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Relationship between N-terminal pro-brain natriuretic peptide concentration and heart-type fatty acid-binding protein in postmortem urine 死后尿液中 N 端前脑钠肽浓度与心脏型脂肪酸结合蛋白之间的关系
IF 1.3 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-26 DOI: 10.1016/j.legalmed.2024.102479
Shojiro Takasu, Sari Matsumoto, Yuko Kanto, Kyoko Iwadate, Kimiharu Iwadate

The clinical use of N-terminal pro-brain natriuretic peptide (NT-proBNP) and blood concentrations of heart-type fatty acid-binding protein (HFABP) is well-established in diagnosing heart conditions. However, their applicability in forensics is controversial due to postmortem changes. NT-proBNP and HFABP are excreted in the urine due to their small molecular weights and may be found in postmortem urine samples; however, their correlation has not been evaluated. In this study, we compared the concentrations of urinary NT-proBNP and HFABP in 386 forensic autopsy cases. The urinary NT-proBNP levels were significantly higher in acute myocardial infarction (AMI), congestive heart failure (CHF), sepsis, and hyperthermia cases, with the highest levels in CHF cases. Similarly, HFABP concentration was significantly higher in CHF, sepsis, and hyperthermia cases, with the highest level observed in hyperthermia cases. However, the difference in urinary HFABP levels between the AMI and control cases was not significant. Our analysis revealed a correlation between postmortem urine NT-proBNP and HFABP levels, and the NT-proBNP/HFABP ratio was high in patients with CHF and sepsis cases and low in those with hyperthermia. The difference between the ratios was possibly due to the combined release of ventricular myocardial cells in response to ventricular wall stress and myocardial injury for NT-proBNP, as well as myocardial and skeletal muscle injuries for HFABP. This study, for the first time, demonstrates the utility of postmortem measurements of urinary NT-proBNP and HFABP levels, offering valuable insights for improving the accuracy of postmortem diagnosis in forensic medicine.

N 端前脑钠尿肽(NT-proBNP)和心脏型脂肪酸结合蛋白(HFABP)的血液浓度在诊断心脏疾病方面的临床应用已得到广泛认可。然而,由于尸体的变化,它们在法医学中的适用性还存在争议。NT-proBNP 和 HFABP 由于分子量较小,会随尿液排出体外,因此可能会在死后尿液样本中发现这两种蛋白,但它们之间的相关性尚未得到评估。在这项研究中,我们比较了 386 例法医尸检样本中尿液中 NT-proBNP 和 HFABP 的浓度。急性心肌梗死(AMI)、充血性心力衰竭(CHF)、败血症和高热病例的尿液中 NT-proBNP 水平明显较高,其中 CHF 病例的水平最高。同样,充血性心力衰竭、败血症和高热病例的 HFABP 浓度也明显较高,其中高热病例的浓度最高。然而,急性心肌梗死病例和对照组病例尿液中的 HFABP 水平差异并不明显。我们的分析表明,死后尿液中的 NT-proBNP 与 HFABP 水平之间存在相关性,且 CHF 和败血症患者的 NT-proBNP/HFABP 比值较高,而高热患者的比值较低。NT-proBNP和HFABP比率之间的差异可能是由于心室壁应力和心肌损伤对心室心肌细胞的联合释放,以及心肌和骨骼肌损伤对HFABP的影响。这项研究首次证明了死后测量尿液中 NT-proBNP 和 HFABP 水平的实用性,为提高法医学死后诊断的准确性提供了宝贵的见解。
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引用次数: 0
Review of the lethal mechanism of insulin poisoning and the characteristic of forensic identification 回顾胰岛素中毒的致死机制和法医鉴定的特点
IF 1.3 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-24 DOI: 10.1016/j.legalmed.2024.102478
Zhonghao Yu , Yuhao Yuan , Jiaxin Zhang, Yiling Li, Zhaoxuan Wang, Yubei Wang, Yijie Duan, Yiwu Zhou

Insulin, as the only hypoglycemic hormone in the body, plays a key role in blood sugar control. However, excessive insulin intake can lead to insulin poisoning and even death, which often occurs in clinical and forensic work. At present, some researches on insulin poisoning have been carried out at home and abroad, however, it seems that the mechanism and forensic characteristics of insulin poisoning are not clear and complete. Therefore, in this paper, we reviewed the potential mechanism of insulin poisoning, the methods of insulin detection and the forensic identification of poisoning cases, aiming at providing services for the forensic identification of insulin poisoning.

