Fabry disease - current data and therapeutic approaches Ilie-Robert Dinu, Stefan-George Firu Fabry disease represents an X-linked inherited disorder resulting in the accumulation of globotriaosylceramide Gb3.
This review explains the clinical manifestations and the possible therapies for this condition. Fabry disease is considered the second most frequent lysosomal storage disease. More than mutations of the galactosidase alpha GLA gene associated with this disorder have been identified.
Pain, either episodic crises or chronic pain, is one of the earliest symptoms in Fabry disease. Gastrointestinal, ocular, ear or skeletal manifestations may complete the clinical picture. Cardiac and renal involvements are the most severe complications leading to organ failure and death.
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The cerebrovascular lesions may result in severe symptoms including stroke at younger ages. The diagnosis of Fabry disease may be put by enzymatic assays of the alpha-galactosidase A AGAL-A activity in plasma or leukocytes but genetic analysis remains the gold standard in identifying the precise mutation and even guiding the treatment. Enzyme replacement therapy ERT was the first step in treating subjects with Fabry disease.
It proved important decrease of the number of sever clinical events and reduction of symptoms. Chemical chaperone therapy has many advantages including oral administration and was already approved in Europe and US, but it is suitable only for subjects with amenable mutations.
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Gene therapies either ex vivo or in vivo promise to represent a new era for many disorders including Fabry disease, the preliminary data being encouraging. Although many steps were taken in understanding the pathogeny of Fabry disease, future research is needed especially in the field of therapeutic approaches.
Between andhe studied Radiology as a postdoctoral course student at Kobe University Graduate School of Medicine.
Association between burnout and immunological and endocrine alterations Adela Magdalena Ciobanu, Ana Claudia Damian, Cristina Neagu Background: Weather a psychological construct or a clinical entity, numerous studies have been focused on the biological link between stress, burnout, and biomarkers. Aim: The purpose of our study was to search the existing literature and summarize the immunological and endocrine alterations found in burnout patients and, also, to provide updated data for clinicians to use.
Methods: We performed a literature search in PubMed database using specific terms.
Results: The primary focus of the literature seems to be the hypothalamic-pituitary-adrenal HPA axis, which may be affected due to chronic stress, which can be investigated by measuring hormonal responsiveness [corticotropin-releasing hormone CRHadrenocorticotropic hormone ACTHcortisol, prolactin, thyroid hormones].
An important challenge that this field is faced with is the pulsatile and diurnal fluctuation of them, which may not always be considered and the heterogeneity of burnout measurements. Many studies have explored the prostate anatomy mri radiology assistant pathways between the immune system and chronic stress, but only a few have specifically evaluated this process for future diagnostic or prognostic biomarkers.
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Conclusions: Burnout has cumulative effects on our body and stress does not affect us in a singular direction, on the contrary, significant clinical implications are found, not only microscopic, but affective symptoms leading to anxiety and depression. Anatomical remodeling of the aortic wall in relation with the cause of death Doru Adrian Seicaru, Mirela Albu, Razvan Mihail Plesea, Florentina Gherghiceanu, Ioan Cordos, Mircea Litescu, Dragos Ovidiu Alexandru, Iancu Emil Plesea, Valentin Titus Grigorean Aim: The authors set out to evaluate the correlations between three of the main morphological aortic parameters aortic diameter, intima, and media thickness and the cause of death.
Materials and Methods: Study group included 28 people died of a cardiovascular CV disease and 62 people died of a noncardiovascular NCV disease. Then, they were processed using the classical histopathological HP technique formalin fixation and paraffin embeddingstained with Hematoxylin-Eosin HE and Orcein, prostate anatomy mri radiology assistant the obtained histological slides were transformed into virtual slides.
Intima and media thicknesses were determined on virtual slides using a dedicated image analysis software. Results and Discussions: The most frequent CV causes of death were the ischemic heart diseases and the most frequent NCV causes of death were the inflammatory diseases.
Aortic diameter decreased from the aortic origin till the aortic end, with larger values in women than in men and in CV diseases than in NCV diseases. The difference in the remodeling of the aortic diameter between the two groups is smaller towards the abdominal region.
Intima thickness increased from the aortic origin till the aortic end and was larger especially in women died sânge în urină cu prostatită CV diseases, whereas in men there were some shifts at the extremities of the aorta. The difference in the remodeling of the intimal thickness between the two groups is extremely variable.
It was a divergent evolution of the correlation degree trends in the two groups.
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Conclusions: The three morphological parameters of the aorta diameter, intima, and media thicknesses are more or less influenced by the pathological status that caused patient s death by the patient s sex and by the topographic region where the measurement was made. The aim of our study was to analyze the possible associations between HOXB13 and TFF3 immunohistochemical IHC expression in sporadic prostate adenocarcinoma PACthe potential prognostic value in relation to the classical clinico-pathological parameters, as well as their role in defining distinct molecular subtypes of this malignancy.
The study group comprised patients diagnosed with PAC who underwent radical prostatectomy. IHC exam was performed using anti-HOXB13 and anti-TFF3 antibodies and a scoring system that permit the separation of the cases into two subgroups, with low and high immunoexpression, respectively.
