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1.
Orphanet J Rare Dis ; 15(1): 228, 2020 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-32867855

RESUMO

During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the "COVID-19 Helpline for Rare Bone Diseases" in an attempt to provide high-quality information and expertise on rare bone diseases remotely to patients and healthcare professionals. The present position statement describes the key characteristics of the Helpline initiative, along with the main aspects and topics that recurrently emerged as central for rare bone diseases patients and professionals. The main topics highlighted are general recommendations, pulmonary complications, drug treatment, trauma, pregnancy, children and elderly people, and patient associations role. The successful experience of the "COVID-19 Helpline for Rare Bone Diseases" launched in Italy could serve as a primer of gold-standard remote care for rare bone diseases for the other European countries and globally. Furthermore, similar COVID-19 helplines could be considered and applied for other rare diseases in order to implement remote patients' care.


Assuntos
Betacoronavirus , Doenças Ósseas/complicações , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Doenças Raras/complicações , Consulta Remota/normas , Idoso , Algoritmos , Doenças Ósseas/terapia , Criança , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/terapia , Feminino , Humanos , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Pneumonia Viral/terapia , Gravidez , Doenças Raras/terapia , Ferimentos e Lesões
2.
Tokai J Exp Clin Med ; 45(3): 121-125, 2020 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-32901899

RESUMO

Clear cell carcinoma is an extremely rare low-grade malignancies occurring in less than 1% of salivary gland tumors. We report a case of clear cell carcinoma of the hard palate in a 15-year-old adolescent patient. She first noticed a palatal tumor at age 9, but the tumor was left untreated for 6 years. We performed incisional biopsy, but no definitive diagnosis was obtained. Excisional biopsy was then performed, and the histopathological diagnosis was clear cell carcinoma of the salivary gland. However, the tumor was exposed at the margin of the surgical specimen; thus, additional excision was performed. Five years after the treatment, no local recurrence or metastasis has been observed.


Assuntos
Carcinoma/diagnóstico , Carcinoma/patologia , Palato , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Adolescente , Biópsia , Feminino , Humanos , Margens de Excisão , Palato/patologia , Doenças Raras , Resultado do Tratamento
3.
J Bras Nefrol ; 42(2 suppl 1): 36-40, 2020 Aug 26.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32877497

RESUMO

During the Covid-19 pandemic, the issue is how to maintain adequate care for people with other diseases. In this document, the SBN Rare Diseases Committee (COMDORA) gives some guidelines on the care of patients with rare kidney diseases. These patients should follow the recommendations for the general population, bearing in mind that, as they have chronic kidney disease, they are included in the risk group for more serious outcomes if they develop Covid-19. Non-essential decision-making procedures should be postponed. In stable cases under appropriate treatment, we must choose to contact our patients remotely, using teleconsultations and home exam collections (if possible). In the presence of a symptom or sign of decompensation of the underlying disease, or infection with Sars-cov-2, advise the patient to seek medical assistance. The patient should not be waiting to get worse. Changes to the prescription should only be made on a scientific basis. Dosage suspension or change is not recommended, even in cases in which the patient needs to go to a center to receive his medication; in this case, the infusion center must follow the recommendations of the Ministry of Health. If the patient develops Covid-19 and uses any drugs, check the need for dose adjustment of the routine medications. Avoid the use of antimetabolics and anti-CD20 in patients with Covid-19, as they reduce viral clearance and predispose to bacterial infections. Contact between the patient and the medical team is essential; changes are recommended only with specialized medical guidance.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Nefropatias/terapia , Pneumonia Viral/epidemiologia , Doenças Raras/terapia , Brasil , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/tratamento farmacológico , Interações Medicamentosas , Humanos , Pandemias , Aceitação pelo Paciente de Cuidados de Saúde , Pneumonia Viral/diagnóstico , Pneumonia Viral/tratamento farmacológico , Avaliação de Sintomas
5.
Anticancer Res ; 40(10): 5853-5860, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32988915

