Penetrating wounds of the neck are often life-threatening. The victims are exposed to vascular and laryngotracheal lesions. The purpose of this work is to report the various aspects of the management of penetrating wo...Penetrating wounds of the neck are often life-threatening. The victims are exposed to vascular and laryngotracheal lesions. The purpose of this work is to report the various aspects of the management of penetrating wounds in our context and to make the medico-legal assessment of incapacity in the criminal sense or total incapacity for work. This is a retrospective study (2002-2014) on thirty-nine (39) cases of penetrating neck wounds, received at the ENT departments of the Aristide Le Dantec and Fann University Hospital Centers. Patients were predominantly male, representing 94% of cases with an average age of 27 years. Seventy (70%) of the accidents occurred in the region of Dakar. In 42% of cases, the circumstance of occurrence was a fight or an assault. The weapon used in most cases by the aggressor was a cutter or a knife. The average waiting time was 37 hours with extremes of 02 and 216 hours. Surgically, all patients had been examined under general anesthesia. In terms of lesions, 37 cases had profound cervical muscle injuries, i.e. 94%. There were 17 vascular lesions (43%). The medico-legal distribution of patients showed that among them, 10% had a total incapacity to work exceeding 21 days. The determination of total incapacity for work is an important medical procedure that requires capability and experience. The doctor must not fall into the trap of the confusion between the TIW on the criminal level and the TIW on the civil level. He must limit medically and should not make judgments.展开更多
Background Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressiv...Background Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has identified mutations in the gene GAN in patients with this disorder. This gene produces a protein called gigaxonin which is presumably involved in protein degradation via the ubiquitin-proteasome system. However, the underlying molecular mechanism is not clearly understood yet. Methods Here we present the fi rst patient from Mexico with clinical data suggesting GAN. Sequencing of the GAN gene was carried out. Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly available prediction tools PolyPhen-2 and PANTHER. Results The patient is a compound heterozygous carrying two novel mutations in the GAN gene. The sequence analy-sis revealed two missense mutations in the Kelch repeats domain. In one allele, a C>T transition was found in exon 9 at the nucleotide position 55393 (g.55393C>T). In the other allele, a transversion G>T in exon 11 at the nucleotide position 67471 (g.67471G>T) was observed. Both of the bioinformatic tools predicted that these amino acid substitutions would have a negative impact on gigaxonin's function. Conclusion This work provides useful information for health professionals and expands the spectrum of disease-causing mutations in the GAN gene and it is the first documented case in Mexican population.展开更多
The main aims of a medico-judicial unit are to ensure the examination of assault victims or persons in custody and to perform sampling necessary for investigations.Forensic examination is essential to describe the wou...The main aims of a medico-judicial unit are to ensure the examination of assault victims or persons in custody and to perform sampling necessary for investigations.Forensic examination is essential to describe the wounds and to evaluate the consequences of an assault by determining days of total incapacity for work(ITT).After the Paris attack on November 13,2015,121 victims were examined at the medico-judicial units of Paris.An initial forensic certificate was issued by forensic physicians with an assessment of physical ITT.A consultation with a forensic psychiatrist was systematically scheduled on the same day to obtain a forensic certificate for the psychological ITT.The average age of the victims was(33±7)years and the sex ratio was 1.26.Most victims were in the Bataclan concert hall(78/121 or 64.5%).Of the 121 victims,73(60.3%)had projectile lesions(bullets,bolts and nuts,metal fragments,etc.)and 48(39.7%)had non-projectile lesions(bruises,hematomas,etc.).The average physical ITT was 27 days(0;190).The evaluation of the number of days of physical ITT was often complicated as some patients were still in medical care at the time of the initial examination.This experience enabled the Paris medico-judicial unit to anticipate the management required should any future event of this magnitude occur.It also reinforced cooperation between the medico-judicial unit and other departments,mostly emergency services and the forensic psychiatric unit.The Paris medico-judicial unit was thus able to offer a unique place of care by providing both physical and psychological examinations.展开更多
文摘Penetrating wounds of the neck are often life-threatening. The victims are exposed to vascular and laryngotracheal lesions. The purpose of this work is to report the various aspects of the management of penetrating wounds in our context and to make the medico-legal assessment of incapacity in the criminal sense or total incapacity for work. This is a retrospective study (2002-2014) on thirty-nine (39) cases of penetrating neck wounds, received at the ENT departments of the Aristide Le Dantec and Fann University Hospital Centers. Patients were predominantly male, representing 94% of cases with an average age of 27 years. Seventy (70%) of the accidents occurred in the region of Dakar. In 42% of cases, the circumstance of occurrence was a fight or an assault. The weapon used in most cases by the aggressor was a cutter or a knife. The average waiting time was 37 hours with extremes of 02 and 216 hours. Surgically, all patients had been examined under general anesthesia. In terms of lesions, 37 cases had profound cervical muscle injuries, i.e. 94%. There were 17 vascular lesions (43%). The medico-legal distribution of patients showed that among them, 10% had a total incapacity to work exceeding 21 days. The determination of total incapacity for work is an important medical procedure that requires capability and experience. The doctor must not fall into the trap of the confusion between the TIW on the criminal level and the TIW on the civil level. He must limit medically and should not make judgments.
文摘Background Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has identified mutations in the gene GAN in patients with this disorder. This gene produces a protein called gigaxonin which is presumably involved in protein degradation via the ubiquitin-proteasome system. However, the underlying molecular mechanism is not clearly understood yet. Methods Here we present the fi rst patient from Mexico with clinical data suggesting GAN. Sequencing of the GAN gene was carried out. Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly available prediction tools PolyPhen-2 and PANTHER. Results The patient is a compound heterozygous carrying two novel mutations in the GAN gene. The sequence analy-sis revealed two missense mutations in the Kelch repeats domain. In one allele, a C>T transition was found in exon 9 at the nucleotide position 55393 (g.55393C>T). In the other allele, a transversion G>T in exon 11 at the nucleotide position 67471 (g.67471G>T) was observed. Both of the bioinformatic tools predicted that these amino acid substitutions would have a negative impact on gigaxonin's function. Conclusion This work provides useful information for health professionals and expands the spectrum of disease-causing mutations in the GAN gene and it is the first documented case in Mexican population.
文摘The main aims of a medico-judicial unit are to ensure the examination of assault victims or persons in custody and to perform sampling necessary for investigations.Forensic examination is essential to describe the wounds and to evaluate the consequences of an assault by determining days of total incapacity for work(ITT).After the Paris attack on November 13,2015,121 victims were examined at the medico-judicial units of Paris.An initial forensic certificate was issued by forensic physicians with an assessment of physical ITT.A consultation with a forensic psychiatrist was systematically scheduled on the same day to obtain a forensic certificate for the psychological ITT.The average age of the victims was(33±7)years and the sex ratio was 1.26.Most victims were in the Bataclan concert hall(78/121 or 64.5%).Of the 121 victims,73(60.3%)had projectile lesions(bullets,bolts and nuts,metal fragments,etc.)and 48(39.7%)had non-projectile lesions(bruises,hematomas,etc.).The average physical ITT was 27 days(0;190).The evaluation of the number of days of physical ITT was often complicated as some patients were still in medical care at the time of the initial examination.This experience enabled the Paris medico-judicial unit to anticipate the management required should any future event of this magnitude occur.It also reinforced cooperation between the medico-judicial unit and other departments,mostly emergency services and the forensic psychiatric unit.The Paris medico-judicial unit was thus able to offer a unique place of care by providing both physical and psychological examinations.