Quantitative high-resolution genomic analysis of single cancer cells.

During cancer progression, specific genomic aberrations arise that can determine the scope of the disease and can be used as predictive or prognostic markers. The detection of specific gene amplifications or deletions in single blood-borne or disseminated tumour cells that may give rise to the development of metastases is of great clinical interest but technically challenging. In this study, we present a method for quantitative high-resolution genomic analysis of single cells. Cells were isolated under permanent microscopic control followed by high-fidelity whole genome amplification and subsequent analyses by fine tiling array-CGH and qPCR. The assay was applied to single breast cancer cells to analyze the chromosomal region centred by the therapeutical relevant EGFR gene. This method allows precise quantitative analysis of copy number variations in single cell diagnostics.

[Murder without a body or "just" an unusual case of child abuse?]. / Mord ohne Leiche oder "nur" ein ungewöhnlicher Fall von Kindesmisshandlung?

A nine-year old boy was placed in a foster family--allegedly because of neglect after his mother had died in a car accident. Abnormal behaviour and the discovery of a photograph showing the boy naked from the waist down made the foster mother suspect sexual abuse. When she asked the boy to tell her the truth, the boy dictated a shocking story into her dictating machine. He described in detail how his mother had been killed and dismembered by her life partner in the bathtub with a saw before his eyes. Police investigations showed that the mother was not registered as deceased and that a suspicious neighbour had actually filed reports with the police months before because the man had given different versions on the alleged fatal accident of the mother. When the apartment was searched and evidence was collected, a bow saw with blood stains was found along with dental crowns in the bathtub drain. In spite of the boy's detailed statement where his mother's partner had allegedly disposed of her body parts she was never found. Four years later, a charge for manslaughter was brought against him. The unusual sentence--three years and 10 months' imprisonment for abuse of a person committed to his care-- was decisively influenced by the credibility assessment of the child's statement according to which the description given by the boy was based on a real event he had experienced.

Nonaccidental head injury is the most common cause of subdural bleeding in infants <1 year of age.

OBJECTIVE: Subdural bleeding (SDB) in infants is considered an essential symptom of nonaccidental head injury (NAHI). Recently, this view has been challenged by the "unified hypothesis," which claims that SDB in infants is related to hypoxia and brain swelling rather than to traumatic shearing of bridging veins. We analyzed a large series of infants' autopsies for the presence and causes of SDB, which should be a common event according to the unified hypothesis. METHODS: Autopsy, clinical, and legal information for infants <1 year of age from a single institution over 50 years were analyzed regarding cause of death, presence, morphology, and cause of SDB, and brain weight. RESULTS: From a total of 16 661 autopsies during the study period, 715 (4.3%) involved infants <1 year of age. Fifty (7.0%) of those had SDB. NAHI was identified in 17 patients. The most common cause of SDB was trauma (15 cases [30.0%]), with NAHI accounting for 14 cases. SDB was present in 82.4% of patients with NAHI but only 5.2% of infants with other causes of death. Four patients (8.0%) had unexplained SDB with no discernible cause of bleeding. Statistical analysis did not reveal any correlation between the presence of SDB and brain weight. CONCLUSIONS: In the study population, unexplained SDB in infants was an extreme rarity. Moreover, a correlation between brain swelling and the presence of SDB could not be drawn. Our data argue strongly against the unified hypothesis and strengthen the association between SDB and NAHI in infancy.

[Infanticide by throwing the child from the 10th floor of a building]. / Kindstötung durch Wurf aus dem 10. Stock.

Childbirth after denial or concealment of pregnancy has an increased risk of mortality for both mother and child. Interdisciplinary cooperation between professional groups is needed to explore the psychological and criminological aspects of infanticide. The case of a primipara mother, who threw her mature and viable newborn from the 10th floor of a high-rise building shortly after a concealed pregnancy, is reported. Forensic medical issues, as well as the characteristics of the offence and the perpetrator, are described.