胰岛素作为人体内唯一的降糖激素,在血糖控制中起着关键作用。然而,过量摄入胰岛素会导致胰岛素中毒,甚至死亡,这在临床和法医工作中经常发生。目前,国内外已对胰岛素中毒进行了一些研究,但对胰岛素中毒的机理和法医学特征似乎还不够明确和完整。因此,本文综述了胰岛素中毒的潜在机制、胰岛素的检测方法以及中毒案件的法医鉴定,旨在为胰岛素中毒的法医鉴定提供服务。
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引用次数: 0
β stimulator induces upregulation of miR-27a in the rat heart one hour after the injection 注射一小时后,β刺激物诱导大鼠心脏中的 miR-27a 上调。
IF 1.3 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-24 DOI: 10.1016/j.legalmed.2024.102475
Tadashi Hosoya , Kazuki Harada , Jun Kanetake

MicroRNAs (miRs) are non-coding small RNA containing 18 to 22 nucleotides, that post-transcriptionally regulates mRNA expression. Chronic injection of β stimulator is known to induce cardiac injury and change of miRs expression level in the heart with some pathological changes such as fibrosis, heart failure, myocardial infarction. We investigated the changes in the expression level of miRs in the rat heart one hour after isoproterenol (a β stimulator) injection.

Male Sprague-Dawley rats were assigned into three groups and received subcutaneous injection of normal sarin (NS) or 0.1 mg/kg isoproterenol (ISO-0.1) or 10 mg/kg isoproterenol (ISO-10). After one hour, we collected their heart and plasma. Total RNA was extracted from the left ventricle and used for deep miRNA sequencing. Based on the results of miRNA sequencing, we performed real-time polymerase chain reaction (RT-PCR) using 8 miR primers. Cardiac injury was evaluated by hematoxylin and eosin, and phosphotungstic acid–hematoxylin staining and measuring troponin-I levels in plasma.

Troponin-I was significantly increased in ISO-0.1 and ISO-10 groups, but histological observation did not show any cardiac necrosis. miRNA sequencing identified 14 upregulated miRs and 12 downregulated miRs. Of the 26 miRs, RT-PCR confirmed miR-144-3p/5p and miR-451-5p were decreased, and that 5 miRs (miR-27a-5p, miR-30b-3p, miR-92a-1-5p, miR-132-5p, miR-582-3p) were upregulated.

This study showed that β stimulus causes downregulation of miR-144/451 cluster and increases expression of five 5 miRs in the heart, especially 6.5-fold upregulation of miR-27a-5p as early as one hour after isoproterenol injection. Therefore, these miRs might be good biomarkers for cardiac injury.

微RNA(miRs)是一种含有18至22个核苷酸的非编码小RNA,可在转录后调节mRNA的表达。众所周知,长期注射β刺激剂会诱发心脏损伤,并改变心脏中miRs的表达水平,导致纤维化、心力衰竭、心肌梗死等病理变化。我们研究了大鼠心脏在注射异丙肾上腺素(一种 β 刺激剂)一小时后 miRs 表达水平的变化。雄性 Sprague-Dawley 大鼠被分为三组,分别皮下注射普通沙林(NS)或 0.1 毫克/千克异搏定(ISO-0.1)或 10 毫克/千克异搏定(ISO-10)。一小时后,我们收集它们的心脏和血浆。从左心室提取总 RNA,用于 miRNA 深度测序。根据 miRNA 测序结果,我们使用 8 个 miR 引物进行了实时聚合酶链反应(RT-PCR)。通过苏木精和伊红、磷钨酸-苏木精染色以及测量血浆中肌钙蛋白-I的水平来评估心脏损伤。ISO-0.1和ISO-10组的肌钙蛋白-I明显升高,但组织学观察并未发现任何心脏坏死。在26个miRs中,RT-PCR证实miR-144-3p/5p和miR-451-5p下降,5个miRs(miR-27a-5p、miR-30b-3p、miR-92a-1-5p、miR-132-5p和miR-582-3p)上调。这项研究表明,β刺激会导致miR-144/451簇下调,并增加心脏中5种miRs的表达,尤其是miR-27a-5p早在注射异丙肾上腺素一小时后就上调了6.5倍。因此,这些 miRs 可能是心脏损伤的良好生物标志物。
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引用次数: 0
Postmortem changes in the eye on computed tomography images 计算机断层扫描图像上的眼球死后变化。
IF 1.3 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-24 DOI: 10.1016/j.legalmed.2024.102477
Motoo Yoshimiya, Shogo Shimbashi, Hideki Hyodoh

Background

Ocular tension decreases with increasing postmortem interval (PMI) and eyes collapse with extreme progression of postmortem change; however, time-related changes in postmortem computed tomography (PMCT) findings have not been clarified. This study aimed to quantitatively evaluate the vitreous volume and CT values of the vitreous body to clarify time-related changes in PMCT.

