Publications

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Journal Article
Saleem, S. N., "Fetal Cardiac Magnetic Resonance (CMR)", Echocardiography-New, 2012. Abstract

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Saleem, S. N., "Fetal Magnetic Resonance Imaging (MRI): A Tool for a Better Understanding of Normal and Abnormal Brain Development.", Journal of Child Neurology , issue 13(7), pp. 889-907 , 2013. Abstractsaleem_journal_of_child_neurology_2013.pdf

Knowledge of the anatomy of the developing fetal brain is essential to detect abnormalities and understand their pathogenesis. Capability of magnetic resonance imaging (MRI) to visualize the brain in utero and to differentiate between its various tissues makes fetal MRI a potential diagnostic and research tool for the developing brain. This article provides an approach to understand the normal and abnormal brain development through schematic interpretation of fetal brain MR images. MRI is a potential screening tool in the second trimester of pregnancies in fetuses at risk for brain anomalies and helps in describing new brain syndromes with in utero presentation. Accurate interpretation of fetal MRI can provide valuable information that helps genetic counseling, facilitates management decisions, and guides therapy. Fetal MRI can help in better understanding the pathogenesis of fetal brain malformations and can support research that could lead to disease-specific interventions.

Saleem, S. N., A. H. Said, M. Abdel-Raouf, E. A. El-Kattan, M. S. Zaki, N. Madkour, and M. Shokry, "Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): impact on diagnosis and management decision", Neuroradiology, vol. 51, no. 11: Springer, pp. 761–772, 2009. Abstract
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Saleem, S. N., A. H. Said, M. Abdel-Raouf, E. A. El-Kattan, M. S. Zaki, N. Madkour, and M. Shokry, "Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): impact on diagnosis and management decision", Neuroradiology, vol. 51, no. 11: Springer, pp. 761–772, 2009. Abstract
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Saleem, S. N., "Fetal MRI: An approach to practice", Journal of Advanced Research, vol. 5, issue 5, pp. 507-523, 2014. Abstractjar_2013_article.pdf

MRI has been increasingly used for detailed visualization of the fetus in utero as well as pregnancy structures. Yet, the familiarity of radiologists and clinicians with fetal MRI is still limited. This article provides a practical approach to fetal MR imaging. Fetal MRI is an interactive scanning of the moving fetus owed to the use of fast sequences. Single-shot fast spin-echo (SSFSE) T2-weighted imaging is a standard sequence. T1-weighted sequences are primarily used to demonstrate fat, calcification and hemorrhage. Balanced steady-state freeprecession (SSFP), are beneficial in demonstrating fetal structures as the heart and vessels. Diffusion weighted imaging (DWI), MR spectroscopy (MRS), and diffusion tensor imaging (DTI) have potential applications in fetal imaging. Knowing the developing fetal MR anatomy is essential to detect abnormalities. MR evaluation of the developing fetal brain should include recognition of the multilayered-appearance of the cerebral parenchyma, knowledge of the timing of sulci appearance, myelination and changes in ventricular size. With advanced gestation, fetal organs as lungs and kidneys show significant changes in volume and T2-signal. Through a systematic approach, the normal anatomy of the developing fetus is shown to contrast with a wide spectrum of fetal disorders. The abnormalities displayed are graded in severity from simple common lesions to more complex rare cases. Complete fetal MRI is fulfilled by careful evaluation of the placenta, umbilical cord and amniotic cavity. Accurate interpretation of fetal MRI can provide valuable information that helps prenatal counseling, facilitate management decisions, guide therapy, and support research studies.

El-Bassyouni, H. T., G. H. Abdel Salam, S. N. Saleem, H. F. Kayed, M. M. Eid, M. Shihab, M. E. Zaki, and Z. MS, "Holoprosencephaly spectrum among Egyptian Patients: clinical and cytogenetic study", Genetic Counseling , vol. 25, issue 4, pp. 369-381, 2014.
Shokry, M., and S. Saleem, "IC Conferences", Middle East Fertility Society Journal, vol. 5, no. 3, pp. 231–235, 2000. Abstract
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Shokry, M., and S. Saleem, "IC Conferences", Middle East Fertility Society Journal, vol. 5, no. 3, pp. 231–235, 2000. Abstract
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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
Nabhan, M. M., S. Brenzinger, J. Carlsson, S. N. Saleem, E. A. Otto, and F. Hildebrandt, "Intrafamilial Variability and Clinical Heterogeneity in Two Siblings with NPHP4 loss of Function Mutations", Journal of Molecular Biomarkers & Diagnosis, vol. 6, issue 217, pp. 1-4, 2015.
Saleem, S. N., A. H. M. Said, and D. H. Lee, "Lesions of the Hypothalamus: MR Imaging Diagnostic Features1", Radiographics, vol. 27, no. 4: Radiological Society of North America, pp. 1087–1108, 2007. Abstract
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Saleem, S. N., A. H. M. Said, and D. H. Lee, "Lesions of the Hypothalamus: MR Imaging Diagnostic Features1", Radiographics, vol. 27, no. 4: Radiological Society of North America, pp. 1087–1108, 2007. Abstract
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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.

