A Study of School Lunch Habits in Primary School Children during Recess Time

Children are the asset of any nation. These should be take heed very carefully. The paper aims to examine the eating habits of children during recess time in primary schools of Hyderabad, a city of Pakistan. Recess is the crucial time for the healthy development of the school children. Continue teaching and learning process in a particular classroom without taking any food makes the students tired and fatigue which ultimately affects their learning. The main objective of the study was to explore the food items that are mostly taken up by the children during recess time and their reason. For the study, all Government primary schools of Hyderabad city were selected as the population while; convenient method of sampling was used to select the 80 children from 20 selected primary schools. Qualitative method approach was used to collect the data from these students which consist of an interview schedule. The findings show that majority of the students neither eat breakfast at home nor bring food from home to eat during recess time and like to take food from the pushcarts standing inside or the outside the school. Keywords: School lunch, Recess time, Health, Primary school Children

Role of Tuition Centers in the Performance and Achievement of Students: A Case of Hyderabad District, Sindh, Pakistan

This research is designed to explore the importance of tuition centers in the perception of students. It tries to find out the role, supporting methods, environment and good characteristics of tuition centers, their owners and management to support the student to learn effectively and bring good grades in their board examinations. A qualitative research method employed to collect data from the 30 participating students who receive tuition at different centers of Hyderabad district. Semi-structured interview protocol was design; discussed with five experts of field; improved as per suggestions of field experts; piloted on three students; and then implemented and conducted on the recruited sample of students of class Higher Secondary Certificate -II (XII) in order to collect data. The results revealed that the students who receive tuition at different centers bring good grades in their examination and have suitable knowledge about their subjects taught at centers. Their previous grades were found good and attractive such as A-1 and A with more than 80% and 70% marks respectively, due to coaching received at tuition centers that time, reveled from experiences shared by students

Critical Analysis of the Impact of Job on the Social Status of Women in Pakistan

Although the larger portion of the world population is women but hardly 25% women are employed. Furthermore, they have been given second class status. Considering the need and importance of job for women, a survey regarding the impact of job on the social status of women has been conducted. A sample of 100 employed and 100 unemployed women was randomly selected from access population for the study. The findings of the study showed that there was significant effect of the job on the social status and empowerment of women. The employed women of the urban area had got more opportunities than the employed women of rural area. The marriages of women were also closely associated with their jobs. However, to unemployed women, the social status of men and women was equal but employed women, rejecting the statement, believed that social status of men was higher than women at their work place. Nevertheless, the social status of employed women was higher than unemployed men. Keywords: Social status, job, marriage, empowerment & workplace

Seroprotection after hepatitis B vaccination in chronic kidney disease patients with modified schedule and dosage. J Infect Dev Ctries

Abstract Background: This study was conducted to determine the efficacy of four doses of 40 µg vaccine in chronic kidney disease patients as compared to the three-dose 20 µg vaccine schedule given to the normal healthy population. Methodology: This study included 130 chronic kidney disease patients. Of these 84 were given 20 µg vaccine (52 patients were given three doses at 0, one and two months, and 32 patients were given four doses at 0, one, two and six months) and 46 patients were given 40 µg vaccine (30 patients were given three doses at 0, one and two months and 16 patients were given four doses at 0, one, two and six months). Patient response was assessed by measuring antibodies to hepatitis B surface antigen (anti HBs) one month after receiving the third and fourth doses each. Results: Of the patient who received three doses of 20 µg vaccine, 57.7% showed seroprotection while 68.7% of the patients who received four doses of this vaccine showed seroprotection. In contrast, 60% of the patients who received three doses of 40 µg vaccine had seroprotective antibody titers while 87.5% of the patients receiving four doses of 40 µg vaccine showed seroprotection. Conclusions: Seroprotection after four doses of 40 µg vaccine at 0, one, two, and six months was found to be better and cost effective in chronic kidney disease patients compared to three doses of 20 µg vaccine given to normal healthy individuals with adequate renal function

