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1.
Int Ophthalmol ; 44(1): 307, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38955894

RESUMO

PURPOSE: To review long-term outcomes of circumscribed choroidal hemangioma (CCH). METHODS: Hospital charts of all CCH cases diagnosed from 2008 to 2019 were retrospectively reviewed. RESULTS: All 172 patients were managed with either observation, transpupillary thermotherapy, argon laser photocoagulation, photodynamic therapy, plaque brachytherapy or stereotactic radiosurgery. The most common 3 modes of management were clinical observation (30.2%), transpupillary thermotherapy (52.9%) and argon laser photocoagulation (8.7%). Median follow-up time was 10 months (range: 3, 160). Anatomical outcomes were stable in 87.1% of observation group and improved in 60.5% of thermotherapy group. Quantified optical coherence tomography angiography findings showed statistical differences in vascular and perfusion densities in fellow eyes of hemangioma patients. CONCLUSION: Circumscribed choroidal hemangioma can be treated in various ways. Transpupillary thermotherapy is an anatomically effective treatment in selected cases. The diagnosis of CCH may have vascular implications in fellow eyes of the patients.


Assuntos
Neoplasias da Coroide , Angiofluoresceinografia , Hemangioma , Centros de Atenção Terciária , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Neoplasias da Coroide/terapia , Neoplasias da Coroide/diagnóstico , Feminino , Masculino , Estudos Retrospectivos , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodos , Angiofluoresceinografia/métodos , Adulto , Centros de Atenção Terciária/estatística & dados numéricos , Hemangioma/terapia , Hemangioma/diagnóstico , Idoso , Seguimentos , Fotoquimioterapia/métodos , Hipertermia Induzida/métodos , Fundo de Olho , Adulto Jovem , Corioide/patologia , Corioide/irrigação sanguínea
2.
Am J Gastroenterol ; 119(7): 1235-1271, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38958301

RESUMO

Focal liver lesions (FLLs) have become an increasingly common finding on abdominal imaging, especially asymptomatic and incidental liver lesions. Gastroenterologists and hepatologists often see these patients in consultation and make recommendations for management of multiple types of liver lesions, including hepatocellular adenoma, focal nodular hyperplasia, hemangioma, and hepatic cystic lesions including polycystic liver disease. Malignancy is important to consider in the differential diagnosis of FLLs, and healthcare providers must be familiar with the diagnosis and management of FLLs. This American College of Gastroenterology practice guideline uses the best evidence available to make diagnosis and management recommendations for the most common FLLs.


Assuntos
Adenoma de Células Hepáticas , Cistos , Hiperplasia Nodular Focal do Fígado , Hemangioma , Hepatopatias , Neoplasias Hepáticas , Humanos , Hiperplasia Nodular Focal do Fígado/diagnóstico , Hiperplasia Nodular Focal do Fígado/patologia , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/terapia , Neoplasias Hepáticas/diagnóstico por imagem , Hepatopatias/diagnóstico , Hepatopatias/terapia , Hepatopatias/diagnóstico por imagem , Hepatopatias/patologia , Hemangioma/diagnóstico , Hemangioma/terapia , Hemangioma/patologia , Hemangioma/diagnóstico por imagem , Cistos/diagnóstico , Cistos/diagnóstico por imagem , Cistos/patologia , Adenoma de Células Hepáticas/diagnóstico , Adenoma de Células Hepáticas/patologia , Adenoma de Células Hepáticas/terapia , Adenoma de Células Hepáticas/diagnóstico por imagem , Diagnóstico Diferencial , Gastroenterologia/normas , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/terapia , Carcinoma Hepatocelular/diagnóstico por imagem
4.
Pathologica ; 116(3): 153-157, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38979588

RESUMO

Secondary neoplastic lesions in lymph nodes are predominantly metastases from solid tumors, whereas primary lymph node hemangiomas are exceptionally uncommon, with only 24 well-documented cases in the literature. Histologically, they are characterized by endothelial cells that may appear flattened or enlarged, with variable vascular density, and the presence of stromal elements. Notably, the concurrent presence of a primary hemangioma and a metastasis from breast cancer - the latter being the most prevalent secondary lesion in axillary lymph nodes - represents an unprecedented observation. The unique case presented herein underscores the exceptional rarity of primary lymph node hemangiomas and demonstrates for the first time their possible coexistence with breast cancer metastasis within the same axillary lymph node. In sharing and discussing this case study, we pay homage to Professor Juan Rosai, whose work in redefining rare and complex diagnoses continues to enlighten our understanding of lymph node vascular lesions.


