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1.
Orphanet J Rare Dis ; 19(1): 114, 2024 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-38475835

RESUMEN

BACKGROUND: In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant's life. RESULTS: Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called 'pig bronchus' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. CONCLUSION: Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.


Asunto(s)
Deformidades Congénitas de las Extremidades , Tráquea/anomalías , Recién Nacido , Embarazo , Femenino , Humanos , Constricción Patológica , Esófago/anomalías
2.
Arch Suicide Res ; 25(2): 287-296, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-32281522

RESUMEN

Suicide in patients with opioid use disorder (OUD) is a complex issue. In addition to accidental intoxications, a higher prevalence of fatal suicides in patients with OUD can be found compared to the general population. In this study, suicides with a diagnosis of OUD documented in the project "Suicides, A National Survey" were extracted from our data bank. Individuals with a diagnosis of OUD in their medical history were compared to other suicides. The analyses included clinical and demographic factors as well as an investigation of suicide methods and toxicology of psychotropic drugs. For the statistical analyses, we applied chi-square tests and calculated odds ratios. Out of 6,495 suicide cases in Switzerland between 2000 and 2010, 215 individuals with a medical history of OUD could be identified. Persons in OUD cases were significantly younger than in other suicide cases (p < .001) and had more frequently a positive history for suicide attempts (p = .02). In addition, persons in OUD cases were more often female (p = .076). Intentional self-poisoning with medication was applied more often in individuals with OUD compared to other suicide methods (p < .001). When self-poisoning with drugs was compared to violent suicide methods, a combination of benzodiazepines with antidepressants was predominantly found. Our study yielded significant characteristics and risk factors for suicides in individuals with OUD. The predominant method of suicide in individuals with OUD was intended self-poisoning by medication. This knowledge is of clinical importance for the monitoring of at-risk individuals with OUD as well as for suicide prevention in this patient group.


Asunto(s)
Trastornos Relacionados con Opioides , Suicidio Completo , Estudios de Cohortes , Femenino , Humanos , Trastornos Relacionados con Opioides/epidemiología , Psicotrópicos/uso terapéutico , Intento de Suicidio
3.
PLoS One ; 14(9): e0220508, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31532773

RESUMEN

BACKGROUND: Hanging is a frequent suicide method, but developing measures to prevent suicide by this method is particularly challenging. The aim of this study is to gain new knowledge that would enable the design of effective of measures that would help prevent suicide by hanging. METHODS: A total of 6,497 suicides registered across the eight Swiss Forensic Institutes (IRM) were analysed. Of these, 1,282 (19.7%) persons hung themselves. T-test and chi-square tests. and chi-square tests were used to analyse …(or determine, or investigate) …group differences regarding sociodemographic variables and triggers. FINDINGS: Men and women who hung themselves showed no significant differences in sociodemographic variables. However, women were significantly more likely to have a psychiatric illness history, whereas men were more likely to have somatic diagnoses. In controlled environments, people used shelves, plumbing and windows more often than beams, pipes, bars and hooks to hang themselves. Compared with other suicide methods, hanging was more likely to have been triggered by partner and financial problems. CONCLUSIONS: Suicide by hanging can be best prevented in institutions (e.g. psychiatric hospitals, somatic hospitals, prisons). These institutions should be structurally evaluated and modified with a primary focus on sanitary areas, windows and shelves. Otherwise, it is important to use general suicide prevention measures, such as awareness raising and staff training in medical settings, low-threshold treatment options and regular suicide risk assessment for people at risk.


Asunto(s)
Prevención del Suicidio , Suicidio/estadística & datos numéricos , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Vigilancia de la Población , Factores Sexuales , Factores Socioeconómicos , Encuestas y Cuestionarios , Suiza/epidemiología , Adulto Joven
4.
Dtsch Arztebl Int ; 116(33-34): 545-552, 2019 08 09.
Artículo en Inglés | MEDLINE | ID: mdl-31554543

