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.     

Considerations for appraising diagnostic studies of communication disorders

Clinicians have always been aware of the importance of using valid and reliable clinical tests and measures—and of avoiding those that are not. However, the choice of which tests and measures to use is often more a matter of personal preference, arising out of knowledge of a test's psychometric properties and one's experience with the test, rather than being based on a systematic, critical appraisal of assessment tools. This paper proposes a method of critically appraising clinical assessments in the speech and language sciences, for the purpose of deciding whether they are likely to be informative in diagnosing individuals with communication disorders. QUADAS (Quality Assessment of Diagnostic Accuracy Studies)—a 14-item, evidence-based critical appraisal tool (Whiting, Rutjes, Reitsma, Bossuyt,?&?Kleijnen, 2003) originally designed to assess the quality of diagnostic-accuracy studies used in systematic reviews in medicine—is presented, with an example of how it can be applied in the field of communication disorders.     

Laparoscopic appendectomy in young female patients: Should we remove the normal-looking appendix?

Objective : This study evaluated whether a significant reduction in unnecessary appendectomies is possible by performing diagnostic laparoscopy before appendectomy in female patients of child-bearing age, leaving behind the normal-looking appendix. Materials and methods : Sixty-one consecutive female patients between the ages of 15 and 45 years with clinical diagnosis of acute appendicitis were studied prospectively. Diagnostic laparoscopy was performed to detect whether the appendix was inflamed. The appendix was then removed and the result of laparoscopic diagnosis was matched with histological diagnosis. Results : Ten out of the 42 laparoscopically diagnosed appendicitis cases had normal appendices on histological examination. Six out of the 19 laparoscopically diagnosed normal appendices had histological evidence of appendicitis. The sensitivity of laparoscopy was 84% and the specificity was 56.5%. Conclusions : Discrepancies existed between laparoscopic appearance and histological examination in acute appendicitis. The appendices of all those with clinically suspected appendicitis should be removed and sent for histological confirmation.      

Cartilage destruction in small joints by rheumatoid arthritis: assessment of fat-suppressed three-dimensional gradient-echo MR pulse sequences in vitro

Purpose. To assess the accuracy of different MR sequences for the detection of articular cartilage abnormalities in rheumatoid arthritis. Design and patients. Ten metacarpophalangeal joints and 10 metatarsophalangeal joints (specimens from arthritis patients undergoing ablative joint surgery) were examined with a fat-suppressed (FS) 3D FLASH, a FS 3D FISP, a FS 2D fast spin-echo T2-weighted, and a 2D FS spin-echo T1-weighted sequence. Each cartilage lesion and each cortical lesion was graded from 0 to 4 (modified Outerbridge staging system). Subsequently, the results of each sequence were compared with the macroscopic findings and statistically tested against each other. Results. The study shows that 3D gradient-echo sequences with fat suppression were best for imaging and grading of cartilage lesions in arthritis of the small joints of the hands and feet. Using 3D techniques, all grade 2, grade 3, and grade 4 lesions of cartilage or cortical bone were detected. Conclusion. FS 3D gradient-echo techniques were best for the detection and grading of hyaline cartilage and subchondral bone lesions in rheumatoid arthritis. MRI has a great potential as an objective method of evaluating cartilage damage and bone erosions in rheumatoid arthritis.     

视神经管骨折的CT诊断

本文对８５例视神经管骨折的临床与ＣＴ所见进行了回顾性分析。受伤原因中车祸３６例，撞伤１３例，摔伤１１例，击伤或砸伤１２例，其他伤少见。均有明显视力下降，其中失明无光感达７８例。８５例均行骨算法高分辨率ＣＴ扫描，显示视神经管内壁骨折６６例，内、上壁骨折１１例，上壁骨折３例，粉碎骨折５例，伴有邻近眶壁或蝶窦骨折７１例。视神经管骨折容易造成失明，因此外伤失明的患者早期行ＣＴ检查，对临床诊断及选择治疗方案具有指导意义     

腹部神经源性肿瘤CT分析34例

目的：探讨腹部神经源性肿瘤的CT特征，提高CT诊断能力，方法：分析34例手术病理证实的腹部神经源性肿瘤，其中神经鞘瘤16例，神经纤维瘤12例，节细胞神经瘤及神经母细胞瘤6例，良性18例，恶性16例，扫描方法以肿瘤为中心行CT平扫，28例增强扫描，层厚10mm。结果：腹部神经源性肿瘤大部分位于腹膜后及腹膜后脏器（23／34）占67．65％，其余11例来源于腹腔脏器和腹壁，良性神经源性瘤大多表现为圆形，类圆形组织密度影，边缘光滑，密度均匀，节细胞神经瘤可见斑点状钙化，增强扫描肿瘤大多表现为中度均匀或不均匀强化，恶性肿瘤体积大，形态不规则，边缘欠光滑，密度不均匀，有的肿瘤中心液化坏死或相互融合或侵蚀周围组织，结论：腹部神经源性肿瘤如果与大神经干走行无关，定性诊断较困难，肿瘤大小和密度不是区分良恶性神经源性肿瘤的特性表现，肿瘤边缘不光滑，形态不规则，并对周围组织的侵蚀破坏才是诊断恶性神经源性肿瘤的特征。     

经颅多普勒超声检查在颈椎病诊断的参考价值

目的　探讨经颅多普勒超声检查在颈椎病诊断的参考价值。方法　分别对 36例颈椎病病人和 2 0名正常成人进行经颅多普勒超声检查 ,并对椎—基底动脉收缩期峰值血流速度 (Vp)、舒张期末峰值流速 (Vd)以及双侧的差值进行统计学分析。结果　 36例颈椎病病人其中血流速度减慢的 2 9例 ,双椎动脉 Vp、Vd的均值与 2 0例正常对照组比较有显著差异 (P<0 .0 1) ;血流速度增高的 7例与 2 0例正常对照组比较仅 Vp相差显著 (P<0 .0 1) ,而 Vd无显著差异(P>0 .0 5 ) ;36例颈椎病患者两侧椎动脉血流速度差值与正常对照组两侧椎动脉血流速度差值进行比较有显著差异(P<0 .0 1)。结论　经颅多普勒超声检查可作为颈椎病辅助诊断的依据     

2021 AHA/ACC/ASE/CHEST/SAEM/SCCT/SCMR Guideline for the Evaluation and Diagnosis of Chest Pain: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines

AimThis clinical practice guideline for the evaluation and diagnosis of chest pain provides recommendations and algorithms for clinicians to assess and diagnose chest pain in adult patients.MethodsA comprehensive literature search was conducted from November 11, 2017, to May 1, 2020, encompassing randomized and nonrandomized trials, observational studies, registries, reviews, and other evidence conducted on human subjects that were published in English from PubMed, EMBASE, the Cochrane Collaboration, Agency for Healthcare Research and Quality reports, and other relevant databases. Additional relevant studies, published through April 2021, were also considered.StructureChest pain is a frequent cause for emergency department visits in the United States. The “2021 AHA/ACC/ASE/CHEST/SAEM/SCCT/SCMR Guideline for the Evaluation and Diagnosis of Chest Pain” provides recommendations based on contemporary evidence on the assessment and evaluation of chest pain. This guideline presents an evidence-based approach to risk stratification and the diagnostic workup for the evaluation of chest pain. Cost-value considerations in diagnostic testing have been incorporated, and shared decision-making with patients is recommended.