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Objective: Intracapsular enucleation (ICE) of cervical sympathetic chain schwannoma (CSCS) is associated with technical difficulties, with diffuse hemorrhage being the main challenge in our previous attempts. This article presents our new strategy for achieving better hemostasis during ICE procedures in CSCS cases. Methods: A retrospective review of CSCS cases treated at our tertiary medical institution was undertaken between April 2018 and February 2024. Only cases with successful ICE were included. Results: A total of 8 cases were included, with 4 male and 4 female patients and an age range of 23 to 77 (average and median ages were 48.5 and 49.5 years, respectively). The presenting symptom was a neck mass for all the patients, with 4 masses on the left and 4 on the right sides. Enucleation was first undertaken for the first 3 cases (before March 2022), followed by hemostasis; this strategy was quite difficult and time-consuming. For the remaining 5 cases, a new strategy was developed to preemptively manage any potential nourishing vessel between the capsule and tumor parenchyma, which significantly decreased operation time (P = .0155) and facilitated hemorrhage control. First bite syndrome (FBS) was avoided in all cases. Postoperative Horner's syndrome (HS) was avoided in 1 patient (Case 6, new strategy) but occurred in 7 patients, taking 8 days to 1 month to recover with the new strategy (4 patients), significantly shorter (P = .0364) than before (3 patients, 1-3 months). The median duration of follow-up was 20 months. No recurrence was documented. Conclusions: ICE was achieved for CSCS cases, especially with our newly developed strategy, by preemptively and securely managing potential nourishing vessels. Operation time and duration of recovery of postoperative HS could both be shortened. Moreover, FBS could be avoided.
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Objective: Little is known about the association between whole-blood nicotinamide adenine dinucleotide (NAD +) levels and nabothian cysts. This study aimed to assess the association between NAD + levels and nabothian cysts in healthy Chinese women. Methods: Multivariate logistic regression analysis was performed to analyze the association between NAD + levels and nabothian cysts. Results: The mean age was 43.0 ± 11.5 years, and the mean level of NAD + was 31.3 ± 5.3 µmol/L. Nabothian cysts occurred in 184 (27.7%) participants, with single and multiple cysts in 100 (15.0%) and 84 (12.6%) participants, respectively. The total nabothian cyst prevalence gradually decreased from 37.4% to 21.6% from Q1 to Q4 of NAD + and the prevalence of single and multiple nabothian cysts also decreased across the NAD + quartiles. As compared with the highest NAD + quartile (≥ 34.4 µmol/L), the adjusted odds ratios with 95% confidence interval of the NAD + Q1 was 1.89 (1.14-3.14) for total nabothian cysts. The risk of total and single nabothian cysts linearly decreased with increasing NAD + levels, while the risk of multiple nabothian cysts decreased more rapidly at NAD + levels of 28.0 to 35.0 µmol/L. Conclusion: Low NAD + levels were associated with an increased risk of total and multiple nabothian cysts.
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NAD , Humanos , Femenino , Adulto , Persona de Mediana Edad , NAD/sangre , NAD/metabolismo , Quistes/sangre , Quistes/epidemiología , China/epidemiologíaRESUMEN
Objective: Pyriform fossa (PF) branchial apparatus anomalies (PFBAA) are rare congenital third or fourth branchial apparatus anomalies (TBAA or FBAA). This article summarizes our paradigm in managing this condition by combining endoscopic procedures and open neck surgery. Methods: A retrospective review was undertaken concerning PFBAA cases treated at our tertiary medical institution between July 2020 and November 2023. Data were collected from case records. Three sequential steps were implemented: (1) direct laryngoscopy to identify internal orifice (IO), with injection of methylene blue into it; (2) open neck surgery to resect all inflammatory tissues, focusing on the ligation of the sinus tract out of PF; and (3) plasma coblation of IO mucosa. Results: In total, 7 cases (4 men and 3 women) were included (28-67 years old, median age 53). Presenting symptoms were various, with 6 lesions on the left and 1 on the right side. Preoperative (PO) fiberoptic laryngoscopy identified IO in 6 patients, while PO barium esophageal study identified outflow from PF in 4 patients. A preliminary diagnosis of PFBAA could be established in all cases (2 TBAA and 5 FBAA cases). Direct laryngoscopy after general anesthesia identified IO in all cases (2 on the base of PF and 5 on the apex of PF). All the surgical procedures were successful, with uneventful recovery in all the patients. No postoperative complications were observed. All the patients resumed oral fluid intake after confirmation of no pharyngeal fistula by barium esophageal study on the seventh postoperative day. The duration of follow-up was between 6 and 40 months (with a median duration of 27 months). No recurrence was observed. Conclusion: Open neck surgery, assisted by endoscopic dyeing of sinus tracts and plasma coblation of IO mucosa, is a suitable treatment for PFBAA in adults. This paradigm is effective and safe for senior surgeons.
