New alleles and mutational events at 14 STR loci from different German populations

The molecular origin of DNA mutations and the mutation rates were analyzed at 14 short tandem repeat (STR) loci with samples from trio cases derived from 10 different German population samples. STR loci comprised of D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, D19S246, D20S480, D21S226, and D22S689. In a total of 488 meioses, 16 isolated genetic inconsistencies in 8 different STRs were observed, whereas no mutations were found at the other loci. The data of five mutations suggested the presence of silent or null alleles due to sequence variation in primer binding site. This could be confirmed for four suspected cases by the use of alternative primer sets and by DNA sequence analyses. Furthermore, this study revealed nine new allelic variants at five different loci.     

Psychiatric disorders and management of sexual offenders in the prison psychiatric consultation unit of Marseille

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.     

Distinct age-related differences among victims in cases of suspected child abuse

Evidence describing age-related differences among children with suspected physical and sexual child abuse is lacking. We describe findings in severe cases of suspected abuse. Cases with 756 children <15 years old were included during 2001–2013 at the Department of Forensic Medicine, Aarhus University, using forensic evaluation documents, medical records, and court proceedings. Eight percent of children <4 years old died from child abuse, 36% through violence resulting in death, and 64% by manslaughter, whereas 1% > 4 years old died, solely by manslaughter. External injuries were mainly located to head and torso in children <4 years old, changing to the upper and lower extremities in older children. Child sexual abuse was suspected in 52% of cases with living children <4 years old, 83% of children 4–7 years of age, 88% of children 8–11 years of age, and 93% of children >12 years old. Anogenital findings were mainly caused by other medical conditions in children <4 years old, hymenal clefts in the superior half of the hymenal rim were almost exclusively found in children between 8 and 11 years of age, whereas both superficial and complete hymenal clefts in the inferior half of the hymenal rim were found in children >12 years old. The present study describes age-related differences in victims of suspected child abuse. Fatal versus nonfatal child physical abuse and the significance of hymenal findings in child sexual abuse could be studied further.     

About morphological findings in fatal railway collisions

The autopsy findings in fatal cases of railway collisions of the Bonn Institute of Legal Medicine in 1992-1999 were investigated and compared to the statements in the investigation files of the public prosecutor with regard to classification as accident or suicide as well as with regard to type and speed of collision. Of the 38 deaths, 10 were hit in an upright position, 11 fatal collisions affected persons lying outside the track and 13 were hit and overrun lying inside the track. According to the investigation classification 21 persons committed suicide (56%), while 10 died in an accident (26%). Our survey confirmed the leading role of being over-rolled in a lying position as an indication for suicides, while in accidents the upright hit was most important. With exception of the persons primarily affected between the rails in upright position and over-rolled consecutively an unequivocal assignment of injury patterns to the hit categories was possible. In cases of persons being primarily over-rolled in a lying position especially the criteria (i) opening of body cavities, (ii) organ injuries and (iii) loss of parts of the body allowed for careful conclusion on hit, respectively, overrunning speed.     

Genetic variation and population genetic data of the short tandem repeat locus D8S320

The locus D8S320 is an STR system first described in 1993 as a simple (AAAG) repeat. Sequencing data revealed that the D8S320 locus is a complex STR system consisting of (AAAG)- and (AAAC)-repeat units. A total of 22 different alleles were found in a population survey of 210 unrelated individuals from the Rhine area with frequencies ranging from <0.01 to 0.198. The population data revealed the existence of variant alleles differing by 1 and 2bp from the consensus allele. Due to the complex repeat structure consisting of three variable regions and one constant region, electrophoresis under denaturing conditions is strongly recommended. The statistical values were calculated to be 0.89 (observed heterozygosity rate), 0.96 (discrimination index) and 0.71 (mean exclusion chance). No deviation from Hardy-Weinberg equilibrium (HWE) was observed.     

Lympho-monocytic enteroviral myocarditis: traditional, immunohistological and molecularpathological methods for diagnosis in a case of suspected sudden infant death syndrome (SIDS)

A 7-month-old boy was found lifeless in his bed by his grandfather. Near the mouth there were some blood and chyme on the bedlinen. His mother reported a chill during the last 8 days. Autopsy revealed multiple petechia under the capsule of the thymus, subepicardially and subpleurally, the cause of death was tentative supposed to be a sudden infant death. Histologically parts of the myocardium showed a lympho-monocytic myocarditis according to the DALLAS-criteria. Immunohistological investigations demonstrated an enhanced expression of MHC class II antigens, an increased number of leucocytes as well as T-lymphocytes. In situ hybridization and immunohistochemistry revealed myocardial enterovirus infection. Considering that there were regions in the myocardium without the traditional findings of myocardial necrosis and inflammation but with distinct expression of the above mentioned immunohistologic markers, immunohistological investigations turn out to be an appropriate tool to examine infant fatalities with uncertain cause of death for early stages of myocarditis.     

Applicability of succinylmonocholine as a marker for succinylcholine administration--comparative analysis of samples from a fatal succinylcholine-intoxication versus postmortem control specimens

Doubts concerning the applicability of succinylmonocholine (SMC) as a succinylcholine (SUX) marker have been issued. A comparative analysis of previously discussed tissues, i.e. brain, liver and kidney, was conducted to further elucidate this question by searching for diagnostically useful differences in analyte content in samples of SUX- versus non-SUX-associated fatalities. Furthermore, possible advantages of vitreous humor as a novel and promising target matrix for SUX analytics were assessed. Sample material of SUX-negative controls as well as the fatal SUX-intoxication was derived from frozen archive material and current autopsies. Samples were analyzed according to a modified protocol of a previously published and validated method employing ion-pairing solid-phase extraction and subsequent HPLC-MS/MS analysis. Standard addition was employed for quantification as well as an estimation of the analytical limits of the method. In all tested matrices, the method was proven to be sufficiently sensitive for the intended application. No indication of native SMC was found in controls of fresh tissues, nor in fresh or frozen vitreous humor. However, most of the samples were found to be positive for a previously reported interference with SMC's main ion transition, thereby falsely suggesting an SMC content of up to 139 ng/g, 126 ng/g, 165 ng/g and 93 ng/ml in brain, liver, kidney and vitreous humor, respectively. Contrasting the results for fresh sample material, SMC was detectable in some of the initially non-putrefied liver samples after long-term storage, as well as in massively decomposed SUX-negative control bodies. In this context, a microbial origin of the analyte may be assumed. All tissues as well as the vitreous humor of the fatal SUX-intoxication were negative for SUX and SMC. Just like serum, tissue and vitreous humor samples therefore do not allow a reliable diagnosis of a SUX-intoxication: in tissues this is due to the pronounced instability of both target analytes in these esterase-containing matrices, for vitreous humor an additional reason could be their insufficient incorporation into this medium.