Gunshot suicides caused by cane-gun and alarm garden gun cannon: Two cases report."

Obtaining a firearm is not always easy, which is why some firearms that are antique or whose use is not intended to kiss are modified for suicide purposes. The two cases report a suicide with an original historical firearm as the canegun, a walking stick which conceals a firearm and a suicide with a modified alarm cannon, which is a small cannon, which fires blanks to scare away garden animals. The aims of the study were to describe the scene, the corpse external examination and the autopsy to understand the death mechanism. We wish to highlight the importance of the forensic pathologist's fieldwork, especially in complex or atypical suicides.

[An assessment of the direct costs of healthcare for victims of sexual assaults in hospital emergency units]. / Évaluation des coûts directs de la prise en charge en urgence d'une victime de violences sexuelles.

BACKGROUND: The Forensic medicine reform in 2011 enabled the development of forensic units specialized in multidisciplinary care of victims of criminal offences. Thanks to an annual budgetary allocation, the Ministry of Justice handles the financing of judicial acts, while the health care facilities assume the medical, psychological and social aspects. The objective of this study was to determine the direct costs of medical care provided to rape victims (such as defined in the article 222-23 of the Penal Code) in order to see how its funding could be reconsidered to prevent any additional cost that could be caused by non-sufficient medical, psychological and social care. Furthermore, this first assessment may serve as a basis for further reflection on creating other medical judicial units but also for reviewing existing structures. METHODS: The direct costs for medical care of a recent rape victim (<48hours) was quantified by including staff and consumables costs, treatments, biological tests and other expenses. RESULTS: The overall time for the entire medical care procedure was approximately three hours, for an overall cost of 673.92€, of which 41.5 % (279.90€) was paid by the Ministry of Justice. The medical, psychological and social aspects stood for the major expenditure items (394.02€), attributable mainly to the biological screening tests for sexually transmissible infections (STIs). CONCLUSION: These frequent situations require the convergence of human and material needs with a financial burden shared between the Ministry of Justice and health establishments. Authors suggest that in the annual hospital budgetary allocation allotted by the Ministry of Justice, the care of victims of sexual assault be based on the rate of day hospitalization "Medicine, medical specialties part time day or night common regime", allowing to provide optimal multidisciplinary care, which lessens the risks of complications and reduces the global cost created by these situations.

Non-typhi Salmonella enterica urinary tract infections.

OBJECTIVE: Non-typhi Salmonella enterica urinary tract infections (UTIs) are not frequent and rarely reported in the literature. We aimed to characterize clinical presentations and risk factors for the infection. PATIENTS AND METHODS: We performed a retrospective study of non-typhi Salmonella enterica strains isolated from urine cytobacteriological examinations (UCBE) collected between January 1, 1996 and October 30, 2014 and analyzed by the microbiology laboratories of the university hospitals of the western part of Île-de-France and of Paris, France. RESULTS: Twenty UCBEs positive for non-typhi Salmonella enterica were analyzed. The sex ratio was 0.53 and the average age of patients was 57 years. Clinical presentations were acute pyelonephritis, acute cystitis, and prostatitis. Eight cases of bacteremia were identified. Diarrhea was observed in half of patients, either before the UTI or simultaneously. No patient required to be transferred to the intensive care unit. Immunodeficiency and/or diabetes were observed in eight patients. Three patients presented with a uropathy. Prescribed antibiotics were third generation cephalosporins and fluoroquinolones. The average treatment duration was 20 days. A spondylitis and a purulent pleurisy were observed and deemed related to the UTI. Patient outcome was always favorable following treatment prescription. CONCLUSION: Non-typhi Salmonella enterica UTIs are rare. They are mainly observed in elderly patients presenting with immunodeficiency or an underlying urological disorder.

Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.

BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey. All CMT1A and HNPP patients were recruited at the referral centre for neuromuscular diseases of Pitié-Salpêtrière Hospital. RESULTS: Two phenotypes were identified amongst 18 CMT1C patients: the classical CMT form ('CMT-like', 11 cases) and a predominantly sensory form ('sensory form', seven cases). The mean CMT neuropathy score was 4.45 in CMT1C patients. Motor nerve conduction velocities in the upper limbs were significantly more reduced in CMT1A than in CMT1C patients. On the other hand, the motor nerve conduction velocity of the median nerve was significantly lower in CMT1C compared to the HNPP group. Distal motor latency was significantly more prolonged in CMT1A patients compared to the CMT1C and HNPP groups, the latter two groups having similar distal motor latency values. Molecular analysis revealed five new LITAF/SIMPLE mutations (Ala111Thr, Gly112Ala, Trp116Arg, Pro135Leu, Arg160Cys). CONCLUSIONS: Our study delineates CMT1C as mostly a mild form of neuropathy, and gives clinical and electrophysiological clues differentiating CMT1C from CMT1A and HNPP. Delineating phenotypes in CMT subtypes is important to orient molecular diagnosis and to help to interpret complex molecular findings.

Medical causes of temporary or definitive leaves from a French counterterrorist unit pre-internship.

INTRODUCTION: Each year, the French Special Weapons And Tactics team, Groupe d'Intervention de la Gendarmerie Nationale, recruits new members through a physically demanding 8-week selection process. The goal of this study is to estimate the incidence and the causes for temporary or final interruptions during this process for medical reasons. SUBJECTS, MATERIAL AND METHODS: All of the candidates for the November 2015 selection process were included in this prospective study. The number and reasons for temporary or final interruptions were documented by military general practitioners. RESULTS: The applicants were 48 law enforcement professionals (2 women, mean age 29.4 years, range 22-35). In 14 cases, a temporary interruption was required and in five cases the selection process prematurely ended. Fifty-two per cent of the temporary interruptions were due to sprains, tendinopathies, fractures or muscle tears, 11% were due to burns, wounds or subcutaneous bruises, 16% were due to cranial trauma and 21% were due to medical causes. DISCUSSION: The high prevalence of minor traumatology that we observed is similar to the ones observed in other cohorts describing initial training for military personnel in the conventional forces. However, the presence of other pathologies in our study, such as cranial trauma or medical causes, is due to the specificity of this internship selection granting access to an elite unit.

X-chromosome inactivation in female patients with Fabry disease.

Fabry disease (FD) is an X-linked genetic disorder caused by the deficient activity of lysosomal α-galactosidase (α-Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptomatic to, occasionally, as severely affected as male patients. The aim of this study was to evaluate the existence of skewed X-chromosome inactivation (XCI) in females with FD, its concordance between tissues, and its contribution to the phenotype. Fifty-six females with FD were enrolled. Clinical and biological work-up included two global scores [Mainz Severity Score Index (MSSI) and DS3], cardiac magnetic resonance imaging, measured glomerular filtration rate, and measurement of α-Gal activity. XCI was analyzed in four tissues using DNA methylation studies. Skewed XCI was found in 29% of the study population. A correlation was found in XCI patterns between blood and the other analyzed tissues although some punctual variability was detected. Significant differences in residual α-Gal levels, severity scores, progression of cardiomyopathy and deterioration of kidney function, depending on the direction and degree of skewing of XCI were evidenced. XCI significantly impacts the phenotype and natural history of FD in females.

[The contribution of legal medicine in child protection: Presentation of a multidisciplinary approach]. / Apport de la médecine légale à la protection de l'enfance : présentation d'un mode d'évaluation pluridisciplinaire.

INTRODUCTION: Maltreatment is a complex issue and therefore, requires a multidisciplinary approach, which has been commonly used in North America since the 1980s but remains unsystematic in France. Since 1999, the Centre d'Accueil en Urgence des Victimes d'Agression (emergency unit for victims of assault) of the Bordeaux University Hospital has brought together various medical, paramedical, and social actors on this issue. A standardized psychosocial assessment procedure has been introduced and is detailed in this paper, and was consistently conducted in all cases of suspicion of abuse on a minor. METHOD: The authors studied 74 cases of minors having undergone a psychosocial assessment following suspicions of maltreatment between 1 July 2014 and 30 June 2015 that were not referred to the courts. RESULTS: Forty-five girls and 29 boys, mean age 7 years, claiming mainly (75 %) to have been subjected to sexual violence, were addressed to us by internal partners (n=15) and external partners (n=37) and 22 who came to our unit by self-referral. Following our assessment, 35 returned to their home and 36 went to court following a police complaint (n=17) and a report filed to the public prosecutor of the Republic (n=19). Three of these cases were subjected to a report on matters of concern sent to the departmental council. CONCLUSION: Given the absence of a national consensus on the methodology used for assessing suspicions of maltreatment on minors, our psychosocial assessment can facilitate the task with its peer review as well as the detection and judicialization of the maltreatment. The authors also highlight the recent modification of article 226-14 of the Penal Code, which aims at protecting professionals reporting matters to legal authorities from any legal proceeding, except if it is established that the individual did not act in good faith.