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Objective: This study explored prophylactic central compartment lymph node dissection (pCCLND) for patients with cN0 papillary thyroid carcinoma (PTC) and the effect of carbon nanoparticles (CNP) on surgical outcomes. Methods: This retrospective study reviewed PTC cases treated at our tertiary medical institution between January 2019 and December 2022. Only patients with indications for total thyroidectomy and cN0 disease were included. CNP has been associated with a higher number of harvested lymph nodes and a lower rate of accidental parathyroid gland (PTG) removal. Patients who used CNP in this study were classified as group 1, while those who denied its use were classified as group 2. Results: In total, 116 cases were included, with 80 patients in group 1 and 36 in group 2. Most patients were in stage T1, with 68 (85.0 %) patients in group 1 and 31 (86.1 %) in group 2. Postoperative hoarseness occurred in 3 (3.8 %) patients in group 1 and 1 (2.8 %) in group 2, which recovered within two months. In group 2, 250 nodes were harvested, 72 (28.8 %) of which were metastatic; in group 1, 889 nodes were harvested, 316 (35.5 %) of which were metastatic; the difference regarding the rates of metastatic lymph nodes between the 2 groups was statistically significant (P = 0.047). Differences in postoperative blood calcium and parathyroid hormone levels between the two groups were statistically significant (P = 0.035 and P = 0.034, respectively). There were symptoms of hypocalcemia in 6 (16.7 %) patients in group 2 but in only 2 (2.5 %) in group 1, all of which recovered within three months; the difference was statistically significant (p = 0.017). Conclusion: pCCLND is worth undertaking for cN0 PTC. CNP is beneficial for achieving more thorough dissection and reducing temporary hypoparathyroidism.
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To reduce the cost of Si-Al aerogels preparation, circulating fluidized bed fly ash (CFA) was developed to be as the alternative to synthetic precursors. High energy consumption of alkali-melting and secondary wastes production were the major challenges. Here, a technique characterized by effective energy consumption and non-secondary waste was developed to convert CFA into Si-Al aerogel. The process consists two stages, preparation of Si-Al sol by sintering of CFA and Na2CO3 followed by sulfuric acid leaching, and synthesis of Si-Al aerogel by so-gel with trimethyl chlorosilane modification and ambient pressure drying. The optimization results of proportion and sintering temperature showed that the optimal temperature of sintering of Na2CO3 and CFA with the mass ratio of 0.7 was 750 °C, 100 °C lower than that of most other waste aluminosilicate materials. CaSO4·0.5H2O which meet building gypsum requirement was obtained by specifying the drying temperature of acid-leached residue at 126 °C for 2 h. The modification procedure was explored to obtain Si-Al aerogel with a large specific surface area of 857 m2/g and hydrophobic angle of 139.3°. Thermal and mechanical properties tests indicated that the Si-Al aerogels and gypsum produced from CFA exhibited promising thermal insulation and the potential application in construction.
