Abstract:
:Although Marfan syndrome has a range of characteristic morphological features involving the ocular, cardiovascular and musculoskeletal systems, the phenotype is variable. In addition, mutations have been identified in the gene encoding for fibrillin-1 and also in the transforming growth factor-beta receptor 2 (TGF-betaR2) gene. Two cases are presented of sudden and unexpected deaths in cousins who manifested morphologic features of Marfan syndrome at autopsy. Case 1: A 36-year-old male who collapsed and was found at autopsy to have arachnodactyly, a high arched palate and lethal aortic dissection with haemopericardium. Case 2: A 34-year-old male who collapsed and was found at autopsy to have arachnodactyly, a high arched palate, pes cavus and a dysplastic mitral valve. Current aetiological theories and molecular findings are discussed. While family follow-up and counselling are advised when cases come to autopsy, given the variability in phenotype and genotype, and the difficulties that exist in attempting to determine clinical prognosis from either of these, such deaths may raise more concerns for surviving family members than providing answers.
journal_name
J Forensic Leg Medjournal_title
Journal of forensic and legal medicineauthors
Hirani R,Koszyca B,Byard RWdoi
10.1016/j.jflm.2007.07.010subject
Has Abstractpub_date
2008-05-01 00:00:00pages
205-9issue
4eissn
1752-928Xissn
1878-7487pii
S1752-928X(07)00115-1journal_volume
15pub_type
杂志文章abstract::In medico-legal autopsies, establishing personal identity of the victims is often required. Estimation of stature from extremities and their parts plays an important role in identifying the dead in forensic examinations. The study examines the relationship between stature and dimensions of hands and feet among Rajputs...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jcfm.2006.10.008
更新日期:2007-08-01 00:00:00
abstract::The skull and pelvis have been used for the estimation of sex for unknown human remains. However, in forensic cases where skeletal remains often exhibit postmortem damage and taphonomic changes the patella may be used for the estimation of sex as it is a preservationally favoured bone. The goal of the present research...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2017.12.002
更新日期:2018-02-01 00:00:00
abstract::The forensic significance of genital injury following rape and sexual assault has been the subject of considerable academic and research interest, in terms of the contribution it may provide to the body of evidence in criminal proceedings. This essay takes a critical look at such research, in the context of modern und...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章,评审
doi:10.1016/j.jflm.2015.06.007
更新日期:2015-08-01 00:00:00
abstract::Paraphilic disorders range from nearly normal behaviour to a behaviour which may be considered as destructive or menacing to the society at large. In accordance with Diagnostic and Statistical Manual of Mental Disorders-V, the terms Paraphilia and Paraphilic disorders, denote different interpretations. Multiple paraph...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章,评审
doi:10.1016/j.jflm.2018.02.026
更新日期:2018-05-01 00:00:00
abstract:INTRODUCTION:Effectiveness and safety assessment for kinetic energy (KE) bullets is of importance, considering numerous reports about excessive damage cases of KE bullets in recent years. Early study of KE impacting targets mainly focused on threshold penetration issue, but did not involve cavity evolution of target an...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2019.07.009
更新日期:2019-10-01 00:00:00
abstract::Synthetic cannabinoids are drugs which are increasingly used by especially adolescents and young people. In recent years hospital admissions even concluding with deaths have been observed. Therefore, the awareness of medical students, who will be in challenge with this new drug abuse, is an important issue. The aim of...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2015.11.014
更新日期:2016-02-01 00:00:00
abstract::Recent publications argue that classic metaphyseal fractures are caused by rickets as opposed to trauma. Previous case reports of accidental traumatic classic metaphyseal fractures have been discounted due to lack of identification of the fracture at the time of the traumatic event, and lack of an evaluation for boney...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2015.07.005
更新日期:2015-10-01 00:00:00
abstract::While the physiologic effects of conducted electrical weapons (CEW) have been the subjects of numerous studies over nearly two decades, their effects on neurocognitive functioning, both short-term and long-term, have only recently been studied. In a 2014 study involving use-of-force scenarios, including a CEW scenario...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2017.11.001
更新日期:2018-01-01 00:00:00
abstract::Intimate partner violence (IPV) is a significant worldwide problem whose magnitude and risk factors vary across different settings and cultures. Nowadays, it is a priority to improve the knowledge on this issue in order to formulate better evidence-based policy responses. This study aims to contribute to a better unde...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2015.05.012
