RESUMO
BACKGROUND: Studies with large size samples on the liver histological changes of indeterminate phase chronic hepatitis B (CHB) patients were not previously conducted. AIM: To assess the liver histological changes in the indeterminate phase CHB patients using liver biopsy. METHODS: The clinical and laboratory data of 1532 untreated CHB patients were collected, and all patients had least once liver biopsy from January 2015 to December 2021. The significant differences among different phases of CHB infection were compared with t-test, and the risk factors of significant liver histological changes were analyzed by the multivariate logistic regression analysis. RESULTS: Among 1532 untreated CHB patients, 814 (53.13%) patients were in the indeterminate phase. Significant liver histological changes (defined as biopsy score ≥ G2 and/or ≥ S2) were found in 488/814 (59.95%) CHB patients in the indeterminate phase. Significant liver histological changes were significant differences among different age, platelets (PLTs), and alanine aminotransferase (ALT) subgroup in indeterminate patient. Multivariate logistic regression analysis indicated that age ≥ 40 years old [adjust odd risk (aOR), 1.44; 95% confidence interval (CI): 1.06-1.97; P = 0.02], PLTs ≤ 150 × 109/L (aOR, 2.99; 95%CI: 1.85-4.83; P < 0.0001), and ALT ≥ upper limits of normal (aOR, 1.48; 95%CI: 1.08, 2.05, P = 0.0163) were independent risk factors for significant liver histological changes in CHB patients in the indeterminate phase. CONCLUSION: Our results suggested that significant liver histological changes were not rare among the untreated CHB patients in indeterminate phase, and additional strategies are urgently required for the management of these patients.
Assuntos
Neoplasias de Cabeça e Pescoço/mortalidade , Neoplasias Primárias Múltiplas/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/terapia , Prognóstico , Modelos de Riscos ProporcionaisRESUMO
Screening of priority control pollutants is an effective technical means for environmental management and environmental quality protection. Quick and efficient identification of pollutants is useful when attempting to prevent and control groundwater pollution. In order to explore a screening system for a set of priority pollutants that can be applied to regions with weak basic information, a screening method of priority pollutants based on contamination assessment is put forward in this paper. Based on the data of groundwater detection and analysis, using the evaluation method for pollution index classification, and combined with the pollution degree frequency score superposition method. The screening method of priority control pollutants in groundwater based on contamination assessment was established. This method was applied to the screening of pollutants in groundwater in the city of Golmud in Qinghai Province, China. The results were verified by using the screening system based on risk assessment, and the differences in the two systems are discussed. The results show that three categories of 10 kinds of chemical parameters, including TDS, total hardness, chloride, sulfate, sodium, fluorine, total iron, pyrene, phenanthrene, and aluminum, were determined as priority control pollutants in the Golmud region. It was consistent with the results of the screening method based on the risk assessment, and the screening results were reliable. The method based on risk assessment is complex and requires additional basic information, but it has certain foresight and is suitable for regions with abundant basic data. The method based on contamination assessment is simple and convenient and requires less abundant basic data. However, it is easily affected by background values. It is more suitable for the screening of priority control pollutants in regions with weak pollution source information.
RESUMO
PURPOSE: The purpose of this study was to explore the pathway cross-talks and key pathways in non-small cell lung cancer (NSCLC) to better understand the underlying pathological mechanism. METHODS: Integrated gene expression data, pathway data and protein-protein interaction (PPI) data were assessed to identify the pathway regulatory interactions in NSCLC, and constructed the background and disease pathway crosstalk networks, respectively. In this work, the attractor method was implemented to identified the differential pathways, and the rank product (RP) algorithm was used to determine the importance of pathways. RESULTS: Based on 787,896 PPI interactions from STRING database and 300 human pathways from KEGG, we constructed the back pathway cross-talk network with 300 nodes and 42239 edges. Integrating with expression data of NSCLC, each pathway cross-talk endowed with a weight value, and disease pathway cross-talks were identified. By RP algorithm and topology analysis of network, we selected 5 key pathways, including Alanine, DNA replication, Fanconi anemia pathway, Cell cycle and MicroRNAs in cancer under the pre-set thresholds. CONCLUSION: We successfully revealed the disease pathway cross-talks and explored 5 key pathways in NSCLC, which may be the underlying therapeutic targets for lung cancer.