Assuntos
Neoplasias da Mama , Hemangioma , Linfonodos , Metástase Linfática , Humanos , Feminino , Neoplasias da Mama/patologia , Hemangioma/patologia , Linfonodos/patologia , Pessoa de Meia-Idade
5.
Transpl Immunol ; 85: 102077, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38950754

RESUMO

Systemic lupus erythematosus (SLE) is usually regarded as a relative contraindication for deceased kidney donation. The pathological variations because of the changes in the immune environment after kidney transplantation (KT) are unclear, and the recovery of renal function is poorly understood. We present a case of KT from a deceased donor with SLE who was followed-up for one year. Although SLE-related hemangioma developed during the perioperative period, it was cured after interventional treatment. A pre-planned biopsy was performed one year after KT, and it was found that most of the pathological changes and immunofluorescent markers of lupus had resolved. Renal function was stable, and urinary protein and occult blood levels reduced one year after KT.


Assuntos
Transplante de Rim , Lúpus Eritematoso Sistêmico , Doadores de Tecidos , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Feminino , Seguimentos , Hemangioma , Adulto , Rim/patologia , Pessoa de Meia-Idade
6.
Am J Case Rep ; 25: e943826, 2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38965761

RESUMO

BACKGROUND Hemangiomas of the adrenal gland are rare benign non-functional tumors arising from the gland's vascular endothelium. Adrenal hemangiomas are rare in clinical settings, often discovered incidentally during an unrelated diagnostic investigation. CASE REPORT A 39-year-old man presented with a heterogeneous, enhancing 4.56×4.24×3.9-cm mass originating from the right adrenal gland's lateral limb, discovered incidentally on computed tomography (CT) to investigate renal colic. He was routinely followed up for 2 years with serial CT scans; the mass exhibited considerable growth compared with baseline, with a relatively stable appearance with hyperdense soft tissue component, fat, and foci of calcification. Dexamethasone suppression test demonstrated suppressed cortisol response, indicating a non-functional mass. Therefore, laparoscopic right adrenalectomy was performed, owing to the benign nature of the preoperative diagnosis of myelolipoma and mass size. The patient experienced an uneventful recovery, with no perioperative complications. The resected mass was 5×4×4 cm in size and weighed 30 g. Histopathology confirmed adrenal hemangioma. Serial sectioning revealed an encapsulated lesion with heterogeneous solid and cystic surfaces. Light microscopy examination showed dilated and congested vascular channels lined by flattened endothelium. Focal mature adipose tissue was seen. CONCLUSIONS The infrequent occurrence of adrenal hemangiomas and their nonspecific clinical and radiological presentation results in a considerable diagnostic challenge and, often, misdiagnosis. Surgical resection is usually necessary to exclude malignant disease, alleviate pressure-related symptoms, and decrease risk of retroperitoneum hemorrhage. These lesions are associated with a good prognosis. One limitation of this report is the lack of preoperative adrenal magnetic resonance imaging of the incidental adrenal mass.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Hemangioma , Achados Incidentais , Cólica Renal , Humanos , Masculino , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Adulto , Hemangioma/diagnóstico , Hemangioma/diagnóstico por imagem , Cólica Renal/etiologia , Tomografia Computadorizada por Raios X
7.
Bol Med Hosp Infant Mex ; 81(Supl 2): 1-28, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39009029

