Developing knowledge, attitude and practice questionnaire in desmoid tumours (KAPID study): applying e-Delphi to rare diseases.

Background: Rare diseases are associated with unique challenges encountered in diagnosis, treatment and conduct of clinical research. Desmoid tumour (DT) is one such ultra-rare malignancy about which awareness among medical professionals remains limited. We developed a questionnaire to assess knowledge, attitude and practice (KAP) among medical professionals on DT. Methods: E-Delphi method was used for the assessment of KAP for DT amongst clinical experts (experience of >/= 3 years in DT). 22 open-ended statements were developed by the core research group using current consensus guidelines. In round 1, experts provided subjective feedback which was incorporated into a 35-item questionnaire. Round 2 entailed experts giving feedback as a 5-point Likert scale classified into agreement (median score >/=4), neutral (median score 3) and disagreement (median score <3). Feedback from Round 2 was incorporated and questions with neutral consensus were modified. Questions in Round 3 achieved consensus if >/= 75% participants agreed. Results: 11 (64.7%) of 17 contacted experts responded in Round 1 including 6 (54.4%) who gave additional inputs and 5 (45.6%) who agreed to all statements. In round 2, 8 out of 11 experts responded to the 35-item questionnaire on knowledge (n = 16), attitude (n = 8) and practice (n = 11). 32 questions obtained agreement and 3 (8.5%) had neutral consensus. These were modified for round 3, in which consensus on 2 (66.6%) was attained. The final questionnaire comprises 34 items with 15, 8 and 11 questions on in the sections of knowledge, attitude and practice (KAP), respectively.

Unravelling the therapeutic potential of forkhead box proteins in breast cancer: An update (Review).

Breast cancer, a prominent cause of mortality among women, develops from abnormal growth of breast tissue, thereby rendering it one of the most commonly detected cancers in the female population. Although numerous treatment strategies are available for breast cancer, discordance in terms of effective treatment and response still exists. Recently, the potential of signaling pathways and transcription factors has gained substantial attention in the cancer community; therefore, understanding their role will assist researchers in comprehending the onset and advancement of breast cancer. Forkhead box (FOX) proteins, which are important transcription factors, are considered crucial regulators of various cellular activities, including cell division and proliferation. The present study explored several subclasses of FOX proteins and their possible role in breast carcinogenesis, followed by the interaction between microRNA (miRNA) and FOX proteins. This interaction is implicated in promoting cell infiltration into surrounding tissues, ultimately leading to metastasis. The various roles that FOX proteins play in breast cancer development, their intricate relationships with miRNA, and their involvement in therapeutic resistance highlight the complexity of breast cancer dynamics. Therefore, recognizing the progress and challenges in current treatments is crucial because, despite advancements, persistent disparities in treatment effectiveness underscore the need for ongoing research, with future studies emphasizing the necessity for targeted strategies that account for the multifaceted aspects of breast cancer.

Developmental events in the mandibular salivary gland of Indian sheep (Ovis aries): Morphological and histochemical studies.

At 22nd day of fetal development, the primordial anlage of mandibular gland was first noticed as a solid epithelial bud from oral epithelium. The terminal buds were arranged in the form of clusters with undifferentiated epithelial cells and terminated in a bulb like structure in 28-day-old fetus. The lumenization and branching of the main cord was noticed at 35th day. The primary septa, which divide the glandular mass into lobes was observed from 53rd day onwards which resulted in the formation of distinct lobulation at 58th day. At 61st day, the capsule formation was initiated by the aggregation of mesenchymal tissue. The terminal tubules differentiated to form the secretory end pieces and the tubular portion leads to the formation of intercalated and striated ducts at 98th day. Predominantly mucous types of acinar cells were seen from 108th day onwards. The number of lobules increased with steep increase in parenchyma from 128th day onwards. Micrometrical studies revealed that the mean diameter of acinar cells and all ducts was increased with the advancement of age and the significant differences were observed between groups. Localization of acidic and neutral mucopolysaccharides was observed in mucous cells and goblet cells. RESEARCH HIGHLIGHTS: The primordial anlage of mandibular salivary gland was seen at 22nd day. Lobulation of gland was appeared at 53rd day of development, however; it was completed at 58th day. At 98th day, the terminal tubules differentiated to form the secretory end pieces. The parenchyma of the gland showed predominantly mucous type of cells from 108th day onwards. Myoepithelial cells were first appeared as flattened basal cells initially around the developing acinar cells at 132nd day. Localization of acidic as well as neutral mucopolysaccharides was observed in mucous cells and goblet cells. Fine lipid droplets were observed in intralobular as well as interlobular connective tissue, however; phospholipids were observed in the cell membrane of secretory cells and ducts.

