Moeinadin Safavi

CNS tumor with BCOR internal tandem duplication is a recently proposed malignant tumor. The patient was an 18-month-old boy with torticollis and vomiting due to cerebellar hemispheric mass with extension to cerebellopontine angle and foramen magnum. Histopathologic examination of the tumor showed a moderately cellular tumor with microcystic formation, myxoid change, and atypical rosettes resembling Homer Wright rosettes. Illumina TruSight RNA Pan-Cancer NGS of the tumor genome revealed BCOR gene exon 15 internal tandem duplications.

Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease

COVID-19 is an acute viral disease that has so far infected more than 200 million and killed more than four million worldwide. It affects the immune system and other organs. Here, we investigated the level of free plasma amino acids in COVID-19 patients and compared them with non-COVID-19 subjects. We also compared amino acids levels in critically ill patients admitted to the intensive care unit (ICU) with non-ICU patients and expired and recovered patients. Twenty-six COVID-19 patients and 32 non-COVID-19 subjects were included in the study. The mean of glutamic acid, serine, glycine, threonine, phenylalanine, leucine, lysine, alanine, arginine, aspartic acid, and ornithine was significantly higher in cases than controls. In addition, the mean of glutamine was significantly lower in patients than controls ( vs. , ). Low level of glutamine and isoleucine was seen in the majority of ICU and expired patients, respectively. Logistic regression analysis showed low level of isoleucine as a predictor variable in mortality ( , , and ). There was a positive and significant relationship between some amino acids levels, serum liver enzymes, and sodium concentrations. There was also a significant but negative correlation between histidine levels, ESR, and ferritin. Phenylalanine had a highly positive relationship with serum procalcitonin in patients ( , ). Our studies have shown the alteration of plasma amino acids concentration in COVID-19 patients. These changes are more evident in critically ill and at-risk patients.

Introduction: Ameloblastic fibro-odontoma (AFO) is a benign odontogentic tumor without an aggressive behavior, unlike the similar ameloblastic fibroma. Case Presentation: A 9-year-old boy, with tooth eruption failure, underwent enucleation and curettage of a well-defined variable radiolucent and radio-opaque right mandible lesion. There was odontogenic epithelium with peripheral palisading in a loose myxoid stroma as well as a disorganized component of dentin, enamel, and cementum, features of an AFO. Conclusion: AFO is an odontogenic mixed tumor of epithelium and mesenchyme.

Chediak-Higashi syndrome (CHS) is caused by dysfunction of lysosomal trafficking and presents with hypopigmentation, bleeding tendencies, neurological symptoms, and NK cell dysfunction. Hemophagocy...

Lipoblastoma is a rare benign tumor of primitive white fat in children, which usually involves the trunk and extremities. It rarely involves retroperitoneum, head, neck, and mediastinum. Herein, the authors introduce a rare presentation of lipoblastoma as a large intrathoracic mass.

It is about half a century since free-living amoebae were recognized as pathogenic organisms, but there is still much we should learn about these rare fatal human infectious agents. A recently introduced causative agent of granulomatous amoebic encephalitis, Balamuthia mandrillaris, has been reported in a limited number of countries around the world. A 3-year-old girl was referred to our tertiary hospital because of inability to establish a proper diagnosis. She had been experiencing neurologic complaints including ataxia, altered level of consciousness, dizziness, seizure, and left-sided hemiparesis. The patient's history, physical examination results, and laboratory investigations had led to a wide differential diagnosis. CT scan and magnetic resonance imaging analyses revealed multiple mass lesions. As a result, the patient underwent an intraoperative frozen section biopsy of the brain lesion. The frozen section study showed numerous cells with amoeba-like appearances in the background of mixed inflammatory cells. Medications for free-living amoebic meningoencephalitis were administered. PCR assay demonstrated B. mandrillaris as the pathogenic amoeba. Unfortunately, the patient died 14 days after her admission. To our knowledge, this is the first report of B. mandrillaris meningoencephalitis in the Middle East and the first time we have captured the organism during a frozen-section study.