Clinical characteristics and treatment of central nervous system aspergillosis: an analysis of 37 cases / 中华神经科杂志

Objective:To summarize the clinical characteristics and therapeutic efficacy of central nervous system (CNS) aspergillosis.Methods:The clinical manifestations, laboratory examination, neuroimaging features, treatment and prognosis of 37 cases of CNS aspergillosis diagnosed and treated in the First Medical Center of People′s Liberation Army General Hospital from January 2000 to January 2021 were retrospectively analyzed. According to the correlation between intracranial lesions and paranasal sinus lesions, they were divided into two groups: rhino-cerebral aspergillosis (RA, n=21) group and cerebral aspergillosis (CA, n=16) group. Results:Only 16.2% (6/37) of CNS aspergillosis patients had a clear background of immunosuppression, but 35.1% (13/37) were complicated with diabetes. The most common clinical manifestations were headache (73.0%, 27/37), cranial nerve involvement (59.5%, 22/37) and fever (37.8%, 14/37). Cerebrospinal fluid characteristics included increased pressure (53.8%, 14/26), increased white blood cell count (46.7%, 14/30), decreased glucose (30.0%, 9/30), increased protein (70.0%, 21/30), and high positive results of the metagenomic next-generation sequencing (mNGS) of pathogenic microorganism (7/10). Cranial magnetic resonance imaging showed that commonly involved sites were sinus, orbital apex, posterior orbit, cavernous sinus (43.2%, 16/37) and cerebral lobes (27.0%, 10/37). Treatment options included antifungal drugs alone (64.9%, 24/37), combination of drugs and surgery (27.0%, 10/37) and surgery alone (8.1%, 3/37). Compared with the CA group, RA group had fewer males [47.6% (10/21) vs 14/16, χ2=6.34, P=0.012] and older age [(54.2±19.4) years vs (38.4±18.4) years, t=2.50, P=0.017], and was more prone to headache [85.7% (18/21) vs 9/16, χ2=4.00, P=0.046) and cranial nerve involvement [81.0% (17/21) vs 5/16, χ 2=9.31, P=0.006]. The misdiagnosis rate of these patients in the early stage was 73.0% (27/37). A total of 29 patients (85.3%, 29/34) were treated with voriconazole successively, and the course of treatment was 3.0 (0.5, 10.4) months. Compared with salvage therapy, the mortality of primary therapy was lower (4/17 vs 9/12, χ2=7.54, P=0.006). All patients were followed up to December 2021, and 17 patients died, with a mortality rate of 45.9% (17/37). Conclusions:CNS aspergillosis may have no definite immunosuppressive background. Some of CNS aspergillosis patients are complicated with diabetes, and the clinical manifestations of the disease lack specificity, with high misdiagnosis rate in the early stage, no inflammatory changes in cerebrospinal fluid, and high positive rate of mNGS for pathogenic microorganism. Early and long-term application of voriconazole can significantly reduce the mortality rate.

Preparation of Fe3O4@SW-MIL-101-NH2 for selective pre-concentration of chlorogenic acid metabolites in rat plasma,urine,and feces samples / 药物分析学报

An innovative sandwich-structural Fe-based metal-organic framework magnetic material(Fe3O4@SW-MIL-101-NH2)was fabricated using a facile solvothermal method.The characteristic properties of the material were investigated by field emission scanning electron microscopy,transmission electron mi-croscopy(TEM),energy-dispersive X-ray spectroscopy,Fourier transform infrared spectroscopy,X-ray powder diffraction,vibrating sample magnetometry,and Brunauer-Emmett-Teller measurements.Fe3O4@SW-MIL-101-NH2 is associated with advantages,such as robust magnetic properties,high specific surface area,and satisfactory storage stability,as well as good selective recognition ability for chlorogenic acid(CA)and its metabolites via chelation,hydrogen bonding,and π-interaction.The results of the static adsorption experiment indicated that Fe3O4@SW-MIL-101-NH2 possessed a high adsorption capacity toward CA and its isomers,cryptochlorogenic acid(CCA)and neochlorogenic acid(NCA),and the adsorption behaviors were fitted using the Langmuir adsorption isotherm model.Then,a strategy using magnetic solid-phase extraction(MSPE)and ultra-performance liquid chromatography coupled with quadrupole time-of-flight tandem mass spectrometry(UPLC-Q-TOF MS/MS)was developed and suc-cessfully employed for the selective pre-concentration and rapid identification of CA metabolites in rat plasma,urine,and feces samples.This work presents a prospective strategy for the synthesis of magnetic adsorbents and the high-efficiency pretreatment of CA metabolites.

