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Byline: P. Sakthivel, D. K Irugu, C. Singh, H. Verma, R. Yogal, B. Jat, A. Chadran, K. Sikka, A. Thakar, S. Sharma CONTEXT: To evaluate the quality of life (QOL) [...]

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant familial cancer syndrome caused by germline mutations of the tumor protein p53 gene (TP53), which encodes the p53 transcription factor, also known as the "guardian of the genome." The most common types of cancer found in families with LFS include sarcomas, leukemia, breast malignancies, brain tumors, and adrenocortical cancers. Osteosarcoma and rhabdomyosarcoma are the most common sarcomas. Patients with LFS are at increased risk of developing early-onset gastric and colon cancers. They are also at increased risk for several other cancers involving the thyroid, lungs, ovaries, and skin. The lifetime risk of cancer in individuals with LFS is greater than 70% in males and greater than 90% in females. Some patients with LFS develop multiple primary cancers during their lifetime, and guidelines have been established for screening these patients. Whole-body MRI is the preferred modality for annual screening of these patients. The management guidelines for patients with LFS vary, as these individuals are more susceptible to developing radiation-induced cancers-for example, women with LFS and breast cancer are treated with total mastectomy instead of lumpectomy with radiation to the breast. The authors review the role of imaging, imaging guidelines, and imaging features of tumors in the setting of LFS. © RSNA, 2024 Supplemental material is available for this article.

The first cluster of cases of COVID-19 pneumonia was reported on December 31, 2019. Since then, this disease has spread rapidly across the world, and as of September 17, 2021, there are 226,844,344 cases of COVID-19 worldwide with 4,666,334 deaths related to COVID-19. While most COVID-19 cases are mild, some cases are severe with patients developing acute respiratory distress syndrome (ARDS). The pathophysiology of ARDS includes damage to the alveolar epithelium that leads to increased permeability of the alveolar epithelial barrier causing hyaline membrane formation, interstitial edema, and alveolar edema that results in severe hypoxia. Patients with COVID-19 ARDS are supported by non-invasive or invasive mechanical ventilation with an aim to improve oxygenation and maintain adequate blood oxygen levels. Increased intra-alveolar pressure while on mechanical ventilation may lead to alveolar rupture and thus barotrauma-related injuries such as lung tension cysts, pulmonary interstitial emphysema (PIE), pneumomediastinum, pneumopericardium, and pneumothorax. Recent studies have shown that the rate of barotrauma-related events is higher in patients with COVID-19 ARDS compared to patients with ARDS secondary to other etiologies. Radiologists should be aware of the imaging features of COVID-19 ARDS as well as the complications of mechanical ventilation. This educational manuscript will review the features of COVID-19 ARDS, discuss imaging of patients on mechanical ventilation, and review the imaging features of complications related to mechanical ventilation, including ventilator-associated lung injuries., (© 2021. American Society of Emergency Radiology.)

