DUSP1 and KCNJ2 mRNA upregulation can serve as a biomarker of mechanical asphyxia-induced death in cardiac tissue

International Journal of Legal Medicine - The incidence of death by asphyxia is second to the incidence of death by mechanical injury; however, death by mechanical asphyxia may be difficult to...     

Digoxin,magnesium, and potassium levels in a forensic autopsy material of sudden death from ischemic heart disease

Summary In 91 cases where the cause of death was heart disease, digoxin, Mg and K concentrations in serum and ventricular myocardium were measured post mortem. Forty per cent were positive for digoxin in both serum and myocardium. The mean serum level was 5.1±2.4 nmol/l and the mean myocardial level was 42.6±27.5 ng/g. Correlation could be established between serum and myocardial concentrations of digoxin. There were statistically significant differences in serum as well as in myocardial digoxin levels in persons on 0.13 mg and 0.25 mg per day, respectively. Myocardial levels of Mg and K were low as generally found in persons with ischemic heart disease. There was no correlation between these levels and myocardial digoxin concentrations. Caution must be exercised in the assessment of digoxin results from cadaver samples because of the postmortem rise of digoxin serum concentrations. Considering this fact, the results still indicate that the prevalence of toxic digoxin concentrations might be more common than previously thought.     

Application of scanning electron microscopy in the auxiliary diagnosis of death caused by potassium chloride intravenous injection: a case report

International Journal of Legal Medicine - To determine the cause of death, in addition to routine autopsy, some assisted techniques are imperative to achieve a definite diagnosis. Herein, we report...     

Whole-exome sequencing and electrophysiological study reveal a novel loss-of-function mutation of KCNA10 in epinephrine provoked long QT syndrome with familial history of sudden cardiac death

Congenital long QT syndrome (LQTS) is one type of inherited fatal cardiac arrhythmia that may lead to sudden cardiac death (SCD). Mutations in more than 16 genes have been reported to be associated with LQTS, whereas the genetic causes of about 20% of cases remain unknown. In the present study, we investigated a four-generation pedigree with familial history of syncope and SCD. The proband was a 33-year-old young woman who experienced 3 episodes of syncope when walking at night. The electrocardiogram revealed a markedly epinephrine-provoked prolonged QT interval (QT = 468 ms, QTc = 651 ms) but no obvious arrhythmia in the resting state. Three family members have died of suspected SCD. Whole-exome sequencing and bioinformatic analysis based on pedigree revealed that a novel missense mutation KCNA10 (c.1397G＞A/Arg466Gln) was the potential genetic lesion. Sanger sequencing was performed to confirm the whole-exome sequencing results. This mutation resulted in the K_V1.8 channel amino acid residue 466 changing from arginine to glutamine, and the electrophysiological experiments verified it as a loss-of-function mutation of K_V1.8, which reduced the K⁺ currents of K_V1.8 and might result in the prolonged QT interval. These findings suggested that KCNA10 (c.1397G＞A) mutation was possibly pathogenic in this enrolled LQTS family, and may provide a new potential genetic target for diagnosis and counseling of stress-related LQTS families as well as the postmortem diagnosis of SCD.     

高原枪弹伤对伤道肌肉组织酶活性和物质消耗的影响

目的 探讨高原平战时枪弹伤对猪伤道肌肉组织酶活性和物质消耗的影响。方法将24头实验猪随机分为高原战时致伤组（GZ组）、高原平时致伤组（GP组）和平原平时致伤组（PP组）,分别于伤前、伤后不同时相点取伤道周围肌肉组织匀浆,定量测定Na^-K^-ATP酶、乳酸脱氢酶（LDH）、磷酸肌酸激酶（CK）、肌糖原（MG）、乳酸（LA）、游离无机磷（Pi^3＋）的含量。结果 （1）PP组伤后伤道肌肉组织酶活力降低和物质消耗的程度最轻、发生晚、恢复早而快;（2）GP组伤后伤道肌肉组织酶活力降低和物质消耗程度＞PP组而＜GZ组;（3）GZ组伤后伤道肌肉组织酶活力降低和物质消耗程度显著大于GP组,且出现早、恢复慢。结论 高原猪肢体枪弹伤后,各组伤道肌肉组织酶活力降低和物质消耗的程度依次为：GZ＞GP＞PP。因此,对高原枪弹战伤应注意对机体各种营养物质的补充和酶活力的保护。     

