE IN PATIENTS WITH CONGENITAL MIDDLE AND OUTER EAR DEFORMITIES

Objective To report use of the Vibrant Soundbridge (VSB) in patients with congenital deformation of the middle and outer ears and investigate its utility in this patient population.Method Four patients with congenital deformation of middle and outer ears underwent VSB implantation. All were male (aged 3-18 years,average 13.5 years) and operated on the left side.Malformation was bilateral in 3 patients and unilateral in 1 patient. Surgical techniques were modified to accommodate each patient’s unique conditions and needs.The implant site was approached via the facial recess in 3 patients and through a retro-facial nerve route in 1 patient. The VSB implant was connected to either the stapes (2 cases) or the round window (2 cases).Pure tone and speech audiometry results and daily communication capabilities before and after VSB activation were compared.Results The operations were successful in all patients, with no complications. The patient communication level improved significantly after VSB activation. Average air conduction pure tone threshold or conditioned reflex audiometry threshold improved by 35 dB in the 0.25-4 kHz range,from 69 dB HL before VSB activation to 34 dB HL after.The sentence recognition rate in quiet at 65 dB SPL went up to 86% from 0% without VSB for patients with bilateral deformation and remained at 100% for the patient with unilateral deformity. However, for the latter patient, the rate improved to 20% from 0% without VSB in noise (-8 dB SNR).Conclusion VSB is an excellent solution for improving hearing in patients with congenital deformation of middle and outer ears.Operation can be completed and good results can be achieved even in patients with unique conditions and needs.

Challenging management of congenital bilateral radial club hand: A case report

Congenital radial club hand (CRCH) is a terminal deficiency characterized by the radial deviation of the hand, marked shortening of the forearm, and generalized underdevelopment of the extremity with an incidence rate of 1 per 100,000 live births. Both sexes are nearly or equally affected. Challenges that the disease poses to the patient are multifaceted, ranging from medical, social, cosmetic and functional issues which also are the multidimensional treatment modalities. We report a case of a 2-month-old baby with the severe case of bilateral CRCH. The patient had the centralization of the left ulna with Kwire stabilization. About 160d of correction was achieved. He did well and was discharged after two weeks at the orthopedic clinic for follow-up. Congenital radial club hand though uncommon may be amenable to surgery. Centralization is still the treatment of choice in severe cases and early intervention will offer a better outcome.

Type Ⅰ congenital extrahepatic portosystemic shunt treated by orthotopic liver transplantation: A case report

BACKGROUND Congenital extrahepatic portosystemic shunt, also known as Abernethy deformation, is a rare malformation caused by dysplasia in the portal vein system. There are few reports of liver transplantation as a treatment for Abernethy deformation, and our report is the first case in China. This is the second reported case with congenital extrahepatic portosystemic shunt combined with focal nodular hyperplasia and hepatopulmonary treated with liver transplantation.CASE SUMMARY The patient was a 14-year-old girl, diagnosed preoperatively as type Ib Abernethy deformation, intrahepatic multiple space-occupying lesion, and hepatopulmonary syndrome. The patient recovered well after undergoing classic orthotopic liver transplantation. Liver function, pulmonary function, and portal vein computed tomography angiography imaging were reexamined 20 mo postoperatively, and no abnormality was observed.CONCLUSION Liver transplantation is an effective treatment for type I Abernethy deformation combined with focal nodular hyperplasia and hepatopulmonary syndrome.

Classification of congenital thumb hypoplasia and deformity

Background:Congenital thumb deformities account for one-third or more of all cases of congenital hand deformity.However,the current classification schemes of congenital thumb hypoplasia are no longer adequate due to their lack of adaptability to increasing knowledge in the field.Hence,a modified system with the potential to adapt to ongoing advances in knowledge and understanding is desperately needed.Methods:Based on the photographs collected from thousands of cases of congenital deformities of the hand and upper limb over multiple decades in our department,we subdivided thumb hypoplasia according to the variables of morphological characteristics,anatomical structures,functional status,the relationship between thumb deformity and hand deformity,the relationship between congenital hand deformity syndrome and thumb hypoplasia,and the selection of treatment methods.Results:A total of 10 types were presented,which were elucidated with nomenclatures as well as pathological feature and symptoms.Conclusion:This modified system may shed additional light on the classification of congenital thumb anomalies,which will assist in a more effective selection of treatment modalities and offers significant benefits to both patients and practice.

