Cytogenetics and FISH Studies in Multiple Myeloma – A Retrospective Study from Western India

Multiple myeloma is characterized by a complex pattern of extensive genomic aberrations involving many chromosomes and it constitutes about 1% of all malignancies. We have performed conventional cytogenetic (CC) and interphase FISH on 58 cases of MM. Results showed that from 58 cases, only 08 cases had abnormal karyotype by conventional cytogenetic. On the other hand, interphase FISH study with 58 MM patients revealed 08 patients with normal results while 50 patients showed complex genetic aberrations. It included deletions of 13q14 (48.3%), 17p13 (13.8%), 11q13 (27.6%) along with translocation of IgH involving t(4;14)(51.7%) and t(14;16)(1,7%). We conclude that interphase FISH study should be performed in conjunction with conventional cytogenetic for prognostic significance in MM

Prevalence of prader-willi syndrome in Western India

The prevalence of Prader-Willi Syndrome (PWS) was studied using both classic cytogenetic and FISH techniques in referred cases of microdeletion 15q11-13 to our laboratory from Western India. A total of 53 cases were registered, of which 08(15%) were found positive for Prader-Willi Syndrome i.e. 15q11-13 microdeletion syndrome. FISH technique found to be suitable and sensitive to confirm clinically diagnosed PWS

Imatinib Resistance and Relapse in CML Patients with Complex Chromosomal Variants

The BCR-ABL tyrosine kinase inhibitor Imatinib is highly effective for chronic myeloid leukemia (CML). However, some patients gradually develop resistance to Imatinib, resulting in therapeutic failure. In the present study, we analyzed 192 CML patients, from which CML relapse was observed in 17 individuals with involvement of other chromosomes in addition to Philadelphia translocation and who were on treatment of Imatinib (400mg per day since last 3-4 years). Interestingly, all 17 individuals had only BCR/ABL fusion at the time of diagnosis and attained complete Cytogenetic and hematological remission (CHR) within 18 weeks of the therapy. Three individuals among these 17 were not regular in the uptake of Imatinib after attaining CHR and CCyR and could be probable reason for relapse. In addition, we have also recorded primary resistance to Imatinib in 4 individuals who were diagnosed with some complex chromosomal variants. Therefore, either involvement of other genes along with BCR/ABL fusion, or additional chromosomes and point mutation in the fusion BCR/ABL gene itself could be a reason for primary resistance and relapse to Imatinib

The possible significance of trisomy 8 in acute myeloid leukemia

Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker

Maximally Minimal Preons in Four Dimensions

Killing spinors of N=2, D=4 supergravity are examined using the spinorial geometry method, in which spinors are written as differential forms. By making use of methods developed in hep-th/0606049 to analyze preons in type IIB supergravity, we show that there are no simply connected solutions preserving exactly 3/4 of the supersymmetry.Comment: 18 pages. References added, comments added discussing the possibility of discrete quotients of AdS(4) preserving 3/4 supersymmetry

Gender pay gap, voluntary interventions and recession: the case of the British financial services sector

State institutions and trade unions put pressure on the British financial services sector to reform its gendered practices and reduce its gender pay gap following both the recession and the Equality and Human Rights Commission (EHRC) Inquiry (2009). This article considers the effect of these pressures by comparing the gender pay gap pre‐, during‐ and post‐recession periods. Using Labour Force Survey data, the article finds a marginal pay gap reduction in the post‐recession period, a reduction that was greater in financial services than in the rest of the economy. However, the financial services pay gap remained resilient and substantially higher at the top of the earnings distribution. Union membership and collective bargaining were shown to reduce the pay gap including for women members with children. In contrast, countervailing factors, including ethnicity and post‐recession longer working hours, contributed to the pay gap. The study reveals the limitations of voluntary interventions against a resilient gendered culture

LEARN: A multi-centre, cross-sectional evaluation of Urology teaching in UK medical schools.

