ObjectiveTo find out the knowledge, attitude, practice, and barriers of cervical cancer screening in mid-western rural, Nepal.MethodsA hospital-based cross-sectional study was conducted. Women aged 20 or more were interviewed using a structured questionnaire regarding the socio-demographic information, knowledge, attitude, practice, and barriers to the cervical cancer screening.ResultsTotal of 360 participants were recruited for this study, mean age was 30.13±10.4 years. More than 87% of participants had inadequate knowledge, but around 72% had a favorable attitude towards cervical cancer screening. There was a significant portion of women (86.4%) had never done any cervical cancer screening test. Despite being higher literacy rate of Brahmin and Chhetri ethnic group, they were less likely to attend the cervical cancer screening than Dalit and Janajati (p<0.001); and those who had a positive family history of cancer were more likely to attend the cervical cancer screening (p<0.001). Similarly, married women, who had adequate knowledge and or favorable attitude, were more likely to practice cervical cancer screening, though statistically not significant. Factors such as “No symptoms,” “Lack of awareness,” “Embarrassment,” etc. were the most common barriers for the cervical cancer screening.ConclusionThe adequate knowledge and practice of cervical cancer screening were meager among rural Nepalese women, but most of them had a favorable attitude. There is an imperative need for related awareness programs to promote the uptake of cervical cancer screening tests.
Background The germline cancer predisposition genes associated with increased risk of each clinical subtype of breast cancer, defined by estrogen receptor (ER), progesterone receptor (PR), and HER2, are not well defined. Methods A total of 54 555 invasive breast cancer patients with 56 480 breast tumors were subjected to clinical hereditary cancer multigene panel testing. Heterogeneity for predisposition genes across clinical breast cancer subtypes was assessed by comparing mutation frequencies by gene among tumor subtypes and by association studies between each tumor subtype and reference controls. Results Mutations in 15 cancer predisposition genes were detected in 8.6% of patients with ER+/HER2-; 8.9% with ER+/HER2+; 7.7% with ER-/HER2+; and 14.4% of ER-/PR-/HER2- tumors. BRCA1, BRCA2, BARD1, and PALB2 mutations were enriched in ER- and HER2- tumors; RAD51C and RAD51D mutations were enriched in ER- tumors only; TP53 mutations were enriched in HER2+ tumors, and ATM and CHEK2 mutations were enriched in both ER+ and/or HER2+ tumors. All genes were associated with moderate (odds ratio > 2.00) or strong (odds ratio > 5.00) risks of at least one subtype of breast cancer in case-control analyses. Mutations in ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53 had predicted lifetime absolute risks of at least 20.0% for breast cancer. Conclusions Germline mutations in hereditary cancer panel genes confer subtype-specific risks of breast cancer. Combined tumor subtype, age at breast cancer diagnosis, and family history of breast and/or ovarian cancer information provides refined categorical estimates of mutation prevalence for women considering genetic testing.
Robot-assisted video endoscopic inguinal lymphadenectomy is a feasible technique which allows for a similar nodal yield while being associated with lower morbidity than open inguinal lymph node dissection in patients without bulky groin adenopathy.
Background:Pulmonary complications of diabetes mellitus (DM) have been poorly characterized. Some authors have reported normal pulmonary functions and even concluded that spirometry is not at all necessary in diabetic patients. Some studies have shown abnormal respiratory parameters in patients of DM. Moreover, the duration of DM and glycemic control have varied impact on the pulmonary functions.Aims and Objectives:The study was undertaken to analyze the pulmonary function parameters in diabetic patients and compare them with age and gender matched healthy subjects. We correlated forced vital capacity (FVC) and forced expiratory volume in 1 second (FEV1) in diabetic patients with duration of the disease and glycosylated hemoglobin (HbA1c).Materials and Methods:Pulmonary function tests (PFTs) were recorded in 60 type 2 diabetic male patients and 60 normal healthy male controls aged 40-60 years by using Helios 702 spirometer. The PFTs recorded were - FVC, FEV1, FEV1/FVC, FEF25, FEF50, FEF75, FEF25–75, FEF0.2–1.2, and peak expiratory flow rate (PEFR). HbA1c of all the patients was estimated by ion exchange resin method, which is a very standard method of estimation. PFTs of diabetic patients and controls were compared by applying Student′s unpaired t test. Associations between FVC and FEV1 and HbA1c and duration of illness in diabetic patients were analyzed by applying Pearson′s coefficient.Results:The PFTs were significantly decreased in diabetic patients compared with the healthy controls except FEV1/FVC. There was no correlation found between FVC and FEV1 and duration of illness as well as HbA1c.Conclusion:DM being a systemic disease, which also affects lungs causing restrictive type of ventilatory changes probably because of glycosylation of connective tissues, reduced pulmonary elastic recoil and inflammatory changes in lungs. We found glycemic levels and duration of disease are probably not the major determinants of lung pathology, which requires further research.