Polysaccharide from Phellinus igniarius alleviates oxidative stress and hepatic fibrosis in Schistosoma japonicum-infected mice / 中国血吸虫病防治杂志

Objective To evaluate the role of polysaccharide from Phellinus igniarius (PPI) in the improvement of oxidative stress, hepatic granuloma and hepatic fibrosis in Schistosoma japonicum-iniected in mice. Methods The mouse model of schistosomiasis was established by S. japonicum cercariae infection via the abdomen. Balb/c mice were randomly assigned into 5 groups, including the healthy control group (Group A), infection control group (Group B), PPI treatment group (Group C), praziquantel treatment group (Group D) and PPI-praziquantel combination group (Group E), of 10 mice in each group. Each mouse in groups B, C, D and E was infected with (30 ± 2) S. japonicum cercariae. Then, mice in groups D and E were given praziquantel by gavage at a dose of 500 mg/kg for successive two days on day 42 post-infection, while mice in groups C and E were given PPI by gavage at a dose of 400 mg/kg for successive 30 days on day 42 post-infection. Histopathological changes of hepatic tissues were observed using hematoxylin-eosin (HE) staining, and serum levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), hyaluronic acid (HA), laminin (LN) were determined, while the activities of malondialdehyde (MDA), superoxide dismutase (SOD), glutathione peroxidase (GSH-PX), glutathione reductase (GSH-R) and glutathione (GSH) were detected in Mouse liver homogenates. The expression of transforming growth factor-beta (TGF-β) and alpha-smooth muscle actin (α-SMA) was quantified in hepatic tissues using immunohistochemistry, and the Nrf2 and Gsta4 gene expression was quantified using quantitative real-time PCR (qPCR) assay. Results Untreated mice presented typical pathological changes of schistosomal hepatic disorders, while PPI treatment effectively alleviated hepatic egg granulomas and collagen deposition. S. japonicum infection resulted in aggravation of hepatic lipid peroxidation, induction of oxidative stress, elevated serum MDA level and a reduction in the activity of GSH and antioxidant enzymes activities in mice. As compared to infected but untreated mice, PPI treatment suppressed hepatic lipid peroxidation, increased the GSH activity and restored the activity of antioxidant enzymes. In addition, PPI treatment inhibited the TGF-β signaling pathway and up-regulated the Nrf2 and Gsta4 gene expression. Conclusions PPI plays a critical role in the treatment of schistosomiasis-induced hepatic fibrosis. It may improve oxidative stress damages through up-regulating Nrf2 and Gsta4 gene expression, thereby suppressing the development of hepatic egg granulomas and hepatic fibrosis.

Polysaccharide from Phellinus igniarius alleviates oxidative stress and hepatic fibrosis in Schistosoma japonicum-infected mice / 中国血吸虫病防治杂志