Challenges and opportunities in the establishment of a hereditary breast cancer clinic at an academic medical center in a low-middle income country

It is now standard of care to offer genetic testing to patients at risk of hereditary breast cancer and make management decisions based on these results. Although great strides have been made in ensuring access to genetic testing and genetic counseling by establishing hereditary breast cancer clinics in well-resourced countries, these are essentially non-existent in low-middle income countries like Pakistan. We established a hereditary breast cancer clinic involving a multidisciplinary team, including a medical geneticist and a genetic counselor. Our efforts were based on consensus guidelines and included educating medical providers about the importance of genetic testing in breast cancer care and the mandatory presence of a genetics team member at the weekly Breast Tumor Board meeting. This resulted in an increase in the number of referrals of breast cancer patients for genetic testing. In this report, we describe the challenges we faced in setting up such a system in Pakistan and the measures to overcome them. There is a need to establish such hereditary breast cancer clinics, which can also be replicated at other centers in low-resource settings, to improve standardized assessment and management of the patients with hereditary breast cancer according to consensus guideline

eP039: Does Lynch syndrome cause predisposition to breast cancer? Experience from a hereditary breast cancer clinic in Pakistan

Background: Lynch Syndrome (LS), also known as hereditary non-polyposis colorectal cancer syndrome, is an autosomal dominant disorder caused by the presence of germline pathogenic (P) or likely pathogenic (LP) variants in DNA mismatch repair (MMR) genes, which include MLH1, MSH2, MSH6, PMS2, and EPCAM. Presence of a disease-causing variant in any of these MMR genes increases an individual’s lifetime risk of developing colorectal cancer (CRC) (61%), endometrial (57%), ovarian (38%), renal pelvis or ureter (28%), prostate (24%), breast (19%), small bowel (11%), gastric (9%), brain (8%), hepatobiliary cancer (4%) and pancreatic cancer (2%). It is still unclear whether LS causes a predisposition to breast cancer, with current data suggesting a risk \u3c 15%, which is close to the general population risk of 13%. Guidelines for high-risk surveillance and management of individuals with LS are thus not well-established for breast cancer, which at present is to be managed based on family history.Identification of germline disease-causing variants in MMR genes is thus pivotal for optimizing the treatment and surveillance of patients with LS and for the identification of at-risk family members, to reduce cancer-related morbidity and mortality. This is best done using Next Generation Sequencing (NGS) multi-gene panel testing, which increases the diagnostic yield, but also increases the chances of finding variants of uncertain significance (VUS). As the Pakistani population remains under-represented, the likelihood of finding a VUS is high, making it difficult to use these results for clinical decision-making.Objectives:• To study the presence of disease-causing variants as well as VUSs in MMR genes causing LS in a series of patients diagnosed with breast cancer who underwent genetic testing using a multi-gene NGS panel• To study the clinical characteristics of patients with LS who presented with breast cancer• To use immunohistochemistry (IHC) on breast tumour tissue samples to clarify whether VUSs in MMR genes