RESUMO

Infantile hemangioma is a benign vascular tumor, the most common in childhood, whose natural evolution is the disappearance of the lesion in the pediatric age and which has effective and safe treatments that limit its growth and favor its disappearance at younger ages. Infantile hemangioma continues to be a reason for attention to complications, due to erroneous diagnoses, lack of knowledge of the condition, late referral or fear of the effects of the medications used for its treatment. Furthermore, its presence is normalized without taking into account that it can cause uncertainty, anxiety, feelings of guilt and, as a consequence, a significant impact on the quality of life, mainly in the parents or caregivers of the child. The need for a clinical practice guideline in our country arises from the high presentation of late-remitted complications in infantile hemangioma even with the availability of adequate treatments, the continuous evolution of medicine and the appearance of new evidence. Throughout the guide you will find recommendations regarding the diagnosis, treatment and follow-up of patients with infantile hemangioma, taking into account the paraclinical tests that can be performed, topical or systemic management options, as well as adjuvant therapies. For the first time, objective tools for patient follow-up are included in a guide for the management of infantile hemangioma, as well as to help the first contact doctor in timely referral.


El hemangioma infantil es un tumor vascular benigno, el más frecuente de la infancia, cuya evolución natural favorece la desaparición de la lesión en la misma edad pediátrica y que cuenta con tratamientos eficaces y seguros que limitan su crecimiento y favorecen su desaparición a edades más tempranas. Continúa siendo motivo de atención de complicaciones, debido a diagnósticos erróneos, desconocimiento del padecimiento, referencia tardía o temor de los efectos de los fármacos utilizados para su tratamiento. Además, se normaliza su presencia sin tomar en cuenta que puede llegar a causar incertidumbre, ansiedad, sentimientos de culpa y, como consecuencia, importante afectación de la calidad de vida, principalmente en los padres o cuidadores del niño. La necesidad de una guía de práctica clínica en nuestro país surge ante la alta presentación de complicaciones del hemangioma infantil referidas de manera tardía aun con la disponibilidad de tratamientos adecuados, la evolución continua de la medicina y la aparición de nueva evidencia. A lo largo de la guía se encontrarán recomendaciones en relación con el diagnóstico, el tratamiento y el seguimiento de los pacientes con hemangioma infantil, tomando en cuenta los paraclínicos que pueden realizarse, las opciones de manejo tópico o sistémico, y las terapias adyuvantes. Por primera vez se incluyen en una guía para el manejo del hemangioma infantil herramientas objetivas para el seguimiento de los pacientes, así como para ayudar al médico de primer contacto en su referencia oportuna.


Assuntos
Hemangioma , Humanos , Lactente , Seguimentos , Hemangioma/diagnóstico , Hemangioma/terapia , México , Qualidade de Vida
9.
J Nanobiotechnology ; 22(1): 372, 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38918811

RESUMO

Hemangioma of infancy is the most common vascular tumor during infancy and childhood. Despite the proven efficacy of propranolol treatment, certain patients still encounter resistance or face recurrence. The need for frequent daily medication also poses challenges to patient adherence. Bleomycin (BLM) has demonstrated effectiveness against vascular anomalies, yet its use is limited by dose-related complications. Addressing this, this study proposes a novel approach for treating hemangiomas using BLM-loaded hyaluronic acid (HA)-based microneedle (MN) patches. BLM is encapsulated during the synthesis of polylactic acid (PLA) microspheres (MPs). The successful preparation of PLA MPs and MN patches is confirmed through scanning electron microscopy (SEM) images. The HA microneedles dissolve rapidly upon skin insertion, releasing BLM@PLA MPs. These MPs gradually degrade within 28 days, providing a sustained release of BLM. Comprehensive safety assessments, including cell viability, hemolysis ratio, and intradermal reactions in rabbits, validate the safety of MN patches. The BLM@PLA-MNs exhibit an effective inhibitory efficiency against hemangioma formation in a murine hemangioma model. Of significant importance, RNA-seq analysis reveals that BLM@PLA-MNs exert their inhibitory effect on hemangiomas by regulating the P53 pathway. In summary, BLM@PLA-MNs emerge as a promising clinical candidate for the effective treatment of hemangiomas.