RESUMEN

BACKGROUND: The aim of this research project, part of a program initiated by the Swiss Federal Council, was to trace the development of organized assisted suicide in Switzerland, starting from the very first case in 1985. METHODS: Retrospective data on 3666 death records from Swiss institutes of foren- sic medicine for the years 1985 to 2014 were systematically compiled, read into a database, and for the most part quantitatively evaluated. RESULTS: Alongside a marked increase in the overall number of assisted suicides since the turn of the century, the number of people traveling to Switzerland from other countries-predominantly Germany-for this purpose has risen steadily. The proportion of women was 60%, and the age at death ranged from 18 to 105 years (median 73). The largest diagnostic category was malignancy overall, neurological disease for those from other countries. The next largest category was age-related functional limitation, e.g., sensory impairment (loss of sight and hearing), the conse- quences of which were stated in writing as the reason for the wish to die. Following the Swiss Federal Court's promulgation of binding requirements in 2006, the docu- mentation contained in the death records for the subsequent period up to 2014 is much more detailed, but still not uniform or even necessarily complete. CONCLUSION: The number of candidates for organized assisted suicide increased steadily during the study period, but no standard procedures were followed. The question therefore arises of whether further regulation or the introduction of a cen- tral registration office to maximize standardization and promote transparency would lead to improved quality assurance.


Asunto(s)
Suicidio Asistido/estadística & datos numéricos , Academias e Institutos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Certificado de Defunción , Femenino , Medicina Legal , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Suiza , Adulto Joven
5.
Swiss Med Wkly ; 148: w14646, 2018 09 10.
Artículo en Inglés | MEDLINE | ID: mdl-30378640

RESUMEN

AIMS: In comparison with other central European countries, Switzerland has a high prevalence of gun ownership and a high rate of suicide by shooting. After the Army XXI reform in 2003, which reduced personnel from about 400,000 to approximately 200,000, a decline in suicides by firearms and a decline in the total number of suicides was observed in national data spanning the period from 2000 to 2010. It is, however, unclear whether this decline can be linked to the reduced availability of military guns. This study explored whether the decline in suicide by firearms is related to the decline of suicides by army weapons. METHODS: In 83.1% (n = 1112) of the 1338 suicides by firearm between 2000 and 2010 in Switzerland, the firearm could be categorised as an army weapon or a non-army weapon. The army weapon was used in 39.1% of these suicides. In comparison with other firearms, those who used army weapons tended to be younger and more likely to have a university degree. A prior suicide attempt was found less often in cases using a military weapon than other firearms. After the Army XXI reform, there was a significant drop in suicides by males aged 18 to 43 years using an army weapon, but no change in male suicide rates in the same age group who used a non-army weapon. The drop was statistically linked to a reduction of suicide by the army gun. RESULTS: The army weapon was used in 39.1% of suicides by firearm between 2000 and 2010 in Switzerland. In comparison with other methods, those who used army weapons tended to be younger and more likely to have a university degree. A prior suicide attempt was found less often in cases using a military weapon than other methods. After the Army XXI reform, there was a significant drop in suicides by males aged 18 to 43 years using an army weapon, but no change in males' suicide rates in the same age group who used a non-army weapon. The drop was statistically linked to a reduction of suicide by the army gun. CONCLUSIONS: Males who use army weapons differ from those who use other types of weapons. The significant drop in suicides was found in males aged 18 to 43 but there was no change in males of the same age group who used a non-army weapon. These results support the hypotheses that the observed drop in suicides is linked to the Army XXI reform and that restriction of access to guns is essential for reducing suicides by firearm.


Asunto(s)
Armas de Fuego/legislación & jurisprudencia , Personal Militar/estadística & datos numéricos , Políticas de Control Social/estadística & datos numéricos , Suicidio/estadística & datos numéricos , Suicidio/tendencias , Adulto , Humanos , Masculino , Personal Militar/psicología , Políticas de Control Social/tendencias , Suicidio/psicología , Encuestas y Cuestionarios , Suiza/epidemiología , Prevención del Suicidio
6.
Psychiatr Prax ; 45(6): 307-313, 2018 09.
Artículo en Alemán | MEDLINE | ID: mdl-29665611

RESUMEN

OBJECTIVE: To analyze characteristics of suicide methods of psychiatric inpatients that were carried out within and outside of psychiatric hospitals in order to identify adequate suicide prevention measures. METHODS: Data of 436 inpatient suicides were included in the data base of all institutes of forensic medicine in Switzerland for the years 2000 - 2010. We compared details of suicide methods that were applied within and outside psychiatric hospitals. RESULTS: About two thirds of all suicides were carried out outside psychiatric hospitals. Inpatients most often used jumping in front of a train, jumps from heights and drowning outside of the hospital. Within psychiatric care units patients most often died by hanging, jumps from height and self-poisoning. Heights of fall were significantly lower in suicides carried out within the hospital (Median 9 versus 22 m). In psychiatric hospitals incomplete hanging was found in 75.6 %. Waist belts were the tools most often employed. CONCLUSIONS: Windows and other spots in inpatient units should be secured if higher than first storey respectively 4 meters. Suspension points have to be secured at a low level especially in non-public rooms.


