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2.
Rozhl Chir ; 99(10): 467-471, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33242965

RESUMO

Pulmonary arteriovenous malformation (PAVM) is formed by abnormal connections between pulmonary arteries and veins that bypass the pulmonary capillaries and transport deoxygenated blood through pulmonary veins to the left heart. This causes insufficient oxygenation of blood in the lungs. This condition remains symptomless for a long period of time. The most common symptoms include shortness of breath on exertion, nosebleeds, increased fatigue and a gradual development of cyanosis. Paradoxical embolism in the brain is a serious complication; it can present with a stroke or a brain abscess. Treatment of the disease consists of embolization of the pathological vascular connections, surgical resection of the affected pulmonary parenchyma and management of concomitant manifestations of the disease. PAVM in most common cases arises as a result of an autosomal dominant hereditary disorder referred to as hereditary hemorrhagic telangiectasia.  Case report: In our communication, we document the diagnostic and therapeutic management in a young patient diagnosed with PAVM after falling off his bicycle. Based on comprehensive assessments, AV malformations with a 40% shunt of the pulmonary circulation were detected. An angiographic procedure was not an appropriate option considering the type and extent of the condition. Therefore, video-assisted thoracic resection of the affected pulmonary lobe was indicated. Conclusion: PAVM is a rare finding. PAVM should be ruled out in all patients with hereditary hemorrhagic telangiectasia (HHT) signs in the oral cavity. Contrast sonography of the heart and contract CT of the chest are the methods of choice for the diagnosis. Conservative or pharmacological treat-ment fails to improve the patients status.  The condition is usually managed by embolization. Cases where PAVM is rather extensive or diffuse, where endovascular management would be inappropriate, can be well managed using endoscopic resection adequate to the extent of the condition.


Assuntos
Malformações Arteriovenosas , Veias Pulmonares , Telangiectasia Hemorrágica Hereditária , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/cirurgia , Humanos , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/cirurgia , Veias Pulmonares/diagnóstico por imagem , Veias Pulmonares/cirurgia , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/cirurgia , Cirurgia Torácica Vídeoassistida
3.
No Shinkei Geka ; 48(11): 1051-1057, 2020 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-33199663

RESUMO

A 23-year-old woman was referred to our hospital with progressive headache and back pain. Cerebrospinal fluid(CSF)analysis revealed hypoglycorrhachia and pleocytosis. However, imaging studies did not reveal evidence of subarachnoid hemorrhage(SAH), and she was diagnosed with bacterial meningitis. CSF analysis repeated after antibiotic treatment continued to show evidence of blood. Spinal SAH was suspected, and MRI revealed a spinal arteriovenous malformation(AVM). Spinal digital subtraction angiography revealed the nidus and a feeder aneurysm, which was implicated as the source of bleeding;therefore, she was diagnosed with spinal SAH secondary to spinal intramedullary AVM(SAVM). She underwent endovascular treatment for the spinal aneurysm and was discharged without worsening neurological symptoms. SAVMs presenting without neurological findings and/or evidence of bleeding on plain CT images are diagnostically challenging;notably, findings on CSF analysis could mimic those observed in cases of infectious disease. We should cite vascular diseases such as SAVM.


Assuntos
Malformações Arteriovenosas , Meningites Bacterianas , Hemorragia Subaracnóidea , Adulto , Angiografia Digital , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/cirurgia , Feminino , Humanos , Meningites Bacterianas/diagnóstico , Meningites Bacterianas/tratamento farmacológico , Coluna Vertebral , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/etiologia , Adulto Jovem
4.
Sci Rep ; 10(1): 16355, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-33004952

