Objective: To analyze the clinical and molecular diagnostic status of Fanconi anemia (FA) in China. Methods: The General situation, clinical manifestations and chromosome breakage test and genetic test results of 107 pediatric FA cases registered in the Chinese Blood and Marrow Transplantation Registry Group (CBMTRG) and the Chinese Children Blood and Marrow Transplantation Registry Group (CCBMTRG) from August 2009 to January 2022 were analyzed retrospectively. Children with FANCA gene variants were divided into mild and severe groups based on the type of variant, and Wilcoxon-test was used to compare the phenotypic differences between groups. Results: Of the 176 registered FA patients, 69 (39.2%) cases were excluded due to lack of definitive genetic diagnosis results, and the remaining 107 children from 15 hospitals were included in the study, including 70 males and 37 females. The age at transplantation treatment were 6 (4, 9) years. The enrolled children were involved in 10 pathogenic genes, including 89 cases of FANCA gene, 7 cases of FANCG gene, 3 cases of FANCB gene, 2 cases of FANCE gene and 1 case each of FANCC, FANCD1, FANCD2, FANCF, FANCJ, and FANCN gene. Compound heterozygous or homozygous of loss-of-function variants account for 69.2% (72/104). Loss-of-function variants account for 79.2% (141/178) in FANCA gene variants, and 20.8% (37/178) were large exon deletions. Fifty-five children (51.4%) had chromosome breakage test records, with a positive rate of 81.8% (45/55). There were 172 congenital malformations in 80 children.Café-au-Lait spots (16.3%, 28/172), thumb deformities (16.3%,28/172), polydactyly (13.9%, 24/172), and short stature (12.2%, 21/172) were the most common congenital malformations in Chinese children with FA. No significant difference was found in the number of congenital malformations between children with severe (50 cases) and mild FANCA variants (26 cases) (Z=-1.33, P=0.185). Conclusions: FANCA gene is the main pathogenic gene in children with FA, where the detection of its exon deletion should be strengthened clinically. There were no phenotypic differences among children with different types of FANCA variants. Chromosome break test is helpful to determine the pathogenicity of variants, but its accuracy needs to be improved.
Male ; Female ; Humans ; Child ; Fanconi Anemia/genetics* ; Chromosome Breakage ; Retrospective Studies ; Exons ; China/epidemiology*

Delayed endolymphatic hydrops （DEH） is a rare disease that causes vertigo and is often misdiagnosed as other vertigo diseases. This article reports on a patient with vertigo who was easily misdiagnosed. The patient was a middle ear cholesteatoma complicated by labyrinthine fistula （LF）; however, his vertigo was episodic vertigo, which could not be explained solely by LF causing labyrinthitis. The possibility of endolymphatic hydrops was suspected, which was confirmed by inner ear magnetic resonance gadolinium imaging. This is the first reported case of middle ear cholesteatoma complicated by LF and DEH. The patient underwent surgical resection of the cholesteatoma and three semicircular canal obstructions at the same time. During two years postoperative follow-up, the patient did not experience a recurrence of vertigo. When diagnosing vertigo diseases, a careful history of vertigo is of utmost importance.
Humans ; Endolymphatic Hydrops/diagnosis* ; Cholesteatoma, Middle Ear/complications* ; Vertigo/complications* ; Labyrinth Diseases/complications* ; Magnetic Resonance Imaging/adverse effects* ; Semicircular Canals

A 27-year-old female patient suffering endolymphatic sac tumor with intralabyrinthine hemorrhage was reported. The patient had hearing loss in the left ear with continuous tinnitus, and MRI showed the soft tissue shadow of endolymphatic sac. Considering that the tumor involved semicircular canal and vestibule,endolymphatic cyst tumor resection was performed by labyrinth route. After surgery, there was no cerebrospinal fluid leakage and facial nerve function was normal. More importantly, enhanced MRI of temporal bone showed no tumor recurrence 1 year after surgery.
Female ; Humans ; Adult ; Endolymphatic Sac/surgery* ; Neoplasm Recurrence, Local/pathology* ; Labyrinth Diseases ; Tinnitus ; Ear Neoplasms/pathology* ; Bone Neoplasms ; Hemorrhage