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Ceniza del Carbón , Silicio , Ceniza del Carbón/química , Sulfato de Calcio , Aluminio , ResiduosRESUMEN
Objectives: Laimer's diverticulum (LD) is a very rare clinical entity originating between the cricopharyngeus muscle (CPM) and circular muscular fibers of the esophagus. Its diagnosis and management remain to be elucidated. This article summarizes our experience in its diagnosis and open surgical management.Methods: A retrospective review of LD cases treated at our tertiary medical institution was conducted between July 2018 and May 2023. The clinical and demographic data were retrieved from case notes.Results: Three cases were included in this review. There were 2 male patients and 1 female patient. The average and median ages were 47.3 and 54 years, respectively. Presenting symptoms included hoarseness, pharyngeal foreign body sensation, and neck mass. All 3 diverticula were on the left side, with the first 2 cases discovered accidentally on gastric endoscopic or cervical MRI examinations. After evaluating esophageal swallowing with barium sulfate or urografin contrast media, all the patients consented to undergo an open surgical procedure. During surgical exploration, the diverticula were found to be on the posterior part of the cervical esophagus, below CPM, and away from the recurrent laryngeal nerve, and only then, could the diagnosis of LD be established. Then, diverticulectomy and manual suturing of the esophagus was performed. Recovery of all 3 patients was uneventful. Nasogastric tube feeding lasted 7 to 12 days until esophageal examinations demonstrated no leak, and then, oral liquid feeding resumed. The median duration of follow-up was 50 months. No recurrence of symptoms or diverticulum was observed, and the swallowing function of all 3 patients was excellent.Conclusions: An open surgical approach is not only important for the diagnosis of LD, but can also be utilized as a safe and effective treatment.
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OBJECTIVE: Brachial plexus schwannoma (BPS) is a rare clinical entity that poses a significant challenge for head and neck surgeons due to its neuroanatomical complexity and potential severe complications, such as major motor or sensory neurological deficits or pain of the corresponding upper extremity. This article summarizes our experience in its diagnosis and intracapsular enucleation with intraoperative neuromonitoring (INM). METHODS: A retrospective review of BPS cases treated at our tertiary medical institution was conducted between April 2020 and May 2023. The clinical and demographic data were retrieved from case notes. RESULTS: Totally, 3 cases were included. All 3 patients were male, aged 43 to 54 years (median age = 52). The presenting symptom was a palpable supraclavicular mass in all these cases (2 on the left side and 1 on the right side). Neuromonitoring was performed with a 4-channel nerve integrity monitor, with the electrodes placed in the upper arm and forearm muscles, as demonstrated in the literature. After exposing the mass and identifying its origin from the brachial plexus, a unipolar stimulating probe was used to stimulate the tumor surface or the nerves with a 1.0-mA current, and a longitudinal incision into the tumor capsule was made along a carefully mapped line with no INM response. Then the mass was carefully exposed and meticulously dissected from its capsule to achieve an intact enucleation. Immediate postoperative neurological deficit was documented in Case 1 as a mild grasping weakness. The recovery of the other 2 patients was uneventful. The follow-up duration was 7 to 38 months (median = 8 months). The minor motor deficit of Case 1 recovered completely 1 month after surgery. No recurrence of BPS was observed. CONCLUSIONS: Intracapsular enucleation with INM could result in complete removal of BPS and minimal postoperative neurological deficit, whose recovery was quick and satisfactory.
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BACKGROUND: Variants in the MYO7A gene commonly result in Usher syndrome, and in rare cases lead to autosomal dominant non-syndromic deafness (DFNA11). Currently, only nine variants have been reported to be responsible for DFNA11 and their clinical phenotypes are not identical. Here we present a novel variant causing DFNA11 identified in a three-generation Chinese family. CASE SUMMARY: The proband was a 53-year-old Han male who presented with post-lingual bilateral symmetrical moderate sensorineural hearing loss. We learned from the patient's medical history collection that multiple family members also had similar hearing loss, generally occurring around the age of 40. Subsequent investigation by high-throughput sequencing identified a novel MYO7A variant. To provide evidence supporting that this variant is responsible for the hearing loss in the studied family, we performed Sanger sequencing on 11 family members and found that the variant co-segregated with the deafness phenotype. In addition, the clinical manifestation of the 11 affected family members was found to be late-onset bilateral slowly progressive hearing loss, inherited in this family in an autosomal dominant manner. None of the affected family members had visual impairment or vestibular symptoms; therefore, we believe that this novel MYO7A variant is responsible for the rare DFNA11 in this family. CONCLUSION: We report a novel variant leading to DFNA11 which further enriches the collection of MYO7A variants, and our review of the nine previous variants that have been identified to cause DFNA11 provides a reference for clinical genetic counseling.
