The burden of mental health issues in Behçet's disease: implications for patient quality of life.

INTRODUCTION: Depression and anxiety are among the most prevalent mental health conditions in Brazil. Both are associated with poor quality of life (HRQoL) and challenges in disease management for chronic illnesses, including Behçet's disease (BD). This study aimed to evaluate depression, anxiety, and HRQoL in BD patients from a non-endemic area. RESEARCH DESIGN AND METHODS: This case-control study included adult BD patients from Brazilian tertiary center and healthy controls (HC). All patients fulfilled the ISG and ICBD diagnostic criteria. Depression, anxiety and quality of life were assessed using BDI, HADS, SF-36, and physical capacity with the HAQ. RESULTS: We enrolled 58 BD patients (60% female, median age 48.5) and 96 HC (74% female, median age 40.5). High rates of depression and anxiety were observed in BD patients, correlating with disease activity, younger age, absence of a partner, shorter disease duration, and lower income. BD patients showed significant HRQoL restrictions, particularly in physical and emotional roles, compared to HC. Longer disease duration correlated with better HRQoL. CONCLUSION: High rates of depression and anxiety were observed in BD patients, negatively impacting HRQoL, particularly in those with higher disease activity. Further study and clinical attention are warranted to enhance patient care and outcomes.

Trousseau syndrome preceding the diagnosis of colon cancer.

Trousseau Syndrome (TS) is defined as the occurrence of thromboembolic events prior to or simultaneously with the diagnosis of visceral neoplasia. In cases of multiple thromboembolisms, considering the possibility of TS, a screening for neoplasms may be warranted. We present a case study of a 61-year-old female who presented a neurological deficit. Brain magnetic resonance imaging (MRI) showed multiple hyperintense bihemispheric foci in subcortical and cortical regions involving three different vascular territories in the FLAIR sequence, associated with restricted diffusion inferring cytotoxic edema and indicating that they were all recent ischemic lesions, raising the hypothesis of TS. The patient underwent neoplastic screening with a subsequent diagnosis of colon cancer. TS should be considered when the patient presents thromboembolic events without an established cause. The three-territories-sign (TTS) is an essential radiographic biomarker related to cancer-associated ischemic stroke (CAIS). We propose that our findings be considered for the inclusion of guidelines that determine the investigation of an occult tumor (particularly gastric, pancreatic, lung, and colorectal) in patients who present thrombotic events, especially TTS.

Interaction of MMP-9 in the active phase of Graves' disease with and without ophthalmopathy.

Thyroid eye disease (TED) is expressed as orbital inflammation, and serum levels of several proinflammatory cytokines have been studied among patients with Graves' disease (GD) with and without TED; however, a more sensitive and specific marker for the different phases of GD and TED is still lacking. Seventeen active TED, 16 inactive TED, 16 GD without TED, and 16 healthy controls were recruited. Serum IL-17A, MMP-2, MMP-3, and MMP-9 were measured by multiplex bead assay. TED hormone and eye parameters were evaluated, and their relationship with cytokine levels was analyzed. Serum MMP-9 was higher in active TED than healthy controls, whereas IL-17A was lower among these patients than in GD without TED and healthy controls. No differences were found in MMP-3 and MMP-2 concentrations. MMP-9 levels were lower in patients with inactive TED who underwent radioactive iodine (RAI) therapy and those on levothyroxine replacement. MMP-9 levels were elevated in patients on methimazole. A negative correlation was found between age at assessment and time of follow-up with MMP-9 levels in inactive TED. Free T3 and ophthalmometry values were positively correlated with MMP-9 in the GD without TED and inactive TED groups, respectively. In conclusion, serum MMP-9 was increased in patients with active TED and was related to the RAI treatment, longer follow-up time, and higher ophthalmometry in patients with inactive TED, as well as thyroid function in GD without TED. MMP-9 may be involved in both the active phase of TED and the active phase of inflammation related to GD.NEW & NOTEWORTHY Our study addresses clinical aspects of specific ophthalmological examination and serum cytokine concentrations of patients with Graves' disease (GD) with and without ophthalmopathy. Our findings suggest that MMP-9 may be involved in the active phase of ophthalmopathy and in the active phase of GD. The central question is whether MMP-9 is a potential target for future treatments.

A Rare Case of Pulmonary Artery Trunk Aneurysm.

