利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。     

手术治疗结节性甲状腺肿合并甲状腺癌的临床效果

目的:分析手术治疗结节性甲状腺肿合并甲状腺癌的临床效果。方法:从2017年3月~2019年3月期间到我院接受治疗的结节性甲状腺肿合并甲状腺癌患者中选出60例完成此次研究,60例患者全部接受手术治疗,经1年的随访后对比两组患者接受治疗前后的生活质量变化情况及治疗效果。结果:接受治疗后患者的心理、身体、物质生活、社会关系等多项生活质量指标均优于治疗前,治疗前后的数据对比存在明显差异(P<0.05)。所有患者接受治疗后均为表现出较为明显的不良反应,其治疗存在较高安全性,总治疗有效率为87.50%(55/60)。结论:帮助结节性甲状腺肿合并甲状腺癌患者选择合理的手术方式,能够提高临床治疗效果,减少并发症。     

妊娠期疾病类型与甲状腺功能异常相关性分析

目的研究妊娠期疾病类型与甲状腺功能异常相关性。方法回顾性分析2015年1月-2017年1月期间在天津港口医院治疗的107例孕妇,根据妊娠期是否患病分为A组、B组与对照组。A组为22例确诊为妊娠期糖尿病的患者;B组为36例确诊为妊娠期高血压疾病的患者;对照组为49例妊娠期血糖与血压正常、无其他疾病的孕妇。所有研究对象妊娠期定期抽取静脉血检测甲状腺功能、血压及血糖水平。采用妊娠期高血压疾病诊断标准、妊娠期糖尿病诊断标准以及妊娠期甲状腺疾病诊断标准联合评价。结果此研究发现糖尿病组与对照组在孕中期游离T4值、A组与对照组在孕晚期、B组与对照组在孕中期和孕晚期的促甲状腺激素(TSH)值对比,差异均有统计学意义(均P<0.05);3组孕妇不同妊娠时期临床甲状腺功能亢进、减退的发病情况各组别数据对比,差异无统计学意义(P>0.05);A组、B组与对照组在孕中期与孕晚期亚临床甲状腺功能减退发病情况数据对比,A组、B组与对照组在不同妊娠时期低T4血症发病情况数据对比,差异均有统计学意义(均P<0.05);孕早期仅甲状腺过氧化物酶抗体(TPOAb)阳性与甲状腺正常数据对比,B组发生率高于对照组、A组发生率低于对照组,差异均有统计学意义(均P<0.05)。结论与正常孕妇相比,妊娠期高血压疾病与妊娠期糖尿病患者在不同妊娠期的游离T4水平更低、TSH水平更高,且随着妊娠期的增长,变化趋势不断增大;妊娠期疾病类型与甲状腺功能异常存在着联系,妊娠期高血压疾病和糖尿病患者甲状腺功能异常发病率明显更高。     

Gender,race and socioeconomic influence on diagnosis and treatment of thyroid disorders in the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil)

Thyroid diseases are common, and use of levothyroxine is increasing worldwide. We investigated the influence of gender, race and socioeconomic status on the diagnosis and treatment of thyroid disorders using data from the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil), a multicenter cohort study of civil servants (35-74 years of age) from six Brazilian cities. Diagnosis of thyroid dysfunction was by thyrotropin (TSH), and free thyroxine (FT4) if TSH was altered, and the use of specific medications. Multivariate logistic regression models were constructed using overt hyperthyroidism/hypothyroidism and levothyroxine use as dependent variables and sociodemographic characteristics as independent variables. The frequencies of overt hyper- and hypothyroidism were 0.7 and 7.4%, respectively. Using whites as the reference ethnicity, brown, and black race were protective for overt hypothyroidism (OR=0.76, 95%CI=0.64-0.89, and OR=0.53, 95%CI=0.43-0.67, respectively, and black race was associated with overt hyperthyroidism (OR=1.82, 95%CI=1.06-3.11). Frequency of hypothyroidism treatment was higher in women, browns, highly educated participants and those with high net family incomes. After multivariate adjustment, levothyroxine use was associated with female gender (OR=6.06, 95%CI=3.19-11.49) and high net family income (OR=3.23, 95%CI=1.02-10.23). Frequency of hyperthyroidism treatment was higher in older than in younger individuals. Sociodemographic factors strongly influenced the diagnosis and treatment of thyroid disorders, including the use of levothyroxine.     

Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery: Diagnoses and Surgical Results in 12 Pediatric Patients

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital condition. It responds well to early diagnosis and treatment, but otherwise the prognosis is poor. We present our case series of 12 patients (mean age, 2 ± 2.58 yr; age range, 2 mo–8 yr), emphasizing the diagnostic process and discussing our surgical results. The diagnosis of ALCAPA should be suspected in infants who have dilated cardiomyopathy with electrocardiographic changes that suggest ischemia, and in older children who have isolated mitral regurgitation. When clinical suspicion is high, the results of 2-dimensional echocardiography combined with color-flow Doppler studies in expert hands can establish the diagnosis, thus avoiding angiography in critically ill infants. The treatment of choice in our patients was transfer and reimplantation of the left coronary artery onto the ascending aorta. There were 2 deaths: both were infants in extremis who underwent emergency surgery. An older child with severe ventricular dysfunction was given mechanical ventricular assistance and then heart transplantation. As of this report, all 10 survivors remained well and asymptomatic.     

Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome

Congenital rubella syndrome (CRS) results from maternal rubella virus infection in early pregnancy. Abnormal neuroimaging findings have been analyzed in a small number of CRS patients in the past; however, their clinical significance has been poorly addressed. Therefore, we have investigated the neuroimaging findings of 31 patients with CRS from previous studies. The most common finding was parenchymal calcification, which was observed in 18 of 31 patients (58.1%). A multivariable logistic regression model showed that it was associated with psychomotor or mental retardation (p = 0.018), suggesting that parenchymal calcification in CRS could be a prognostic factor.     

产前超声诊断胎儿右房异构一例

本文报道产前超声诊断胎儿右房异构一例。孕妇孕24周产前超声检查发现胎儿左位心合并复杂心血管畸形(右心室双出口、房室间隔缺损、肺动脉发育不良、双侧上腔静脉、心下型完全型肺静脉异位引流)、胃泡位于腹腔右侧、中位肝、可疑无脾、腹主动脉与下腔静脉位于脊柱左侧、双侧支气管呈右侧支气管对称形态,综合考虑右房异构可能。引产后经尸体解剖证实脾脏发育不良、右房异构。右房异构常合并复杂心血管畸形,因此产前超声发现复杂心血管畸形时,应警惕右房异构的可能。右房异构病死率极高,产前诊断具有重要意义。