A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa).

A perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm composed of perivascular epithelioid cells with distinctive histologic, immunohistochemical, and genetic features. PEComas arising from various anatomical sites have been reported, but gastrointestinal PEComas are extremely rare entities. Here, we discuss the clinical and pathological features of a gastrointestinal PEComa with a transcription factor E3 (TFE3) translocation in a 17-year old adolescent male with a clinical presentation of abdominal pain and gastrointestinal bleeding.

An Aggressive Presentation of Mantle Cell Lymphoma With Unique Molecular Features.

Mantle cell lymphoma (MCL) is an aggressive non-Hodgkin lymphoma (NHL) with a dismal prognosis. The pathogenesis of MCL is complex and involves molecular alterations in various genes and pathways including the regulatory elements of the cell cycle machinery and senescence, DNA damage response pathways, and cell survival signals. Currently, Mantle Cell Lymphoma International Prognostic Index (MIPI) score and proliferative gene markers.

Biomarkers and novel therapeutic approaches for diffuse large B-cell lymphoma in the era of precision medicine.

Despite the great efforts for better treatment options for diffuse large B-cell lymphoma (DLBCL) (most common form of non-Hodgkin lymphoma, NHL) to treat and prevent relapse, it continues to be a challenge. Here, we present an overview of DLBCL and address the diagnostic assays and molecular techniques used in its diagnosis, role of biomarkers in detection, treatment of early and advanced stage DLBCL, and novel drug regimens. We discuss the significant biomarkers that have emerged as essential tools for stratifying patients according to risk factors and for providing insights into the use of more targeted and individualized therapeutics.

Fungal Volatile Organic Compounds: More Than Just a Funky Smell?

Many volatile organic compounds (VOCs) associated with industry cause adverse health effects, but less is known about the physiological effects of biologically produced volatiles. This review focuses on the VOCs emitted by fungi, which often have characteristic moldy or "mushroomy" odors. One of the most common fungal VOCs, 1-octen-3-ol, is a semiochemical for many arthropod species and also serves as a developmental hormone for several fungal groups.

Malignant transformation of inflammatory myofibroblastic tumor of urinary bladder: A rare case scenario.

Inflammatory myofibroblastic tumor (IMT) previously known as inflammatory pseudotumor, plasma cell granuloma, pseudosarcoma, myxoid hamartoma or inflammatory myofibrohistiocytic proliferation is recently recognized by World Health Organization (WHO) as "IMT" and is considered as a rare benign tumor of soft tissues occurring commonly in lung, liver and mesentry and omentum. IMT is mainly identified as a lesion of children and young population. In this report, we describe a rare case of IMT occurring in a 93-year-old female in urinary bladder with initial benign presentation but demonstrating rapid malignant transformation as confirmed with morphology and immunohistochemical (IHC) stains.

Secondary Plasma Cell Leukemia in a Recurrent Multiple Myeloma: Rare Case Scenario.

Plasma cell leukemia (PCL) is an aggressive hematological condition characterized by the presence of plasma cells in the peripheral smear. It presents as de novo or may arise from multiple myeloma (MM), and hence is diagnosed as primary or secondary PCL, respectively. We report a case of 79-year-old patient diagnosed with MM two years prior to the admission to our institution with prior treatment with bortezomib, lenalidomide and dexamethasone (VRD) and daratumumab, pomalidomide and dexamethasone.

Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the Gene.

The occurrence of monochorionic diamniotic twins with sex discordance is a very rare phenomenon. We present a case of spontaneously conceived gender-discordant monochorionic diamniotic twins born to a 23-year-old female, both twins demonstrating similar blood karyotype 45,X/46,X, idic(Y) and a novel 99 kb mutation at 3p24.3 involving exons 15-16 of transcript NM_001134381.

Metastatic Pulmonary Calcification with Coexisting Non-specific Interstitial Pneumonia: A Rare Case Report and Literature Review.

Patients with underlying chronic kidney disease (CKD) often have elevated serum calcium and parathyroid hormones due to compromised kidney function. We present a case of a 63-year-old female non-smoker with a surgical history of three renal transplants (at age 47, 51, and 58) along with thyroidectomy and parathyroidectomy, who came to the emergency department with complaints of a persistent dry cough and shortness of breath for the last two months. The patient had been on immunosuppressive drugs-tacrolimus, prednisolone, and mycophenolic acid-since her first renal transplant as well as on cinacalcet after parathyroidectomy (at age 54).

Heart Failure: Diagnosis, Management and Utilization.

Despite the advancement in medicine, management of heart failure (HF), which usually presents as a disease syndrome, has been a challenge to healthcare providers. This is reflected by the relatively higher rate of readmissions along with increased mortality and morbidity associated with HF. In this review article, we first provide a general overview of types of HF pathogenesis and diagnostic features of HF including the crucial role of exercise in determining the severity of heart failure, the efficacy of therapeutic strategies and the morbidity/mortality of HF.

Mantle cell lymphoma in the era of precision medicine-diagnosis, biomarkers and therapeutic agents.