Asunto(s)
Pacientes Internos , Prevención del Suicidio , Suicidio , Alemania , Hospitales Psiquiátricos , Humanos , Pacientes Internos/psicología , Pacientes Internos/estadística & datos numéricos , Suicidio/psicología , Suiza
7.
Int J Legal Med ; 132(4): 1057-1065, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29350269

RESUMEN

Sudden cardiac death (SCD) is one of the major causes of mortality worldwide, mostly involving coronary artery disease in the elderly. In contrary, sudden death events in young victims often represent the first manifestation of undetected genetic cardiac diseases, which remained without any symptoms during lifetime. Approximately 30% of these sudden death cases have no definite cardiac etiology after a comprehensive medicolegal investigation and are therefore termed as sudden unexplained death (SUD) cases. Advances in high-throughput sequencing approaches have provided an efficient diagnostic tool to identify likely pathogenic variants in cardiovascular disease-associated genes in otherwise autopsy-negative SUD cases. The aim of this study was to genetically investigate a cohort of 34 unexplained death cases by focusing on candidate genes associated with cardiomyopathies and channelopathies. Exome analysis identified potentially disease-causing sequence alterations in 29.4% of the 34 SUD cases. Six (17.6%) individuals had variants with likely functional effects in the channelopathy-associated genes AKAP9, KCNE5, RYR2, and SEMA3A. Interestingly, four of these six SUD individuals were younger than 18 years of age. Since the total SUD cohort of this study included five children and adolescents, post-mortem molecular autopsy screening indicates a high diagnostic yield within this age group. Molecular genetic testing represents a valuable approach to uncover the cause of death in some of the SUD victims; however, 70-80% of the cases still remain elusive, emphasizing the importance of additional research to better understand the pathological mechanisms leading to a sudden death event.


Asunto(s)
Canalopatías/genética , Muerte Súbita Cardíaca/etiología , Exoma , Proteínas de Anclaje a la Quinasa A/genética , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Proteínas del Citoesqueleto/genética , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Persona de Mediana Edad , Mutación Missense , Miocardio/patología , Tamaño de los Órganos , Canales de Potasio con Entrada de Voltaje/genética , Canal Liberador de Calcio Receptor de Rianodina/genética , Semaforina-3A/genética , Adulto Joven
8.
Eur J Hum Genet ; 25(4): 404-409, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-28074886

RESUMEN

Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death. In this study, we performed whole-exome sequencing (WES) in 161 European SIDS infants with focus on 192 genes associated with cardiovascular and metabolic diseases. Potentially causative variants were detected in 20% of the SIDS cases. The majority of infants had variants with likely functional effects in genes associated with channelopathies (9%), followed by cardiomyopathies (7%) and metabolic diseases (1%). Although lethal arrhythmia represents the most plausible and likely cause of death, the majority of SIDS cases still remains elusive and might be explained by a multifactorial etiology, triggered by a combination of different genetic and environmental risk factors. As WES is not substantially more expensive than a targeted sequencing approach, it represents an unbiased screening of the exome, which could help to investigate different pathogenic mechanisms within the genetically heterogeneous SIDS cohort. Additionally, re-analysis of the datasets provides the basis to identify new candidate genes in sudden infant death.


