Li-Fraumeni Syndrome: Imaging Features and Guidelines.

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.

Normal Serum Levels of Otolin-1 in Patients with Meniere Disease in Remission

Abstract Introduction Degenerative changes in the otolithic organs have been theorized to be caused by the mechanical obstruction to endolymphatic flow, possibly resulting in endolymphatic hydrops (ELH). Otolin-1 is an otoconial matrix protein that crosses the blood labyrinth barrier and has been found in the serum of healthy and diseased patients. Objective To measure the serum levels of Otolin-1 in Meniere disease (MD) patients and compared them with the healthy individuals. Methods This pilot, cross-sectional study was performed at our tertiary care referral center to compare the serum Otolin-1 levels of healthy individuals with those of MD patients. The blood samples were obtained during patients' visit to the vertigo clinic following remission of an acute episode. The data was analyzed using the Stata/SE version 12.0 (StataCorp. College Station, TX, USA). Comparison between the serum Otolin-1 levels in the two groups was performed using the unpaired t-test. A p-value of 0.05 was considered to be statistically significant. Results The participants were divided into two groups, with 31 MD patients, and 30 age and gender-matched members of the control group. The serum levels of Otolin-1 in MD patients (247.6, ± 44.2 pg/ml) were not found to be significantly different from those of the control group (236.2, ± 43.5 pg/ml) (p = 0.31). Conclusion The current study reveals that the serum levels of Otolin-1 are not significantly different between the patients with MD in the interictal phase and the control group's healthy ones.

Normal Serum Levels of Otolin-1 in Patients with Meniere Disease in Remission.

Introduction Degenerative changes in the otolithic organs have been theorized to be caused by the mechanical obstruction to endolymphatic flow, possibly resulting in endolymphatic hydrops (ELH). Otolin-1 is an otoconial matrix protein that crosses the blood labyrinth barrier and has been found in the serum of healthy and diseased patients. Objective To measure the serum levels of Otolin-1 in Meniere disease (MD) patients and compared them with the healthy individuals. Methods This pilot, cross-sectional study was performed at our tertiary care referral center to compare the serum Otolin-1 levels of healthy individuals with those of MD patients. The blood samples were obtained during patients' visit to the vertigo clinic following remission of an acute episode. The data was analyzed using the Stata/SE version 12.0 (StataCorp. College Station, TX, USA). Comparison between the serum Otolin-1 levels in the two groups was performed using the unpaired t -test. A p -value of 0.05 was considered to be statistically significant. Results The participants were divided into two groups, with 31 MD patients, and 30 age and gender-matched members of the control group. The serum levels of Otolin-1 in MD patients (247.6, ± 44.2 pg/ml) were not found to be significantly different from those of the control group (236.2, ± 43.5 pg/ml) ( p = 0.31). Conclusion The current study reveals that the serum levels of Otolin-1 are not significantly different between the patients with MD in the interictal phase and the control group's healthy ones.

The Role of Serum Galactomannan Assay as a Potential Surrogate Biomarker for Fungal Microinvasion in Allergic Fungal Rhinosinusitis.

We conducted this study to determine if serum galactomannan (GM) can be used as a marker to implicate the invasiveness of allergic fungal rhinosinusitis (AFRS), and correlate this value with the aggressiveness of disease documented via computed tomography (CT). All paranasal CT scans done for AFRS patients prospectively over a five-year period (2015-2019) were included. An indigenous 20-point score was used to document the extent of bone erosion seen on CT, wherein a higher score meant a greater extent of bone erosion. It was then correlated with serum GM scores. The median CT scores of galactomannan-positive (GM+) patients were compared with the median CT scores of galactomannan-negative (GM-) patients 3 using Mann-Whitney U test. The patients were divided into five groups based on the extent of disease-No bone erosion, erosion of only sinus wall/orbit, 3 erosion of orbit and skull base, erosion of only skull base and lateral extension of disease into infratemporal fossa (ITF). Subgroup analysis was conducted over mean GM values in these groups using ANOVA test. p-value < 0.05 was considered significant. Statistical analysis was performed using SPSS version 25.0. A total of 92 patients were included (56 males, 36 females). No statistically significant difference was found (p-value = 0.42) between the CT scores of galactomannan-positive (GM+) group and galactomannan-negative (GM-) group. The mean GM scores amongst the five sub-groups did not show a statistically significant difference. Serum galactomannan values correlate poorly with aggressiveness of disease quantified on non-contrast CT of paranasal sinuses.

