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1.
Int J Law Psychiatry ; 95: 102006, 2024 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-38972086

RESUMO

Following the French law n° 98-468 of 17 June 1998 relative to the prevention of sexual offenses and the protection of minors, social and judicial follow-up and court-ordered treatment were introduced with the aim of reinforcing the prevention of recidivism. Court-ordered treatment is one of the possible obligatory measures provided for by social and judicial follow-up. However, there is no consensus between the different professionals concerning the criteria of indication and the final purpose of this measure. Most of the few available studies are retrospective. Only rare studies have assessed the influence of criminological factors on the indication of court-ordered treatment. We carried out a nation-wide qualitative comparative study in two populations, psychiatric experts and sentencing judges, by means of e-mail questionnaires. The aim was to determine the criteria for court-ordered treatment according to psychiatric experts and to sentencing judges, to identify the criteria that gave rise to differences in appreciation between these professionals, and to attempt to explain these differences. The secondary aim of the study was to determine the methods and tools used in expert practice to evaluate dangerousness and risk of recidivism. We obtained 20 responses in each of the two populations. The great majority of psychiatric experts and sentencing judges considered that court-ordered treatment was appropriate when the offender presented with psychiatric dangerousness, and so with an underlying mental disorder. When a subject had no identified mental disorder, the psychiatrists were divided in their opinion, whereas the majority of sentencing judges were in favor of court-ordered treatment. Opinions differed particularly significantly between the two populations in four circumstances: a subject with an antisocial/psychopathic personality disorder, a subject who denied the alleged acts, the influence of precarious social circumstances and the influence of instability in intimate relationships. The majority of experts used international classifications (DSM-5 and ICD-10) as a basis for their psychiatric diagnosis. Just under half of those surveyed used structured or semi-structured interview guides and only a few stated that they used standardized actuarial tools to assess risk of recidivism. The concepts of care, dangerousness and mental disorder are associated with multiple representations that certainly play a part in the disagreements between the different professionals. It is of prime importance to define these concepts more clearly in order to encourage the use of a common language and to clarify the indications and purpose of court-ordered treatment. We also hypothesize that disagreements between professionals regarding the criteria for court-ordered treatment may be related to certain difficulties raised by the management of the convicted person. The development of guidelines that could be used by all professionals would help to reduce some of these difficulties. Psychiatric experts remain attached to clinical evaluation. Their limited use of assessment tools may relate to the material constraints and time constraints involved. The issue at stake in court-ordered treatment and social and judicial follow-up is to promote cooperation between the various professionals by creating a space for exchange of ideas where the fundamental questions raised by these measures can be discussed, fears shared and knowledge pooled.

2.
Diagnostics (Basel) ; 14(13)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-39001296

RESUMO

BACKGROUND: Cardiac injury caused by a sharp object is a medical and surgical therapeutic challenge. Mortality risk factors have been identified but there are major discrepancies in the literature. The aim of this study was to analyse the management of victims of penetrating cardiac injuries before and after admission to hospital and the anatomical characteristics of these injuries in order to facilitate diagnosis of the most critical patients. METHODS: To carry out this study, we conducted a retrospective analytical study with epidemiological data on victims of penetrating cardiac injuries. We included two types of patients, with those who underwent autopsy in our institution after death from sharp injury to the heart or great vessels and those who survived with treatment in the emergency department or intensive care unit between January 2015 and February 2022. RESULTS: We included 30 autopsied patients and 12 survivors aged between 18 and 73 years. Higher mortality was associated with prehospital or in-hospital cardiorespiratory arrest (OR = 4, CI [1.71-9.35]), preoperative mechanical ventilation (OR = 10, CI [1.53-65.41]), preoperative catecholamines (OR = 7, CI [1.12-6.29]), preoperative and perioperative adrenaline (OR = 13, CI [1.98-85.46] and [1.98-85.46]), penetrating cardiac injury (OR = 14, CI [2.10-93.22]), multiple cardiac injuries (OR = 1.5, CI [1.05-2.22]) and an Organ Injury Scaling of the American Association for the Surgery of Trauma (AAST-OIS) score of 5 (OR = 2.9, CI [1.04-8.54]; p = 0.0329) with an AUC-ROC curve value of 0.708 (CI [0.543-0.841]). CONCLUSIONS: This study identified risk mortality factors in penetrating cardiac injury patients. These findings can help improve the diagnosis and management of these patients. The AAST-OIS score may be a good tool to diagnose critical patients.

