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1.
Cureus ; 16(4): e57903, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38725792

RESUMO

Vascular tumors of the breast are rare, but benign hemangiomas are the most common type. Capillary hemangiomas are a subset of benign vascular tumors that involve smaller vessel sizes. They are difficult to diagnose with mammography and ultrasound, as they lack pathognomonic features and are frequently not seen. MRI is the most sensitive imaging tool. The lesions appear similar to angiosarcoma or ductal carcinoma in situ on imaging, which further complicates the diagnosis. A biopsy of the lesions is required for a definitive diagnosis. In this report, a 49-year-old female with newly diagnosed breast cancer is incidentally found to have a capillary hemangioma on staging breast MRI that was confirmed with a biopsy and excised along with the primary breast cancer with a partial mastectomy. The imaging findings of breast hemangioma on mammography, ultrasound, and MRI are also reviewed and described in this report.

3.
Nature ; 627(8004): 628-635, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38383790

RESUMO

Interleukin-10 (IL-10) is a key anti-inflammatory cytokine that can limit immune cell activation and cytokine production in innate immune cell types1. Loss of IL-10 signalling results in life-threatening inflammatory bowel disease in humans and mice-however, the exact mechanism by which IL-10 signalling subdues inflammation remains unclear2-5. Here we find that increased saturated very long chain (VLC) ceramides are critical for the heightened inflammatory gene expression that is a hallmark of IL-10 deficiency. Accordingly, genetic deletion of ceramide synthase 2 (encoded by Cers2), the enzyme responsible for VLC ceramide production, limited the exacerbated inflammatory gene expression programme associated with IL-10 deficiency both in vitro and in vivo. The accumulation of saturated VLC ceramides was regulated by a decrease in metabolic flux through the de novo mono-unsaturated fatty acid synthesis pathway. Restoring mono-unsaturated fatty acid availability to cells deficient in IL-10 signalling limited saturated VLC ceramide production and the associated inflammation. Mechanistically, we find that persistent inflammation mediated by VLC ceramides is largely dependent on sustained activity of REL, an immuno-modulatory transcription factor. Together, these data indicate that an IL-10-driven fatty acid desaturation programme rewires VLC ceramide accumulation and aberrant activation of REL. These studies support the idea that fatty acid homeostasis in innate immune cells serves as a key regulatory node to control pathologic inflammation and suggests that 'metabolic correction' of VLC homeostasis could be an important strategy to normalize dysregulated inflammation caused by the absence of IL-10.


Assuntos
Inflamação , Interleucina-10 , Esfingolipídeos , Animais , Humanos , Camundongos , Ceramidas/química , Ceramidas/metabolismo , Ácidos Graxos Insaturados/biossíntese , Ácidos Graxos Insaturados/metabolismo , Homeostase , Imunidade Inata , Inflamação/genética , Inflamação/metabolismo , Inflamação/patologia , Interleucina-10/deficiência , Interleucina-10/genética , Interleucina-10/metabolismo , Proteínas Proto-Oncogênicas c-rel , Esfingolipídeos/metabolismo
4.
Nat Cell Biol ; 26(2): 278-293, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38302721

RESUMO

Lipids are indispensable for energy storage, membrane structure and cell signalling. However, dynamic changes in various categories of endogenous lipids in mammalian early embryonic development have not been systematically characterized. Here we comprehensively investigated the dynamic lipid landscape during mouse and human early embryo development. Lipid signatures of different developmental stages are distinct, particularly for the phospholipid classes. We highlight that the high degree of phospholipid unsaturation is a conserved feature as embryos develop to the blastocyst stage. Moreover, we show that lipid desaturases such as SCD1 are required for in vitro blastocyst development and blastocyst implantation. One of the mechanisms is through the regulation of unsaturated fatty-acid-mediated fluidity of the plasma membrane and apical proteins and the establishment of apical-basal polarity during development of the eight-cell embryo to the blastocyst. Overall, our study provides an invaluable resource about the remodelling of the endogenous lipidome in mammalian preimplantation embryo development and mechanistic insights into the regulation of embryogenesis and implantation by lipid unsaturation.


