Pathological Entity Research Articles

Mid-term outcomes of physician-modified endograft therapy for complex aortic aneurysms.

Our goal was to evaluate early and mid-term outcomes of physician-modified endografting for pararenal and thoraco-abdominal aortic aneurysms from 10 Japanese aortic centres. From January 2012 to March 2022, a total of 121 consecutive adult patients who underwent physician-modified endografting for pararenal and thoraco-abdominal aortic aneurysms were enrolled. We analysed early and mid-term postoperative outcomes, including postoperative complications and mortality. The pararenal and thoraco-abdominal aortic aneurysm groups included 62 (51.2%) and 59 (48.8%) patients, respectively. The overall in-hospital mortality rate was 5.8% (n = 7), with mortality rates of 3.2% (n = 2) and 8.5% (n = 5) in pararenal and thoraco-abdominal aortic aneurysm groups, respectively (P = 0.225). Type IIIc endoleaks occurred postoperatively in 18 patients (14.9%), with a significantly higher incidence (P = 0.033) in the thoraco-abdominal aortic aneurysm group (22.0%, n = 13) than in the other group (8.1%, n = 5). Major adverse events occurred in 7 (11.3%) and 14 (23.7%) patients in pararenal and thoraco-abdominal aortic aneurysm groups (P = 0.074), respectively. The mean follow-up period was 24.2 months. At the 3-year mark, both groups differed significantly in freedom from all-cause mortality (83.3% and 54.1%, P = 0.004), target aneurysm-related mortality (96.8% and 82.7%, P = 0.013) and any reintervention (89.3% and 65.6%, P = 0.002). Univariate and multivariate regression analyses demonstrated that ruptures, thoraco-abdominal aortic aneurysms and postoperative type IIIc endoleaks were associated with an increased risk of all-cause mortality. The mid-term outcomes of physician-modified endografting for pararenal and thoraco-abdominal aortic aneurysms were clinically acceptable and comparable with those in other recently published studies. Notably, pararenal and thoraco-abdominal aortic aneurysms represent distinct pathological entities with different postoperative outcomes.

Gastric-type glandular lesions of the female genital tract excluding the cervix: emerging pathological entities.

In the last two decades or so, a spectrum of benign, premalignant and malignant cervical glandular lesions exhibiting gastric differentiation has been described, with gastric-type adenocarcinoma representing the most common human papillomavirus (HPV)-independent cervical adenocarcinoma. More recently, limited literature has reported a variety of gastric-type glandular lesions at other sites within the female genital tract and, as in the cervix (the most common site for these lesions), a spectrum of benign, premalignant and malignant lesions has been proposed. We provide an update and review of the emerging spectrum of gastric-type glandular lesions at female genital tract sites other than the cervix. In the endometrium, putative gastric-type glandular lesions include mucinous metaplasia of gastric-type, atypical mucinous proliferation of gastric-type and gastric-type adenocarcinoma. Similarly in the vagina, gastric-type adenosis, atypical adenosis and adenocarcinoma have been described. There have also been occasional reports of gastric-type lesions involving the ovary and fallopian tube. We provide guidance on how to recognise gastric-type lesions morphologically and immunophenotypically and stress that sometimes these lesions occur at more than one site within the female genital tract (synchronous/multifocal gastric-type lesions of the female genital tract), sometimes in association with Peutz-Jeghers syndrome.

Cervical impairments in subjects with migraine or tension type headache: an observational study.

