Wade, A. D., R. Beckett, G. Conlogue, G. Garvin, S. Saleem, G. Natale, D. Caramella, and A. Nelson, "Diagnosis by consensus: A case study in the importance of interdisciplinary interpretation of mummified remains.", International journal of paleopathology, vol. 24, issue March, pp. 144-153, 2018 Oct 30, 2019. Abstract

OBJECTIVE: The goal of this study is to demonstrate the need for interdisciplinary consensus and inclusion of mummy radiology specialists in analyses of mummified remains.

MATERIALS: This study uses paleoimaging data for an ancient Egyptian mummy at the Museum of Human Anatomy "Filippo Civinini".

METHODS: This study demonstrates the benefit of evaluation of mummified remains in a multi-disciplinary interpretive team.

RESULTS: The authors propose a diagnosis of DISH, additional signs of undifferentiated spondyloarthropathy, and lumbarisation of S1.

CONCLUSIONS: The process of diagnosis by consensus is essential to the analysis of mummified remains, which are complexly altered through natural and anthropogenic processes in the millennia subsequent to the individual's death.

SIGNIFICANCE: Mummy paleoimaging and paleopathology lacks a unifying set of standards. We present an example of the value to be found in the multi-disciplinary diagnosis by consensus approach.

LIMITATIONS: We discuss numerous challenges to accurate and meaningful interpretation that radiography of mummified remains pose.

SUGGESTIONS FOR FURTHER RESEARCH: While the authors do not seek to impose any single set of standards, we do recommend a larger discussion on the topic of (culture-specific) standardisation in mummy paleoimaging and paleopathology. We further recommend the development of an international, multi-disciplinary panel of paleoimaging interpreters.

Guemez-Gamboa, A., A. O. Çağlayan, V. Stanley, A. Gregor, M. S. Zaki, S. N. Saleem, D. Musaev, J. McEvoy-Venneri, D. Belandres, N. Akizu, et al., "Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.", Annals of neurology, vol. 84, issue 5, pp. 638-647, 2018 Nov. Abstract

OBJECTIVE: To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome.

METHODS: Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression.

RESULTS: All patients showed biallelic mutations in the nonclustered protocadherin-12 (PCDH12) gene. The characteristic clinical presentation included progressive microcephaly, craniofacial dysmorphism, psychomotor disability, epilepsy, and axial hypotonia with variable appendicular spasticity. Brain imaging showed brainstem malformations and with frequent thinned corpus callosum with punctate brain calcifications, reflecting expression of PCDH12 in neural and endothelial cells. These cells showed lack of PCDH12 expression and impaired neurite outgrowth.

INTERPRETATION: DMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.

Nabhan, M. M., N. Elkhateeb, D. A. Braun, S. Eun, S. N. Saleem, H. Y. Gee, F. Hildebrandt, and N. A. Soliman, "Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature", ة American Journal of Medical Genetics Part A, vol. 173, issue 10, pp. 2697-2702, 2017.
Saleem, S. N., "How to read and to report a fetal MRI examination", MR of fetal and maternal diseases in pregnancy, Berlin, Springer-Verlag , 2016.
Hawass, Z., and S. N. Saleem, Scanning the pharaohs: CT imaging of the New Kingdom Royal Mummies, , New York, AUC Press, 2016.
Saleem, S. N., and Z. Hawass, "Computed tomography study of the feet of mummy of Ramesses III: New insights on the Harem Conspiracy", J Comput Assist Tomogr , vol. Sept , issue 41, pp. 15-17, 2017.
Said, A. H., E. El-Kattan, M. S. Abdel-Hakeem, and H. A. El-Khayat, "In utero MRI diagnosis of fetal malformations in oligohydramnios pregnancies", EJRNM, vol. 47, issue 4, pp. 1733-1742, 2016. oligo_ejrnm_2016.pdf
Saleem, S. N., and Z. Hawass, "Subcutaneous packing in Royal Egyptian mummies dated from 18th to 20th Dynasties", J Comput Assist Tomogr , vol. 39, issue 3, pp. 301-306, 2015.

Coming soon!

My book (Scanning the Pharaohs) co-authored by Zahi Hawass.

September 1st, 2015

http://www.aucpress.com/p-4952-scanning-the-pharaohs.aspx

Wade, A. D., R. Beckett, G. Conlogue, G. Garvin, S. Saleem, G. Natale, D. Caramella, and A. Nelson, "Diagnosis by consensus: Interpreting mummified pathological conditions", American Journal of Physical Anthropology, vol. 156, pp. 315-316, 2015.