in breast cancer patients are associated with loss of staining.Methods: Retrospective chart review of patients who visited the hereditary cancer (HBC) clinic and proceeded with Hereditary Breast and Gynecological Cancer multi-gene NGS panel testing (at Prevention Genetic and Invitae Genetics, USA) from May 2017 to Oct 2021, at an Academic Medical Centre, Aga Khan University Hospital, Karachi, Pakistan. IHC was performed using standard antibodies against the protein products of MLH1, MSH2, MSH6 and PMS2.Results and Discussion: A total of 460 breast cancer patients qualified and proceeded with testing, considering their personal and/or family history of disease, based on NCCN criteria. 94 patients (20.4%) had a positive genetic test result, which included Pathogenic (P) and Likely Pathogenic (LP) variants. Of the remaining patients, 167 (36.3%) had one or more VUS[s], and 199 (43.3%) had a negative genetic test result.Five out the total 460 patients (1.1%) or five of the 94 patients with positive results (5.3%), tested positive for LS, with an average age at diagnosis of 40 years. One patient had a personal history of colon cancer at age 38 and had then presented with breast cancer at age 43; and had a family history of colon cancer. Another patient who presented with breast cancer only, harbored a pathogenic variant in MSH6 as well as BRCA1, having a positive family history of breast and uterine cancer. In the remaining three patients, personal or family history was not indicative of any possible established link with LS, and their diagnoses would have been missed if MMR genes were not included in the multi-gene panel. Thus, multi-gene testing including MMR genes increased the diagnostic yield by 4.3% (4/94), even after excluding the patient with a personal history of colon cancer. Details of these patients are mentioned in Table 1.Out of the total 460 patients who underwent testing, 28 (6.1%) harbored a VUS in MMR genes, namely PMS2 (n=12), MSH2 (n=7), MSH6 (n=8) and one patient had a VUS in both PMS2 and MSH2. No VUS in MLH1 was identified in breast cancer patients.IHC was done on 18/28 (64.3%) and no loss of staining was observed on any tissue sample, possibly indicating that the variants are not disease-causing. We also observed six recurrent VUSs in unrelated patients, which included, (variant.1) v.1: MSH2 NM_000251.2 (p.L135V) (Rs193096019 MAF in South Asians=0.05%), v.2: MSH6 NM_000179.2 (p.L1356Dfs*4), (rs775836476, MAF in South Asians=0.04%), v.3: MSH6, (p.R911Q), (Rs761622304,MAF in South Asians= 0.006%), v.4: PMS2 NM_000535.5 (p.R294W) (rs563433235, MAF in South Asians= 0.03%), v.5: PMS2 (p.L454S) (absent from population database), v.6: PMS2 (p.D784N) (unreliable region coverage).It is worth noting that, v. 2, 4 and 6 have been reported in diseased individuals, while v.5 is a novel variant, absent from the gnomAD, highlighting the need for further functional studies to understanding the role of these variants in tumorigenesis.Conclusions: In our experience with genetic testing in the HBC, a small proportion of patients were diagnosed with Lynch Syndrome, some presenting with breast cancer alone, without a personal or family history of LS associated tumors. This may justify the need to include MMR genes in multi-gene panels being offered to breast cancer patients. VUSs in these genes remain challenging, especially in underrepresented populations, and IHC may be a way to at least partially clarify their significance. More ethno-specific genomic studies, as well as better functional studies are required provide better clinical care