Methods

We retrospectively reviewed PMCT images of the eyes of subjects who underwent autopsy at our institution between July 2023 and February 2024. They were classified into four PMI groups: PMI-1: < 1 day, PMI-2: 1–2 days, PMI-3: 3–6 days, PMI-4: ≥ 7 days. The vitreous volumes and mean CT values of the vitreous chambers were measured. Additionally, the presence of intraocular gas and crystalline lens dislocation was observed.

Results

The PMCT images of 131 eyes of 66 patients (41 males, 25 females) were analyzed. The mean age was 63.7 (22–99) years. The volume of the vitreous cavity was significantly decreased at PMI-3 and PMI-4, which indicated scleral depression. Intraocular gas appeared in PMI-4. Lens dislocation began at PMI-3 and was more frequently observed at PMI-4 and in the higher-temperature environment group.

Conclusion

Ocular findings on PMCT are useful for estimating the time of death.

背景:眼球张力会随着死后间隔(PMI)的增加而降低,眼球会随着死后变化的极端进展而塌陷;然而,死后计算机断层扫描(PMCT)结果中与时间相关的变化尚未明确。本研究旨在定量评估玻璃体体积和玻璃体 CT 值,以明确 PMCT 的时间相关变化:我们回顾性地查看了2023年7月至2024年2月期间在我院接受尸检的受试者的眼部PMCT图像。他们被分为四个 PMI 组:PMI-1:<1天,PMI-2:1-2天,PMI-3:3-6天,PMI-4:≥7天。测量玻璃体体积和玻璃体腔的平均 CT 值。此外,还观察了是否存在眼内气体和晶状体脱位:分析了 66 名患者(41 名男性,25 名女性)131 只眼睛的 PMCT 图像。平均年龄为 63.7(22-99)岁。在 PMI-3 和 PMI-4 处,玻璃体腔的体积明显缩小,这表明巩膜凹陷。PMI-4 出现眼内气体。晶状体脱位始于 PMI-3,在 PMI-4 和较高温度环境组中更常被观察到:结论:PMCT的眼部检查结果有助于估计死亡时间。
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引用次数: 0
Deep learning in sex estimation from photographed human mandible using the Human Osteological Research Collection 利用人类骨质研究收藏库,从拍摄的人类下颌骨中进行性别估计的深度学习。
IF 1.3 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-23 DOI: 10.1016/j.legalmed.2024.102476
Anniina Kuha , Jan Ackermann , Juho-Antti Junno , Anna Oettlé , Petteri Oura

Sex estimation is a necessary part of forensic and osteological analyses of skeletal human remains in the construction of a biological profile. Several skeletal traits are sexually dimorphic and used for skeletal sex estimation. The human mandible and morphological traits therein have been long used for sex estimation, but the validity of using the mandible in this purpose has become a concern. In this study, we examined the potential of artificial intelligence (AI) and especially deep learning (DL) to provide accurate sex estimations from the mandible. We used 193 modern South African mandibles from the Human Osteological Research Collection (HORC) in the Sefako Makgatho Health Sciences university with known sex to conduct our study. All mandibles were photographed from the same angle and the photographs were analyzed with an open-source DL software. The best-performing DL algorithm estimated the sex of males with 100% accuracy and females with 76.9% accuracy. However, further studies with a higher number of specimens could provide more reliable validity for using AI when building the biological profile from skeletal remains.