Objective To evaluate the role of polysaccharide from Phellinus igniarius (PPI) in the improvement of oxidative stress, hepatic granuloma and hepatic fibrosis in Schistosoma japonicum-iniected in mice. Methods The mouse model of schistosomiasis was established by S. japonicum cercariae infection via the abdomen. Balb/c mice were randomly assigned into 5 groups, including the healthy control group (Group A), infection control group (Group B), PPI treatment group (Group C), praziquantel treatment group (Group D) and PPI-praziquantel combination group (Group E), of 10 mice in each group. Each mouse in groups B, C, D and E was infected with (30 ± 2) S. japonicum cercariae. Then, mice in groups D and E were given praziquantel by gavage at a dose of 500 mg/kg for successive two days on day 42 post-infection, while mice in groups C and E were given PPI by gavage at a dose of 400 mg/kg for successive 30 days on day 42 post-infection. Histopathological changes of hepatic tissues were observed using hematoxylin-eosin (HE) staining, and serum levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), hyaluronic acid (HA), laminin (LN) were determined, while the activities of malondialdehyde (MDA), superoxide dismutase (SOD), glutathione peroxidase (GSH-PX), glutathione reductase (GSH-R) and glutathione (GSH) were detected in Mouse liver homogenates. The expression of transforming growth factor-beta (TGF-β) and alpha-smooth muscle actin (α-SMA) was quantified in hepatic tissues using immunohistochemistry, and the Nrf2 and Gsta4 gene expression was quantified using quantitative real-time PCR (qPCR) assay. Results Untreated mice presented typical pathological changes of schistosomal hepatic disorders, while PPI treatment effectively alleviated hepatic egg granulomas and collagen deposition. S. japonicum infection resulted in aggravation of hepatic lipid peroxidation, induction of oxidative stress, elevated serum MDA level and a reduction in the activity of GSH and antioxidant enzymes activities in mice. As compared to infected but untreated mice, PPI treatment suppressed hepatic lipid peroxidation, increased the GSH activity and restored the activity of antioxidant enzymes. In addition, PPI treatment inhibited the TGF-β signaling pathway and up-regulated the Nrf2 and Gsta4 gene expression. Conclusions PPI plays a critical role in the treatment of schistosomiasis-induced hepatic fibrosis. It may improve oxidative stress damages through up-regulating Nrf2 and Gsta4 gene expression, thereby suppressing the development of hepatic egg granulomas and hepatic fibrosis.

Effect of 2Me, DTT, ZAAP and Enzyme on JMH Antigen on the Surface of Human Erythrocytes / 中国实验血液学杂志

OBJECTIVE@#To explore the the effects of 2-Me, DTT, papain, pineapple protease and ZZAP on the antigenicity of JMH antigen of human red blood cells (RBC) surface.@*METHODS@#Firstly, human RBC were treated with 2-Me, DTT, pineapple protease, papain and ZZAP reagents, respectively. The antigenicity of JMH antigen on human RBC surface was detected and analyzed by flow cytometry.@*RESULTS@#Flow cytometric analysis found that compared with level before treatment, the antigenicity of JMH antigen on RBC surface was significantly reduced after 2-Me treatment, the positive rate of JMH antigen: 69.5%±4.5% vs 56.5%±3.4% (t=12.44, P＜0.01); fluorescence intensity: 4906±317 vs 3003±165 (t=11.84, P＜0.01). The antigenicity of JMH antigen on RBC surface significantly increased after DTT treatment, showing the positive rate of JMH antigen: 61.7%±3.8% vs 75.5±4.9% (t=16.57, P＜0.01), fluorescence intensity: 4044±294 vs 4854±319 (t=15.46, P＜0.01). However, both bromelain and papain could significantly reduce the antigenicity of JMH antigen on the RBC surface, Bromelain: the positive rate of JMH antigen: 62.2%±3.8% vs 8.8%±1.2% (t=26.44, P＜0.01), fluorescence intensity: 4263±273 vs 1444±212 (t=19.27, P＜0.01); Papain: the positive rate of JMH antigen: 62.8%±3.6% vs 8.8%±1.5% (t=21.38, P＜0.01), fluorescence intensity: 4389±284 vs 1458±230 (t=17.49, P＜0.01). The flow cytometric analysis revealed that ZZAP treatment significantly reduced the antigenicity of JMH antigen on the RBC surface, the positive rate of JMH antigen: 62.2%±4.4% vs 48.2%±4.1% (t=14.87, P＜0.01), fluorescence intensity: 4106±263 vs 2063±175 (t=17.49, P＜0.01).@*CONCLUSION@#The treatment with 2-Me can reduce the antigenicity of JMH antigen on human RBC surface. The antigenicity of JMH antigen on human RBC surface increased after DTT treatment. The antigenicity of JMH antigen on human RBC surface significantly reduces after the treatment with pineapple protease or papain. ZZAP treatment can reduce the antigenicity of JMH antigen on the RBC surface.

