Objective To evaluate the surgical treatment for patients with malignant colorectal mesenchymoma, and to analyze the clinical data, pathological features and the common presenting symptoms and its immunohistochemical staining property. Methods The clinical data and the pathological findings, including immunohistochemical staining, of 17 patients with malignant colorectal mesenchymoma admitted from Jan 1990 to Mar 2005 were retrospectively analyeed. All the patients were followed up carefully. Results All the patients underwent operation, and all the tumors were proved malignant pathologically. In 6 cases left hemicolectomy was done, in 3 cases right hemicolectomy was done, in 2 cases the treatment was local resection from the rectum, and 6 patients received Mile's resection. The 1, 3 and 5-year overall survival rates for 17 patients with the total resection of tumor were 100%, 70.6% and 47.1%, respectively. The median survival time for 17 patients was 52 months. The final diagnosis of malignant GIST depended on the pathological examination, but the most worthwhile diagnostic criterion was the presence of CD117 and CD34 cells. Conclusion Since the prognosis is very poor, radical hemicolectomy is the principal treatment, and comprehensive treatment is necessary to improve clinical result.

OBJECTIVE: To review endonasal endoscopic surgeries aided by Fusion image guided system, and to explore the application value of Fusion image guided system in endonasal endoscopic surgeries. METHOD: Retrospective research. Sixty cases of endonasal endoscopic surgeries aided by Fusion image guided system were analysed including chronic rhinosinusitis with polyp (n = 10), fungus sinusitis (n = 5), endoscopic optic nerve decompression (n = 16), inverted papilloma of the paranasal sinus (n = 9), ossifying fibroma of sphenoid bone (n = 1), malignance of the paranasal sinus (n = 9), cerebrospinal fluid leak (n = 5), hemangioma of orbital apex (n = 2) and orbital reconstruction (n = 3). RESULT: Sixty cases of endonasal endoscopic surgeries completed successfully without any complications. Fusion image guided system can help to identify the ostium of paranasal sinus, lamina papyracea and skull base. Fused CT-CTA images, or fused MR-MRA images can help to localize the optic nerve or internal carotid arteiy . Fused CT-MR images can help to detect the range of the tumor. It spent (7.13 ± 1.358) minutes for image guided system to do preoperative preparation and the surgical navigation accuracy reached less than 1mm after proficient. There was no device localization problem because of block or head set loosed. CONCLUSION Fusion image guided system make endonasal endoscopic surgery to be a true microinvasive and exact surgery. It spends less preoperative preparation time, has high surgical navigation accuracy, improves the surgical safety and reduces the surgical complications.
Cerebrospinal Fluid Leak ; surgery ; Endoscopy ; instrumentation ; Fibroma, Ossifying ; surgery ; Humans ; Nasal Surgical Procedures ; methods ; Neurosurgical Procedures ; Nose ; pathology ; Papilloma, Inverted ; surgery ; Paranasal Sinuses ; pathology ; Retrospective Studies ; Sinusitis ; surgery ; Sphenoid Bone ; pathology ; Surgery, Computer-Assisted ; methods

[ABSTRACT]OBJECTIVETo investigate the relationships between the characteristics of the upper airway anatomy, including the basis nasi, and the severity of obstructive sleep apnea hypopnea syndrome(OSAHS). METHODSFifty OSAHS patients and 40 normal subjects received three-dimensional CT scan and poly somnography(PSG). Variables between the two groups were compared. The association between the PSG parameters and the upper airway anatomic features were analyzed. RESULTSThere were significant differences in several CT variables between OSAHS patients and normal subjects(P<0.05), including the minimal lateral airway dimension and the minimal cross-sectional airway area of both velopharynx and glossopharynx, the minimal anterior-posterior airway dimension of velopharynx, and the airway width of basis nasi. The result of logistic regression analysis suggested that the minimal cross-sectional airway area of velopharynx and the airway width of basis nasi were significant predictors of the OSAHS(P<0.05, the values of the odds ratio were 0.978 and 0.589). The correlation analysis suggested that the airway width and the airway area of basis nasi both correlated significantly with several CT variables of pharynx(P<0.05), among these results, the correlation coefficents between these two variables and the mCSA of velopharynx were 0.536 and 0.425 respectively. CONCLUSIONNarrowed basis nasi and velopharynx might be important anatomical features in OSAHS patients. There are correlations between the characteristics of basis nasi and the anatomy of pharyngeal airway.