3.
Leg Med (Tokyo) ; 70: 102465, 2024 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-38838409

RESUMO

Identification of Traumatic axonal injury (TAI) is critical in clinical practice, particularly in terms of long-term prognosis, but also for medico-legal issues, to verify whether the death or the after-effects were attributable to trauma. Multidisciplinary approaches are an undeniable asset when it comes to solving these problems. The aim of this work is therefore to list the different techniques needed to identify axonal lesions and to understand the lesion mechanisms involved in their formation. Imaging can be used to assess the consequences of trauma, to identify indirect signs of TAI, to explain the patient's initial symptoms and even to assess the patient's prognosis. Three-dimensional reconstructions of the skull can highlight fractures suggestive of trauma. Microscopic and immunohistochemical techniques are currently considered as the most reliable tools for the early identification of TAI following trauma. Finite element models use mechanical equations to predict biomechanical parameters, such as tissue stresses and strains in the brain, when subjected to external forces, such as violent impacts to the head. These parameters, which are difficult to measure experimentally, are then used to predict the risk of injury. The integration of imaging data with finite element models allows researchers to create realistic and personalized computational models by incorporating actual geometry and properties obtained from imaging techniques. The personalization of these models makes their forensic approach particularly interesting.

5.
Forensic Sci Int ; 356: 111952, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38350415

RESUMO

Finite element modeling provides a digital representation of the human body. It is currently the most pertinent method to study the mechanisms of head injury, and is becoming a scientific reference in forensic expert reports. Improved biofidelity is a recurrent aim of research studies in biomechanics in order to improve earlier models whose mechanical properties conformed to simplified elastic behavior and mechanic laws. We aimed to study force transmission to the brain following impacts to the head, using a finite element head model with increased biofidelity. To the model developed by the Laboratory of Applied Biomechanics of Marseille, we added new brain structures (thalamus, central gray nuclei and ventricular systems) as well as three tracts involved in the symptoms of head injury: the corpus callosum, uncinate tracts and corticospinal tracts. Three head impact scenarios were simulated: an uppercut with the prior model and an uppercut with the improved model in order to compare the two models, and a lateral impact with an impact velocity of 6.5 m/s in the improved model. In these conditions, in uppercuts the maximum stress values did not exceed the injury risk threshold. On the other hand, the deep gray matter (thalamus and central gray nuclei) was the region at highest risk of injury during lateral impacts. Even if injury to the deep gray matter is not immediately life-threatening, it could explain the chronic disabling symptoms of even low-intensity head injury.


Assuntos
Traumatismos Craniocerebrais , Substância Cinzenta , Humanos , Cabeça , Encéfalo , Fenômenos Biomecânicos , Análise de Elementos Finitos
6.
Int J Legal Med ; 138(1): 301-306, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36773089

RESUMO

All unexpected deaths of children require an autopsy to determine the cause of death. In cases of aortic rupture, the immediate cause of death is easily identified at autopsy. Although the majority of aortic ruptures are caused by high-energy trauma, other causes should not be missed.We present and discuss the case of a 29-month-old child who died suddenly at home. Her recent medical history and the ecchymotic lesions observed on external examination of the body appeared potentially suspicious of physical abuse. The autopsy concluded that death was due to complete rupture of the abdominal aorta with associated vertebral disjunction. At first glance, the overall forensic picture could suggest a traumatic death. However, careful inspection of the retroperitoneum revealed a discrete atypical mass of infiltrative tissue within the hematoma. Histopathological examinations confirmed tumor proliferation of the soft tissues, triggering vascular and spinal injuries. Other paraneoplastic elements or metastases were ultimately revealed (orbital and subcutaneous). Overall, this was a rare and fatal case of abdominal aortic rupture induced by tumors. Due to the mechanisms and the forces needed to cause vertebral dislocations and aortic rupture, the combination of the two is highly suggestive of child abuse when an accidental traumatic history is absent or inconsistent with the injuries. Nevertheless, this case illustrates the importance of a systematic and rigorous forensic examination, rather than ignoring other possible diagnoses.