Escande-Beillard, N., A. Loh, S. N. Saleem, K. Kanata, Y. Hashimoto, U. Altunoglu, A. Metoska, J. Grandjean, F. M. Ng, O. Pomp, et al., "Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.", Neuron, vol. 107, issue 1, pp. 82-94.e6, 2020. Abstract

Patients lacking PYCR2, a mitochondrial enzyme that synthesizes proline, display postnatal degenerative microcephaly with hypomyelination. Here we report the crystal structure of the PYCR2 apo-enzyme and show that a novel germline p.Gly249Val mutation lies at the dimer interface and lowers its enzymatic activity. We find that knocking out Pycr2 in mice phenocopies the human disorder and depletes PYCR1 levels in neural lineages. In situ quantification of neurotransmitters in the brains of PYCR2 mutant mice and patients revealed a signature of encephalopathy driven by excessive cerebral glycine. Mechanistically, we demonstrate that loss of PYCR2 upregulates SHMT2, which is responsible for glycine synthesis. This hyperglycemia could be partially reversed by SHMT2 knockdown, which rescued the axonal beading and neurite lengths of cultured Pycr2 knockout neurons. Our findings identify the glycine metabolic pathway as a possible intervention point to alleviate the neurological symptoms of PYCR2-mutant patients.

Behairy, N. H., S. Talaat, S. N. Saleem, and M. A. El-Raouf, "Magnetic resonance imaging in fetal anomalies: What does it add to 3D and 4D US?", European journal of radiology, vol. 74, no. 1: Elsevier, pp. 250–255, 2010. Abstract
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Behairy, N. H., S. Talaat, S. N. Saleem, and M. A. El-Raouf, "Magnetic resonance imaging in fetal anomalies: What does it add to 3D and 4D US?", European journal of radiology, vol. 74, no. 1: Elsevier, pp. 250–255, 2010. Abstract
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Saleem, S. N., and Y. Y. Sabri, "Measuring Competence of Radiology Education Programs and Residents: The Egyptian Experience", Radiology Education: Springer Berlin Heidelberg, pp. 129–141, 2012. Abstract
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Abdel-Salam, G. M. H., M. S. Zaki, S. N. Saleem, and K. R. Gaber, "Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome", American Journal of Medical Genetics Part A, vol. 146, no. 22: Wiley Online Library, pp. 2929–2936, 2008. Abstract
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Zaki, M. S., A. Abdel-Aleem, G. Abdel-Salam, S. E. Marsh, J. L. Silhavy, A. J. Barkovich, M. E. Ross, S. N. Saleem, W. B. Dobyns, and J. G. Gleeson, "The molar tooth sign A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families", Neurology, vol. 70, no. 7: Lippincott Williams & Wilkins, pp. 556–565, 2008. Abstract

Joubert syndrome and related cerebellar disorders (JSRD) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. The pathognomonic finding in JSRD is the unique molar tooth sign (MTS) on brain imaging. There is a tremendously broad spectrum of signs and symptoms mainly including kidney, retina, and liver disease, along with polydactyly and facial dysmorphisms. Here we propose a new diagnostic classification within JSRD that includes four major subtypes. To test this classification, we performed a systematic recruitment and genetic evaluation from a single referral center in Egypt. Thirteen families were identified, four showed evidence of linkage to one of the four known genetic loci, three showed novel AHI1 mutations, and nine were excluded from known loci. Each family could be classified into one of the four subtypes. This classification may thus be useful in the evaluation of patients with JSRD.

GLOSSARY: BUN = blood urinary nitrogen; COACH = cerebellar vermis hypo/aplasia-oligophrenia-ataxia-ocular coloboma-hepatic fibrosis; CORS = cerebello-oculo-renal syndrome; CVH = cerebellar vermis hypoplasia; DAS = Dekaban-Arima syndrome; DWM = Dandy-Walker malformation; JSRD = Joubert syndrome and related cerebellar disorders; LCA = Leber congenital amaurosis; lod = logarithm of odds score; MKS = Meckel-Gruber syndrome; MTS = molar tooth sign; NPH = nephronophthisis; NRC = National Research Center; OFD-VI = oro-facio-digital syndrome type VI; PCH = pontocerebellar hypoplasia; RHO = rhombencephalosynapsis; SLS = Senior-Loken syndrome.

Saleem, S. N., "MR Imaging Diagnosis of Uterovaginal Anomalies: Current State of the Art1", Radiographics, vol. 23, no. 5: Radiological Society of North America, pp. e13–e13, 2003. Abstract
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Saleem, S. N., "MR Imaging Diagnosis of Uterovaginal Anomalies: Current State of the Art1", Radiographics, vol. 23, no. 5: Radiological Society of North America, pp. e13–e13, 2003. Abstract
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Saleem, S. N., "MRI features of Neuro-Behcet disease", Neurographics, vol. 4, pp. 1–36, 2005. Abstract
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Hawass, Z., and S. N. Saleem, "Mummified Daughters of King Tutankhamun: Archeologic and CT Studies", American Journal of Roentgenology, vol. 197, no. 5: Am Roentgen Ray Soc, pp. W829–W836, 2011. Abstract
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Zaki, M. S., G. M. H. Salam, S. N. Saleem, W. B. Dobyns, M. Y. Issa, S. Sattar, and J. G. Gleeson, "New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect", American Journal of Medical Genetics Part A: Wiley Online Library, 2011. Abstract
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