The aim of this investigation was to compare the thickness of the deep local muscles in the neck region, as well as local and widespread sensitivity and functionality, between individuals with migraine, Tension-Type Headache (TTH), and healthy controls. To date, we know that the onset of migraine and TTH share similar pathophysiological pathways. Nevertheless, there may be some anatomical and functional differences which would explain why clinicians may obtain variable results when treating both pathological entities with similar or equal approaches. An observational study was conducted in accordance with STROBE guidelines. The flexor longus colli and multifidus, two neck-stabilizing muscles, were measured using B-mode ultrasound imaging. The upper trapezius, masseter, temporalis, tibialis anterior, and median nerve all underwent bilateral pressure-pain threshold (PPT) assessments. Ninety participants were enrolled in the study. All subjects were equally divided into TTH, migraine and control groups. The PPT values exhibited lower thresholds in patients with TTH than both migraine and healthy participants. Specifically, in the temporal muscle on both sides, patients with TTH exhibited a significantly lower threshold (p < 0.001)than both migraine and healthy participants. Patients with TTH displayed significantly lower thresholds in both upper trapezius muscles (right: p < 0.001; left: p = 0.001). Similar results were obtained for the tibialis anterior PPTs from both sides (p = 0.001 in both). However, both clinical groups exhibited lower thresholds than the healthy subjects (p < 0.001). In multifidus muscle cross-sectional area (CSA), no statistically significant differences were found between migraine patients and healthy subjects, both in relaxation and contraction (right; p > 0.05 and p > 0.05; left: p > 0.05 and p > 0.05). However, patients with TTH exhibited a smaller CSA than both migraine patients and healthy controls in multifidus relaxed and contracted state (right: p < 0.001 in both relaxed and contracted multifidus; left: p = 0.001 and p < 0.001, respectively). Similar results were obtained for the left longus colli muscle in both relaxation and contraction for patients with TTH and migraine compared with healthy subjects (p = 0.001 and p < 0.001, respectively, for muscle relaxation and p < 0.001 for muscle contraction). However, no significant differences were observed between patients with TTH and migraine (p < 0.05 in both relaxation and contraction). In the right longus colli, TTH and migraine patients had a significantly smaller CSA during contraction than healthy subjects (p < 0.001 in both comparisons). In the craniocervical flexion test, both groups of patients with TTH and migraine showed significantly lower values than healthy subjects (p < 0.001 in both comparisons). However, no significant differences were found between patients with TTH and migraineurs (p > 0.05). The findings provide a significant message for clinicians since anatomical and functional impairments were shown in patients with TTH and migraine. This study corroborates a lack of strength and smaller CSA in both clinical groups compared to controls. Therefore, strengthening programs may be addressed successfully for people with these pathological entities. To be more accurate, according to PPTs and CSA lower values in patients with TTH compared to migraine and controls, manual therapy approaches to desensitize craniocervical soft tissues and exercise therapy to increase endurance of deep cervical muscles may become meaningful especially in subjects with TTH. Nevertheless, in order to distinguish precisely between patients with TTH and migraine, different diagnostic strategies may be used in the future to describe these populations in further detail, which will assist health professionals in a more accurate treatment selection.

Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

Background: Baraitser-Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser-Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two different genes, ACTB for BRWS1 and ACTG1 for BRWS2. In addition to syndromic BRWS2, some pathogenic variants in ACTG1 are associated also to another pathologic entity, the "Autosomal dominant non-syndromic hearing loss 20/26". In these syndromes, typical craniofacial features, sensory impairment (vision and hearing) and intellectual disabilities are frequently present. Heart anomalies, renal and gastrointestinal involvement and seizure are also common. Wide inter- and intra-familial variety in the phenotypic spectrum is reported. Some phenotypic aspects of these syndromes are not yet fully described, such as the degree and progression of HL, and better knowledge of them could be useful for correct follow-up and treatment. Methods and Results: In this study, we report two cases of children with HL and diagnosis of BRWS and a review of the current literature on HL in these syndromes.

Multimodality imaging of acute and chronic pulmonary thromboembolic disease.

Pulmonary embolism (PE) is a pathological entity characterised by venous thromboembolism in the pulmonary arteries. It is a common entity in daily clinical practice and is the third most common cause of cardiovascular death. Correct diagnostic work-up is pivotal to ensure timely institution of appropriate therapy. This requires recognition of the characteristic imaging findings and awareness of the role and peculiarities of the different imaging techniques involved in the diagnostic and therapeutic process. This review aims to showcase the most commonly encountered imaging findings associated with pulmonary thromboembolism for each imaging modality, outline their advantages and disadvantages, and define the specific role of these techniques in the clinical setting. The latest innovations concerning the diagnostic work-up of PE will be also briefly discussed, yielding a perspective on the future developments and challenges that the radiologist will have to face in the coming years.