An Audit of the Procedure of Open Thyroidectomy at A Tertiary Care Centre.

We plan to evaluate the various variables associated with the complications of thyroidectomy performed at our department in the last 5 years. Medical records of the patients who underwent thyroidectomy during 2014-2018 were collected. Complications of hypocalcemia and recurrent laryngeal nerve palsy were analysed in terms of the demography, cytopathology and the extent of surgery. Student's t-test, Mann-Whitney U-test, Fisher exact test and chi square test were applied to look for any significant associations. P value < 0.05 was considered significant. 123 patients were analysed (87 females, 38 males). Mean age was 38.3 years (range 11-71 years). Most common cytopathology was papillary carcinoma thyroid (Bethesda VI) - 43/123 (35%). 107 of these 123 patients underwent primary surgery, 10 underwent revision surgery while 6 underwent completion thyroidectomy. Seven patients incurred RLN palsy out of which 3 were temporary. RLN palsy was seen in only malignant cases (p < 0.05). Incidence was higher in T4a stage (p < 0.05). However, it had no association with a simultaneous central or lateral neck dissection. Hypocalcemia was seen in 22 patients (17.8%), out of whom 9 patients developed permanent hypocalcemia. It was seen significantly higher in patients undergoing central neck dissection (p < 0.05) and in malignant thyroid lesions (p < 0.05). Gender, age and the cytopathology had no bearing on RLN palsy and hypoparathyroidism. Malignant thyroid lesions had a significantly higher incidence of RLN palsy and hypoparathyroidism. A thorough anatomical knowledge can reduce the incidence of these complications.

Imaging features of toxicities associated with immune checkpoint inhibitors.

The past decade has witnessed a change in landscape of cancer management with the advent of precision oncology. Immune checkpoint inhibitors (ICIs) have revolutionized cancer treatment and have played an important role in improving patient survival. While the patients are living longer, treatment with ICIs are sometimes associated with adverse effects, some of which could be fatal. Radiologists can play a crucial role by early identification of some of these adverse effects during restaging scans. Our paper focuses on the imaging features of commonly occurring ICI toxicities based on organ system.

Human papilloma virus in the etiopathogenesis of allergic nasal polyposis: A prospective study.

PURPOSE: To evaluate and compare the prevalence of high-risk HPV and low-risk HPV types in patients with chronic rhinosinusitis with nasal polyposis (CRSwNP) and healthy controls. MATERIALS AND METHODS: A prospective cohort study was conducted in a tertiary care hospital on the patients of CRSwNP undergoing surgical management. All patients underwent preoperative endoscopic evaluation and radiological assessment using NCCT of the nose and paranasal sinuses. The severity of the disease was graded using the Lund-Mackay score on NCCT. All patients underwent endoscopic polypectomy and the sample of tissues was sent for HPV DNA detection using Hybrid Capture II® technique. The clinicopathological characteristics of HPV positive and negative patients were compared. RESULTS: Sixty cases and 20 controls were included in the study. All controls were negative for HPV DNA. 27 patients (45%) had the presence of HPV DNA, out of which 23 had only LR-HPV and 1 had only HR-HPV types. Three patients had both HR-HPV and LR-HPV subtypes. There was a significant difference between the cases and controls for the presence of HPV DNA (p < 0.001). However, the patients with HPV-positive DNA in the nasal specimen did not differ significantly from HPV-negative patients in age, gender, or severity of the disease. CONCLUSIONS: Human papillomaviruses may play a significant role in the etiopathogenesis of CRSwNP, however, do not impact the degree of sinus involvement.

COVID-19 ARDS: a review of imaging features and overview of mechanical ventilation and its complications.

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.

Morphometry of the Digastric Ridge and Its Significance for Mastoid Surgeries-A Cadaveric Study.