PURPOSE The current diagnostic testing algorithm for Lynch syndrome (LS) is complex and often involves multiple follow-up germline and somatic tests. We aimed to describe the results of paired tumor/germline testing performed on a large cohort of patients with colorectal cancer (CRC) and endometrial cancer (EC) to better determine the utility of this novel testing methodology. MATERIALS AND METHODS We retrospectively reviewed a consecutive series of patients with CRC and EC undergoing paired tumor/germline analysis of the LS genes at a clinical diagnostic laboratory (N = 702). Microsatellite instability, MLH1 promoter hypermethylation, and germline testing of additional genes were performed if ordered. Patients were assigned to one of five groups on the basis of prior tumor screening and germline testing outcomes. Results for each group are described. RESULTS Overall results were informative regarding an LS diagnosis for 76.1% and 60.8% of patients with mismatch-repair–deficient (MMRd) CRC and EC without and with prior germline testing, respectively. LS germline mutations were identified in 24.8% of patients in the group without prior germline testing, and interestingly, in 9.5% of patients with previous germline testing; four of these were discordant with prior tumor screening. Upon excluding patients with MLH1 promoter hypermethylation and germline mutations, biallelic somatic inactivation was seen in approximately 50% of patients with MMRd tumors across groups. CONCLUSION Paired testing identified a cause for MMRd tumors in 76% and 61% of patients without and with prior LS germline testing, respectively. Findings support inclusion of tumor sequencing as well as comprehensive LS germline testing in the LS testing algorithm. Paired testing offers a complete, convenient evaluation for LS with high diagnostic resolution.
Background: Cholesteatoma is potentially dangerous condition as it can extend and erode into adjacent structures and can cause various serious complications. HRCT temporal bone very clearly depicts the anatomy of various small important structures in middle and inner ear cavity. Hence it is an excellent modality and investigation of choice in diagnosing and defining the extent of cholesteatoma. It has become essential investigation in preoperative planning for surgeon. Present study shows good correlation of various preoperative HRCT findings with intraoperative findings. Aims & Objective: To study the role of HRCT temporal bone in pre-operative evaluation of cholesteatoma. Material and Methods: Total 35 cases with clinically suspected cholesteatoma were selected for this study. All the patients were from Sir Sayajirao General Hospital, Vadodara and were scanned at the CT scan, Radiology Department of the hospital. The important intraoperative surgical findings were correlated with pre-operative HRCT findings. The results were analyzed, studied and compared with similar studies of the past. Results: Present study shows good correlation between the preoperative findings of cholesteatoma by HRCT temporal bone and intraoperative surgical findings. Conclusion: In present study HRCT enabled the pre-operative delineation of the cholesteatoma and the recognition of its manifestations and complications. HRCT is confirmed to be valuable in the diagnosis and in guiding the surgical management of cholesteatoma.
The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of both germline and somatic mutations that can accelerate and streamline the time to diagnosis and preserve specimen. TumorNext-Lynch-MMR can detect single nucleotide variants, small insertions and deletions in 39 genes that are frequently mutated in Lynch syndrome and colorectal cancer. Moreover, the panel provides microsatellite instability status and detects loss of heterozygosity in the five Lynch genes; MSH2, MSH6, MLH1, PMS2 and EPCAM. Clinical cases are described that highlight the assays ability to differentiate between somatic and germline mutations, precisely classify variants and resolve discordant cases.
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