[Violence in schools: Prospective study conducted in an emergency reception center for victims of aggression]. / Violences en milieu scolaire : étude prospective dans un centre d'accueil en urgence des victimes d'agression.

INTRODUCTION: Although violence in schools is quite well conveyed in the media, the French literature data remain patchy, and the figures available arise mainly from surveys of victimization. This study had two main purposes: to add to the national epidemiological data on this phenomenon and to emphasize the actions that can be undertaken by the practitioner facing such events. MATERIAL AND METHODS: This was a prospective descriptive study that was conducted from September 1st, 2014, to June 30, 2015, in a single center, the CAUVA, an emergency center within the Bordeaux University Hospital for victims of assault. Included in the study was any person alleging acts of violence on the way to school, in the neighborhood, or within the school itself, and who was examined at the CAUVA following a judicial requisition. An anonymized questionnaire was distributed during the consultation. RESULTS: We collected 41 questionnaires over a 10-month period with 70.7% males (n=29) and 29.3% females (n=12), with a mean age of 14 years and 5 months (range, 7-49 years). The subjects included two teachers and 39 students. The time between the event and the forensic examination at CAUVA was mostly less than or equal to 7 days (n=18), between 7 and 15 days (n=14), 15 and 30 days (n=6), and more than 30 days (n=3). Twenty-six attacks (63%) took place inside the school - 21 middle schools - eight near the school, and seven between the student's home and the school. Inside the school, the events took place during a break (n=15), in the classroom (n=9), and during cultural outings (n=2). For one student out of two (n=25), the event reported was the first with acts of physical (n=37), psychological (n=20), or sexual violence (n=2). In 14.6% (n=6) of the cases, the assailant was a teacher and in almost 83% (n=34) of the cases it was another student, either from the same class (n=19) or another class (n=14), or a former student (n=1). CONCLUSION: This study brings out trends that can assist the practitioner during consultations related to violence. Screening, the description of the physical and psychological impact, and dispatching to a medical-legal unit for complex situations or sexual assaults contribute to making the general practitioner, the emergency physician, the pediatrician, and the school doctor key players in the treatment and management of violence.

[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. / Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients.

Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in the Reunion Island, we examined all French patients known as carriers of the periaxin gene mutation. There were 24 patients. Eighteen were from the Reunion Island (6 families and 10 sporadic cases). The six remaining patients were in two families, each with two affected individuals, and two sporadic cases. The series included 17 female and seven male patients. Walking was acquired late, on average at 3.4±1.6 years. One patient never learned to walk. The Charcot Marie Tooth Neuropathy Score (CMTNS) averaged 24.5±8.1. Seven patients had been wheelchair-bound since the age of 24±22. Other symptoms were: scoliosis most often observed after the age of 12 years and sometimes complicated by a restrictive respiratory syndrome; foot deformity in 24 patients; strabismus; glaucoma; myopia. When conduction recordings are available, median nerve motor conduction was slow (<10m/s), associated with a major lengthening of distal latencies. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. This disease leads to major disability (29% of patients in this series were wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly recommended for consanguineous families.

[Developments in hereditary neuropathies]. / Actualités dans les neuropathies héréditaires.

Hereditary sensorimotor neuropathies, or Charcot-Marie-Tooth disease (CMT) comprise a group of diseases with heterogeneous clinical, electrophysiological and genetic expression. They are classified by the mode of inheritance (autosomal dominant, X-linked dominant, autosomal recessive) and their electrophysiological characteristics taking into account the speed of motor conduction of the median nerve (demyelinating, intermediary and axonal forms). Certain purely motor forms are called spinal CMT or hereditary distal motor neuropathy, or distal spinal amyotrophy. CMT involving an important sensorial component, trophic disorders, or signs of dysautonomia are included in the classification of hereditary sensory and autonomic neuropathies.

[Prehospital use of haemostatic dressing QuikClot ACS+™ for hemorrhage control of a perineal trauma]. / Utilisation en préhospitalier d'un pansement hémostatique QuikClot ACS+™ pour le contrôle d'une hémorragie sur délabrement périnéal post-traumatique.

