Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Aims: Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity that is partly explained by the diversity of genetic variants contributing to disease. Accurate interpretation of these variants constitutes a major challenge for diagnosis and implementing precision medicine, especially in understudied populations. The aim is to define the genetic architecture of HCM in North African cohorts with high consanguinity using ancestry-matched cases and controls.

Simulated fine-needle aspiration diagnosis of follicular thyroid nodules by hyperspectral Raman microscopy and chemometric analysis.

Significance: Follicular thyroid carcinoma carries a substantially poor prognosis due to its unique biological behavior and less favorable outcomes. In particular, fine-needle aspiration (FNA) biopsies, which play a key role in screening thyroid nodules, cannot differentiate benign from malignant follicular neoplasm.

Aim: We report on the use of hyperspectral Raman microscopy in combination with chemometric analysis for identifying and classifying single cells obtained from clinical samples of human follicular thyroid neoplasms.

Primary Angiosarcoma of the Adrenal Gland: Report of 2 Cases and Review of the Literature.

Primary adrenal angiosarcoma is a rare, malignant, vascular neoplasm. These neoplasms typically arise in middle age (median age of 60 years) and are more common in males (65%) than in females. Although rare, these neoplasms are aggressive with a propensity for local recurrence and metastasis and a median survival of 18 months.

Raman-based cytopathology: an approach to improve diagnostic accuracy in medullary thyroid carcinoma.

Medullary thyroid carcinoma (MTC) is a rare form of thyroid malignancy that can be diagnostically challenging on fine needle aspiration (FNA) cytology. Ancillary tests such as elevated serum or immunohistochemical positive calcitonin have been helpful, yet they can occasionally provide false positive results. In search for an alternative method to improve diagnostic accuracy (DA), we applied hyperspectral Raman spectroscopy to characterize the biochemical composition of single cells from MTC and compared their spectral information to cells from other types of thyroid nodules.

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities toward advancements in precision medicine and novel diagnostic technologies. Current reference genomic databases are not representative of the global human population, making variant interpretation challenging, especially in underrepresented populations, such as the North African population. To address this, the Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project launched a study comprising 1000 individuals free of cardiovascular disease (CVD).

Hyperspectral Raman microscopy can accurately differentiate single cells of different human thyroid nodules.

We report on the use of line-scan hyperspectral Raman microscopy in combination with multivariate statistical analyses for identifying and classifying single cells isolated from clinical samples of human thyroid nodules based on their intrinsic Raman spectral signatures. A total of 248 hyperspectral Raman images of single cells from benign thyroid (n = 127) and classic variant of papillary carcinoma (n = 121) nodules were collected. Spectral differences attributed to phenylalanine, tryptophan, proteins, lipids, and nucleic acids were identified for benign and papillary carcinoma cells.

Ovarian teratoma associated Anti-N-methyl-D-aspartate receptor encephalitis: a difficult diagnosis with a favorable prognosis.

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently described auto-immune and paraneoplastic encephalitis with prominent neuropsychiatric manifestations affecting young adults with ovarian teratoma. The availability of a novel assay to measure these antibodies might suggest an etiology for this potentially life-threatening disease, which if early recognized can be treated promptly with surgery with chances of a good clinical outcome. Reported prognostic indicators for a good outcome depend on the presence of a tumor, prompt treatment and no admission to an intensive care unit.

Sclerosing mucoepidermoid carcinoma with eosinophilia: Cytologic characterization of a rare distinct entity in the thyroid.

Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is an extremely rare thyroid carcinoma with limited cytologic descriptions in the literature. Here, we present a 52-year-old woman with a 3.9 cm thyroid nodule.

Pleural fluid metastases of myoepithelial carcinoma: A case report and review of the literature.

Myoepithelial carcinoma (MECA) is one of the rarest salivary gland neoplasms, which may either arise de novo or develop within a preexisting pleomorphic adenoma or benign myoepithelioma. The tumor occurs mainly in the parotid gland followed by minor salivary glands and other body sites. As a result of their morphologic heterogeneity, they can be confused easily with many tumors.