Assuntos
Carcinoma Pulmonar de Células não Pequenas/genética , Redes Reguladoras de Genes/genética , Neoplasias Pulmonares/genética , Carcinoma Pulmonar de Células não Pequenas/patologia , Humanos , Neoplasias Pulmonares/patologiaRESUMO
This study investigated the occurrence, seasonal-spatial distribution characteristics, and attenuation process of 15 pharmaceuticals and personal care products (PPCPs) in riverside sections of Beiyun River of Beijing. The overall PPCP levels both in surface water and riverside groundwater were moderate on the global scale, and showed higher concentrations in the dry season mainly caused by water temperature variation. Caffeine (CF), carbamazepine (CBZ), metoprolol (MTP), N,N-diethyl-meta-toluamide (DEET), diclofenac (DF), bezafibrate (BF), and gemfibrozil (GF) were seven representative PPCPs, because the rest eight studied compounds occurred in low concentrations and less than 15% of the total concentration of PPCPs. Caffeine and bezafibrate, respectively, was the most abundant compound in surface water and riverside groundwater, with median concentrations of 3020.0 and 125.0 ng L-1. Total concentrations of PPCPs in surface water were much higher than those in the riverside groundwater spatially. Attenuation of PPCPs during riverbank filtration was largely depending on the sources, site hydrogeological conditions, and physical-chemical properties of PPCPs, also was influenced by dissolved organic matter and environmental physicochemical parameters. CF, MTP, DEET, and CBZ were potential groundwater attenuation contaminants; DF, BF, and GF were groundwater-enriched contaminants based on their removal rates. Predominant removal mechanism of PPCPs like CF was biodegradation. Attenuation simulation showed that the one-way supply between Beiyun River and riverside groundwater, and further confirmed Beiyun River, was the main source of pharmaceutical compounds in the riverside groundwater.
Assuntos
Cosméticos , Água Subterrânea , Preparações Farmacêuticas , Poluentes Químicos da Água/análise , Pequim , China , Monitoramento Ambiental , RiosRESUMO
OBJECTIVE: To study surgical methods and techniques to reduce complications in carotid body tumors (CBT). METHODS: A total of 36 patients with CBT treated by the same surgeon between 2004 and 2012 was reviewed. Clinical presentation, imaging, surgery techniques, postoperative complications and outcomes as well as follow-up evaluations were analyzed. RESULTS: Of 36 patients, 13 males and 23 females, with a median age of 42 years (range 9-61 years). Nineteen patients had a CBT on the left side, 14 on the right side and 3 on both sides. All patients (36 patients with 38 tumors) received surgical treatment. Twenty nine tumors were excised completely. Kudo clamp was used in 6 cases with solid firm tumors and potentially high risks of intracranial complications, with common carotid artery compression exercise before tumor excision. Blood loss in operation were less than 80 ml(n = 17), 100-550 ml(n = 18), 800 ml (n = 1), 1000 ml(n = 1) and 1500 ml(n = 1) respectively. There were more blood loss in cases used embolization (median of 200 ml) than in those without embolization (median of 60 ml) . Post-operative local nerve impairment occurred in 10 patients (26.3%) including persistence of preexisting deficits (n = 8) and newly developed deficits (n = 2). Twenty-seven patients were followed up for 10 month to 6 years with a mean period of 24 months and 9 patients lost of follow-up. One patient with malignant CBT survived with tumor and other 26 patients were alive with no recurrence. CONCLUSIONS: Surgery is the first choice of treatment for CBT. Soft CBT often can be excised completely with preservation of the internal carotid artery (ICA), whereas solid firm CBT encasing the ICA should be evaluated with DSA preoperatively to determine the presence of communicating branches of cerebral vessels, due to the high risk of major vessel compromise. Two-stage operation is often required, in which the ICA is gradually closed following ligation of the external carotid to establish collateral circulation, followed by excision of the tumor and IAC, so that serious intracranial complications can be avoided.