Assuntos
Ruptura Aórtica , Maus-Tratos Infantis , Humanos , Criança , Feminino , Pré-Escolar , Ruptura Aórtica/patologia , Morte Súbita/etiologia , Morte Súbita/patologia , Maus-Tratos Infantis/diagnóstico , Autopsia
7.
J Forensic Sci ; 69(2): 574-583, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38083832

RESUMO

Since 2017, complaints of sexual violence have increased in France. At the same time, the management of sexual offenders has been at the center of international public health policies. The prevalence of mental disorders among sexual offenders is an essential field of research. There are some published studies on the prevalence of psychiatric disorders in sexual offenders in detention, but there are few recent published studies among French individuals who were detained. Our objectives were to determine the prevalence of psychiatric disorders among persons detained for sexual offenses and the level of care received according to their diagnosis. For this purpose, we carried out a retrospective observational study from January 2017 to October 2021 of all adult sexual offenders, whether accused or convicted, who were seen in the psychiatric consultation unit of Les Baumettes prison, Marseille, France. The primary outcome measure was the psychiatric diagnosis entered in the medical records. One hundred forty-two patients were included in analysis. All patients were men, and the majority (n = 97, 68.3%) of these patients presented with at least one psychiatric disorder, principally a personality disorder (31.7%). 10.6% presented with a schizophrenic disorder, 4.9% a bipolar disorder, 3.5% a depressive disorder, 5.6% pedophilic paraphilia, and 25.4% an addictive disorder. Their management and comorbid addictions were analyzed in subgroups for each psychiatric disorder. Patients appeared to receive an appropriate level of care for their diagnosed disorder. It seems important to develop structured assessment of recidivism risk for better management of sexual offenders.


Assuntos
Criminosos , Transtornos Mentais , Prisioneiros , Delitos Sexuais , Masculino , Adulto , Humanos , Feminino , Prisões , Prisioneiros/psicologia , Transtornos Mentais/epidemiologia , Transtornos Mentais/terapia , Transtornos Mentais/diagnóstico , Delitos Sexuais/psicologia
9.
Leg Med (Tokyo) ; 59: 102140, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36044807

RESUMO

Penetrating craniocerebral injuries caused by a bladed weapon are rare events in western countries and often occur in the course of assault. We studied all homicide-related cases of cranial and brain injuries caused by bladed weapons that were seen at the Medicolegal Institute of Marseille over a 5-year period from 2014 to 2019. We found that such injuries are exceptional. The majority occur in the private sphere and are inflicted by men, as they require considerable force. They are rarely isolated but are accompanied by multiple cutting injuries of the thorax and abdomen. Such assaults leave imprints on the bone that can be analyzed using new anthropological techniques.


Assuntos
Traumatismos Craniocerebrais , Vítimas de Crime , Traumatismo Múltiplo , Ferimentos Penetrantes , Masculino , Humanos , Homicídio , Armas , Traumatismos Craniocerebrais/etiologia
10.
Rev Prat ; 72(4): 371-374, 2022 Apr.
Artigo em Francês | MEDLINE | ID: mdl-35638977

RESUMO

Loss of chance in compensation for non-accidental bodily injury: inventory The main problem with this notion is the hypothetical nature of the loss of chance, insofar as it is impossible to take for sure if the hoped-for event would actually haved occurred. This this is the main difficulty encountered when estimating a loss of chance. The aim of this work is to identify a number of tools that will serve as a basis for the assessment of loss of chance damage. The contribution of data from the literature, the use of abacuses depending on the terrain and the pathology and the contribution of sapients will be described. The calculation methodology will also be discussed in the context of the cumulative loss of chances suffered by the patient.


Perte de chance en réparation du préjudice corporel hors accident : état des lieux La problématique de la notion de perte de chance est son caractère hypothétique, dans la mesure où il est impossible de savoir avec certitude si le fait espéré se serait réellement réalisé. C'est là toute la difficulté qui incombe au calcul de la perte de chance. Il est cependant possible de distinguer ou d'envisager un certain nombre de moyens permettant d'évaluer le préjudice de perte de chance. Les données de la littérature, les abaques, en fonction du terrain et de la pathologie, et les experts y contribuent. La méthodologie de calcul, dans le cadre du cumul de pertes de chances subies par le patient, mérite aussi d'être discutée.