Brain Swelling versus Infarct Size: A Problematizing Review.

In human stroke, brain swelling is an important predictor of neurological outcome and mortality, yet treatments to reduce or prevent brain swelling are extremely limited, due in part to an inadequate understanding of mechanisms. In preclinical studies on cerebroprotection in animal models of stroke, historically, the focus has been on reducing infarct size, and in most studies, a reduction in infarct size has been associated with a corresponding reduction in brain swelling. Unfortunately, such findings on brain swelling have little translational value for treating brain swelling in patients with stroke. This is because, in humans, brain swelling usually becomes evident, either symptomatically or radiologically, days after the infarct size has stabilized, requiring that the prevention or treatment of brain swelling target mechanism(s) that are independent of a reduction in infarct size. In this problematizing review, we highlight the often-neglected concept that brain edema and brain swelling are not simply secondary, correlative phenomena of stroke but distinct pathological entities with unique molecular and cellular mechanisms that are worthy of direct targeting. We outline the advances in approaches for the study of brain swelling that are independent of a reduction in infarct size. Although straightforward, the approaches reviewed in this study have important translational relevance for identifying novel treatment targets for post-ischemic brain swelling.

Primary Pelvic Anteversion: Definition, Relevance, and History After Surgery for Adult Spine Deformity.

Retrospective analysis of prospectively collected data. To identify the best definition of primary anteverted pelvis in the setting of adult spine deformity (ASD), and to investigate whether this is a pathologic setting that requires surgical correction. While pelvic retroversion has been thoroughly investigated, pelvic anteversion (AP) is a far lesser discussed topic. Four different AP definitions have been proposed, and AP has been described as a normal or pathologic entity by different authors. All patients consulting for ASD at the five participating sites were included. First, the four definitions of AP were compared with descriptive statistics (anatomic method-Pelvic Tilt <0°; Relative Pelvic Version method-RPV >5°; Roussouly method-Pelvic Incidence (PI)<50° and Sacral Slope (SS)>35°); low PT method-PT/PI <25th percentile). Second a subgroup analysis among operated AP patients with a two-year follow-up was performed. Complication rate, radiographic parameters, and clinical scores (ODI, SF-36) were compared in a multivariate analysis between patients who did and did not maintain an AP at the 2-year follow-up. A total of 1163 patients were available for the first analysis. The RPV method seemed to be the most appropriate to define AP in ASD patient. For the second analysis, data on 410 subjects were available, and most of them were young adults with idiopathic scoliosis that did not require pelvic fixation. AP patients who maintained an AP after ASD surgery presented comparable radiographic and clinical outcomes to the patients who presented a normoverted/retroverted pelvis after surgery. According to the results of the presented study, the RPV method is the most appropriate to define primary AP, which is not a pathologic condition and is most often observed in young adults with idiopathic scoliosis. Anteverted pelvis does not require direct surgical correction in this patient group.

Thoracic ultrasound use in hospitalized and ambulatory adult patients: a quantitative picture

