A systematic investigation of human DNA preservation in medieval skeletons.

Ancient DNA (aDNA) analyses necessitate the destructive sampling of archaeological material. Currently, the cochlea, part of the osseous inner ear located inside the petrous pyramid, is the most sought after skeletal element for molecular analyses of ancient humans as it has been shown to yield high amounts of endogenous DNA. However, destructive sampling of the petrous pyramid may not always be possible, particularly in cases where preservation of skeletal morphology is of top priority. To investigate alternatives, we present a survey of human aDNA preservation for each of ten skeletal elements in a skeletal collection from Medieval Germany. Through comparison of human DNA content and quality we confirm best performance of the petrous pyramid and identify seven additional sampling locations across four skeletal elements that yield adequate aDNA for most applications in human palaeogenetics. Our study provides a better perspective on DNA preservation across the human skeleton and takes a further step toward the more responsible use of ancient materials in human aDNA studies.

Petrous apex non-secretory plasma cell myeloma with aberrant cytokeratin expression.

Multiple myeloma is a monoclonal proliferation of plasma cells with common involvement of vertebrae, ribs and skull vault. However, involvement of skull base is relatively uncommon and myeloma manifesting initially as a petrous apex mass is distinctly rare. We report a rare case of non-secretory multiple myeloma in a 52-year-old Egyptian male presenting primarily as a right petrous apex mass with abducens nerve palsy. Additionally, neoplastic cells aberrantly expressed cytokeratin. Although rare, plasma cell myeloma should be considered in the differential diagnosis of petrous apex masses.

Genome-Wide DNA from Degraded Petrous Bones and the Assessment of Sex and Probable Geographic Origins of Forensic Cases.

The acquisition of biological information and assessment of the most probable geographic origin of unidentified individuals for obtaining positive identification is central in forensic sciences. Identification based on forensic DNA, however, varies greatly in relation to degradation of DNA. Our primary aim is to assess the applicability of a petrous bone sampling method in combination with Next Generation Sequencing to evaluate the quality and quantity of DNA in taphonomically degraded petrous bones from forensic and cemetery cases. A related aim is to analyse the genomic data to obtain the molecular sex of each individual, and their most probable geographic origin. Six of seven subjects were previously identified and used for comparison with the results. To analyse their probable geographic origin, samples were genotyped for the 627.719 SNP positions. Results show that the inner ear cochlear region of the petrous bone provides good percentages of endogenous DNA (14.61-66.89%), even in the case of burnt bodies. All comparisons between forensic records and genetic results agree (sex) and are compatible (geographic origin). The application of the proposed methodology may be a powerful tool for use in forensic scenarios, ranging from missing persons to unidentified migrants who perish when crossing borders.

Development of cholesterol granuloma in a temporal bone petrous apex previously containing marrow exposed to air cells.

OBJECTIVE: There is ongoing debate on the pathogenic mechanisms of cholesterol granuloma formation in the temporal bone. The purpose of this report is to provide evidence in support of the exposed marrow hypothesis in explaining the pathogenesis of petrous apex cholesterol granuloma. STUDY DESIGN: Retrospective single case study. MAIN OUTCOME MEASUREMENT: The primary outcome evaluated was the diagnosis of a new cholesterol granuloma in a petrous apex that previously demonstrated radiologic evidence of bone marrow exposed to petrous apex air cells. RESULTS: A patient with a unilateral petrous apex cholesterol granuloma develops a new, contralateral cholesterol granuloma in a hyperpneumatized temporal bone petrous apex shown previously to have medullary bone exposed to air cells. CONCLUSION: This report implicates the medullary-air cell interface in a hyperaerated temporal bone petrous apex in the development and growth of a petrous apex cholesterol granuloma.

Endolymphatic sac tumor: staged endovascular-neurosurgical approach.

Endolymphatic sac tumors are rare, low-grade adenocarcinomas of the petrous bone. These tumors are highly vascularized and surgical removal is often challenging. We present a staged endovascular-neurosurgical approach consisting of stent-assisted angioplasty of the petrous carotid, selective endovascular embolization and surgical removal.

'Leave me alone' lesions of the petrous apex.

PURPOSE: When troublesome MR imaging findings are noted in the petrous apex, the radiologist must determine if the area in question needs surgical therapy. Two nonsurgical entities, asymmetric fatty marrow and fluid-filled petrous air cells (trapped fluid), can be noted on conventional brain MR images and confused with pathologic lesions. Our observation that radiologists do not always confidently define the nonsurgical petrous apex lesions precipitated this investigation. METHODS: Twenty-three patients with either asymmetric fatty marrow (six) or unilateral effusion in a pneumatized petrous apex (17) on MR images were studied. Eighteen patients underwent high-resolution temporal bone CT. For all patients, the medical charts were reviewed retrospectively and/or the surgical and clinical follow-up findings were reviewed with the referring physician. RESULTS: In the patients with asymmetric fatty marrow, MR signal intensity followed fat on all sequences. The questioned apex in the patients with trapped fluid showed mixed MR signal characteristics (low to high T1 signal, high T2 signal). CT scans confirmed nonexpansile air-cell opacification. CONCLUSION: Asymmetric fatty marrow in the petrous apex and petrous air-cell effusions have characteristic MR and CT features that facilitate their correct diagnosis. Effusions with intermediate or high T1 signal are most frequently confused with cholesterol granulomas. In those patients, long-term CT follow-up may be helpful to confirm their stability.