OBJECTIVE: Digastric ridge (DR) is an important landmark to locate facial nerve (FN) and sigmoid sinus for mastoid surgeries and transmastoid approaches. We aim to look for the effect of temporal bone pneumatization on the morphometry of the DR and its relation to the adjoining structures. METHODS: Temporal bones were harvested from unclaimed cadavers after the approval of the ethical committee. The dissection of the temporal bones was performed under a microscope, and the length of the DR and the distance between the mastoid segment of the FN and the anterior end of DR (FN-DR distance) were measured using a digital caliper. Stata version 14.0 was used to perform the statistical calculations. RESULTS: Ninety-three temporal bones were microdissected (right:left = 47:46; well pneumatized:poorly pneumatized = 58:35). Mean length of the DR was 17.1 mm and was significantly longer in well-pneumatized bones (P = .0000). The mean distance between the anterior end of the digastric ridge and the mastoid part of the facial nerve was 4 mm. The distance was significantly more in well-pneumatized bones. CONCLUSION: Prominence and the length of the DR, as well as the FN-DR distance, are significantly more in well-pneumatized bones compared to poorly pneumatized bones. This finding has potential surgical implications with reduced risk of injury to the FN resulting from a conspicuous DR in well-pneumatized bones.

Radiographic Measurement of Cochlear Duct Length in an Indian Cadaveric Population - Importance of Custom Fit Cochlear Implant Electrodes

Abstract Introduction Successful cochlear implantation requires an appropriate insertion depth of the electrode, which depends on cochlear duct length CDL). The CDL can vary due to ethnic factors. Objective The objective of the current study was to determine the CDL in an Indian adult cadaveric population. Methods The present was a cadaveric study using the temporal bones obtained after permission of the Institutional Review Board. The temporal bones were subjected to high-resolution computed tomography (HRCT), and the double oblique reformatted CT images were reconstructed through the basal turn of the cochlea. The reformatted images were then viewed in the minimum-intensity projection (minIP) mode, and the 'A' value (the diameter of the basal turn of the cochlea) was calculated. The CDL was then measured using the formula CDL = 4.16A - 4 (Alexiades et al). The data analysis was performed using the Microsoft Excel software, version 2016. Results A total of 51 temporal bones were included for imaging analysis. The CDL varied from 27.6 mm to 33.4 mm, with a mean length of 30.7 mm. There was no statistically significant difference between the two sides. Conclusion The CDL can be calculated with preoperative high-resolution CT, and can provide a roadmap for effective cochlear implant electrode insertion. The population-based anatomical variability needs to be taken into account to offer the most efficient and least traumatic insertion of the electrode.

Radiographic Measurement of Cochlear Duct Length in an Indian Cadaveric Population - Importance of Custom Fit Cochlear Implant Electrodes.

Introduction Successful cochlear implantation requires an appropriate insertion depth of the electrode, which depends on cochlear duct length CDL). The CDL can vary due to ethnic factors. Objective The objective of the current study was to determine the CDL in an Indian adult cadaveric population. Methods The present was a cadaveric study using the temporal bones obtained after permission of the Institutional Review Board. The temporal bones were subjected to high-resolution computed tomography (HRCT), and the double oblique reformatted CT images were reconstructed through the basal turn of the cochlea. The reformatted images were then viewed in the minimum-intensity projection (minIP) mode, and the 'A' value (the diameter of the basal turn of the cochlea) was calculated. The CDL was then measured using the formula CDL = 4.16A - 4 (Alexiades et al). The data analysis was performed using the Microsoft Excel software, version 2016. Results A total of 51 temporal bones were included for imaging analysis. The CDL varied from 27.6 mm to 33.4 mm, with a mean length of 30.7 mm. There was no statistically significant difference between the two sides. Conclusion The CDL can be calculated with preoperative high-resolution CT, and can provide a roadmap for effective cochlear implant electrode insertion. The population-based anatomical variability needs to be taken into account to offer the most efficient and least traumatic insertion of the electrode.

Study of morphologic variability of incudostapedial angle and its relation with temporal bone pneumatization.