Determination of cocaine and its major metabolite benzoylecgonine in several matrices obtained from deceased individuals with presumed drug consumption prior to death

In the field of forensic toxicology, femoral blood is the most useful sample for the determination and quantification of drugs; however, cases in which blood is unavailable are common. In such cases, validated methodologies for drug determination in alternative matrices can be decisive in the investigation of a case. In particular, when femoral blood is unavailable for analysis for the presence of systemic exposure to cocaine and its principal metabolite, benzoylecgonine, validated methodologies from matrices other than blood that can be obtained in the autopsy room would be useful to the forensic toxicologist in the evaluation of a specific forensic case. To address this issue, we implemented and compared in our study the systematic evaluation of extraction, chromatographic separation, and quantification of cocaine and benzoylecgonine in different biological matrices (right and left cardiac blood, femoral arterial and venous blood, urine, vitreous humor, cerebrospinal fluid, brain accumbens nucleus, brain ventral tegmental area, and liver). The studied matrices were those most likely to be obtained from different autopsy rooms at the time of forensic testing in deceased individuals who are presumed of antemortem drug consumption. Solid phase extraction of analytes from the different matrices was performed using C-8/SCX mixed-phase columns, and gas chromatographic mass spectrometry separation was performed using detection in single-ion monitoring mode. The methodological validation was performed for all the studied matrices, and the results showed similar sensitivity and recoveries without statistical differences between the studied matrices. The methods were applied to evaluate a thanatological case using all the study matrices, showing unequal postmortem distribution of cocaine and benzoylecgonine throughout the different matrices tested. The present work opens the option of applying appropriate methodologies in the analysis of matrices, other than the usual blood, to obtain reliable results that may help clarify a forensic case. In addition, we present findings from different studies. This work affirms not only the potentiality of obtaining reliable data but also reaffirms the challenge of applying these data and taking into account the complexity of interpreting results in matrices other than blood.     

Change in the proton T1 of fat and water in mixture

This work describes observed changes in the proton T₁ relaxation time of both water and lipid when they are in relatively homogeneous mixtures. Results obtained from vegetable oil–water emulsions, pork kidney and lard mixtures, and excised samples of white and brown adipose tissues are presented to demonstrate this change in T₁ as a function of mixture fat fraction. As an initial proof of concept, a simpler acetone‐water experiment was performed to take advantage of complete miscibility between acetone and water and both components' single chemical shift peaks. Single‐voxel MR spectroscopy was used to measure the T₁ of predominant methylene spins in fat and the T₁ of water spins in each setup. In the vegetable oil–water emulsions, the T₁ of fat varied by as much as 3‐fold when water was the dominant mixture component. The T₁ of pure lard increased by 170 msec (+37%) when it was blended with lean kidney tissue in a 16% fatty mixture. The fat T₁ of lipid‐rich white adipose tissue was 312 msec. In contrast, the fat T₁ of leaner brown adipose tissue (fat fraction 53%) was 460 msec. A change in the water T₁ from that of pure water was also observed in the experiments. Magn Reson Med, 2010. © 2009 Wiley‐Liss, Inc.     