How should congenital absence of cruciate ligaments be treated? A case report and literature review

BACKGROUND Hypoplasia of bilateral cruciate ligaments is a rare congenital malformation.The diagnosis of such diseases and indications for the various treatment options require further analysis and discussion.CASE SUMMARY The patient is a 26-year-old Chinese woman who has been suffering from knee pain since the age of 8 years,2-3 episodes a year.Three years ago,due to the practice of advanced yoga poses,the frequency of left knee pain increased,requiring prompt medical treatment.Magnetic resonance imaging demonstrated an absence of both anterior and posterior cruciate ligaments of both knees with abnormal posterior tilting of the tibial plateau.Bilateral subluxation of the knee joint was also found,therefore tibial osteotomy was performed.The patient reported at the 24 mo follow-up that the frequency of pain and instability had been reduced and function restored.CONCLUSION Osteotomy may be an effective method to treat patients with congenital cruciate ligament deficiency with posterior tibial plateau tilting.The diagnosis of congenital cruciate ligament deficiency shall be based on the combination of patient’s medical history,clinical manifestations,and findings from imaging to avoid possible misdiagnosis.Based on the symptoms,frequency of attacks,and intent of the individual,appropriate treatment options shall be identified.

Congenital absence of the splenic artery and splenic vein accompanied with a duodenal ulcer and deformity

Congenital absence of the splenic artery is a very rare condition.To the best of our knowledge, congenital absence of the splenic artery accompanied with absence of the splenic vein has not been reported.We report a case of the absence of the splenic artery and vein in a 61-year-old woman who presented with postprandial epigastric discomfort. Upper gastrointestinal endoscopy showed a dilated, pulsatile vessel in the fundus and duodenal stenosis. An abdominal computed tomography(CT)scan revealed absence of the splenic vein with a tortuously engorged gastroepiploic vein.Three-dimensional CT demonstrated the tortuously dilated left gastric artery and the left gastroepiploic artery with non-visualization of the splenic artery.After administration of a proton pump inhibitor,abdominal symptoms resolved without any recurrence of symptoms during 6 mo of follow-up.

Transcription factor HAND2 mutations in sporadic Chinese patients with congenital heart disease

Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in cardiac morphogenesis. However, the prevalence of HAND2 mutations in congenial heart disease （CHD） and the correlation between the HAND2 genotype and CHD phenotype have not been studied extensively. Methods We amplified the exons and the flanking intron sequences of the HAND2gene in 131 patients diagnosed with congenital defects of the right ventricle, outflow tract, aortic artery or cardiac cushion and confirmed the mutations by sequencing. Results Seven mutations including three missense mutations （P11R, S36N and V83L）, one isonymous mutation （H14H） and three mutations in untranslated region （241A〉G, 604C〉T and 3237T〉A） were identified in 12 out of the 131 patients. Both nonisonymous mutations are located in the transcriptional activation domain on the N-terminus. Only one mutation （S36N） was identified in 250 normal healthy controls. The distribution of 3637T〉A is the unique one which was different between the 2 groups. Conclusions HAND2 may be a potential candidate gene of stenosis of the right ventricle, outflow tract. Further study of those with a family history of HAND2 mutations will help convincingly relate their genotype to the pathogenesis of CHD.

Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation by targeting HAND2

Congenital heart disease(CHD)is the most common birth defect worldwide.Long non-coding RNAs(lncRNAs)have been implicated in many diseases.However,their involvement in CHD is not well understood.This study aimed to investigate the role of dysregulated lncRNAs in CHD.We used Gene Expression Omnibus data mining,bioinformatics analysis,and analysis of clinical tissue samples and observed that the novel lncRNA SAP30-2:1 with unknown function was significantly downregulated in damaged cardiac tissues from patients with CHD.Knockdown of lncRNA SAP30-2:1 inhibited the proliferation of human embryonic kidney and AC16 cells and decreased the expression of heart and neural crest derivatives expressed 2(HAND2).Moreover,lncRNA SAP30-2:1 was associated with HAND2 by RNA immunoprecipitation.Overall,these results suggest that lncRNA SAP30-2:1 may be involved in heart development through affecting cell proliferation via targeting HAND2 and may thus represent a novel therapeutic target for CHD.

