Discordance of estrogen and progesterone receptors after neoadjuvant chemotherapy in locally advanced breast cancer.

Aims and Objective: This study aimed to compare hormone receptor (HR) status before and after neoadjuvant chemotherapy that is discordance in locally advanced breast cancer patients, which are amenable for surgery. The secondary objective was to study the correlation between tumor response and HR expression. Materials and Methods: The duration of the study was from August 2018 to December 2020. A total of 23 patients were selected as per certain inclusion criteria. American Society of Clinical Oncologys methodology was used to analyze estrogen receptor (ER) and progesterone receptor (PR) status of histopathology specimen. For study purposes, patients were classified into four groups after core biopsy of breast lump and after definitive surgery (post-NACT (neoadjuvant chemotherapy)) - Group A (ER+, PR+), Group B (ER+, PR-), Group C (ER-, PR+), and Group D (ER-, PR-). Results: ER discordance was found to be (2/23) 8.69% (P value 0.76). PR discordance was (4/23) 17.39%. PR discordance was found to be higher than ER discordance. Changes in staining patterns in ERs were seen in 14 patients (93.33%). Changes in staining percentage in PRs were seen in eight patients (80%). It was found that both receptor-positive and negative diseases had an equal proportion of stable disease. Conclusion: From the study, it is noted that performing ER PR study twice (before and after chemotherapy) is necessary as discordance is noted and this may impact the further treatment strategy.

Public perceptions of predictive testing for rheumatoid arthritis compared to breast cancer and early-onset Alzheimer's disease: a qualitative study.

BACKGROUND: There is increasing research focus on prediction and prevention of rheumatoid arthritis (RA). Information about risk of RA is increasingly available via direct-to-consumer testing. However, there is limited understanding of public perceptions around predictive testing for RA. This study explores public perceptions of predictive testing for RA in comparison to breast cancer (BC) and early-onset Alzheimer's disease (AD). METHODS: Four focus groups with 21 members of the public were conducted using hypothetical vignettes about predictive testing for each disease. Transcripts of focus group proceedings were analysed inductively using thematic analysis. RESULTS: Thematic analysis of the data produced three key themes: decision-making factors, consequences, and consumer needs. Factors suggested that might influence decision-making about predictive testing included family history, fear, and perceived severity and treatability of the illness. RA was perceived to be less severe and more treatable than BC/AD. Potential consequences of predictive testing across all diseases included lifestyle modification, planning for the future and discrimination by employers or insurers. Predictive testing for RA was perceived to have less potential for negative psychological consequences than other diseases. Participants highlighted that individuals undertaking predictive testing should be signposted to appropriate support services and receive information on the accuracy of predictive testing. It was suggested that strategies to mitigate concerns regarding communication and confidentiality of risk results are required. CONCLUSIONS: The findings of this study reflect public misunderstandings regarding RA that may impact the uptake of and responses to predictive testing, and key informational needs of individuals considering a predictive test. Predictive strategies should be accompanied by awareness-raising initiatives and informational resources.

Effectiveness of school-based interventions to prevent obesity among children aged 4 to 12 years old in middle-income countries: A systematic review and meta-analysis.

Economic and accompanying nutrition transition in middle-income countries is resulting in rapidly increasing childhood obesity prevalence, exceeding acceleration rates in the West. Previous school-based obesity prevention reviews have mainly included studies from high-income countries. This review aimed to summarize the evidence from randomized controlled trials evaluating the effectiveness of school-based interventions in preventing childhood obesity in middle-income countries. Six electronic databases were searched: MEDLINE, EMBASE, CINAHL Plus, LILACS, IBECS and WPRIM. Eligibility criteria included middle-income country setting, randomized/cluster-randomized controlled trials, children aged 4-12 years and school-based interventions targeting dietary intake and/or physical activity. Twenty-one cluster-randomized controlled trials, conducted in Asia (n = 10), South America (n = 4), North America (n = 4) and the Middle East (n = 3), were included. Fifteen studies reported a significant intervention effect on at least one adiposity-related outcome. Characteristics of effective interventions included combined diet and PA interventions, school teacher-delivery, duration of >8 months, parental involvement, education sessions and school food modifications. The risk of bias in these trials was mixed. The pooled estimate of the odds ratio for obesity in intervention versus control schools (nine studies) was 0.77; 95% CI, 0.63 to 0.94; p = 0.009. In conclusion, there is some evidence to support school-based interventions in preventing childhood obesity in middle-income countries.