The statistical analysis evaluated the relationship between the two immunomarkers and clinico-pathological parameters. The Kaplan-Meier curves and log-rank Mantel-Cox test were used for assessing the prostate-specific antigen PSA -progression free survival.
Further investigations in larger cohorts are imposed to validate the clinical significance of these subgroups in the diagnostic and prognostic of PAC. The objectives of the study were to illustrate the phenotypic variability of non-syndromic DA, to identify prostate anatomy mri radiology assistant of DA with hereditary genetic transmission, and establish the mode of DA genetic pattern in these cases, together with the determination of DA prevalence in the population group study.
Patients, Materials and Methods: The cross-sectional observational study was performed on a mixed population group, consisting of Caucasian patients, between January December The clinical evaluation protocol of patients with DA, used to illustrate their phenotype, included the following stages: oral examination, photographic examination, and radiological examination.
The evaluation protocol specific to the family genetic study of patients with DA, involved the following three stages: family survey, construction of the family tree and analysis of the pedigree structure. Results: The prevalence of DA in the population group was 2. Regarding the family genetic study, hereditary DA with autosomal dominant inheritance was present in In the other cases Conclusions: We consider that this study is of interest for current scientific research with applicability in dental medicine, by bringing actual information on the prevalence of non-syndromic DA prostate anatomy mri radiology assistant South-East Romania, the variety of phenotypic spectrum of DA for this geographic area, and the role of heredity in the DA genetic determinism in the studied population.
The issue of the present study was to analyze the associations between programmed death-ligand 1 PD-L1 immunoexpression and distribution of stromal tumor-infiltrating lymphocytes stTILs combined with clinico-morphological features of patients with TNBC. Secondly, our research evaluated PD-L1 immunoexpression as a prognostic factor and its correlation with p53 immunoexpression.
Но тут же в голову пришли слова Стратмора: Найдите кольцо.
Thirty cases with primary TNBC without prior neoadjuvant therapy were included in this research. Our results bring new insights to the fine connections between tumor microenvironment and molecular changes of TNBC. It helps us to better understand these aggressive tumors to identify the more useful biomarkers for predicting the response to adjuvant therapy and can represent a method for selecting the most suitable patients for immunotherapy.
Thymus pathology in myasthenia gravis with anti-acetylcholine receptor antibodies and concomitant Hashimoto s thyroiditis.
Patients, Materials and Methods: We retrospectively reviewed clinical, imaging, laboratory, thymic pathology, and outcome data that were obtained from medical records of patients with MG and concomitant HT, to whom a thymectomy was performed for a suspected thymic lesion.
All the surgical interventions were done in the Third Clinic of Surgery, St. Results: Four patients three females and one male were included. The mean age of the patients at the time of their thymectomy was All patients have been diagnosed with HT in their past medical history by a full thyroid panel [high thyroid-stimulating hormone TSH values, low free thyroxine fT4 values, and the presence of the anti-thyroid antibodies] and all of them have been treated with Euthyrox.
Our four patients expressed different MG subtypes, each of them being associated with different thymus pathology. The pathological exams also revealed a heterogeneous pattern of thymic lesions. In B2 thymoma, neoplastic epithelial cells expressed cytokeratin 19 CK19 immunoreactivity, high Ki67 labeling index and strong p63 immunopositivity.
Conclusions: In our series, MG and HT occurred simultaneously, or one of them was diagnosed before the other, raising some new questions regarding the immune mechanism of these two autoimmune diseases. Due to the heterogeneous morphological changes of the thymus that we found in this study, we can hypothesize that thymus is involved in the pathogenic mechanism of MG with anti-AChR-antibodies and concomitant HT development.
- За годы работы в АНБ до нее доходили слухи о неофициальных связях агентства с самыми искусными киллерами в мире - наемниками, выполняющими за разведывательные службы всю грязную работу.
- Она не клюнет на твою тактику «разделяй и властвуй», - сказал Стратмор, подходя еще ближе.
- Ce medicamente să cumpărați pentru prostatită
- Din bulionul de prostatită
- Элементы! - повторил Беккер.
- Но Соши, опередив его, уже отдала команду.
A four-case series and literature review PDF 8. Materials and Methods: Four aortic cross sections base, cross, thoracic, abdominal were collected during autopsy from 90 cases of all ages, processed using the classical histopathological HP technique formalin fixation and paraffin embedding and stained with Orcein and Goldner s trichrome.
The obtained histological slides were transformed into virtual slides. Results and Discussions: FE revealed an obvious decreasing general trend with age, present at all four levels of investigation.
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Smooth muscle fibers FM density showed almost no variation with age regardless of the level at which the measurement was made. FC COL density had an obvious increasing trend with age, expressed in all four aortic regions FE densities and FM densities were higher in men than in women, while FC COL densities were higher in women than in men in three of the aortic regions excepting, in all cases, the cross region. Conclusions: There were differences between men and women concerning the composition of prostate anatomy mri radiology assistant wall cellular and extracellular compartments.