Congenital symbrachydactyly： outcomes of surgical treatment in 120 webs

yBackground Symbrachydactyly is defined as a combination of short fingers with syndactyly. There are few published reports estimating the incidence of symbrachydactyly. The aim of this study was to investigate the clinical features and the outcome of surgical treatment for congenital symbrachydactyly. Methods One hundred and twenty webs of thirty-four patients of symbrachydactyly were involved in the study. The sex ratio was 21 males/13 females. The age ranged from 1 year to 8 years, average 2.6 years. Four cases had both hands involved and 30 patients had one hand involvement. Release of the syndactylous digits webs were completed by one surgical procedure in 14 cases and more than one surgical procedure in 20 cases; 3 to 6 months between the procedures. In the meantime, some of the associated hand deformities were treated. Results Postoperative follow-up time was 10 to 18 months, average 12 months. All the fingers involved in this study were separated successfully. However, 6 fingers had scar tissue contracture and 8 had web scar adhesion. All complications needed further surgical treatment. Parents of 94.1% of the patients were satisfied with the overall function of the hand, and 76.5% were satisfied with the cosmetic appearance of hand. Conclusions The combination of syndactyly and brachydactyly is the main clinical feature in symbrachydactyly. Separation of the digital webs can greatly improve the function of the hand. However, more work needs to be done to improve the cosmetic appearance of the hand.

Bilateral congenital absence of anterior cruciate ligaments associated with the scoliosis and hip dysplasia： a case report and review of the literature

Congenital absence of the cruciate ligaments is an extremely rare condition with a prevalence of 0.017 per 1000 live births. Niebauer and King first reported this disease in 1960, and after that, similar cases have been reported. These cases are usually associated with other deformities of the knee joint, such as the joint dislocation, absence of the tibial intercondylar eminence, deformity of the meniscus, dysplasia of the distal femur, etc.3 However, its association with multiple congenital abnormalities in other areas of the body has been rarely reported. Here, we report a patient with congenital deficiency of bilateral anterior cruciate ligaments associated with scoliosis and hip dysplasia, together with the result of four years follow-up along with a literature review.

口颌肌再生纤维化的特异性机制与药物治疗的研究进展

唇腭裂等先天性颌面畸形的患者多伴有口颌肌结构和功能的异常,颌面整复术后,口颌肌通常表现出成肌能力不足和过度纤维化的特点,这极大地限制了患者颌面功能的恢复。口颌肌是具有独特进化及发育特征的骨骼肌亚群,其纤维化的发生与其独特的胚胎发育来源和固有的再生特性有关,其中卫星细胞和成纤维脂肪前体细胞主导的成肌-成纤维失衡是纤维化发生的重要因素。药物治疗或可成为改善口颌肌纤维化的有效途径。本文就口颌肌发育和再生的独特性、肌纤维化发生的细胞学基础,以及美国食品药品监督管理局批准的或正在进行临床试验的对抗骨骼肌纤维化的药物治疗展开综述,为阐明口颌肌再生纤维化的特异性机制和制定更有效的促进口颌肌再生的策略提供思路。

Prevalence and Incidence of Hand Osteoarthritis and Upper Limb Complaints in Patients with Knee Osteoarthritis. Correlations among Functionality, Grip Strength, Changes in Body Mass Index and Symptoms among Patients in an Educational Osteoarthritis Program

Objective: To evaluate the prevalence of hand osteoarthritis (hOA) in a population with knee osteoarthritis (KOA) at baseline and one year following the administration of a multi-professional OA educational program correlating symptoms and changes in BMI with function questionnaires of the upper limbs and direct grip strength measurements. Design: Epidemiological study of the prevalence of hand OA in patients with knee osteoarthritis. The Stanford Health Assessment Questionnaire instruments (HAQ);Disabilities of the Arm, Shoulder and Hand* (DASH);grip strength;and finger pinch were utilized, and the upper limbs symptoms were verified at baseline and one year following the educational program. Results: The prevalence of hOA was 23.7% at baseline and 47.4% at one year (incidence of 31.8% per year). The HAQ indicated that patients who did not alter or increased their BMI experienced worsened global strength, whereas patients who reduced BMI improved global strength (p = 0.041). Patients with higher initial BMIs experienced less improvement in the HAQ (r = -0.148, p = 0.041). The DASH results improved, but the right and left tripod grip worsened in all patients, irrespective of BMI change (p < 0.05) or symptoms at baseline and reassessment (p < 0.05). Pinch strength (right and left tripod and left pulp-pulp) was higher in patients without symptoms at baseline (p = 0.048, p = 0.045 and 0.033, respectively). Conclusions: The prevalence of hand OA increased for patients with OA undergoing an educational program irrespective of improved upper function and regardless of BMI change. Patients who decreased their BMI improved their global strength.

