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1.
J Hand Surg Asian Pac Vol ; 28(5): 614-618, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37881819

RESUMO

Angioleiomyoma is a rare benign soft tissue tumour arising from smooth muscle, representing <1% of upper limb soft tissue tumours. We report a 54-year-old male presenting with a progressively enlarging atraumatic lesion along the palmar side of the base of the ring and little finger. A biopsy was done to determine the diagnosis. Intraoperatively, the lump was found to be intimately related to the radial digital artery, it could not be excised en-bloc without transecting the radial digital artery of the little finger. Following excision, the ends of the digital artery were anastomosed. At 10-months follow-up, the hand was fully functional without any evidence of cold-intolerance or neurological deficit along the distribution of the digital nerve. We review the literature on angioleiomyoma and report careful resection of the tumour with digital artery transection and repair as a treatment option for angioleiomyoma of the digital artery. Level of Evidence: Level V (Therapeutic).


Assuntos
Angiomioma , Neoplasias de Tecidos Moles , Masculino , Humanos , Pessoa de Meia-Idade , Angiomioma/diagnóstico , Angiomioma/patologia , Angiomioma/cirurgia , Neoplasias de Tecidos Moles/cirurgia , Mãos/irrigação sanguínea , Nervos Periféricos , Dedos/patologia
2.
Cancer Genomics Proteomics ; 20(6): 556-566, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37889065

RESUMO

BACKGROUND/AIM: Angioleiomyoma is a benign tumor, occurs at any age, and arises most frequently in the lower extremities. Genetic information on angioleiomyomas is restricted to six reported abnormal karyotypes, losses in chromosome 22 and gains in Xq found by comparative genomic hybridization, and mutation analysis of notch receptor 2 (NOTCH2), NOTCH3, platelet-derived growth factor receptor beta (PDGFRB), and mediator complex subunit 12 (MED12) in a few tumors. Herein, we report the genetic findings in another three angioleiomyomas. MATERIALS AND METHODS: The tumors were examined using G-banding and karyotyping, RNA sequencing, reverse transcription-polymerase chain reaction, Sanger sequencing, and expression analysis. RESULTS: The first tumor carried a t(4;5)(p12;q32) translocation resulting in fusion of the cardiac mesoderm enhancer-associated non-coding RNA (CARMN in 5q32) with the TXK tyrosine kinase gene (TXK in 4p12) leading to overexpression of TXK. To our knowledge, this is the first time that a recurrent chromosome translocation and its resulting fusion gene have been described in angioleiomyomas. The second tumor carried a four-way translocation, t(X;3;4;16)(q22;p11;q11;p13) which fused the myosin heavy chain 11 gene (MYH11 in 16p13) with intergenic sequences from Xq22 that mapped a few kilobase pairs distal to the insulin receptor substrate 4 gene (IRS4), resulting in enhanced IRS4 expression. The third angioleiomyoma carried another rearrangement of chromosome band Xq22, t(X;9)(q22;q32), as the sole cytogenetic aberration, but no material was available for further molecular investigation. CONCLUSION: Our data, together with previously reported abnormal karyotypes in angioleiomyomas, show the presence of two recurrent genetic pathways in this tumor type: The first is characterized by presence of the translocation t(4;5)(p12;q32), which generates a CARMN::TXK chimera. The second is recurrent rearrangement of Xq22 resulting in overexpression of IRS4.


Assuntos
Angiomioma , Humanos , Angiomioma/genética , Hibridização Genômica Comparativa , Aberrações Cromossômicas , Translocação Genética , Fatores de Transcrição , Cariótipo Anormal
4.
Mod Rheumatol Case Rep ; 8(1): 210-214, 2023 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-37542432

RESUMO

We present a case of a patient who underwent a modified scarf osteotomy and tumour excision based on a preoperative diagnosis of hallux valgus deformity and accompanying bursitis. Subsequent histopathological examination revealed that the tumour was an angioleiomyoma. While tumours around the first metatarsophalangeal (MTP) joint are typically associated with gouty nodules, infections, or swollen bursa (bursitis) in patients with hallux valgus deformity, the occurrence of soft tissue tumours in this area is rare. Moreover, angioleiomyoma is an even rarer form of soft tissue tumour and is seldom suspected prior to resection. To our knowledge, there have been no reports of angioleiomyoma arising in the first MTP joint. However, it is important to consider the possibility of an atypical tumour in cases where soft tissue masses are present, even in patients with hallux valgus deformity, and to perform at least imaging tests such as ultrasound and magnetic resonance imaging before surgery. This prospect should always be kept in mind.