Assuntos
Bleomicina , Preparações de Ação Retardada , Sistemas de Liberação de Medicamentos , Hemangioma , Ácido Hialurônico , Agulhas , Poliésteres , Bleomicina/farmacologia , Animais , Camundongos , Coelhos , Hemangioma/tratamento farmacológico , Ácido Hialurônico/química , Preparações de Ação Retardada/química , Sistemas de Liberação de Medicamentos/métodos , Poliésteres/química , Humanos , Microesferas , Antibióticos Antineoplásicos/farmacologia , Antibióticos Antineoplásicos/uso terapêutico , Antibióticos Antineoplásicos/administração & dosagem , Antibióticos Antineoplásicos/farmacocinética , Liberação Controlada de Fármacos
11.
Lasers Med Sci ; 39(1): 164, 2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38935161

RESUMO

Telangiectasias are the most frequent type of sequelae of infantile hemangiomas after involution. Few studies have reported the treatment of telangiectasias with 595-nm pulsed dye lasers. Therefore, the objective of this study was to assess the efficacy and safety of a 595-nm pulsed dye laser for treating residual telangiectasias following hemangioma involution. This is a retrospective case series that analyzes the medical records and reviews the charts of 22 patients who had undergone 595-nm pulsed dye laser treatment for residual telangiectasias. Pre- and post-treatment digital images were independently assessed, and the changes were scored to ascertain the efficacy of the treatment (0 = no change, 4 = complete improvement). Of the 22 patients, 59.1% experienced complete resolution of telangiectasias following treatment. No serious complications or side effects were reported. The observations indicate that the 595-nm pulsed dye laser is effective and safe for treating residual telangiectasias following hemangioma involution.


Assuntos
Hemangioma , Lasers de Corante , Telangiectasia , Humanos , Estudos Retrospectivos , Lasers de Corante/uso terapêutico , Telangiectasia/radioterapia , Telangiectasia/cirurgia , Feminino , Masculino , Lactente , Hemangioma/radioterapia , Resultado do Tratamento , Pré-Escolar , Terapia com Luz de Baixa Intensidade/métodos
12.
Surg Endosc ; 38(7): 3957-3966, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38844729

RESUMO

BACKGROUND: Severe bleeding remains a significant concern in laparoscopic resection for hepatic hemangioma. It is rarely reported that how the degree of major vessels involvement impacts on severe bleeding. The present study primarily aimed to analyze the impacts of the number of involved major vessels (NIMV) during laparoscopic surgery for hepatic hemangioma and evaluate the risk factors associated with increased bleeding. METHODS: A database search was carried out for consecutive patients who underwent laparoscopic resection for liver hemangiomas at our department from January 2018 to December 2023. The collected data included demographics, characteristics of the hemangiomas, laboratory data, operation method, surgical and postoperative variables. RESULTS: A total of 72 patients were enrolled in the study. 42 patients were categorized into the group with NIMV < 2, while 30 patients were divided into the group with NIMV ≥ 2. The group with NIMV ≥ 2 demonstrated a significant correlation with special segments, involved multiple segments and diameter of the hemangiomas (P < 0.01). And the perioperative variables including the extent of resection, operative time, blood loss, Pringle maneuver times, postoperative stay, drainage tube duration, and postoperative liver function (ALT, AST) also showed significant differences between the two groups (P < 0.05). Notably, NIMV ≥ 2 was identified as the most important independent risk factor for intraoperative blood loss ≥ 500 ml in laparoscopic surgery for hepatic hemangioma (P = 0.011). For NIMV ≥ 2, the independent risk factor was special segments in multivariate analysis (P = 0.000). CONCLUSION: The involvement of multiple major vessels (NIMV ≥ 2) was significantly associated with special segments, resulting in increased intraoperative blood loss, operation difficulty, and delayed postoperative recovery. Moreover, it was identified as the single independent risk factor with a considerable risk for increased blood loss during laparoscopic resection for hepatic hemangioma.