Objective:To investigate the epidemiological characteristics, diagnosis, treat-ment and prognosis of gallbladder cancer in China from 2010 to 2017.Methods:The single disease retrospective registration cohort study was conducted. Based on the concept of the real world study, the clinicopathological data, from multicenter retrospective clinical data database of gallbladder cancer of Chinese Research Group of Gallbladder Cancer (CRGGC), of 6 159 patients with gallbladder cancer who were admitted to 42 hospitals from January 2010 to December 2017 were collected. Observation indicators: (1) case resources; (2) age and sex distribution; (3) diagnosis; (4) surgical treatment and prognosis; (5) multimodality therapy and prognosis. The follow-up data of the 42 hospitals were collected and analyzed by the CRGGC. The main outcome indicator was the overall survival time from date of operation for surgical patients or date of diagnosis for non-surgical patients to the end of outcome event or the last follow-up. Measurement data with normal distribu-tion were represented as Mean±SD, and comparison between groups was conducted using the t test. Measurement data with skewed distribution were represented as M( Q1, Q3) or M(range), and com-parison between groups was conducted using the U test. Count data were described as absolute numbers or percentages, and comparison between groups was conducted using the chi-square test. Univariate analysis was performed using the Logistic forced regression model, and variables with P<0.1 in the univariate analysis were included for multivariate analysis. Multivariate analysis was performed using the Logistic stepwise regression model. The life table method was used to calculate survival rates and the Kaplan-Meier method was used to draw survival curves. Log-rank test was used for survival analysis. Results:(1) Case resources: of the 42 hospitals, there were 35 class A of tertiary hospitals and 7 class B of tertiary hospitals, 16 hospitals with high admission of gallbladder cancer and 26 hospitals with low admission of gallbladder cancer, respectively. Geographical distribution of the 42 hospitals: there were 9 hospitals in central China, 5 hospitals in northeast China, 22 hospitals in eastern China and 6 hospitals in western China. Geographical distribution of the 6 159 patients: there were 2 154 cases(34.973%) from central China, 705 cases(11.447%) from northeast China, 1 969 cases(31.969%) from eastern China and 1 331 cases(21.611%) from western China. The total average number of cases undergoing diagnosis and treatment in hospitals of the 6 159 patients was 18.3±4.5 per year, in which the average number of cases undergoing diagnosis and treatment in hospitals of 4 974 patients(80.760%) from hospitals with high admission of gallbladder cancer was 38.8±8.9 per year and the average number of cases undergoing diagnosis and treatment in hospitals of 1 185 patients(19.240%) from hospitals with low admission of gallbladder cancer was 5.7±1.9 per year. (2) Age and sex distribution: the age of 6 159 patients diagnosed as gallbladder cancer was 64(56,71) years, in which the age of 2 247 male patients(36.483%) diagnosed as gallbladder cancer was 64(58,71)years and the age of 3 912 female patients(63.517%) diagnosed as gallbladder cancer was 63(55,71)years. The sex ratio of female to male was 1.74:1. Of 6 159 patients, 3 886 cases(63.095%) were diagnosed as gallbladder cancer at 56 to 75 years old. There was a significant difference on age at diagnosis between male and female patients ( Z=-3.99, P<0.001). (3) Diagnosis: of 6 159 patients, 2 503 cases(40.640%) were initially diagnosed as gallbladder cancer and 3 656 cases(59.360%) were initially diagnosed as non-gallbladder cancer. There were 2 110 patients(34.259%) not undergoing surgical treatment, of which 200 cases(9.479%) were initially diagnosed as gallbladder cancer and 1 910 cases(90.521%) were initially diagnosed as non-gallbladder cancer. There were 4 049 patients(65.741%) undergoing surgical treatment, of which 2 303 cases(56.878%) were initially diagnosed as gallbladder cancer and 1 746 cases(43.122%) were initial diagnosed as non-gallbladder cancer. Of the 1 746 patients who were initially diagnosed as non-gallbladder cancer, there were 774 cases(19.116%) diagnosed as gallbladder cancer during operation and 972 cases(24.006%) diagnosed as gallbladder cancer after operation. Of 6 159 patients, there were 2 521 cases(40.932%), 2 335 cases(37.912%) and 1 114 cases(18.087%) undergoing ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) examination before initial diagnosis, respec-tively, and there were 3 259 cases(52.914%), 3 172 cases(51.502%) and 4 016 cases(65.205%) undergoing serum carcinoembryonic antigen, CA19-9 or CA125 examination before initially diagnosis, respectively. One patient may underwent multiple examinations. Results of univariate analysis showed that geographical distribution of hospitals (eastern China or western China), age ≥72 years, gallbladder cancer annual admission of hospitals, whether undergoing