Assuntos
Angiomioma , Bursite , Hallux Valgus , Articulação Metatarsofalângica , Humanos , Hallux Valgus/diagnóstico , Hallux Valgus/etiologia , Hallux Valgus/cirurgia , Angiomioma/complicações , Radiografia , Articulação Metatarsofalângica/cirurgia , Bursite/complicações
5.
BMC Womens Health ; 23(1): 157, 2023 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-37013521

RESUMO

BACKGROUND: Uterine angioleiomyoma is benign tumor that composed of smooth muscle cells and thick-walled vessels. It is a very rare condition reported to present as lower abdominal mass, accompanied by dysmenorrhea and hypermenorrhea. However, its clinical presentation is not known. CASE PRESENTATION: We report the case of a 44-year-old Japanese woman who developed severe anemia with disseminated intravascular coagulation without obvious external bleeding. The patient had a huge abdominal mass of over 20 cm in size, which was thought to be a uterine tumor. She received daily blood transfusions and her condition improved rapidly after she underwent hysterectomy. Pathological examination of the tumor revealed spindle-shaped cells with little atypia and mitosis, and numerous large vessels with smooth muscle and thrombus in the vessels. CONCLUSIONS: Uterine angioleiomyoma was identified as the cause of the coagulation abnormality. CCND2 and AR gene amplification was detected in the tumor. Uterine tumors that present with coagulopathy despite a clinical course suggestive of benign disease should undergo differential diagnosis for uterine angioleiomyoma.


Assuntos
Angiomioma , Coagulação Intravascular Disseminada , Neoplasias Uterinas , Feminino , Humanos , Adulto , Angiomioma/diagnóstico , Angiomioma/patologia , Angiomioma/cirurgia , Coagulação Intravascular Disseminada/complicações , Útero , Neoplasias Uterinas/complicações , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Histerectomia
6.
J Foot Ankle Surg ; 62(4): 746-749, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36941142

RESUMO

Angioleiomyoma is a benign tumor, which arises from the smooth muscle. It comprises approximately 4.4% of all benign soft tissues' neoplasms and they are commonly located at the lower extremities. They are most frequently found in middle-aged women. Angioleiomyoma is usually presented as a painful solitary lesion in the subcutaneous tissue. Due to the lack of evidence in the literature, the aim of this current concepts review was to provide foot and ankle surgeons the most updated and useful information for diagnosis and management of foot or ankle's angioleiomyoma. The possible diagnosis of angioleiomyoma is rarely thought of before surgery. X-ray, US, MRI, aspiration, scintigraphy, CT and EMG make part of the diagnostic tools available and angioleiomyoma's main characteristics in each of the exams are detailed. Angioleiomyoma cannot be neglected as consequence of delay or mistreatment increases morbidity and the potential risk to malignant transformation.


Assuntos
Angiomioma , Neoplasias de Tecidos Moles , Pessoa de Meia-Idade , Humanos , Feminino , Tornozelo/diagnóstico por imagem , Angiomioma/diagnóstico por imagem , Angiomioma/cirurgia , Extremidade Inferior/patologia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/cirurgia , Articulação do Tornozelo/patologia
7.
Am J Case Rep ; 24: e938645, 2023 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-36805667

