Forensic identification of skeletal remains from members of Ernesto Che Guevara’s guerrillas in Bolivia based on DNA typing

We report the positive identification of several members of the guerrillas led by Ernesto “Che” Guevara on the 1960 s in Bolivia by means of DNA fingerprinting. Successful DNA typing of both short tandem repeat loci and the hypervariable region of the human mitochondrial DNA was achieved after extracting total DNA from bones obtained from two burial sites. Given the size of the Cuban database for the STR allele frequencies, a conservative approach was followed to estimate the statistical significance of the genetic evidence. The estimated probabilities of paternity for the two cases in which the paternity logic was applied were higher than 99%. One case was analyzed using mitochondrial DNA and could not be excluded from the identity proposed by the forensic anthropology team. A fourth case was identified by exclusion, on the basis of the positive identification of the other remains, the historical and other anthropological evidence. Received: 19 January 1999 / Received in revised form: 15 April 1999     

儿童身材矮小的病因分析及遗传学诊断

目的 探讨身材矮小患儿的病因分布及遗传学诊断。方法 回顾性分析86例身材矮小患儿的病因分布及临床特征。结果 86例身材矮小患儿中,病因有6种,以特发性矮小症（ISS,41%）和生长激素缺乏症（GHD,29%）最常见,遗传性疾病（14%）次之。将遗传性疾病组与ISS组、GHD组比较显示,各组患儿就诊年龄、身高、出生身长、出生体重、父母身高及胰岛素样生长因子1（IGF-1）水平差异均无统计学意义（P > 0.05）,但遗传性疾病组身高距同年龄同性别个体身高第3百分位数的差值（ΔP3）和身高标准差评分（HtSDS）显著低于ISS组（P < 0.05）,但与GHD组相比差异无统计学意义（P > 0.05）。对遗传性疾病组患儿的临床表现进行分析,显示不同遗传性疾病表型谱存在异质性及表型重叠性。结论 ISS、GHD和遗传性疾病是儿童身材矮小的主要病因。对存在严重身材矮小的患儿,在除外GHD外,有必要进一步行遗传学检查明确诊断。     

健康调查简表及其在妇科疼痛相关疾病中的应用进展②

本文介绍健康调查简表(SF-36)的发展及引进中国后在临床的应用概况，重点介绍其在妇科以慢性盆腔疼痛为主要症状相关疾病，如盆腔炎、子宫内膜异位症等的应用概况。临床如能将SF-36与特定疾病量表结合，将为妇科慢性盆腔疼痛评估提供一个重要而有意义的工具。     

Multidisciplinary intestinal rehabilitation in acute type II intestinal failure: Results from an intestinal rehabilitation team

BackgroundType II (acute) intestinal failure (IF) is usually caused by complications of abdominal surgery resulting in enteric fistulas or proximal stomas and requires parenteral nutrition (PN) for several months. This study aimed to evaluate clinical management and outcome of type II IF patients in a single center.MethodsMedical records of patients referred to the Intestinal Rehabilitation Team (IRT) at Samsung Medical Center (Seoul, Korea) were retrospectively analyzed.ResultsFrom 2014 to 2019, 34 patients with IF were referred. 28 patients were type II IF and were included in the analysis. There were 17 males and 11 females. Mean age of patients was 56.7 years. Pathophysiology of IF were high-output stoma in 16 cases, extensive bowel resection (with bowel in continuity) in 7 cases, and enterocutaneous fistula in 5 cases. The catastrophic events necessitating abdominal surgery in the patients were adhesive ileus in 9 cases, superior mesenteric artery thrombosis in 8 cases, internal herniation of bowel in 5 cases, traumatic bowel injury in 3 cases, and ischemic enteritis in 3 cases. Following medical and surgical rehabilitation, 10 patients (35.7%) were weaned off PN and overall mortality was 28.5%. Deaths were related to progression of underlying malignancies in 4 cases, liver failure in 3 cases, and sepsis in 1 case. Thirteen patients underwent surgery to restore bowel continuity. Six postoperative complications occurred in 4 patients (30.7%) and there were no postoperative mortalities.ConclusionStandardized care including restorative surgery resulted in successful outcomes in type II IF patients in this cohort.     

Beyond STRs: The Role of Diallelic Markers in Forensic Genetics

Short tandem repeat (STR) polymorphisms have been firmly established as standard DNA marker systems since more than 15 years both in forensic stain typing as well as in paternity and kinship testing. However, when analyzing genetic relationships in deficiency cases, STRs have a couple of disadvantages due to the sometimes poor biostatistical efficiency as well as the possibility to observe one or more genetic inconsistencies that could also be explained by mutational events. In such situations, additional robust markers with negligible mutations rates such as single nucleotide polymorphisms (SNPs) and insertion/deletion markers (indels) can be used as adjuncts to provide decisive genetic information in favor for or against the assumed relationship. Both SNPs and indels can now be typed more easily using multiplexes of up to 50 loci based on fragment length analysis on instruments available in all routine forensic and paternity testing laboratories, thus making it possible to extend the range of markers beyond the currently used STRs.     

The Quick Mild Cognitive Impairment screen correlated with the Standardized Alzheimer's Disease Assessment Scale–cognitive section in clinical trials

ObjectivesThe Alzheimer's Disease Assessment Scale–cognitive section and its standardized version (SADAS-cog) are the current standard for assessing cognitive outcomes in clinical trials of dementia. This study compares a shorter cognitive instrument, the Quick Mild Cognitive Impairment (Qmci) screen, with the SADAS-cog as outcome measures in clinical trials.Study Design and SettingThe SADAS-cog, Qmci, Clinical Dementia Rating (CDR) scale, and the Lawton–Brady activities of daily living (ADL) scale were assessed at multiple time points, over 1 year in a multicenter randomized clinical trial of 406 patients with mild to moderate Alzheimer's dementia. Correlations were estimated using regression at each time point, all time points, and mean values across time. Responsiveness was assessed using the standardized response mean (SRM).ResultsRegression for pooled time points showed strong and significant correlation between the SADAS-cog and Qmci (r = −0.75, P < 0.001). Correlations remained strong for mean values across time and at each time point. The SADAS-cog and Qmci also correlated with CDR and ADL scores. There was no difference in SRMs between the SADAS-cog and Qmci [t(357) = −0.32, P = 0.75].ConclusionThe Qmci correlated strongly with the SADAS-cog and both were equally responsive to deterioration. We suggest that clinicians and investigators can substitute the shorter Qmci for the SADAS-cog.