Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoacoustic emissions

We recorded cochlear potentials by transtympanic electrocochleography (ECochG) in three hearing-impaired children with GJB2 mutation who showed otoacoustic emissions. Pure tone thresholds, distortion product otoacoustic emissions (DPOAEs) and, auditory brainstem responses (ABRs) were also obtained. Subjects 1 (35delG/35delG) and 3 (M34T/wt) had profound hearing loss and showed the picture of auditory neuropathy (AN) as DPOAEs were detected with absent ABRs in both ears. The hearing impairment found in subject 2 (35delG/35delG) was profound in the right ear and moderate in the left ear. Both DPOAEs and ABRs with normal latencies and morphology were recorded only from the left ear. On the ECochG recording the cochlear microphonic was obtained from all children. No compound action potential (CAP) was detected in subject 1. A neural response was recorded only from the left ear in subject 2 with a threshold corresponding to the audiometric threshold while no CAP was detected on the right side. The ECochG obtained from subject 3 showed a low-amplitude broad negative deflection which was identifiable down to low stimulus levels. This response decreased in amplitude and duration when utilizing a high-rate stimulation paradigm. The amount of amplitude reduction was close to that calculated for normal ears, thus revealing the presence of an adapting neural component. These findings indicate that patients with GJB2 mutations and preserved outer hair cells function could present with the picture of AN. The hearing impairment is underlain by a selective inner hair cell loss or a lesion involving the synapses and/or the auditory nerve terminals. We suggest that neonatal hyperbilirubinemia may play a role in protecting outer hair cells against the damage induced by GJB2 mutations.     

以血浆作透析液的血液透析联合高容量血液滤过清除胆红素和细胞因子的机制研究

目的探讨以人体新鲜冷冻血浆作透析液的血液透析(HD-PBD)后继续进行高容量血液滤过(HVHF)的血液净化方法对肝功能衰竭患者血清胆红素和血浆细胞因子的清除效果。方法15例肝功能衰竭患者行HD-PBD治疗6h后,应用同一滤器(AV600)继续行HVHF治疗24h(观察组)。另选取6例行HVHF治疗24h的高胆红素血症患者作为对照组。观察组在HD-PBD治疗初始(0h)及开始后2h、4h和6h取滤器动脉端和静脉端血液、流入端和流出端透析液,两组患者在HVHF治疗0h、6h、12h和24h取滤器前及滤器后血液,同时留取滤液。测定血清胆红素、TNF-α、IL-1β、IL-6和IL-8水平的下降率、溶质清除率(Kd)、筛选系数(SC)和吸附系数(AC)。结果(1)HD-PBD对胆红素的清除较HVHF明显(P<0.05)。(2)HD-PBD和HVHF对血浆TNF-α、IL-6和IL-8均有良好的清除作用,对照组HVHF对细胞因子的清除较观察组HD-PBD和HVHF明显(P<0.05)。(3)仅胆红素可以被透析,HD-PBD治疗初始血清总胆红素(TB)的Kd为(23.0±3.4)ml/min,滤器使用4～6h后弥散作用下降(P<0.05)。(4)在超滤液中TB与IL-1β、IL-6和IL-8的SC均值间差别有显著性意义(P<0.01)。(5)4种细胞因子均能被滤器吸附,滤器使用12h后AC显著降低(P<0.05)。结论(1)HD-PBD清除胆红素的机制主要为弥散和吸附作用。HVHF清除胆红素的机制为对流和吸附,但清除效果低于HD-PBD。(2)HD-PBD和HVHF清除细胞因子的机制主要为吸附作用,其能力在治疗12h后降低。     

有机阴离子转运因子2的多态性与某省新生儿重症高胆红素血症的相关性研究

目的探讨有机阴离子转运因子2(OATP2)的A388G及T521C基因多态性与云南省新生儿高胆红素血症的相关性。方法 180例新生儿重症高胆红素血症作为病例组,80例无黄疸新生儿作为对照组。采用常规方法提取DNA,用聚合酶链反应(PCR)方法扩增,琼脂糖凝胶电泳鉴定产物,PCR产物进行DNA测序。结果病例组与对照组A388G等位基因突变率分别为25%及23%,病例组A388G基因频率与对照组间差异无统计学意义(χ2=1.056,P>0.05);病例组与对照组T521C基因等位基因突变率分别为9%及3%,病例组T521C基因频率显著高于对照组,差异有统计学意义(χ2=5.590,P<0.05)。结论云南省重症新生儿高胆红素血症的发生与有机阴离子转运因子2的A388G基因突变无关,而与T521C基因的多态性密切相关。     