RESUMO

BACKGROUND/AIM: The optimal treatment sequencing for asymptomatic de novo metastatic rectal cancer is unclear. The aim of this study was to investigate the role of upfront radiotherapy, with or without chemotherapy on risk for local complications, in patients with asymptomatic advanced metastatic rectal cancer treated with palliative intention. PATIENTS AND METHODS: All patients with de novo metastatic rectal cancer diagnosed between January 2008 and December 2017 in two healthcare regions in Sweden (Örebro län, Sörmland) were identified and data were extracted from electronic medical records. Patients were divided into 3 groups based on treatment sequence: upfront radiotherapy, upfront chemotherapy, and only palliative surgery. RESULTS: In total, 102 patients were included in the study cohort, 30 patients in upfront radiotherapy group, 54 in upfront chemotherapy, and 18 in only palliative surgery group. Patients with only upfront CT [odds ratio (OR)= 5.10; 95% confidence interval (CI)=1.24-20.91, p=0.024] had a higher risk to suffer from a local complication compared to those who received upfront radiotherapy. Cause-specific Cox regression analysis among patients who received oncological therapy revealed that female patients [cause-specific hazard ratio (csHR)=3.61; 95% confidence interval (CI)=1.67-7.81] and upfront chemotherapy [csHR=1.85; 95% CI=1.11-3.77] were associated with increased cumulative incidence of local complication over time, whereas primary surgery with ostomy or stent with lower risk [csHR=0.45; 95% CI=0.21-0.99]. CONCLUSION: Patients who received upfront radiotherapy, with or without chemotherapy, had fewer local complications due to primary tumor compared to patients who only received chemotherapy. This could indicate that radiotherapy to the primary tumor could be discussed with the patients as a first treatment option for asymptomatic metastatic rectal cancer to prevent local complications later during the disease.


Assuntos
Doenças Assintomáticas/terapia , Doenças Raras/radioterapia , Neoplasias Retais/radioterapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Assintomáticas/epidemiologia , Estudos de Coortes , Terapia Combinada , Feminino , Humanos , Masculino , Oncologia/tendências , Pessoa de Meia-Idade , Cuidados Paliativos , Modelos de Riscos Proporcionais , Doenças Raras/tratamento farmacológico , Doenças Raras/patologia , Doenças Raras/cirurgia , Neoplasias Retais/tratamento farmacológico , Neoplasias Retais/patologia , Neoplasias Retais/cirurgia , Suécia/epidemiologia
6.
Internist (Berl) ; 61(10): 1063-1075, 2020 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-32930809

RESUMO

Lipodystrophy (LD) syndromes are a group of rare and heterogeneous diseases characterized by a congenital deficiency or acquired loss of adipose tissue. Due to the resulting disorder of metabolism, sometimes severe sequelae can develop, such as hypertriglyceridemia, marked insulin resistance and early manifestation of type 2 diabetes, recurrent pancreatitis, fatty liver disease and liver fibrosis. Lipodystrophies are clinically recognizable due to the complete lack of subcutaneous adipose tissue or a conspicuous pattern of the distribution of body fat. Acanthosis nigricans in slimly built persons, a high fasting triglyceride level and elevated concentrations of liver enzymes as well as a positive history of pancreatitis can be indications of LD.


Assuntos
Tecido Adiposo/metabolismo , Diabetes Mellitus Lipoatrófica , Resistência à Insulina , Lipodistrofia , Tecido Adiposo/patologia , Diabetes Mellitus Tipo 2 , Humanos , Lipodistrofia/diagnóstico , Lipodistrofia/etiologia , Lipodistrofia/metabolismo , Lipodistrofia/terapia , Doenças Raras
7.
Foot Ankle Spec ; 13(5): 415-419, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32924585

RESUMO

Skin cancer is the most common cancer within the United States. Reports estimate that 1 in 5 Americans will develop some form of skin cancer. Eccrine porocarcinoma is a rare type of skin cancer of sweat gland origin. Eccrine porocarcinoma is most commonly found on the lower extremities. Clinically it may appear similar to benign skin lesions and it has significant metastatic potential. The authors present a case report with 22 months' follow-up. It describes a multiyear delay in diagnosis involving 3 specialties, including primary care, dermatology, and wound physical therapy. Information is given on techniques when high-risk cutaneous cancers are suspected or encountered. A multispecialty treatment plan is discussed.Levels of Evidence: Level V.


