BACKGROUND The auditory brainstem implant(ABI)is a significant treatment to restore hearing sensations for neurofibromatosis type 2(NF2)patients.However,there is no ideal method in assisting the placement of ABIs.In t...BACKGROUND The auditory brainstem implant(ABI)is a significant treatment to restore hearing sensations for neurofibromatosis type 2(NF2)patients.However,there is no ideal method in assisting the placement of ABIs.In this case series,intraoperative cochlear nucleus mapping was performed in awake craniotomy to help guide the placement of the electrode array.CASE SUMMARY We applied the asleep-awake-asleep technique for awake craniotomy and hearing test via the retrosigmoid approach for acoustic neuroma resections and ABIs,using mechanical ventilation with a laryngeal mask during the asleep phases,utilizing a ropivacaine-based regional anesthesia,and sevoflurane combined with propofol/remifentanil as the sedative/analgesic agents in four NF2 patients.ABI electrode arrays were placed in the awake phase with successful intraoperative hearing tests in three patients.There was one uncooperative patient whose awake hearing test needed to be aborted.In all cases,tumor resection and ABI were performed safely.Satisfactory electrode effectiveness was achieved in awake ABI placement.CONCLUSION This case series suggests that awake craniotomy with an intraoperative hearing test for ABI placement is safe and well tolerated.Awake craniotomy is beneficial for improving the accuracy of ABI electrode placement and meanwhile reduces non-auditory side effects.展开更多
AIM: To investigate neurofibromatosis type 2(NF2) gene mutation at mRNA levels in sporadic orbitocranial meningioma and its association with progesterone receptor(PR) mR NA expression.METHODS: This was a case-control ...AIM: To investigate neurofibromatosis type 2(NF2) gene mutation at mRNA levels in sporadic orbitocranial meningioma and its association with progesterone receptor(PR) mR NA expression.METHODS: This was a case-control study. Thirty-four sporadic meningioma patients with no familial NF2-related meningioma history were recruited. They were interviewed for their obstetric, gynecologic, and contraception history. PR investigation was performed with real-time polymerase chain reaction(PCR). NF2 mutation was investigated using Qbiomarker Somatic Mutation PCR Assay at NF2 mRNA level after its cDNA extraction(four mRNA mutation cytoband coordinates for nucleotide change: c.634 C>T/p.Q212, c.655 G>A/p.V219 M, c.784 C>T/p.R262 and c.1228 C>T/p. Q410). RESULTS: After mutation analysis at mRNA level, NF2 gene mutation was found in 35.29% patients. Non-mutation group was strongly associated with exogenous hormonal exposure(non-mutation vs mutation: 95.5% vs 83.3%, P<0.001). PR mR NA was found significantly lower in nonmutation group(P=0.033) which presumed as long term exogenous progesterone exposure. However, mutation group was associated with higher rate of progression to gradeⅡ(mutation vs non-mutation, 18.2% vs 5%, P<0.001) and was associated more in fibrous and anaplastic tumor tissue.CONCLUSION: NF2 mutation-meningioma is associated with higher grade of meningioma. Non NF2 mutationmeningioma is strongly associated with exogenous progesterone exposure and lower PR expression.展开更多
