Evaluation of ß-Thalassaemia Cases for Common Mutations in Western Rajasthan.

ß-Thalassaemia, the most common monogenic disorder, is characterized by genetic heterogeneity at the molecular level. More than 300 mutations of the ß globin gene have been characterized all over the world, however, few common mutations account for majority of the cases in various populations. The present study aimed to screen known cases of ß-thalassaemia in the Western part of Rajasthan state for five common mutations. The study included 144 known cases of ß-thalassaemia of all clinical phenotypes. Cases were diagnosed based on clinical features, haematology investigations including haemogram and Hb-HPLC. Blood samples from cases were taken for mutation analysis. After DNA extraction, mutations were characterized by the polymerase chain reaction method employing allele specific priming technique (AMRS) to study the five mutations including IVS-I-5 (G → C), IVS-I-1 (G → T), CD41/42 (-TCTT), CD 8/9 (+G) and 619 bp deletion from the 3' end of the ß-globin gene using a total of seven different primers. Of all 144 cases, 74 (51.38% of all) cases were of ß-thalassaemia major, five (3.4% of all) cases were of ß-thalassaemia intermedia and 65 (45.14% of all) cases were of ß-thalassaemia minor. Mutation analysis revealed that five common mutations were present in 130 (90.27% of all) cases. Among identified mutations, highest frequency of mutation was of IVS-I-5 (G → C) identified in 73 cases (50.7% of all cases). In 11 (7.63% of all) cases, more than one mutation was identified. ß-Thalassaemias are common in Western Rajasthan; however, there is dearth of literature from this part of the country. We observed that five common mutations are common in this part of the country also. These observations are helping us in forming the basis for comprehensive diagnostic database that would not only be useful for genetic counselling but also for prenatal diagnosis.

Primary Ewings sarcoma in liver - A rare case report with review of literature.

Ewing's sarcoma family of tumours include both peripheral primitive neuroectodermal tumour (PNET) and Ewing's sarcoma including both intraosseous and extra osseous sites. Rarest of all is the involvement of liver as primary site, of which only 4 case reports have been published. We report a very rare case of 4 year old male child with primary Ewing's Sarcoma in the liver along with review of literature. The child presented with pain abdomen and low grade fever and hepatomegaly. On putting extensive IHC panel on liver SOL biopsy the small round cells were positive for FLI-1 & CD99 & were immunonegative for OCH, LCA, AFP, WT1, NSE, MYOGENIN, B-catenin & glypican 3. The histopathological and immunohistochemical profile was suggestive of Ewing's Sarcoma. To our knowledge, this is the fifth reported case of Ewing's Sarcoma occurring in liver as primary & first case to be present in a young boy of 4 years age.

Evaluation of Factors Affecting Awareness About Beta-Thalassemia in Western Rajasthan.

AIMS: To determine the factors influencing awareness about beta-thalassemia in the population. SETTINGS AND DESIGN: A cross sectional study was conducted by the Department of Pathology, AIIMS, Jodhpur. METHODS AND MATERIAL: The study population included participants with medical as well as non-medical background, to ensure representation of all sections of the society. Data was collected in an objective survey form drafted in simple language. STATISTICAL ANALYSIS USED: The data was analysed using Microsoft Excel and Chi Square Test for Independence was performed. RESULTS: The participants with a positive family history had significantly more knowledge compared to others, but even these participants didn't have complete knowledge about the disease. Age and gender had no significant impact on the results. The mode of occurrence of beta-thalassemia was known to less than half of the participants, with even less number being aware of the fact that diagnosis of beta-thalassemia can be made before birth. Participants with a medical background were aware that there were several forms of beta-thalassemia, but the knowledge about treatment options was limited. CONCLUSIONS: Various factors affect the awareness in the general population, which has an effect on the outcome of screening programmes. There is a need for successful implementation of a screening programme for beta-thalassemia in order to reduce the financial burden that it imposes on healthcare facilities and to lessen the emotional burden on relatives of patients with the disease.

Use of Intraoperative Ultrasound During Breast Conservation Surgery (BCS) for Palpable Breast Cancer: an Extremely Effective Approach with Improved Oncological Outcome.