Assuntos
Diagnóstico Tardio/prevenção & controle , Porocarcinoma Écrino/diagnóstico , Porocarcinoma Écrino/cirurgia , Hallux/cirurgia , Procedimentos Ortopédicos/métodos , Neoplasias das Glândulas Sudoríparas/diagnóstico , Neoplasias das Glândulas Sudoríparas/cirurgia , Idoso , Amputação/métodos , Porocarcinoma Écrino/diagnóstico por imagem , Porocarcinoma Écrino/patologia , Humanos , Comunicação Interdisciplinar , Extremidade Inferior , Masculino , Equipe de Assistência ao Paciente , Doenças Raras , Biópsia de Linfonodo Sentinela , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único , Neoplasias das Glândulas Sudoríparas/diagnóstico por imagem , Neoplasias das Glândulas Sudoríparas/patologia , Resultado do Tratamento
8.
Rev Assoc Med Bras (1992) ; 66(8): 1018-1020, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32935790

RESUMO

Sarcoidosis is a multisystemic noncaseating granulomatous disease that rarely affects the gastrointestinal system. The initial diagnosis of sarcoidosis with gallbladder/gallbladder-associated lymph node involvement is a very rare condition in the literature. Herein, we aimed to report a case of newly diagnosed sarcoidosis with lymph node involvement associated with the gallbladder.


Assuntos
Colelitíase , Sarcoidose , Colelitíase/etiologia , Humanos , Doenças Raras , Sarcoidose/complicações
9.
Viruses ; 12(9)2020 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-32972027

RESUMO

Traditionally, drug discovery utilises a de novo design approach, which requires high cost and many years of drug development before it reaches the market. Novel drug development does not always account for orphan diseases, which have low demand and hence low-profit margins for drug developers. Recently, drug repositioning has gained recognition as an alternative approach that explores new avenues for pre-existing commercially approved or rejected drugs to treat diseases aside from the intended ones. Drug repositioning results in lower overall developmental expenses and risk assessments, as the efficacy and safety of the original drug have already been well accessed and approved by regulatory authorities. The greatest advantage of drug repositioning is that it breathes new life into the novel, rare, orphan, and resistant diseases, such as Cushing's syndrome, HIV infection, and pandemic outbreaks such as COVID-19. Repositioning existing drugs such as Hydroxychloroquine, Remdesivir, Ivermectin and Baricitinib shows good potential for COVID-19 treatment. This can crucially aid in resolving outbreaks in urgent times of need. This review discusses the past success in drug repositioning, the current technological advancement in the field, drug repositioning for personalised medicine and the ongoing research on newly emerging drugs under consideration for the COVID-19 treatment.


Assuntos
Infecções por Coronavirus/tratamento farmacológico , Reposicionamento de Medicamentos , Pneumonia Viral/tratamento farmacológico , Betacoronavirus , Infecções por Coronavirus/epidemiologia , Reposicionamento de Medicamentos/economia , Reposicionamento de Medicamentos/tendências , Humanos , Pandemias , Pesquisa Farmacêutica , Pneumonia Viral/epidemiologia , Medicina de Precisão , Doenças Raras/tratamento farmacológico
10.
Clin Dermatol ; 38(4): 399-407, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32972599