First responders are sometimes confronted with external uncontrolled haemorrhage despite compression, bandages, and tourniquets. Several topical haemostatic agents were developed to try to face these situations. Their application was mainly described and studied in military environment. We report the case of a worker victim of an accident of construction site with hemorrhagic perineal trauma for whom the use of a haemostatic bandage QuikClot ACS+™ (Z-Medica) seemed to us particularly useful in prehospital setting.

[Nemaline rod myopathy revealed by acute respiratory failure after an outpatient cataract surgery]. / Révélation d'une myopathie à bâtonnets de l'adulte par une insuffisance respiratoire aiguë après chirurgie ambulatoire de la cataracte.

We report the case of a 63-year-old patient admitted to the ICU for an acute respiratory failure one week after an outpatient cataract surgery that revealed a nemaline rod myopathy. We present this rare myopathy whose particularities are its aetiology, which can be inherited, mostly with a congenital onset, or sporadic, and the variability of the age at presentation. We discuss the exceptional onset of severe unknown underlying diseases in the context of outpatient surgery.

Diagnostic value of markers of muscle degeneration in sporadic inclusion body myositis.

Sporadic inclusion body myositis (s-IBM) is characterized histologically by the association of concomitant inflammatory and degenerative processes. We evaluated the sensitivity and specificity of different markers of the degenerative process in order to refine the histological diagnosis. We performed an immunohistochemical study with antibodies directed against ubiquitin, amyloid-beta precursor protein (AbetaPP), amyloid-beta (Abeta), SMI-31, SMI-310, Tar-DNA binding protein-43 (TDP-43) and p62 on s-IBM and control muscle biopsies. Based on conventional stains 36 patients with characteristic clinical features of s-IBM were subclassified as presumed definite s-IBM (d s-IBM, n = 17) or possible s-IBM (p s-IBM, n = 19) according to the presence or absence of vacuolated muscle fibers. Immunohistochemically, TDP-43 and p62 were the most sensitive markers, accumulating in all d s-IBM and in 31% and 37%, respectively, of the p s-IBM cases and thus enabling reclassification of these cases as d s-IBM. We recommend using TDP-43 and p62 antibodies in the histological diagnosis workup of s-IBM. The specificity of these markers has to be further validated in prospective series.

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.

We studied the ultrastructural characteristics in patients with myofibrillar myopathy (MFM) and differentiated between MFM-subtypes using electron microscopic (EM) findings. The ultrastructural findings in 19 patients with different genetically proven MFMs (9 desmin, 5 alphaB-crystallin, 3 ZASP, 2 myotilin) were analyzed. In one ZASPopathy, we additionally performed an immunoEM study, using antibodies against desmin, alphaB-crystallin, ZASP and myotilin. The ultrastructural findings in desminopathies and alphaB-crystallinopathies were very similar and consisted of electrondense granulofilamentous accumulations and sandwich formations. They differed in the obvious presence of early apoptotic nuclear changes in alphaB-crystallinopathies. ZASPopathies were characterized by filamentous bundles (labeled with the myotilin antibody on immunoEM), and floccular accumulations of thin filamentous material. Tubulofilamentous inclusions in sarcoplasm and myonuclei in combination with filamentous bundles were characteristic for myotilinopathies. We conclude that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs.

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. / Myopathies distales avec mutations du gène GNE: à propos de quatre cas.

Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement. Among recessive forms, the myopathy resulting from mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, often designated as Nonaka myopathy, primarily affect young adults and are characterized by muscle wasting and weakness predominating on the anterior compartment of the leg, a remarkable quadriceps sparing and a frequent evolution towards ambulation loss after a few years. Finding rimmed vacuoles on muscle biopsy is a further argument for the diagnosis. However, the presentation and course may vary and we describe four patients who illustrate the clinical spectrum of the disease: the first patient had a classical form with progressive weakness over several years, the second one a rapidly progressive myopathy leading to ambulation loss within three years from onset, the third one a very slow course with no ambulation loss after several decades, and the last one a progressive form with misleading neurogenic features on the EMG. One of our four patients harbored a homozygous mutation, and three others were compound heterozygous, two of them displaying an original mutation: one had a c.2036 T>G (p.Val679Gly) substitution, the c.829 C>T (p.Arg277Cys) substitution.