OBJECTIVE: To evaluate the status of UK undergraduate urology teaching against the British Association of Urological Surgeons (BAUS) Undergraduate Syllabus for Urology. Secondary objectives included evaluating the type and quantity of teaching provided, the reported performance rate of General Medical Council (GMC)-mandated urological procedures, and the proportion of undergraduates considering urology as a career. MATERIALS AND METHODS: LEARN was a national multicentre cross-sectional study. Year 2 to Year 5 medical students and FY1 doctors were invited to complete a survey between 3rd October and 20th December 2020, retrospectively assessing the urology teaching received to date. Results are reported according to the Checklist for Reporting Results of Internet E-Surveys (CHERRIES). RESULTS: 7,063/8,346 (84.6%) responses from all 39 UK medical schools were included; 1,127/7,063 (16.0%) were from Foundation Year (FY) 1 doctors, who reported that the most frequently taught topics in undergraduate training were on urinary tract infection (96.5%), acute kidney injury (95.9%) and haematuria (94.4%). The most infrequently taught topics were male urinary incontinence (59.4%), male infertility (52.4%) and erectile dysfunction (43.8%). Male and female catheterisation on patients as undergraduates was performed by 92.1% and 73.0% of FY1 doctors respectively, and 16.9% had considered a career in urology. Theory based teaching was mainly prevalent in the early years of medical school, with clinical skills teaching, and clinical placements in the later years of medical school. 20.1% of FY1 doctors reported no undergraduate clinical attachment in urology. CONCLUSION: LEARN is the largest ever evaluation of undergraduate urology teaching. In the UK, teaching seemed satisfactory as evaluated by the BAUS undergraduate syllabus. However, many students report having no clinical attachments in Urology and some newly qualified doctors report never having inserted a catheter, which is a GMC mandated requirement. We recommend a greater emphasis on undergraduate clinical exposure to urology and stricter adherence to GMC mandated procedures

Mobile phones and head tumours. The discrepancies in cause-effect relationships in the epidemiological studies - how do they arise?

The uncertainty about the relationship between the use of mobile phones (MPs: analogue and digital cellulars, and cordless) and the increase of head tumour risk can be solved by a critical analysis of the methodological elements of both the positive and the negative studies. Results by Hardell indicate a cause/effect relationship: exposures for or latencies from 65 10 years to MPs increase by up to 100% the risk of tumour on the same side of the head preferred for phone use (ipsilateral tumours) - which is the only one significantly irradiated - with statistical significance for brain gliomas, meningiomas and acoustic neuromas. On the contrary, studies published under the Interphone project and others produced negative results and are characterised by the substantial underestimation of the risk of tumour. However, also in the Interphone studies a clear and statistically significant increase of ipsilateral head tumours (gliomas, neuromas and parotid gland tumours) is quite common in people having used MPs since or for 65 10 years. And also the metaanalyses by Hardell and other Authors, including only the literature data on ipsilateral tumours in people having used MPs since or for 65 10 years - and so also part of the Interphone data - still show statistically significant increases of head tumours

Bronchopulmonary dysplasia: clinical aspects and preventive and therapeutic strategies

Abstract Background Bronchopulmonary dysplasia (BPD) is the result of a complex process in which several prenatal and/or postnatal factors interfere with lower respiratory tract development, leading to a severe, lifelong disease. In this review, what is presently known regarding BPD pathogenesis, its impact on long-term pulmonary morbidity and mortality and the available preventive and therapeutic strategies are discussed. Main body Bronchopulmonary dysplasia is associated with persistent lung impairment later in life, significantly impacting health services because subjects with BPD have, in most cases, frequent respiratory diseases and reductions in quality of life and life expectancy. Prematurity per se is associated with an increased risk of long-term lung problems. However, in children with BPD, impairment of pulmonary structures and function is even greater, although the characterization of long-term outcomes of BPD is difficult because the adults presently available to study have received outdated treatment. Prenatal and postnatal preventive measures are extremely important to reduce the risk of BPD. Conclusion Bronchopulmonary dysplasia is a respiratory condition that presently occurs in preterm neonates and can lead to chronic respiratory problems. Although knowledge about BPD pathogenesis has significantly increased in recent years, not all of the mechanisms that lead to lung damage are completely understood, which explains why therapeutic approaches that are theoretically effective have been only partly satisfactory or useless and, in some cases, potentially negative. However, prevention of prematurity, systematic use of nonaggressive ventilator measures, avoiding supraphysiologic oxygen exposure and administration of surfactant, caffeine and vitamin A can significantly reduce the risk of BPD development. Cell therapy is the most fascinating new measure to address the lung damage due to BPD. It is desirable that ongoing studies yield positive results to definitively solve a major clinical, social and economic problem