RESUMO

BACKGROUND Primary hepatic angioleiomyoma is a rare mesenchymal tumor that is characterized by blood vessels and smooth muscle. Herein, we report an extremely rare case of primary hepatic angioleiomyoma and discuss the clinicopathological features. CASE REPORT A 60-year-old Mongolian man was diagnosed with a hepatic tumor in the second and third segments of screening in 2012. It had been under control by a physician for 10 years. The patient had discomfort and vague pain in the right side of the abdomen since April 2022. Hepatitis virus markers (hepatitis B and hepatitis C) were negative. Plain computed tomography revealed an 80-mm solitary liver lesion in the left lobe with well-defined margins and heterogeneous enhancement. A left hepatectomy was performed in May 2022. The cut surface of the tumor showed a grayish-white, elastic, hard mass with a diameter of 50×80 mm. Histological findings of the tumor revealed that it was clearly demarcated from the surrounding liver tissues with relatively clear boundaries showing thick, muscle-coated blood vessels with perivascular smooth muscle bundles. Immunohistochemical staining showed that the smooth muscle cells were strongly diffuse and positive for smooth muscle actin. CONCLUSIONS Clinically, primary hepatic angioleiomyoma should be distinguished from other types of liver tumors, especially liver cancer. In combination with our long-term observation and other case reports, we recommend general follow-up if the preoperative pathological diagnosis can be confirmed and the patient has no other symptoms.


Assuntos
Cavidade Abdominal , Angiomioma , Neoplasias Hepáticas , Masculino , Humanos , Pessoa de Meia-Idade , Angiomioma/diagnóstico , Angiomioma/cirurgia , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/cirurgia , Hepatectomia
8.
Mod Pathol ; 36(3): 100070, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36788105

RESUMO

Pericytic tumors are subclassified as myopericytomas, myofibromas, angioleiomyomas, and glomus tumors according to the current World Health Organization classification. These pericytic tumors form a continuous morphologic spectrum, including those with combined morphology. However, to our knowledge, no widely accepted criteria for classifying tumors with combined morphology are available. Recent studies have identified platelet-derived growth factor receptor-beta (PDGFRB) gene mutations in a subset of myofibromas, myopericytomas, and myopericytomatoses but not in angioleiomyomas. NOTCH receptor 3 (NOTCH3) mutations have been reported in a subset of infantile myofibromatosis. To assess their potential role in classifying pericytic tumors, we investigated PDGFRB and NOTCH3 mutations in 41 pericytic tumors of variable morphology, including some combined forms. Our results show these mutations to be present in a variety of pericytic tumors, such as myopericytomas (PDGFRB, 3/11; NOTCH3, 4/11), myopericytomatoses (1/2; 1/2), myofibromas (3/6; 0/6), angioleiomyomas (2/13; 3/13), and glomus tumors (5/9; 1/9). Point mutations were identified in 3 tumors in PDGFRB exon 12 (Y562C, S574F, and G576S), 12 tumors in PDGFRB exon 14 (M655I, H657L, and N666K), and 9 tumors in NOTCH3 exon 25 (A1480S/T, D1481N, G1482S, T1490A, E1491K, G1494S, and V1512A). All PDGFRB mutations and NOTCH3 G1482S, T1490A, and G1494S mutations were classified as "deleterious/damaging" by ≥4 of 6 pathogenicity prediction tools in silico. Five-mutation-positive tumors, including 1 myopericytoma-angioleiomyoma, 2 myopericytomatoses-myofibroma, 1 myofibroma-myopericytoma and 1 angioleiomyoma-myopericytoma, were of combined morphology. Therefore, we found PDGFRB and NOTCH3 mutations to be detectable in a much wider variety of pericytic tumors than previously reported and confirmed myopericytomas, myofibromas, angioleiomyomas, and glomus tumors as members harboring PDGFRB or NOTCH3 mutations. Our results thus suggest that PDGFRB or NOTCH3 mutations are not useful for subclassifying members of the pericytic tumor family.