DiagnosticvalueofDWIwithultrahighbvalueinpredictionofaggressiveprostatecancer / 实用放射学杂志

Objective ToinvestigatethediagnosticvalueofADC withhigherbvaluefortheaggressivenessofprostatecancer. Methods 52patientswithpathologicallyprovedprostatecarcinomawerestudiedretrospectively.AllpatientsunderwentroutineMRI andDWIwithbvalueof1000and2000s/mm2.Accordingtothelocationoflesionfrombiopsyreport,aROIwasdrawnonADC mapatcancerousfociwithlowT2WIandhighDWIsignalintensityrespectivelyandtheADCvalueswerecalculated.Fociwereclassifiedinto highriskgroup(Gleasonscore≥8)andlow-intermediateriskgroup(Gleasonscore≤7).TheADCvaluesatb=1000or2000s/mm2between thetwogroupswerecomparedbyttest.ROCcurvewasusedtodeterminetheabilityofdifferentb-values.Relationshipsbetween meanADCvaluesinfociatb=1000or2000s/mm2andtumorGleasonscorewereassessedusingthe S pear m an test.Results Thereweresignificantdifferencesbetweenthehigh-riskgroupandthelow-intermediategroup(P<0.05)undertwob-values(b=1000s/mm2 andb=2000s/mm2).TheareaundertheROCcurveofb=1000s/mm2andb=2000s/mm2 ADCvaluesindifferentiatingthetwo groupswas0.858(P<0.05)and0.902(P<0.05)respectively,andnosignificantdifferencewasobservedintheAUCofbothgroups(P=0.222). ADCvaluesoftumorregionswerenegativecorrelatedwithtumorGleasonscoreat1000s/mm2(r=-0.709,P<0.05)and2000s/mm2 (r=-0.814,P<0.05)respectively.Although,nosignificantdifferencewasobservedinthecorrelationcoefficient(ρ)betweentwo groups(P=02.09).Conclusion ADCvaluesofbothb=1000and2000s/mm2havecorrelationwithGleasonscores.Thediagnosticperformanceof highb-value(2000s/mm2)ADCissuperiortonormalb-value(b=1000s/mm2)ADCinassessmentoftumoraggressiveness.

Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI). Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.</p><p><b>METHODS</b>To decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years.</p><p><b>RESULTS</b>We identified a pathogenic missense mutation, c. 2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL). The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient.</p><p><b>CONCLUSIONS</b>We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.</p>

Methylation of SFRP1 gene promoter in cutaneous squamous cell carcinoma tissue / 中华皮肤科杂志

Objective To investigate the relationship between SFRP1 gene and clinicopathologic features of cutaneous squamous cell carcinoma (CSCC), and to explore the possible mechanism of action of SFRP1 in the occurrence and development of CSCC.Methods CSCC and paracarcinomatous tissue specimens were obtained from 40 patients with CSCC, and normal skin tissue specimens from 40 healthy human controls.The EpiTYPER assay was conducted to evaluate the methylation status of SFRP1 gene promoter in all the specimens with a MassARRAY mass spectrometer.Results Totally, the methylation status of 1951 (86.52％, 1951/2255) CpG motifs were evaluated in 17 CpG loci in 2 fragments of the SFRP1 gene promoter.The methylation rate significantly differed in 10 (10/17, 58.82％) CpG loci between the CSCC and paracarcinomatous tissue specimens, and in 5 (5/17, 29.41％) CpG loci between the paracarcinomatous and normal tissue specimens (all P ＜ 0.05).Furthermore, significant differences were observed in the methylation rates of three CpG loci (CpG 1_5, CpG 1_7, CpG 2_8) in the SFRP1 gene promoter between tissue specimens from different pathological grades of CSCC (P ＜ 0.05), and their methylation rates sequentially decreased from grade Ⅲ to grade Ⅱ and Ⅰ.Conclusion The frequency of methylation is high in the SFRP1 gene promoter in patients with CSCC, and the SFRP1 gene may participate in the occurrence and development of CSCC.