RESUMO

Genodermatoses are heritable skin diseases that can cause significant morbidity and mortality. Most of them show characteristic cutaneous findings. Genodermatoses can be associated with extracutaneous system abnormalities. Diagnosing hereditary skin disorders is still a challenging task due to their rarity and diversity, due to diseases evolving over many years, and the initial manifestations not always being diagnostic; therefore, ongoing evaluation and surveillance is often required to make the accurate diagnosis. The algorithm for the diagnosis depends on a combination of thorough clinical and family history clinical examination, laboratory findings, consultation of multiple medical specialists, and molecular analysis. Diagnostic testing targeted at differentiation of similar genodermatoses may be required. Recognition is crucial for the initiation of the treatment for skin manifestations and detection of other extracutaneous abnormalities, including malignancy. Diagnostic accuracy and molecular diagnosis may help in providing a template for ongoing management, testing, and education and prognostication for families of children with genodermatoses.


Assuntos
Técnicas e Procedimentos Diagnósticos , Doenças Raras , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/patologia , Pele/patologia , Algoritmos , Diagnóstico Precoce , Feminino , Testes Genéticos , Humanos , Masculino , Síndrome
11.
13.
Schmerz ; 34(5): 447-459, 2020 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-32734404

RESUMO

In this article we address the relevance of rare diseases and their peculiarities with respect to pain therapy. Towards this end, four rare diseases (hemophilia, Morbus Fabry, dermatomyositis, and facioscapulohumeral dystrophy (FSHD)) will be presented and fundamental aspects of their pain therapies described. The diseases were chosen to showcase a pain therapy based on the WHO-step-by-step plan (hemophilia), a complex but established pain therapy (M. Fabry), and two less well established, individually adapted pain therapies (dermatomyositis, FSHD).


Assuntos
Distrofia Muscular Facioescapuloumeral , Manejo da Dor , Doenças Raras , Humanos , Distrofia Muscular Facioescapuloumeral/terapia , Doenças Raras/complicações
14.
Eur J Cardiothorac Surg ; 58(3): 646-647, 2020 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-32754730

RESUMO

Pneumomediastinum is a rare clinical finding, but one which can be the source of significant concern for clinicians. By presenting 3 such cases, we highlight that pneumomediastinum can complicate the course of a severe coronavirus disease 2019 infection but emphasize that conservative management is the first-line method of treatment, with gradual resorption of the air from the tissues. It is important to be alert to the development of pneumothorax, which will require drainage.


Assuntos
Tratamento Conservador , Infecções por Coronavirus/complicações , Progressão da Doença , Enfisema Mediastínico/etiologia , Enfisema Mediastínico/terapia , Pneumonia Viral/complicações , Idoso , Antibacterianos/uso terapêutico , Gasometria , Técnicas de Laboratório Clínico/métodos , Pressão Positiva Contínua nas Vias Aéreas/métodos , Infecções por Coronavirus/diagnóstico , Seguimentos , Humanos , Masculino , Enfisema Mediastínico/diagnóstico por imagem , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/diagnóstico , Radiografia Torácica/métodos , Doenças Raras , Medição de Risco , Amostragem , Fatores de Tempo , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
16.
Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med ; 28(Special Issue): 778-784, 2020 Aug.
Artigo em Russo | MEDLINE | ID: mdl-32856825

RESUMO

Orphan (rare) diseases include congenital or acquired diseases, the frequency of occurrence of which does not exceed a certain number established by the laws of various countries. Despite its rarity, the orphan diseases make a significant contribution to the structure of population disability and most of them have no specific treatment. One of the main clinical challenges in these patients is to ensure their high quality of life (QOL). The review describes basic non-specific and specific questionnaires for assessing QOL in children with orphan diseases. An ideal questionnaire for assessing QOL in children with orphan disease should be sufficiently reliable, valid, sensitive and specific, fill out by a child or adolescents on their own, include questions covering as much as possible all areas of life and health aspects - especially those associated with the main decease. The questionnaire should not be too huge and complicated for the patient. From the side of the researcher, the simplicity of the tool in calculating and the ability to use the results for subsequent analysis are important.


