Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency due to a Variant in Gene.

We report a 4.5-year-old girl with recurrent episodes of bilateral lower limb weakness following periods of upper respiratory tract infection since the age of 1.5 years.

Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.

Background: Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with organomegaly, malabsorption, and adrenal calcifications. The presentations can resemble hemophagocytic lymphohistiocytosis, the life threatening hyperinflammatory disorder.

Alteration of Plasma Amino Acid Concentrations in Iranian Children with COVID-19.

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.

Scrotal wall leiomyosarcoma: a case report and review of the literature.

Background: Up to 30% of all scrotal masses are sarcomas. Leiomyosarcoma of the scrotal wall is rare, and its clinical significance and prognosis have not been well defined, since the most reported cases have little or no follow-up.

Case Presentation: We report a 45-year-old Caucasian man who was admitted with a firm, nontender, mobile scrotal wall mass from 15 months ago.

Pre-analytical Practices in the Molecular Diagnostic Tests, A Concise Review.

Molecular assays for detection of nucleic acids in biologic specimens are valuable diagnostic tools supporting clinical diagnoses and therapeutic decisions. Pre-analytical errors, which occur before or during processing of nucleic acid extraction, contribute a significant role in common errors that take place in molecular laboratories. Certain practices in specimen collection, transportation, and storage can affect the integrity of nucleic acids before analysis.

Juvenile Polyps with Osseous Metaplasia: Report of Two Pediatric Cases and Review of the Literature.

Background: Osseous metaplasia is considered as a response to insults such as chronic inflammation or mucin extravasation in colorectal polyps.

Case Report: we report two cases of osseous metaplasia in juvenile (retention) polyps as incidental histopathological findings in a case of rectal juvenile polyposis and a patient with solitary rectal juvenile polyp.

Conclusion: Osseous metaplasia can occur in colorectal juvenile polyps and is considered a probable response to mucin extravasation and/or chronic inflammation.

A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18.

Monosomy 18p syndrome is one of the prototypical examples of autosomal terminal deletions. This deletion can be the consequence of de novo deletions, malsegregation of a balanced parental translocation, cryptic subtelomeric deletions or ring chromosome 18. The present case is a rare cytogenetic variant of monosomy 18 as a consequence of whole-arm translocation between chromosomes 13 and 18 which has been reported only three times previously.

FLT3 Gene Mutation Profile and Prognosis in Adult Acute Myeloid Leukemia.

Background: Internal tandem duplication (ITD) of FMS-related tyrosine kinase 3 (FLT3) gene, which occurs in exons 14 and 15, is one of the most prevalent somatic mutations in adult acute myeloid leukemia (AML) and has biological, prognostic, and therapeutic implications. The prognostic importance of codon 835 tyrosine kinase domain (TKD) mutation (exon 20), which occurs relatively frequently in adult AML, is often debated. We aimed to study the FLT3 gene mutation profile and prognosis in 139 adult Iranian patients with newly diagnosed AML.

Apocrine mixed tumor of the eyelid: a case report.

Background: Apocrine mixed tumor is usually found in parotid glands. Its cutaneous counterpart is rare and its occurrence in the eyelids is even rarer.

Case Presentation: This study reports an apocrine mixed tumor of the upper left eyelid in a 68 year-old lady with a history of breast cancer.

NPM1 Mutation Detection in Acute Myeloid Leukemia: A Method Comparison Study.

Background: Mutations in the nucleophosmin (NPM1) gene have been used as molecular biomarkers for prognostication of patients with adult acute myeloid leukemia (AML).

Methods: We designed a rapid and sensitive method using the allele-specific-refractory mutation system-polymerase chain reaction (ARMS-PCR) to detect the most common mutations of NPM1 gene, which are mostly four base pair insertions and compared its efficacy with direct sequencing and capillary electrophoresis which served as the gold standards.

Results: The incidence of mutation was 22% (33% of patients with normal karyotypes had mutation compared with 16% of patients with abnormal karyotypes) based on the results obtained with capillary electrophoresis analysis and direct sequencing.

Alteration of serum bilirubin level in schizophrenia.

Abstract Objective. Alteration of serum bilirubin level in acute episodes of psychosis in patients with schizophrenia has been reported but the pattern of this alteration is controversial. Methods.