Introduction and objectivesThoracic ultrasound (TUS) has been established as a powerful diagnostic and monitoring tool in the Intensive Care Unit (ICU). However, studies outside the critical care setting are scarce. The aim of this study was to investigate the value of TUS for hospitalized or ambulatory community patients.Materials and methodsThis was a retrospective study conducted from 2016 to 2020 in the TUS clinic at Heraklion University Hospital. TUS examination was performed using a standard ultrasound machine (EUB HITACHI 8500), and a high-frequency microconvex probe (5–8 MHz). Patients had been referred by their primary physician to address a range of different questions. The various respiratory system entities were characterised according to internationally established criteria.Results762 TUS studies were performed on 526 patients due to underlying malignancy (n = 376), unexplained symptoms/signs (n = 53), pregnancy related issues (n = 42), evaluation of abnormal findings in X-ray (n = 165), recent surgery/trauma (n = 23), recent onset respiratory failure (n = 12), acute respiratory infection (n = 66) and underlying non-malignant disease (n = 25). Pleural effusion was the commonest pathologic entity (n = 610), followed by consolidation (n = 269), diaphragmatic dysfunction/paradox (n = 174) and interstitial syndrome (n = 53). Discrepancies between chest X-ray and ultrasonographic findings were demonstrated in 96 cases. The TUS findings guided invasive therapeutic management in 448 cases and non-invasive management in 43 cases, while follow-up monitoring was decided in 271 cases.ConclusionsThis study showed that TUS can identify the most common respiratory pathologic entities encountered in hospitalized and community ambulatory patients, and is especially useful in guiding the decision making process in a diverse group of patients.

Low-grade oncocytic tumor: a review of radiologic and clinical features.

The 2022 World Health Organization classification of renal neoplasia expanded the spectrum of oncocytic neoplasms to encompass newly established and emerging entities; one of the latter is the low-grade oncocytic tumor (LOT). This study reports the radiologic appearance and clinical behavior of LOT. In this IRB-approved, HIPPA-compliant retrospective study, our institution's pathology database was searched for low-grade oncocytic tumors or neoplasms. Patient age, gender, and comorbidities were obtained from a review of electronic medical records, and imaging characteristics of the tumors were assessed through an imaging platform. The pathology database search yielded 14 tumors in 14 patients. Four patients were excluded, as radiologic images were not available in three, and one did not fulfill diagnostic criteria after pathology re-review. The resulting cohort consisted of 10 tumors (median diameter 2.3cm, range 0.7-5.1) in 10 patients (median age 68years, range 53-91, six women). All tumors presented as a solitary, well-circumscribed, mass with solid components. All enhanced as much or almost as much as adjacent renal parenchyma; all but one enhanced heterogeneously. None had lymphadenopathy, venous invasion, or metastatic disease at presentation or at clinical follow-up (median, 22.2months, range 3.4-71.6). Among five tumors undergoing active surveillance, mean increase in size was 0.4cm/year at imaging follow-up (median 16.7months, range 8.9-25.4). LOT, a recently described pathologic entity in the kidney, can be considered in the differential diagnosis of an avidly and typically heterogeneously enhancing solid renal mass in an adult patient.

Hepatitis B and C Viruses: Prevalence and co-factors among patients with liver cirrhosis

Liver cirrhosis is the final pathway of multiple chronic liver diseases and is a pathological entity defined as diffuse hepatic fibrosis and regenerative nodule formation. The objective of this study was to investigate the prevalence and co-factors of hepatitis B and C viruses among patients with liver cirrhosis. A total of 79 patients were registered from 2018 to 2022. The prevalence of liver cirrhosis in 2018, 2019, and 2020. 2021 and 2022 were 21.7%, 13.0%, 19.1%, 6.1% and 8.7%, respectively. The incidence of cirrhosis was significantly (P = 0.01) greater in rural areas than in urban areas. In addition, according to age, the incidence of cirrhosis was significantly (P = 0.001) greater in those &gt;52 years old than in those 18-40 and 41-52 years old. Moreover, the incidence of cirrhosis was greater in females than in males, but the difference was not significant. Without that, the causes of cirrhosis for HBV, HCV and Non-B and Non-C patients were 13% and 40%, 15.7%, respectively. The results showed that causes of cirrhosis were significantly associated with HCV incidence, and the prevalence of underweight, normal, overweight, and obese individuals was 13%, 15.7%, 26.1% and 18.9%, respectively. Prevalence according to BMI categories did significantly differ among the categories. Furthermore, the incidences of diabetes mellitus for patients with HBV and HCV and for non-B and non-C individuals were 21.7%, 47% and 31.3%, respectively, but the incidence of diabetes mellitus was significantly associated with the incidence of HCV. In addition, the incidences of encephalopathy for HBV, HCV and non-B and non-C patients were 20.9%, 47.8%, and 31.3%, respectively, and for Ascites, they were 24.3%, 44.3%, and 31.4%, respectively. Finally, the incidence of cirrhosis was significantly (P = 0.001) greater in smoking patients than in nonsmokers.