Postoperative complications after surgery for lumbar spinal stenosis, assessment using two different data sources.

PURPOSE: Lumbar spinal stenosis (LSS) is a prevalent disorder, and surgery for LSS is a common procedure. Postoperative complications occur after any surgery and impose costs for society and costs and additional morbidity for patients. Since complications are relatively rare, medical registries of large populations may provide valuable knowledge. However, recording of complications in registries can be incomplete. To better estimate the true prevalence of complications after LSS surgery, we reviewed two different sources of data and recorded complications for a sample of Norwegian LSS patients. METHODS: 474 patients treated surgically for LSS during 2015 and 2016 at four hospitals reported to a national spine registry (NORspine). Postoperative complications were recorded by patients in NORspine, and we cross-referenced complications documented in NORspine with the patients´ electronic patient records (EPR) to re-test the complication rates. We performed descriptive statistics of complication rates using the two different data sources above, and analyzed the association between postoperative complications and clinical outcome with logistic regression. RESULTS: The mean (95%CI) patient age was 66.3 (65.3-67.2) years, and 254 (53.6%) were females. All patients were treated with decompression, and 51 (10.7%) received an additional fusion during the index surgery. Combining the two data sources, we found a total rate for postoperative complications of 22.4%, the NORspine registry reported a complication rate of 15.6%, and the EPR review resulted in a complication rate of 16.0%. However, the types of complications were inconsistent across the two data sources. According to NORspine, the frequency of reoperation within 90 days was 0.9% and according to EPR 3.4%. The rates of wound infection were for NORspine 3.1% and EPR review 2.1%. There was no association between postoperative complication and patient reported outcome. CONCLUSION: Postoperative complications occurred in 22% of LSS patients. The frequency of different postoperative complications differed between the two data sources.

Health-related quality of life, psychological issues and concerns among sarcoma survivors: a mixed method study.

Purpose: We aimed to explore the health-related quality of life (HRQoL), psychological issues and concerns among sarcoma survivors in India and assess their satisfaction with nursing care. Methods: This study employed a sequential mixed-methods design, enrolling 100 sarcoma survivors from July to December 2021, with data collected using standardised questionnaires for HRQoL, depression, anxiety, stress, cognitive impairment and self-structured satisfaction with nursing care. Qualitative data were gathered through focused group discussions. Results: The mean global health score among sarcoma survivors was 79.48 ± 16.26. A significant number of survivors had symptoms of mild-to-moderate depression (30%), severe anxiety (12%), stress (16%) and mild cognitive impairment (5%). Significant mean rank differences were observed between anxiety and financial difficulty (p < 0.05), emotional functioning (p < 0.001), cognitive functioning (p < 0.001), pain (<0.05), insomnia (p < 0.001), fatigue (p < 0.001), anorexia (p < 0.05) and nausea/vomiting (p < 0.001). Educational qualification had a significant association with depression and anxiety while family history of cancer emerged as a significant factor associated with anxiety and stress among survivors. Qualitative analysis revealed themes related to body image, societal discrimination, socio-economic impact, marriage concerns and fertility issues. Survivor satisfaction with nursing care was good. Conclusion: A substantial number of sarcoma survivors had an average HRQoL and experienced depression, anxiety and stress. Our study emphasizes the importance of holistic survivorship care, involving nurses in post-treatment support, and addressing societal discrimination and psychosocial concerns to enhance their quality of life. Implications for cancer survivors: Our study calls for a holistic approach to sarcoma survivor care and emphasizes the importance of personalised survivorship care plans led by nurses to address the diverse needs of sarcoma survivors in India. Such plans should encompass strategies for managing depression, anxiety and stress, along with addressing body image concerns and social support.