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The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fever, and developmental delay (SIFD). Muscle involvement has rarely been reported in TRNT1-related disorders. Here we report a Chinese patient with incomplete SIFD and hyperCKemia, and explored the skeletal muscle pathological changes. The patient was a 3-year-old boy with sensorineural hearing loss, sideroblastic anemia, and developmental delay since infancy. At the age of 11 months, significantly increased levels of creatine kinase were noted, accompanied by mild muscle weakness. Whole-exome sequencing revealed compound heterozygous variants of the TRNT1 gene, c.443C > T (p.Ala148Val) and c.692C > G (p.Ala231Gly), in the patient. Western blot showed a decreased expression of TRNT1 and cytochrome c oxidase subunit IV (COX IV) in the skeletal muscle of the patient. Electron microscopy observation of skeletal muscle pathology revealed abnormal mitochondria of various sizes and shapes, supporting a diagnosis of mitochondrial myopathy. The present case indicates that in addition to the classic SIFD phenotype, TRNT1 mutations can cause mitochondrial myopathy, a rare clinical phenotype of TRNT1-related disorders.
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OBJECTIVES: Pharyngocutaneous fistula (PCF) formation following open surgical treatment of hypopharyngeal cancer (HPC) is a common and troublesome complication. To date, the postoperative protocol of restarting oral intake is not clear, and vast discrepancies exist in the literature and among institutions. This study aimed to explore the impact of a postoperative protocol of restarting oral intake on PCF formation after open surgical treatment of primary HPC, and its impact on overall survival (OS) and swallowing function based on the functional outcome swallowing scale (FOSS). MATERIALS AND METHODS: This was a prospective observational study of 42 patients who received open surgical treatment for primary HPC at Beijing Friendship Hospital between April 2019 and August 2021. This cohort included two groups: patients who restarted oral intake on the 10th postoperative day (Group 1), and those who started on the 20th (Group 2). The Chi-square test and Fisher's exact chi-squared test were used for comparing qualitative data among the groups. RESULTS: Group 1 (n = 27) and Group 2 (n = 15) were comparable in clinical characteristics. PCF occurred in 7 (25.9%) patients in Group 1, while none occurred in Group 2 (P = 0.038). The 2-year OS of all 42 patients was 75.6%; 65.8% and 93.3% for Groups 1 and 2, respectively (P = 0.07). The swallowing function was satisfactory (FOSS Grades 0-III) for 19 (70.4%) patients in Group 1 and 15 (100%) patients in Group 2 (P = 0.035). Laryngeal preservation was achieved in 25 (59.5%) patients, while decannulation was successful in 22 (88.0%) patients. CONCLUSIONS: Delayed oral feeding significantly reduces PCF after open surgical treatment of primary HPC, and improves the swallowing function outcome without jeopardizing the OS.
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OBJECTIVE: To identify novel epigenetic signatures that could provide predictive information that is complementary to promoter methylation status of the O-6-methylguanine-DNA methyltransferase (MGMT) gene for predicting temozolomide (TMZ) response, among glioblastomas (GBMs) without glioma-CpGs island methylator phenotype (G-CIMP) METHODS: Different cohorts of primary non-G-CIMP GBMs with genome-wide DNA methylation microarray data were included for discovery and validation of a multimarker signature, combined using a RISK score model. Different statistical analyses and functional experiments were performed for clinical and biological validation. RESULTS: By employing discovery cohorts with radiotherapy (RT) and TMZ versus RT alone and a strict multistep selection strategy, we identified seven CpGs, each of which was significantly correlated with overall survival (OS) of non-G-CIMP GBMs with RT/TMZ, independent of age, MGMT promoter methylation status, and other identified CpGs. A RISK score signature of the 7 CpGs was developed and validated to distinguish non-G-CIMP GBMs with differential survival outcomes to RT/TMZ, but not to RT alone. The interaction analyses also showed differential outcomes to RT/TMZ versus RT alone within the RISK score-based subgroups. The signature could also improve the risk classification by age and MGMT promoter methylation status. Functional experiments showed that HSBP2 appeared to be epigenetically regulated by one identified CpG and was associated with TMZ resistance, but it was not associated with cell proliferation or apoptosis in GBM cell lines. The predictive value of the single CpG methylation of HSBP2 by pyrosequencing was observed in a local cohort of isocitrate dehydrogenase 1 (IDH1) R132H wild-type GBMs. CONCLUSIONS: This novel epigenetic signature might be a promising predictive (but not a general prognostic) biomarker and be helpful for refining the MGMT-based guiding approach to TMZ usage in non-G-CIMP GBMs.