Assuntos
Angiomioma , Tumor Glômico , Miofibroma , Miopericitoma , Humanos , Miopericitoma/genética , Miopericitoma/patologia , Angiomioma/genética , Angiomioma/patologia , Tumor Glômico/genética , Tumor Glômico/patologia , Miofibroma/genética , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Mutação , Receptor Notch3/genética
9.
Ear Nose Throat J ; 102(2): NP72-NP75, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33530742

RESUMO

Angioleiomyomas are smooth muscle masses originating from blood vessel tunica media. This is a rare tumor, comprising less than 1% of benign sinonasal cavity tumors. Failure to recognize and surgically excise nasal angioleiomyomas can result in lesion recurrence. We present 2 new cases of nasal septum angioleiomyoma at a single institution. Additionally, both cases underwent septal and nasal surgery. Due to the nonspecific clinical and imaging findings, a high index of suspicion is needed to diagnose nasal septum angioleiomyoma, often requiring histopathological verification. Preferred treatment is complete surgical excision. From our experience, concurrent corrective septal and sinus surgery can be completed with tumors less than 1.0 cm in size.


Assuntos
Angiomioma , Procedimentos Cirúrgicos Nasais , Humanos , Angiomioma/diagnóstico por imagem , Angiomioma/cirurgia , Septo Nasal/cirurgia , Septo Nasal/patologia
10.
Br J Neurosurg ; 37(5): 1010-1015, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33095082

RESUMO

INTRODUCTION: Primary intracranial angioleiomyoma (ALM) is quite rare and ALM of the adolescent is even rarer. To date, only three cases of adolescents have been reported. MATERIAL AND METHODS: We carefully introduced a new location of intracranial ALM in an adolescent. The clinical, pathological and imaging features of intracranial ALM were described in detail and published literature was reviewed. RESULTS: To our best knowledge, we presented the fourth primary intracranial ALM of adolescent and the first ALM of the right frontal cranial base with intracranial and extracranial communication. We not only summarize the generalities of ALM but also illustrate the difference between adult and adolescent ALM in the aspects of gender and age predominance, etiology, common location and pathologic subtype. CONCLUSIONS: We reported the first ALM of the right frontal cranial base with intracranial and extracranial communication of an adolescent with a good prognosis. We also summarize the generalities of ALM and illustrate the difference between adult and adolescent ALM. Future investigation of control study with large patient cohorts is needed for both adult and adolescent ALM to compare the difference between them.


Assuntos
Angiomioma , Adulto , Adolescente , Humanos , Angiomioma/diagnóstico por imagem , Angiomioma/cirurgia , Base do Crânio
12.
J Craniofac Surg ; 34(4): e336-e338, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-36053196

RESUMO

Angioleiomyoma in the head and neck area is rarely observed. This report introduces 2 cases of angioleiomyoma discovered in the parotid gland, particularly with the superficial temporal artery (STA) as the feeding vessel. Each patient was evaluated preoperatively by clinical manifestation and computed tomography scan, but the difficulty was encountered due to nonspecific radiologic features of angioleiomyoa. Surgical intervention was performed for precise diagnosis and treatment. The tumors were fed from the STA, with the diagnosis of venous type parotid angioleiomyoma. To our knowledge, there have been only one previous report of angioleiomyoma of the parotid gland fed from STA in the literature. Once parotid tumor is discovered, although rare, the possibility of angioleiomyoma should be considered, and the authors recommend prompt surgical excision for accurate diagnosis and treatment.


Assuntos
Angiomioma , Neoplasias Parotídeas , Humanos , Glândula Parótida/cirurgia , Artérias Temporais , Angiomioma/diagnóstico por imagem , Angiomioma/cirurgia , Neoplasias Parotídeas/diagnóstico por imagem , Neoplasias Parotídeas/cirurgia , Tomografia Computadorizada por Raios X
13.
Pan Afr Med J ; 42: 156, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36187039