Assuntos
Metabolismo dos Lipídeos , Lipidômica , Gravidez , Humanos , Feminino , Camundongos , Animais , Embrião de Mamíferos/metabolismo , Desenvolvimento Embrionário/fisiologia , Blastocisto/metabolismo , Fosfolipídeos/metabolismo , Mamíferos
5.
Cureus ; 15(11): e48114, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38046750

RESUMO

Primary malignant melanoma of the breast (PMMB) is an extremely rare lesion that carries a poor prognosis. Therefore, it is crucial to examine the patient's medical history, clinical presentation, and histopathology considering this diagnosis. The rarity of this lesion has made it difficult to identify classic presentations or specific treatment guidelines. Staining for specific biomarkers can be helpful for diagnosis in the absence of melanin pigment on histology. Additional molecular studies to determine gene status can also be useful for targeted immunotherapy and increased survival time for patients. In this paper, we introduce a rare case of PMMB without skin involvement presenting as a solitary breast mass in a male and explore the radiology, histology, evaluation, and treatment options.

6.
Cureus ; 15(10): e47673, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38021664

RESUMO

Phyllodes tumor (PT) is a rare tumor that can present as benign, borderline, or malignant. These tumors arise from the breast stroma, similar to fibroadenomas. Phyllodes tumors and fibroadenomas often have overlapping features in both radiological imaging and pathologic analysis. As a result, these two lesions are often difficult to differentiate and require the correlation of multiple modalities, including clinical context, radiologic imaging, and histological evaluation. This article presents a case of a borderline phyllodes tumor in a 51-year-old female, with the inclusion of its radiologic and pathologic images and performed treatment. The goal of this article is to provide a review of the clinical presentation, diagnostic imaging and pathology features, treatment, and management of a phyllodes tumor and compare and contrast this against the more common fibroadenomas, in order to provide aid for differentiating these two breast lesions.

7.
iScience ; 26(9): 107558, 2023 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-37664623

RESUMO

LINC00116 encodes a microprotein first identified as Mitoregulin (MTLN), where it was reported to localize to the inner membrane of mitochondria to regulate fatty acid oxidation and oxidative phosphorylation. These initial discoveries were followed by reports with differing findings about its molecular functions and submitochondrial localization. To clarify the apparent discrepancies, we constructed multiple orthogonal methods of determining the localization of MTLN, including split GFP-based reporters that enable efficient and reliable topology analyses for microproteins. These methods unequivocally demonstrate MTLN primarily localizes to the outer membrane of mitochondria, where it interacts with enzymes of fatty acid metabolism including CPT1B and CYB5B. Loss of MTLN causes the accumulation of very long-chain fatty acids (VLCFAs), especially docosahexaenoic acid (DHA). Intriguingly, loss of MTLN protects mice against western diet/fructose-induced insulin-resistance, suggests a protective effect of VLCFAs in this context. MTLN thus serves as an attractive target to control the catabolism of VLCFAs.

8.
Braz J Med Biol Res ; 56: e12746, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37703108

RESUMO

Leptin and interleukin-1 beta (IL-1ß) are two extensively studied biomarkers associated with metabolic syndrome (MetS) and osteoarthritis (OA). Previous studies have mostly focused on either MetS or OA alone, with no available data on Vietnamese patients. This study aimed to investigate the levels of leptin and IL-1ß in this patient population and explore their association with clinical parameters of MetS and OA. The study included 164 patients with primary knee OA, who were classified into two categories based on the presence of MetS, and 78 healthy controls. The plasma leptin and IL-1ß levels were quantified by ELISA and correlated with clinical parameters. Leptin levels were higher in patients with OA (11.50±10.04 ng/mL) than in healthy controls (0.54±0.37 ng/mL) and increased in patients with MetS compared to those without MetS. IL-1ß levels were also significantly higher in OA patients (14.63±15.87 pg/mL) than in controls (7.79±5.11 pg/mL), but were not significantly different between the MetS and non-MetS groups. Leptin levels were positively correlated with body mass index, waist-to-hip ratio, visual analogue scale scores, HbA1c and insulin levels, and HOMA-IR index, whereas IL-1ß levels were only correlated with insulin levels and HOMA-IR index. ROC curve analysis revealed that leptin and IL-1ß levels could distinguish individuals with and without OA (AUC=0.96; 0.88, respectively), and individuals with and without MetS (AUC=0.82; 0.71, respectively). Our findings suggested that both leptin and IL-1ß levels were associated with both MetS and OA and may play a critical role in the pathogenesis of MetS-related OA.