The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood

IntroductionSudden cardiac death (SCD) in the young is rare and should always lead to suspicion of a genetic cardiac disorder. We describe a family, in which the proband was a girl deceased by sudden cardiac death in the playground at thirteen years of age. The index-patient had short stature, cleft palate but no previous cardiac symptoms. We found an uncommon cause of cardiomyopathy, due to a congenital disorder of glycosylation (CDG), previously described to cause a variable range of usually mild symptoms, and not previously found to cause SCD as the first symptom of the condition.MethodsThe index patient underwent postmortem genetic testing/molecular autopsy for genes known to cause SCD, without a detection of causative agent, why two siblings of similar phenotype as the deceased sister underwent clinical-exome genetic sequencing (next generation sequencing). All first-degree relatives underwent clinical examination including cardiac ultrasound, Holter-ECG, exercise stress test and biochemistry panel.ResultsA genetic variant in the gene for phosphoglucomutase 1 (PGM1) was identified in the index patient and her two brothers, all were found to be homozygous for the genetic variant (G230E) NM_002633.2:c.689 G > A in PGM1. This variant has been linked to a congenital disorder of glycosylation (PGM1-CDG), explaining the clinical picture of short stature, cleft palate, liver engagement and cardiomyopathy. During follow-up one of the brothers died unexpectedly after physical exertion during daily life at the age of twelve years. The other brother fainted during similar circumstances at the age of thirteen years. Both parents and three other siblings were found to be heterozygous gene carriers without risk for the disease.ConclusionOur findings suggest that there is a need of multidisciplinary discussion and genetic testing after unexpected cardiac death in the young. We have to be more flexible in our evaluation of diseases and to consider even uncommon diseases including rare recessive inherited disorders. Our findings also suggest that the autosomal recessive PGM1-CDG might be highly associated with life-threatening cardiomyopathy with arrhythmia or sudden cardiac death as the first symptom presenting from childhood and adolescence.     

Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant

A case of sudden infant death with histiocytoid cardiomyopathy and ventricular non-compaction was investigated with immunohistochemical methods. Histiocytoid cardiomyopathy is thought to be a developmental defect of the cardiomyocytes of the conduction system. In contrast to mature cardiomyocytes, the histiocytoid cells showed only weak reactions to desmin and myosin antibodies. They lacked cross-striation but reacted strongly to enolase and myoglobin antibodies. The protein Pax-7, seen only in cells undergoing differentiation, and the proliferation marker Ki-67 were not expressed in the histiocytoid cells. In areas of altered myocardium, clusters of CD4-, CD8-, and CD68-positive inflammatory cells were seen as well an abundance of mast cells. With the TUNEL method, it was found that many of the histiocytoid cells were undergoing apoptosis. Our results confirm that the histiocytoid cells are defective cardiomyocytes. The apoptotic and inflammatory changes point to a degenerative process rather than defective maturation of cardiomyocytes as has been suggested in some earlier studies. Ventricular non-compaction is a developmental defect of the subendocardial tissue with hypertrabeculation and weak development of the papillary muscles. Only one case combined with histiocytoid cardiomyopathy has been described previously. A causal connection between the two conditions cannot be established until more cases have been analyzed.     

Sudden death in a teaching hospital of the Wuxi area: a retrospective autopsy study

Sudden death (SD) has a great impact on the medical community and on society in general. The aim of this study was to investigate the autopsy causes and associated pathological characteristics of SD in a teaching hospital of the Wuxi area and to discuss suitable methods for diagnosis and prophylaxis. In this retrospective study, data were collected from 134 SD patients. Ancillary studies covering histology and toxicology were also performed and analysed for the presence of risk factors. The subjects included 94 men and 40 women (M:F ratio = 2.35:1; P < 0.05). The peak age was 20–39?years, accounting for 32.1% (43 cases) of the total number of cases. The most common cause of SD in all cases was cardiovascular disease (n = 79, 59.0%). Cases in which coronary atherosclerotic heart disease was the prime culprit were named sudden cardiac death (SCD). Other causes of death included respiratory disease, neurological disease, and other diseases. Sudden death causes are numerous. This study aims to help prevent SD and to improve the processes of diagnosis and prevention. The results of completely accurate autopsies are necessary, in order to encourage epidemiological and preventive studies on sudden death.     