One case report of pharyngeal bursa invasive fungal disease with lower cranial nerve involvement as the first manifestation / 临床耳鼻咽喉头颈外科杂志

To increase the identification of pharyngeal bursa invasive fungal disease with lower cranial nerve involvement, reduce the misdiagnosis and improve the awareness of invasive fungal disease. We report the clinical data of a case with lower cranial nerve involvement as the first manifestation and reviewed the related literature.

Using support vector machine to predict eco-environment burden: a case study of Wuhan, Hubei Province, China / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>The human socio-economic development depends on the planet's natural capital. Humans have had a considerable impact on the earth, such as resources depression and environment deterioration. The objective of this study was to assess the impact of socio-economic development on the ecological environment of Wuhan, Hubei Province, China, during the general planning period 2006-2020.</p><p><b>METHODS</b>Support vector machine (SVM) model was constructed to simulate the process of eco-economic system of Wuhan. Socio-economic factors of urban total ecological footprint (TEF) were selected by partial least squares (PLS) and leave-one-out cross validation (LOOCV). Historical data of socio-economic factors as inputs, and corresponding historical data of TEF as target outputs, were presented to identify and validate the SVM model. When predicted input data after 2005 were presented to trained model as generalization sets, TEFs of 2005, 2006,..., till 2020 were simulated as output in succession.</p><p><b>RESULTS</b>Up to 2020, the district would have suffered an accumulative TEF of 28.374 million gha, which was over 1.5 times that of 2004 and nearly 3 times that of 1988. The per capita EF would be up to 3.019 gha in 2020.</p><p><b>CONCLUSIONS</b>The simulation indicated that although the increase rate of GDP would be restricted in a lower level during the general planning period, urban ecological environment burden could not respond to the socio-economic circumstances promptly. SVM provides tools for dynamic assessment of regional eco-environment. However, there still exist limitations and disadvantages in the model. We believe that the next logical step in deriving better dynamic models of ecosystem is to integrate SVM and other algorithms or technologies.</p>

Management of inverted papilloma in frontal sinus / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To introduce the experience of management of inverted papilloma in frontal sinus in hospital.</p><p><b>METHODS</b>Six patients with inverted papilloma in frontal sinus treated between 1999 and 2006 were reported, with special emphasis on the clinical symptoms, surgical technique and prognosis.</p><p><b>RESULTS</b>Among 6 patients with frontal sinus involvement, there were 5 males and 1 female, aged between 24 and 66 years. All 6 patients were managed with endoscopic resection and additional open approach (glabellar nasal keyhole approach). Follow-up ranged from 2 -8 years. Five patients treated with this protocol remained disease free, and 1 patient died of tumor recurrence and malignant degeneration 16 years after the first surgical management of sinonasal inverted papilloma.</p><p><b>CONCLUSIONS</b>The appropriate management of inverted papilloma involving the frontal sinus is combined open/endoscopic approach. The tumor extended into the lateral, far superior, and anterior aspects of the frontal sinus is truly at the limits of current endoscopic instrumentation. In order to avoid recurrence, the tumor must be resected completely during the operation. Postoperative radiotherapy is not absolutely necessary.</p>

Estrogen-like activity of volatile components from Vitex rotundifolia L.