Asunto(s)
Enfermedades Cardiovasculares/genética , Canalopatías/genética , Exoma , Errores Innatos del Metabolismo/genética , Muerte Súbita del Lactante/genética , Enfermedades Cardiovasculares/diagnóstico , Canalopatías/diagnóstico , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Errores Innatos del Metabolismo/diagnóstico , Muerte Súbita del Lactante/diagnóstico
9.
J Forensic Sci ; 61(4): 988-92, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27364278

RESUMEN

The prevalence of cardiac implantable electronic devices (CIEDs), pacemakers and implantable cardioverter defibrillators (ICDs) is increasing. However, postmortem analysis of CIEDs is not performed routinely. Fourteen consecutive CIEDs were analyzed. The indication for and date of implantation, technical data, CIED reprogramming, heart rhythm disturbances, patient demographics and medical consultations were investigated. Death during the first year after implantation was seen in 54%, whereof 71% consulted a physician within 10 days before death. The time of death was attributed to a particular day in 29%. There was a relationship between CIEDs and cause/manner of death in 50%. Although limited by a small sample size, this study advocates the routine postmortem CIED analysis for forensic and clinical purposes in selected cases. Patients with CIEDs seem to show an increased risk of death during the first year after implantation. The analysis of CIEDs can be helpful in evaluating the time/cause/manner of death.


Asunto(s)
Autopsia , Marcapaso Artificial , Arritmias Cardíacas , Causas de Muerte , Muerte , Desfibriladores Implantables , Corazón , Humanos
11.
Int J Legal Med ; 130(4): 1011-1021, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26846766

RESUMEN

Sudden death of healthy young adults in the absence of any medical reason is generally categorised as autopsy-negative sudden unexplained death (SUD). Approximately 30 % of all SUD cases can be explained by lethal sequence variants in cardiac genes causing disturbed ion channel functions (channelopathies) or minimal structural heart abnormalities (cardiomyopathies). The aim of this study was to perform whole-exome sequencing (WES) in five young SUD cases in order to identify potentially disease-causing mutations with a focus on 184 genes associated with cardiac diseases or sudden death. WES analysis enabled the identification of damaging-predicted cardiac sequence alterations in three out of five SUD cases. Two SUD victims carried disease-causing variants in long QT syndrome (LQTS)-associated genes (KCNH2, SCN5A). In a third case, WES identified variants in two genes involved in mitral valve prolapse and thoracic aortic aneurism (DCHS1, TGFß2). The genome of a fourth case carried several minor variants involved in arrhythmia pointing to a multigene influence that might have contributed to sudden death. Our results confirm that post-mortem genetic testing in SUD cases in addition to the conventional autopsy can help to identify familial cardiac diseases and can contribute to the identification of genetic risk factors for sudden death.


Asunto(s)
Cadherinas/genética , Muerte Súbita/etiología , Canal de Potasio ERG1/genética , Canal de Sodio Activado por Voltaje NAV1.5/genética , Factor de Crecimiento Transformador beta2/genética , Adulto , Proteínas Relacionadas con las Cadherinas , Femenino , Genética Forense , Heterocigoto , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Mutación , Polimorfismo Genético , Adulto Joven
12.
Forensic Sci Int ; 257: e32-e37, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26597323

RESUMEN

BACKGROUND: Self-inflicted injuries are a known, but challenging topic in the healthcare sector and the judicial system. Therefore, differentiation of these injuries from a third-party-interference is crucial in the field of forensic medicine. However, self-painted injuries with makeup, which entail misleading of medical staff and the administration of justice, have apparently not been described in the literature so far. CASE: A case of a rare kind of victim role staging in a 26-year-old Caucasian woman in the field of forensic medicine is presented. She supposedly had been robbed and harmed by two unknown men. The forensic examination revealed subjective symptoms and objective findings, such as skin discolorations appearing as fresh bruises. However, a closer look revealed makeup. After removal, no injuries were seen. CONCLUSIONS: Awareness of the existence of exceptional cases of victim role staging is essential in the daily routine of healthcare, judicial and forensic professionals. Therefore, a questioning attitude within the physical examination as well as proper assessment of objective findings is crucial. Furthermore, the importance of an interdisciplinary approach of possible factitious disorders is demonstrated. The sensitization may exclude a third-party-interference, prevent damages to the health care system, avoid misleading of the administration of justice, and, therefore, reduce socioeconomic costs. Moreover, the recognition may enable adequate interventions and provide patients with professional help.


