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The study of breast diseases and their epidemiology deserves special attention. Another reason that grants special value to the breast diseases is the way it affects women health both physically and mentally. The commonest breast symptom is breast lump. Breast lumps are the most common symptom bringing patient to a breast clinic. They are also the most common cause of serious trouble for the patients keeping in view the increased incidence of breast cancer. This is partially due to increased awareness among females. In this study we detected the frequency of clinically palpable breast lumps and their causes and treatment presenting to the breast clinic of a busy private sector hospital. Methods: Study design: Descriptive case series Place of study: Department of Surgery, Holy family Hospital Karachi Duration of study: 1 year (from July 2020 till June 2021) Study population: All females presenting to the breast clinic within the mentioned period Data collection procedure: All the information was taken by the patient through history. Informed consent was taken for examination. Further investigations according to the triple assessment protocol were done in patients who presented with a lump to ascertain the exact nature and etiology of lump. All the data was then entered in a predesigned proforma. Results: A total of 126 patients presented to the breast clinic in Holy family Hospital. The number of patients presenting with breast lump was just above half of the total patients i.e 66 patients (52%).Out of these 66 patients, majority was benign i.e 53 patients(80%) with malignant lumps accounting for 13 patients,20 % of the total patients with breast lump.60(48%) patients presented with symptoms other than breast lump. The most common symptom other than lump was pain followed by nipple discharge, skin diseases etc. Conclusion: Breast lump was the most common symptom in patients presenting to our breast clinic and majority were benign and did not require surgery. Keywords: Clinically Palpable, Breast Lump, Triple Assessment

Objective: To determine the results of visual live anatomical demonstrations among medical students by Surgeons. Study Design: Prospective study. Setting: Department of Anatomy, Liaquat Medical and Dental College, Darul Sehat Hospital. Period: Period of 3 years on the students of Batch 2017, 2018 and 2019. Material & Methods: Total 300 students of first year medical students (MBBS) with full attendance in class over the year were included in study. The mode of presentations was theoretical, video and power-point presentations and through live surgeries. Exclusion criteria students with absenteeism in classes. Results: Out of 100 students enrolled every year, only 75 students were included due to full attendees as per inclusion criteria. Total of 225 students were enrolled. The mean age of students was 19.4 ±0.57 years in every year students. The students were assessed in their term exams and pre-prof exams and showed significant difference in pre-presentation and post-presentation scores. Another group scores with live surgical demonstrations compared those without live visual surgical demonstrations 75.89± 3.9 vs 74.7± 4.6 in year 2017, 79.46 ± 4.9 vs 74.8 ±4.3in year 2018) and 84.8± 3.4 vs 76.41± 4.3 in year 2019 students showed statistical significant difference p value

Lenalidomide and dexamethasone with bortezomib (VRd) or carfilzomib (KRd) are commonly used induction regimens in the U.S. This single-center, retrospective study evaluated outcomes and safety of VRd and KRd. Primary endpoint was progression-free survival (PFS). Of 389 patients with newly diagnosed multiple myeloma, 198 received VRd and 191 received KRd. Median PFS was not reached (NR) in both groups; 5-year PFS was 56% (95%CI, 48%-64%) for VRd and 67% (60%-75%) for KRd (P = 0.027). Estimated 5-year EFS was 34% (95%CI, 27%-42%) for VRd and 52% (45%-60%) for KRd (P

Whole genome sequencing (WGS) of newly diagnosed multiple myeloma patients (NDMM) has shown recurrent structural variant (SV) involvement in distinct regions of the genome (i.e. hotspots) and causing recurrent copy number alterations. Together with canonical immunoglobulin translocations, these SVs are recognized as “recurrent SVs”. More than half SVs were not involved in recurrent events. The significance of these “rare SVs” has not been previously examined. In this study, we utilize 752 WGS and 591 RNA-seq data from NDMM patients to determine the role of rare SVs in myeloma pathogenesis. 94% of patients harbored at least one rare SV event. Rare SVs showed an SV-class specific enrichment within genes and superenhancers associated with outlier gene expression. Furthermore, known myeloma driver genes recurrently impacted by point mutations were dysregulated by rare SVs. Overall, we demonstrate the association of rare SVs with aberrant gene expression supporting a driver role in myeloma pathogenesis.SIGNIFICANCECharacterization of multiple myeloma genome revealed that more than half structural variants are not involved in recurrent events. Here, we demonstrate that these rare SVs hold potential for myeloma pathogenesis through their gene expression impact. Rare SVs contribute to MM heterogeneity and have implications for development of individualized treatment.