For clinically low-volume breast cancer patients subjected to BCS, there is a concern regarding achieving microscopically negative margins and avoiding inadvertent resection of excessive volume of breast tissue. In this study, we utilized intraoperative ultrasound to guide resection in patients subjected to BCS. This was compared with palpation-guided resection. A total of 80 patients of invasive breast carcinoma (T1-2, N0-1, M0) (39 patients in USG-guided BCS (group A) and 41 patients in palpation-guided BCS (group B)) were enrolled. In group A, intraoperative localization was performed using a multifrequency 10-MHz linear array ultrasound probe and tumors were excised under USG guidance. In group B, tumor excision was guided by the palpation skills of the surgeon with the aim of achieving grossly negative margin circumferentially. Specimen volume was measured using water displacement technique. One out of 39 patients (2.56%) in group A and 5 out of 41(12.19%) in group B had positive margin in histopathology report. Mean of specimen volume in groups A and B was 42.67 and 57.97 ml respectively (P = 0.011). Mean of excess volume removed in study group was 4.19 ml and in control group, it was 24.11 ml (P = < 0.01). Mean of calculated resection ratio in study group was 1.1 and in control group was 1.73 (P = 0.01). Use of intraoperative ultrasound during BCS may help in improving margin clearance, reducing additional procedures, and preserving the normal breast parenchyma. The safety, ease, and effectivity of this technique may result in its wider application in future.

Interneural tissue clearance in axillary dissection for breast cancer: What is the importance?

BACKGROUND: Breast cancer is the most common cancer in women and second most common type of cancer overall. The prime objectives of axillary surgery in the management of breast cancer are 1) accurate staging, 2) treatment to cure and 3) quantitative information of metastatic lymph nodes for prognostic purposes and allocation to adjuvant protocols. During axillary dissection, all 3 level lymphnodes are removed, while the important axillary structures (axillary vein, long thoracic and thoracodorsal nerves) are preserved. The latter two structures are particularly vulnerable to injury when dissecting the tissue between them (the interneural tissue). METHODS: This prospective non-randomized study, conducted on 125 female patients, who underwent axillary lymphadenectomy for breast cancer has evaluated the importance of dissection of the Interneural tissue during axillary dissection in breast cancer surgery by reviewing the lymph node yield and metastasis rate. The interneural tissue was excised separately after a routine axillary dissection. RESULTS: Lymph nodes were found in the interneural tissue of 70 out of 125 patients (56%). The average number of interneural lymph nodes recovered per specimen was 1.3. The interneural tissue lymph nodes were positive for metastasis in 10 (8%) patients. There was no incidence of isolated metastasis in the internerve tissue nodes. CONCLUSIONS: There is a significant incidence of lymph nodes (56%) and axillary node metastases (8%) in the tissue lying between the long thoracic and thoracodorsal nerves. Therefore, meticulous dissection and excision of this interneural tissue is strongly recommended to optimize decision making regarding adjuvant treatment and outcome.

Synovial Sarcoma of Oral Cavity-a Rare Case Report.

Synovial sarcoma (SS) of oral cavity is very rare tumor. Only 3-10% of all synovial sarcomas originate in the head and neck. It is more commonly seen in young male population. The most common sites in the head and neck region are hypopharynx and parapharyngeal spaces. IHC is usually required for diagnosis. Its nature and biological behavior is quite different than squamous cell carcinoma of oral cavity. It is an aggressive tumor with poor prognosis.We had such case of SS of lower gum and alveolus. Patient underwent surgical excision of the tumor with neck dissection and adjuvant radiotherapy on the basis of various prognostic factors.

Cervical esophago-gastric anastomosis using linear cutter stapler in esophageal cancer.

BACKGROUND: Anastomosis in gastrointestinal (GI) surgery is a commonly performed procedure. Irrelevant various methods of intestinal anastomosis were followed - recent advance is the use of a stapler as a device for GI anastomosis. Due to the use of staplers, technical failures are a rarity, anastomosis is more consistent and can be used at difficult locations. MATERIALS AND METHODS: : Between 2008 and August 2016, 75 patients with esophagus or gastroesophageal junction carcinoma underwent curative intent resection either via a right posterolateral thoracotomy (TTE) or transhiatal esophagectomy or video-assisted thoracoscopic surgery with linear stapler anastomosis. RESULTS: The average follow-up was approximately 9 months. Anastomotic leakage was observed in three patients. On follow-up, two patients presented with difficulty in swallowing, and on upper GI endoscopy, they were found to have anastomotic site stricture. There was no perioperative mortality. CONCLUSION: The linear-stapled esophagogastric anastomosis is a safe and effective anastomotic technique, which can decrease the rate of leak, postoperative dysphagia, and anastomotic stricture. As in this technique only two linear staplers are used in comparison to other techniques where three or more staplers are used, it is also cost-effective. The procedure deserves more attention and further application.