RESUMO

Uterine inversion is a rare postpartum complication. It is a rare condition in which the internal surface of the uterus protrudes through the vagina. Non-puerperal uterine inversion (NPUI) is extremely rare. In most instances, it is linked to uterine tumors. Among these tumors, leiomyoma is the most frequent cause reported in data. This condition may not be noticed until time of surgery. Malignancy is suspected in most cases. Nevertheless, uterine inversion can be diagnosed preoperatively using radiology. Difficulties in diagnosing NPUI makes this clinical case a challenge in gynaecology and not commonly reported in literature. We report our experience in the diagnosis and treatment of a complete non-puerperal uterine inversion associated with uterine angioleiomyoma. The patient's age was 44, gravida 2 para 1 presented with intermittent vaginal bleeding for four months and an acute abdominal cramping pain. On examination, a large mass lesion was observed which occupies the vaginal cavity and the contour of the uterine cervix could not be reached. Biopsies and Immunohistochemistry matched with an angioleiomyoma. She underwent a transvaginal surgical reposition technique: Spinelli's. It is important to diagnose accurate non-puerperal uterine inversion. Surgery provides good prognosis and it is necessary. We report a case of NPUI caused by angioleiomyoma. Nevertheless, malignancy must be eliminated in first place.


Assuntos
Abdome Agudo , Angiomioma , Hemangioma , Complicações do Trabalho de Parto , Inversão Uterina , Neoplasias Uterinas , Pré-Escolar , Feminino , Humanos , Gravidez , Inversão Uterina/diagnóstico , Inversão Uterina/etiologia , Inversão Uterina/cirurgia , Neoplasias Uterinas/complicações , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirurgia , Útero/cirurgia , Vagina
14.
Acta Neuropathol Commun ; 10(1): 81, 2022 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-35642047

RESUMO

The International Society for the Study of Vascular Anomalies (ISSVA) has defined four vascular lesions in the central nervous system (CNS): arteriovenous malformations, cavernous angiomas (also known as cerebral cavernous malformations), venous malformations, and telangiectasias. From a retrospective central radiological and histopathological review of 202 CNS vascular lesions, we identified three cases of unclassified vascular lesions. Interestingly, they shared the same radiological and histopathological features evoking the cavernous subtype of angioleiomyomas described in the soft tissue. We grouped them together with four additional similar cases from our clinicopathological network and performed combined molecular analyses. In addition, cases were compared with a cohort of 5 soft tissue angioleiomyomas. Three out 6 CNS lesions presented the same p.Gly41Cys GJA4 mutation recently reported in hepatic hemangiomas and cutaneous venous malformations and found in 4/5 soft tissue angioleiomyomas of our cohort with available data. Most DNA methylation profiles were not classifiable using the CNS brain tumor (version 12.5), and sarcoma (version 12.2) classifiers. However, using unsupervised t-SNE analysis and hierarchical clustering analysis, 5 of the 6 lesions grouped together and formed a distinct epigenetic group, separated from the clusters of soft tissue angioleiomyomas, other vascular tumors, inflammatory myofibroblastic tumors and meningiomas. Our extensive literature review identified several cases similar to these lesions, with a wide variety of denominations. Based on radiological and histomolecular findings, we suggest the new terminology of "dural angioleiomyomas" (DALM) to designate these lesions characterized by a distinct DNA methylation pattern and frequent GJA4 mutations.


Assuntos
Angiomioma , Conexinas , Hemangioma , Angiomioma/genética , Conexinas/genética , Metilação de DNA , Hemangioma/genética , Humanos , Mutação , Estudos Retrospectivos
15.
J Cutan Pathol ; 49(8): 731-735, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35357042