BACKGROUND & OBJECTIVES: The fruits of Vitex rotundifolia L. are used as a traditional medicine in China. Dried fruits of V. rotundifolia (rich in essential oils) have been known to show strong estrogenic activity. Therefore, we investigated volatile components in the essential oil isolated from the fruits of V. rotundifolia and its estrogen-like biological activity in human breast adenocarcinoma cells. METHODS: Essential oil was extracted by SFE (supercritical fluid extraction) and its chemical composition was analysed by gas chromatography-mass spectrometry (GC-MS). The estrogenic activity of essential oil was evaluated in the MCF-7 cells by proliferation assay. RESULTS: The chemical composition of 40 compounds was determined and this represented 84.1 per cent of the total oil which was characterized by a high content of unsaturated fatty acids (54.84% of total oil). The oil contained mainly linoleic acid (47.46%), palmitic acid (5.18%), untriacontane (2.28%), bicetyl (2.61%) and stearic acid (2.2%). The essential oil strongly stimulated the proliferation of MCF-7 cells, and this effect was significantly inhibited by the specific estrogen receptor antagonist ICI 182,780. INTERPRETATION & CONCLUSION: Our results showed estrogen-like biological activity of the essential oil of the fruits from V. rotundifolia, and in future has a potential medical application.

FDG PET/CT versus PET alone for pre-surgical detection of lymph node metastasis in esophageal carcinoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To compare the combined FDG PET/CT with PET alone in the detection of lymph node metastasis (LNM) for esophageal carcinoma patient.</p><p><b>METHODS</b>From November 2003 to August 2005, 35 patients with esophageal carcinoma underwent FDG PET/CT before esophagectomy and lymph node (LN) dissection. The patients who had history of previous anticancer treatment or diabetes mellitus and inflammatory lung diseases as well as being inoperable for medical reasons were excluded. The results of LNM detection by PET/CT and PET alone were compared with pathological results.</p><p><b>RESULTS</b>Twenty-nine men and 6 women were eligible for this study, with a mean age of 57 years (range: 40 to 72 years). Of these 35 patients, 3 had lesion at the upper third thoracic esophagus, 22 at the middle third and 10 at the lower third. All patients underwent surgical resection successfully. Twenty-five patients and 65 out of 313 excised nodal groups were found to have metastases by pathological examination. The true positive and true negative LNM interpretation reached 61 and 229 LN groups on PET/CT versus 53 and 217 LN groups on PET alone. False negative LNM interpretation was found in 12 LN groups on PET alone, and 8 of them were corrected by PET/CT including one cervical LN, 4 paraesophageal LNs, one left gastric arterial LN, one left gastric cardia LN, one lesser gastric curve LN. False positive interpretations on PET alone were found in 31 LN groups, 12 of them were corrected by PET/CT which included 9 false-positive interpretations due to physical tracer uptake (2 in the cervical region and 7 in gastrointestinal tract ) and 3 lesions with heterogeneous tracer uptake in the primary tumor. The sensitivity, specificity and accuracy of LNM detection by PET alone was 81.54% (53/65), 87.50% (217/248), and 86.26% (270/313), whereas by PET/CT, which was 93.85% (61/65), 91.24% (229/248) and 92.65% (290/313), respectively. There were statistically significant differences in sensitivity and accuracy of LNM detection between PET/CT and PET alone (0.033 and 0.009).</p><p><b>CONCLUSION</b>Compared with FDG PET alone, FDG PET combined with CT can improve the sensitivity and accuracy in detection of lymph node metastasis in esophageal carcinoma.</p>

Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11 / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To map the gene locus in a Chinese pedigree with autosomal dominant nonsyndromic hearing loss.</p><p><b>METHODS</b>A genome wide screening was performed with 394 microsatellite markers distributed with an average spacing of 10 cM (ABI Prism Linkage Mapping Set 2, Applied Biosystems, Foster City, CA, U.S.A.).</p><p><b>RESULTS</b>Affected family members showed a bilateral, symmetrical, progressive neurosensory deafness. Significant linkage was found to marker D1 S937 (maximum two point LOD score of 5. 71 at theta = 0.05) on chromosome 11q. The position of the novel deafness locus, DFNA11, was delimited by analysis of the recombinant haplotypes (D11S165-D11S1874). This analysis placed DFNA11 between the proximal marker D11S1314 and the distal marker D11S898, which define a critical interval of 25.34 cM.</p><p><b>CONCLUSIONS</b>Mapping of the DFNA11 locus further confirms the great genetic heterogeneity underlying the autosomal dominant forms of hereditary deafness. Reports of more families with hearing impairment linked to this locus should contribute to the identification of the responsible gene, providing insights into the auditory function and the molecular pathophysiology of age related hearing loss.</p>