Assuntos
Probabilidade , Humanos
11.
Ann Pathol ; 42(5): 432-437, 2022 Oct.
Artigo em Francês | MEDLINE | ID: mdl-34980475

RESUMO

We report the case of an infant aged 8 and a half months, who had an apparent life-threatening event and died despite optimal resuscitation management. The medical history was marked by mild symptoms, mainly feeding difficulties and progressively settling skin lesions. Parents were related (first cousins) and the patient had two healthy older sisters. Autopsy showed growth delay, symmetrical erythematous and ulcerated periorificial lesions associated with punctiform erythematous lesions of the face and alopecia. Microscopic examination revealed deep bronchial inhalation with the onset of infectious pneumopathy, major inflammatory ulceration of the gastrointestinal tract, hepatic steatosis, brain stem and pancreas abnormalities. We conclude that the cause of death was a multi-visceral failure with inhalation pneumopathy, in a context of very early onset inflammatory bowel disease (VEO-IBD). Genetic consultation, into a rare disease reference center, allowed to orient the analysis, to identify a homozygous pathogenic variant in the IL10RA gene, confirming the diagnostic of an autosomal recessive very early onset inflammatory bowel disease (inflammatory bowel disease 28, early-onset, autosomal recessive, #613148).


Assuntos
Doenças Inflamatórias Intestinais , Idade de Início , Humanos , Lactente , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/diagnóstico
12.
Front Med (Lausanne) ; 8: 663708, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34552938

RESUMO

Coronavirus disease 2019 (COVID-19) is now at the forefront of major health challenge faced globally, creating an urgent need for safe and efficient therapeutic strategies. Given the high attrition rates, high costs, and quite slow development of drug discovery, repurposing of known FDA-approved molecules is increasingly becoming an attractive issue in order to quickly find molecules capable of preventing and/or curing COVID-19 patients. Cyclosporin A (CsA), a common anti-rejection drug widely used in transplantation, has recently been shown to exhibit substantial anti-SARS-CoV-2 antiviral activity and anti-COVID-19 effect. Here, we review the molecular mechanisms of action of CsA in order to highlight why this molecule seems to be an interesting candidate for the therapeutic management of COVID-19 patients. We conclude that CsA could have at least three major targets in COVID-19 patients: (i) an anti-inflammatory effect reducing the production of proinflammatory cytokines, (ii) an antiviral effect preventing the formation of the viral RNA synthesis complex, and (iii) an effect on tissue damage and thrombosis by acting against the deleterious action of angiotensin II. Several preliminary CsA clinical trials performed on COVID-19 patients report lower incidence of death and suggest that this strategy should be investigated further in order to assess in which context the benefit/risk ratio of repurposing CsA as first-line therapy in COVID-19 is the most favorable.

13.
PLoS One ; 16(9): e0255890, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34492029

RESUMO

OBJECTIVE: To determine whether bladder size is associated with an unfavorable neonatal outcome, in the case of first-trimester megacystis. MATERIALS AND METHODS: This was a retrospective observational study between 2009 and 2019 in two prenatal diagnosis centers. The inclusion criterion was an enlarged bladder (> 7 mm) diagnosed at the first ultrasound exam between 11 and 13+6 weeks of gestation. The main study endpoint was neonatal outcome based on bladder size. An adverse outcome was defined by the completion of a medical termination of pregnancy, the occurrence of in utero fetal death, or a neonatal death. Neonatal survival was considered as a favorable outcome and was defined by a live birth, with or without normal renal function, and with a normal karyotype. RESULTS: Among 75 cases of first-trimester megacystis referred to prenatal diagnosis centers and included, there were 63 (84%) adverse outcomes and 12 (16%) live births. Fetuses with a bladder diameter of less than 12.5 mm may have a favorable outcome, with or without urological problems, with a high sensitivity (83.3%) and specificity (87.3%), area under the ROC curve = 0.93, 95% CI (0.86-0.99), p< 0.001. Fetal autopsy was performed in 52 (82.5%) cases of adverse outcome. In the 12 cases of favorable outcome, pediatric follow-up was normal and non-pathological in 8 (66.7%). CONCLUSION: Bladder diameter appears to be a predictive marker for neonatal outcome. Fetuses with smaller megacystis (7-10 mm) have a significantly higher chance of progressing to a favorable outcome. Urethral stenosis and atresia are the main diagnoses made when first-trimester megacystis is observed. Karyotyping is important regardless of bladder diameter.