Assuntos
Tumor do Corpo Carotídeo/cirurgia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Otorrinolaringológicos , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVE: Endolymphatic sac tumors (ELSTs) are rare in the general population with much higher prevalence in von Hippel-Lindau(VHL) disease. The purpose of this study is to present two cases of endolymphatic sac tumor with VHL disease with analysis of VHL gene and to explore their association with VHL disease using molecular analysis. METHODS: Clinical data of these two patients from different VHL families were studied. DNAs extracted from peripheral bloods were amplified by the polymerase chain reaction using oligonucleotide primers corresponding to the VHL gene, then compared the mutations with the Human Gene Mutation Database. RESULTS: In case 1, 6 family members were enrolled in the study. Among them, three had been identified to have a germline missense point mutation at codon 194 of the VHL gene exon 1 (p.S65W). The little sister of the patient (case 1) underwent vitrectomy for retinal hemangioblastoma 5 years ago in another hospital. The mother of the patient (case 1) was further diagnosed to have a cerebellar hemangioblastoma and renal carcinoma in the following physical examination. Case 2 with her parents were also tested. Codon 499 of the VHL gene exon 3 (p.R167W) were detected in case 2 and her mother, but the mother refused further examination. CONCLUSIONS: The genetic diagnosis plays an important role in early detection of symptomatic patients and suspected patients. Clinical screening for members of the VHL families, and close follow-up of carriers allow an early detection of tumors and the metastasis, which is the most common cause of death of these patients.
Assuntos
Neoplasias da Orelha/genética , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética , Adolescente , Adulto , Análise Mutacional de DNA , Neoplasias da Orelha/complicações , Saco Endolinfático , Feminino , HumanosRESUMO
BACKGROUND: Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations. SLC26A4 c.919-2A>G (IVS7-2A>G) is the most common mutation in East Asian deaf populations. To provide a basis for improving the clinical diagnosis of deaf patients, we evaluated 80 patients with the SLC26A4 c.919-2A>G monoallelic mutation from 1065 hearing-impaired subjects and reported the occurrence of a second mutant allele in these patients. METHODS: The occurrence of a second mutant allele in these 80 patients with a single c.919-2A>G mutation was investigated. Mutation screening was performed by bidirectional sequencing in SLC26A4 exons 2 to 6 and 9 to 21. RESULTS: We found that 47/80 patients carried another SLC26A4 c.919-2A>G compound mutation. The five most common mutations were: p.H723R, p.T410M, 15+5G>A (c.1705+5G>A), p.L676Q and p.N392Y. We found a Chinese-specific SLC26A4 mutation spectrum and an associated SLC26A4 contribution to deafness. CONCLUSION: Our study illustrates that mutation analysis of other SLC26A4 exons should be undertaken in deaf patients with a single heterozygous SLC26A4 mutation. Moreover, a model of compound heterozygosity may partially explain the disease phenotype.
Assuntos
Aconselhamento Genético , Perda Auditiva/genética , Heterozigoto , Proteínas de Membrana Transportadoras/genética , Primers do DNA , Humanos , Mutação , Reação em Cadeia da Polimerase , Qualidade da Assistência à Saúde , Transportadores de SulfatoRESUMO
OBJECTIVE: To investigate the histological changes in the vestibular endorgans of Smad4 gene conditional knockout mice and to explore the influence of the Smad4 gene on vestibular development. METHODS: Histological changes of periphery vestibular organs in inner ear of Smad4 conditional knockout mice were investigated by frozen sections, immunofluorescence, confocal microscopy, scanning electron microscopy and transmission electron microscopy. RESULTS: There was no Smad4 expression in the inner ear cartilage capsule of Smad4-/- mice. In Smad4+/- mice, Smad4 expression in the same cartilage capsule was positive, and it was strong positive in Smad4+/+ mice. Smad4 expression in vestibular sense epithelium, crista ampullaris and macula, was positive. And no difference was found among these three genotypes. Studying at scanning electron microscopy and transmission electron microscopy levels and anti-filament immunofluorescence showed that no pathological changes were observed in all the three genotype mice. CONCLUSION: Although the Smad4 gene was knockout effectively in the auricular cartilage capsule of Smad4 conditional knockout mice,the histological changes of Smad4 conditional knockout mice in vestibulum auris internal were slightly.