BACKGROUND: Pulmonary artery trunk aneurysm (PATA) is a rare and complex vascular anomaly characterized by the abnormal dilation of the initial portion of the pulmonary artery, posing significant diagnostic and therapeutic challenges. PURPOSE: This clinical case report aims to describe the follow-up of a patient with PATA, emphasizing the role of imaging in diagnosis and monitoring, as well as discussing potential associations with other conditions. RESEARCH DESIGN: The study is designed as a clinical case report, detailing the longitudinal follow-up of a single patient with PATA. STUDY SAMPLE: The subject of this study is a 48-year-old female patient with a history of idiopathic hypertension who developed a PATA. Data Collection and/or Analysis: Since 2010, the patient underwent various imaging exams, including echocardiography, computed tomography, and catheter angiography, to detect and evaluate the aneurysm at different stages. RESULTS: The imaging results indicated a progression of the aneurysm over time, underscoring the importance of imaging in the early identification and monitoring of PATA. The report also explores the possible association of PATA with conditions such as pulmonary hypertension, Behçet's disease, and Hughes-Stovin syndrome, highlighting the diagnostic complexity. CONCLUSIONS: Imaging diagnosis is crucial for the detection, characterization, and monitoring of PATA, providing essential information for selecting appropriate treatment options and achieving a satisfactory prognosis. An individualized treatment approach, considering both medical and surgical options, is necessary based on the clinical characteristics of each patient.

Hepatosplenic involvement of tuberculosis: an uncommon presentation that demands attention in specific scenarios.

Abdominal tuberculosis (TB), a potential differential diagnosis for acute and chronic abdomen, should be considered in specific situations, such as immunosuppressant or biological drug use, HIV, or in patients residing in endemic areas. Although the presence of thoracic tuberculosis may indicate abdominal TB, only 15% of patients with abdominal TB have evidence of pulmonary disease. Involvement of the liver and spleen is a common autopsy finding in patients with disseminated TB. However, the most common pattern is of fine miliary lesions. Hepatic involvement with a macronodular pattern, a rare occurrence, is linked to dissemination through the portal vein. The splenic macronodular form, an extremely rare presentation, can manifest as solitary or multiple nodules, oval or round, with a variable appearance reflecting different stages of the disease, adding to the uniqueness of this case.

Radiological changes in lead poisoning.

INTRODUCTION: Lead poisoning in childhood remains an important public health concern. We highlight the radiological findings in a patient with a high blood lead concentration. CASE SUMMARY: A 7-year-old girl presented to hospital with abdominal pain, nausea, and asthenia. Laboratory tests showed severe hypochromic microcytic anemia, punctate basophilic stippling of erythrocytes, and a blood lead concentration of 880 µg/L (4.3 µmol/L). IMAGES: Radiographs of the femur, tibia, and fibula demonstrated dense metaphyseal bands ("lead lines"). On cranial computed tomography, we observed multiple speck-like and curvilinear hyperdensities involving subcortical regions, putamen, and left cerebellar hemisphere. CONCLUSION: In patients with lead poisoning, imaging of the brain and bones may show characteristic features. These imaging findings may point to the diagnosis of lead toxicity when these radiographic findings are discovered during the evaluation of vague complaints such as abdominal pain or mental status changes or when a blood lead concentration is not readily available.

Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion.

Background: The chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms. An expanded phenotype was proposed based on additional findings, including one previous report of a patient presenting with moyamoya disease. Case Presentation: The authors report a patient presenting with early neurodevelopmental delay, hydrocephalus, renal malformation, and dysmorphisms. After presenting with a sudden choreic movement disorder, the neuroimaging investigation revealed an ischemic stroke, moyamoya disease, and bilateral incomplete hippocampal inversion. Chromosomal microarray analysis revealed a deletion of 13.2 Mb at 1p31.3p32.2, compatible with the contiguous gene syndrome caused by microdeletions of this region. Discussion/Conclusion: This is the second report of a patient who developed Moyamoya disease and the first to describe bilateral incomplete hippocampal inversion in this microdeletion syndrome.

Role of apparent diffusion map in the evaluation of retinoblastoma.

PURPOSE: This study aimed to analyze the association between magnetic resonance imaging apparent diffusion coefficient map value and histopathological differentiation in patients who underwent eye enucleation due to retinoblastomas. METHODS: An observational chart review study of patients with retinoblastoma that had histopathology of the lesion and orbit magnetic resonance imaging with apparent diffusion coefficient analysis at Hospital de Clínicas de Porto Alegre between November 2013 and November 2016 was performed. The histopathology was reviewed after enucleation. To analyze the difference in apparent diffusion coefficient values between the two major histopathological prognostic groups, Student's t-test was used for the two groups. All statistical analyses were performed using SPSS version 19.0 for Microsoft Windows (SPSS, Inc., Chicago, IL, USA). Our institutional review board approved this retrospective study without obtaining informed consent. RESULTS: Thirteen children were evaluated, and only eight underwent eye enucleation and were included in the analysis. The others were treated with photocoagulation, embolization, radiotherapy, and chemotherapy and were excluded due to the lack of histopathological results. When compared with histopathology, magnetic resonance imaging demonstrated 100% accuracy in retinoblastoma diagnosis. Optic nerve invasion detection on magnetic resonance imaging showed a 66.6% sensitivity and 80.0% specificity. Positive and negative predictive values were 66.6% and 80.0%, respectively, with an accuracy of 75%. In addition, the mean apparent diffusion coefficient of the eight eyes was 0.615 × 103 mm2/s. The mean apparent diffusion coefficient value of poorly or undifferentiated retinoblastoma and differentiated tumors were 0.520 × 103 mm2/s and 0.774 × 103 mm2/s, respectively. CONCLUSION: This study revealed that magnetic resonance imaging is useful in the diagnosis of retinoblastoma and detection of optic nerve infiltration, with a sensitivity of 66.6% and specificity of 80%. Our results also showed lower apparent diffusion coefficient values in poorly differentiated retinoblastomas with a mean of 0.520 × 103 mm2/s, whereas in well and moderately differentiated, the mean was 0.774 × 103 mm2/s.