Objective: Pediatric tracheostomy is a challenge in otolaryngology practice and it is associated with greater morbidity and mortality than in adults; hence, constant vigilance by the designated family caregiver is critical. This study was designed to assess the impact of on quality of life of caregivers in a homecare setting as a result of the presence of child with a tracheostomy., Methods: This was a combined retrospective and prospective cohort study with caregivers of children younger than 16 years who had undergone a tracheostomy, had been discharged home with a tracheostomy tube and completed 6 months of domiciliary tracheostomy care. The consenting primary caregivers were assessed for their quality of life based on the PedsQL v 4.0 questionnaires across various domains., Results: We identified the primary caregivers of 85 children who had undergone a tracheostomy during the study period. The children's median age was 3.5 years (range, 9 months to 14 years). The mean caregiver health-related quality of life (HRQOL) score was 59.3, the mean family functioning score was 62.8, and the mean total family impact score was 54.7 with relative deficits seen in caregiver's social functioning (56.9) and emotional functioning (53.2). Good or average quality of physical and social function was seen among 74 % and 65 % of caregivers respectively while only 55 % were reported having good or average emotional function. Emotional disturbance, interfering with everyday family activities, and sleep disturbance were the major concerns among caregivers., Conclusion: The biopsychosocial consequences of caring for a child with a tracheostomy are profound for the family, affecting the quality of life of caregivers and adding to the emotional and social burden of the child's family., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Objective: Recurrent respiratory papillomatosis (RRP) is known for its recurrent relapse despite various surgical and non-surgical treatments. Vascular Endothelial growth factor (VEGF) receptor expression on tissue is reported to be raised in RRP, and anti-VEGF targeted treatment is being explored to decrease recurrences. This study aims to identify the patients most suitable for systemic anti-VEGF therapy., Methods: The study design was a prospective cohort evaluation. The study group included all consecutive cases of RP treated surgically from November 2016-June 2019. Tissue receptor expression and serum levels of VEGF were assessed by immunohistochemistry and ELISA assay. Control samples for normal levels obtained by serum samples of healthy individuals and tissue samples obtained from healthy non-inflamed peripheral tissue of laryngectomy specimens. The tissue expression and serum levels of VEGF were compared with various disease-related factors of RP., Results: 32 cases of RRPs were included in the study with a median age of 20.85 years (range: 3-60 years). The glottis was involved in all patients and tracheobronchial involvement was seen among 6 patients (18.75%). The systemic and tissue expression of VEGF-A was significantly higher among cases than controls (p= <0.001). The serum level of VEGF-A was significantly higher among cases with higher Derkay's score (>20) (p = 0.02) and tissue expression of VEGF-A was significantly higher in tracheobronchial RRP (p = 0.04)., Conclusion: Patients of RP with tracheobronchial involvement and high Derkay's score with strong tissue receptor expression & high serum level of VEGF can be identified as the patients wherein anti-VEGF monoclonal antibody treatment is more likely to be effective and merits further investigation to prove this., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Background: Serum otolin-1 is an inner ear protein exclusively expressed in otoconia and cells of vestibule and cochlea. Serum otolin-1 is found to be quantifiable in patients with BPPV. Low Vitamin-D is associated with pathogenesis of BPPV. Since otoconia degeneration contributes to BPPV, lack of Vitamin-D may impact otoconia structure and integrity., Objective: We aimed at studying the s.otolin-1 as biomarker and significance of vit-D in BPPV., Material and Method: 23 patients in test and control groups respectively were chosen within the age of 20 to 65 years. All the patients were diagnosed using Dix Hallpike menouver and head roll test, patients were treated with appropriate Canal Reposition Menouver (CRM)., Results: Serum Otolin-1 levels among the test ranged from 366 to 882 pg/mL with mean of 585.17 pg/mL whereas in control group ranged from 223 to 462 pg/mL with mean of 335.26 pg/mL. Mean Vitamin-D levels among the test group was 22.67 ng/mL (Range = 6.3-68.4) and that of control 15.43 pg/mL (Range = 5.4-27.7) respectively. The relationship between the serum Otolin-1 and Vitamin-D was not statistically significant., Conclusion: Otolin-1 levels is increased in BPPV patients and is sensitive in BPPV, specificity needs to be validated. Role of vitamin-D with respect to inner ear proteins needs further investigation.

Summary: Inflammatory myofibroblastic tumours (IMTs) are rare and clinically benign in childhood, and malignant in adults. The aetiology of IMTs is not clear, and recent studies report it as true neoplasm rather than a reactive or inflammatory lesion. IMTs can involve any part of the body, but are usually common in lungs. These are rarely seen in adults and tracheal involvement is also rare in both adults and children. We describe an 18-year-old woman who presented with respiratory difficulty to the emergency department. On clinical examination, the patient had complete absence of breath sounds on the right side of the chest. CT of the chest and virtual bronchoscopy revealed a polypoidal soft tissue mass lesion involving the carina with occlusion of right main bronchus. Endoscopic-assisted resection was performed under general anaesthesia and the final pathological diagnosis was tracheal IMT., (Copyright © 2018 Società Italiana di Otorinolaringologia e Chirurgia Cervico-Facciale, Rome, Italy.)