Liver failure caused by prolonged state of malnutrition following bariatric surgery

Bariatric surgery is an effective tool in the treatment of patients with morbid obesity. In these case reports we describe 2 patients who developed liver failure after currently-practiced types of bariatric surgery, caused by a prolonged state of malnutrition provoked by psychiatric problems. Despite intensive guidance of a psychologist and dieticians after surgery, our patients deteriorated psychologically, resulting in a prolonged state of severe malnutrition and anorexia. Finally, a state of starvation was reached, passing a critical level of the liver capacity. Patients who present with signs of severe protein malnutrition after bariatric surgery should be closely monitored and checked for nutritional status. Specific attention should be given to patients who develop psychiatric problems post-bariatric surgery. If refeeding does not result in clinical improvement, reversal surgery should be considered in a timely manner.     

白蛋白置换治疗难治性肝炎高胆红素血病的研究

目的探讨白蛋白置换治疗难治性肝炎高胆红素血症的疗效和作用机理。方法84例病人随机分成治疗组53例,对照组31例。基本治疗给予强力宁;对照组在基本治疗基础上给予复方丹参(或茵栀黄)。治疗组在基本治疗基础上采用血液成分分离机,分离和去除部分含有胆红素等有害物质的血浆,回输血液有形成分,平均每次置换300～400ml血浆,同时补充30g白蛋白;每周置换2次,4次为一疗程。结果治疗组总有效率为86.8％,高于对照组的67.7％(P<0.05),其中显效率(43.4％)明显优于对照组(19.4％)(P<0.05);急性肝炎治疗组的总有效率(96.7％)高于对照组(78.6％)(P<0.05),显效率(63.3％)明显高于对照组(28.6％)(P<0.05)。在急、慢性肝炎治疗有效的病人中,治疗组每日SB下降均值[分别为(8.44±7.22)和(4.94±2.59)μmol/L]幅度明显较对照组[分别为(3.04±1.67)和(1.69±0.72)μmol/L]增高(分别为P<0.05和P<0.005);住院天数[分别为(54±30)和(65±24)d]则显著少于对照组[分别为(79±14)和(89±21)d](P<0.05)。部分急、慢性肝炎病人治疗后CD4/CD8值明显上升(P<0.05和P<0.01),IL-2上升(P<0.05),sIL-2R下降(P<0.05和P<0.01);急性肝炎病人内毒素含量减少(P<0.005);慢性肝炎病人氨基酸图谱改变,异亮氨酸值明显增高(P<0.01),BCAA/AAA比值明显上升(P<0.01)。随访部分治疗组病人治疗后6个月SB复常率为88.5％,优于对照组的50％(P<0.05)。结论白蛋白置换治疗难治性肝炎高胆红素血症具有良好的效果,无明显不良反应。     

高胆红素血症新生儿联合检测血清心肌酶谱与肌钙蛋白的临床意义

目的：探讨心肌酶谱的谷草转氨酶(AST)、肌酸激酶(CK)、肌酸激酶同工酶(CKMB)、乳酸脱氢酶（LDH）与肌钙蛋白I (cTnI)联合检测对高胆红素血症新生儿(HBN)的临床意义。方法选取2012年5月至2014年6月在我院接受治疗的68例HBN患儿为观察组,根据HBN分型标准将其分为轻度HBN组22例、重度HBN组24例和早产并重度HBN组22例。选择同期非HBN的健康体检者68例作为对照组。利用电化学发光免疫法检测并比较观察组和对照组患儿AST、CK、CKMB、LDH和cTnI水平。结果观察组患儿AST、CK、CKMB、LDH和cTnI水平明显高于对照组,且差异均具有统计学意义(P<0.05);早产并重度HBN组的AST、CK、CKMB、LDH和cTnI水平明显高于轻度和重度组,差异具有统计学意义(P<0.05)。结论心肌酶谱和cTnI水平与HBN发生和发展有一定关系,联合检测心肌酶谱和cTnI对HBN筛选和诊断具有重要参考价值,但其特异性和灵敏性尚待进一步验证。     

Diagnostic markers in acute appendicitis

Background

An adequate medical history combined with clinical examination is usually enough to make the diagnosis of acute appendicitis. The aim of this study was to determine the value of elevated white cell count (WCC), C-reactive protein (CRP), and bilirubin as diagnostic markers of acute appendicitis.

Methods

A retrospective analysis was carried out on consecutive patients who underwent appendicectomy over a 3-year period. All data including patients' age, sex, blood test results, and appendix histology were summarized. Sensitivities, specificities, positive, and negative predictive values of WCC, CRP, and bilirubin were calculated separately or in combination for all patients.