Amyloidosis: a rare cause of severe acute liver failure.

Gastrointestinal amyloidosis can be primary, more associated with monoclonal plasma cell dyscrasia, or secondary, usually secondary to a tissue-destructive, chronic inflammatory process (such as inflammatory bowel disease, for example) and long-term dialysis. The rare presentation of severe acute liver failure in systemic amyloidosis can make this diagnosis/ management more difficult. Hepatomegaly with signs of diffuse infiltrative disease and periportal involvement associated with thoracic and other abdominal radiological findings in the appropriate clinical context may constitute a diagnostic imaging clue in this challenge.

Intrasellar xanthogranuloma mimicking macroadenoma.

Intracranial xanthogranulomas (XGs) have been found at various sites, but xanthogranuloma of the sellar region is extremely rare. We report about a case of sellar XG in a 34-year-old female. Magnetic resonance imaging showed a solid-cystic mass located at the sella turcica. The cystic component was hyperintense on the T1-weighted image (WI) and T2WI. The solid component was hyperintense on T1WI and hypointense on T2WI. There was peripheral enhancement after gadolinium administration. The diagnosis of cystic macroadenoma was considered before surgery. Final diagnosis of XG was confirmed by histopathological examination after surgical resection. Gross total resection of the lesion was achieved using the microscope through endoscopic endonasal transsphenoidal approach. The patient had a good outcome and no symptom of diabetes insipidus, hormonal evaluation did not show any alterations compatible with hypopituitarism and prolactin levels were normal XG should receive diagnostic consideration for the sellar mass lesions with cystic components hyperintense on T1WI and T2WI, solid components hyperintense on T1WI and hypointense on T2WI, and CT without evidence of calcifications. It is important to consider the possibility of XG when pertinent, as it facilitates a proper surgical approach strategy.

Role of apparent diffusion map in the evaluation of retinoblastoma

ABSTRACT Purpose: This study aimed to analyze the association between magnetic resonance imaging apparent diffusion coefficient map value and histopathological differentiation in patients who underwent eye enucleation due to retinoblastomas. Methods: An observational chart review study of patients with retinoblastoma that had histopathology of the lesion and orbit magnetic resonance imaging with apparent diffusion coefficient analysis at Hospital de Clínicas de Porto Alegre between November 2013 and November 2016 was performed. The histopathology was reviewed after enucleation. To analyze the difference in apparent diffusion coefficient values between the two major histopathological prognostic groups, Student's t-test was used for the two groups. All statistical analyses were performed using SPSS version 19.0 for Microsoft Windows (SPSS, Inc., Chicago, IL, USA). Our institutional review board approved this retrospective study without obtaining informed consent. Results: Thirteen children were evaluated, and only eight underwent eye enucleation and were included in the analysis. The others were treated with photocoagulation, embolization, radiotherapy, and chemotherapy and were excluded due to the lack of histopathological results. When compared with histopathology, magnetic resonance imaging demonstrated 100% accuracy in retinoblastoma diagnosis. Optic nerve invasion detection on magnetic resonance imaging showed a 66.6% sensitivity and 80.0% specificity. Positive and negative predictive values were 66.6% and 80.0%, respectively, with an accuracy of 75%. In addition, the mean apparent diffusion coefficient of the eight eyes was 0.615 × 103 mm2/s. The mean apparent diffusion coefficient value of poorly or undifferentiated retinoblastoma and differentiated tumors were 0.520 × 103 mm2/s and 0.774 × 103 mm2/s, respectively. Conclusion: This study revealed that magnetic resonance imaging is useful in the diagnosis of retinoblastoma and detection of optic nerve infiltration, with a sensitivity of 66.6% and specificity of 80%. Our results also showed lower apparent diffusion coefficient values in poorly differentiated retinoblastomas with a mean of 0.520 × 103 mm2/s, whereas in well and moderately differentiated, the mean was 0.774 × 103 mm2/s.