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Antineoplásicos Alquilantes/uso terapéutico , Neoplasias Encefálicas/tratamiento farmacológico , Resistencia a Antineoplásicos , Glioblastoma/tratamiento farmacológico , Proteínas de Choque Térmico HSP27/genética , Temozolomida/uso terapéutico , Antineoplásicos Alquilantes/farmacología , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/radioterapia , Línea Celular Tumoral , Proliferación Celular/efectos de los fármacos , Proliferación Celular/efectos de la radiación , Supervivencia Celular/efectos de los fármacos , Supervivencia Celular/efectos de la radiación , Islas de CpG/efectos de los fármacos , Islas de CpG/efectos de la radiación , Metilación de ADN/efectos de los fármacos , Metilación de ADN/efectos de la radiación , Metilasas de Modificación del ADN/genética , Enzimas Reparadoras del ADN/genética , Epigénesis Genética/efectos de los fármacos , Epigénesis Genética/efectos de la radiación , Femenino , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Regulación Neoplásica de la Expresión Génica/efectos de la radiación , Glioblastoma/genética , Glioblastoma/radioterapia , Humanos , Isocitrato Deshidrogenasa/genética , Masculino , Análisis de Supervivencia , Temozolomida/farmacología , Resultado del Tratamiento , Proteínas Supresoras de Tumor/genéticaRESUMEN
AIMS: We aimed to identify a clinically useful biomarker using DNA methylation-based information to optimize individual treatment of patients with glioblastoma (GBM). METHODS: A six-CpG panel was identified by incorporating genome-wide DNA methylation data and clinical information of three distinct discovery sets and was combined using a risk-score model. Different validation sets of GBMs and lower-grade gliomas and different statistical methods were implemented for prognostic evaluation. An integrative analysis of multidimensional TCGA data was performed to molecularly characterize different risk tumors. RESULTS: The six-CpG risk-score signature robustly predicted overall survival (OS) in all discovery and validation cohorts and in a treatment-independent manner. It also predicted progression-free survival (PFS) in available patients. The multimarker epigenetic signature was demonstrated as an independent prognosticator and had better performance than known molecular indicators such as glioma-CpG island methylator phenotype (G-CIMP) and proneural subtype. The defined risk subgroups were molecularly distinct; high-risk tumors were biologically more aggressive with concordant activation of proangiogenic signaling at multimolecular levels. Accordingly, we observed better OS benefits of bevacizumab-contained therapy to high-risk patients in independent sets, supporting its implication in guiding usage of antiangiogenic therapy. Finally, the six-CpG signature refined the risk classification based on G-CIMP and MGMT methylation status. CONCLUSIONS: The novel six-CpG signature is a robust and independent prognostic indicator for GBMs and is of promising value to improve personalized management.
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Neoplasias Encefálicas/genética , Islas de CpG , Metilación de ADN , Glioblastoma/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Encéfalo/metabolismo , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/mortalidad , Femenino , Estudios de Seguimiento , Predisposición Genética a la Enfermedad , Glioblastoma/metabolismo , Glioblastoma/mortalidad , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Adulto JovenRESUMEN
The Bcl-2 antiapoptotic proteins are important cancer therapy targets; however, their role in cancer cell metabolism remains unclear. We found that the BH3-only protein mimetic S1, a novel pan Bcl-2 inhibitor, simultaneously interrupted glucose metabolism and induced apoptosis in human SKOV3 ovarian cancer cells, which was related to the activation of SIRT3, a stress-responsive deacetylase. S1 interrupted the cellular glucose metabolism mainly through causing damage to mitochondrial respiration and inhibiting glycolysis. Moreover, S1 upregulated the gene and protein expression of SIRT3, and induced the translocation of SIRT3 from the nucleus to mitochondria. SIRT3 silencing reversed the effects of S1 on glucose metabolism and apoptosis through increasing the level of HK-II localized to the mitochondria, while a combination of the glycolysis inhibitor 2-DG and S1 intensified the cytotoxicity through further upregulation of SIRT3 expression. This study underscores an essential role of SIRT3 in the antitumor effect of Bcl-2 inhibitors in human ovarian cancer through regulating both metabolism and apoptosis. The manipulation of Bcl-2 inhibitors combined with the use of classic glycolysis inhibitors may be rational strategies to improve ovarian cancer therapy.