Assuntos
Duodeno/anormalidades , Doenças Fetais/patologia , Diagnóstico Pré-Natal/métodos , Bexiga Urinária/anormalidades , Adulto , Duodeno/diagnóstico por imagem , Duodeno/patologia , Feminino , Doenças Fetais/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Cariotipagem , Gravidez , Resultado da Gravidez , Primeiro Trimestre da Gravidez , Prognóstico , Curva ROC , Estudos Retrospectivos , Taxa de Sobrevida , Ultrassonografia Pré-Natal/métodos , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/patologia
14.
Eur J Med Genet ; 64(10): 104294, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34352414

RESUMO

Cytoplasmic aminoacyl-tRNA synthetases (ARSs) are emerging as a cause of numerous rare inherited diseases. Recently, biallelic variants in tyrosyl-tRNA synthetase 1 (YARS1) have been described in ten patients of three families with multi-systemic disease (failure to thrive, developmental delay, liver dysfunction, and lung cysts). Here, we report an additional subject with overlapping clinical findings, heterozygous for two novel variants in tyrosyl-tRNA synthetase 1 (NM_003680.3(YARS1):c.176T>C; p.(Ile59Thr) and NM_003680.3(YARS1):c.237C>G; p.(Tyr79*) identified by whole exome sequencing. The p.Ile59Thr variant is located in the highly conserved aminoacylation domain of the protein. Compared to subjects previously described, this patient presents a much more severe condition. Our findings support implication of two novel YARS1 variants in these disorders. Furthermore, we provide evidence for a reduced protein abundance in cells of the patient, in favor of a partial loss-of-function mechanism.


Assuntos
Deficiências do Desenvolvimento/genética , Insuficiência de Crescimento/genética , Hepatopatias/genética , Pneumopatias/genética , Tirosina-tRNA Ligase/genética , Deficiências do Desenvolvimento/patologia , Insuficiência de Crescimento/patologia , Feminino , Humanos , Lactente , Hepatopatias/patologia , Mutação com Perda de Função , Pneumopatias/patologia
15.
Int J Legal Med ; 135(6): 2395-2408, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34383117

RESUMO

Neonaticide is defined by the deliberate killing or homicide of a child within 24 h of its birth. In this context, three fundamental questions are generally asked of the forensic pathologist: what is the cause of death of the neonate? Was the child viable (i.e., what is the gestational age of the neonate)? Finally, was the neonate stillborn or liveborn?Postmortem imaging can help answer these questions by conducting (1) a complete lesional analysis of the body and the placenta, (2) an estimation of the gestational age by measuring the lengths of the diaphyseal long bones, and (3) an analysis of the aeration of the lungs and intestines. Using the details of 18 cases, we illustrate aspects of neonaticide cases in postmortem computed tomography (PMCT), offering detailed examples of notable postmortem changes and abnormalities, especially in the analysis of the pulmonary parenchyma. This article presents a useful iconography for the radiologist confronted with this rare yet complex forensic situation.


Assuntos
Patologia Legal , Recém-Nascido/fisiologia , Infanticídio , Tomografia Computadorizada por Raios X , Autopsia/instrumentação , Causas de Morte , Feminino , Idade Gestacional , Humanos , Masculino , Mudanças Depois da Morte
16.
Leg Med (Tokyo) ; 52: 101909, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34062367

RESUMO

The regions of Provence-Alpes-Côte d'Azur and Corsica in south-east France are regularly affected by firearm deaths, and a large amount of data has been collected by our forensic institute. We carried out a single-center retrospective descriptive study of the records of our institute between January 1, 2011, and 31 December, 2018, relating to firearm deaths (homicides and suicides). There were 302 cases (218 homicides and 84 suicides). The anatomic locations most frequently involved were the thorax, abdomen and head, in that order, in homicides and the head in suicides. More than 80% of the homicides in our series had more than one wound complex and nearly one in four homicides had more than 7. The weapon most frequently used in suicides was a hunting smooth bore gun, followed by the 9mm Luger and then by the .22 Long Rifle. In homicides, the caliber most frequently used was the 7.62 × 39 (29.6%), followed by the 9mm Luger (29%) and lastly by hunting calibers (27%). More than 10% of cases involved two weapons of two different calibers. Our study, which used a dual forensic and ballistic approach, was carried out in one of the most heavily populated regions of metropolitan France. We observed very few similarities with the literature regarding type of caliber and wound complexes. This may be explained, among other factors, by differences in political, societal or cultural contexts.