Assuntos
Orelha Interna/anatomia & histologia , Proteína Smad4/genética , Vestíbulo do Labirinto/anatomia & histologia , Animais , Orelha Interna/patologia , Genótipo , Camundongos , Camundongos Knockout , Vestíbulo do Labirinto/patologiaRESUMO
CONCLUSION: In the current study, hair cells of vestibular terminal organs in rats were completely eliminated with trans-scala vestibuli injection of neomycin, and then the Math1 gene was transferred. It was shown that type I vestibular hair cells were regenerated and synapses were formed. OBJECTIVES: The objective of this study was to identify the cell type of the regenerated vestibular hair cells and relative innervation and synaptic linkage after hair cells of vestibular terminal organs in rats were completely eliminated. METHODS: Neomycin injection was used to eliminate all the vestibular terminal organs, and then the animals were treated with an injection of Ad-Math1-EGFP in the scala vestibuli of the cochlea. RESULTS: Math1 gene transfer into the inner ear induced type I hair cell regeneration and synaptic formation. However, neither the number nor the appearance of the hair cells was normal.
Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Técnicas de Transferência de Genes , Células Ciliadas Vestibulares/fisiologia , Perda Auditiva Neurossensorial/terapia , Regeneração/fisiologia , Animais , Fatores de Transcrição Hélice-Alça-Hélice Básicos/biossíntese , Modelos Animais de Doenças , Feminino , Terapia Genética/métodos , Células Ciliadas Vestibulares/ultraestrutura , Perda Auditiva Neurossensorial/induzido quimicamente , Perda Auditiva Neurossensorial/patologia , Imuno-Histoquímica , Microscopia Confocal , Microscopia Eletrônica de Transmissão e Varredura , Mitose , Neomicina/toxicidade , Ratos , Ratos WistarRESUMO
CONCLUSION: Real-time quantitative polymerase chain reaction (qPCR) with a TaqMan minor groove binding (MGB) probe is useful for large-scale screening for the C1494T mutation. The mitochondrial DNA(mtDNA) C1494T mutation has a low carrier frequency in Chinese patients with nonsyndromic hearing loss. OBJECTIVE: To develop a simple, rapid, and reliable real-time qPCR assay based on TaqMan technology using a new MGB probe for detecting the mtDNA C1494T mutation directly, and to investigate the carrier frequency in nonsyndromic deaf Chinese subjects. METHODS: A TaqMan-MGB probe was constructed. Peripheral blood samples were collected from 3133 nonsyndromic deaf patients and genomic DNA was extracted. A real-time qPCR using MGB probes (wild-type) in a single tube was used to detect the mtDNA C1494T mutation. The results were then compared to the DNA sequence of the PCR products. RESULTS: A total of 13 of 3133 (0.4%) Chinese nonsyndromic hearing loss patients were C1494T-positive. The results of the TaqMan-MGB probe method were consistent with those of sequencing.
Assuntos
DNA Mitocondrial/genética , Surdez/genética , Testes Genéticos/métodos , Mutação , Reação em Cadeia da Polimerase em Tempo Real/métodos , China/epidemiologia , Análise Mutacional de DNA/métodos , Surdez/epidemiologia , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/genética , Humanos , Incidência , RNA Ribossômico/genéticaRESUMO
OBJECTIVE: To study the clinical characteristics, diagnosis and surgical managements of the parapharyngeal space tumors. METHODS: A retrospective study of 40 patients with primary parapharyngeal space tumors treated from January 2006 to December 2008 in Chinese PLA General Hospital was performed. Among the 40 patients, there were male 22 patients, female 18 (45%), age ranged from 1 - 77, median 42 years old. CT scan combined with MRI was helpful to diagnose the parapharyngeal space tumor and make surgical plan. The surgical approaches include: trans-oral in 1 patient, trans-cervical approach in 22, transcervical-parotid approach in 8, vertical ramus osteotomy approach in 1, transcervical-partial bone resection in the angle of mandible in 4, transparotid approach in 2, and transcervical in combination with post auricle craniotomy approach in 2. RESULTS: All 40 patients had undergone surgical treatment. Postoperative histopathology showed benign in 28 patients and malignant in 12 patients. The tumors originating from salivary glands were in 15 patients, neurogenic tumors in 12 patients and tumors originating from other tissues were in 13 patients.Among 28 patients with benign tumors, 23 had been cured with one operation, without recurrence during following-up of 13 - 47 months, with a median of 39 months. Among 12 patients with malignant tumors, 6 patients alive (with following-up of 24 - 50 months and a median of 36 months), 3 patients died in half year after operation and 3 patients lost. The post-operative complication included Cerebrospinal fluid leak in one patient, operative field infection in 2 patients, and vagus nerve injury in 3 patients. CONCLUSIONS: Surgery is the first choice for parapharyngeal space tumors. Transcervical approach alone can apply to most tumors and a broader approach is indicated for malignant or large benign tumors. The prognosis is good for the benign lesions, but poor for the malignant tumors.