RESUMO

Epithelioid angioleiomyoma (EALM) is rare in the skin and subcutaneous tissues. To the best of our knowledge, only two previous cases of this tumor have been reported. We document here the case of an 83-year-old woman who underwent complete removal of a squamous cell carcinoma of the retromolar trigone and lymph node dissection of the neck. An incidental EALM was observed in the adipose tissue. The tumor formed a unilocular, poorly demarcated neoplasm measuring 0.3 cm, and showed cavernous angiomatous spaces with villiform growth of large epithelioid cells arranged in clusters. Besides the epithelioid cells of muscular origin, bundles of well-differentiated smooth muscle cells were observed. Epithelioid cells accounted for 70% of the total. The neoplasm originated in the wall of a medium-sized vein. Epithelioid and spindle cells were positive for alpha-smooth muscle actin, calponin, h-caldesmon, and muscle-specific actin. The endothelial cells lining the vascular spaces showed intense and diffuse positivity for CD31 and ERG. The main differential diagnosis includes metastatic carcinoma, melanoma, perivascular epithelioid cell neoplasm, myopericytoma, glomangiomyoma, epithelioid glomus tumor, and epithelioid leiomyosarcoma. This report expands the morphological spectrum of the EALM. Awareness of this uncommon morphologic variant of angioleiomyoma and the use of adequate techniques can avoid misdiagnosis.


Assuntos
Angiomioma , Tumor Glômico , Neoplasias de Tecidos Moles , Actinas , Idoso de 80 Anos ou mais , Angiomioma/patologia , Angiomioma/cirurgia , Biomarcadores Tumorais , Células Endoteliais/patologia , Feminino , Tumor Glômico/patologia , Humanos , Neoplasias de Tecidos Moles/patologia
17.
Orbit ; 41(6): 783-785, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34057005

RESUMO

Angioleiomyomas are benign tumors composed of smooth muscle and vascular endothelium. While infrequent in overall prevalence, they are exceptionally rare in the head and neck. Herein, we describe the case of a 65-year-old female who was found to have an angioleiomyoma of the right nasolacrimal duct. Endoscopic excision of the lesion along with medial maxillectomy and dacryocystorhinostomy was performed without complication. The current report is one of the few reported cases of angioleiomyoma of the lacrimal drainage system.


Assuntos
Angiomioma , Dacriocistorinostomia , Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Feminino , Humanos , Idoso , Ducto Nasolacrimal/diagnóstico por imagem , Ducto Nasolacrimal/cirurgia , Ducto Nasolacrimal/patologia , Angiomioma/diagnóstico por imagem , Angiomioma/cirurgia , Angiomioma/complicações , Dacriocistorinostomia/efeitos adversos , Endoscopia , Obstrução dos Ductos Lacrimais/etiologia
20.
Skeletal Radiol ; 51(4): 837-848, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34463813

RESUMO

OBJECTIVE: To identify the characteristic magnetic resonance imaging (MRI) findings in angioleiomyoma and to clarify its relationship with histopathological findings. MATERIALS AND METHODS: We retrospectively analyzed the MRI findings and pathological subtypes in 25 patients with subcutaneous angioleiomyoma of the extremities. Based on the previous reports, MRI findings that could be characteristic of angioleiomyoma were extracted. According to the World Health Organization classification, all cases were classified into three pathological subtypes: solid, venous, and cavernous. The relationship between MRI findings and pathological subtypes was analyzed. RESULTS: The pathological subtypes were solid (n = 10), venous (n = 11), and cavernous (n = 4). The following MRI findings were observed: (a) hypo- or iso-intense linear and/or branching structures on a T2-weighted image (positive total/solid/venous/cavernous: 19/5/10/4, respectively), which we defined as "dark reticular sign"; (b) peripheral hypointense rim on a T2-weighted image (positive total/solid/venous/cavernous: 19/7/8/4, respectively); and (c) presence of any adjacent vascular structures (positive total/solid/venous/cavernous: 6/3/3/0, respectively). Chi-square test showed a significant relationship between dark reticular sign and pathological subtypes (p = 0.0426). The dark reticular sign was found more frequently in the venous and cavernous types than in the solid type. The other MRI findings did not reveal a significant relationship between pathological subtypes. CONCLUSION: We present the largest case series exploring MRI findings in angioleiomyoma. The dark reticular sign was a characteristic MRI finding of angioleiomyoma and was seen in most of the venous and cavernous types, which may facilitate preoperative diagnosis.


Assuntos
Angiomioma , Angiomioma/diagnóstico por imagem , Angiomioma/patologia , Extremidades/diagnóstico por imagem , Extremidades/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Tela Subcutânea
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