Familial lecithin-cholesterol acyltransferase deficiency.

Familial lecithin-cholesterol acyltransferase deficiency is an uncommon autosomal recessive disorder from a heritable defect in esterification of plasma cholesterol. In 1968, the disease was described by Gjone and Norum in Norway. Our case was a 38-year-old woman. Her disease was manifested by presence of lower extremities edema, proteinuria, corneal opacities, increased plasma cholesterol, and hemolytic anemia. Suspicion of the disease was based on renal biopsy, which revealed mesangial expansion and capillary wall widening with clusters of foamy cells in the mesangium. Immunofluorescence study was nonspecific, but specific findings of electron microscopy showed deposition of lipid in the glomerular basement membrane and mesangium. This is the first report of lecithin-cholesterol acyltransferase deficiency in Iran.The diagnosis was confirmed by a low high-density lipoprotein cholesterol concentration, decreased activity of lecithin-cholesterol acyltransferase in plasma, and positive familial history of the disease.

The Core Needle and Surgical Biopsy Concordance to Detect Estrogen, Progesterone, and Her-2 Receptors in Breast Cancer: A Comparative Study.

BACKGROUND &OBJECTIVES: Evaluation of estrogen receptor (ER), progesterone receptor (PR), and (human epidermal growth factor receptor-2) Her-2 on core needle biopsies (CNBs) is increasingly in use to diagnosis early breast cancer, but its concordance with surgical excision (SE) is not well documented. METHODS: The study included 100 formalin fixed, paraffin-embedded specimens of invasive breast carcinoma archived in Pathology Department of Cancer Institute, Tehran, Iran, from 2011 to 2014. Immunohistochemistry was applied to detect ER, PR, and Her-2. RESULTS: The current study findings indicated a significant correlation of 90% between CNB and SE specimens for ER expression. The correlation between CNB and SE specimens was estimated as 81% and 97.3% for PR and Her-2, respectively. DISCUSSION: CNB can be performed confidently to determine ER and Her-2. For PR, results obtained from CNB should be considered.

Differentiating and Categorizing of Liposarcoma and Synovial Sarcoma Neoplasms by Fluorescence in Situ Hybridization.

BACKGROUND & OBJECTIVE: Soft tissue sarcomas (STS) constitute an uncommon and heterogeneous group of tumors of mesenchymal origin and various cytogenetic abnormalities ranging from distinct genomic rearrangements, such as chromosomal translocations and amplifications, to more intricate rearrangements involving multiple chromosomes. Fluorescence in situ hybridization (FISH) can be used to identify these chromosomal translocations and amplifications, and sub classify STS precisely. The current study aimed at investigating the usefulness of FISH, as a diagnostic ancillary aid, to detect cytogenetic abnormalities such as MDM2 (murine double minute 2) amplification and CHOP(C/EBP homologous protein) rearrangement in liposarcoma, as well as SYT (synaptotagmin) rearrangement in synovial sarcoma. METHODS: The FISH technique was used to analyze 17 specimens of liposarcoma for MDM2 amplification and CHOP rearrangement, and 10 specimens of synovial sarcoma for SYT rearrangement. The subtypes of liposarcoma and synovial sarcomas were reclassified according to the FISH results and compared with those of the respective histological findings. RESULTS: According to the FISH results in 17 liposarcoma cases, well-differentiated liposarcoma(WDLPS), dedifferentiated liposarcoma (DDLPS), and myxoidliposarcoma (MLPS)subtypes were 41%, 53%, and 6%, respectively. In different subtypes of liposarcoma, a total of 30% mismatches were observed between pathologic and cytogenetic results. According to the histological findings from FISH analysis, SYT rearrangement was found only in three out of 10 (30%) synovial sarcomas. CONCLUSION: The detection of cytogenetic abnormalities in patients with liposarcoma and synovial sarcoma by FISH technique provides an important objective tool to confirm sarcoma diagnosis and sub classification of specific sarcoma subtypes in such patients.

Detection and Typing of Human Papilloma Viruses by Nested Multiplex Polymerase Chain Reaction Assay in Cervical Cancer.