Exploration of the microbiome community for saliva,skin, and a mixture of both from a population living in Guangdong

International Journal of Legal Medicine - The identification of biological traces provides vital evidence in forensic reconstruction at crime scenes, especially in sexual offences. Compared with...     

Sudden death in a child caused by a giant cavernous hemangioma of the anterior mediastinum

A 4-year-old girl who had been treated for asthma since the age of 2 years had a severe coughing fit and died suddenly. The patient had a history of occasional severe coughing fits, and these fits had been worsening in severity during the week before her death. Prior to death, she was taken to a clinician, and thymic hypertrophy was suspected based on chest X-ray findings. The clinician recommended that she visit a general hospital at a later date; however, she died that night. Postmortem radiology and autopsy revealed a large mass in the anterior mediastinum compressing the heart and airway, and no other findings attributable to sudden death were observed. Therefore, we concluded that the patient's death was attributable to acute respiratory and cardiac circulatory failure secondary to the pressure induced by the mass. Microscopically, the mass showed a cavernous structure composed of cystically dilated, thin-walled large vessels filled with blood. The final diagnosis was a cavernous hemangioma. Hemangiomas are the most common benign vascular anomalies seen in young children; however, mediastinal hemangiomas are rare and can cause life-threatening complications because of their size and location. Therefore, forensic pathologists should include hemangioma as a differential diagnosis in children with anterior mediastinal masses.     

丝线加明胶海绵栓塞部分脾脏治疗脾功能亢进

目的 :探讨部分脾栓塞术 (PSE)的临床应用 ,寻求经济而有效的栓塞剂 ,以提高脾栓塞疗效。方法 :11例继发性脾功能亢进者 ,均采用丝线 (1mm )、明胶海绵颗粒 (1～ 2mm3 )与对比剂充分混合进行栓塞 ,栓塞面积控制在 5 0 %～70 %。采集每次脾栓塞术前后相关资料 ,并进行对比。结果 :全部病例术后脾脏体积缩小 ,脾实质不同程度坏死 ,脾动脉血流量减少约 5 0 % ;术后第 3天外周血白细胞、血小板计数均升至正常范围 ,1年后除 1例死于肝功能衰竭外 ,其余 10例仍稳定在正常范围。临床有效率达 10 0 %。结论 :该方法治疗脾功能亢进 ,经济实用 ,疗效明显 ,值得推广应用。     

Total allergen-specific IgE antibodies in the serum and skin reactivity induced by a mixture of pollens in allergic individuals

Skin puncture test is fast and precise method for revealing IgE-mediated allergen hypersensitivity. In the diagnosis of pollinosis and other atrophic diseases, expensive tests for revealing the allergen-specific IgE antibodies in the serum are frequently inaccessible. The subject of our investigation was how and if the skin test with mixture of pollen could replace the expensive in-vitro method in diagnostic procedure. In 41 patients with pollinosis were performed skin tests by the mixture of pollen of grass, weeds and trees (produced by Torlak Institute, Belgrade) and determined the concentration of overall and allergen-specific IgE serum (EIA, enzyme immuno-assay, Pharmacia Uppsala; RAST Phadesim, multidisk, Pharmacia). Obtained results pointed out that the sex of investigated subjects did not influence the size of skin reaction in case when the pollen mixture (grass, weed or trees) was used. With high significance rate was established that in skin puncture test, just the size of the reaction, defined by 5 mm papule or larger, indicated the hypersensitive person. We consider that this can be taken as the diagnostic criterion and replace in-vitro method for determination of allergen-specific IgE antibodies in serum. Also, overall IgE of serum positively correlated (p < 0.05) with the size of skin reaction only in the persons with extremely high concentrations (RAST class 4) allergen-specific IgE antibodies in serum.     