性别估计是对人类遗骸骨骼进行法医和骨骼学分析以构建生物特征的必要组成部分。一些骨骼特征具有性别二态性,可用于骨骼性别估计。人类下颌骨及其形态特征长期以来一直被用于性别估计,但使用下颌骨进行性别估计的有效性已成为一个令人担忧的问题。在这项研究中,我们考察了人工智能(AI),特别是深度学习(DL)在通过下颌骨提供准确性别估计方面的潜力。我们使用了 193 个已知性别的南非现代下颌骨,这些下颌骨来自 Sefako Makgatho 健康科学大学的人类骨骼研究收藏馆(HORC)。所有下颌骨均从同一角度拍摄,并使用开源 DL 软件对照片进行分析。表现最好的 DL 算法估计男性性别的准确率为 100%,估计女性性别的准确率为 76.9%。然而,使用更多标本进行进一步研究,可以为使用人工智能从骨骼遗骸建立生物特征提供更可靠的有效性。
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引用次数: 0
Iron contact burns and the path to the diagnosis of child abuse 铁接触灼伤和诊断虐待儿童的途径
IF 1.3 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-17 DOI: 10.1016/j.legalmed.2024.102474
Alberto Amadasi , Saskia Etzold

Burns are a common injury in both abused and non-abused children, and the accurate diagnosis of abusive burns is important to ensure protection. In the particular case of a three year old child with a second degree burn on her face and neck caused by an alleged contact with a hot iron, the correct analysis of the injury and the dynamics of what was reported as a domestic accident allowed the recognition of a different scenario and a diagnosis of child abuse due to the pressure of the flat part of the iron on the skin, thus uniformly involving the cheek and the upper part of the neck. The involvement of parts of the body placed on different anatomical planes (thus indicating pressure and not mere contact) should be considered as a further element of differential diagnosis. This demonstrates and underlines the importance of a thorough multidisciplinary assessment for this type of injury which is described as an accidental event but rarely as an outcome of child abuse.

烧伤是受虐待和未受虐待儿童的常见损伤,准确诊断虐待性烧伤对于确保保护非常重要。在一个三岁儿童脸部和颈部二度烧伤的特殊案例中,据称是由于接触烙铁造成的,对伤情的正确分析以及对所报告的家庭事故的动态分析,使我们认识到不同的情况,并诊断为虐待儿童,因为烙铁的扁平部分压在皮肤上,从而均匀地涉及脸颊和颈部上半部分。不同解剖平面上的身体部位受累(从而表明受压而不仅仅是接触)应被视为鉴别诊断的另一个要素。这表明并强调了对此类损伤进行全面的多学科评估的重要性。
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引用次数: 0
Population genetics for 18 short tandem repeat loci (Canine GenotypesTM Panel 2.1 Kit) of 150 unrelated dogs from three pure-bred groups in Japan 日本三个纯种犬群体中 150 只无血缘关系犬的 18 个短串联重复位点的群体遗传学(犬基因型面板 2.1 套件
IF 1.3 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-15 DOI: 10.1016/j.legalmed.2024.102472
Fubuki Kunita , Chihiro Udagawa , Takeshi Inagaki , Hideto Suzuki , Makoto Bonkobara , Toshinori Omi

Similar to that in Europe and the United States, the need for forensic DNA identification in dogs is increasing in Japan. As few studies have used commercial genotyping kits, the effectiveness of the Canine GenotypesTM Panel 2.1 Kit for individual DNA identification in dogs bred in Japan was examined. We genotyped 150 unrelated dogs (50 Golden Retrievers, 50 Miniature Dachshunds, and 50 Shiba Inu) at 18 canine short tandem repeat loci by the Kit. The allele frequency, expected heterozygosity, observed heterozygosity, p-value, power of the discriminant, and of exclusion, polymorphic information content, and random matching probability were calculated for each marker. The random matching probability was subsequently estimated to be 4.394×10-22 in the 150 dogs of the three pure-bred groups based on 18 STR loci; 3.257 × 10−16 in the Golden Retriever, 3.933 × 10−18 in the Miniature Dachshund, and 2.107 × 10−18 in the Shiba Inu breeds. In addition, principal component analysis based on genotype data revealed the Golden Retrievers, Miniature Dachshunds, and Shiba Inus separated into three clusters. The results of the genotype analysis showed that the Canine GenotypesTM Panel 2.1 Kit could be useful for identity testing and tool of population study of canines in Japan.

