Reproductive planning after genetic counselling: a perspective from the last decade

Studies from the last decade on factors influencing reproductive planning after genetic counselling were reviewed. Increased possibilities of DNA-analysis and prenatal diagnosis might have brought about a shift in the paramountcy of factors influencing reproductive planning after genetic counselling. In contrast to the literature in the seventies, the magnitude of the genetic risk was no longer found to be one of the decisive factors in postcounselling reproductive planning. Instead, the interpretation of the risk as high or low and the desire to have children appeared to be paramount. The impact of new developments in DNA-analysis in prenatal diagnosis and presymptomatic testing will be an important subject for future studies on factors influencing reproductive planning.     

Evaluation of telephone transmission for computer electrocardiographic interpretation in Japan

The reliability of the Japanese public telephone facilities to transmit electrocardiograms (e.c.g.) for computer interpretation was assessed. The International Business Machine's (IBM) e.c.g. computer program by Bonner was used. No appreciable distortion of e.c.g. was observed following repeated transmission from hospitals separated by 1000 km. Thirty-four normal and 66 abnormal e.c.g.s. were transmitted twice. Identical results were observed in 97% of normals and 92% of abnormals. Following these fundamental experiments, 1236 patients' e.c.g.s. were transmitted for computer intepretation. The study showed that 98·6% (1219 cases) were technically satisfactory and 1·4% (17 cases) were not. The 17 unsatisfactory cases were classified into ten unreceivable data formats, six inconsistent measurements and one unacceptable noise level. The authors concluded that the Japanese public telephone facilities were acceptable for the transmission of e.c.g.s. for computer interpretation.     

Drug resistance mutations and newly recognized treatment-related substitutions in the HIV-1 protease gene: prevalence and associations with drug exposure and real or virtual phenotypic resistance to protease inhibitors in two clinical cohorts of antiretroviral experienced patients

This study aimed at identifying HIV-1 protease amino acid changes associated with protease inhibitor (PI) exposure and susceptibility. New amino acid substitutions were correlated with the number of experienced PIs, reaching statistical significance only for those at positions 3, 44, and 74. The correspondence multivariate model demonstrated that > or =3 experienced PIs and substitutions or mutations at positions 3, 46, 54, 73, 74, and 84 were correlated with PI cross-resistance, including resistance for lopinavir and amprenavir in this cohort of patients who were naive for these drugs.     

《中西医结合防治小儿腹泻病专家共识》解读

小儿腹泻病是儿童消化系统最常见的疾病,2022年中国中西医结合学会儿科专业委员会制定了《中西医结合防治小儿腹泻病专家共识》。现结合临床实践及最新的研究结果,对《中西医结合防治小儿腹泻病专家共识》中小儿腹泻病的发病机制、诊断和治疗中的重点内容进行解读,以期加深医务工作者对《中西医结合防治小儿腹泻病专家共识》的认识,促进中西医结合规范化治疗小儿腹泻病。     

View box luminance measurements and their effect on reader performance

RATIONALE AND OBJECTIVES: The purpose of this study was to investigate the importance of view box luminance and viewing conditions on low-contrast detection by readers. MATERIALS AND METHODS: Radiographs of a mammographic contrast-detail phantom were examined on 632 view box panels. The luminance of these panels was obtained by using a calibrated meter and ranged from 860 to 3,300 nit. Twelve radiologists reported the number of contrast-detail disks for each size (diameter, 0.3-7.0 mm) deemed to be visible on films with optical densities of 1.00-2.60. Radiologist performance in reading low-contrast phantom images was also studied as a function of room illuminance and image masking. RESULTS: Median luminance was 1,700 nit, with 25- and 75-percentile values of 1,450 and 2,150 nit, respectively. Low-contrast visibility generally was independent of view box luminance, regardless of film density or disk diameter. Low-contrast visibility deteriorated when masking around the image was removed and at normal room illuminance. The greatest deterioration in performance occurred at the highest film densities and with the smallest size disks. CONCLUSION: Detection of low-contrast features on radiographs is relatively independent of view box luminance, but it is degraded by the presence of stray light and by increased room illuminance.     

Cranial CT interpretation by senior emergency department staff

The aims of the present study were to determine the rate of misinterpretation of non‐contrast cranial CT scans by emergency specialists and trainees compared with specialist radiologists, and the proportion of misinterpretations that is consequential. A 12‐month prospective blinded cohort study was performed. One‐hundred and ninety of 1282 scans (14.8%) were misinterpreted, and 78 of these (41.1%) were of potential or actual consequence. We conclude that the performance of senior emergency department staff in non‐contrast cranial CT interpretation is no better than moderately good, and a large proportion of misinterpretations are of potential or actual clinical consequence.     

Overly Literal Interpretations of Speech in Autism: Understanding That Messages Arise from Minds

Children with autism and children with Down's syndrome watched the following enactment. A protagonist put one item in location A and another in location B and then left the scene. Subsequently, the items were swapped the other way round. Finally, the protagonist (who remained ignorant of the swap) requested the item in A. The observing child participant was asked to judge (1) which item the protagonist wanted and (2) which item the protagonist put in A. Unlike children with Down's syndrome, those with autism made more errors in judging that the speaker wanted the item in B than in judging that the item the speaker put in A is now in B; children with autism wrongly tended to interpret utterances literally, and they did this significantly more frequently than children with Down's syndrome. We conclude that children with autism have a difficulty making non literal interpretations that cannot be explained as (1) a realist bias, (2) an inability to inhibit a prepotent response, and (3) a failure to keep track of the exchange of items.     

宫颈细胞学的临床价值

目的:探讨宫颈细胞学筛查的准确性和对临床的指导意义。方法:收集2003年四川大学附属华西第二医院筛查出382例宫颈细胞为ASC/AGC及以上病变患者的阴道镜检查、病理诊断等资料和同期住院1 147例宫颈细胞学为阴性患者的组织学结果,并将部分细胞学标本进行再次诊断,比较二次细胞学诊断结果。结果:细胞学异常的患者中,年轻患者(<35岁)占30.6%,宫颈细胞学诊断的一致性不够理想(k=0.39);ASC、LSIL和HSIL对于C INⅡ及以上病变的阳性预测值分别为40.1%、36.2%和72.0%,宫颈细胞学阴性预测值为98.9%。结论:应重视年轻女性的宫颈细胞学筛查,包括ASC在内的异常细胞学均应行阴道镜检查和组织学诊断。