Asunto(s)
Cosméticos , Decepción , Trastornos Fingidos/psicología , Heridas y Lesiones , Adulto , Femenino , Humanos
13.
Swiss Med Wkly ; 145: w14129, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26098688

RESUMEN

Sudden cardiac death (SCD) is by definition unexpected and cardiac in nature. The investigation is almost invariably performed by a forensic pathologist. Under these circumstances the role of the forensic pathologist is twofold: (1.) to determine rapidly and efficiently the cause and manner of death and (2.) to initiate a multidisciplinary process in order to prevent further deaths in existing family members. If the death is determined to be due to "natural" causes the district attorney in charge often refuses further examinations. However, additional examinations, i.e. extensive histopathological investigations and/or molecular genetic analyses, are necessary in many cases to clarify the cause of death. The Swiss Society of Legal Medicine created a multidisciplinary working group together with clinical and molecular geneticists and cardiologists in the hope of harmonising the approach to investigate SCD. The aim of this paper is to close the gap between the Swiss recommendations for routine forensic post-mortem cardiac examination and clinical recommendations for genetic testing of inherited cardiac diseases; this is in order to optimise the diagnostic procedures and preventive measures for living family members. The key points of the recommendations are (1.) the forensic autopsy procedure for all SCD victims under 40 years of age, (2.) the collection and storage of adequate samples for genetic testing, (3.) communication with the families, and (4.) a multidisciplinary approach including cardiogenetic counselling.


Asunto(s)
Autopsia/métodos , Muerte Súbita Cardíaca/etiología , Familia , Patologia Forense/métodos , Pruebas Genéticas/métodos , Factores de Edad , Causas de Muerte , Comunicación , Predisposición Genética a la Enfermedad , Humanos , Suiza
14.
Traffic Inj Prev ; 16(8): 768-72, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25793638

RESUMEN

OBJECTIVE: To determine details of road traffic suicides in Switzerland between 2000 and 2010 and to look at our results in relation to studies from other countries. METHODS: Retrospective data analysis of road traffic suicides extracted from the database of all suicides investigated by Swiss institutes of forensic medicine between 2000 and 2010 using a standardized assessment sheet. RESULTS: Out of 4,885 suicides in Switzerland, we identified 76 cases (1.56%) of road traffic suicide. Twenty-three cases had to be excluded because, although the forensic medical experts suspected suicide, they could not establish it for sure. That left 53 cases (1.02% of all suicides), mostly unmarried men, who were on average 9 years younger than the study population as a whole. Most collided with other vehicles, mainly other cars, and usually on main highways or country roads. In most cases, the cause of death was multiple injuries. Other persons were killed 4 times more often than with other suicide methods. Toxicology screening was performed significantly more frequently than with other methods but more often proved negative. Acute psychiatric problems were commonly assumed to be the underlying reasons. Suicide notes were left by only 20%, a lower proportion than in the study population as a whole. CONCLUSIONS: Road traffic suicides account for approximately 1% of all suicide methods used in Switzerland, although unclassifiable cases indicate that the rate might be higher. Every road traffic crash should therefore be routinely investigated by an interdisciplinary team and suicide should be considered as the possible cause.


Asunto(s)
Accidentes de Tránsito/mortalidad , Suicidio/estadística & datos numéricos , Adolescente , Adulto , Anciano , Bases de Datos Factuales , Femenino , Medicina Legal , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Suiza/epidemiología , Adulto Joven
15.
Crisis ; 36(2): 110-116, 2015 06.
Artículo en Inglés | MEDLINE | ID: mdl-25708254

RESUMEN

Background: Suicide is the leading cause of death in Swiss prisons. The Federal Statistics Office provides numbers but no further details. Previous studies worldwide have focused on identifying suicide risk factors in prisoners, but very few have looked at the methods used in relation to prevention strategies. Aims: To obtain details of Swiss prison suicides, determine new findings in an international context, and establish prevention strategies based on the information acquired. Method: Retrospective data analysis of prison suicides extracted from the database of all suicides investigated by Swiss institutes of legal medicine between 2000 and 2010, using a standardized assessment sheet. Results: Out of 4,885 suicides investigated in the institutes of legal medicine in Switzerland, we identified 50 (1.02%) inmate suicides. Most were unmarried Swiss men, with a median age of 32 years. The two most common methods used were hanging and tricyclic antidepressant overdose. Two died due to self-immolation. Conclusion: Swiss prison suicides do not differ from those in other countries regarding sociodemographic details and the most common method of hanging. Anchoring devices, even low ones, should be avoided to prevent hanging and medication intake should be monitored. As prisoners use tricyclic antidepressants to die by suicide, we recommend the general monitoring of intake.