Assuntos
Insulinas , Síndrome Metabólica , Osteoartrite do Joelho , Humanos , Estudos Transversais , Interleucina-1beta , Leptina , População do Sudeste Asiático
9.
Cureus ; 15(4): e38225, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37252610

RESUMO

Male breast cancer is far less common compared to female breast cancer. Paget's disease of the breast (PDB) is a rare disease, making it even rarer in men. It often presents with eczematous patches over the nipple and areola region, mimics benign dermatological conditions, and can result in a greatly delayed diagnosis. This report presents a rare case of PDB in a 70-year-old male and includes a review of its clinical presentation, radiographic findings, histology, carcinogenic potential, and management.

10.
Haemophilia ; 29(4): 1024-1031, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37228173

RESUMO

BACKGROUND: The overall burden of disease in persons with haemophilia continues to be high despite the latest advancements in therapeutics. Clinical trials testing prenatal treatments for several genetic disorders are underway or are recruiting subjects, attesting to the much-needed change in paradigm of how patients with monogenic disorders can be treated. Here we investigate the overall attitude towards prenatal diagnosis, preferences on types of prenatal therapies for haemophilia, the level of 'acceptable' risk tolerated, and which social and moral pressures or disease personal experiences may predict willingness of individuals to consider foetal therapy in a future pregnancy. RESULTS: A multidisciplinary team designed the survey, and the study was carried out using REDCap, and publicized through the National Haemophilia Foundation. Subjects ≥18 years of age were eligible to participate in the study. We assessed participants' attitudes towards prenatal therapy and their level of 'acceptable' risk towards the procedure and therapy. The survey was completed by 67 adults, the majority females. Respondents were willing to undergo prenatal diagnosis, and their main concerns related to the well-being of the pregnant woman and the foetus regarding lasting therapeutic efficacy, side effects of the therapy, and procedural risks, but they were likely to accept a wide range of prenatal therapeutic options, particularly if the foetal therapy proved to be long-lasting and safe. CONCLUSIONS: These data demonstrate the willingness of persons with haemophilia, and the haemophilia community, to explore new treatment options beyond the currently offered approaches.


Assuntos
Hemofilia A , Gravidez , Adulto , Feminino , Humanos , Hemofilia A/diagnóstico , Hemofilia A/terapia , Hemofilia A/genética , Diagnóstico Pré-Natal , Inquéritos e Questionários
11.
Cureus ; 15(4): e37829, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37214075

RESUMO

Mucocele-like lesions (MLLs) of the breast are rare neoplasms characterized by dilated, mucin-filled epithelial ducts or cysts that can rupture and expel their contents into the surrounding stroma. They are frequently associated with atypia, dysplastic change, and, more recently, pre-malignant and malignant conditions like atypical ductal hyperplasia, ductal carcinoma, invasive carcinoma, or mucinous carcinoma. The malignant potential of MLLs is often challenging to determine from the initial histologic evaluation of a core-needle biopsy due to copious mucin and low cellularity. Therefore, at initial presentation, MLLs should be surgically excised and thoroughly evaluated for malignancy. In this paper, we present a rare case of an MLL and explore the radiology, histology, carcinogenic potential, diagnostic evaluation, and suggested management of the condition.