Assuntos
Armas de Fogo , Homicídio , Suicídio , Ferimentos por Arma de Fogo , Medicina Legal , Humanos , Estudos Retrospectivos
17.
Leg Med (Tokyo) ; 49: 101846, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33497971

RESUMO

INTRODUCTION: Minor head trauma in the child, whether accidental or inflicted, is a frequent reason for seeking medical attention. Our aim is to describe the characteristics of minor head trauma in children aged 0-3 years and the resulting injuries. This in order to help the clinician to suspect and thelegal expert to confirm intentional abuse. STUDY DESIGN: Children aged from 0 to 3 years with minor head trauma and attending the pediatric emergency department were included in the study between January 2013 and June 2014. The correlation between the characteristics of trauma and the resulting injuries was analyzed using a prospective data collection questionnaire completed by the physicians who cared for the child. RESULTS: A total of 709 children with minor head trauma were included in the study. In nearly 90% of cases, fall height was less than 1 m. Only one-third of children aged less than 6 months had external head injury. Low-intensity trauma, such as a low-velocity fall from a height of less than 1.5 m does not cause intracranial injury. External injuries were more frequent in children who had a fall with an anterior impact, while internal injuries were found only in posterior and lateral impacts. CONCLUSION: In the context of minor head trauma, the physician must be vigilant and must ask for a full and clear description of the trauma, its mechanisms and other characteristics, when external or internal head injuries are observed in children aged less than 6 months.


Assuntos
Acidentes por Quedas , Maus-Tratos Infantis , Traumatismos Craniocerebrais/etiologia , Serviço Hospitalar de Emergência , Fatores Etários , Pré-Escolar , Traumatismos Craniocerebrais/epidemiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Feminino , Medicina Legal , Humanos , Lactente , Masculino , Médicos , Estudos Prospectivos , Inquéritos e Questionários , Índices de Gravidade do Trauma
18.
Ann Pathol ; 41(1): 4-8, 2021 Feb.
Artigo em Francês | MEDLINE | ID: mdl-33039153

RESUMO

The use of videoconferencing had increased significantly during lockdown. During this period, videoconferencing has been used in the pathological department of pathology (Timone university hospital, Marseille, France) for academic, diagnosis and referral. We provide our point of view regarding the use of this tool. As discussing slides through videoconferencing is a new and specific activity, we have also summarised specific recommendations for practical remote histopathology meetings.


Assuntos
Patologia Clínica , Telepatologia , França , Humanos , Comunicação por Videoconferência
19.
Ann Pathol ; 41(1): 129-133, 2021 Feb.
Artigo em Francês | MEDLINE | ID: mdl-32732147

RESUMO

Diffuse gliomas with MYB or MYBL1 alterations are rare tumours mostly affecting children or young adults with long-term epilepsy. This category of glioma includes two morphological subtypes. The angiocentric subtype is characterized by an angiocentric pattern of growth and a frequent MYB:QKI fusion. The isomorphic subtype corresponds to a highly differentiated astrocytic glioma with low cellularity, low proliferation and no specific microscopic features. The diagnosis is based on the imaging, demonstrating a supratentorial tumor, associated with the confirmation of a MYB or MYBL1 rearrangement. Here, we report the case of a 7-year-old child who presented a right frontal brain lesion corresponding to an isomorphic diffuse glioma with MYBL1 alteration.


Assuntos
Astrocitoma , Neoplasias Encefálicas , Glioma , Neoplasias Supratentoriais , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Criança , Glioma/diagnóstico , Glioma/genética , Humanos , Proteínas Proto-Oncogênicas , Transativadores , Adulto Jovem
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