Introduction: Low bodyweight type 2 DM is a distinct clinical entity having many inherent peculiarities seen in India and developing countries, constituting 11% to 25% of type 2 diabetic subjects. Our study aimed at a...Introduction: Low bodyweight type 2 DM is a distinct clinical entity having many inherent peculiarities seen in India and developing countries, constituting 11% to 25% of type 2 diabetic subjects. Our study aimed at assessing the prevalence of inflammatory markers like hsCRP, adiponectin and NF-κB expression in peripheral blood mononuclear cells in subjects with type 2 DM in relation to BMI. Materials and Methods: 57 consecutive type 2 diabetics were recruited for study, classified as Low Bodyweight (A = BMI < 18.5), Standard weight (B = BMI 18.5 - 24.99) and Obese (C = BMI ≥ 25). Group D comprised 14 healthy controls. They were evaluated for clinical parameters, FBG, 2hrPPBG, HbA1c, lipid profile and above mentioned inflammatory markers. Results: Serum hsCRP was significantly higher in all group of diabetics as compared to Group D but was lowest in Group A. Adiponectin levels were highest in Group D, similar in Groups B and C but lowest in Group A. NF-κB expression, though higher in diabetic subjects than controls (OD = 0.041 ± 0.006), was least in Group A (OD = 0.045 ± 0.005). Discussion and Conclusion: Our study revealed that Indians with type 2DM are in a pro-inflamematory state. Low bodyweight type 2 diabetics had the least pro-inflammatory load. This further supported the earlier observation of lesser macrovascular disease load and testifying that Low Bodyweight type2DM constitutes a distinct entity.展开更多
目的:回顾2型神经纤维瘤病(neurofibromatosis type 2,NF2)患者的眼部表现,分析NF2眼部病变的临床和影像学特征,以助该病的早期诊断。方法:收集来自深圳市眼科医院的1例和来自中山眼科中心的3例NF2患者完整的临床资料并进行总结分析。结...目的:回顾2型神经纤维瘤病(neurofibromatosis type 2,NF2)患者的眼部表现,分析NF2眼部病变的临床和影像学特征,以助该病的早期诊断。方法:收集来自深圳市眼科医院的1例和来自中山眼科中心的3例NF2患者完整的临床资料并进行总结分析。结果:这4例患者均因眼部异常首诊于眼科且符合曼彻斯特诊断标准。4例患者中,3例为NF2早发型(<20岁),1例为晚发型(>20岁),男女比例1:1。3例患者因视力下降、1例患者因复视首诊于眼科。3例行眼底光学相干断层成像(optical coherence tomography,OCT)检查显示,视网膜错构瘤2例,视网膜前膜2例,视盘隆起2例,视网膜神经纤维层和节细胞层变薄1例。其他表现包括麻痹性斜视2例,复视1例,白内障1例,球后段视神经增粗1例,眼眶肿瘤1例。结论:NF2的眼部表现多种多样,可出现在神经症状和听力损失之前。详细的眼科检查及影像学检查对年轻患者的早期诊断非常有价值,有助于选择更好的治疗计划。展开更多
基金Beijing Municipal Administration of Hospitals Ascent Plan,No.DFL20180502.
文摘BACKGROUND The auditory brainstem implant(ABI)is a significant treatment to restore hearing sensations for neurofibromatosis type 2(NF2)patients.However,there is no ideal method in assisting the placement of ABIs.In this case series,intraoperative cochlear nucleus mapping was performed in awake craniotomy to help guide the placement of the electrode array.CASE SUMMARY We applied the asleep-awake-asleep technique for awake craniotomy and hearing test via the retrosigmoid approach for acoustic neuroma resections and ABIs,using mechanical ventilation with a laryngeal mask during the asleep phases,utilizing a ropivacaine-based regional anesthesia,and sevoflurane combined with propofol/remifentanil as the sedative/analgesic agents in four NF2 patients.ABI electrode arrays were placed in the awake phase with successful intraoperative hearing tests in three patients.There was one uncooperative patient whose awake hearing test needed to be aborted.In all cases,tumor resection and ABI were performed safely.Satisfactory electrode effectiveness was achieved in awake ABI placement.CONCLUSION This case series suggests that awake craniotomy with an intraoperative hearing test for ABI placement is safe and well tolerated.Awake craniotomy is beneficial for improving the accuracy of ABI electrode placement and meanwhile reduces non-auditory side effects.