Assuntos
Perda Sanguínea Cirúrgica , Hemangioma , Hepatectomia , Laparoscopia , Neoplasias Hepáticas , Duração da Cirurgia , Humanos , Hemangioma/cirurgia , Laparoscopia/métodos , Masculino , Feminino , Neoplasias Hepáticas/cirurgia , Pessoa de Meia-Idade , Hepatectomia/métodos , Hepatectomia/efeitos adversos , Perda Sanguínea Cirúrgica/estatística & dados numéricos , Adulto , Fatores de Risco , Estudos Retrospectivos , Idoso , Hemorragia Pós-Operatória/etiologia , Hemorragia Pós-Operatória/epidemiologia
13.
JBJS Case Connect ; 14(2)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38848412

RESUMO

CASE: We report a case of an intramuscular thigh hemangioma in a 19-year-old woman with a several year history of atraumatic thigh pain. Radiographs obtained by her primary care physician demonstrated periosteal bone reaction, prompting referral to Orthopaedic Oncology department. The patient had successful symptomatic management with propranolol. CONCLUSION: The case highlights the diagnosis and potential treatments. In a stepwise approach to care for symptomatic benign vascular lesions, propranolol has been a proven therapeutic option and may be a useful first-line therapy for symptomatic hemangiomas.


Assuntos
Hemangioma , Coxa da Perna , Humanos , Feminino , Coxa da Perna/diagnóstico por imagem , Hemangioma/diagnóstico por imagem , Adulto Jovem , Neoplasias Musculares/diagnóstico por imagem , Propranolol/uso terapêutico , Radiografia , Antagonistas Adrenérgicos beta/uso terapêutico
14.
Lasers Med Sci ; 39(1): 150, 2024 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-38836959

RESUMO

PURPOSE: To investigate the swept-source optical coherence tomography (SS-OCT) and SS-OCT angiography (SS-OCTA) findings in circumscribed choroidal hemangioma (CCH) before and after treatment with transpupillary thermotherapy (TTT). METHODS: The clinical records of 21 eyes having CCH imaged with SS-OCT/SS-OCTA between September 2018 and December 2022 were evaluated. RESULTS: SS-OCT examination in CCH showed dome-shaped appearance (100%), choroidal shadowing (100%), expansion of choroidal structures (100%), subretinal fluid (66.7%), intraretinal edema/schisis (33.3%), retinal pigment epithelium (RPE) atrophy (19.0%), hyperreflective dots (19.0%), and epiretinal membrane (4.8%). Internal arborizing tumor vessels showing hyperreflectivity were observed in the choriocapillaris slab on SS-OCTA in all eyes. In the deep capillary plexus (DCP), flow void changes were seen in 7 eyes with intraretinal schisis/cystoid macular edema. Four CCHs > 2 mm in thickness showed outer retinal involvement due to unmasking of flow in intratumoral vessels related to RPE atrophy. Following TTT/indocyanine green-enhanced TTT (ICG-TTT) of CCH, SS-OCT findings included total/partial resolution of subretinal fluid (57.1%), complete/partial regression of the tumor (52.4%), and RPE atrophy (33.3%). After treatment; loss of choriocapillaris, decrease in tumor vascularity together with increase in the fibrous component and flow void areas were detected on SS-OCTA. CONCLUSIONS: SS-OCT/SS-OCTA are useful non-invasive tools for imaging the structural/vascular changes in CCHs managed with TTT or ICG-TTT. On SS-OCTA, hyporeflective spaces localizing to edema/schisis in the DCP and arborizing tumor vessels within a hyporeflective stromal background in the choriocapillaris slab were observed. After TTT/ICG-TTT, a decrease in tumor vessels and an increase in the fibrous component and flow-void areas inside the CCH were detected on SS-OCTA.


Assuntos
Neoplasias da Coroide , Hemangioma , Hipertermia Induzida , Tomografia de Coerência Óptica , Humanos , Tomografia de Coerência Óptica/métodos , Neoplasias da Coroide/terapia , Neoplasias da Coroide/diagnóstico por imagem , Neoplasias da Coroide/patologia , Feminino , Pessoa de Meia-Idade , Masculino , Hemangioma/terapia , Hemangioma/diagnóstico por imagem , Hemangioma/patologia , Adulto , Hipertermia Induzida/métodos , Idoso , Angiofluoresceinografia/métodos , Estudos Retrospectivos , Corioide/diagnóstico por imagem , Corioide/irrigação sanguínea , Corioide/patologia
15.
J Am Coll Radiol ; 21(6S): S310-S325, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38823953