12.
Cureus ; 15(3): e36292, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37073209

RESUMO

Fibrocystic changes (FCCs) are common, often benign, breast lesions characterized by adenosis, fibrosis, and cyst formation. These changes are believed to be associated with fluctuating hormone levels and are predominantly found in premenopausal women due to higher levels of estrogen. Certain conditions that cause hormonal imbalances, such as polycystic ovarian syndrome, have also been associated with an increased risk of FCCs. FCCs can occur in postmenopausal women on hormonal replacement therapy but are otherwise extremely rare. Although this condition is primarily considered benign, complex cysts presenting in a rare demographic warrant further evaluation beyond screening mammograms to exclude the possibility of malignancy. In this paper, we present the case of new FCCs in a postmenopausal woman and explore the radiology, histology, carcinogenic potential, treatment options, and potential contributing factors of the condition.

13.
Work Occup ; 50(1): 3-21, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38603256

RESUMO

While precarious employment is not a new concept, it has been brought to the center of scholarly and public discourse worldwide by the unprecedented COVID-19 pandemic. This essay delineates how precarious employment shapes well-being and situates that relationship in the context of the COVID-19 pandemic. The essay also provides an overview of how the nine articles boldly investigate how these two layers of global risk-precarious employment and the pandemic-interact to shape individuals' well-being. In addition to advancing theoretical and empirical knowledge by analyzing timely data from diverse sources and populations, these articles call for more efforts on worker protection reforms and government financial support.

14.
Braz. j. med. biol. res ; 56: e12746, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1505873

RESUMO

Leptin and interleukin-1 beta (IL-1β) are two extensively studied biomarkers associated with metabolic syndrome (MetS) and osteoarthritis (OA). Previous studies have mostly focused on either MetS or OA alone, with no available data on Vietnamese patients. This study aimed to investigate the levels of leptin and IL-1β in this patient population and explore their association with clinical parameters of MetS and OA. The study included 164 patients with primary knee OA, who were classified into two categories based on the presence of MetS, and 78 healthy controls. The plasma leptin and IL-1β levels were quantified by ELISA and correlated with clinical parameters. Leptin levels were higher in patients with OA (11.50±10.04 ng/mL) than in healthy controls (0.54±0.37 ng/mL) and increased in patients with MetS compared to those without MetS. IL-1β levels were also significantly higher in OA patients (14.63±15.87 pg/mL) than in controls (7.79±5.11 pg/mL), but were not significantly different between the MetS and non-MetS groups. Leptin levels were positively correlated with body mass index, waist-to-hip ratio, visual analogue scale scores, HbA1c and insulin levels, and HOMA-IR index, whereas IL-1β levels were only correlated with insulin levels and HOMA-IR index. ROC curve analysis revealed that leptin and IL-1β levels could distinguish individuals with and without OA (AUC=0.96; 0.88, respectively), and individuals with and without MetS (AUC=0.82; 0.71, respectively). Our findings suggested that both leptin and IL-1β levels were associated with both MetS and OA and may play a critical role in the pathogenesis of MetS-related OA.

15.
Zhonghua Liu Xing Bing Xue Za Zhi ; 43(11): 1753-1760, 2022 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-36444458