Despite advances in the development of clinical agents for treating Mantle Cell Lymphoma (MCL), treatment of MCL remains a challenge due to complexity and frequent relapse associated with MCL. The incorporation of conventional and novel diagnostic approaches such as genomic sequencing have helped improve understanding of the pathogenesis of MCL, and have led to development of specific agents targeting signaling pathways that have recently been shown to be involved in MCL. In this review, we first provide a general overview of MCL and then discuss about the role of biomarkers in the pathogenesis, diagnosis, prognosis, and treatment for MCL.

Are Some Fungal Volatile Organic Compounds (VOCs) Mycotoxins?

Volatile organic compounds (VOCs) are carbon-compounds that easily evaporate at room temperature. Toxins are biologically produced poisons; mycotoxins are those toxins produced by microscopic fungi. All fungi emit blends of VOCs; the qualitative and quantitative composition of these volatile blends varies with the species of fungus and the environmental situation in which the fungus is grown.

A common fungal volatile organic compound induces a nitric oxide mediated inflammatory response in Drosophila melanogaster.

Using a Drosophila model, we previously demonstrated truncated life span and neurotoxicity with exposure to 1-octen-3-ol, the volatile organic compound (VOC) responsible for much of the musty odor found in mold-contaminated indoor spaces. In this report, using biochemical and immunological assays, we show that exposure to 0.5 ppm 1-octen-3-ol induces a nitric oxide (NO) mediated inflammatory response in hemocytes, Drosophila innate immune cells.

Volatile organic compounds from fungi isolated after hurricane katrina induce developmental defects and apoptosis in a Drosophila melanogaster model.

In previous work, our laboratory developed a Drosophila model for studying the adverse effects of fungal volatile organic compounds (VOCs) emitted by growing cultures of molds. In this report, we have extended these studies and compared the toxic effects of fungal VOCs emitted from living cultures of four molds isolated after Hurricane Katrina from a flooded home in New Orleans. Strains of Aspergillus, Mucor, Penicillium, and Trichoderma were grown with wild-type larvae and the toxic effects of volatile products on the developmental stages of Drosophila larvae were evaluated.

Mesenchymal stem cell therapy in lung disorders: pathogenesis of lung diseases and mechanism of action of mesenchymal stem cell.

Lung disorders such as asthma, acute respiratory distress syndrome (ARDS), chronic obstructive lung disease (COPD), and interstitial lung disease (ILD) show a few common threads of pathogenic mechanisms: inflammation, aberrant immune activity, infection, and fibrosis. Currently no modes of effective treatment are available for ILD or emphysema. Being anti-inflammatory, immunomodulatory, and regenerative in nature, the administration of mesenchymal stem cells (MSCs) has shown the capacity to control immune dysfunction and inflammation in the lung.

Signaling pathways involved in 1-octen-3-ol-mediated neurotoxicity in Drosophila melanogaster: implication in Parkinson’s disease.

Previously, we have pioneered Drosophila melanogaster as a reductionist model to show that 1-octen-3-ol, a musty-smelling volatile compound emitted by fungi and other organisms, causes loss of dopaminergic neurons and Parkinson’s disease-like symptoms in flies. Using our in vivo Drosophila system, the modulatory roles of important signaling pathways—JNK, Akt and the caspase-3-dependent apoptotic pathway were investigated in the context of 1-octen-3-ol-induced dopamine neurotoxicity. When heterozygous flies carrying mutant alleles for these proteins were exposed to 0.

Drosophila melanogaster as a model to characterize fungal volatile organic compounds.

Fungi are implicated in poor indoor air quality and may pose a potential risk factor for building/mold related illnesses. Fungi emit numerous volatile organic compounds (VOCs) as alcohols, esters, ethers, ketones, aldehydes, terpenoids, thiols, and their derivatives. The toxicity profile of these VOCs has never been explored in a model organism, which could enable the performance of high throughput toxicological assays and lead to a better understanding of the mechanism of toxicity.

The Protective Effect of Minocycline in a Paraquat-Induced Parkinson's Disease Model in Drosophila is Modified in Altered Genetic Backgrounds.

Epidemiological studies link the herbicide paraquat to increased incidence of Parkinson's disease (PD). We previously reported that Drosophila exposed to paraquat recapitulate PD symptoms, including region-specific degeneration of dopaminergic neurons. Minocycline, a tetracycline derivative, exerts ameliorative effects in neurodegenerative disease models, including Drosophila.

A model to evaluate the cytotoxicity of the fungal volatile organic compound 1-octen-3-ol in human embryonic stem cells.

Microbial growth in damp indoor environments has been correlated with risks to human health. This study was aimed to determine the cytotoxicity of 1-octen-3-ol ("mushroom alcohol"), a major fungal volatile organic compound (VOC) associated with mushroom and mold odors. Using an airborne exposure technique, human embryonic stem cells were exposed for 1 h to different concentrations (0-1,000 ppm) of racemic 1-octen-3-ol and its enantiomers, (R)-(-)-1-octen-3-ol and (S)-(+)-1-octen-3-ol.

Neurotoxicity of fungal volatile organic compounds in Drosophila melanogaster.

Many volatile organic compounds (VOCs) are found in indoor environment as products of microbial metabolism. In damp indoor environments, fungi are associated with poor air quality. Some epidemiological studies have suggested that microbial VOCs have a negative impact on human health.