Histomorphogenesis of sublingual salivary gland of Indian sheep.

The primordial anlage of sublingual gland was first noticed as a solid epithelial bud from oral epithelium at the 24th day of foetal development. The terminal buds were arranged in the form of clusters with undifferentiated epithelial cells and terminated in a bulb-like structure in the 30-day-old sheep foetus. On the 37th day, lumenization and branching of the main cord was noticed. The primary septa were observed from the 55th day onwards which resulted in the formation of lobulation on the 60th day. The capsule formation was initiated by aggregation of mesenchymal tissue on the 63rd day. On the 100th day, terminal tubules differentiated to form secretory end pieces. Tubular portions formed intercalated and striated ducts. Predominantly mucous type of acinar cells was seen from the 110th day onwards with myoepithelial cells. The number of lobules increased with increase in parenchyma from 130th day onwards. Micrometrical studies revealed that the mean diameter of acini, intercalated, striated and large ducts was increased with advancement of age and significant differences were observed between groups. Localization of acidic and neutral mucopolysaccharides were observed in mucous and goblet cells. Fine lipid droplets were observed in intralobular and interlobular connective tissue however, phospholipids were observed in cell membrane of acini and ducts. The current investigation provides microstructural standards for the organogenesis of the sublingual gland of miniature sheep and can lay the foundation for further studies in the morphological investigation of salivary gland development.

Patient-reported cognitive impairments and objective neuropsychological deficits in young sarcoma patients undergoing chemotherapy and its comparison to healthy controls: A tertiary health care study from India.

The study aims to investigate the patient-reported cognitive deficits and objective neuropsychological functions in younger adult (YA) sarcoma patients (16-40 years of age). Ninety patients and 30 age-matched healthy controls from a single tertiary healthcare hospital, were recruited into four groups: Pre-chemotherapy (Pre Cx), During chemotherapy (During Cx), Post-chemotherapy (Post Cx) and Controls. Neurocognitive functions were assessed subjectively using FACT-Cog v3 questionnaire; objectively using ACE-III and neuropsychological tests (NPT). FACT-Cog scores of During Cx (P = .041) and Post Cx (P = .008) groups were significantly lower than Pre Cx group. ACE-III scores of During Cx (P = .048) and Post Cx (P = .043) groups were lower as compared to Pre Cx group. In addition, reaction times and accuracies of the NPT (Flanker's, Sternberg's and Emotional Stroop tests) were worse (P < .05) in During Cx and Post Cx groups as compared to either Pre Cx or control groups. In the Post Cx group, the dose of chemotherapy showed significant negative correlation with the Sternberg reaction time (P = .040) as well as the scores of language (P = .047), and attention (P = .044) domains of ACE-III. Observations demonstrate that cancer/chemotherapy-related neurocognitive deficits fail to improve even after cessation of treatment, and high dosage of chemotherapy used, could be an underlying factor. This emphasizes the need for developing 'model of care' in these patients for monitoring the side effects, and possible titration in the therapeutic regimen for sarcoma in YA.

Role of Fine Needle Aspiration Cytology in the Rapid Diagnosis of Pulmonary Infections in Renal Allograft Recipients with Respiratory Failure.

Background: Renal transplantation is the treatment of choice in patients with end-stage renal disease. However, allograft recipients are at a higher risk of infection due to immunosuppressive therapies. This study aimed to analyze the utility of fine needle aspiration cytology (FNAC) lung in the etiological diagnosis of pulmonary infections in renal allograft recipients with respiratory failure. Materials and Methods: This is a retrospective study done in post-renal transplant patients presenting with pulmonary infections and respiratory failure in the past 7 years, in whom image-guided lung FNAC was done for diagnosis. Results: A total of 35 renal allograft recipients presenting with respiratory failure and having focal or diffuse pulmonary opacities (lesions) on radiological imaging were subjected to lung FNAC. The mean age of the patients was 41.1 ± 11.8 years (range 19-72), with the majority being males (n = 28, 80%); six (17.1%) of them were on invasive ventilation. The diagnostic yield of FNAC in our cohort was 77.1% (27 out of 35). Microorganisms were isolated in 21 cases (60%), with Nocardia being the most common (nine cases, 25.7%), Mycobacterial tuberculosis identified in six patients (17.1%), Aspergillus in three (8.6%), and one (2.9%) each had atypical Mycobacterium, zygomycetes, and Cryptococcus. FNAC suggested viral cytopathic effect in five patients, and cytomegalovirus (CMV) quantitative polymerase chain reaction test was found positive in four of these. One case was diagnosed as adenocarcinoma lung. Conclusion: Lung FNAC is a useful for establishing the etiological diagnosis of pulmonary lesions in renal transplant patients with respiratory failure.