更新日期:2015-08-01 00:00:00
abstract::To explore the CT characteristics of orbital blowout fracture, we reviewed 76 cases with orbital blowout fracture and analyzed their clinical forensic characteristics. The missed diagnosis rate of cranial CT was 26.3%, and plain X-ray was 47.4%. The orbital CT examination has advantages in diagnosing orbital blowout f...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2007.12.010
更新日期:2009-01-01 00:00:00
abstract::The aim of the study was to assess interdoctorvariation and validity in death certification by forensic physicians using 19 written scenarios. The scenarios described typical cases from forensic-medical practice. Physicians were asked to determine the manner of death (natural/unnatural) and to provide an ICD-10 code f...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2016.07.005
更新日期:2016-10-01 00:00:00
abstract::Whether levels of fetal hemoglobin (HbF), a possible marker of antecedent hypoxemia, are increased in sudden infant death syndrome (SIDS) compared to controls is unresolved. Our aims are to: (1) Compare percent fetal hemoglobin (%HbF) levels in SIDS and control cases, and (2) compare our findings with those reported i...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2006.11.005
更新日期:2007-11-01 00:00:00
abstract:INTRODUCTION:Brainstem haemorrhage is common in cases of head injury when it is associated with space-occupying lesion and increases in the intracranial pressure (duret haemorrhage), in cases of diffuse axonal injury (in dorso-lateral quadrant) and diffuses vascular injury (in the periventricular tissue). However focal...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2011.12.015
更新日期:2012-04-01 00:00:00
abstract::Intimate partner violence (IPV) is an important cause of women's health and socio-familial severe problems, the most extreme being the victims' homicide. This is the first nationwide Portuguese autopsy-based and judicial-proven study about female intimate partner homicide. At least 62 women over 15 years old were kill...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2013.09.015
更新日期:2013-11-01 00:00:00
abstract::Ethanol determination in postmortem blood is one of the most frequently requested analyses in legal medicine and forensic toxicology. Ethyl glucuronide is a non-oxidative ethanol metabolite. It is also a useful marker of ante-mortem alcohol ingestion when ethanol itself has been completely eliminated from the body and...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2017.10.009
更新日期:2018-01-01 00:00:00
abstract::Interleukin-1 beta (IL-1β), IL-6, tumour necrosis factor-alpha (TNF-α) and epidermal growth factor (EGF) play important roles in the wound healing process. In the present study, human wound specimens (n = 50) were collected from cases of death due to injuries from firearms, penetrating trauma by sharp objects and blun...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2016.08.011
更新日期:2016-11-01 00:00:00
abstract::These days we have fast paced traffic on our roads to help us keep up with our fast paced life. But every boon has a down side and our high velocity traffic is no exception. Here is a case report of a blunt abdominal injury following a road traffic accident. Externally the deceased had only a few grazed abrasions on t...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2013.10.007
更新日期:2014-01-01 00:00:00
abstract::Paternity disputes and other forms of kinship testing are routinely resolved using short tandem repeat (STR) DNA loci. Sibship determination is encountered in instances where the DNA profiles of two individuals are compared to determine if they are siblings. If either parent is available for testing then the situation...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2007.12.018
更新日期:2008-07-01 00:00:00
abstract::Two cases of lethal gas embolism occurring in a hospital setting are presented. These did not differ with regards to the medical cause of death (MCOD), but did so with regard to the medico-legal cause of death (MLCOD). In the first case, the immediate recognition of a suspicious death and subsequent conservation of th...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2010.11.015
更新日期:2011-01-01 00:00:00
abstract::Air weapons whether rifles or pistols are, potentially, lethal weapons. The UK legislation is complex and yet little known to the public. Hunting with air weapons and the laws controlling those animals that are permitted to be shot with air weapons is even more labyrinthine due to the legal power limitations on the po...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2009.11.003
更新日期:2010-04-01 00:00:00
abstract::Giovanni Pico della Mirandola and Angelo Poliziano were two of the most important humanists of the Italian Renaissance. They died suddenly in 1494 and their deaths have been for centuries a subject of debate. The exhumation of their remains offered the opportunity to study the cause of their death through a multidisci...