与欧洲和美国类似,日本对狗的法医 DNA 鉴定需求也在增加。由于很少有研究使用商业基因分型试剂盒,因此我们研究了Canine GenotypesTM Panel 2.1试剂盒对日本饲养的狗进行个体DNA鉴定的有效性。我们使用该试剂盒对 150 只无血缘关系的犬(50 只金毛寻回犬、50 只迷你腊肠犬和 50 只柴犬)的 18 个犬短串联重复位点进行了基因分型。计算了每个标记的等位基因频率、预期杂合度、观察到的杂合度、P 值、判别力、排除力、多态信息含量和随机匹配概率。随后,根据 18 个 STR 位点估算出三个纯种犬群 150 只犬的随机匹配概率为 4.394×10-22;金毛寻回犬为 3.257 × 10-16,迷你腊肠犬为 3.933 × 10-18,柴犬为 2.107 × 10-18。此外,基于基因型数据的主成分分析表明,金毛寻回猎犬、迷你腊肠犬和柴犬分为三个群组。基因型分析结果表明,Canine GenotypesTM Panel 2.1 Kit 可用于日本犬类的身份检测和种群研究。
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引用次数: 0
An autopsy case of a young man with a single overdose of dextromethorphan 一例单次过量服用右美沙芬的年轻男子尸检病例
IF 1.5 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-11 DOI: 10.1016/j.legalmed.2024.102470
Kyoko Hasuwa, Noboru Inoue, Shuhei Tamura, Ikuko Terazawa, Katsuya Yuui, Risa Kudo, Shogo Kasuda

Dextromethorphan (DXM) is an over-the-counter antitussive that is commonly used worldwide. Recently, DXM has become popular among young individuals because of its euphoric, hallucinogenic, and dissociative properties. Despite an increasing number of patients with DXM addiction, fatal cases of DXM poisoning are rare, and patients with fatalities often ingest DXM along with other drugs. Here, we report an autopsy case in which DXM was detected without multidrug ingestion. A man in his early twenties was found dead at home; no external injuries or obvious internal lesions were found during the autopsy. The toxicological analyses revealed extremely high concentrations of DXM, and no drugs other than DXM were detected. To the best of our knowledge, this is the first case report to describe a death caused by a single overdose of DXM in Japan. Public awareness regarding the risks associated with a massive ingestion of DXM should be increased.

右美沙芬(DXM)是一种非处方止咳药,在全球范围内普遍使用。最近,DXM 因其兴奋、致幻和解离特性而在年轻人中流行起来。尽管服用 DXM 上瘾的病人越来越多,但致命的 DXM 中毒病例却很少见,而且致命的病人往往在服用 DXM 的同时还服用了其他药物。在此,我们报告了一例尸检病例,在该病例中检测出 DXM,但并未发现摄入多种药物。一名二十出头的男子被发现死于家中,尸检时未发现外伤或明显的内脏病变。毒理学分析显示 DXM 的浓度极高,除 DXM 外未检测到其他药物。据我们所知,这是日本首例描述单次过量服用 DXM 导致死亡的病例报告。应提高公众对大量摄入 DXM 相关风险的认识。
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引用次数: 0
Pediatric skeletal injuries in emergency department; an alarm of child maltreatment in Egypt: A cross-sectional study 急诊科小儿骨骼损伤;埃及儿童虐待的警报:一项横断面研究。
IF 1.5 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-10 DOI: 10.1016/j.legalmed.2024.102471
Asmaa Mohammad Moawad , Eman Mohamed Ibraheim Moawad , Mohamed Ali Mohamed Mahrous , Marwa M. Zein , Amal Salama Mahmoud Mahmoud

Background

Child physical abuse, a type of child maltreatment (CM), poses a significant global public health concern. Nonaccidental fractures and soft tissue injuries, which encompass any action that directly or indirectly harms a child, are the primary indicators of physical abuse in children.

Objective

This study aimed to investigate the prevalence, risk factors, and outcomes of accidental and nonaccidental skeletal fractures in a sample of Egyptian children.

Methods

A cross-sectional analytical study was conducted between March 2022 and August 2022. A total of 156 children who presented with skeletal injuries and attended Mobarak Central Hospital were enrolled. Patients were subjected to full history taking, complete examination, and investigations. A structured questionnaire was administered to all the legal guardians.

Results

Physical abuse was reported in 22.4 % of cases, while medical neglect was reported in 19.9 % of cases. The incidence of physical abuse was notably higher among children whose fathers were smokers and/or drug addicts (p ≤ 0.05). The most common form of physical abuse was hitting (94.3 %). Among skeletal injuries, fractures were predominant (94.3 %), primarily closed fractures associated with contusions. Fractures of the upper limb accounted for the highest incidence (94.3 %) of skeletal injuries, and 60 % of physically abused children experienced moderate-severity injuries.

Conclusion

The most common fracture observed in abused children is the upper limb fracture, typically involving a single bone. Clinicians should be more vigilant in suspecting abuse, even in cases where there is an isolated fracture, and advocate for the development of parental training programs.