RESUMO

Objective: To analyze the epidemiology and spatial-temporal distribution characteristics of hand, foot and mouth disease (HFMD) in Shanxi province. Methods: The data of HFMD in Shanxi province from 2009 to 2020 were collected from notifiable disease management information system of Chinese information system for disease control and prevention and analyzed by descriptive epidemiology, Joinpoint regression, spatial autocorrelation analysis and spatio- temporal scanning analysis. Results: A total of 293 477 HFMD cases were reported in Shanxi province from 2009 to 2020, with an average annual incidence of 67.64/100 000 (293 477/433 867 454), severe disease rate of 5.36/100 000 (2 326/433 867 454), severe disease ratio of 0.79%(2 326/293 477), mortality of 0.015/100 000 (66/433 867 454), and fatality rate of 22.49/100 000 (66/293 477). The reported incidence rate, severe disease rate, mortality rate and fatality rate of HFMD showed decreasing trends. The main high-risk groups were scattered children and kindergarten children aged 0-5. The incidence of HFMD had obvious seasonal variation, with two peaks every year: the main peak was during June-July, the secondary peak was during September-October and the peak period is from April to November. A total of 13 942 laboratory cases were confirmed, with a diagnosis rate of 4.75% (13 942/293 477), including 4 438 (35.11%, 4 438/293 477) Enterovirus A71 (EV-A71) positive cases, 4 609 (33.06%, 4 609/293 477) Coxsackievirus A16 (CV-A16) positive cases, and 4 895 (31.83%, 4 895/293 477) other enterovirus positive cases. There was a spatial positive correlation (Moran's I ranged from 0.12 to 0.58, all P<0.05) and the spatial clustering was obvious. High-risk regions were mainly distributed in Taiyuan in central Shanxi province, Linfen and Yuncheng in southern Shanxi province, and Changzhi in southeastern Shanxi province. Spatial-temporal scanning analysis revealed 1 the most likely cluster and 8 secondary likely clusters, of which the most likely cluster (RR=2.65, LLR=22 387.42, P<0.001) located in Taiyuan and Jinzhong city, Shanxi province, including 12 counties (districts), and accumulated from April 1, 2009 to November 30, 2018. Conclusions: There was obvious spatial-temporal clustering of HFMD in Shanxi province, and the epidemic situation was in decline. The key areas were the districts in urban areas and the counties adjacent to it. Meanwhile, the monitoring and classification of other enterovirus types of HFMD should be strengthened.


Assuntos
Infecções por Enterovirus , Doença de Mão, Pé e Boca , Criança , Humanos , Doença de Mão, Pé e Boca/epidemiologia , Análise Espacial , Análise Espaço-Temporal , Análise por Conglomerados
16.
Cureus ; 14(9): e29365, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36284818

RESUMO

Background Breast augmentation with silicone implants is commonplace, and such implants have a risk of rupture which increases over time. Most implant ruptures are asymptomatic, and magnetic resonance imaging (MRI) is a recommended imaging modality for surveillance to detect these events. If a silicone leak enhances on MRI, it is currently categorized according to the Breast Imaging Reporting and Data System (BI-RADS) as category 4, which results in a recommendation for biopsy even when free silicone leakage is the most likely diagnosis. In this article, we present a case series that illustrates this issue with the BI-RADS system and propose an algorithmic approach that may allow some patients to be placed into BI-RADS category 3 and avoid biopsy. Methodology Eight cases of silicone breast implant rupture were identified at the University of Texas Medical Branch at Galveston over a five-year period. Two cases were excluded because MRI was not performed. The remaining six cases were evaluated for history and physical findings as well as mammogram, ultrasound, and MRI. All identified cases had been categorized as BI-RADS 4 and underwent biopsy. Results The six cases in this series exhibited pre-biopsy radiographic findings that were most consistent with silicone implant rupture. The ruptures were proven by biopsy, and no evidence of malignancy was identified in any of the patients. Conclusions Free silicone from breast implant rupture can present with enhancement on MRI. The two main categories of breast MRI enhancement, namely, mass and non-mass, include malignancies in their differential diagnoses and result in a BI-RADS category 4 designation. By correlating the findings with other imaging modalities, some of these patients can be classified as BI-RADS category 3 and biopsy can safely be avoided.

17.
Cureus ; 14(8): e28504, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36185853

RESUMO

Intracystic papillary carcinoma (IPC) of the breast is a rare form of in-situ carcinoma, which is contained within a dilated duct. Mammography and ultrasound may provide clues to its presence, but formal diagnosis always requires histologic evidence. Although IPC is associated with an excellent prognosis, surgical resection is important in order to rule out the possibility of any invasive component, which would result in the need for more aggressive treatment. In this paper, we review the radiographic and histologic features of this interesting diagnosis, present a patient case, and explore the possible reason why IPC does not require the same treatment modalities as the more common ductal carcinoma in situ (DCIS).