Management of a recurrent spinal arachnoid cyst presenting as arachnoiditis in the setting of spontaneous spinal subarachnoid hemorrhage: illustrative case.

Spontaneous spinal subarachnoid hemorrhage is a rare pathological entity with a variety of presentations depending on the underlying etiology, which often remains cryptogenic. The literature is sparse regarding the most efficacious treatment or management option, and there is no consensus on follow-up time or modalities. Additionally, there are very few reports that include operative videos, which is provided herein. The authors present a case of spontaneous spinal subarachnoid hemorrhage without an underlying etiology in a patient with progressive myelopathy, back pain, and lower-extremity paresthesias. She presented to our institution, and because of progressive worsening of her symptoms and the development of compressive arachnoid cysts, she underwent thoracic laminectomies for evacuation of subdural fluid, fenestration of the arachnoid cysts, and lysis of significant arachnoid adhesions. Her clinical course was further complicated by the recurrence of worsening myelopathy and the development of a large compressive arachnoid cyst with further arachnoiditis. The patient underwent repeat surgical intervention for cyst decompression with an improvement in symptoms. This case highlights the importance of long-term follow-up for these complicated cases with an emphasis on repeat magnetic resonance imaging. Unfortunately, surgical intervention is associated with short-term relief of the symptoms and no significant nonoperative management is available for these patients.

Cardio-Renal Syndrome: Experience of A Nephrology and Cardiology Department in Senegal In West Africa

Introduction: Cardio-renal syndrome (CRS) is a complex physio pathological entity affecting the heart and kidneys in which acute or chronic dysfunction of one organ can lead to acute or chronic dysfunction of the other organ. The objective of this work was to evaluate the profiles of patients with cardio-renal syndrome in the nephrology and cardiology departments of the Aristide Le Dantec Hospital (HALD) in Dakar. Patients and Methods: This were a prospective descriptive and analytical study over a period of 6 months. This study included any patient seen in consultation or hospitalized in the nephrology and cardiology departments and presenting with cardio-renal syndrome. Results: The hospital prevalence of CRS was 19.18%. The average age of the patients was 62.128 ± 16.27 years with a sex ratio of 1.54. Forty-three patients (37%) had type 1 CRS; 30 patients (26%) had type 5 CRS; 28 patients (23%) had type 2 CRS; 8 patients had type 3 and type 4 CRS (7% each). The etiologies were dominated by decompensated heart failure (42%) for type 1, ischemic heart disease for type 2, acute lung edema (50%) for type3, nephroangiosclerosis (62%) for type 4 and hypertension (66%) for type 5. Conclusion: Cardio renal syndromes are common in cardiological and nephrological hospitalizations and remain underdiagnosed.

Anemia: Transfuse First or Diagnose First?

Severe anemia as a pathological entity can be poorly managed with allogeneic blood transfusion if appropriate hematological diagnosis is not made. A ‘transfusion mentality’ that one solution (allogenic blood transfusion) fits all anemia can lead to poor outcomes and increases the risk associated with allogeneic blood transfusion. The case report emphasizes that all anemia must be diagnosed first to determine etiology and hence appropriate treatment. It also shows that not all anemia needs blood transfusion. Respecting patient’s wishes can be in the best interest of the patient and the physician.

Elucidating Axillary Soft Tissue Involvement in Breast Cancer: Unveiling Metastatic Mechanisms and Therapeutic Perspectives

This perspective focuses on axillary soft tissue (AXT) involvement in breast cancer, revealing diverse pathological entities beyond traditional axillary lymph node metastasis. AXT involvement is linked to increased risks of distant metastasis and locoregional failure, emphasizing its significance in predicting breast cancer outcomes. We posit that AXT involvement could signify a retrograde metastatic event stemming from reactivated circulating tumor cells navigating towards the axillary soft tissue guided by chemokines. Therefore, AXT disease warrants aggressive systemic therapy. Axillary radiation therapy could be a potentially preferable alternative to axillary lymph node dissection. Routine reporting of axillary soft tissue involvement is crucial for accurate treatment planning.