某医院抗菌药物的使用量与革兰阴性杆菌的耐药状况分析

 目的 分析北京某医院2013-01至2015-12常用抗菌药物消耗量及与常见革兰阴性杆菌的耐药状况,为临床医生合理使用抗菌药物,遏制细菌耐药性的增长提供参考。方法 选择2013-01至2015-12北京某综合性医院住院患者常用抗菌药物,利用医院计算机管理软件检索13种常用抗菌药物的品种、出库量、金额,回顾性分析各类抗菌药物的用药频度与耐药状况。结果 3年来,青霉素类、头孢菌素类、氨基糖苷类,以及喹诺酮类抗生素使用量都呈现不同程度下降,而碳青霉烯类与头孢菌素+酶抑制剂的使用量却在上升;4种常见革兰阴性杆菌对于阿莫西林的耐药率最高,均在90%以上,对头孢呋辛的耐药率也在60%以上。对于头孢哌酮舒巴坦的耐药率最低,其对4种常见革兰阴性杆菌均敏感。对于碳青霉烯类、阿米卡星、头孢西丁、头孢他啶及头孢吡肟也有较高的敏感性,除鲍曼不动杆菌外,对其他三种耐药菌均有一定的敏感性。结论 抗菌药物的广泛使用或不合理应用可加速细菌耐药的产生速度;而合理规范使用抗菌药物则有助于延缓细菌耐药性的发展。我院临床分离细菌对常用抗菌药物的耐药性仍不容乐观,为了减少医院感染的发生,我们应当加强抗菌药物的使用管理。     

Effects of intracarotid ionic and non-ionic contrast material on the blood-brain barrier in a rabbit model

Summary A rabbit model was used to assess the effects of intracarotid injections of ionic monomer (meglumine iothalamate), non-ionic monomer (iohexol, iopromide), and non-ionic dimer (iotrol) contrast materials on the blood-brain barrier. The degree of blood-brain barrier damage was assessed qualitatively using Evans' blue dye, and quantitatively by calculating the difference in pertechnetate uptake between injected and non-injected hemispheres. The results showed that the non-ionic dimer, iotrol, had the least effect on the blood-brain barrier, and that although iopromide and iohexol produced greater damage than iotrol, the ionic compound, meglumine iothalamate, caused the greatest disruption to the blood-brain barrier. The implications of these findings are discussed.     

Behaviour and fluxes of natural radionuclides in the production process of a phosphoric acid plant

In recent years there has been an increasing awareness of the occupational and public hazards of the radiological impact of non-nuclear industries which process materials containing naturally occurring radionuclides. These include the industries devoted to the production of phosphoric acid by treating sedimentary phosphate rocks enriched in radionuclides from the uranium series.With the aim of evaluating the radiological impact of a phosphoric acid factory located in the south-western Spain, the distribution and levels of radionuclides in the materials involved in its production process have been analysed. In this way, it is possible to asses the flows of radionuclides at each step and to locate those points where a possible radionuclide accumulation could be produced. A set of samples collected along the whole production process were analysed to determine their radionuclide content by both alpha-particle and gamma spectrometry techniques. The radionuclide fractionation steps and enrichment sources have been located, allowing the establishment of their mass (activity) balances per year.     

Sudden death by laryngeal polyp: a case report and review of the literature

Sudden unexpected death in the context of bizarre or unusual behavior usually relates to acute drug intoxication or excited delirium. We report the case of a man who died suddenly while running naked on a public street. Although the initial death investigation was indicative of excited delirium or drug intoxication, autopsy revealed glottic obstruction by an inflammatory laryngeal polyp. Toxicologic studies were negative and investigation revealed presentation at a hospital the day before death with stridor. It is believed he developed airway obstruction while dressing at home and ran out on the street to find assistance. This case illustrates the importance of a thorough death investigation and a broad differential diagnosis when approaching a forensic autopsy.