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1.
Int J Surg Case Rep ; 121: 109903, 2024 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-38909388

RESUMO

INTRODUCTION AND IMPORTANCE: Hand metastases are notably rare, comprising around 0.1% of all metastatic diseases, mainly originating from lung cancer, which is responsible for 30-40% of such cases. This report highlights a rare occurrence of distal phalangeal metastasis in a patient with Lynch syndrome, underscoring the diagnostic challenges associated with hand metastases. CASE PRESENTATION: A 70-year-old male diagnosed with Lynch syndrome 35 years ago, following colon adenocarcinoma, presented with severe inflammatory lesions on his right index finger. Patient had previous liver segmentectomies to remove metastatic lesions and had multiple cutaneous squamous cell carcinomas in various regions. Recent diagnostics, including a chest CT, identified a thoracic mass suggestive of squamous cell lung carcinoma. Histopathological analysis confirmed the metastasis of lung cancer to the index finger, necessitating a transphalangeal amputation. CLINICAL DISCUSSION: Hand metastases are extremely infrequent, often mimicking other conditions and requiring a high index of suspicion for accurate diagnosis. This case reinforces the lung as a frequent origin of hand metastases and the significance of elevated EGFR expression in facilitating metastatic spread. CONCLUSION: The rarity of hand metastasis in patients with genetic predispositions like Lynch syndrome calls for heightened vigilance and an integrated management approach. It highlights the critical role of histopathology in diagnosis and the need to consider genetic factors in treatment planning. Further research is encouraged to understand the mechanisms enabling certain cancers to metastasize to the hand and the role of genetic conditions in these processes.

2.
Medicine (Baltimore) ; 102(31): e34490, 2023 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-37543830

RESUMO

RATIONALE: Osteoid osteoma is a relatively common benign bone-forming lesion that often occurs in young adults with a predilection for the lower limbs and spine. It is characterized by the formation of osteoid tissue, a precursor to bone, and can cause pain and restricted mobility in affected areas. Osteoid osteoma of the hand and fingers is rare, thus representing a diagnostic challenge. A written informed consent was provided from the patient's father for the publication and sharing all images and clinical data concerning the patient. PATIENT CONCERNS: We are reporting a case of an 11-year-old girl who presented with persistent pain and swelling in her left index finger, as well as limited mobility, over the course of 1 year. Nonsteroidal anti-inflammatory drugs eased the pain, but it resurfaced once the medication was discontinued. DIAGNOSES: A series of investigations, showed a lytic lesion at the second proximal phalangeal neck, with features indicative of osteoid osteoma. INTERVENTIONS: Excision with bone grafting was performed as definitive therapy with pathological confirmation of the osteoid osteoma diagnosis. Nevertheless, the patient returned 2 years later with a recurrence of her previous symptoms, and further tests suggested a recurrence of osteoid osteoma. To address the recurrence, a modified open thermoablation technique was used. Thermoablation is a minimally invasive procedure that uses heat to destroy the tumor cells, and it has been shown to be effective in treating osteoid osteoma. The modified open approach involves making a small incision to access the tumor and delivering heat directly through a previously CT-guided inserted Kirschner wire to the affected area. OUTCOMES: The patient reported no pain at 1 month and 1 year after the surgery, with no radiological signs of recurrence, indicating complete excision of the lesion. LESSONS: Overall, this case highlights the challenges of diagnosing and treating osteoid osteoma in the hands and fingers. Further research is needed to better understand the underlying causes, potential risk factors, and optimal treatment for osteoid osteoma recurrence.


Assuntos
Neoplasias Ósseas , Osteoma Osteoide , Humanos , Feminino , Adulto Jovem , Criança , Osteoma Osteoide/diagnóstico por imagem , Osteoma Osteoide/cirurgia , Neoplasias Ósseas/cirurgia , Neoplasias Ósseas/diagnóstico por imagem , Dor/etiologia , Radiografia , Dedos/patologia
3.
Int J Mol Sci ; 19(12)2018 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-30518157

RESUMO

Breast cancer (BC) is the most common cancer in women worldwide and remains a major cause of mortality with an expected 137,000 death this year in Europe. Standard management of metastatic BC comprises hormonotherapy, chemotherapy, and targeted therapies. Cyclin dependent kinase (CDK) and mammalian target of rapamycin (mTOR) inhibitors have recently proved their efficiency in hormonal receptor expressing BC. Checkpoint proteins inhibition is being evaluated in phase 3 studies. Since inflammation is constantly present in cancers, research teams have focused their attention on the interleukin-17 (IL-17) family of proinflammatory cytokines. Preclinical experiments have reported both pro and antitumor effects depending on the conditions. In the present article, we review the accumulating evidences about the roles of IL-17 in BC and discuss whether this family of cytokines could be a new target in anticancer treatments.