A Rare and Severe Case of Split-Hand/Foot Malformation in a Child in India

Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic;however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.

EarWell耳廓矫形器治疗小儿先天性耳廓畸形的疗效及美学评价

目的:探讨EarWell耳廓矫形器治疗先天性耳廓形态畸形的疗效及美学效果。方法:选取2020年12月-2022年12月笔者医院治疗的100例(120耳)先天性耳廓形态畸形患儿,均采用EarWell耳廓矫形器治疗,最长佩戴8周。比较不同性别、年龄、畸形类型患儿的矫正效果、并发症及美学满意度。结果:整体矫正率为94.17%,并发症总发生率为6.67%,美学总满意度为91.67%;<90 d患儿的矫正率、美学满意度明显高于90~180 d患儿(P<0.05),并发症发生率明显低于90~180 d患儿(P<0.05)。不同性别患儿矫正率、美学满意度比较差异无统计学意义(P>0.05)。不同类型耳廓形态畸形的矫正率、美学满意度比较差异有统计学意义(P<0.05)。结论:EarWell耳廓矫形器治疗先天性耳廓形态畸形的疗效显著,美学效果好,并发症少,年龄越小,矫正及美学效果越好,不同类型耳廓形态畸形的矫正效果存在差异。

耳廓矫形器应用于先天性耳廓形态畸形患儿的疗效观察

目的研究耳廓矫形器在先天性耳廓形态畸形患儿中的应用效果。方法选取50例年龄在3 d~3个月的先天性耳廓形态畸形患儿,根据患儿年龄分为3~42 d组和43 d~3个月组,每组25例。两组患儿均使用耳廓矫形器进行矫治。随访3个月,观察50例患儿的整体矫治情况,比较两组患儿的矫治后耳廓外观疗效、初始矫治时间、不良事件发生情况、患儿家长满意度。结果50例先天性耳廓形态畸形患儿,经过耳廓矫形器矫治后,整体矫治优良率为86%(43/50),初始矫治时间为(27.94±5.99)d,不良事件发生率为20%(10/50),患儿家长总满意率为80%(40/50)。3~42 d组矫治后耳廓外观优良率96.00%显著高于43 d~3个月组的76.00%,初始矫治时间(25.55±5.42)d显著短于43 d~3个月组(30.33±6.95)d,不良事件发生率8.00%显著低于43 d~3个月组的32.00%,患儿家长对矫正后耳廓形态的总满意率92.00%显著高于43 d~3个月组的68.00%(P<0.05)。结论耳廓矫形器应用于先天性耳廓形态畸形患儿的整体疗效显著,安全可靠。患儿接受矫治的年龄越小,矫治疗效越好,矫治时间越短,不良事件越少,家长满意度越高,提示年龄越小,矫治的效果越满意,安全性更高。

手部烧伤后瘢痕挛缩畸形的整形治疗方法及临床预后情况分析

目的 观察对手部烧伤后瘢痕挛缩畸形患者予以整形治疗的效果。方法 选取2021年2月—2023年1月就诊于枣庄市皮肤病性病防治院的70例手部烧伤后瘢痕挛缩畸形患者为研究对象,按随机数表法分为对照组(35例,常规外科手术治疗)和研究组(35例,常规外科+整形治疗),对比两组的治疗效果、并发症、创面愈合时间、生活质量评分。结果 研究组治疗效果(94.29%)明显高于对照组(77.14%),并发症发生率(2.86%)低于对照组(22.86%),差异有统计学意义(χ^(2)=4.200、4.590,P均<0.05);治疗后,研究组创面愈合时间明显短于对照组,日常生活活动能力评分、手部关节功能利用总主动活动度、生活质量评分高于对照组,差异有统计学意义(P均<0.05)。结论 对手部烧伤后瘢痕挛缩畸形患者予以整形治疗效果突出,可减少并发症,提高外观满意度,促进日常生活能力和手部关节功能恢复,利于生活质量改善。