Assuntos
Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/cirurgia , Neoplasias Faríngeas/diagnóstico , Neoplasias Faríngeas/cirurgia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVE: To investigate the diagnosis and treatment of the primary tumors at the cervicothoracic junction. METHODS: We analyzed 17 cases of the tumors diagnosed by surgery and histopathology in Chinese PLA General Hospital from Mar. 2005 to Dec.2009. The clinical manifestations, the surgical approaches and surgical complications were analyzed retrospectively. RESULTS: The main partial of the tumors located in left side in 9 patients and in right side in 8 patients. The operation approaches included the lateral cervical incision (1 patient), the combined cervical and thorax incision (3 patients), the supraclavicular cervical incision (6 patients), the combined cervical incision and superior mediastinotomy (7 patients). Except 3 cases in whom the tumors surrounded or sticked to vital blood vessels or nerves had experienced subtotal resection, the remained 14 cases had total ablation. The morbidity occurred in 5 patients, including subclavian artery, vertebral artery and common carotid artery rupture, recurrent laryngeal nerve trauma, brachial plexus trauma and Horner' syndrome. The histopathology included the cyst, the venous haemangioma, the nodes cell neuroma, the fibroma, the fibrosarcoma, the liposarcoma, the myofibroblastic tumor, the ectopic hamartomas thymoma, the neurofibroma, and neurinoma. All the patients were followed up from 1 to 4.5 years post-operatively, with the mean follow-up of 25.3 months. The two malignant patients were alive being free of tumor with follow-up of 3 year and 8 months, and 2 year respectively. The three cases with tumor partial resection were all alive with tumour. The remained 12 benign cases with total tumor total ablation were all alive free of tumour. CONCLUSIONS: The histopathology of the cervicothoracic junction is diversity. But the commonest pathology is neurinoma. When the tumor is extensive, enveloping or involving the vital blood vessel and nerve, it is difficult to get total ablation, and the morbidity is very high.
Assuntos
Neoplasias de Cabeça e Pescoço , Neurilemoma , Neoplasias Torácicas , Adolescente , Adulto , Feminino , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Neurilemoma/diagnóstico , Neurilemoma/cirurgia , Estudos Retrospectivos , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/cirurgia , Adulto JovemRESUMO
The objective of this study was to understand the clinical characteristics of endolymphatic sac tumor and to optimize its diagnosis and treatment. We carried out a retrospective review of 11 patients diagnosed as having endolymphatic sac tumor based on operative findings and pathological features, and their clinical manifestations, differential diagnosis, and surgical approaches are discussed in detail. The lesions of 10 cases were completely surgically resected, two cases via the mastoid approach, 8 cases via the oto-cervical or cranio-oto-cervical combined approach. In one case the tumor was partially removed and the patient received adjuvant radiotherapy. In operation, four cases had facial-hypoglossal neural anastomosis, two cases had great auricular nerve graft, and in four cases the facial nerve integrity remained. Survival follow-up data range from 14 months to 10 years. We conclude that endolymphatic sac tumor is very rare and easily misdiagnosed. Reasonable surgical treatment can provide a good prognosis.
Assuntos
Adenocarcinoma Papilar/cirurgia , Neoplasias da Orelha/cirurgia , Saco Endolinfático , Adenocarcinoma Papilar/diagnóstico , Adulto , Idoso , Neoplasias da Orelha/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To investigate the prevalence and treatment of oral mucositis caused by concurrent chemoradiotherapy and/or molecular targeted therapy in the patients with advanced squamous cell carcinoma of the head and neck. METHODS: A retrospective study of the incidence and treatment of oral mucositis was performed in 179 patients (155 male and 24 female;124 patients at stage III and 55 patients at stage IV) receiving concurrent chemotherapy and (or) molecular targeted therapy between November 2007 and November 2010. Grade I, II, III and IV oral mucositis occurred respectively in 49, 50, 67 and 13 patients. All the patients received oral mucositis prophylaxis. After the occurrence of oral mucositis, conventional treatment of mucositis combined with quinolone antibiotics were applied. RESULTS: Of the patients, 99 patients with grade I or II and 4 patients with grade III oral mucositis were effectively managed by conventional treatment; 76 patients with grade III or IV oral mucositis were also significantly controled by conventional treatment plus antibiotics. After the treatments, all patients with oral mucositis were under control, with the decrease in the grade of oral mucositis, the reduction of oral pain and the improvement in ability to eat. None of them had radiation treatment breaks. CONCLUSIONS: Combined modality therapy can effectively control chemoradiation-induced oral mucositis in patients with head and neck squamous cell carcinoma, grade I and II oral mucositis were cured by conventional treatment and quinolone antibiotics play a key role in the treatments for grade III and IV oral mucositis.