Impact of Pulmonary Vein Cryoballoon Ablation on Bronchial Injury.

Introduction: There is a paucity of data on the mechanisms of cough and hemoptysis that sometimes ensue from cryoballoon ablation of pulmonary veins (Cryo-PV). This study specifically examined the impact of ultra-cold (≤-60 °C, 3 minutes), prolonged (>-55 °C, 6 minutes), and conventional (>-55 °C, 3 minutes) Cryo-PV on lung/bronchial injury.

Methods And Results: Four healthy adult swine underwent Cryo-PV.

Small cell mesothelioma: A rare entity and diagnostic pitfall mimicking small cell lung carcinoma on fine-needle aspiration.

Small cell mesothelioma (SCM) is an extremely rare variant of epithelioid mesothelioma that can be mistaken for other forms of small round blue cell tumors, particularly small cell lung carcinoma (SCLC). Here, we describe a fine-needle aspiration (FNA) from a pleural lesion in a 75-year-old man with a history of known asbestos exposure. The FNA revealed cohesive clusters of uniform small round blue cells with high nuclear-to-cytoplasmic ratio, finely powdery chromatin, small inconspicuous nucleoli, and scant amount of cytoplasm.

The expression of CD44v6 in colon: from normal to malignant.

CD44v6, an integral transmembrane protein belonging to a family of adhesion molecule receptors, plays an important role in tumor growth, progression and metastasis. The purpose of this study was to evaluate the expression of CD44v6 in normal, hyperplastic, adenomatous, and malignant colonic epithelium and to determine its correlation with tumor pathologic stage and lymph node metastasis. We examined the immunohistochemical expression of CD44v6 in normal colonic tissue (n = 25), hyperplastic polyps (n = 45), tubular adenomas (n = 57), tubulovillous adenomas (n = 25), villous adenomas (n = 9), adenocarcinomas stage I (n = 26), adenocarcinomas stage III (n = 26), and lymph node metastasis (n = 26).

Immunoisolation of pancreatic epithelial cells from endoscopic ultrasound-guided fine needle aspirates with magnetic beads for downstream molecular application.

Background: Evaluation of pancreatic mass is routinely performed by endoscopic ultrasound-guided fine needle aspiration (EUS-FNA). However, molecular analyses of the tumor cells on FNA samples are limited by the significant cellular heterogeneity. The goal of the current study is to evaluate a magnetic immunoconcentration technique in isolating pancreatic epithelial cells from needle aspirates, and to demonstrate that the isolated cells could be utilized for molecular analysis.

Diffuse pulmonary meningotheliomatosis: A diagnostically challenging entity on fine-needle aspiration cytology.

Diffuse pulmonary meningotheliomatosis (DPM) is an exceedingly rare entity consisting of multiple minute pulmonary meningothelial-like nodules profusely involving the lungs. To the best of our knowledge, we present the first cytologic description of this uncommon lesion from a 57-year-old nonsmoking woman. Computerized tomographic-guided fine-needle aspiration cytology from a left upper lobe nodule showed whorled/nested clusters of elongated cells with oval nuclei, clear pseudonuclear inclusions, nuclear grooves/indentations, smooth nuclear contours, fine granular chromatin, inconspicuous nucleoli, and abundant fibrillary cytoplasm with indistinct cell borders.

Comparison of PET imaging with 64Cu-liposomes and 18F-FDG in the 7,12-dimethylbenz[a]anthracene (DMBA)-induced hamster buccal pouch model of oral dysplasia and squamous cell carcinoma.

Purpose: Currently, 2-deoxy-2-[(18)F]fluoro-D-glucose ((18)F-FDG) is the gold standard radiotracer for staging of head and neck cancer; however, the low sensitivity of this tracer can impede detection of early lesions. (64)Cu-liposomes accumulate in various cancers and provide both a sensitive tracer and an indication of the biodistribution of nanotherapeutics. Here, the accumulation of (64)Cu-liposomes in early and established cancers is assessed and compared with (18)F-FDG in a head and neck cancer model.