背景:儿童身体虐待是儿童虐待(CM)的一种类型,是一个重大的全球公共卫生问题。非意外骨折和软组织损伤包括任何直接或间接伤害儿童的行为,是儿童身体虐待的主要指标:本研究旨在调查埃及儿童样本中意外和非意外骨骼骨折的发生率、风险因素和结果:在 2022 年 3 月至 2022 年 8 月期间进行了一项横断面分析研究。共有 156 名骨骼受伤的儿童在莫巴拉克中心医院就诊。患者接受了全面的病史采集、全面的检查和检验。对所有法定监护人进行了结构化问卷调查:结果:22.4%的病例报告了身体虐待,19.9%的病例报告了医疗疏忽。在父亲是吸烟者和/或吸毒者的儿童中,身体虐待的发生率明显更高(P ≤ 0.05)。最常见的身体虐待形式是殴打(94.3%)。在骨骼损伤中,以骨折为主(94.3%),主要是伴有挫伤的闭合性骨折。在骨骼损伤中,上肢骨折的发生率最高(94.3%),60%的受虐儿童有中度损伤:结论:在受虐儿童中最常见的骨折是上肢骨折,通常只涉及一块骨头。临床医生应提高警惕,即使在发生孤立骨折的情况下也要怀疑存在虐待行为,并倡导制定家长培训计划。
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引用次数: 0
Association between serum catecholamine levels and VNTR polymorphism in the promoter region of the monoamine oxidase A gene in forensic autopsy cases 法医尸检病例中血清儿茶酚胺水平与单胺氧化酶 A 基因启动子区 VNTR 多态性的关系
IF 1.5 4区 医学 Q3 MEDICINE, LEGAL Pub Date : 2024-06-06 DOI: 10.1016/j.legalmed.2024.102469
Aya Matsusue , Mio Takayama , Naoto Tani , Brian Waters , Masayuki Kashiwagi , Shin-ichi Kubo , Takaki Ishikawa

Monoamine oxidase A (MAOA) catalyzes oxidative deamination of catecholamines. A functional variable number tandem repeat (VNTR) polymorphism in the promoter region of the MAOA gene has been previously reported. In the present study, we measured serum adrenaline (Adr), noradrenaline (Nad), and dopamine (DA) levels in 90 male and 34 female Japanese autopsy cases in which amphetamines or psychotropic drugs were not detected. We examined the frequencies of MAOA-uVNTR alleles in these cases and investigated the effects of the MAOA-uVNTR polymorphism on serum Adr, Nad, and DA levels. Evaluation indicated no significant association between MAOA-uVNTR polymorphism and serum Adr, Nad, or DA levels in males, although a significant association between MAOA-uVNTR polymorphism and serum Adr and DA levels were observed in females. Females with the 3/3 genotype had higher serum Adr and DA levels than those with a 4-repeat allele (3/4 and 4/4 genotypes) (p = 0.048 and 0.020, respectively). There was no significant association between MAOA-uVNTR polymorphism and serum Nad levels in females. The present study indicates that MAOA-uVNTR polymorphism influences serum Adr and DA levels only in females.

单胺氧化酶 A (MAOA) 催化儿茶酚胺的氧化脱氨。以前曾报道过 MAOA 基因启动子区域存在功能性变数串联重复 (VNTR) 多态性。在本研究中,我们测量了 90 名男性和 34 名女性日本尸检病例的血清肾上腺素(Adr)、去甲肾上腺素(Nad)和多巴胺(DA)水平,其中未检测到苯丙胺类药物或精神药物。我们检测了这些病例中 MAOA-uVNTR 等位基因的频率,并研究了 MAOA-uVNTR 多态性对血清 Adr、Nad 和 DA 水平的影响。评估结果表明,男性的 MAOA-uVNTR 多态性与血清 Adr、Nad 或 DA 水平无明显关联,但女性的 MAOA-uVNTR 多态性与血清 Adr 和 DA 水平有明显关联。具有 3/3 基因型的女性血清 Adr 和 DA 水平高于具有 4 个重复等位基因(3/4 和 4/4 基因型)的女性(p = 0.048 和 0.020)。在女性中,MAOA-uVNTR多态性与血清Nad水平之间没有明显的关联。本研究表明,MAOA-uVNTR多态性仅影响女性的血清Adr和DA水平。
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引用次数: 0
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