HPA axis dysregulation is associated with differential methylation of CpG-sites in related genes.

DNA methylation shifts in Hypothalamic-pituitary-adrenal (HPA) axis related genes is reported in psychiatric disorders including hypersexual disorder. This study, comprising 20 dexamethasone suppression test (DST) non-suppressors and 73 controls, examined the association between the HPA axis dysregulation, shifts in DNA methylation of HPA axis related genes and importantly, gene expression. Individuals with cortisol level ≥ 138 nmol/l, after the low dose (0.5 mg) dexamethasone suppression test (DST) were classified as non-suppressors. Genome-wide methylation pattern, measured in whole blood using the EPIC BeadChip, investigated CpG sites located within 2000 bp of the transcriptional start site of key HPA axis genes, i.e.: CRH, CRHBP, CRHR-1, CRHR-2, FKBP5 and NR3C1. Regression models including DNA methylation M-values and the binary outcome (DST non-suppression status) were performed. Gene transcripts with an abundance of differentially methylated CpG sites were identified with binomial tests. Pearson correlations and robust linear regressions were performed between CpG methylation and gene expression in two independent cohorts. Six of 76 CpG sites were significantly hypermethylated in DST non-suppressors (nominal P < 0.05), associated with genes CRH, CRHR1, CRHR2, FKBP5 and NR3C1. NR3C1 transcript AJ877169 showed statistically significant abundance of probes differentially methylated by DST non-suppression status and correlated with DST cortisol levels. Further, methylation levels of cg07733851 and cg27122725 were positively correlated with gene expression levels of the NR3C1 gene. Methylation levels of cg08636224 (FKBP5) correlated with baseline cortisol and gene expression. Our findings revealed that DNA methylation shifts are involved in the altered mechanism of the HPA axis suggesting that new epigenetic targets should be considered behind psychiatric disorders.

Autoerotic deaths: report of two unusual cases.

Autoerotic death is a rare but recurring phenomenon in forensic medicine. This article presents two cases of unusual autoerotic death with signs of autoerotic asphyxia. Although the first case appeared to be asphyxia, the autopsy confirmed natural cause of death during solitary sexual activity of 69-year-old man found with exposed and bandaged genitals. The other case was asphyxiation utilizing a plastic bag and multiple panties wrapped around the head of 18-year-old man disguised in women´s dress.

[Death by erotic asphyxiation (breath control play)]. / Tod durch Atemreduktion.

Most cases of sexual asphyxia are due to autoerotic activity. Asphyxia due to oronasal occlusion is mostly seen in very old or very young victims. Oronasal occlusion is also used in sadomasochistic sexual practices like "breath control play" or "erotic asphyxiation". If life saving time limitations of oronasal occlusion are not observed, conviction for homicide caused by negligence is possible.

La patologización del deseo: apuntes críticos en torno a la coerción de la identidad y del placer / A patologização do desejo: anotações críticas sobre a coerção da identidade e do prazer / The pathologization of desire: critic notes regarding the coercion of identity and pleasure

El presente artículo busca determinar las principales propiedades teóricas y prácticas que se derivan del discurso patológico contemporáneo, asociado al dispositivo del "hacer psi", así como sus concomitantes consecuencias para la sociedad. En este sentido, se desarrolla una reflexión en torno a los ejes esenciales en los que se enmarca la sección de "Trastornos Sexuales" del Manual Diagnóstico y Estadístico de los Trastornos Mentales de la Asociación Americana de Psiquiatría (DSM-IV-TR), específicamente en lo que se refiere a la patologización de las identidades no heterosexuales en un término amplio y las llamadas parafilias. De este modo, el propósito del artículo consiste en llevar a cabo una discusión respecto al valor diagnóstico de las categorías nosológicas actuales sobre la sexualidad, procurando así desentrañar la lógica que les es inherente. Dicha lógica busca regular el deseo y estandarizar el placer, de forma algunas veces subrepticia, pero muy persistente.

The present article refers to the main theoretical and practical properties that are derived from the contemporaneous pathological discourse, regarding the "psy" apparatus, and their concomitant consequences for society. In these sense, a reflection is developed around the essential axes of the "Sexual Disorders" section from The Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association (DSM-IV-TR), concerning specifically the pathologization of the nonheterosexual identities in a wide term, and the so called paraphilias. Therefore, the purpose of this article is to discuss the value of the current nosological categories about sexuality. In order to do so, the main focus is to unravel their inherent logic that tries to regulate desire and standardize pleasure, in a hidden, but persistent manner.