16.
Praxis (Bern 1994) ; 104(2): 89-94, 2015 Jan 14.
Artículo en Alemán | MEDLINE | ID: mdl-25586434

RESUMEN

Interpersonal violence represents a widespread phenomenon with a high prevalence. Consequences of these acts of violence are serious and extensive to the victims and from a socio-economic point of view. Physical examination of the victims is a key aspect in the medic-legal expertise. This article describes the basic principles and the standard procedures in conjunction with the examination of violent crime victims.


La violence interpersonelle représente un phénomène répandu et fréquent. Les conséquences d'actes de violence sont souvent graves et de longue portée pour les parties prenantes ainsi que dans une perspective socioéconomique. L'examen de victimes de violence sexuelle et domestique est un thème central de l'expertise judiciaire. L'article suivant décrit le fondement et les procédés d'examen.


Asunto(s)
Violencia Doméstica/legislación & jurisprudencia , Testimonio de Experto/legislación & jurisprudencia , Delitos Sexuales/legislación & jurisprudencia , Maltrato Conyugal/diagnóstico , Heridas y Lesiones/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Estudios Transversales , Violencia Doméstica/prevención & control , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Delitos Sexuales/prevención & control , Manejo de Especímenes , Maltrato Conyugal/legislación & jurisprudencia , Maltrato Conyugal/psicología , Maltrato Conyugal/estadística & datos numéricos , Suiza , Heridas y Lesiones/prevención & control , Adulto Joven
17.
J Med Ethics ; 41(8): 611-7, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25142806

RESUMEN

While assisted suicide (AS) is strictly restricted in many countries, it is not clearly regulated by law in Switzerland. This imbalance leads to an influx of people-'suicide tourists'-coming to Switzerland, mainly to the Canton of Zurich, for the sole purpose of committing suicide. Political debate regarding 'suicide tourism' is taking place in many countries. Swiss medicolegal experts are confronted with these cases almost daily, which prompted our scientific investigation of the phenomenon. The present study has three aims: (1) to determine selected details about AS in the study group (age, gender and country of residence of the suicide tourists, the organisation involved, the ingested substance leading to death and any diseases that were the main reason for AS); (2) to find out the countries from which suicide tourists come and to review existing laws in the top three in order to test the hypothesis that suicide tourism leads to the amendment of existing regulations in foreign countries; and (3) to compare our results with those of earlier studies in Zurich. We did a retrospective data analysis of the Zurich Institute of Legal Medicine database on AS of non-Swiss residents in the last 5 years (2008-2012), and internet research for current legislation and political debate in the three foreign countries most concerned. We analysed 611 cases from 31 countries all over the world. Non-terminal conditions such as neurological and rheumatic diseases are increasing among suicide tourists. The unique phenomenon of suicide tourism in Switzerland may indeed result in the amendment or supplementary guidelines to existing regulations in foreign countries.


Asunto(s)
Comparación Transcultural , Política de Salud/legislación & jurisprudencia , Accesibilidad a los Servicios de Salud/legislación & jurisprudencia , Turismo Médico , Suicidio Asistido/legislación & jurisprudencia , Academias e Institutos , Adulto , Anciano , Femenino , Francia/epidemiología , Alemania/epidemiología , Humanos , Masculino , Turismo Médico/legislación & jurisprudencia , Competencia Mental , Persona de Mediana Edad , Derechos del Paciente/legislación & jurisprudencia , Proyectos Piloto , Suicidio Asistido/ética , Suicidio Asistido/estadística & datos numéricos , Suiza/epidemiología , Reino Unido/epidemiología
18.
Mol Cell Probes ; 29(1): 31-4, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25449952