journal_title:Journal of forensic and legal medicine
pub_type: 历史文章,杂志文章
doi:10.1016/j.jflm.2018.03.016
更新日期:2018-05-01 00:00:00
abstract::The antioxidant properties of the black and green tea are well known. The latent bloodstains are detectable by luminol. The bloodstains also can be cover up by drinks and foods containing the antioxidants; thus their presence can cause a decrease of the luminol light emission (false-negative results). The aim of this ...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2013.03.027
更新日期:2013-08-01 00:00:00
abstract::Intentional self-poisoning that is widely used all over the world is one of the most common methods of suicide. This study aim was to determine the rate of attempted intentional self-poisoning and to identify high risk persons in the west of Iran (Kermanshah). A total of 3138 people (1279 M and 1859 F) studied. The av...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2014.07.003
更新日期:2014-10-01 00:00:00
abstract::Hanging is one of the most lethal methods of suicide, where survival is an obvious rarity. Those who survive the initial act of hanging mostly suffer from hypoxic ischemic encephalopathy, and show some form of neurological damage. Intracranial haemorrhages are rarely associated with hanging. We report the first case o...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2018.02.019
更新日期:2018-04-01 00:00:00
abstract:BACKGROUND:Estimation of age of an individual can be performed by evaluating the pattern of dental development. A dataset for age estimation based on the dental maturity of a French-Canadian population was published over 35 years ago and has become the most widely accepted dataset. The applicability of this dataset has...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.jflm.2013.03.015
更新日期:2013-07-01 00:00:00
abstract:UNLABELLED:Falanga torture involves repetitive blunt trauma to the soles of the feet and typically leaves few detectable changes. Reduced elasticity in the heel pads has been reported as characteristic sequelae and palpatory testing of heel pad elasticity is therefore part of medicolegal assessment of alleged torture v...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2008.03.003
更新日期:2008-10-01 00:00:00
abstract::Mummification is a peculiar transformative process consisting of the total drying of the body soft tissues. It is produced, in particular conditions, between 6 and 12 months after death. "Precocious" mummification has been reported in countries where recorded weather conditions are more extreme than in Italy, in a con...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2012.06.013
更新日期:2013-02-01 00:00:00
abstract::Colchicum autumnale is commonly known as autumn crocus, and as 'gowri gedde' in the southern region of Karnataka State in South India. It contains an alkaloid called colchicine, which blocks the cell division by inhibiting mitosis. We present a sporadic case of suicidal plant poisoning wherein a 24-year-old man consum...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2011.04.008
更新日期:2011-08-01 00:00:00
abstract::Automatism is a rarely used defence, but it is particularly used for driving offences because many are strict liability offences. Medical evidence is almost always crucial to argue the defence, and it is important to understand the bars that limit the use of automatism so that the important medical issues can be ident...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2013.06.014
更新日期:2013-10-01 00:00:00
abstract::Magnetic resonance imaging (MRI) for forensic age estimation is among the research issues since it does not lead to radiation exposure. In this study, the ossification stage of the proximal humeral epiphysis was determined retrospectively in 178 male and 109 female individuals in the 12 to 30-year age group using 3.0 ...
journal_title:Journal of forensic and legal medicine
pub_type: 杂志文章
doi:10.1016/j.jflm.2020.102095
更新日期:2021-01-01 00:00:00