Background: Laparoscopic cholecystectomy is minimal invasive procedure of choice for diseases due to gall bladder diseases due to reduced morbidity, comfort and patient’s early hospital discharge. Studies showed stone spillage with its retrieval from the fossa of gall bladder can be done by irrigation or be mopping with surgical gauze. Aims: To Compare between outcome of patients following saline irrigation versus dry mopping after laparoscopic cholecystectomy. Methodology: This was a cross-sectional study conducted at Hanif hospital from July 2019- May 2022 after taking ethical committee review. The study was conducted on 214 patients. The inclusion criteria involved age>18yrs till 60years either gender, with symptomatic gallstones. The patients with choledocholithiasis, immunocompromised, bleeding disorders were excluded. Results: Out of 214 patients enrolled in study mean age of patients was 42.63 ±5.7yrs . There was n=140:74 (65.4%: 34.6%) females: males. In 86% patients with laparoscopic cholecystectomy there was no complication of biliary spillage, while 14% patients experienced spillage of stones intraoperatively. All patients with dry mopping showed less postoperative pain and were discharged early from the hospital. However, the patients with wet irrigation had postoperative moderate pain. Surgical site infection was reported in 5 patients out of 15 patients with wet irrigation compared to dry mopping n=1 with prolonged hospital stay in patients with wet irrigation die to pain and surgical site infection. There was a statistical significant correlation when compared two groups with respect to hospital stay, postoperative pain, surgical site infection. P value-0.000. Conclusion: Our study has shown dry mopping to be better than wet irrigation in terms of increased postoperative pain, prolonged hospital stay & statistical significant correlation in patients with spillage of stones intraoperatively. Keywords: Stones spillage, dry mopping, wet irrigation

Objectives: To determine the effectiveness of antiepileptic drugs in treatment of acute traumatic brain injury for preventing seizure. Study Design: Cross Sectional Study. Setting: Ziauddin Hospital, North Campus, Karachi. Period: 2014 to 2016. Material & Methods: Eighty diagnosed cases of traumatic brain injury were included in this study. Patients were examined physically and neurological assessment, with mental status was assessed by Glasgow Coma scoring. A blood sample was taken and Computed tomography was performed. Antiepileptic therapy was given for a period of one week minimally or 10 days maximally and patients were assessed clinically for seizures. All information was collected in the predesign proforma. Results: The patients median age was 25[16-43]. There were 70% male and 30% female. Rate of seizure was 6.3% (5/80) cases mortality was observed 5% (4/80) cases. Rate of seizure was significantly high in patients who had moderate TBI as compare to mild TBI (p=0.016). It was also significantly high in those cases who had diabetes and IHD. Rate of mortality was significantly high in seizure cases (p=0.0005). Conclusion: Prophylactic antiepileptic drugs are effective in decreasing the risk of early post-traumatic seizures in acute traumatic brain injury.These drug may provide an important and alternative treatment option for seizure prevention in acute TBI patients and prevent further brain damage.

Monoclonal immunoglobulin deposition disease (MIDD), often associated with plasma cell dyscrasias, predominantly affects the kidneys. In this disease, hematologic response (HR) to treatment can be reliably assessed by International Myeloma Working Group (IMWG) consensus criteria, while uniform criteria for assessing renal response are lacking. We report a retrospective analysis of renal outcomes among 34 patients with MIDD. With most patients treated with bortezomib and autologous stem cell transplantation, 26 of 28 (94%) achieved very good partial HR or better. We demonstrate that both IMWG (based on estimated glomerular filtration rate, eGFR) and amyloid (based on proteinuria) criteria are needed to capture renal response: among 28 evaluable patients, 6 (21%) had isolated proteinuria, while 13 (46%) had isolated decreased eGFR. Using both criteria, which were concordant in patients with both decreased eGFR and proteinuria, 22 of 28 patients (79%) achieved a renal response, including 2 of 7 discontinuing dialyses. All 6 patients (100%) with isolated proteinuria and 7 of 13 (54%) with isolated decreased eGFR achieved renal response, suggesting that isolated proteinuria is an early manifestation of MIDD associated with reversible renal damage. Baseline eGFR predicted renal response (p = .02 by quartile) and survival (p = .02), while HR (CR vs. non-CR) did not, probably because of high HR rate. With a median follow-up of 110 months, the median overall survival was 136 months (95% CI: 79-NR) and median renal survival had not been reached. Prospective studies using uniform renal response criteria are needed to optimize the management of MIDD.