Two smalls in one: Coincident small cell carcinoma and small lymphocytic lymphoma in a lymph node diagnosed by fine-needle aspiration biopsy.

Background: B-cell chronic lymphocytic leukemia / small lymphocytic lymphoma (CLL / SLL) is one of the most common lymphoproliferative disorders in western countries. Patients with SLL / CLL are at increased risk of site-specific secondary cancers. We present a unique case of a 71-year-old male, with a history of SLL / CLL, who presented with pulmonary symptoms and a mediastinal mass.

Adipose tissue dysregulation in patients with metabolic syndrome.

Context: The metabolic syndrome (MetS) is associated with increased risk of diabetes and cardiovascular disease (CVD). Numerous groups have shown increased circulating biomarkers of inflammation in MetS. However, there are scanty data on the cellular sources contributing to this low-grade inflammation.

Knockout of toll-like receptor-2 attenuates both the proinflammatory state of diabetes and incipient diabetic nephropathy.

Objective: Type 1 diabetes (T1DM) is a proinflammatory state and confers an increased risk for vascular complications. Toll-like receptors (TLR) could participate in diabetic vasculopathies. Whether TLR activation contributes to the proinflammatory state of T1DM and the pathogenesis of diabetic nephropathy remains unknown.

Expression of CD44s and CD44v6 in lung cancer and their correlation with prognostic factors.

Background: CD44, a transmembrane glycoprotein receptor, plays a major role in tumor progression and metastasis.

Objective: To evaluate the expression of CD44 standard (CD44s) and its variant 6 (CD44v6) in normal and neoplastic lung tissue and correlate it with prognostic factors in lung cancer.

Methods: The study included 52 non-small cell lung carcinomas (NSCLC) (21 squamous cell carcinomas and 31 adenocarcinomas), 15 small cell lung carcinomas (SCLC) and 8 carcinoid tumors.

Living with uncertainty: equivocal Pap test results and the evolution of ASC terminology.

Communication of equivocal findings and their significance has been a significant challenge related to Pap testing throughout its history. Terminology to report these findings has changed considerably to accommodate the changes in understanding of cervical neoplasia, and to accommodate new management strategies, tests, and technologies. This article reviews the evolution of terminology for equivocal Pap test findings from the original Papanicolaou classification to the current the Bethesda System 2001 atypical squamous cells terminology, the implication and use of these terms, and the changing landscape of cervical neoplasia screening, which prompted these terminology changes.

Role of CD44s and CD44v6 on human breast cancer cell adhesion, migration, and invasion.

The interaction between the transmembrane receptor CD44 on epithelial tumor cells and its ligand hyaluronan in the surrounding extracellular matrix is important in tumor progression and metastasis. CD44 is encoded by a single 20-exon gene and expressed in standard form (CD44s), as well as a myriad of CD44 variants (CD44v) generated by alternative splicing of the CD44 mRNA. Previously, we demonstrated that hyaluronan (HA) production is increased at tumor-stroma interface in invasive and metastatic human breast cancers when compared with benign or premalignant lesions.

The diagnostic utility of cell blocks prepared from residual SurePath Pap material for detection of human papilloma virus.

This study was undertaken to determine if tissue sections from cell block prepared from the residual cellular sediment of Pap test vials could be used for immunohistochemistry (IHC) or in situ hybridization (ISH) for the detection of human papilloma virus (HPV) and to determine if these stains could clarify the nature of atypical cases in certain cases. Cases included in this retrospective study are categorized into 3 groups. Group 1 included 12 positive and 10 negative cases that were used to optimize the IHC and ISH staining protocol for the detection of HPV.

Expression of CD44s, CD44v6, and hyaluronan across the spectrum of normal-hyperplasia-carcinoma in breast.

Background: The interaction between transmembrane receptors on epithelial tumor cells and the surrounding extracellular matrix molecules is important in tumor progression and metastasis. This interaction is best exemplified by the relationship of the receptor CD44 and the extracellular matrix component hyaluronan (HA). This study seeks to evaluate the expression and the correlation of CD44s, CD44v6, and HA in normal, hyperplastic, and malignant breast epithelium and stroma.