BACKGROUND: Cervical cancer is the leading cause of death from cancer in under-developed countries. Human papilloma virus (HPV) 16 and 18 are the most prevalent types associated with carcinogenesis in the cervix. Conventional Polymerase Chain Reaction (PCR), type-specific and consensus primer-based PCR followed by sequencing, Restriction Fragment Length Polymorphism (RFLP) or hybridization by specific probes are common methods for HPV detection and typing. In addition, some researchers have developed a multiplex PCR for simultaneous detection and typing of different HPVs. OBJECTIVES: The aim of the present study was to investigate the prevalence of HPV infection and its types in cervical Squamous Cell Carcinoma (SCC) using the Nested Multiplex PCR (NMPCR) assay. PATIENTS AND METHODS: Sixty-six samples with histologically confirmed SCC were evaluated. Total DNA was isolated by phenol-chloroform extraction and ethanol precipitation. Nested multiplex PCR was performed with first-round PCR by GP-E6/E7 consensus primers for amplification of the genomic DNA of all known mucosal HPV genotypes and second-round PCR by type-specific multiplex PCR primer cocktails. RESULTS: Human papilloma virus infection was detected in 78.8% of samples, with the highest prevalence of HPV 16 (60.6%) while concurrent infections with two types was detected in 10.6%. CONCLUSIONS: The NMPCR assay is more convenient and easy for analysis of results, which is important for fast diagnosis and patient management, in a type-specific manner.

Intramedullary spinal cord metastasis from endometrioid adenocarcinoma.

Intramedullary spinal cord metastases are rare .The majority of these metastases reportedly spread from lung cancer in the cervical region; however, they have been seen to arise from a variety of other primary sources. Here, we report what is, to the best of our knowledge, the first known case of an intramedullary spinal cord metastatic lesion in the conus region arising from primary endometrioid adenocarcinoma.

Atomic Absorption Spectrometry in Wilson's Disease and Its Comparison with Other Laboratory Tests and Paraclinical Findings.

OBJECTIVE: Wilson's disease (WD) is an autosomal recessive disease with genetic abnormality on chromosome 13 causing defect in copper metabolism and increased copper concentration in liver, central nervous system and other organs, which causes different clinical manifestations. The aim of this study was to determine the sensitivity of different clinical and paraclinical tests for diagnosis of Wilson's disease. METHODS: Paraffin blocks of liver biopsy from 41 children suspicious of WD were collected. Hepatic copper concentrations were examined with atomic absorption spectrophotometry (Australian GBC, model: PAL 3000). Fifteen specimens had hepatic copper concentration (dry weight) more than 250µg/g. Clinical and laboratory data and histologic slides of liver biopsies of these 15 children were reviewed retrospectively. Liver tissue was examined for staging and grading of hepatic involvement and also stained with rubeonic acid method for copper. FINDINGS: Patients were 5-15 years old (mean age=9.3 years, standard deviation=2.6) with slight male predominance (9/15=60%). Five (33%) patients were 10 years old. Three (20%) of them were referred for icterus, 8 (54%) because of positive family history, 2 (13%) due to abdominal pain and 2 (13%) because of hepatosplenomegaly and ascites. Serum AST and ALT levels were elevated at the time of presentation in all patients. In liver biopsy, histological grade and stage was 0-8 and 0-6 respectively, 2 (13%) had cirrhosis, 1 (7%) had normal biopsy and 12 (80%) showed chronic hepatitis. Hepatic copper concentrations were between 250 and 1595 µg/g dry weight. The sensitivity of various tests were 85% for serum copper, 83% for serum ceruloplasmin, 53% for urinary copper excretion, 44% for presence of KF ring and 40% for rubeonic acid staining on liver biopsies. CONCLUSION: None of the tests stated in the article were highly sensitive for diagnosis of WD, so we suggest that diagnosis should be based on combination of family history, physical examination and different tests.

The role of electron microscopy for the diagnosis of childhood glomerular diseases.

OBJECTIVE: Optimum diagnosis of glomerulopathies requires light microscopy, immunofluorescence and electron microcopy. In fact electron microscopy has a confirmatory role in glomerular diseases. It provides more information for patient management and can rule out other diseases. The goal of the present study is analysis the necessity of electron microscopy for the diagnosis of childhood glomerulopathies. METHODS: 134 cases of renal biopsy with some clinical data retrospectively were reviewed. The contribution of electron microscopy to the final diagnosis was graded as necessary - diagnosis could not be reached without it, supportive - it increased the level of confidence in the final diagnosis and noncontributory - the diagnosis don't need electron microscopy for confirmation. FINDINGS: The contribution of electron microscopy to the final diagnosis was necessary in 51 cases (38%), supportive in 40 cases (≅ 30%) and noncontributory in 43 cases (32%). CONCLUSION: In conclusion the results showed in about 68% of childhood glomerulopathies the ultrastructural study was necessary or supportive, so electron microscopy still remains an important tool in diagnosis of childhood glomerulopathies.