RESUMEN

Sudden infant death syndrome (SIDS) is currently the major cause of an unexpected and unexplained death of infants in the first year of lifetime in industrialized countries. Besides environmental factors also genetic factors have been identified as risk factors for SIDS. Notably, the mutation c.457dupG (p.Glu153Glyfs*17) in the TSPYL1 gene has been reported to cause autosomal recessive sudden infant death with dysgenesis of the testes syndrome (SIDDT) in an Old Order Amish community in Pennsylvania. The purpose of this study was to analyze whether variants of TSPYL1 are associated with the sudden infant death syndrome (SIDS) in the area of Europe from which the Amish descended. Mutation analysis of the entire TSPYL1 gene was performed in a cohort of 165 SIDS cases with mostly Swiss ethnic origin, in comparison to 163 German controls. Eight known polymorphisms were detected, none of which was significantly associated with SIDS. One deceased girl was heterozygous for the hitherto unreported TSPYL1 variant c.106C>G (p.Leu36Val), and two affected girls were heterozygous for the rare known TSPYL1 variant rs140756663 (c.1098C>A, p.Phe366Leu). In addition, one deceased boy was heterozygous for the rare common silent nucleotide substitution c.718C>T (p.Leu240Leu, rs150144081), while one control was heterozygous for the rare silent nucleotide substitution rs56190632 (c.760C>T; p.Leu254Leu). In silico analyses predicted a likely non-pathogenic effect for p.Leu36Val and p.Phe366Leu, respectively, although protein features might be affected. The Amish founder mutation was not detected in the analyzed SIDS cases and controls. Mutations and polymorphisms in the TSPYL1 gene were not associated with SIDS in a cohort of 165 deceased Swiss infants.


Asunto(s)
Proteínas Nucleares/genética , Muerte Súbita del Lactante/genética , Población Blanca/etnología , Población Blanca/genética , Estudios de Casos y Controles , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Alemania , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Polimorfismo de Nucleótido Simple , Muerte Súbita del Lactante/etnología , Muerte Súbita del Lactante/patología , Suiza
19.
J Forensic Sci ; 59(6): 1650-3, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24975687

RESUMEN

Catecholamines, especially noradrenalin, are essential in the control of respiration and arousal. Thus, an impaired production of these neurotransmitters may contribute to the occurrence of sudden infant death syndrome (SIDS). The first step of the noradrenergic synthesis pathway is catalyzed by the enzyme tyrosine hydroxylase (TH). The TH-encoding gene contains a tetrameric short tandem repeat in intron 1 (TH01), with allele 9.3 reported to be associated with SIDS in German infants. We investigated the allelic frequency of the TH01 marker in 171 Swiss SIDS infants and 500 healthy and gender-matched Caucasian adults. In our study population, the allelic frequency of the 9.3 allele is similarly distributed in SIDS cases and controls (27.2% vs. 25.6%; p-value = 0.562). Nevertheless, the TH-encoding gene is only one of several genes involved in the noradrenergic biosynthesis pathway. Therefore, further genetic investigations are required with focus on the whole noradrenergic signaling system.


Asunto(s)
Frecuencia de los Genes , Muerte Súbita del Lactante/epidemiología , Tirosina 3-Monooxigenasa/genética , Población Blanca/genética , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Marcadores Genéticos , Humanos , Lactante , Recién Nacido , Masculino , Repeticiones de Microsatélite , Factores de Riesgo , Suiza/epidemiología
20.
Pediatr Res ; 76(1): 41-5, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24727946

RESUMEN

BACKGROUND: Failure in the regulation of homeostatic water balance in the brain is associated with severe cerebral edema and increased brain weights and may also play an important role in the pathogenesis of sudden infant death syndrome (SIDS). We genotyped three single-nucleotide polymorphisms in the aquaporin-4 water channel-encoding gene (AQP4), which were previously shown to be associated with (i) SIDS in Norwegian infants (rs2075575), (ii) severe brain edema (rs9951307), and (iii) increased brain water permeability (rs3906956). We also determined whether the brain/body weight ratio is increased in SIDS infants compared with sex- and age-matched controls. METHODS: Genotyping of the three AQP4 single-nucleotide polymorphisms was performed in 160 Caucasian SIDS infants and 181 healthy Swiss adults using a single-base extension method. Brain and body weights were measured during autopsy in 157 SIDS and 59 non-SIDS infants. RESULTS: No differences were detected in the allelic frequencies of the three AQP4 single-nucleotide polymorphisms between SIDS and adult controls. The brain/body weight ratio was similarly distributed in SIDS and non-SIDS infants. CONCLUSION: Variations in the AQP4 gene seem of limited significance as predisposing factors in Caucasian SIDS infants. Increased brain weights may only become evident in conjunction with environmental or other genetic risk factors.


Asunto(s)
Acuaporina 4/genética , Encéfalo/patología , Polimorfismo de Nucleótido Simple , Muerte Súbita del Lactante/genética , Muerte Súbita del Lactante/patología , Autopsia , Peso Corporal , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Tamaño de los Órganos
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