Results

A total of 447 patients were included. There is a significant difference in the results between patients with negative and positive appendicitis with regards to CRP (32 vs 73; P < .001), mean total WCC (10.9 vs 14.0; P < .001), and the mean levels of bilirubin (10.9 vs 17.2; P < .001).

Conclusions

The diagnosis of appendicitis remains multifactorial and blood tests may help to guide the surgeon in the decision making.     

76例高胆红素血症新生儿的血糖检测分析

目的：探讨新生儿高胆红素血症对其血糖检测的影响。方法：选取本院2013年1月-2014年6月收治的76例高胆红素血症患儿作为观察组,并选取76例健康新生儿作为对照组,于早上6点空腹抽取患儿的静脉血液样本,分离血清后分别采用GOD-POD法和HK法进行血糖检测。比较两组样本去胆红素前后血糖测定结果并作回顾性分析。结果：观察组在去除胆红素前采用GOD-POD法测定血糖水平为（2.44±1.29）mmol/L,去除胆红素后血糖水平为（3.53±1.63）mmol/L,比较差异具有统计学意义（P〈0.05）;观察组在去除胆红素前采用HK法测定血糖水平为（3.59±1.55）mmol/L,在去除胆红素后血糖水平为（3.61±1.58）mmol/L,比较差异无统计学意义;对照组采用两种方法测定血糖浓度差异均无统计学意义。结论：HK法检测高胆红素血症患儿的血糖具有较高的特异性,检测结果准确性高于GOD-POD法,有助于及时诊治患儿的低血糖等并发症,改善患儿的生活质量,值得在临床上进一步推广。     

Association between umbilical cord clamping time,hemoglobin and total serum bilirubin in term neonates admitted for phototherapy

BackgroundThe aim of the study was to investigate relationship between cord clamping status, total hemoglobin (THb) and total bilirubin (TBil) in term infants requiring phototherapy for neonatal jaundice.MethodsThis retrospective study included term infants admitted at the study hospital for management of physiological neonatal jaundice between 2013 and 2019. Associations between THb, TBil, cord clamping status and Direct Coombs Test (DCT) status, as well as correlation between laboratory and blood gas analyzer (BGA) methods were investigated.Results258 term infants were included. 147 infants had cord clamping status documented; 111 had unknown cord clamping status. Delayed cord clamping (DCC) was associated with significantly higher mean THb in DCT negative infants only. Negative DCT was associated with higher THb and TBil regardless of cord clamping status. Mean TBil concentration did not change with increasing THb or cord clamping status. The incidence of term infants admitted for phototherapy increased over the study period. There was strong positive correlation between BGA and laboratory assays.ConclusionsDCC was associated with a higher THb in DCT negative infants only. There was no correlation between THb and TBil. There was strong positive correlation of TBil between BGA and laboratory assays thus supporting BGA use in ambulatory care settings.     

Impaired function of the auditory brainstem in term neonates with hyperbilirubinemia

Objective: We studied maximum length sequence brainstem auditory evoked response in term neonates with hyperbilirubinemia to further our understanding of hyperbilirubinemia on the neonatal auditory brainstem and to determine if maximum length sequence technique improves detection of brainstem auditory impairment due to bilirubin neurotoxicity. Methods: Maximum length sequence brainstem auditory evoked response was recorded and analysed shortly after confirming total serum bilirubin levels greater than 15 mg/dL in fifty-seven term neonates with hyperbilirubinemia. Results: Most wave latencies and interpeak intervals in maximum length sequence brainstem auditory evoked response in the neonates with hyperbilirubinemia were correlated with the level of total serum bilirubin at some or most click rates used. Compared with age-matched normal term controls, wave V latency in these neonates was increased significantly at all 91–910/s click rates (p < 0.05–0.001). The I–V and I–III interpeak intervals were also increased significantly at all these rates, and the III–V interval increased at 227–910/s clicks (p < 0.05–0.001). The differences between the neonates with hyperbilirubinemia and the controls were more significant at higher than at lower click rates. The slopes of wave V latency-rate function and I–V and III–V interval-rate functions were all significantly increased. By comparison, the abnormalities in conventional BAER were less significant, with only I–III and I–V intervals were increased (both p < 0.05). Conclusions: Functional status of the auditory brainstem is impaired in neonatal hyperbilirubinemia. Maximum length sequence technique at high click rates improves detection of bilirubin neurotoxicity to the neonatal auditory brainstem, particularly for the more rostral regions.