Assuntos
Quimiorradioterapia/efeitos adversos , Terapia de Alvo Molecular/efeitos adversos , Estomatite/tratamento farmacológico , Estomatite/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/radioterapia , Terapia Combinada , Feminino , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/radioterapia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
The regulation of the bone morphogenetic protein (BMP) signal transduction pathway is important in the development of the inner ear and vestibular system. We reported previously that small mothers against decapentaplegic homolog-4 (Smad4) is required for inner ear cochlear development and normal auditory function in mammals; however, the distribution and functional mechanisms of Smad4 at various stages of vestibular development remained unclear. To investigate the relationship between the Smad4 gene and vestibular organ development, we measured changes in the expression of BMP4 and Smad4 during vestibular development in C57BL/6 mice. In addition, vestibular structures, pathologic changes, and the vestibular function of chondrocyte-specific Smad4 knockout mice were compared to those of the control group. We found that the expression of Smad4 in the inner ear was delayed compared with that of BMP4. Moreover, chondrocyte-specific Smad4 knockout homozygous mice showed stunted growth and partial vestibular deformities, but it showed less histologic changes in the vestibular end-organs and saccule dysfunction. These results suggest that Smad4 participates in late-stage shaping of the configuration of the vestibule and development of vestibular functional, but a Smad4-independent pathway for the inner ear vestibular BMP4 signal transduction could not be rule out.
Assuntos
Proteína Smad4/metabolismo , Vestíbulo do Labirinto/anatomia & histologia , Vestíbulo do Labirinto/embriologia , Vestíbulo do Labirinto/fisiologia , Animais , Comportamento Animal/fisiologia , Proteína Morfogenética Óssea 4/genética , Proteína Morfogenética Óssea 4/metabolismo , Potenciais Evocados/fisiologia , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Transdução de Sinais/fisiologia , Proteína Smad4/genéticaRESUMO
OBJECTIVE: To discuss the causes, sites, management strategies and curative effects of accidental facial nerve paralysis in the middle ear surgery. METHODS: Forty two cases with peripheral facial nerve paralysis following middle ear surgery who underwent surgical exploration and reanimation were analyzed. Facial nerve decompression, primary end-to-end anastomosis, interpositional nerve grafts with the great auricular nerve and nerve substitution of facial-hypoglossal anastomosis were applied to restoration of the facial nerve function. The facial nerve function was graded according to House-Brackmann (HB) Grade. RESULTS: The most common operation complicating iatrogenic facial nerve injury was mastoidectomy, and the common sites of the injured facial nerve were the tympanic segment and pyramid segment. The facial nerve exploration showed facial nerve edema in nine cases (21.4%), injury of the facial nerve sheath was observed in 10 cases (23.8%), partial nerve fibers transection was found in four cases (9.5%), total nerve fibers transection was detected in 17 cases (40.5%) and two cases (4.8%) with facial nerve anatomical integrity. Facial nerve re-animation methods include facial nerve decompression in 24 cases (57.1%), end-to-end anastomosis in two cases (4.8%), end-to-end anastomosis after nerve transfer in two cases (4.8%), interpositional nerve grafts with the great auricular nerve in 10 cases (23.8%) and facial-hypoglossal nerve anastomosis in four cases (9.5%). The facial nerve function was graded according to House-Brackmann Grade before and after surgery. Twenty eight patients were followed up more than one year. For the 17 cases who received facial nerve decompression, four cases recovered to House-Brackmann Grade I, 11 cases recovered to House-Brackmann Grade II, two cases recovered to House-Brackmann Grade III. For the five cases who underwent the great auricular nerve grafting, three cases recovered to House-Brackmann Grade II, two cases recovered to House-Brackmann Grade III. For the four cases who received facial-hypoglossal nerve anastomosis recovered to House-Brackmann Grade III. For the two cases who underwent the end-to-end anastomosis recovered to House-Brackmann Grade II. CONCLUSIONS: The tympanic segment and pyramid segment are more vulnerable to be injured during mastoid surgery. The injured facial nerve should be explored and repaired. The methods include facial nerve decompression, end-to-end anastomosis, end-to-end anastomosis after nerve transfer, interpositional nerve grafts with the great auricular nerve and facial-hypoglossal nerve anastomosis.