While operating upon the brain, deep seated lesions need to be approached by using retractor’s system, due to the soft and gelatinous nature of the brain. Using a conventional rigid, fixed retractor system for brain retraction appears harmful. As an alternative Thudicam Nasal Speculum (TNS) retractors can be used. This study was aimed to explore the outcome of TNS retractors in brain surgery. The cross-sectional study was conducted at Ziauddin University hospital north campus and National Medical Center Defense, Karachi, Pakistan, during a period between August 2019 to March 2020. A total of 60 patients were included (42 males and 18 females), with a median age of 25 years. In all these cases intra-cranial hematoma were removed with unremarkable damage, in aneurysm clipping it was found useful, without damaging adjacent areas and extraction of brain tumors was found to be very easy and non-damaging to the surrounding brain tissue. Patients had a follow-up period of about 03 months and contusion, ischemia or brain edema was not present in any patient. Only one patient died during second month after surgery due to Ischemic stroke of contra-lateral MCA. The study concludes that using TNS retractors was very helpful and non-damaging to the brain.

Background: Structural variants (SV) are known to play a critical role in the pathogenesis of multiple cancer types. Using whole genome sequencing (WGS), we recently characterized the SV landscape of 752 newly diagnosed multiple myeloma (MM) patients, identifying 68 SV hotspots and 152 recurrent copy number aberrations (CNA; Rustad et al. Blood Cancer Discovery 2020). Despite comprehensive annotation, more than half of SVs were not linked to any known MM genomic driver. The biological impact of these SV events, here defined as rare SV, occurring in 93% (702/752) of patients, is unknown. Methods: To study the biological impact of rare SVs, we interrogated WGS (n=752) and RNAseq (n=591) in the CoMMpass trial. Recurrent SVs identified by involvement in canonical Ig translocations, recurrent CNAs, or SV hotspots were excluded. All SVs within an event must not involve a recurrent region to be defined rare. To determine SV class-specific gene relationships, breakpoint enrichment was compared against a permuted background model for each SV class and gene expression direction, up to 1 Mb. Genes were considered affected if expression was above a gene specific outlier Z-score of +/- 2. Lastly, we modeled breakpoint density to the nearest MM superenhancer up to 10 MB, and compared to permuted background rates. Results: Of the total 8,942 SVs, 4,959 (55%) were identified as rare. 201 (34%) patients had at least 1 enriched rare SV event associated with gene expression outliers. Amongst over-expressed gene outliers, rare templated insertions and duplications were enriched within the gene body and up to 1 MB away. Rare inversions were enriched in genes 100kb and 1MB away, and rare translocations were associated with outliers 1 MB away. Amongst under-expressed gene outliers, rare complex SVs were enriched within the gene body, while deletion SVs were enriched in the gene body and up to 1 MB away. Rare duplications, translocations and templated insertions were enriched up to 1 MB of superenhancers. Rare templated insertions were significantly enriched against the background model (p < 0.001, Fisher Exact). Overall, 82% (104/126) of gene outliers affected by rare templated insertions were associated with superenhancers, (95 over-expressed, e.g. IRF6 and 9 under-expressed), 54% (130/237) by rare translocations, (105 overexpressed, e.g. FAM46A and 25 under-expressed), and 55% (96/172) by rare duplication events, (93 overexpressed, e.g. MAPK13, and 7 under-expressed). In addition, among the 853 outlier genes affected by enriched rare SVs, at least 15 are involved with B-cell development, suggesting a potential driver role in myeloma pathogenesis. Conclusion: In summary, leveraging WGS and RNA-seq of clinical samples, we demonstrate that rare SVs are frequently associated with aberrant gene expression, expanding our understanding of their potential role in heterogenous clinical response in patients diagnosed with MM. Citation Format: Monika Chojnacka, Benjamin Diamond, Bachisio Ziccheddu, Even Rustad, Kylee Maclachlan, Marios Papadimitriou, Eileen Boyle, Patrick Blaney, Saad Usmani, Gareth Morgan, Ola Landgren, Francesco Maura. Characterizing the landscape of rare structural variant events in newly diagnosed multiple myeloma [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 6067.