RESUMO

Soft tissue vascular anomalies may be composed of arterial, venous, and/or lymphatic elements, and diagnosed prenatally or later in childhood or adulthood. They are divided into categories of vascular malformations and vascular tumors. Vascular malformations are further divided into low-flow and fast-flow lesions. A low-flow lesion is most common, with a prevalence of 70%. Vascular tumors may behave in a benign, locally aggressive, borderline, or malignant manner. Infantile hemangioma is a vascular tumor that presents in the neonatal period and then regresses. The presence or multiple skin lesions in an infant can signal underlying visceral vascular anomalies, and complex anomalies may be associated with overgrowth syndromes. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Assuntos
Sociedades Médicas , Malformações Vasculares , Humanos , Malformações Vasculares/diagnóstico por imagem , Estados Unidos , Medicina Baseada em Evidências , Lactente , Neoplasias Vasculares/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Recém-Nascido , Criança , Diagnóstico por Imagem/métodos , Hemangioma/diagnóstico por imagem , Guias de Prática Clínica como Assunto
16.
Int J Nanomedicine ; 19: 6127-6143, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38911507

RESUMO

Targeted therapy for infantile hemangiomas (IHs) has been extensively studied as they can concentrate drugs, increase therapeutic efficacy and reduce drug dosage. Meanwhile, they can extend drug release times, enhance drug stability, decrease dosing frequency, and improve patient compliance. Moreover, carriers made from biocompatible materials reduced drug immunogenicity, minimizing adverse reactions. However, current targeted formulations still face numerous challenges such as the non-absolute safety of carrier materials; the need to further increase drug loading capacity; the limitation of animal hemangioma models in fully replicating the biological properties of human infantile hemangiomas; the establishment of models for deep-seated hemangiomas with high incidence rates; and the development of more specific targets or markers. In this review, we provided a brief overview of the characteristics of IHs and summarized the past decade's advances, advantages, and targeting strategies of targeted drug delivery systems for IHs and discussed their applications in the treatment of IHs. Furthermore, the goal is to provide a reference for further research and application in this field.


Assuntos
Hemangioma , Humanos , Animais , Hemangioma/tratamento farmacológico , Lactente , Sistemas de Liberação de Medicamentos/métodos , Portadores de Fármacos/química , Antineoplásicos/administração & dosagem , Antineoplásicos/uso terapêutico
17.
Vestn Oftalmol ; 140(2): 5-13, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38742493

RESUMO

Circumscribed choroidal hemangioma (CCH) and early non-pigmented choroidal melanoma (CM) have similar clinical, ultrasound and morphometric features, which in some cases makes their differential diagnosis difficult. There are few studies in the literature devoted to a comparative analysis of the molecular genetic features of CCH and non-pigmented CM, and the results of those studies are contradictory. PURPOSE: This study attempts to develop a method of non-invasive molecular genetic differential diagnostics of CCH and non-pigmented CM. MATERIAL AND METHODS: Based on the results of clinical and instrumental examination methods, 60 patients (60 eyes) with CCH (n=30) and non-pigmented CM (n=30) were included in this prospective study. The control group consisted of 30 individuals without intraocular tumors. Mutations in the GNAQ/GNA11 genes were determined by real-time PCR using the analysis of genomic circulating tumor DNA isolated from peripheral blood plasma. The average follow-up period was 12.1±1.8 months. RESULTS: The study revealed a significant association of mutations in exons 4 and 5 of the GNAQ/GNA11 genes with the presence of non-pigmented CM (27/30; 90%). These mutations were not detected in the group of patients with CCH. Mutations in exons 4 and 5 of the GNAQ/GNA11 genes were also not detected in the control group of healthy individuals. CONCLUSION: This study proposes a method of non-invasive and low-cost differential diagnostics based on molecular genetic analysis and detection of mutations in exons 4 and 5 of the GNAQ and GNA11 genes, which are specific for CM (90%).