ultrasound, CT, MRI, serum carcinoembryonic antigen, CA19-9 or CA125 examination before initially diagnosis were related factors influencing initial diagnosis of gallbladder cancer patients ( odds ratio=1.45, 1.98, 0.69, 0.68, 2.43, 0.41, 1.63, 0.41, 0.39, 0.42, 95% confidence interval as 1.21-1.74, 1.64-2.40, 0.59-0.80, 0.60-0.78, 2.19-2.70, 0.37-0.45, 1.43-1.86, 0.37-0.45, 0.35-0.43, 0.38-0.47, P<0.05). Results of multivariate analysis showed that geographical distribution of hospitals (eastern China or western China), sex, age ≥72 years, gallbladder cancer annual admission of hospitals and cases undergoing ultrasound, CT, serum CA19-9 examination before initially diagnosis were indepen-dent influencing factors influencing initial diagnosis of gallbladder cancer patients ( odds ratio=1.36, 1.42, 0.89, 0.67, 1.85, 1.56, 1.57, 0.39, 95% confidence interval as 1.13-1.64, 1.16-1.73, 0.79-0.99, 0.57-0.78, 1.60-2.14, 1.38-1.77, 1.38-1.79, 0.35-0.43, P<0.05). (4) Surgical treatment and prognosis. Of the 4 049 patients undergoing surgical treatment, there were 2 447 cases(60.435%) with complete pathological staging data and follow-up data. Cases with pathological staging as stage 0, stage Ⅰ, stage Ⅱ, stage Ⅲa, stage Ⅲb, stage Ⅳa and stage Ⅳb were 85(3.474%), 201(8.214%), 71(2.902%), 890(36.371%), 382(15.611%), 33(1.348%) and 785(32.080%), respectively. The median follow-up time and median postoperative overall survival time of the 2 447 cases were 55.75 months (95% confidence interval as 52.78-58.35) and 23.46 months (95% confidence interval as 21.23-25.71), respectively. There was a significant difference in the overall survival between cases with pathological staging as stage 0, stage Ⅰ, stage Ⅱ, stage Ⅲa, stage Ⅲb, stage Ⅳa and stage Ⅳb ( χ2=512.47, P<0.001). Of the 4 049 patients undergoing surgical treatment, there were 2 988 cases(73.796%) with resectable tumor, 177 cases(4.371%) with unresectable tumor and 884 cases(21.833%) with tumor unassessable for resectabi-lity. Of the 2 988 cases with resectable tumor, there were 2 036 cases(68.139%) undergoing radical resection, 504 cases(16.867%) undergoing non-radical resection and 448 cases(14.994%) with operation unassessable for curative effect. Of the 2 447 cases with complete pathological staging data and follow-up data who underwent surgical treatment, there were 53 cases(2.166%) with unresectable tumor, 300 cases(12.260%) with resectable tumor and receiving non-radical resection, 1 441 cases(58.888%) with resectable tumor and receiving radical resection, 653 cases(26.686%) with resectable tumor and receiving operation unassessable for curative effect. There were 733 cases not undergoing surgical treatment with complete pathological staging data and follow-up data. There was a significant difference in the overall survival between cases not undergoing surgical treatment, cases undergoing surgical treatment for unresectable tumor, cases undergoing non-radical resection for resectable tumor and cases undergoing radical resection for resectable tumor ( χ2=121.04, P<0.001). (5) Multimodality therapy and prognosis: of 6 159 patients, there were 541 cases(8.784%) under-going postoperative adjuvant chemotherapy and advanced chemotherapy, 76 cases(1.234%) under-going radiotherapy. There were 1 170 advanced gallbladder cancer (pathological staging ≥stage Ⅲa) patients undergoing radical resection, including 126 cases(10.769%) with post-operative adjuvant chemotherapy and 1 044 cases(89.231%) without postoperative adjuvant chemo-therapy. There was no significant difference in the overall survival between cases with post-operative adjuvant chemotherapy and cases without postoperative adjuvant chemotherapy ( χ2=0.23, P=0.629). There were 658 patients with pathological staging as stage Ⅲa who underwent radical resection, including 66 cases(10.030%) with postoperative adjuvant chemotherapy and 592 cases(89.970%) without postoperative adjuvant chemotherapy. There was no significant difference in the overall survival between cases with postoperative adjuvant chemotherapy and cases without postoperative adjuvant chemotherapy ( χ2=0.05, P=0.817). There were 512 patients with pathological staging ≥stage Ⅲb who underwent radical resection, including 60 cases(11.719%) with postoperative adjuvant chemotherapy and 452 cases(88.281%) without postoperative adjuvant chemotherapy. There was no significant difference in the overall survival between cases with postoperative adjuvant chemo-therapy and cases without post-operative adjuvant chemo-therapy ( χ2=1.50, P=0.220). Conclusions:There are more women than men with gallbladder cancer in China and more than half of patients are diagnosed at the age of 56 to 75 years. Cases undergoing ultrasound, CT, serum CA19-9 examination before initial diagnosis are independent influencing factors influencing initial diagnosis of gallbladder cancer patients. Preoperative resectability evaluation can improve the therapy strategy and patient prognosis. Adjuvant chemotherapy for gallbladder cancer is not standardized and in low proportion in China.