Is there a rise of prevalence for Molar Incisor Hypomineralization? A meta-analysis of published data

Since Molar Incisor Hypomineralization was first described as a pathologic entity, public perception often suggests a considerable rise in prevalence of the respective disease. Since there are still considerable doubts regarding the etiology and—accordingly—prevention of MIH and respective therapeutic approaches are difficult this question is of considerable clinical and public interest. Accordingly, a systematic literature search in accordance with the PRISMA guidelines for systematic reviews on Medline, Cochrane Database, EMBASE, LILACS, Web of Science, Google scholar, Scopus was performed to retrieve original articles reporting the prevalence of MIH as defined by the European Academy of Pediatric Dentistry (EAPD). From initially 2360 retrieved titles, 344 full texts were assessed for possible inclusion and finally 167 articles of mainly moderate to high quality and based on data of 46′613 individuals were included in the meta-analysis. All studies published before 2001 had to be excluded since it was not possible to align the findings with the EAPD classification. Studies varied considerably regarding cohort size (25 to 23′320, mean 1′235)) and age (5.6–19 y, mean 9.8 y). Over all studies, the weighted mean for the prevalence for MIH was 12.8% (95% CI 11.5%-14.1%) and no significant changes with respect to either publication year or birthyear were found. A sub-analysis of eleven studies reporting on the prevalence in different age groups, however, revealed strong evidence for an increasing prevalence between the years 1992 (3%) and 2013 (13%).Therefore, based on data from cross-sectional studies a possible rise in prevalence of MIH remains unclear. Future prospective large-scale studies under standardized examination conditions with an emphasis on examiner calibration are needed to gain better understanding in the evolution of the prevalence of MIH.

Noninfectious Granulomatous Lung Disease: Radiological Findings and Differential Diagnosis.

Granulomatous lung diseases (GLDs) are a heterogeneous group of pathological entities that can have different clinical presentations and outcomes. Granulomas are histologically defined as focal aggregations of activated macrophages, Langerhans cells, and lymphocytes, and may form in the lungs when the immune system cannot eliminate a foreign antigen and attempts to barricade it. The diagnosis includes clinical evaluation, laboratory testing, and radiological imaging, which especially consists of high-resolution computed tomography. bronchoalveolar lavage, transbronchial needle aspiration or cryobiopsy, positron emission tomography, while genetic evaluation can improve the diagnostic accuracy. Differential diagnosis is challenging due to the numerous different imaging appearances with which GLDs may manifest. Indeed, GLDs include both infectious and noninfectious, and necrotizing and non-necrotizing granulomatous diseases and the imaging appearance of some GLDs may mimic malignancy, leading to confirmatory biopsy. The purposes of our review are to report the different noninfectious granulomatous entities and to show their various imaging features to help radiologists recognize them properly and make an accurate differential diagnosis.

Giant Cervical Lymphangioma Extending from Skull Base to Clavicle- A Rare Case.

Lymphangiomas are congenital benign lesions commonly seen in pediatric age group with a rare occurrence in the region of head and neck, commonly presenting as asymptomatic masses. Cervical lymphangioma is a rare entity among adults, and giant sized lymphangiomas in this region have sparse mention in literature. This case report describes the rare presentation of a giant cervical lymphangioma and the challenges involved to treat such masses in the region of head and neck. We encountered a rare case of a 52 year old female who presented with a 10 × 5cm swelling in the right posterior triangle of neck swelling since 6 months extending from skull base up till clavicle. Pathological and radiological entities confirmed the lesion as a "giant cervical lymphangioma". Head and neck lymphangiomas are congenital lesions of benign origin. Lymphangiomas have been classified as macrocystic if larger than 2cm, and microcystic if less than 2cm. Our description of a macrocystic 10 × 6 cm lesion is hence definitely one of the largest cervical lymphangiomas encountered till date. It's a problematic and arduous plan of treatment for such masses in head and neck with a high chance of recurrence if incompletely removed.