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Neoplasias Ováricas/tratamiento farmacológico , Fragmentos de Péptidos/administración & dosificación , Proteínas Proto-Oncogénicas c-bcl-2/biosíntesis , Proteínas Proto-Oncogénicas/administración & dosificación , Sirtuina 3/biosíntesis , Apoptosis/efectos de los fármacos , Biomimética , Línea Celular Tumoral , Femenino , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Glucosa/metabolismo , Humanos , Mitocondrias/efectos de los fármacos , Neoplasias Ováricas/genética , Neoplasias Ováricas/metabolismo , Neoplasias Ováricas/patología , Proteínas Proto-Oncogénicas c-bcl-2/antagonistas & inhibidores , ARN Interferente Pequeño/genética , Sirtuina 3/antagonistas & inhibidoresRESUMEN
Malignant hyperthermia increases mortality and disability in patients with brain trauma. A clinical treatment for malignant hyperthermia following severe traumatic brain injury, termed 'cool and quiet' therapy by the authors of the current study, was investigated. Between June 2003 and June 2013, 110 consecutive patients with malignant hyperthermia following severe traumatic brain injury were treated using mild hypothermia (35-36°C) associated with small doses of sedative and muscle relaxant. Physiological parameters and intracranial pressure were monitored, and the patients slowly rewarmed following the maintenance of mild hypothermia for 3-12 days. Consecutive patients who had undergone normothermia therapy were retrospectively analyzed as the control. In the mild hypothermia group, the recovery rate was 54.5%, the mortality rate was 22.7%, and the severe and mild disability rates were 11.8 and 10.9%, respectively. The mortality rate of the patients, particularly that of patients with a Glasgow Coma Scale (GCS) score of between 3 and 5 differed significantly between the hypothermia group and the normothermia group (P<0.05). The mortality of patients with a GCS score of between 6 and 8 was not significantly different between the two groups (P> 0.05). The therapy using mild hypothermia with a combination of sedative and muscle relaxant was beneficial in decreasing the mortality of patients with malignant hyperthermia following severe traumatic brain injury, particularly in patients with a GCS score within the range 3-5 on admission. The therapy was found to be safe, effective and convenient. However, rigorous clinical trials are required to provide evidence of the effectiveness of 'cool and quiet' therapy for hyperthermia.
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OBJECTIVE: To investigate the fourth branchial abnormity and its managements. METHOD: Twelve cases of the fourth branchial abnormity treated between January 2005 and April 2012 were reviewed. RESULTS: Dissection of the recurrent laryngeal nerve was done in all cases. Partial thyroidectomy was performed in 10 cases, and 2 cases of them received selective neck dissection including level II, III, IV and VI. The abnormity lesions were found to pass posterior to the thyroid glands in the 10 cases and to pass through the inferior constrictor muscle into the pyriform sinus in 7 cases of them. The internal opening in the pyriform sinus demonstrated by preoperative examination couldn't be identified in the operation in one case. The abnormity tract terminated at the lateral surface of the esophagus in one case, passed into the cervical esophagus in one case, and terminated at the lateral surface of the thyroid gland in one case, and formed a cyst lateral to the thyroid gland in one case. No abnormity tract was found to loop around the hypoglossal nerve and to descend into the mediastinum. The left recurrent laryngeal nerve was cut off in one patient, although end to end anastomosis was performed immediately, the patient was still complicated with left vocal cord paralysis postoperatively. The median follow-up time of the cases was 24 months (8-88 months). One case was lost of follow up. No recurrence was found in 10 cases. Recurrence was found in one case, and no recurrence in 10 cases. CONCLUSIONS: The presentation of congenital the fourth branchial fistula is variated significantly. Most abnormity lesions had close relations to the thyroid gland and the recurrent laryngeal nerve, thus the recurrent laryngeal nerve need to protect and partial thyroidectomy might be considered. In the recurrent cases when the abnormity couldn't be identified clearly, selective neck dissection including level II, III, IV and VI should be done long term follow up should be carried out in the cases that the internal opening couldn't be found.
