Molecular oncology focus - Is carcinogenesis a 'mitochondriopathy'?

Mitochondria are sub-cellular organelles that produce adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). As suggested over 70 years ago by Otto Warburg and recently confirmed with molecular techniques, alterations in respiratory activity and in mitochondrial DNA (mtDNA) appear to be common features of malignant cells. Somatic mtDNA mutations have been reported in many types of cancer cells, and some reports document the prevalence of inherited mitochondrial DNA polymorphisms in cancer patients. Nevertheless, a careful reanalysis of methodological criteria and methodology applied in those reports has shown that numerous papers can't be used as relevant sources of data for systematic review, meta-analysis, or finally for establishment of clinically applicable markers

Mitochondrial genotype in vulvar carcinoma - cuckoo in the nest

Vulvar squamous cell carcinoma (VSCC) is a rare female genital neoplasm. Although numerous molecular changes have been reported in VSCC, biomarkers of clinical relevance are still lacking. On the other hand, there is emerging evidence on the use of mtDNA as a diagnostic tool in oncology. In order to investigate mtDNA status in VSCC patients, haplogroup distribution analysis and D-loop sequencing were performed. The results were compared with available data for the general Polish population, cancer free-centenarians as well as patients with endometrial and head and neck cancer. The obtained data were also compared with the current status of mitochondrial databases. Significant differences in haplogroup distribution between VSCC cohort, general Polish population and cancer-free centenarians cohort were found. Moreover, a correlation between the VSCC patients haplogroup and HPV status was observed. Finally, a specific pattern of mtDNA polymorphisms was found in VSCC. Our results suggest that the mitochondrial genetic background may influence the risk of VSCC occurrence as well as susceptibility to HPV infection

Additions to the lichen biota of Berezovye Islands, Leningrad Region, Russia

66 species of lichens, 9 lichenicolous fungi and 4 non-lichenized saprobic fungi are reported as new to the Berezovye Islands (Leningrad Region, Russia). The updated lichen biota of the archipelago comprises 356 species. Caloplaca maritima, Lecanora compallens, Verrucaria boblensis and Xanthoriicola physciae are reported for the first time for Russia, Lecanora aitema – for European Russia, Lecanora semipallida and Lichenodiplis lecanorae – for North-Western European Russia. Absconditella sphagnorum, Chaenothecopsis vainioana, Lempholemma polyanthes and Opegrapha niveoatra are new to the Leningrad Region, Arthonia byssacea and Lecanora subrugosa – to the Western Leningrad Region.

Automatic Heart Rate Detection during Sleep Using Tracheal Audio Recordings from Wireless Acoustic Sensor

Background: Heart rate is an essential diagnostic parameter indicating a patient’s condition. The assessment of heart rate is also a crucial parameter in the diagnostics of various sleep disorders, including sleep apnoea, as well as sleep/wake pattern analysis. It is usually measured using an electrocardiograph (ECG)—a device monitoring the electrical activity of the heart using several electrodes attached to a patient’s upper body—or photoplethysmography (PPG). Methods: The following paper investigates an alternative method for heart rate detection and monitoring that operates on tracheal audio recordings. Datasets for this research were obtained from six participants along with ECG Holter (for validation), as well as from fifty participants undergoing a full night polysomnography testing, during which both heart rate measurements and audio recordings were acquired. Results: The presented method implements a digital filtering and peak detection algorithm applied to audio recordings obtained with a wireless sensor using a contact microphone attached in the suprasternal notch. The system was validated using ECG Holter data, achieving over 92% accuracy. Furthermore, the proposed algorithm was evaluated against whole-night polysomnography-derived HR using Bland-Altman’s plots and Pearson’s Correlation Coefficient, reaching the average of 0.82 (0.93 maximum) with 0 BPM error tolerance and 0.89 (0.97 maximum) at ±3 BPM. Conclusions: The results prove that the proposed system serves the purpose of a precise heart rate monitoring tool that can conveniently assess HR during sleep as a part of a home-based sleep disorder diagnostics process

Contributions to the knowledge of the lichen biota of Bolivia 5

Peer reviewe

Laryngeal embryonal rhabdomyosarcoma in an adult - A case presentation in the eyes of geneticists and clinicians

<p>1. Abstract</p> <p>Background</p> <p>Rhabdomyosarcoma is a solid tumor, resulting from dysregulation of the skeletal myogenesis program. For rhabdomyosarcomas (RMS) with a predilection for the head and neck, genitourinary tract, extremities, trunk, retroperitoneum, the larynx is still an unusual site. Till now only several cases of this laryngeal tumor have been described in world literature in the adult population. The entire spectrum of genetic factors underlying RMS development and progression is unclear until today. Multiple signaling pathways seem to be involved in ERMS development and progression.</p> <p>Case presentation</p> <p>In this paper we report an interesting RMS case in which the disease was located within the glottic region. We report an embryonal rhabdomyosarcoma of the larynx in 33 year-old man. After unsuccessful chemotherapy hemilaryngectomy was performed. In follow up CT no signs of recurrence were found. Recently patient is recurrence free for 62 months.</p> <p>Conclusions</p> <p>Considering the histological diagnosis and the highly aggressive nature of the lesion for optimal diagnosis positron electron tomography (PET) and computerized tomography (CT) of the neck and thorax should be performed. At this time surgical treatment with adjuvant radiotherapy seems to be the treatment of choice for this disease. Rhabdomyosarcoma of the larynx has a better prognosis than elsewhere in the body, probably because of its earlier recognition and accessibility to radical surgery.</p

Lichens from the Vadstena Monastery churchyard – the burial place of Eric Acharius

A list of 120 taxa observed at the Vadstena Monastery churchyard includes some rare species and a few lichenicolous fungi. Lecanora semipallida is reported from the province Östergötland [Ostrogothia] for the first time

Diagnosis and treatment of rhabdomyosarcomas

Rhabdomyosarcoma (RMS) is a soft tissue sarcoma. The primary tumor is most commonly localized in the head and neck, the urogenital system, or the limbs. Classification by the World Health Organization has distinguished four histopathological RMS subtypes: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Differential diagnosis of RMS includes melanoma, malignant neoplasm of peripheral nerve sheaths, liposarcoma, and PEComa. Among typical cytogenetic changes in RMS are chromosomal translocations t(2;13)(q35;q14) and t(1;13) (p36;q14). They lead to the formation of fusion genes that have a prognostic value. In the course of RMS, changes may also be present in signaling pathways, including RAS-PI3K, Wnt/b-catenin, receptor tyrosine kinase pathways, and myogenesis regulation. In 30% of patients at the time of diagnosis of RMS, distant metastases are present, most commonly to lungs, lymph nodes, bones, and bone marrow. Treatment of patients with RMS requires a multidisciplinary approach, and steadily perfected diagnostic techniques contribute to the individualization of therapeutic strategies. Optimal treatment of localized RMS is based on surgery combined with radiotherapy and chemotherapy. If distant metastases are present, the basic therapeutic method is multidrug chemotherapy, most frequently based on vincristine, dactinomycin, ifosfamide/cyclophosphamide, and etoposide. Despite intensive treatment, the 5-year survival index for RMS is not greater than 50%. There are still no unequivocal guidelines concerning the treatment in patients with local or distant recurrences