Assuntos
Qualidade de Vida , Doenças Raras , Adolescente , Criança , Humanos , Reprodutibilidade dos Testes , Inquéritos e Questionários
17.
Brain Tumor Pathol ; 37(4): 165-170, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32740753

RESUMO

Solitary fibrous tumor/hemangiopericytoma is a mesenchymal tumor that originates from a common NAB2-STAT6 fusion gene and is known to very rarely demonstrate dedifferentiation in the pattern of local recurrence or distant metastasis. Here we describe for the first time a rare case of intracranial dedifferentiated solitary fibrous tumor/hemangiopericytoma with osteosarcoma components that developed in an 84-year-old man after frequent gamma knife radiosurgery over a 14-year period. We performed tumor-debulking and gamma knife radiosurgery, but unfortunately the patient died shortly after the development of dedifferentiation. There is no established treatment for dedifferentiated cases due to the rare histology and limited published data, and therefore further accumulation of histological and genetic profiles is necessary to develop novel target gene therapies.


Assuntos
Neoplasias Encefálicas/patologia , Desdiferenciação Celular , Hemangiopericitoma/patologia , Hemangiopericitoma/cirurgia , Segunda Neoplasia Primária , Osteossarcoma/patologia , Tumores Fibrosos Solitários/patologia , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/cirurgia , Procedimentos Cirúrgicos de Citorredução , Progressão da Doença , Evolução Fatal , Fusão Gênica , Hemangiopericitoma/genética , Humanos , Masculino , Procedimentos Neurocirúrgicos , Osteossarcoma/genética , Osteossarcoma/cirurgia , Radiocirurgia , Doenças Raras , Proteínas Repressoras/genética , Fator de Transcrição STAT6/genética , Tumores Fibrosos Solitários/genética , Tumores Fibrosos Solitários/cirurgia
18.
Am J Hum Genet ; 107(3): 403-417, 2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32755546

RESUMO

Human Phenotype Ontology (HPO)-based analysis has become standard for genomic diagnostics of rare diseases. Current algorithms use a variety of semantic and statistical approaches to prioritize the typically long lists of genes with candidate pathogenic variants. These algorithms do not provide robust estimates of the strength of the predictions beyond the placement in a ranked list, nor do they provide measures of how much any individual phenotypic observation has contributed to the prioritization result. However, given that the overall success rate of genomic diagnostics is only around 25%-50% or less in many cohorts, a good ranking cannot be taken to imply that the gene or disease at rank one is necessarily a good candidate. Here, we present an approach to genomic diagnostics that exploits the likelihood ratio (LR) framework to provide an estimate of (1) the posttest probability of candidate diagnoses, (2) the LR for each observed HPO phenotype, and (3) the predicted pathogenicity of observed genotypes. LIkelihood Ratio Interpretation of Clinical AbnormaLities (LIRICAL) placed the correct diagnosis within the first three ranks in 92.9% of 384 case reports comprising 262 Mendelian diseases, and the correct diagnosis had a mean posttest probability of 67.3%. Simulations show that LIRICAL is robust to many typically encountered forms of genomic and phenomic noise. In summary, LIRICAL provides accurate, clinically interpretable results for phenotype-driven genomic diagnostics.


Assuntos
Biologia Computacional , Bases de Dados Genéticas , Genômica , Doenças Raras/diagnóstico , Algoritmos , Exoma/genética , Humanos , Fenótipo , Doenças Raras/genética , Software
19.
Am J Hum Genet ; 107(3): 527-538, 2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32758447