Assuntos
Neoplasias da Coroide , Hemangioma , Melanoma , Humanos , Neoplasias da Coroide/genética , Neoplasias da Coroide/diagnóstico , Masculino , Feminino , Pessoa de Meia-Idade , Diagnóstico Diferencial , Hemangioma/genética , Hemangioma/diagnóstico , Adulto , Melanoma/genética , Melanoma/diagnóstico , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Mutação , Corioide/diagnóstico por imagem , Corioide/patologia , Subunidades alfa de Proteínas de Ligação ao GTP/genética , Estudos Prospectivos
18.
Chest ; 165(5): e137-e142, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38724152

RESUMO

CASE PRESENTATION: A newborn girl presented to the hospital on the first day of life because of respiratory failure. She was born at home at 37 weeks' gestation with minimal prenatal care and was found to be small for gestational age. The patient was found to have partial sternal agenesis and sternal cleft, cutis aplasia, left facial hemangioma, micrognathia, wide-spaced nipples, and low-set ears. The mother's and baby's urine toxicology screening were positive for amphetamines. Chest radiographs on admission showed bilateral hazy opacities. CT scan of the chest showed an absent sternum with midline chest wall concavity. The patient was monitored preoperatively in the cardiac ICU for risks of arrythmia, respiratory failure, altered cardiac output, and acute cardiopulmonary decompensation.


Assuntos
Esterno , Humanos , Feminino , Esterno/anormalidades , Esterno/diagnóstico por imagem , Recém-Nascido , Anormalidades Múltiplas/diagnóstico , Tomografia Computadorizada por Raios X , Hemangioma/diagnóstico , Hemangioma/complicações , Hemangioma/diagnóstico por imagem , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/diagnóstico
19.
Kurume Med J ; 70(1.2): 69-72, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38763740

RESUMO

A 35-year-old pregnant woman was referred to our institution at 33 weeks' gestation for evaluation of a fetal abdominal tumor. B-mode ultrasonography demonstrated a massive lesion. Bidirectional power Doppler mode showed abundant blood flow surrounding the tumor. On superb micro-vascular imaging, various Doppler signal patterns were observed within the tumor, including diffuse fine dotted-like signals, linear flow, and internal shunt flow. Sequential observations of the tumor and cardiac cycles also revealed pulsatile flow beneath the edges of the tumor and continuous fine flow in the central area, resembling a 'centripetal fill-in' appearance on contrast computed tomography. Therefore, we assumed the fetal tumor to be a hepatic hemangioma. Fetal heart failure was detected at 37 weeks' gestation, and a 2,484-g female infant was delivered with 1- and 5-min Apgar scores of 7 and 8, respectively. A postnatal contrast computed tomography examination showed a progressive centripetal fill-in appearance, leading to a diagnosis of hepatic hemangioma. Kasabach-Merritt syndrome was also noted. Intensive treatment was performed, and the infant was discharged at 3 months after birth. In summary, we experienced a case of hepatic hemangioma diagnosed in utero using superb micro-vascular imaging. And basing seamless postnatal treatments on prenatal imaging findings may help to reduce the perinatal mortality.


Assuntos
Hemangioma , Neoplasias Hepáticas , Ultrassonografia Pré-Natal , Humanos , Feminino , Neoplasias Hepáticas/diagnóstico por imagem , Gravidez , Adulto , Hemangioma/diagnóstico por imagem , Ultrassonografia Doppler , Recém-Nascido , Síndrome de Kasabach-Merritt/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Microvasos/diagnóstico por imagem
20.
Jt Dis Relat Surg ; 35(2): 417-421, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38727123

RESUMO

Although hemangiomas are the most common soft tissue tumors, intramuscular hemangiomas account for only 0.8% of all vascular tumors. These lesions are rarely located adjacent to the bone and cause changes in the adjacent bone. They are often mistakenly diagnosed as bone tumors. In this study, a case of a 19-year-old male patient with intramuscular hemangioma causing cortical thickening was reported.


Assuntos
Neoplasias Ósseas , Hemangioma , Hipertrofia , Neoplasias Musculares , Humanos , Masculino , Hemangioma/patologia , Hemangioma/diagnóstico , Hemangioma/diagnóstico por imagem , Diagnóstico Diferencial , Adulto Jovem , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/patologia , Neoplasias Musculares/patologia , Neoplasias Musculares/diagnóstico por imagem , Neoplasias Musculares/diagnóstico , Hipertrofia/patologia , Imageamento por Ressonância Magnética , Osso Cortical/patologia , Osso Cortical/diagnóstico por imagem , Tomografia Computadorizada por Raios X
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