Massive Perivillous Fibrin Deposition of an Enterovirus A-Infected Placenta Associated With Stillbirth: A Case Report.

Massive perivillous fibrin deposition (MFD) is a morphologically defined severe placental lesion associated with perinatal morbidity and mortality. The etiology is unknown, and recurrence risk in subsequent pregnancies is assumed to be high. In most cases, a pathologic immune reaction is supposed to be responsible for the lesion. We report a case of a pregnant woman's suffering from hand, foot, and mouth disease in the 20th gestational week. Subsequently, MFD developed in the placenta and was followed by intrauterine growth restriction and stillbirth in the 29th gestational week. Enterovirus A with high homology to Coxsackievirus A16 was detected in the placenta by means of immunohistochemisty and reverse transcription polymerase chain reaction. This infection could be a rare cause of MFD and should be taken into consideration in the differential diagnosis of the individual etiology. Recurrence risk of virus-related MFD is expected to be lower than in MFD without infectious association.

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?

KBG syndrome is a rare autosomal dominant disorder caused by constitutive haploinsufficiency of the ankyrin repeat domain-containing protein 11 (ANKRD11) being the result of either loss-of-function gene variants or 16q24.3 microdeletions. The syndrome is characterized by a variable clinical phenotype comprising a distinct facial gestalt and variable neurological involvement. ANKRD11 is frequently affected by loss of heterozygosity in cancer. It influences the ligand-dependent transcriptional activation of nuclear receptors and tumor suppressive function of tumor protein TP53. ANKRD11 thus serves as a candidate tumor suppressor gene and it has been speculated that its haploinsufficiency may lead to an increased cancer risk in KBG syndrome patients. While no systematic data are available, we report here on the second KBG syndrome patient who developed a malignancy. At 17 years of age, the patient was diagnosed with a left-sided paratesticular extrarenal malignant rhabdoid tumor. Genetic investigations identified a somatic truncating gene variant in SMARCB1, which was not present in the germline, and a constitutional de novo 16q24.3 microdeletion leading to a loss of the entire ANKRD11 locus. Thus, KBG syndrome was diagnosed, which was in line with the clinical phenotype of the patient. At present, no specific measures for cancer surveillance can be recommended for KBG syndrome patients. However, a systematic follow-up and inclusion of KBG syndrome patients in registries (e.g., those currently established for cancer prone syndromes) will provide empiric data to support or deny an increased cancer risk in KBG syndrome in the future.

Computed Tomography-Detected Paleopathologies in Ancient Egyptian Mummies.

OBJECTIVE: Computed tomography (CT)-based analyses of mummies have been performed since the 1970s but, until now, no systematic summary of PubMed®-published data has been performed. The aim was to perform a systematic review of previously published cases and summarize artificial changes and detectable paleopathologies. MATERIALS AND METHODS: Data collection from publications on CT analyses of mummies from ancient Egypt until the Greco-Roman period (up to 700 ad) from the PubMed® database (1973-2013) and descriptive data analysis. RESULTS: Forty-seven publications on CT-based analyses have been identified, which reported on 189 mummies. Commonly reported artificial changes were destruction of the nasal bone and left-sided lateral abdominal incision for removal of inner organs. Dental and jaw pathologies (n = 42), chronic degenerative changes of skeletal bones (n = 39), and arteriosclerosis (n = 36) were reported in a subfraction of cases while traumatic fractures (n = 16) and other diseases were less often identified. The cause of death was rarely detectable by CT, but a cut through the throat, arrowheads, and bone fracture could be verified by CT. CONCLUSION: Standards in documentation of CT devices have changed over the past 40 years, and insufficient documentation limits the interpretation of findings. In ancient Egyptian mummies, most organs have been removed during the mummification process while teeth and jaws are often preserved. Dental pathologies were frequent in ancient Egypt and can indicate personal circumstances and diet. The cause of death is rarely verifiable, but CT scan could be the clue. Although well known in Egyptian mummies, artificial changes may lead to misinterpretation of CT findings.

Meta-analysis of teeth from European populations before and after the 18th century reveals a shift towards increased prevalence of caries and tooth loss.

Based on single studies, it has been hypothesised that Europeans have suffered less frequently from caries before the 18th century than after the 18th century and that females have higher caries prevalence, but systematic European-wide overviews are sparse. We collected published data on dental diseases (publication between 1981 and 2015 with reports on 29 cohorts with 4998 individuals and a total of 85817 teeth). Meta-analyses revealed that, over several hundred years, including the post-18th century era, Europeans had relatively constant frequencies of caries and ante-mortem tooth loss, but since the 18th century, the mean frequencies of these dental diseases increased (each p<0.05). Tooth loss correlated with caries and odontogenic abscesses (each p<0.05). Although the mean caries and ante-mortem tooth loss frequencies increased since the 18th century, there are overlaps with many pre-18th century cohorts. In addition, in contrast to previous hypotheses, no general increase of caries prevalence in females could in fact be verified. It is likely that changes in nutrition (more sugar) and dental health (possibly higher frequency of tooth extraction) could be the underlying factors which led to this minor to moderate shift of dental disease frequencies in Europe.