Screening for C282Y homozygosity in a Norwegian population (HUNT2): The sensitivity and specificity of transferrin saturation

Abstract

Objective. Hereditary hemochromatosis (HH) is a genetic condition characterized by increased iron absorption. Most HH cases are homozygous for the C282Y mutation in the HFE gene, but accurate prevalence data for the Norwegian population is lacking. In population studies, serum transferrin saturation (TS) is commonly used as a screening test. However, the sensitivity and specificity of TS in this setting is not well documented. The purpose of this study was to determine the prevalence of the C282Y mutation in the general population, and to evaluate the diagnostic accuracy of the TS test as a screening criterion for finding C282Y homozygotes. Materials and methods. The hemochromatosis screening study in Nord-Trøndelag county, Norway (the HUNT2 study) comprised 65,238 participants. The HUNT biobank contains biological material and data from the participants, and 5000 individuals were randomly selected. Genotyping of the common HFE gene mutations was successful for 4827 samples, from which TS data existed for 4804 individuals. From these data we calculated the population frequency of the C282Y mutation, and the sensitivity and specificity of TS measurements. Results. The prevalence of C282Y homozygosity in the population was 0.75%. Using 55% (men) and 50% (women) as decision limits, the sensitivity of two consecutive elevated TS measurements was 90.0% for men and 55.0% for women, whereas the specificity was 99.6% and 99.4%, respectively. Conclusion. An unbiased estimate of the C282Y homozygote prevalence in Norway is 0.75%. Two measurements of TS is an accurate screening test for C282Y homozygosity in men, but not in women.     

息肉样脉络膜血管病变的分类与视力改变

目的 了解不同类型息肉样脉络膜血管病变(PCV)患者视力改变情况.方法 收集经眼底彩色照相、荧光素眼底血管造影、吲哚青绿血管造影(ICGA)以及光相干断层扫描检查确诊的67例PCV患者68只眼的临床资料.根据PCV的活动性与病理特征分为静止性、渗出性和出血性PCV;根据ICGA检查中息肉样病灶的形态特征以及是否合并分支状脉络膜血管网(BVN)分为葡萄状病灶型、单个病灶型和合并BVN的混合病灶型PCV;根据息肉样病灶分布部位分为黄斑区、血管弓区、视盘旁区、中周部和混合区PCV.观察各组的视力情况.结果 静止性、渗出性、少量出血性、多量出血性PCV分别有16、19、19、14只眼,其平均最小分辨角对数(logMAR)视力分别为0.34±0.52、0.70±0.98、0.60±0.50、0.91±0.75.静止性PCV患眼平均视力显著优于渗出性、少量出血性与多量出血性PCV患眼,组间比较,差异有统计学意义(q＝4.75、4.26、5.13,P＜0.05).渗出性PCV与少量出血性PCV患眼平均视力比较,差异没有统计学意义(q=0.98,P＞0.05).葡萄状病灶型、单个病灶或多处单个病灶型、合并BVN的混合病灶型PCV分别有22、38、8只眼,其平均logMAR视力分别为0.52±0.55、0.59±0.43、0.80±0.95.伴有BVN的混合病灶型PCV患眼平均视力显著差于葡萄状病灶型和单个病灶或多处单个病灶型PCV患眼,组间比较,差异有统计学意义(q=3.81、3.02,P＜0.05).黄斑区、血管弓区、视盘旁区、混合区PCV分别有34、1 3、8、13只眼,其平均logMAR视力分别为0.78±0.43、0.57±0.37、0.38±0.27、0.74±0.41.黄斑区PCV患眼平均视力差于血管弓区与视盘旁区PCV患眼,组间比较,差异有统计学意义(q=4.61、5.11,P＜0.05);黄斑区PCV与混合区PCV患眼平均视力比较,差异无统计学意义(q=0.73,P＞0.05).结论 PCV患者视力改变情况不一,且与PCV的活动性与病理特征、息肉样病灶的形态特征和分布部位以及是否合并BVN有关.     

Trisomie 21 et autisme : double diagnostic, évaluation et intervention

Autism is recognized as an additional diagnosis possible in people with Down syndrome. This pathology is still rarely detected and treated in this population in France. This article is a review of the English literature and of studies led during the last fifteen years. Studies have identified the expression of autism clinical signs in children with Down syndrome and the sensitivity and specificity of diagnostic instruments for autism in this population despite their cognitive impairments. This paper emphasizes authors’ recommendations about intervention taking into account the dual diagnosis: they encourage the identification of autism as well as early and appropriate intervention for those children whose needs differ from their peers without comorbid disorder. These results show the need to educate professionals about the importance of the detection of autism in children with Down syndrome, and the prevention that could follow.     