Improved Z-open door expensive laminoplasty for cervical ossification of the posterior longitudinal ligament / 中国矫形外科杂志

[Objective]To investigate the effects of the expansive Z-open-door laminoplasty for the ossification of posterior longitudinal ligaments(OPLL).[Methods]Thirty-six cases of OPLL were operated by the expansive Z-open-door laminoplasty.According to JOA score(17 Points) the proximate effects of all patients were analyzed.[Results]All cases were followed-up for average 18.6 months.JOA improved from 8.3 preoperatively to 13.8 postoperatively.Improved rate averaged 58.6%.Image show:3 of 31cases of anterior protruding type were changed to straight type,5 cases of straight type still kept initial type.None of all cases changed into posterior protruding type after operation.The flexion and extention range of the neck were less 1/3 and the axis-ward pain happened commonly.[Conclusion]Improved expensive Z-open door laminoplasty for DPLL can decompression clearly.It has advantages of adeguate canal expansion,preventing re-dosing the door,and being safe and reliable.

Anterior decompression and stabilization with anterior or posterior instrumentation for treatment of the serious thoracolumbar burst fractures / 中国矫形外科杂志

[Objective]To evaluate the clinical effect for the treatment of severe thoracolumbar vertebral burst fracture by the method of anterior vertebral decompression and fusion combining anterior or posterior fixation,and investigate its indications in different conditions.[Method]At the standard of Denis,twenty-eight cases were treated by anterior vertebral decompression and fusion combining anterior or posterior fixation.In a total of 28 cases,25cases were single vertebral fractures,2 cases were two adjacent vertebral fractures and 1 case was two vertebral fractures comparted by one unfractured centrum,the level of vertebral destruction was ruled by LSC scale of McCormack.[Result]26 cases were reviewed,all patients' pain were relieved obviously after the operation,(VAS scale improved),the height and shape of the fractured centrums recovered obviously(Cobb's angle improved 14.5? in average).After an average of 21.5 months follow-up,the pain all disappeared,the intervertebral grafted bone reached bony union,no Cobb's angle increased and no apparent implication occurred in all cases.[Conclusion]Application of anterior vertebral decompression and fusion combining anterior or posterior fixation can increase the stability of the anterior column of the spine,decompress completely,the intervertebral bone graft with kinds of interbody fixation enables the patients to move as early as possible,it is an effective method in treatment of severe thoracolumbar vertebral burst fracture.

Molecular analysis of mitochondrial DNA A1555G and connexin 26 gene(GJB2) in Chinese Northwest population with nonsyndromic sensorineural hearing loss / 中国耳鼻咽喉头颈外科

OBJECTIVE To investigate the incidence of the mitochondrial DNA 12SrRNA A1555G and connexin 26 gene (GJB2) in Chinese northwest population with nonsyndromic sensorineural hearing loss,and to explore the relationship between mitochondrial DNA A1555G and mutation of GJB2 gene. METHODS Blood samples were obtained from 221 patients with nonsyndromic sensorineural hearing loss in Northwest of China; Genomic DNA was extracted from the isolated leukocytes ; Screening the mitochondrial A1555G mutation by PCR-Alw26l digestion and sequence analysis, PCR and direct sequencing were used to analyze the coding region of GJB2 gene. RESULTS The homoplasmic A1555G mutation was found in 21 individuals of 221 patients,17 of these 21 patients had been treated with aminoglycosides. Eleven different variants of GJB2 were found in all patients ,the disease-causing mutations of GJB2 were 44 individuals in these patients(44/221), The mutation 235delC is found in 54.54 % of all disease-causing mutations ; Among 21 patients with the A1555G mutation, 11 cases were found polymorphic change in GJB2 gene ,only 1 case had V37I heterozygous mutations ,other 9 cases were not found any nucleotide changes of GJB2 gene. CONCLUSION The mtDNA 12SrRNA A1555G mutation has a high incidence in Chinese northwest population with non-syndromic sensorineural hearing loss.The 235delC mutation in the GJB2 gene is most frequent mutations responsible for non-syndromic hearing impairment in this region .It is unlikely that the GJB2 gene is a major modulatory factor for hearing loss due to the A1555G mutation in Chinese population.