Assuntos
Neoplasias da Mama/metabolismo , Interleucina-17/metabolismo , Animais , Feminino , Humanos , Modelos Biológicos , Transdução de Sinais
4.
Biochim Biophys Acta Mol Basis Dis ; 1863(6): 1242-1254, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28366874

RESUMO

High myopia (HM) is one of the main causes of visual impairment and blindness all over the world and an unsolved medical problem. Persons with HM are predisposed to other eye pathologies such as retinal detachment, myopic retinopathy or glaucomatous optic neuropathy, complications that may at least partly result from the extensive liquefaction of the myopic vitreous gel. To identify the involvement of the liquid vitreous in the pathogenesis of HM we here analyzed the vitreous of the recently described highly myopic low density lipoprotein receptor-related protein 2 (Lrp2)-deficient eyes. Whereas the gel-like fraction was not apparently modified, the volume of the liquid vitreous fraction (LVF) was much higher in the myopic eyes. Biochemical and proteome analysis of the LVF revealed several modifications including a marked decrease of potassium, sodium and chloride, of proteins involved in ocular tissue homeostasis and repair as well as of ADP-ribosylation factor 4 (ARF4), a protein possibly involved in LRP2 trafficking. A small number of proteins, mainly comprising known LRP2 ligands or proteins of the inflammatory response, were over expressed in the mutants. Moreover the morphology of the LRP2-deficient retinal pigment epithelium (RPE) cells was affected and the expression of ARF4 as well as of proteins involved in degradative endocytosis was strongly reduced. Our results support the idea that impairment of the RPE structure and most likely endocytic function may contribute to the vitreal modifications and pathogenesis of HM.


Assuntos
Miopia/metabolismo , Epitélio Pigmentado da Retina/metabolismo , Corpo Vítreo/metabolismo , Fatores de Ribosilação do ADP/genética , Fatores de Ribosilação do ADP/metabolismo , Animais , Fatores de Transcrição Forkhead/genética , Fatores de Transcrição Forkhead/metabolismo , Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade/metabolismo , Camundongos , Camundongos Transgênicos , Miopia/genética , Miopia/patologia , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Epitélio Pigmentado da Retina/patologia , Corpo Vítreo/patologia
5.
PLoS One ; 10(6): e0129518, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26107939

RESUMO

Myopia is a common ocular disorder generally due to increased axial length of the eye-globe. Its extreme form high myopia (HM) is a multifactorial disease leading to retinal and scleral damage, visual impairment or loss and is an important health issue. Mutations in the endocytic receptor LRP2 gene result in Donnai-Barrow (DBS) and Stickler syndromes, both characterized by HM. To clearly establish the link between Lrp2 and congenital HM we inactivated Lrp2 in the mouse forebrain including the neural retina and the retinal and ciliary pigment epithelia. High resolution in vivo MRI imaging and ophthalmological analyses showed that the adult Lrp2-deficient eyes were 40% longer than the control ones mainly due to an excessive elongation of the vitreal chamber. They had an apparently normal intraocular pressure and developed chorioretinal atrophy and posterior scleral staphyloma features reminiscent of human myopic retinopathy. Immunomorphological and ultrastructural analyses showed that increased eye lengthening was first observed by post-natal day 5 (P5) and that it was accompanied by a rapid decrease of the bipolar, photoreceptor and retinal ganglion cells, and eventually the optic nerve axons. It was followed by scleral thinning and collagen fiber disorganization, essentially in the posterior pole. We conclude that the function of LRP2 in the ocular tissues is necessary for normal eye growth and that the Lrp2-deficient eyes provide a unique tool to further study human HM.


Assuntos
Corpo Ciliar/metabolismo , Fatores de Transcrição Forkhead/metabolismo , Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade/metabolismo , Miopia Degenerativa/genética , Proteínas do Tecido Nervoso/metabolismo , Retina/metabolismo , Epitélio Pigmentado da Retina/metabolismo , Animais , Axônios/metabolismo , Proliferação de Células , Modelos Animais de Doenças , Fatores de Transcrição Forkhead/genética , Genótipo , Pressão Intraocular , Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Imageamento por Ressonância Magnética , Camundongos , Camundongos Knockout , Microscopia Eletrônica de Transmissão , Mutação , Proteínas do Tecido Nervoso/genética , Nervo Óptico/metabolismo , Fenótipo , Prosencéfalo/metabolismo , Retina/embriologia , Células Ganglionares da Retina/metabolismo , Epitélio Pigmentado da Retina/embriologia , Esclera/patologia
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