Ear, Inner ; Humans ; Labyrinth Diseases

Objective The objective of this study is to investigate the clinical manifestations of the superior semicircular canal dehiscence syndrome (SSCDS) and the treatment strategies.Methods Data from 20 cases diagnosed with SSCDS from September 2004 to December 2014 were retrospectively analyzed in this study.The clinical presentations including symptoms,signs,audiological and vestibular function examination,and their imaging characteristics and treatment strategies were reviewed.Results All of the patients demonstrated variable degree of vertigo.Four patients could not tolerate the environmental noise.Autophony was noted in nine cases,among whom,two patients could feel their eye movements and heart beat,one patient could feel his footstep,one patient couldn't endure the singing by himself.Slow component vertical tortional eye movement away from the effected eye were observed in twelve patients when loud noise was given or middle ear or intracranial pressure increased.Head movement was induced by loud noise in one case.Ten patients presented with low frequency hearing loss.One case was concomitance with chronic otitis media and demonstrated severe sensorineural hearing loss.Nine patients demonstrated normal hearing.Decreased thresholds were showed by VEMP examination in six cases.Variable bone defect overlying in the SSCDS was confirmed by CT scans in all of the cases.The surgical repair of the superior semicircular canal dehiscence was performed through the middle cranial fossa approach in three cases and mastoid approach in two cases.The dizziness and the autophony were significantly alleviated after surgery.Conclusions The clinical manifestations of SSCDS mainly demonstrate dizziness,autophony and loss of low frequency hearing.Treatment strategies are mainly composed of avoidance of environmental noise and shouting voice of the patients themselves.Surgical repair of the superior semicircular canal dehiscence was proposed to conduct,either through the middle cranial fossa approach or mastoid approach,when the patient couldnt tolerate the sypmtoms.

Objective To identify the targets of the infrared laser stimulating on the cochlea of guinea pig which evoked auditory brainstem response (oABR),and explore the mechanisms of the infrared neurostimulation.Methods A polished optical fiber with 200 μm diameter (NA =0.22) was planted into the scala tympani of guinea pigs to stimulate the cochlea of both the normal hearing and acute deafened guinea pigs.The direction of the fiber distal was changed to radiate different regions of the scala tympani,recording the oABR respectively.Differences of energy thresholds and amplitudes of oABR between normal hearing and acute deafened animals was concerned,and different responses were recorded as the optical path of laser fiber being changed to investigate the targets of the infrared laser stimulation.Immunofluorescence was used to detect the changes of inner and outer hair cells,and spiral ganglion neurons 7 days postdeafening,to looking for the probable association with the oABR changes at the same stimulus.SPSS 18.0 software was used to analyze the data.Results Inner and outer hair cells were damaged in basal and middle turn,butresidual hair cells were observed in apical turn.Only when the optical fiber pointed to Rosenthal's canal stimulated the spiral ganglion region directly could the oABR be evoked.No response was recorded while the fiber pointed to other directions.Conclusion Infrared laser stimulates cochlea evoked oABR generats from the response of spiral ganglion directly,the spiral ganglion neurons are the target of infrared stimulation.