RESUMO

Generalized pustular psoriasis (GPP) is a severe multi-systemic inflammatory disease characterized by neutrophilic pustulosis and triggered by pro-inflammatory IL-36 cytokines in skin. While 19%-41% of affected individuals harbor bi-allelic mutations in IL36RN, the genetic cause is not known in most cases. To identify and characterize new pathways involved in the pathogenesis of GPP, we performed whole-exome sequencing in 31 individuals with GPP and demonstrated effects of mutations in MPO encoding the neutrophilic enzyme myeloperoxidase (MPO). We discovered eight MPO mutations resulting in MPO -deficiency in neutrophils and monocytes. MPO mutations, primarily those resulting in complete MPO deficiency, cumulatively associated with GPP (p = 1.85E-08; OR = 6.47). The number of mutant MPO alleles significantly differed between 82 affected individuals and >4,900 control subjects (p = 1.04E-09); this effect was stronger when including IL36RN mutations (1.48E-13) and correlated with a younger age of onset (p = 0.0018). The activity of four proteases, previously implicated as activating enzymes of IL-36 precursors, correlated with MPO deficiency. Phorbol-myristate-acetate-induced formation of neutrophil extracellular traps (NETs) was reduced in affected cells (p = 0.015), and phagocytosis assays in MPO-deficient mice and human cells revealed altered neutrophil function and impaired clearance of neutrophils by monocytes (efferocytosis) allowing prolonged neutrophil persistence in inflammatory skin. MPO mutations contribute significantly to GPP's pathogenesis. We implicate MPO as an inflammatory modulator in humans that regulates protease activity and NET formation and modifies efferocytosis. Our findings indicate possible implications for the application of MPO inhibitors in cardiovascular diseases. MPO and affected pathways represent attractive targets for inducing resolution of inflammation in neutrophil-mediated skin diseases.


Assuntos
Inflamação/genética , Interleucinas/genética , Peroxidase/genética , Psoríase/genética , Dermatopatias/genética , Adulto , Animais , Citocinas/genética , Armadilhas Extracelulares/genética , Feminino , Humanos , Inflamação/patologia , Interleucina-1/genética , Interleucinas/metabolismo , Masculino , Camundongos , Mutação/genética , Neutrófilos/metabolismo , Psoríase/patologia , Doenças Raras/enzimologia , Doenças Raras/genética , Doenças Raras/patologia , Pele/enzimologia , Pele/patologia , Dermatopatias/patologia
20.
Tokai J Exp Clin Med ; 45(2): 53-57, 2020 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-32602101

RESUMO

BACKGROUND: Myxofibrosarcoma is a rare disease occurring subcutaneously in the limbs. We report a case of a rapidly growing myxofibrosarcoma in the breast of an elderly man that recurred early after surgery. CASE PRESENTATION: A 73-year-old man presented with a breast mass. Physical findings showed a large tumor in the right breast, and malignancy was suspected on ultrasonography. Computed tomography (CT) revealed tumor invasion into the pectoralis major and pectoralis minor muscles. Positron emission tomography/CT showed no abnormality in other organs. Needle biopsy results excluded breast cancer but did not provide a definitive diagnosis. However, the tumor grew rapidly before further results were available, so emergency mastectomy was performed. The final pathological diagnosis was high-grade myxofibrosarcoma. Postoperative radiotherapy was started because of remnant tumor. The wound became worsened and swollen, and needle biopsy 10 days after the start of therapy indicated recurrence. Radical resection and thoracoplasty were performed. Postoperative pathological specimens showed no residual tumor. Radical radiation therapy was resumed. The patient has shown no recurrence after an year. CONCLUSIONS: It is important to consult a soft tissue oncologist for tumors in the breast and perform appropriate examination and treatment if soft tissue tumors cannot be ruled out.


Assuntos
Neoplasias da Mama Masculina/cirurgia , Fibroma/cirurgia , Idoso , Neoplasias da Mama Masculina/diagnóstico por imagem , Neoplasias da Mama Masculina/patologia , Neoplasias da Mama Masculina/radioterapia , Progressão da Doença , Fibroma/diagnóstico por imagem , Fibroma/patologia , Fibroma/radioterapia , Humanos , Masculino , Recidiva Local de Neoplasia , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Doenças Raras , Tomografia Computadorizada por Raios X
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