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).

We report a further case of spondylometaphyseal dysplasia - corner fracture type due to the fibronectin-1 gene (SMD-FN1) in a child originally thought to have metaphyseal chondrodysplasia-Brussels type (MCD Brussels). We highlight phenotypic differences with the SMD-FN1 published reports. This case is unique in terms of the method of molecular confirmation. Findings from the 100 000 Genomes Project were originally negative (in both tier 1 and 2); however, subsequent reanalysis, initiated by an automated search for new gene-disease associations in PanelApp, highlighted a candidate diagnostic variant. Our child had short stature, facial dysmorphism, spondylometaphyseal dysplasia and corner fractures and a heterozygous de novo missense variant in FN1 (c.675C>G p.(Cys225Trp), which was likely pathogenic. The variant matched the clinical and radiological features and a diagnosis of SMD-FN1 was confirmed. We explore the diagnostic journey of this patient, compare her findings with the previous 15 patients reported with SMD-FN1 and discuss the diagnostic utility of automated reanalysis. We consider differences and similarities between MCD Brussels and SMD-FN1, by reviewing literature on both conditions and assess whether they are in fact the same disorder.

Outcomes of Cochlear Implantation in Patients with Post-Meningitis Deafness: A Systematic Review and Narrative Synthesis.

Summarise outcomes following cochlear implantation (CI) in patients with post-meningitis deafness. Systematic review and narrative synthesis. Databases searched: Medline, Pubmed, Embase, Web of Science, Cochrane Collection and ClinicalTrials.gov. No limits placed on language or year of publication. Studies with a minimum of 20 individuals with post-meningitis deafness were included. Review conducted in accordance with the PRISMA statement. Searches identified 906 abstracts and 291 full texts. Of these, 19 studies met the inclusion criteria, reporting outcomes in 610 patients with 650 implants. Audiological outcomes improved across all studies following cochlear implantation. 7 studies demonstrated a statistically significant difference between pre and post-CI outcomes. Patients with no cochlear ossification, full electrode insertion, shorter duration of deafness and no neurological sequelae generally appeared to perform best. A total of 31 minor and 19 major complications were reported, with 15 cases of reimplantation. The methodological quality of the included studies was sufficient, predominantly consisting of cohort studies. 15 studies were OCEBM grade III and 4 studies were OCEBM grade IV. All studies had a minimum of 20 individuals with post-meningitic deafness and used multi-channel cochlear implant devices. Audiological outcomes following cochlear implantation in meningitis are satisfactory, providing functional levels of speech perception and intelligibility. Improvement in hearing is dependent on the amount of cochlear ossification, duration of deafness prior to implantation, electrode insertion depth and presence of neurological sequalae. Cochlear implantation in meningitis patients can be challenging due to the presence of ossification and inaccuracies of pre-operative imaging. Therefore, early and bilateral implantation is recommended in all patients with post-meningitis hearing loss to improve the likelihood of full electrode insertion.

Primary ovarian serous adenocarcinoma with ipsilateral axillary lymph node metastasis: a case report.

Axillary lymph node metastasis from primary ovarian cancer is rare. Here, we reporting a unique case of 45 years old who presented with axillary lymph node metastasis which was thought from breast carcinoma but it turned out to be due to ovarian serous adenocarcinoma confirmed by histopathology & immunohistochemistry. Staging laparotomy (IIIc) with hysterectomy with bilateral salpingo-oophorectomy was done. Post-operatively, the patient was given adjuvant chemotherapy. No local or systemic recurrence was noted during 1 year follow up period.