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Región Branquial/anomalías , Branquioma , Fístula , Neoplasias de Cabeza y Cuello , Humanos , Cuello , Disección del Cuello , Nervio Laríngeo Recurrente , Glándula Tiroides , Tiroidectomía , Parálisis de los Pliegues VocalesRESUMEN
OBJECTIVE: To summarize the clinical audiologic features of patients with mitochondrial DNA (mtDNA) A3243G mutation and explore the lesion location of hearing loss so as to examine its correlation with the related syndrome. METHODS: A total of 44 patients with mtDNA A3243G mutation from 2009-2011 were studied. Audiological evaluations consisted of measurements of pure-tone and speech audiometry, tympanometry, distortion-product otoacoustic emissions and auditory brainstem response. We investigated a possible correlation between the degree of hearing loss and gender, age and mutation rate. RESULTS: (1) Pure tone test was performed in 41 patients and showed normal hearing or symmetrical sensorineural hearing loss. Pure tone audiogram (PTA) showed high-frequency loss and descending curve in a majority of patients. There were 75 ears with hearing loss in 82 ears (91.46%), 22 ears with abnormal speech audiometry in 26 ears, 77 ears with abnormal distortion product otoacoustic emissions (DPOAE)testing in 86 ears, including 5 ears with normal PTA, 31 ears with abnormal electrocochleography in 75 ears, 25 ears with abnormal auditory brainstem response (ABR) in 82 ears. The abnormal ABR showed elevated threshold in 10 ears, delayed interpeak latencies of wave I-V in 2 ears and disappearance of wave V before wave I in 1 ear. In addition, there were 2 ears with speech audiometry abnormal but with normal ABR. (2) The correlation between the severity of hearing and gender did not reach statistical significance, nor the severity of hearing and mutation ratio. Age could influence the hearing of A3243G-induced MELAS. CONCLUSIONS: The predominant lesions of mtDNA A3243G is at cochlea and retrocochlear sites. Significant variations in clinical manifestation of hearing are the prominent features in patient with A3243G mutation. There was no correlation between the degree of hearing loss and mutation load. However, hearing impairment is the most common symptom of A3243G mutation.
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ADN Mitocondrial/genética , Pérdida Auditiva Sensorineural/genética , Tasa de Mutación , Adolescente , Adulto , Niño , Femenino , Pérdida Auditiva Sensorineural/diagnóstico , Pruebas Auditivas , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
OBJECTIVE: To compare the postoperative hemorrhage between standard uvulopalatopharyngoplasty (UPPP) and coblation assisted UPPP, and to evaluate the related risk factors and preventive measures. METHODS: Five hundreds and ninety seven patients with obstructive sleep apnea hypopnea syndrome (OSAHS) underwent UPPP and coblation assisted UPPP between January 1, 1999, and September 30, 2009 were reviewed retrospectively. Two hundred and sixty three patients with coblation assisted UPPP and 334 patients with standard UPPP were treated respectively. Single factor statistic analysis, multiple factors Logistic regress statistic analysis and Wilcoxon test method for related risk factors were applied. RESULTS: A total of 42 patients (7.0%) experienced postoperative bleeding. Among them, 24 patients with coblation assisted UPPP (9.1%) and 18 patients with UPPP (5.4%) had postoperative hemorrhage. Significant difference was not found in the degree of hemorrhage (z = 0.784, P > 0.05), hemorrhage site(χ(2) = 1.387, P > 0.05) and postoperative hemorrhage rates (χ(2) = 3.14, P > 0.05) between the two surgical techniques. Significant difference was found in the interval of hemorrhage after surgery between the two surgical techniques (χ(2) = 9.25, P < 0.01). History of hypertension, smoking, hepatic dysfunction was found to be correlated with the postoperative hemorrhage (Odd-ratio were respectively 7.326, 3.674, 2.707). CONCLUSION: Coblation technique did not significantly increase UPPP postoperative hemorrhage.