18.
Cureus ; 14(7): e27076, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36000143

RESUMO

Tubular adenoma (TA) of the breast is a rare, benign proliferative breast lesion that is predominantly composed of closely compacted tubules with an inner layer of epithelial cells and an outer layer of myoepithelial cells. They are regarded as residing on the opposite end of a spectrum of proliferative breast lesions from fibroadenomas, which are predominantly stromal. The majority of TAs are found in premenopausal women and the reason for this demographic predilection is not yet known. It is generally not possible to distinguish between TA and other, higher-risk breast lesions prior to biopsy or resection because the clinical and radiographic findings overlap. In this article, we present the case of a TA in a postmenopausal patient and review the epidemiology, histology, carcinogenic potential, and management of such lesions.

19.
Cureus ; 14(5): e25526, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35800798

RESUMO

Previously believed to be an exaggerated immune response and not a lymphoma, angioimmunoblastic T-cell lymphoma (AITL) is now recognized as a rare variant of peripheral T-cell lymphoma with an aggressive clinical course and poor response to current therapies. There is no standard of care for treatment, but the identification of extranodal involvement is useful for prognostic purposes since the involvement of more than one extranodal site can escalate the patient's risk category on the International Prognostic Index (IPI). Here we present the case of a patient with AITL who initially presented with an extranodal disease in the form of a fluorodeoxyglucose (FDG)-avid subcutaneous nodule and probable involvement of the spleen. After two months of treatment, her lymphoma exhibited an escalation of grade and an extensive worsening of Epstein-Barr virus (EBV) positivity.

20.
Am J Ophthalmol Case Rep ; 27: 101585, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35664449

RESUMO

Purpose: Neurotrophic keratopathy is a degenerative disease characterized by damage to the corneal nerves leading to corneal hypoesthesia and anaesthesia. The resultant progressive visual deterioration is refractory to existing conventional treatment options. Corneal neurotization is a novel and effective surgical procedure that directly targets the underlying pathology of nerve loss by stimulating new corneal nerve growth. This study reports the outcomes and the pre- and postoperative in vivo confocal microscopy findings of the first published Australian case of indirect, minimally invasive, corneal neurotization using an ipsilateral sural nerve autograft. Observations: An 11-year-old boy developed corneal hypoesthesia in the left eye following surgical debulking of a cerebellopontine angle arachnoid cyst. He was diagnosed with Mackie Stage 1 neurotrophic keratopathy. Due to his hypoesthesia, he had developed recurrent microbial keratitis and corneal ulceration secondary to foreign bodies sustained during contact sports. At presentation, he reported photophobia and dry eye symptoms, corrected-distance visual acuity was 6/18, Cochet-Bonnet aesthesiometer demonstrated reduced corneal sensation (5-15mm), Schirmer's I test was 15mm, and in vivo confocal microscopy showed a complete absence of a subepithelial corneal plexus. He underwent indirect, minimally invasive, corneal neurotization using the ipsilateral supratrochlear nerve and a sural nerve autograft. Subjective improvement in corneal sensation was noticed by the patient at 2 months. Objective improvement, measured on Cochet-Bonnet aesthesiometer, was first observed at 6 months with steady stepwise improvement to 20-35mm at 21 months. Importantly, due to the increase in corneal sensation, the patient did not develop any further corneal complications. At 12 months, dry eye symptoms resolved and Schirmer's I test improved to 30mm. At 15 months, corrected-distance visual acuity improved to 6/5 and in vivo confocal microscopy demonstrated evidence of corneal reinnervation with nerves running through the subepithelial space surrounded by healthy and active keratocytes. Conclusions and importance: Corneal neurotization represents an exciting development in the armamentarium for the treatment of neurotrophic keratopathy and can be considered for younger patients with early-stage disease.

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