Objective:To observe the effects of electroacupuncture(EA)on gut microbiota and serum inflammatory factors interleukin(IL)-1β and tumor necrosis factor(TNF)-α in Crohn disease(CD)model rats. Methods:Thirty-six Sprague-Dawley rats were randomly divided into a normal control(NC)group with 10 rats and a modeling group with 26 rats.In the modeling group,the CD rat model was prepared with 2,4,6-trinitrobenzene sulfonic acid(TNBS)enema.After successful modeling,the rats were randomly divided into a CD model(CD)group,an EA group,and a Western medicine(WM)group.The NC and CD groups received no treatment;the EA group was treated with EA for 20 min each time,with 7 consecutive days'intervention;the WM group received mesalazine enteric-coated tablet solution by gavage once a day for 7 d.The changes in body mass and disease activity index(DAI)were observed.Serum IL-1β and TNF-α were determined by enzyme-linked immunosorbent assay.Hematoxylin-eosin staining was used to observe the pathological changes of colon tissues,and 16S rDNA sequencing was used to analyze the structural changes of gut microbiota. Results:Compared with the NC group,the body mass of rats in the CD group decreased(P<0.01),and the DAI score increased(P<0.01);the colon tissue structure was disordered,and many inflammatory cells were present;also,IL-1β and TNF-α increased significantly(P<0.01).As a result,the diversity of gut microbiota decreased,and the abundance of some conditional pathogenic bacteria(such as Prevotella)increased,while the abundance of beneficial bacteria(such as Lactobacillus,Rochella,and Spirillum)decreased.After the intervention,compared with the CD group,the body mass of rats in the EA group and WM group increased(P<0.01);the DAI score decreased(P<0.01),the colon tissue structure improved,and the IL-1β and TNF-α levels decreased(P<0.01);the diversity of gut microbiota increased(P<0.05),and the abundance of some conditional pathogenic bacteria decreased while the abundance of beneficial bacteria increased in the EA group;whereas the diversity of gut microbiota in the WM group was not statistically different(P>0.05). Conclusion:EA can reduce the damage of colon mucosa,regulate the imbalance of gut microbiota,and inhibit the serum inflammatory factor IL-1β and TNF-α expression in CD rats.

Background: and Purpose X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by peripheral neuropathy with or without episodic neurological dysfunction. We performed clinical, neuropathological, and genetic investigations of a series of patients with mutations of the gap-junction beta-1 gene (GJB1) to extend the phenotypic and genetic description of CMTX1. Methods: Detailed clinical evaluations, sural nerve biopsy, and genetic analysis were applied to patients with CMTX1. Results: We collected 27 patients with CMTX1 with GJB1 mutations from 14 unrelated families. The age at onset (AAO) was 20.9±12.2 years (mean±standard deviation; range, 2–45 years). Walking difficulties, weakness in the legs, and pes cavus were common initial symptoms. Compared with female patients, males tended to have a younger AAO (males vs. females=15.4±9.6 vs. 32.0±8.8 years, p=0.002), a longer disease course (16.8±16.1 vs. 5.5±3.8 years, p=0.034), and more-severe electrophysiological results. Besides peripheral neuropathy, six of the patients had special episodic central nervous system (CNS) evidence from symptoms, signs, and/or reversible white-matter lesions. Neuropathology revealed the loss of large myelinated fibers, increased number of regenerated axon clusters with abnormally thin myelin sheaths, and excessively folded myelin. Genetic analysis identified 14 GJB1 variants, 6 of which were novel. Conclusions These findings expand the phenotypic and genetic spectrum of CMTX1. Although CMTX1 was found to have high phenotypic and CNS involvement variabilities, detailed neurological examinations and nerve conduction studies will provide critical clues for accurate diagnoses. Further exploration of the underlying mechanisms of connexin 32 involvement in neuropathy or CNS dysfunction is warranted to develop promising therapies.

A recently identified protein, FAN1 (FANCD2-associated nuclease 1, previously known as KIAA1018), is a novel nuclease associated with monoubiquitinated FANCD2 that is required for cellular resistance against DNA interstrand crosslinking (ICL) agents. The mechanisms of FAN1 regulation have not yet been explored. Here, we provide evidence that FAN1 is degraded during mitotic exit, suggesting that FAN1 may be a mitotic substrate of the anaphase-promoting cyclosome complex (APC/C). Indeed, Cdh1, but not Cdc20, was capable of regulating the protein level of FAN1 through the KEN box and the D-box. Moreover, the up- and down-regulation of FAN1 affected the progression to mitotic exit. Collectively, these data suggest that FAN1 may be a new mitotic substrate of APC/CCdh1 that plays a key role during mitotic exit.
Anaphase-Promoting Complex-Cyclosome ; Bone Neoplasms ; metabolism ; pathology ; Cadherins ; genetics ; metabolism ; Cdc20 Proteins ; Cell Cycle Proteins ; genetics ; metabolism ; Cell Line, Tumor ; Exodeoxyribonucleases ; genetics ; metabolism ; HEK293 Cells ; Humans ; Mitosis ; Osteosarcoma ; metabolism ; pathology ; Ubiquitin-Protein Ligase Complexes ; genetics ; metabolism