A novel mutation of GJB6 in Chinese sporadic non-syndromic hearing impairment / 中国耳鼻咽喉头颈外科

OBJECTIVE To investigate the contribution of the GJB6 gene [encoding connexin 30 (C?30)] mutations in Chinese population with sporadic non-syndromic hearing impairment. METHODS PCR reactions were performed with two pair of primers for the coding sequence of GJB6 gene and for the deletion of GJB6. PCR products bidirectional sequencing was subsequently applied in 214 patients with hearing loss and 86 normal controls. RESULTS A novel heterozygous mutation-233(C→A) was found, which results in amino acid change, A78D. This mutation wasn't detected in the control subjects. The altered valine residue lies within the second conserved transmembrane domain. The large deletion△(GJB6/ D13S1830)] of GJB6 was not found in this group. CONCLUSION The large deletion of GJB6 was not found in the Chinese deafness population. A novel heterozygous mutation of GJB6 was found. These results indicated GJB6 mutations are not a major cause of hearing loss in the Chinese population.

Detection of KCNN4 and KPTN gene mutations in Chinese DFNA4 family / 中国耳鼻咽喉头颈外科

OBJECTIVE To investigate whether the KCNN4 gene and KPTN gene contribute to a Chinese non-syndromic hearing loss pedigree linked to DFNA4 with positional candidate approach. METHODS The complete coding region of the two genes were amplified with polymerase chain reaction (PCR), and bidirectional sequencing of the PCR products was subsequently applied in the 36 family members to identify the possible mutations or polymorphisms in the candidate genes. RESULTS Sequence analysis of coding regions and splice sites of the two candidate genes in 36 members including 12 hearing-impaired individuals in family Z002 failed to demonstrate any deafness-causing mutations of KCNN4 gene. There was one heterozygous mutation identified in exon10 coding sequence (942C/T) of KPTN gene, which did not result in amino acid change (P302P) as a repoerted synonymous SNP site (rs2293424). This SNP site did not cosegregate with the phenotype of family Z002. CONCLUSION Our study excluded the two candidates, KCNN4 and KPTN , as the causative genes involved in this Chinese DFNA4 pedigree.

Positional cloning in Chinese X-linked congenital inner ear malformation family / 中国耳鼻咽喉头颈外科

OBJECTIVE This study aimed at identifying inner ear malformation underlying molecular determinant(s) using a large five-generation Chinese family with multiple familial cases. METHODS Model-based genetic linkage analyses were performed with the use of microsatellite polymorphisms to determine the disease locus. Mutation screening was performed with the family and unrelated population-based controls to establish molecular evidence that caused the specific X-linked inheritance pattern in the family. RESULTS Clinical investigations of the pedigree demonstrated the extremely high penetrance in the male members, but no penetrance in the female members. Linkage analyses mapped the disease to the chromosomal region Xq13.1-Xq23 (maximum X-linkage LOD score = 3.27). Mutation screening of the candidate genes in the linkage region by direct sequencing revealed a de novo missense substitution (925T→C) in the well-known deaf gene POU3F4. Direct sequencing on 110 unrelated controls did not detect any mutation. CONCLUSION a novel mutation of POU3F4 gene was identified to be the causative reason for the hearing loss in family with inner ear malformation.