周围型肺癌支气管气相的HRCT分型及其诊断价值

目的研究周围型肺癌支气管气相的}IRcT表现和分型，评估其诊断价值。材料和方法对63例具有支气管气相的周围型肺癌进行回顾性分析，在HRcT图像上对全部支气管气相进行分型。比较各型支气管气相的诊断和鉴别诊断价值。结果全部63例周围型肺癌支气管气相的HRcT表现分为5种类型。普通CT可检出由HRCT所显示的支气管气相的52％，与HRCT比较，其分型符合率为82％。全部具有支气管气相的周围型肺癌中，腺癌占86％，出现全部5种类型支气管气相：其它组织类型占14％，仅见于I型。V型一中心网格或假空洞型全部为细支气管肺泡癌。结论支气管气相的HRCT分型有助于鉴别肺腺癌与其它类型的周围型肺癌。     

耐多药结核病诊断方法研究进展

耐多药结核病的防治对于结核病的防控具有重要意义,已成为结核病防治的难点和热点问题。早期对结核病患者进行耐多药检测能够提高耐多药结核病患者的治疗成功率。耐多药结核病的诊断方法包括传统的培养方法及新型分子生物学诊断方法。作者对耐多药结核病的诊断方法进行综述,以期为耐多药结核病防治提供科学依据。     

Acute Appendicitis in Pediatric Patients With Sickle Cell Disease: Lower Incidence,More Imaging,and More False-Positives

ObjectivePatients with sickle cell disease (SCD) experience recurrent pain crises, which may mimic appendicitis. A prior study found a significantly lower rate of appendicitis in patients with SCD compared with national averages. We investigate the incidence of appendicitis and number of imaging studies for appendicitis in pediatric patients with SCD.MethodsUsing a retrospective study design from a single institution, SCD and control cohorts were created. Inclusion criteria included age 0 to 21years and at least one follow-up appointment within 24 months. Length of observation was calculated from initial presentation to either inpatient admission for appendicitis or last clinic visit. Analysis of an SCD subgroup and a control subset (n = 1,596) was used to compare the number of imaging studies. Incidence rates of appendicitis and number of appendicitis studies were determined. Z-tests, binomial enumeration exact tests, and Fischer’s exact tests were used.ResultsThe SCD cohort included 1,064 patients between January 1, 2001, to December 31, 2014, and the control cohort included 115,109 patients without SCD between January 1, 2011, and December 31, 2011. Incidence rate of appendicitis per 10,000 patient-years was significantly lower in the SCD group compared with controls (2.9 cases versus 10.7 cases per 10,000 patient-years; P = .044). Additionally, the SCD group received significantly more ultrasounds (148 versus 60 per 10,000 patient-years; P < .0001) and CTs (94 versus 27 per 10,000 patient-years; P < .0001) for appendicitis, which remained significant when controlling for race. Patients with SCD also received more false-positive scans.DiscussionPatients with SCD had a significantly lower incidence of appendicitis than controls, yet had a higher number of imaging tests performed for appendicitis. Appendicitis should be viewed as a less common cause of acute abdominal pain in SCD. This consideration should help guide imaging strategy.     

乳腺选择性导管造影在溢液性乳腺癌诊断中的应用

目的 探讨溢液性乳腺癌在选择性乳腺导管造影及普通数字乳腺X线摄影中的影像表现,评价选择性乳腺导管造影在溢液性乳腺癌诊断中的应用价值.方法 经手术病理证实,溢液性乳腺癌均在术前行乳腺X线检查及选择性乳腺导管造影检查,计算影像诊断与手术病例结果的符合率.结果 105例入选患者中,单独行乳腺X线检查,影像诊断与手术结果相符合的为71例,占67.6％;选择性乳腺导管造影检查结诊断结果与手术相符合为98例,占93.3％.结论 选择性乳腺导管造影对于溢液性乳腺癌具有重要的诊断价值.     

Peroperative scoring systems for predicting the outcome of cytoreductive surgery in advanced-stage ovarian cancer – A systematic review

The extent of peritoneal metastases (PM) largely determines the possibility of complete or optimal cytoreductive surgery in advanced ovarian cancer. An objective scoring system to quantify the extent of PM can help clinicians to decide whether or not to embark on CRS. Therefore several scoring systems have been developed by different research teams and this review summarizes their performance in predicting a complete or optimal cytoreduction in patients with advanced ovarian cancer. A systematic search in the MEDLINE database revealed 19 articles that described a total of five main scoring systems to predict the completeness of CRS in patients with FIGO stage III-IV ovarian cancer based on the surgical exploration of the abdominal cavity; PCI, PIV, Eisenkop, Espada, and Kasper. The Peritoneal Cancer Index (PCI) and the Predictive Index Value (PIV) were mentioned most frequently and showed AUCs of 0.69–0.92 and 0.66–0.98, respectively. Due to the use of different cut-offs sensitivities and specificities greatly varied. Therefore with the current data, no scoring system could be identified as best. An objective measure of the extent of disease can be of great clinical use for identifying ovarian cancer patients for which a complete (or optimal) CRS is achievable, however due to local differences in treatment strategies and surgical policy a widely adopted objective scoring system with a standard cut-off value is not feasible. Nevertheless, objective scoring systems can play an important role to guide treatment decisions.