O presente artigo procura determinar as principais propriedades teóricas e práticas derivadas do discurso patológico contemporâneo, associado ao dispositivo do "fazer psi", assim como suas concomitantes consequências para a sociedade. Neste sentido, se faz uma reflexão dos eixos essenciais que estruturam a seção de "transtornos sexuais" do Manual Diagnóstico e Estatístico dos Transtornos Mentais da Associação Americana de Psiquiatria (DSM-IV-TR), especificamente no que se refere à patologização das identidades não heterossexuais num termo amplo e as chamadas parafilias. Desta maneira, o propósito do presente artigo consiste em efetuar uma discussão a respeito do valor diagnóstico das categorias nosológicas atuais sobre a sexualidade, procurando assim desentranhar a lógica inerente a elas. Tal lógica busca regular o desejo e padronizar o prazer de forma às vezes sub-reptícia, mas muito persistente.

La patologización del deseo: apuntes críticos en torno a la coerción de la identidad y del placer / The pathologization of desire: critic notes regarding the coercion of identity and pleasure / A patologização do desejo: anotações críticas sobre a coerção da identidade e do prazer

El presente artículo busca determinar las principales propiedades teóricas y prácticas que se derivan del discurso patológico contemporáneo, asociado al dispositivo del "hacer psi", así como sus concomitantes consecuencias para la sociedad. En este sentido, se desarrolla una reflexión en torno a los ejes esenciales en los que se enmarca la sección de "Trastornos Sexuales" del Manual Diagnóstico y Estadístico de los Trastornos Mentales de la Asociación Americana de Psiquiatría (DSM-IV-TR), específicamente en lo que se refiere a la patologización de las identidades no heterosexuales en un término amplio y las llamadas parafilias. De este modo, el propósito del artículo consiste en llevar a cabo una discusión respecto al valor diagnóstico de las categorías nosológicas actuales sobre la sexualidad, procurando así desentrañar la lógica que les es inherente. Dicha lógica busca regular el deseo y estandarizar el placer, de forma algunas veces subrepticia, pero muy persistente.(AU)

The present article refers to the main theoretical and practical properties that are derived from the contemporaneous pathological discourse, regarding the "psy" apparatus, and their concomitant consequences for society. In these sense, a reflection is developed around the essential axes of the "Sexual Disorders" section from The Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association (DSM-IV-TR), concerning specifically the pathologization of the nonheterosexual identities in a wide term, and the so called paraphilias. Therefore, the purpose of this article is to discuss the value of the current nosological categories about sexuality. In order to do so, the main focus is to unravel their inherent logic that tries to regulate desire and standardize pleasure, in a hidden, but persistent manner.(AU)

O presente artigo procura determinar as principais propriedades teóricas e práticas derivadas do discurso patológico contemporâneo, associado ao dispositivo do "fazer psi", assim como suas concomitantes consequências para a sociedade. Neste sentido, se faz uma reflexão dos eixos essenciais que estruturam a seção de "transtornos sexuais" do Manual Diagnóstico e Estatístico dos Transtornos Mentais da Associação Americana de Psiquiatria (DSM-IV-TR), especificamente no que se refere à patologização das identidades não heterossexuais num termo amplo e as chamadas parafilias. Desta maneira, o propósito do presente artigo consiste em efetuar uma discussão a respeito do valor diagnóstico das categorias nosológicas atuais sobre a sexualidade, procurando assim desentranhar a lógica inerente a elas. Tal lógica busca regular o desejo e padronizar o prazer de forma às vezes sub-reptícia, mas muito persistente.(AU)

[Deaths during asphyxia induced to escalate sexual experience. Case reports]. / Zgony w przebiegu asfiksji wywolanej w celu eskalacji doznan seksualnych. Opisy przypadków.

The authors present two cases of deaths resulting from asphyxia of one of the partners in the act of intercourse to escalate their experience. The first case involved a heterosexual intercourse, in which a 30-year-old woman was led to state of hypoxia through choking and closing respiratory orifices. The other case represented a homosexual intercourse between two men, in which the victim's hands and legs were tied. Moreover, the partner put an open knot around the victim's neck and was holding it controlling the state of asphyxia, while performing an anal intercourse. Both presented victims practiced such paraphilia-associated behaviors in the past. The fact of sexual intercourse was confirmed in both cases by genetic analysis of the man's anus and the woman's oral cavity and vagina. This resulted in finding the genetic material of their partners. Escalating of sexual experience through inducing asphyxia of the nervous system is extremely dangerous and may result in death of one of the sexual partners, what has been proven by the present investigation.

Unusual phenomenology of autoerotic fatalities.

Between 1983 and 2003 forty accidental autoerotic deaths (all males, 13-79 years old) have been investigated at the Institute of Legal Medicine in Hamburg. Three cases with a rather unusual scenery are described in detail: (1) a 28-year-old fireworker was found hanging under a bridge in a peculiar bound belt system. The autopsy and the reconstruction revealed signs of asphyxiation, feminine underwear, and several layers of plastic clothing. (2) A 16-year-old pupil dressed with feminine plastic and rubber utensils fixed and strangulated himself with an electric wire. (3) A 28-year-old handicapped man suffered from progressive muscular dystrophy and was nearly unable to move. His bizarre sexual fantasies were exaggerating: he induced a nurse to draw plastic bags over his body, close his mouth with plastic strips, and put him in a rubbish container where he died from suffocation.

