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Background: This study aimed to analyze the impact of low doses of ionizing radiation on healthcare workers using dosimeter data and several biomarkers of effects and to assess the suitability of those tests. Methods: Data from the last medical examinations, obtained from the medical records of 148 healthcare workers, were analyzed. They were divided into three groups of workers: nuclear medicine (NM), interventional radiology (IR), and general radiology (GR). The examination included hematological parameters and cytogenetic tests: unstable chromosomal aberrations (UCAs) and micronucleus test (MNT). The received cumulative 5-year dose was calibrated into personal dose equivalents Hp (10)(PDE). Results: There were older employees and more women in NM than in the other two groups. NM workers had more years of exposition than employees in IR and GR. PDE and years of exposition were significantly higher in NM. In the multivariate logistic regression model NM group was positively related to UCAs after adjusting for age, sex, and smoking. According to the results of the multivariate analysis, female healthcare workers and those employed at IR had higher values of erythrocytes than males and those employed in NM or GR departments. Conclusions: Nuclear medicine workers are at a higher risk of developing neoplastic due to consistent exposure to low doses of ionizing radiation. The results indicate that the UCAs test might be more suitable for detecting radiation-induced damage at low doses than MNT. Compulsory monitoring of the health status at periodic examinations is required to prevent occupational diseases of nuclear medicine workers. [ABSTRACT FROM AUTHOR]

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Abstract Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.

Synovial sarcoma (SS) is highly malignant tumor that occurs mainly in adolescents and young adults and is usually seen in the extremities. However, primary SS arising from the lung is extremely rare, accounting for 0.3% to 1.3%. Primary pulmonary SS (PPSS) is an extremely aggressive malignant tumor that can invade adjacent organs or give distant metastases. Besides clinical evaluation and imaging methods for definitive diagnosis, immunohistochemical examination is must. We report a case of elderly male with left lung mass lesion invading into the pericardium and left-sided pleural effusion with a history of smoking. Positron emission tomography (PET)–computerised tomography (CT)-guided trucut biopsy from lung mass lesion led to the diagnosis, and thoracoscopic pleural biopsy showed the pleural involvement with final diagnosis of PPSS (monophasic type). There are no guidelines for optimal treatment due to the rarity of such tumors. Current treatment includes resectional surgery and adjuvant chemotherapy and/or radiotherapy. But because of advanced age and poor performance status, our patient was not candidate for any treatment but palliation.

To determine if choroidal melanoma patients want cytogenetic prognostic information. Ninety-nine choroidal melanoma patients completed a questionnaire regarding their opinions about receiving prognostic information. The perceived usefulness of prognostic information was evaluated in patients who had undergone cytogenetic testing. Depressive symptoms, quality of life, and interest in supportive counseling during test receipt were assessed. Ninety-seven percent of respondents reported that they would have wanted prognostic information at the time of their treatment and 98% of respondents reported that supportive counseling should be offered when prognostic information is given. Patients who had received a more favorable prognostic result were more likely to endorse the usefulness of cytogenetic testing than were patients who had received a less favorable prognostic result. Psychological status did not vary significantly as a function of cytogenetic test result. Prognostic information was important to patients with choroidal melanoma, even in the absence of prophylactic measures which might improve prognosis.

In the past decade, a notable advance has been made in the understanding of the pathogenesis of NK/T-cell lymphomas; however, their diagnosis remains difficult because of their rarity and clinical and morphological variabilities. The paper generalizes the ten-year experience of the Hematology Research Center, Ministry of Health of Russia, in diagnosing and treating hepatosplenic T-cell lymphoma (HSTL), considers the problems of differential diagnosis with other hematological diseases occurring with similar clinical and laboratory symptoms, and lays down current approaches to the diagnosis and treatment of this condition. A clinician’s view of the problem of diagnosis and treatment of this disease is given. HSTL is shown to be a heterogeneous group of diseases differing in a T-cell receptor chain gene rearrangement, the clinical course of the disease, and overall survival (OS). According to our data, 3-year OS was 12%; the median survival was 26 months. Two-year OS for γδ and αβ HSTL was equal to 25 and 70%, respectively. The difference in OS for the variants of HSTL failed to reach statistical significance (because the sample might be insufficient).

Objective: Clinical genetic testing is expanding rapidly, but the application of new testing has not been reported in an unselected, comprehensive congenital heart disease (CHD) patient population. This study aims to identify cytogenetic testing practices and diagnostic yield in infants with CHD as an important first step toward understanding clinical utility of dedicated cytogenetic testing. We hypothesized that chromosome microarray analysis (CMA) would identify genetic abnormalities underlying both syndromic and isolated CHD., Design: This is a single institution retrospective study that characterizes cytogenetic testing practices and diagnostic yield for all cytogenetic testing in each infant identified with CHD over a 32-month period. CHD was classified by type, complexity, and presence or absence of extracardiac anomalies., Results: Among the 1087 infants identified with CHD by echocardiogram, 277 infants (25%) had some form of cytogenetic testing, including karyotype, fluorescence in situ hybridization, and/or CMA. Forty-one percent of infants who had cytogenetic testing had more than one test. CMA was performed in 121 patients (11%), and abnormalities (both clinically significant and variants of unknown significance) were identified in 35/121 (29%). Forty-nine percent of CMA abnormalities were in patients with apparently isolated nonsyndromic CHD., Conclusions: This single institution study identified that only 25% of infants with CHD underwent cytogenetic testing, indicating possible underutilization of testing in this age group. The high multiple testing rate indicates a need for improved guidelines for cost effective testing approaches. The diagnostic yield in this study suggests that CMA is a particularly useful first screening test when a specific syndrome is not clinically identifiable. Larger studies investigating cardiac lesion-specific diagnostic yield in isolated CHD are warranted., (© 2013 Wiley Periodicals, Inc.)