Objective:To investigate the clinical and genetic characteristics of patients with late-onset subtypes (adolescent or adult) of Krabbe disease.Methods:The clinical data of 7 patients with Krabbe disease admitted to Shanghai Jiao Tong University Affiliated Sixth People′s Hospital and Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from September 2006 to June 2021 were analyzed and Sanger sequencing of the galactosylceramidase (GALC) gene (NM_000153) and detection of the activity of GALC were conducted. A total of 61 cases of Krabbe disease reported in domestic literature were reviewed and summarized.Results:Among the 7 patients with Krabbe disease, there were 4 males and 3 females. All of them had lower limb weakness or walking difficulty as the initial symptoms, and presented as spastic paraplegia. The symptoms were relatively mild in patients with late onset. There were 4 out of 5 patients undergoing magnetic resonance imaging examination, who showed abnormal signals: 2 had brain atrophy and the remaining 2 had white matter lesions. A total of 5 GALC gene mutations were detected by genetic analysis. Among these, c.1901T>C (p.L634S), c.908C>T(p.S303F) and c.461C>A(p.P154H) are known variants, while c.50_51insTT (p.M17Ifs) and c.1130delT(p.L337X) are novel variants reported for the first time in this paper.Conclusions:Krabbe disease is a rare neurodegenerative disease with phenotypic heterogeneity, which is inherited in an autosomal recessive mode. The severity of clinical manifestations of Krabbe disease is correlated with the age of onset.

Objective:To summarize and analyze the clinical and genetic characteristics of Chinese patients with adrenomyeloneuropathy (AMN).Methods:Clinical data were collected and analyzed retrospectively on AMN patients who were diagnosed by genetic testing in Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University School of Medicine from May 2008 to August 2022. Clinical characteristics of AMN patients with different types of gene mutations were compared. Loe score was used to evaluate the severity of white matter demyelinating, and the serum levels of very long-chain fatty acids (VLCFA) in patients with or without white matter demyelinating were compared. The motor function of the AMN patients was assessed using the Expanded Disability Status Scale (EDSS), and the association between EDSS scores and the course of disease was analyzed.Results:A total of 23 male patients with onset age of (29.52±9.91) years were included in this study. The first symptom of all patients was abnormal lower extremities, of which 17 patients showed stiffness and weakness in their lower limbs (73.9%, 17/23), and 6 patients showed numbness and pain in both lower limbs (26.1%, 6/23). The occurrence of symptoms was not related to the type of gene mutation. White matter demyelination occurred in 33.3% (7/21) of patients over a disease duration of (7.67±4.46) years. There was no statistically significant difference in serum VLCFA level between the white-matter demyelination group and the non-demyelination group. The EDSS score was positively correlated with the disease duration ( r=0.57, P=0.006). Sixteen ABCD1 gene mutations were found in this study, among which c.5_19delinsTCTCCAGG (p.P2Lfs *12) was reported for the first time. Four probands belonging to different families carried the c.1415_1416del (p.Q472Rfs *83) variant. Conclusions:Lower limb movement disorders and sensory dysfunction are the prominent clinical manifestations in AMN patients, with deterioration of motor function associated with the course of disease. AMN may be converted to cerebral type and VLCFA concentration is not associated with the phenotypic changes. The c.1415_1416del (p.Q472Rfs *83) mutation is a hot spot mutation of the disease.

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

OBJECTIVETo evaluate the predictive value of the position of the hyoid in surgical outcomes of velopharyngeal surgery for obstructive sleep apnea hypopnea syndrome (OSAHS).

METHODSThe polysomnography, CT, and anthropometry data were retrospectively reviewed from patients who underwent revised uvulopalatopharyngoplasty with uvula preservation (H-UPPP) simply or the combination of H-UPPP and transpalatal advance pharyngoplasty (TAP) for OSAHS from July 2008 to December 2011. OSAHS was diagnosed by polysomnography (PSG) in 128 patients who underwent H-UPPP or H-UPPP with TAP surgery for their sleep disorder. After surgical treatment, the patients were evaluated by PSG.

RESULTSThe 128 patients included were all male, the mean age of these patients was (39.6±8.5) years, ranged from 19 to 66 years. Seventy-seven patients were successfully treated and 51 did not respond to surgical treatment. The overall apnea hypopnea index (AHI) improved from (58.2±22.4) times/h preoperatively to (20.6±18.1) times/h postoperatively (t=14.9, P<0.001). The vertical distance from inferior margin of hyoid to the inferior mandibular margin (D-HM) was the only parameter that had a significant difference between responders [(14.6±7.7)mm] and non-responders [(19.4±8.0)mm] (t=3.452, P=0.001). D-HM, AHI and the lowest blood oxygen saturation were significant predictors of surgical outcomes (P<0.05). There was a significant correlation between the D-HM and the postoperative AHI (r=0.284, P=0.001). The D-HM of ≥23 mm could predict the postoperative AHI of >10 times/h a specificity of 95.2%.

CONCLUSIONThe D-HM is a negative predictor of surgical outcomes, patients with a D-HM of ≥23 mm are inappropriate candidates for velopharyngeal surgery.

Adult ; Anthropometry ; Humans ; Hyoid Bone ; Male ; Mandible ; Middle Aged ; Palate ; Pharynx ; Polysomnography ; Postoperative Period ; Retrospective Studies ; Sleep Apnea, Obstructive ; surgery ; Treatment Outcome ; Uvula