手制动机安装面关键尺寸对装车影响的研究

NSW-I型手制动机为铁路货车车辆主型人力制动配件,主要用于停车防溜和调车作业,通过环槽铆钉连接副锁紧在车辆安装座上。长期存在装车前试验合格,铆接装车后不缓解的惯性质量问题。为提升零部件制造水平,提高装车合格率,本文主要研究手制动机结构特点,分析制动后不缓解的原因,并通过建立铆接装车的仿真模型,通过有限元仿真分析,进一步确定零部件关键尺寸的偏差对装车的影响。分析结果表明,当手制动机安装面尺寸偏差超限时,铆接装车后零部件受力失效变形,导致手制动机无法缓解,产品不合格。保证安装面关键尺寸,即可防止出现装车不缓解。

先天性室间隔缺损相关HAND1基因新突变的识别及功能

目的:检测先天性室间隔缺损(ventricular septal defect,VSD)相关HAND1基因新突变并分析其功能。方法:采集125例先天性VSD患者和210名对照者的临床资料和血标本,抽提基因组DNA,扩增HAND1基因的全部编码外显子,并对扩增的基因片段进行测序以识别HAND1基因突变。利用双荧光报告基因分析系统分析突变型HAND1的功能特点。结果:在1例散发性VSD患者中发现了1个新的HAND1杂合突变c.355G>T,亦即E119X突变,该无义突变在210名对照者中并不存在,功能分析显示突变型HAND1丧失了转录、激活靶基因的功能。结论:本研究检测出了一个VSD相关的HAND1基因新突变。

胎儿分裂手/足畸形产前超声特征:3例报告及文献复习

目的结合文献及3例临床所见,观察胎儿分裂手/足畸形(SHFM)产前超声特征。方法回顾性分析3胎SHFM胎儿,结合文献复习观察其产前超声特征。结果产前超声显示1胎(序号1)右手第3指骨缺失,左手仅3根手指,示指与小指间呈“V”形,环指与小指似为并指,右足自足底前1/3部分裂为两部分,呈“V”形裂隙,第2~4趾及其相应跖骨缺如,左足足掌中上部分裂为两部分,踇趾与第2趾似为并趾,第3与第4趾似为并趾;1胎(序号2)右手掌呈“V”形裂开,双足呈分叉状,部分足趾缺如;1胎(序号3)双侧手掌呈“V”形裂开,双足呈分叉状,部分足趾缺如。因孕妇要求终止妊娠而予以引产,3胎胎儿引产标本所见与产前超声表现一致。结论胎儿SHFM产前超声表现为双手/足呈“V”形裂开,伴指/趾骨及相应掌/跖骨缺如。

先天性耳廓畸形耳模矫正的疗效分析

目的分析先天性耳廓畸形耳模矫正治疗的临床疗效。方法回顾2019年1月-2021年12月在湖南省妇幼保健院耳鼻咽喉科门诊进行耳模矫正的201例(318耳)先天性耳廓畸形患儿,按患儿开始治疗的日龄将其分为3组:109例(181耳)<14 d的患儿为1组,75例(117耳)14~42 d的患儿为2组,17例(20耳)43~89 d的患儿为3组;分析3组患儿的治疗效果、治疗时长、并发症发生率等。结果201例(318耳)先天性耳廓畸形患儿治疗的显效及治愈率为93.4%,佩戴时长平均(32.4±10.8)d,并发症发生率45.9%。3组的治疗显效及治愈率分别为96.7%、90.6%、80.0%,组间差异具有统计学意义(χ^(2)=10.479,P=0.005);3组的矫正时长分别为(30.2±10.4)、(35.2±10.8)、(35.5±9.7)d,组间差异具有统计学意义(F=8.940,P=0.000);3组的并发症发生率分别为37.0%、59.8%和45.0%,差异具有统计学意义(χ^(2)=14.900,P=0.001)。结论先天性耳廓畸形患儿通过耳模矫正可获得良好的治疗效果,14 d内开始治疗有助于提高治疗效率,缩短治疗时长,降低并发症发生率。