Exploring Circulating Tumor DNA (CtDNA) and Its Role in Early Detection of Cancer: A Systematic Review.

There is a significant increase in the need for an efficient screening method that might identify cancer at an early stage and could improve patients' long-term survival due to the continued rise in cancer incidence and associated mortality. One such effort involved using circulating tumor DNA (ctDNA) as a rescue agent for a non-invasive blood test that may identify many tumors. A tumor marker called ctDNA is created by cells with the same DNA alterations. Due to its shorter half-life, it may be useful for both early cancer detection and real-time monitoring of tumor development, therapeutic response, and tumor outcomes. We obtained 156 papers from PUBMED using the MeSH approach in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) criteria and ten articles from additional online resources. After removing articles with irrelevant titles and screening the abstract and full text of the articles that contained information unrelated to or not specific to the title query using inclusion and exclusion criteria, 18 out of 166 articles were chosen for the quality check. Fourteen medium to high-quality papers were chosen out of the 18 publications to be included in the study design. The reviewed literature showed no significant utility of ctDNA in detecting early-stage tumors of size less than 1 cm diameter. Still, the ideal screening test would require the assay to detect a size <5 mm tumor, which is nearly impossible with the current data. The sensitivity and specificity of the assay ranged from 69% to 98% and 99%, respectively. Furthermore, CancerSEEK achieves tumor origin localization in 83% of cases, while targeted error correction sequencing (TEC-Seq) assays demonstrate a cancer detection rate ranging from 59% to 71%, depending on the type of cancer. However, it could be of great value as a prognostic indicator, and the levels are associated with progression-free survival (PFS) and overall survival (OS) rates, wherein the positive detection of ctDNA is associated with worse OS compared to the tumors detected through standard procedures, with an odds ratio (OS) of 4.83. We conclude that ctDNA could be better applied in cancer patients for prognosis, disease progression monitoring, and treatment outcomes compared to its use in early cancer detection. Due to its specific feature of recognizing the tumor-related mutations, it could be implemented as a supplemental tool to assess the nature of the tumor, grade, and size of the tumor and for predicting the outcomes by pre-operative and post-operative evaluation of the tumor marker, ctDNA, and thereby estimating PFS and OS depending on the level of marker present. A vast amount of research is required in early detection to determine the sensitivity, specificity, false positive rates, and false negative rates in evaluating its true potential as a screening tool. Even if the test could detect the mutations, an extensive workup for the search of tumor is required as the assay could only detect but cannot localize the disease. Establishing the clinical validity and utility of ctDNA is imperative for its implementation in future clinical practice.

A qualitative study to assess the psychological experiences and coping strategies of families affected with Li-Fraumeni syndrome in the Indian population.

Background: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome. Due to the high risk of occurrence of multiple cancers, families with LFS may have an overwhelming psychosocial burden. Methods: This cross-sectional study was conducted at a tertiary care center using face-to-face interviews through a grounded theory approach. Statistical analysis was done using Smith's Interpretative Phenomenological Approach. Themes and sub-themes were extracted, and a thematic schema was developed. Results: A total of five themes were identified. The extracted themes were psychological experiences, behavioural responses, stressors, coping strategies and perceived needs. The interlay of the themes deepened the impact of LFS on the affected ones and brought into light the turmoil of emotions and difficulties that these individuals were going through in the face of the disease. Conclusions: LFS-affected individuals had a range of experiences with this rare and little-known disease. The lack of information seems to be a precursor to the denial of diagnosis. Their experience with the illness sheds light on the grey areas like guilt and helplessness that demand immediate attention. Future policies need to be developed in accordance with the identified perceived needs to potentially guide the treatment and rising needs of LFS-affected individuals.