eP077 - Germline pathogenic variants in Pakistani patients evaluated at a hereditary breast cancer clinic

Background: Breast cancer is the most common malignancy, impacting over 1.5 million women (25% of all women with cancer) every year, accounting for the highest number of cancer-related deaths in women globally. (Sun et al., 2017) (WHO, 2021).Hereditary breast cancer (HBC), an important subset of breast cancer, accounts for 5–10% of total cases. (Sun et al., 2017) These cases are attributed to pathogenic (P) and likely pathogenic (LP) germline variants in genes that have a predisposition for breast cancer. However, in Low Middle-Income Countries (LMICs), the population-specific risk of hereditary breast cancer in different ethnicities and the correlation with clinical characteristics remains unexplored.Objective:• To see the spectrum of variants beyond BRCA1/2 in Pakistani breast cancer patients.• To compare the clinical characteristics of patients who test positive, with patients who have variants of uncertain significance (VUS) and negative results.• To show preliminary population specific data that can guide tailored genetic testing criteria in a resource-limited country.Methods: A retrospective chart review of 284 patients who visited the hereditary breast cancer (HBC) clinic and proceeded with multi-gene panel testing (Invitae Genetics, USA) from May 2017 to April 2020. Descriptive and inferential statistics are used to analyze clinical characteristics of patients with positive results, comparing with patients with VUS and negative test results. Fisher’s exact, Pearson’s chi-squared tests and Logistic regression analysis were used for categorical variables and Wilcoxon rank-sum test for quantitative variables were used. For comparation between two independent groups, Mann-Whitney test was performed. Results were considered significant at a p value of \u3c0.05.Results and Discussion: Positive results included results for patients with pathogenic and likely pathogenic variants. Out of 284 patients, 22% (63/284) tested positive, 37% (104/284) had a VUS and 41% (117/ 284) had a negative result. Fifty-five percent of the positive patients were in either BRCA1 or BRCA2, while the other 45% of the positive results were attributed to other genes. The spectrum of the identified variants is summarized in Table 1. Patients with positive results had a younger age at diagnosis compared with those who had a VUS or a negative result; mean age (in years) = 38, IQR (32–48) vs 45, (37–51) vs 44 (38–50), (p value = 0.002). 73% of the positive results were found in patients under the age of 44. Having a positive result showed a positive association with triple negative breast cancer (TNBC) as well as higher disease grade (p = 0.024), using multi-variate analysis. Patients with TNBC were almost 3 times more likely to harbor a P or LP variant (OR = 2.8, CI = 1.42–5.48 p = 0.003). Of the patients who tested positive for BRCA1 or BRCA2, 67% had a diagnosis of TNBC. Of all patients with positive results, 25% of patients had a negative family history of breast and/or related cancers. The likelihood of the genetic test being positive was two times higher if there was a family history of cancer, as compared to no family history of cancer (OR = 2.13, Cl = 1.12–4.08, p = 0.021).Conclusion: In our HBC clinic, we observed that our rate of positive results was twice of what is reported in populations of Caucasian descent. This could either be due to referral bias, or a true higher rate of hereditary breast cancer in our population. The importance of expanded, multi-gene panel testing is highlighted by the fact that almost half of the patients had P or LP variants in genes other than BRCA1/2, and that our test positivity rate would have only been 10% if only BRCA1/2 testing was done. Consistent with data from other countries, we also found that in our population, having TNBC or a young age at diagnosis increased the likelihood of a positive result. Up to a quarter of patients with positive result had a negative family history. As the database expands and protocol-driven referrals are made across the country, our insight about the genetic architecture of hereditary breast cancer in our population will continue to increase

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan

Background: Breast cancer is the most common malignancy in women, affecting over 1.5 million women every year, which accounts for the highest number of cancer-related deaths in women globally. Hereditary breast cancer (HBC), an important subset of breast cancer, accounts for 5-10% of total cases. However, in Low Middle-Income Countries (LMICs), the population-specific risk of HBC in different ethnicities and the correlation with certain clinical characteristics remain unexplored.Methods: Retrospective chart review of patients who visited the HBC clinic and proceeded with multi-gene panel testing from May 2017 to April 2020. Descriptive and inferential statistics were used to analyze clinical characteristics of patients. Fisher\u27s exact, Pearson\u27s chi-squared tests and Logistic regression analysis were used for categorical variables and Wilcoxon rank-sum test were used for quantitative variables. For comparison between two independent groups, Mann-Whitney test was performed. Results were considered significant at a p value of \u3c 0.05.Results: Out of 273 patients, 22% tested positive, 37% had a VUS and 41% had a negative genetic test result. Fifty-five percent of the positive patients had pathogenic variants in either BRCA1 or BRCA2, while the remaining positive results were attributed to other genes. Patients with a positive result had a younger age at diagnosis compared to those having a VUS and a negative result; median age 37.5 years, IQR (Interquartile range) (31.5-48). Additionally, patients with triple negative breast cancer (TNBC) were almost 3 times more likely to have a positive result (OR = 2.79, CI = 1.42-5.48 p = 0.003). Of all patients with positive results, 25% of patients had a negative family history of breast and/or related cancers.Conclusions: In our HBC clinic, we observed that our rate of positive results is comparable, yet at the higher end of the range which is reported in other populations. The importance of expanded, multi-gene panel testing is highlighted by the fact that almost half of the patients had pathogenic or likely pathogenic variants in genes other than BRCA1/2, and that our test positivity rate would have only been 12.8% if only BRCA1/2 testing was done. As the database expands and protocol-driven referrals are made across the country, our insight about the genetic architecture of HBC in our population will continue to increase