Background Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway, and particularly important for early detection and cancer prevention. The purpose of this study was to explore the diagnostic yield of targeted sequencing of the high priority BC genes. Methods We have utilized a cost-effective targeted sequencing approach of high priority actionable BC genes ( BRCA1 , BRCA2 , ERBB2 and TP53) in a homogeneous patient cohort from Bangladesh ( n = 52) by using tumor and blood samples. Results Blood derived targeted sequencing revealed 25.58% (11/43) clinically relevant mutations (both pathogenic and variants of uncertain significance (VUS)), with 13.95% (6/43) of samples carrying a pathogenic mutations. We have identified and validated five novel pathogenic germline mutations in this cohort, comprising of two frameshift deletions in BRCA2, and missense mutations in BRCA1 , BRCA2 and ERBB2 gene respectively. Furthermore, we have identified three pathogenic mutations and a VUS within three tumor samples, including a sample carrying pathogenic mutations impacting both TP53 (c.322dupG; a novel frameshift insertion) and BRCA1 genes (c.116G > A). 22% of tissue samples had a clinically relevant TP53 mutation. Although the cohort is small, we have found pathogenic mutations to be enriched in BRCA2 (9.30%, 4/43) compare to BRCA1 (4.65%, 2/43). The frequency of germline VUS mutations found to be similar in both BRCA1 (4.65%; 2/43) and BRCA2 (4.65%; 2/43) compared to ERBB2 (2.32%; 1/43). Conclusions This is the first genetic study of BC predisposition genes in this population, implies that genetic screening through targeted sequencing can detect clinically significant and actionable BC-relevant mutations. Electronic supplementary material The online version of this article (10.1186/s12881-019-0881-0) contains supplementary material, which is available to authorized users.

In this paper, a phase-based direct average strain estimation method is developed. A mathematical model is presented to calculate axial strain directly from the phase of the zero-lag cross-correlation function between the windowed precompression and stretched post-compression analytic signals. Unlike phase-based conventional strain estimators, for which strain is computed from the displacement field, strain in this paper is computed in one step using the secant algorithm by exploiting the direct phase-strain relationship. To maintain strain continuity, instead of using the instantaneous phase of the interrogative window alone, an average phase function is defined using the phases of the neighboring windows with the assumption that the strain is essentially similar in a close physical proximity to the interrogative window. This method accounts for the effect of lateral shift but without requiring a prior estimate of the applied strain. Moreover, the strain can be computed both in the compression and relaxation phases of the applied pressure. The performance of the proposed strain estimator is analyzed in terms of the quality metrics elastographic signal-to-noise ratio (SNRe), elastographic contrast-to-noise ratio (CNRe), and mean structural similarity (MSSIM), using a finite element modeling simulation phantom. The results reveal that the proposed method performs satisfactorily in terms of all the three indices for up to 2.5% applied strain. Comparative results using simulation and experimental phantom data, and in vivo breast data of benign and malignant masses also demonstrate that the strain image quality of our method is better than the other reported techniques.

No abstract

No abstract

Varying degrees of congenital ear deformity (microtia) occurs 1 in about 8000 to 10,000 live births. One of the greatest challenges in plastic surgery is total auricular reconstruction as it demands precise technique as well as artistic creativity. In Bangladesh, recent advancement in the technique of carving and sculpting rib cartilage  and better training for achieving finer anatomic details has given a break through in the surgical management of  deformed ear. Between January 2009 and January 2010, total ear reconstruction was done with a two-stage method using  autogenous costal cartilage in the Department of Plastic Surgery, Dhaka Medical College Hospital, Dhaka. In the first stage, lobule rotation, fabrication of the cartilage framework and its implantation were performed. In  the second stage, elevation of the auricle and formation of the tragus were done. A total of 10 cases with microtia comprising different age group have been operated. All of them underwent stage I operation; among them 8 patients went through stage II procedure while the other 2 are waiting for the same. Results: 10 patients, ranging in age between 8 and 25 years, were operated on using autogenous costal cartilage between 2009 and 2010. Six patients were males and four were females. Unilateral microtia was present in all of these patients (7 right, 3 left). Eight cases were with Grade III microtia; the remaining 2 cases presented with Grade II microtia. The follow-up period was one month to one year. Seven among 8 cases presented acceptable ear contour after second stage ear reconstruction. The cranioauricular angle of the reconstructed ears was also similar to that of the opposite ears. Unfavourable result was deformation of the constructed helix which occurred in one case. Though it is impossible to reconstruct an ear that appears exactly as the opposite one, the new ears which were  made were of correct size and in normal position with impressive finer three dimensional details that achieved patient’s satisfaction as well as surgeon’s professional gratification.Key words: Microtia; Two stage auricular reconstruction; Autologous costochondral cartilageBDJPS 2010; 1(2): 14-19