The Yin and Yang of non-immune and immune responses in meibomian gland dysfunction

Meibomian gland dysfunction (MGD) is a leading cause of dry eye disease and one of the most common ophthalmic conditions encountered in eye clinics worldwide. These holocrine glands are situated in the eyelid, where they produce specialized lipids, or meibum, needed to lubricate the eye surface and slow tear film evaporation – functions which are critical to preserving high-resolution vision. MGD results in tear instability, rapid tear evaporation, changes in local microflora, and dry eye disease, amongst other pathological entities. While studies identifying the mechanisms of MGD have generally focused on gland obstruction, we now know that age is a major risk factor for MGD that is associated with abnormal cell differentiation and renewal. It is also now appreciated that immune-inflammatory disorders, such as certain autoimmune diseases and atopy, may trigger MGD, as demonstrated through a T cell-driven neutrophil response. Here, we independently discuss the underlying roles of gland and immune related factors in MGD, as well as the integration of these two distinct mechanisms into a unified perspective that may aid future studies. From this unique standpoint, we propose a revised model in which glandular dysfunction and immunopathogenic pathways are not primary versus secondary contributors in MGD, but are fluid, interactive, and dynamic, which we likened to the Yin and Yang of MGD.

Recent advances and evolving concepts in Still's disease.

Still's disease is a rare inflammatory syndrome that encompasses systemic juvenile idiopathic arthritis and adult-onset Still's disease, both of which can exhibit life-threatening complications, including macrophage activation syndrome (MAS), a secondary form of haemophagocytic lymphohistiocytosis. Genetic insights into Still's disease involve both HLA and non-HLA susceptibility genes, suggesting the involvement of adaptive immune cell-mediated immunity. At the same time, phenotypic evidence indicates the involvement of autoinflammatory processes. Evidence also implicates the type I interferon signature, mechanistic target of rapamycin complex 1 signalling and ferritin in the pathogenesis of Still's disease and MAS. Pathological entities associated with Still's disease include lung disease that could be associated with biologic DMARDs and with the occurrence of MAS. Historically, monophasic, recurrent and persistent Still's disease courses were recognized. Newer proposals of alternative Still's disease clusters could enable better dissection of clinical heterogeneity on the basis of immune cell profiles that could represent diverse endotypes or phases of disease activity. Therapeutically, data on IL-1 and IL-6 antagonism and Janus kinase inhibition suggest the importance of early administration in Still's disease. Furthermore, there is evidence that patients who develop MAS can be treated with IFNγ antagonism. Despite these developments, unmet needs remain that can form the basis for the design of future studies leading to improvement of disease management.

GLI1-Altered Soft Tissue Tumor in the Tongue-A Case Report and Literature Review.

Background: Soft tissue tumors with fusions or amplifications of the GLI1 gene have distinctive molecular characteristics and have recently been considered a unique pathological entity, thus named "GLI1-altered soft tissue tumors." It is a rare mesenchymal neoplasm that involves soft tissues at any site. Case presentation: We report an example of this condition in a 13-year-old Chinese male patient who presented with a mass in the tongue. The tumor was multilobulated; the tumor cells were arranged in nests and sheets, had a rich, delicate fibrovascular network, and were separated by a hyalinized fibrous stroma. The tumor cells were epithelioid to ovoid, with variable eosinophilic to pale vacuolated cytoplasm and round to oval nuclei. Immunostaining revealed that the tumor cells were positive for CDK4 and CD56. Fluorescence in situ hybridization (FISH) for GLI1 translocation was positive, with a high level of amplification of the translocated segment. Literature review: We present a comprehensive literature review of this condition, focusing on its clinical presentation, histological features, immunohistochemical profile, molecular characteristics, and prognosis.