Hippocampal pathology in two mentally ill paraphiliacs.

Paraphilias or disorders of sexual behavior have markedly increased in prevalence during the last decade. Until now no published neuropathological studies on paraphilia have appeared in the medical literature. A computerized search was done on all available medical and autopsy records of a large urban hospital (St. Elizabeths Hospital, Washington, DC) for any mention of deviant sexual behavior. Cases were then reviewed for presence of a history consistent with DSM-IV diagnoses of paraphilia. Two such cases were identified. Neuropathological examination in both cases revealed simple cell atrophy of pyramidal cells confined to different hippocampal subfields. Reactive astrocytosis was present in the outer strata of the affected regions. The pathological changes in the hippocampus resemble those reported after persistent stress or long-term chronic glucocorticoid administration. The accompanying astrocytosis indicates a reactive, ongoing process. The findings suggest new therapeutic interventions in the treatment of paraphilia.

Acquired sexual paraphilia in patients with multiple sclerosis.

BACKGROUND: Sexual dysfunction in patients with multiple sclerosis is typically characterized by diminished libido, erectile and ejaculatory dysfunction in men, and poor lubrication and anorgasmy in women. In contrast, hypersexual behavior and paraphilias are distinctly uncommon in this population of patients, but have been associated with various focal brain lesions. PATIENT AND METHODS: We describe a man with clinically definite multiple sclerosis who developed profound and abrupt disinhibition and paraphilic behavior during an exacerbation. RESULTS: Neuroimaging revealed a marked increase in the number of enhancing lesions in the right sides of the hypothalamus and mesencephalon and extending into the right sides of the red nucleus, substantia nigra, and internal capsule. The altered sexual behavior was characterized by an obsessive and insatiable desire to touch women's breasts. CONCLUSIONS: Acquired sexual paraphilic behavior is uncommon in patients with multiple sclerosis but may occur when inflammatory demyelination involves the hypothalamic and septal regions of the basal prosencephalon. Our experience with this man illustrates the great difficulty involved in treating such patients when the paraphilic behavior becomes persistent.

Complete autoerotic asphyxiation: suicide or accident?

A case of a typical form of sexual asphyxiation is described, involving a young man hanging, in a context of autoerotic asphyxia. Multiple and different parameters are included in the definition.

Suicide by intrarectal gunshot wound.

In this report, a bizarre case of suicide is presented. The decedent, who had a history of various paraphilias, including sexual masochism and fetishism, died from a self-inflicted intrarectal gunshot wound.

Autoerotic asphyxial death--accident or suicide?

Death during autoerotic asphyxial activity is usually considered accidental due to unanticipated failure of the device that was used to induce hypoxia during sexual arousal. Two cases of hanging are reported in which apparently typical features of autoerotic asphyxial activity were present. As a result of the discovery of a suicide note in one case and the absence of certain characteristic features in the other, the deaths could not be designated accidental. Although the majority of deaths that occur during autoerotic asphyxial episodes are accidental, the possibility of suicide must always be entertained, even in cases that may initially appear typical.

Propane-associated autoerotic fatalities.

We describe 3 unusual autoerotic fatalities in which propane gas was used to induce hypoxia. To our knowledge, these are the first cases of their kind to be reported and described in depth, although brief references to similar cases have appeared. The case histories of 3 white males, aged 22, 42, and 62 years, are described with emphasis on the scene and circumstances and the identification of propane from autopsy materials. In one case, unusual paraphilia and multiple foreign bodies in the rectum were noted. These 3 cases illustrate an unusual form of autoerotic practice in which hypoxia is induced by propane inhalation, unlike the usual neck compression that has been previously described in depth. The importance of scene reconstruction and an awareness of this phenomenon is stressed.

Atypical autoerotic deaths.

So-called "typical" autoerotic fatalities are the result of asphyxia due to mechanical compression of the neck, chest, or abdomen, whereas "atypical" autoeroticism involves sexual self-stimulation by other means. We present five atypical autoerotic fatalities that involved the use of dichlorodifluoromethane, nitrous oxide, isobutyl nitrite, cocaine, or compounds containing 1-1-1-trichloroethane. Mechanisms of death are discussed in each case and the pertinent literature is reviewed.

Hypersexuality or altered sexual preference following brain injury.

Eight patients are described in whom either hypersexuality (four cases) or change in sexual preference (four cases) occurred following brain injury. In this series disinhibition of sexual activity and hypersexuality followed medial basal-frontal or diencephalic injury. This contrasted with the patients demonstrating altered sexual preference whose injuries involved limbic system structures. In some patients altered sexual behaviour may be the presenting or dominant feature of brain injury.