Objective To evaluate the auditory and verbal abilities of cochlear implantees using question_naires ,to explore basic rules of the development of auditory and verbal abilities ,and to analyze their relationships with some influencing factors .Methods A retrospective analysis of 107 cases of pre-lingually deaf children with cochlear implantation was conducted with Infant-Toddler Meaningful Auditory Integration Scale/Meaningful Audi_tory Integration Scale (IT -MAIS/MAIS) ,categories of auditory performance (CAP) and speech intelligibility rat_ing (SIR) for the evaluation of auditory and verbal abilities .An analysis was performed to assess influencing fac_tors ,such as postoperative time ,age at implantation ,physical age at follow -up ,time with hearing aids before im_plantation .SAS 9 .1 .3 was used in statistical analysis .ResuIts A total of 107 pre-lingually deaf children (48 males and 59 females) participated in this study .The postoperative time ranged from 0 to 49 months ,with an average of 9 .0 ± 10 .9 months .The results showed the postoperative time and age at implantation had significant influences on the scores of IT -MAIS/MAIS ,and postoperative time and physical age at follow -up had significant influences on the scores of CAP/SIR (P<0 .05) ,and hearing aids (HA) usage before implantation had no significant influences on these three questionnaires (P>0 .05) .ConcIusion The ages at implantation ,postoperative time and physical age had significant influences on the auditory and verbal abilities of pre-lingually deaf children with cochlear implanta_tion .Further studies are needed to explore their relationships with hearing aids usage before implantation .

Objective To investigate the pathological mechanism of delayed endolymphatic hydrops(DEH) , and clarify the clinical value of endolymphatic space imaging after intratympanic injection of gadolinium in the diag_nosis of delayed endolymphatic hydrops .Methods Twenty -four hours after bilateral intratympanic injection of gadolinium ,the locations and severity of endolymphatic hydrops of all patients were evaluated by using three dimen_sional fluid-attenuated inversion recovery (3D -FLAIR) and three dimensional real inversionrecovery (3D -real IR) .ResuIts All patients had unilateral or bilateral endolymphatic hydrops .Among 9 ipsilateral DEH patients , only 1 (11 .1% ) patient was identified as mild endolymphatic hydrops and the rest (88 .9% ) examined had signifi_cant endolymphatic hydrops in vestibule of their affected ears ;Endolymphatic hydrops appeared in cochlea of the af_fected ear in 8 (88 .9% ) patients ,except for 1 patient .Endolymphatic hydrops were not observed in the contralater_al ears of 9 ipsilateral DEH patients .Mild endolymphatic hydrops in bilateral vestibule ,severe in right cochlear and none in left cochlea of contralateral DEH patient were identified .ConcIusion Endolymphatic hydrops is the primary pathological factors of DEH .Endolymphatic space imaging after intratympanic injection of gadolinium can intuitively reflect the locations and severity of endolymphatic hydrops in DEH patients .

OBJECTIVE: 10 summarize tne clinical features of the facial nerve tumors involving the internal auditory canal and promote the management of facial nerve tumor. METHOD: We retrospectively reviewed the clinical manifestations, the experiences of diagnosis and treatment of the facial nerve tumor involving the internal auditory canal. All these 5 cases were enrolled during January 2013 to Apr 2015. RESULT: Among the 5 cases, 3 cases were facial neurilemmoma and the others were facial neurofibroma. The main symptoms of facial nerve tumors involving the internal auditory canal most commonly were facial paralysis companied with hearing loss. All the patients accepted the surgical treatment with various approaches, 3 cases of translabyrinthine approach, 1 case of middle fossa approach, and 1 case of combination of translabyrinthine and transotic approach. Total tumor resection were achieved in all 5 cases. Facial-hypoglossal nerve anastomosis was performed in one case, another case was undergone great auricular nerve graft. CONCLUSION Surgical intervention for patients with facial neuroma involving internal auditory canal should be considered when facial weakness has deteriorated to grade 4. The management should be based on the patient's hearing, facial nerve function, tumor size and invasive extension to select the appropriate surgical procedures.
Anastomosis, Surgical ; Cranial Nerve Neoplasms ; diagnosis ; surgery ; Facial Nerve ; pathology ; surgery ; Facial Nerve Diseases ; diagnosis ; surgery ; Facial Paralysis ; complications ; Hearing Loss ; complications ; Humans ; Hypoglossal Nerve ; surgery ; Neurilemmoma ; diagnosis ; Neurofibroma ; diagnosis ; Retrospective Studies