文摘AIM: To investigate neurofibromatosis type 2(NF2) gene mutation at mRNA levels in sporadic orbitocranial meningioma and its association with progesterone receptor(PR) mR NA expression.METHODS: This was a case-control study. Thirty-four sporadic meningioma patients with no familial NF2-related meningioma history were recruited. They were interviewed for their obstetric, gynecologic, and contraception history. PR investigation was performed with real-time polymerase chain reaction(PCR). NF2 mutation was investigated using Qbiomarker Somatic Mutation PCR Assay at NF2 mRNA level after its cDNA extraction(four mRNA mutation cytoband coordinates for nucleotide change: c.634 C>T/p.Q212, c.655 G>A/p.V219 M, c.784 C>T/p.R262 and c.1228 C>T/p. Q410). RESULTS: After mutation analysis at mRNA level, NF2 gene mutation was found in 35.29% patients. Non-mutation group was strongly associated with exogenous hormonal exposure(non-mutation vs mutation: 95.5% vs 83.3%, P<0.001). PR mR NA was found significantly lower in nonmutation group(P=0.033) which presumed as long term exogenous progesterone exposure. However, mutation group was associated with higher rate of progression to gradeⅡ(mutation vs non-mutation, 18.2% vs 5%, P<0.001) and was associated more in fibrous and anaplastic tumor tissue.CONCLUSION: NF2 mutation-meningioma is associated with higher grade of meningioma. Non NF2 mutationmeningioma is strongly associated with exogenous progesterone exposure and lower PR expression.
文摘Introduction: Low bodyweight type 2 DM is a distinct clinical entity having many inherent peculiarities seen in India and developing countries, constituting 11% to 25% of type 2 diabetic subjects. Our study aimed at assessing the prevalence of inflammatory markers like hsCRP, adiponectin and NF-κB expression in peripheral blood mononuclear cells in subjects with type 2 DM in relation to BMI. Materials and Methods: 57 consecutive type 2 diabetics were recruited for study, classified as Low Bodyweight (A = BMI < 18.5), Standard weight (B = BMI 18.5 - 24.99) and Obese (C = BMI ≥ 25). Group D comprised 14 healthy controls. They were evaluated for clinical parameters, FBG, 2hrPPBG, HbA1c, lipid profile and above mentioned inflammatory markers. Results: Serum hsCRP was significantly higher in all group of diabetics as compared to Group D but was lowest in Group A. Adiponectin levels were highest in Group D, similar in Groups B and C but lowest in Group A. NF-κB expression, though higher in diabetic subjects than controls (OD = 0.041 ± 0.006), was least in Group A (OD = 0.045 ± 0.005). Discussion and Conclusion: Our study revealed that Indians with type 2DM are in a pro-inflamematory state. Low bodyweight type 2 diabetics had the least pro-inflammatory load. This further supported the earlier observation of lesser macrovascular disease load and testifying that Low Bodyweight type2DM constitutes a distinct entity.
文摘目的:回顾2型神经纤维瘤病(neurofibromatosis type 2,NF2)患者的眼部表现,分析NF2眼部病变的临床和影像学特征,以助该病的早期诊断。方法:收集来自深圳市眼科医院的1例和来自中山眼科中心的3例NF2患者完整的临床资料并进行总结分析。结果:这4例患者均因眼部异常首诊于眼科且符合曼彻斯特诊断标准。4例患者中,3例为NF2早发型(<20岁),1例为晚发型(>20岁),男女比例1:1。3例患者因视力下降、1例患者因复视首诊于眼科。3例行眼底光学相干断层成像(optical coherence tomography,OCT)检查显示,视网膜错构瘤2例,视网膜前膜2例,视盘隆起2例,视网膜神经纤维层和节细胞层变薄1例。其他表现包括麻痹性斜视2例,复视1例,白内障1例,球后段视神经增粗1例,眼眶肿瘤1例。结论:NF2的眼部表现多种多样,可出现在神经症状和听力损失之前。详细的眼科检查及影像学检查对年轻患者的早期诊断非常有价值,有助于选择更好的治疗计划。