INTRODUCTION: Optimal sound transmission across the ossicular chain is dependent on the appropriate alignment of the middle ear ossicles. Incudostapedial joint (ISJ) is conventionally considered to be at right angle. OBJECTIVE: We intended to study the ISJ anatomy and the impact of temporal bone pneumatization on the same. METHODS: In a cadaveric study comprising of 47 human temporal bones, canal wall down mastoidectomy was carried out under microscopic guidance keeping the ossicular chain intact. The morphology of ISJ was recorded and analysed with respect to the pneumatization status of the temporal bone. The data analysis was performed using statistical software Stata version 12.0. RESULTS: The mean ISJ angle for the 47 bones was 90.50 (SD-150; range:540-1220). The mean angle in well pneumatized bones was 93.70 (SD-16.5; Range:54°-1220) and in sclerotic mastoids was 88.70 (SD-14; Range:68°-1180). The difference in the ISJ angle in these two conditions was not statistically significant (p = 0.27). The mean angle was found to be significantly more obtuse in the cases with partially eroded ISJ (111.40 {SD-8.8; range:100.30-121.90}; p = 0.0001) and in the cases with an 'adherent/tilted morphology' of the stapes suprastructure with the promontory (mean-95.80{SD-13.8; range:70.70- 120.40); p- <0.00001). CONCLUSION: The ISJ angle shows considerable variations. This variability needs to be taken into account when undertaking middle ear reconstructive procedures, specifically the ones involving the stapes footplate. The mastoid pneumatization does not appear to have an impact on the ISJ angle.

Sudden sensorineural hearing loss - A contemporary review of management issues.

Sudden sensorineural hearing loss (SSNHL) is an enigmatic entity, with obscure pathophysiology and debatable efficacy of the treatment agents used. An underlying cause is identified in only 10-15% of cases. The management of the remaining patients, classified as 'idiopathic', is empirical, and is conventionally with systemic steroids, vasodilator therapy, rheological agents, and antioxidants, to list a few amongst the host of the agents employed for the treatment. The availability of conflicting outcomes and lack of conclusive evidence has resulted in the propagation of consensus-based treatment protocols. In the present review, we discuss the various controversial issues and newer developments in the management of idiopathic SSNHL. The current review aims to present a narrative outlook of the updated evidence base available from PUBMED, augmented with relevant designated publications.

Grading of the Position of the Mastoid Tegmen in Human Temporal Bones - A Surgeon's Perspective.

OBJECTIVES: To establish a new surgically relevant classification system of the anatomic variations of the temporal bone tegmen plate as well as to perform a comparative analysis, with respect to the pneumatization patterns in the cadaveric temporal bones. MATERIALS AND METHODS: Microdissection of the human cadaveric temporal bones was performed after obtaining ethical approval from the Institutional Ethical Committee (F.8-522/A-522/2017/RS). The pneumatization pattern of the temporal bones was noted as "under-pneumatized" or "well-pneumatized." The tegmen mastoid (TM) was classified into two grades as per the position of the tegmen plate and the visibility of the superior semicircular canal (SSCC) and the aditus. The latter two structures were well visualized in Grade A and poorly visualized in Grade B. The data were analyzed using Stata 14.0 (Stata Corp, 4905, Lakway drive, College Station, Texas, USA). RESULTS: Ninety-three temporal bones were dissected under microscope. Fifty-eight bones were well-pneumatized and 35 were under-pneumatized. The tegmen plates were classified as Grade-A in 49 bones (well-pneumatized -37 and under-pneumatized -12), and as Grade-B in 44 bones (well-pneumatized-21, poorly-pneumatized-23). Grade-A classification was significantly more common in well-pneumatized temporal bones, while Grade-B was more common in under-pneumatized bones (p=0.0057). CONCLUSION: We propose a surgically relevant classification for TM positioning. A well-pneumatized temporal bone is associated with a significantly higher position of the tegmen plate (Grade-A TM).

Primary Spheno-Petro-Clival Tuberculosis.

