The Forensic Implications of Turner's Syndrome

Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may survive for many decades, premature and unexpected deaths can occur that bring decedents to the attention of forensic examiners. Causes of death in Turner's syndrome are often linked to underlying cardiovascular conditions such as aortic dissection, congenital cardiovascular disease, ischemic heart, and cerebrovascular disease, but deaths due to noncardiac causes also occur with increased frequency. The latter include epilepsy, diabetes mellitus, chronic renal disease, pneumonia, chronic liver disease, and malignancy. Thus, the autopsy evaluation of these cases requires careful examination of all major organ systems, with the consideration of confirmatory cytogenetic testing.     

Sudden Death in Marfan Syndrome

Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. The most serious complications of this syndrome are defects of the heart valves and aorta. Aneurysms of thoracic aorta are known to develop in Marfan syndrome. Other causes for development of aneurysms of the thoracic aorta are trauma, infections, valve and arch anomalies, genetic disorders, and atherosclerosis. These aneurysms upon rupture may lead to sudden deaths. They are usually detected during routine screening or follow‐up of such persons suffering from Marfan syndrome and upon death will be certified by the treating physician. Thus, an autopsy surgeon rarely comes across such deaths. One such case of sudden death due to cardiac tamponade consequent upon rupture of dissecting aortic aneurysm in a 33‐year‐old male who complained of throbbing pains in the chest, radiating to back, became breathless, cyanotic and died on the way to hospital is being presented here.     

Hippocampal Agenesis in an Individual who Engaged in Violent Criminal Behaviors After Discontinuing Carbamazepine and Paroxetine Treatment

Antidepressant discontinuation syndrome (ADS) occurs after abrupt discontinuation of an antidepressant medication. A 23‐year‐old man with right hippocampal agenesis demonstrated sexual crime (hypersexuality) since the age of eight and had been successfully treated with carbamazepine since the age of 13. He had required increased doses of paroxetine and carbamazepine owing to the development of an unstable affect after quitting his job. He abruptly stopped taking his medication for 3 days and his criminal behaviors re‐emerged. We examined changes in brain structure and activity before and after medication cessation, using MRI and functional MRI (fMRI). The image of a girl in a swimsuit increased activity in the thalamus only after medication discontinuation. The alteration in thalamic activity might induce hypersexuality. We conclude that a primary hypersexuality had been suppressed with carbamazepine and paroxetine treatment, and the discontinuation of the medication caused the hypersexuality.     

GPD1-L基因检测及其与青壮年猝死综合征的相关性

目的探寻甘油-3-磷酸脱氢酶样基因(glycerol-3-phosphate dehydrogenase 1 like gene,GPD1-L)的变异位点,讨论其与青壮年猝死综合征(sudden manhood death syndrome,SMDS)的关系。方法提取SMDS组及健康对照组血样的基因组DNA,采用PCR法扩增GPD1-L基因编码区外显子、外显子-内含子交界区以及3′侧翼区序列,直接进行DNA测序以明确遗传变异类型,并进行基因型频率和等位基因频率的统计学分析。结果在SMDS组中共检测到2个变异位点,c.465CT和c.*18GT,后者在SMDS组和对照组中基因型分布和等位基因频率存在一定差异,但无统计学意义(P0.05)。结论 GPD1-L基因变异与中国人SMDS发生的相关性尚有待进一步研究。     

产蛋下降综合征病毒PCR检测方法的建立

根据已报道的腺病毒DNA序列 ,设计合成了 1对核苷酸引物 ,引物间隔约 63 0bp。用该引物对EDS76病毒内蒙古分离株 (N3 ,N4 )和参考株 (AV 1 2 7)核酸进行聚合酶链式反应 (PCR)。结果 ,均扩增出了约 63 0bp的特异性DNA片段。所建立的PCR方法可检出 1 0 0pg的样品模板。结果表明 ,此PCR方法是检测EDS76病毒的一种简便快速、特异性强和灵敏度高的方法     

中药外用治疗膝关节骨性关节炎的临床观察

目的:观察中药外用治疗膝骨性关节炎的疗效.方法:将58例膝骨性关节炎患者随机分为治疗组(35例)和对照组(23例),治疗组采用中药外敷和熏洗,对照组内服芬必得,治疗6周后按JOA的膝骨性关节炎治疗效果判定标准进行打分评估.结果:治疗组优良率为85.7%,对照组优良率为82.6%.治疗组在改善关节屈曲角度及强直挛缩方面优于对照组(P<0.05),且没有内服药的不良反应.结论:中药外治法是非手术治疗膝骨性关节炎的一种可行方法.     

Divorce-Related Malicious Parent Syndrome

Divorce-Related Malicious Mother Syndrome was described originally by Turkat (1995). When this initial report was published, the disorder had been observed only in females. Recent case material has emerged which suggests that the abnormality may be gender neutral. To facilitate proper scientific investigation, the taxonomic label and diagnostic criteria have been changed accordingly. Divorce-Related Malicious Parent Syndrome is a significant clinical and legal problem, which remains in dire need of pertinent research and analysis.     

断奶猪多系统衰弱综合征血清抗体检测

从北京、河北、山东、天津、江西、吉林、河南7省(市)22个猪群采集各类猪血清样品559份,用猪圆环病毒Ⅱ型(PCVⅡ)克隆化特异性表达抗原包被反应板,采用ELISA检测断奶猪多系统衰弱综合征(PMWS)抗体.结果,20日龄未断奶仔猪阳性率为0(0/58)、1～2月龄断奶仔猪阳性率为16.5%(23/139),后备母猪阳性率为43.3%(61/141),经产母猪阳性率为85.6%(107/125),肥猪阳性率为51.0%(49/96),559头猪总阳性率为42.9%(240/559).检测临床有疑似PMWS症状的4～5月龄生长肥育猪6头,结果均为阳性;检测临床有疑似PMWS症状的1～2月龄仔猪9头,结果均为阴性.     

The Institution of a Standardized Investigation Protocol for Sudden Infant Death in the Eastern Metropole,Cape Town,South Africa,,

The rate for the sudden infant death syndrome (SIDS) in Cape Town, South Africa, is estimated to be among the highest in the world (3.41/1000 live births). In several of these areas, including those of extreme poverty, only sporadic, nonstandardized infant autopsy, and death scene investigation (DSI) occurred. In this report, we detail a feasibility project comprising 18 autopsied infants with sudden and unexpected death whose causes of death were adjudicated according to the 1991 NICHD definitions (SIDS, n = 7; known cause of death, n = 7; and unclassified, n = 4). We instituted a standardized autopsy and infant DSI through a collaborative effort of local forensic pathology officers and clinical providers. The high standard of forensic investigation met international standards, identified preventable disease, and allowed for incorporation of research. We conclude that an effective infant autopsy and DSI protocol can be established in areas with both high sudden unexpected infant death, and elsewhere. (SUID)/SIDS risk and infrastructure challenges.     

Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome

A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42‐year‐old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left‐sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman.