Somatic Types Research Articles

Mediastinal germ cell tumors

The mediastinum is among the most frequent anatomic region in which germ cell tumors (GCT) arise, second only to the gonads. Mediastinal GCT (mGCT) account for 16 % of all mediastinal neoplasms. Although the morphology and (according to all available data) the molecular genetics of mediastinal and gonadal GCT are identical, anumber of unique aspects exist. There is ahighly relevant bi-modal age distribution. In pre-pubertal children of both sexes, mGCT consist exclusively of teratomas and yolk sac tumors. The prognosis is generally favorable with modern treatment. In post-pubertal adults, virtually all patients with malignant mGCT are males; the prognosis is more guarded and depends (among other factors) on the histological GCT components and is similar to GCT in other organs. So-called somatic type malignancies (i. e. clonally related, non-germ cell neoplasias arising in aGCT) are much more frequent in mGCT than in other organs, and the association between mediastinal yolk sac tumors and hematological malignancies, such as myelodysplasias and leukemias, is unique to mediastinal tumors. The prognosis of GCT with somatic type malignancies is generally dismal.

Mesenchymal tumors of the mediastinum

Mesenchymal neoplasms of the thymus and mediastinum account for only 2 % of neoplasms of the mediastinum and are therefore very rare. With very few exceptions the histology, immunohistochemistry and (based on current knowledge) molecular biology of mediastinal soft tissue tumors are not different from their counterparts in other organs. Characteristic features are more concerned with clinical epidemiological and therapeutic aspects as well as the multitude of possible differential diagnoses. With the exception of organ-specific tumors, such as gastrointestinal stromal tumors (GIST), virtually all entities encountered in peripheral soft tissues can also arise in the mediastinum. Primary mediastinal soft tissue sarcomas (STS) must be distinguished from secondary radiation-induced STS after irradiation, e. g. for breast cancer and Hodgkin's lymphoma and from STS arising as somatic type malignancies in mediastinal germ cell tumors.

CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome)

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disease characterized by severe neurologic and somatic disease caused by deficiency of iduronate-2-sulfatase (IDS), an enzyme that catabolizes the glycosaminoglycans heparan and dermatan sulphate. Intravenous enzyme replacement therapy (ERT) currently constitutes the only approved therapeutic option for MPSII. However, the inability of recombinant IDS to efficiently cross the blood-brain barrier (BBB) limits ERT efficacy in treating neurological symptoms. Here, we report a gene therapy approach for MPSII through direct delivery of vectors to the CNS. Through a minimally invasive procedure, we administered adeno-associated virus vectors encoding IDS (AAV9-Ids) to the cerebrospinal fluid of MPSII mice with already established disease. Treated mice showed a significant increase in IDS activity throughout the encephalon, with full resolution of lysosomal storage lesions, reversal of lysosomal dysfunction, normalization of brain transcriptomic signature, and disappearance of neuroinflammation. Moreover, our vector also transduced the liver, providing a peripheral source of therapeutic protein that corrected storage pathology in visceral organs, with evidence of cross-correction of nontransduced organs by circulating enzyme. Importantly, AAV9-Ids-treated MPSII mice showed normalization of behavioral deficits and considerably prolonged survival. These results provide a strong proof of concept for the clinical translation of our approach for the treatment of Hunter syndrome patients with cognitive impairment.

Oral cenesthopathy.

Cenesthopathy is characterized by abnormal and strange bodily sensations and is classified as a ‘delusional disorder, somatic type’ or ‘somatoform disorder’ according to the DSM 5. The oral cavity is one of the frequent sites of cenesthopathy, thus the term ‘oral cenesthopathy.’ Patients with oral cenesthopathy complain of unusual sensations without corresponding abnormal findings in the oral area, such as excessive mucus secretion, a slimy sensation, or a feeling of coils or wires being present within the oral region. They usually visit multiple dentists rather than psychiatrists. Without a proper diagnosis, they repeatedly pursue unnecessary surgical procedures to remove their ‘foreign body’. This sometimes creates a dilemma between the dentists and patients. The nosography of oral cenesthopathy has been discussed in some case reports and reviews but is overlooked in mainstream medicine. This review focuses on the various aspects of oral cenesthopathy.The estimated prevalence of cenesthopathy was 0.2 to 1.9 % in a study done at a Japanese university psychiatry clinic and 27 % in a study done at a Japanese psychosomatic dentistry clinic. Oral cenesthopathy do not have clear disposition, while some studies reported that elderly women were most commonly affected. Its pathophysiology has not been fully elucidated. However, recent studies have suggested a right > left asymmetrical pattern of the cerebral blood flow of patients with oral cenesthopathy. Antidepressants, antipsychotic drugs, electroconvulsive therapy, and psychotherapy might be effective in some cases, though it is known to be intractable.To date, the epidemiology, pathophysiology, etiology, classification and treatment of oral cenesthopathy are unknown due to the few reports on the disorder, though there are a few case reports. To overcome this difficult medical condition, clinico-statistical and case–control studies done under rigorous criteria and with a large sample size are required.

Linker histone variant H1T targets rDNA repeats

ABSTRACTH1T is a linker histone H1 variant that is highly expressed at the primary spermatocyte stage through to the early spermatid stage of spermatogenesis. While the functions of the somatic types of H1 have been extensively investigated, the intracellular role of H1T is unclear. H1 variants specifically expressed in germ cells show low amino acid sequence homology to somatic H1s, which suggests that the functions or target loci of germ cell-specific H1T differ from those of somatic H1s. Here, we describe the target loci and function of H1T. H1T was expressed not only in the testis but also in tumor cell lines, mouse embryonic stem cells (mESCs), and some normal somatic cells. To elucidate the intracellular localization and target loci of H1T, fluorescent immunostaining and ChIP-seq were performed in tumor cells and mESCs. We found that H1T accumulated in nucleoli and predominantly targeted rDNA repeats, which differ from somatic H1 targets. Furthermore, by nuclease sensitivity assay and RT-qPCR, we showed that H1T repressed rDNA transcription by condensing chromatin structure. Imaging analysis indicated that H1T expression affected nucleolar formation. We concluded that H1T plays a role in rDNA transcription, by distinctively targeting rDNA repeats.

ASSESSMENT OF INTERRELATION OF INDEXES OF THE CONSTITUTION, CONTENT OF BODY COMPONENTS AND PHYSICAL READINESS OF SCHOOLCHILDREN IN THE AGE 13-14 YEARS

This article is devoted to the analysis of interrelation between constitution, content of body components and physical readiness of adolescents. The theoretical analysis showed that the somatic type significantly influences motor development of the person. Besides, it is an indicator of a reserve of an athletic ability in practice of physical education and sports training. The accounting of content of body components of the person is important for obtaining objective data about an individual type of the person. The bioelectric impedance analysis is the most operational and high-informative method of an assessment of content of body components. Schoolchildren of the 7th grades of secondary school (n=24) have taken part in the research. The assessment of somatic type of the adolescents was held by means of an index of Rorer. The analysis of content of body components it was carried out by means of a complex of hardware with the software «Diamant». Physical readiness of the adolescents was studied by means of motor tests. Also methods of mathematical statistics were used. Results of research showed that essential gender distinctions exist and female persons decrease in body weight. Our research hasn’t revealed significant interrelations between content of body components and physical readiness of the adolescents. Data on essential interrelation of an index of Rorer with indicators of content of body components of schoolchildren in the age 13-14 years were obtained.

Piwi-interacting RNAs in cancer: emerging functions and clinical utility.

PIWI-interacting RNAs (piRNAs) are emerging players in cancer genomics. Originally described in the germline, there are over 20,000 piRNA genes in the human genome. In contrast to microRNAs, piRNAs interact with PIWI proteins, another member of the Argonaute family, and function primarily in the nucleus. There, they are involved in the epigenetic silencing of transposable elements in addition to the transcriptional regulation of genes. It has recently been demonstrated that piRNAs are also expressed across a variety of human somatic tissue types in a tissue-specific manner. An increasing number of studies have shown that aberrant piRNA expression is a signature feature across multiple tumour types; however, their specific tumorigenic functions remain unclear. In this article, we discuss the emerging functional roles of piRNAs in a variety of cancers, and highlight their potential clinical utilities.

Isolation of Uncommon Pasteurella multocida Strains from Cattle in North Central Nigeria

The prevalence of P. multocida, an aetiologic agent of bovine haemorrhagic septicaemia was studied using a purposive sampling technique in north central Nigeria. A total of 18 positive isolates of P. multocida were obtained from 175 lungs, liver, and spleen samples examined, giving an isolation rate of 10.3%. Nineteen isolates were confirmed as P. multocida by Microbact GNB 24E supplied software version MicrobactTM 200 identification package V2.03 (WindowsTM) and by species specific PCR. By the software interpretations package the percentage probabilities of 12 isolates were above 75% and 7 others were below 75%. The study confirmed the presence of the African capsular strain E (511 bp) and a unique capsular F type. The P. multocida strains were somatically typed as: P. multocida E: 3, 4 and P. multocida E: 2, 5, but most were untypeable. Also of interest is capsular group F somatically untypeable strain being identified for the first time from calves in Nigeria. These strains have not previously been reported in Nigeria or within the West African sub-region. These could redefine the vaccine strategy as the current vaccine used in Nigeria contain P. multocida B: 3,4 and E: 2. However more work needs to be carried out in other parts of the country to gather more relevant information with regards to capsular and somatic types.

Stem Cell Biology and its Role in Regenerative Medicine: A Concept Shaping the Future of Medicine

Stem cells are special type of cells that have unique capacity to renew themselves and differentiate to give rise to specialized cell types for many tissues. Hence, they are the principal cells of all cell types. Stem cells can be embryonic, fetal, and adult or somatic types. Cells can be reprogrammed artificially through the introduction of endogenous transcription factors by using viruses like retrovirus to produce iPSCs (induced pluripotent stem cells). There are proteins that are important in the regulation of stem cell differentiation such as bone morphogenic protein -2 (BMP-2), leukocyte inhibitory factor and micro RNAs. Cutting edge research featuring stem cells will gear us to medical discovery of cell-based therapies of various diseases occurring in animals and human beings. Apart from applications of stem cells there is a widespread controversy over the use of embryonic stem cells. The controversy targets the techniques used to derive new embryonic stem cell lines which damage the blastocyst. However, reprogramming of adult cells into iPSCs holds great promise for regenerative medicine. Advancement in stem cell research is ever growing and now a day it is gaining a concern and this is a promising indication that adult and embryonic stem cells will be used in the future to treat cancer, paralysis, cardiac failure, stroke, diabetes and many other diseases. In this paper we reviewed the properties and classification of stem cells, regulatory factors of stem cell pluripotency and differentiation, reprograming and potential clinical applications of stem cells, as well as ethical issues in stem cell therapy.

Olfactory reference syndrome: A case report

Olfactory reference syndrome (ORS ) is a delusional disorder of somatic type of characterized by persistent wrong belief that the person has bad odor originating from his/her body . Patients with ORS feel responsible for themselves for the bad odor and shame. Patients often withdraw from the society, they restrict their social and occupational communication. In this report we present a case with a delusion related to bad odor of his body and secondary depressive symptoms who presented significant improvement with the combination of escitalopram and olanzapine.

Interconnection of students’ somatic type with somatic health

Purpose: to study interconnection of students’ somatic type with their somatic health. Material: in the research 106 students of 17-22 years’ age participated. Anthropometric indicators were determined. Results: we calculated indices, which characterize reserve potentials of cardio-respiratory system. Students with micro-somatic body constitution have low values of heart beats rate and high diastolic blood pressure. In macro-somatic students we observed confidently higher heart beats rate indicator. By this indicator the students have also restricted range of organism’s compensatory potentials. Macro-somatic students with high values of Robinson’s index can be related to group with reduced functional reserves of cardio-vascular system. Conclusions: it is recommended to consider that increase of body length and heart beats rate indicators negatively impact on students’ somatic health. It is recommended to distribute students, considering main anthropometric indicators.

Structural and Functional Neuroimaging Findings in Delusional Disorder: Diagnostic and Therapeutic Implications

Background: Although structural and functional abnormalities have been found in patients with schizophrenia, very few studies have investigated neuroimaging features in delusional disorder patients. We conducted a review of the literature to assess the evidence for specific neuroimaging changes in delusional disorder on brain structures and functions. Method: We reviewed the literature on structural and functional neuroimaging studies of delusional disorder between 1980 and April 2014. The search was conducted through MEDLINE, Pubmed and Web of Knowledge, using the following key words: delusional disorder, neuroimaging, brain imaging, magnetic resonance, MRI, computerized tomography, TC, single photon emission tomography, SPECT, functional magnetic resonance, fMRI, positron emission tomography, PET and spectroscopy. Results: According to our inclusion criteria, 15 studies were included in the review. 14 studies reported structural brain data, and 10 studies reported functional findings. Due to the heterogeneity of the neuroimaging techniques, a meta- analysis could not be conducted. The vast majority of structural neuroimaging studies found brain atrophy and white matter lesions in DD patients, particularly in the temporoparietal or frontal lobes. Functional neuroimaging studies pointed to the temporal and parietal lobes, as well as the basal ganglia, as potential brain areas implicated in the clinical manifestation of DD, particularly in those patients affected with the somatic type, and as potential neuroimaging markers of clinical response in these populations. Conclusion: Temporo-parietal, prefrontal, and basal ganglia dysfunction, as well as dysfunctions in other specific brain regions, may be implicated in the core symptoms of delusional patients. More complex functional brain network analyses and multivariate statistics would provide higher evidence in future research.

Olfactory Reference Syndrome Developed After Stressful Life Events and Response to Pharmacological Treatment: Report of Four Cases

Olfactory reference syndrome (ORS) is a disorder of thought content characterized by strong beliefs in transmitting an unpleasant body odor and disturbing other people. ORS had not been recognized in the DSM-IV as a separate diagnosis; rather, it used to be categorized under delusional disorder, somatic type (DDST). Considering recent changes in the DSM-5, the syndrome is currently listed under the section of other specified obsessive-compulsive and related disorder with the name Jikoshu-kyofu, thus still not described as a major distinct entity. We claim that a universally accepted set of diagnostic criteria is lacking, and there is a set of overlapping symptoms with various other disorders. In this paper, we discuss four patients presenting with ORS after a triggering stressful life event from the nosological and treatment perspective, focusing primarily on antipsychotic augmentation.

A 59-year-old patient with somatic type malignancy as a relapse of testicular tumor after 28 years

A 59-year-old patient presented in the outpatient clinic because of an increasing mass in his right buttock. He has a history of a testicular tumor 28 years ago, with increased tumor markers (Human Choriongonadotropin (β-HCG) value 4.9 and Alpha-1 Fetoprotein (AFP) 218 ng/ml).

Genome-Wide Mapping of Collier In Vivo Binding Sites Highlights Its Hierarchical Position in Different Transcription Regulatory Networks.

Collier, the single Drosophila COE (Collier/EBF/Olf-1) transcription factor, is required in several developmental processes, including head patterning and specification of muscle and neuron identity during embryogenesis. To identify direct Collier (Col) targets in different cell types, we used ChIP-seq to map Col binding sites throughout the genome, at mid-embryogenesis. In vivo Col binding peaks were associated to 415 potential direct target genes. Gene Ontology analysis revealed a strong enrichment in proteins with DNA binding and/or transcription-regulatory properties. Characterization of a selection of candidates, using transgenic CRM-reporter assays, identified direct Col targets in dorso-lateral somatic muscles and specific neuron types in the central nervous system. These data brought new evidence that Col direct control of the expression of the transcription regulators apterous and eyes-absent (eya) is critical to specifying neuronal identities. They also showed that cross-regulation between col and eya in muscle progenitor cells is required for specification of muscle identity, revealing a new parallel between the myogenic regulatory networks operating in Drosophila and vertebrates. Col regulation of eya, both in specific muscle and neuronal lineages, may illustrate one mechanism behind the evolutionary diversification of Col biological roles.

Соматотипологические особенности мальчиков подросткового возраста при синдроме вегетативной дисфункции симпатикотонического типа

The purpose of the research is to study the constitutional features of teenage boys with the syndrome of vegetative dysfunction of sympathetic tonic type. A somatometry of 100 adolescent boys (70 healthy and 30 boys with syndrome of vegetative dysfunction of sympathetic tonic type) according to V.V. Bunak’s method (1941) was carried out. Determination of somatic type and severity of fat, muscle and bone components of the body was conducted by the method of R. N. Dorokhov, V., Petrukhin (1989). As results of this study the fea-tures of somatic type distribution and severity of fat, muscle and bone components of the body in the boys with syndrome of vegetative dysfunction were revealed. In boys with syndrome of vegetative dysfunction the predo-minance macrosomic type (38,4%) was found, this corresponds to high values of length and weight. In healthy boys it was established the predominance micro and intermediate types (31,5%; 28.6%) corresponding to aver-age and below average values of overall performance. To study muscle and bone components of the body, the predominance of high and average values among boys with syndrome of vegetative dysfunction sympathetic tonic and below average values - in healthy boys.

An Encapsulated Delusion of Photosensitivity

Background: Most dermatologic and psychiatric providers are familiar with the entity of delusional infestation (DI). DI involves the fixed, false belief that one is infested with animate or inanimate matter and is associated with abnormal cutaneous symptoms such as biting or crawling, in the absence of any objective evidence. Although DI is more commonly encountered and discussed in the psychodermatology literature, other types of less well-known encapsulated delusions occur. Patients may present with an isolated belief that they emit a foul odor, known as delusion of bromosis or that they have irregular, ugly or deformed body parts with delusion of dysmorphophobia. These types of delusions are currently classified as delusional disorder, somatic type within the most recent DSM-V. Case: Herein, we report an unusual case of a middle-aged woman who presented to our outpatient psychodermatology clinic with a fixed, false belief that she had persistent and severe sensitivity to light. She had been evaluated by multiple providers for potential medical and dermatologic conditions that could account for her cutaneous symptoms of severe burning that were associated with thirst, subjective fever and self-reported elevations in blood pressure while in sunlight. All laboratory examinations, photo patch testing and skin exams were unremarkable. The patient pursued self-treatment with beta-carotene in surplus amounts, as a natural supplement to help decrease photosensitivity and photodamage that resulted in carotenemia and carotenosis of the skin. Based on current diagnostic criteria, she was diagnosed with delusional disorder, somatic type and treated with pimozide. Conclusion: This case description aims to increase familiarity of providers, especially dermatologists to atypical presentations of somatic delusional disorders they may encounter in order to provide further guidance of treatment and approach to such cases.

Delusional Disorder over the Reproductive Life Span: The Potential Influence of Menopause on the Clinical Course.

Background and Objectives. Recent evidence supports an association between estrogen levels and severity of psychopathology in schizophrenia women. Our main goal was to investigate whether delusional disorder (DD) women with premenopausal onset and those with postmenopausal onset differ in demographic and clinical features. Methods. Psychopathological symptoms were assessed in 80 DD women (DSM-IV-TR), at baseline and after six and 24 months. Scores in the PANSS, PSP for functionality, HRSD 17 items, C-SSRS for suicide, and the SUMD were considered outcome variables. For comparison purposes, t- and χ 2-tests were performed and nonparametric tests when necessary. Analysis of Covariance (ANCOVA) was conducted for multivariate comparisons. Results. 57 out of 80 DD women completed the study. When unadjusted, DD with premenopausal onset had a longer DUP, higher educational level, and a tendency toward higher rates of gynaecological disorders. Erotomanic type was most frequent in DD women premenopausal onset, and somatic and jealous types were most frequent in those with postmenopausal onset. After 24 months, DD women with premenopausal onset showed higher depressive symptoms and a tendency toward higher rates of psychotic relapses. Conclusions. Our results support that some aspects of psychopathology and insight may differ according to the onset of DD and the reproductive status.

Unremitting body odour: A case of Olfactory Reference Syndrome.

Olfactory reference syndrome (ORS) is a person's fear of exuding an offensive body odour which is not perceived by others. The objective of this case report is to highlight the challenges in diagnosing olfactory reference syndrome due to the lack of diagnostic criteria as well as its similarities to other psychiatric illnesses. We report a case of a young Chinese gentleman who was preoccupied with the belief that he had an offensive body odour which was not noticeable by others since the age of 10. As a result of this, he developed compulsive behaviour, social anxiety and avoidance, as well as depression. The patient had an array of psychiatric symptoms. He had symptoms which fulfilled criteria for obsessive compulsive disorder (OCD), delusional disorder somatic type, and social anxiety disorder. ORS remains a diagnostic challenge. Further studies are needed in this area for a better understanding of the disorder.

ANTHROPOMETRIC PARAMETERS OF STUDENTS IN RURAL AREAS OF KHANTY-MANSIYSK AUTONOMOUS OKRUG - YUGRA

There has been held an anthropometric study of 322 pupils, the Middle Ob natives, who permanently lived in the rural areas of the Surgut region of the Khanty-Mansiysk Autonomus Okrug - Ugra. The results were analyzed with use of the standard methods of mathematical statistics and the author’s program “The Identification of parameters of behavior attractors of the biosystems state vector in the m-dimensional phase space”, designed for study of systems with chaotic organization. The complex analysis of the key indices of physical development has revealed a number of differences reflecting the process of formation of opposite-sex somatic types in the initial stage of phylogenesis with formation of new adaptive signs in modern economic and environmental conditions. The age-related correspondence of the main anthropometric parameters with some enlargement of the dimensional characteristics, which was revealed in the examination of pupils, can be considered as a fortunate trend which reduces the risk of functional deviations in healthy children of Ugra.