The increase awareness and advent of anti-tuberculosis therapy led to decline in tuberculosis. Now a resurgence of tuberculosis is with immunosuppression and with resistant strains. The detection rate of extrapulmonary is increased with the advent of newer modalities of detection, imaging, and better testing. This case series documents our experience with seven cases of primary spheno-petro-clival lesion and details of the clinical and radiological presentations of these patients. Intraoperative obtained tissue was send for histopathological and microbiological evaluation. The most common symptoms were headache and nasal discharge. The final diagnosis of spheno-petro-clival tuberculosis was confirmed in all cases with histopathology and by culture post-operatively. Skull base tuberculosis is relative rare entity in past because of late occurrence of specific symptom, incomplete radiological evaluation and it may present as neck swelling by travelling through various neck spaces. (1) Tubercular infection should be considered as differential in skull base lesion as pickup rate is increasing with advancement in technology. (2) Two of our cases had retropharyngeal abscess have focus in skull base bone. The skull base, hence, may be one of foci in undetermined sites of tuberculous infections and should be searched for.

Study of Sigmoid Sinus Variations in the Temporal Bone by Micro Dissection and its Classification - A Cadaveric Study

Abstract Introduction Sigmoid sinus (SS) variations have been classified variously in the literature. These classifications suffer from some form of shortcoming from a clinical point of view for their application. Objective We propose a clinically relevant classification of the SS in relation to the posterior semicircular canal (PSCC) and to the exposure of the presigmoid dural plate. The positioning of the SS was analyzed with reference to the volume of themastoid and to the level of mastoid pneumatization. Methods A total of 94 formalin-preserved human cadaveric temporal bones were microdissected to carry out a complete mastoidectomy. The SS, the presigmoid dural plate, and the PSCCwere exposed, and the position of the former was analyzed in relation to the latter two in order to classify the position of the SS into three grades. Results GradeI hadthebest exposureof the presigmoid dura andof the PSCC,while grade III had the poorest exposure of the presigmoid dura and of the PSCC. Grade I SS was associated with good pneumatization and highermastoid volumescompared with grades II and III. Conclusions The SS exhibits considerable anatomic variability. A favorable positioning of the SS is associated with a large mastoid volume and pneumatization. A careful preoperative study of the imaging may help in understanding the positioning of the SS and the safety of various transmastoid approaches.

Squamous cell carcinoma as a somatic-type malignancy in an extragonadal immature teratoma of the sinonasal region.

Somatic-type malignancy arising in a teratoma of the sinonasal region is extremely unusual, creating a diagnostic dilemma. There are no definite guidelines for management of such cases. A 15-year-old male with a maxillary mass was misdiagnosed as angiomyolipoma, maxillary carcinoma, mucoepidermoid carcinoma, and teratocarcinosarcoma, followed by the final diagnosis of squamous cell carcinoma arising in an immature teratoma. He received neoadjuvant chemotherapy, followed by surgery and chemo-radiotherapy, and is disease-free at 21 months. This case highlights the difficulty faced when diagnosing neoplasms unusual to the head and neck region, particularly on small biopsies, and good outcome following appropriate multimodality management.

Study of Sigmoid Sinus Variations in the Temporal Bone by Micro Dissection and its Classification - A Cadaveric Study.

Introduction Sigmoid sinus (SS) variations have been classified variously in the literature. These classifications suffer from some form of shortcoming from a clinical point of view for their application. Objective We propose a clinically relevant classification of the SS in relation to the posterior semicircular canal (PSCC) and to the exposure of the presigmoid dural plate. The positioning of the SS was analyzed with reference to the volume of the mastoid and to the level of mastoid pneumatization. Methods A total of 94 formalin-preserved human cadaveric temporal bones were microdissected to carry out a complete mastoidectomy. The SS, the presigmoid dural plate, and the PSCC were exposed, and the position of the former was analyzed in relation to the latter two in order to classify the position of the SS into three grades. Results Grade I had the best exposure of the presigmoid dura and of the PSCC, while grade III had the poorest exposure of the presigmoid dura and of the PSCC. Grade I SS was associated with good pneumatization and higher mastoid volumes compared with grades II and III. Conclusions The SS exhibits considerable anatomic variability. A favorable positioning of the SS is associated with a large mastoid volume and pneumatization. A careful preoperative study of the imaging may help in understanding the positioning of the SS and the safety of various transmastoid approaches.