Assuntos
Traumatismos do Nervo Facial/diagnóstico , Traumatismos do Nervo Facial/cirurgia , Doença Iatrogênica , Complicações Intraoperatórias , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Orelha/cirurgia , Orelha Média/cirurgia , Traumatismos do Nervo Facial/etiologia , Feminino , Humanos , Masculino , Processo Mastoide/cirurgia , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Otológicos/efeitos adversos , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVE: To investigate the whole sequence of the SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A to G mutation of the gene in China. METHODS: Whole SLC26A4 gene sequence was analyzed by direct sequencing in 80 SLC26A4 gene IVS7-2A to G mutation carriers for the occurrence of a second mutation in the gene. RESULTS: Forty-seven out of the 80 patients were found to have a second heterozygous mutation, whereas a single IVS7-2A to G mutation could be responsible for SNHL in the remaining 33 patients. Three novel mutations, 5+ 2T to A, 14-2A to G and 1825del G, were identified. The five most common mutations include H723R (20%), T410M(5%), C.1705+ 5G to A (15+ 5G to A)(5%), L676Q(5%), and N392Y (3.75%). Exon 17 harbored the most types of compound heterozygosity with the IVS7-2A to G mutation. CONCLUSION: A Chinese specific SLC26A4 diversity was found, and comparable SLC26A4 contributing to deafness. This study suggested that if a heterozygous SLC26A4 mutation is found in a patient with deafness, other exons of the SLC26A4 gene should be analyzed. Furthermore, double heterozygosity of the SLC26A4 gene may also account for some of the disease phenotype.
Assuntos
Análise Mutacional de DNA/métodos , Perda Auditiva Neurossensorial/genética , Proteínas de Membrana Transportadoras/genética , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Sequência de Aminoácidos , Animais , Sequência de Bases , Criança , Pré-Escolar , Feminino , Perda Auditiva Neurossensorial/patologia , Humanos , Masculino , Proteínas de Membrana Transportadoras/química , Camundongos , Dados de Sequência Molecular , Ratos , Transportadores de Sulfato , Adulto JovemRESUMO
OBJECTIVE: To investigate the prevention and rescuing measures of postoperative fatal bleeding induced by carotid blowout in head and neck tumors. METHODS: Seven cases with postoperative carotid bleeding treated from October 2003 to August 2009 were reviewed retrospectively. Of the patients, 6 were with common carotid blowout and one with internal carotid artery blowout. All patients underwent pre- or post-operative radiotherapy for primary head and neck tumours and 3 patients had neck defect repair with deltopectoral skin flap, frontal flap or free radial arm flap respectively. After carotid blowout bleeding, the patients were treated in time with X ray transcatheter intervention including transcatheter arterial embolization (TAE) and self-expanding covered stent implantation, followed by repairing the carotid region with appropriate myocutaneous flaps. RESULTS: Of 7 patients with carotid blowout, 5 patients were successfully rescued with X ray transcatheter intervention, of them 2 with self-expanding covered stent implantation and 2 with TAE respectively, and other 2 patients died due to rapid bleeding. Of the successfully rescued patients, 2 patients were with the repair of carotid area by pectoralis major myocutaneous flap, one by submental flap and one by local flap, but another one not with flap repair. Follow-up showed the 3 patients rescued with self-expanding covered stent implantation were survival for 6, 12, and 20 months, respectively, and the 2 patients rescued with TAE died of repeated carotid blowout in 2 and 13 months later, respectively. CONCLUSIONS: The planned and timely X ray transcatheter intervention is an effective method to treat carotid blowout bleeding in the patients underwent head and neck tumour surgeries. Compared with TAE, self-expanding covered stent implantation may be more reliable for restoring the blood supply of head and neck region, with less complications. One-stage repair of carotid region with myocutaneous flap is of great importance to protect the carotid and to promote the wound healing.