RESUMO

Very high temporal and spatial resolution is mandatory for the diagnosis of arteriovenous malformations (AVM) of the hand. Until now, magnetic resonance imaging (MRI) has not fulfilled both requirements simultaneously. This study presents how the combination of a very fast TWIST MRI (time-resolved angiography with interleaved stochastic trajectories) sequence and iterative reconstructions optimizes temporal as well as spatial resolution. 11 patients were examined at a 3-T MRI scanner with two different TWIST protocols: the standard and the study protocol, acquiring a data set every 5.57 s and 1.44 s respectively. The study data was retrospectively iteratively reconstructed with different regularization factors (0.001, 0.002, 0.004, 0.008). Results were compared using the sign-test. P-values < 0.05 were regarded statistically significant. With a low amount of contrast medium, the temporal resolution of the study protocol enabled the differentiation of arteries from veins in all patients whereas the signal-to-noise ratio (SNR) deteriorated. Depending on the regularization factors, SNR, delineation of arterial feeders and non-involved hand and interdigital arteries, as well as artefact levels varied. Overall, iterative reconstruction with regularization factor 0.004 achieved the best results, consequently showing the ability of MRI as a reliable diagnostic method in AVMs of the hand.


Assuntos
Malformações Arteriovenosas/diagnóstico por imagem , Mãos/irrigação sanguínea , Mãos/diagnóstico por imagem , Angiografia por Ressonância Magnética/métodos , Adulto , Idoso , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
5.
No Shinkei Geka ; 48(10): 895-901, 2020 Oct.
Artigo em Japonês | MEDLINE | ID: mdl-33071224

RESUMO

We report the initial experience of the distal radial approach(DRA)via the anatomical snuffbox for various neuroendovascular procedures. DRA was attempted in 16 patients and catheterization of the targeted vessel was successfully performed in 15. In one patient, the puncture was successful, but the wire could not be advanced into the radial artery and a switch to the conventional transradial approach was needed. Among the 15 patients who underwent successful DRA, five patients underwent diagnostic cerebral angiography, five underwent coil embolization of a cerebral aneurysm, three underwent carotid artery stenting, one underwent liquid embolization of an arteriovenous malformation, and one underwent liquid embolization of a chronic subdural hematoma. Operability during the procedures was favorable and good hemostasis was obtained in all cases. There were no complications related to this approach. Our initial experience demonstrates that DRA is technically feasible for various neuroendovascular procedures. It can be a less invasive alternative to the conventional approach.


Assuntos
Malformações Arteriovenosas , Embolização Terapêutica , Humanos , Punções , Artéria Radial/diagnóstico por imagem , Artéria Radial/cirurgia , Stents
6.
Radiology ; 297(2): 438-446, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32930651

RESUMO

Background Iron oxide nanoparticles are an alternative contrast agent for MRI. Gadolinium deposition has raised safety concerns, but it is unknown whether ferumoxytol administration also deposits in the brain. Purpose To investigate whether there are signal intensity changes in the brain at multiecho gradient imaging following ferumoxytol exposure in children and young adults. Materials and Methods This retrospective case-control study included children and young adults, matched for age and sex, with brain arteriovenous malformations who received at least one dose of ferumoxytol from January 2014 to January 2018. In participants who underwent at least two brain MRI examinations (subgroup), the first and last available examinations were analyzed. Regions of interests were placed around deep gray structures on quantitative susceptibility mapping and R2* images. Mean susceptibility and R2* values of regions of interests were recorded. Measurements were assessed by linear regression analyses: a between-group comparison of ferumoxytol-exposed and unexposed participants and a within-group (subgroup) comparison before and after exposure. Results Seventeen participants (mean age ± standard deviation, 13 years ± 5; nine male) were in the ferumoxytol-exposed (case) group, 21 (mean age, 14 years ± 5; 11 male) were in the control group, and nine (mean age, 12 years ± 6; four male) were in the subgroup. The mean number of ferumoxytol administrations was 2 ± 1 (range, one to four). Mean susceptibility (in parts per million [ppm]) and R2* (in inverse seconds [sec-1]) values of the dentate (case participants: 0.06 ppm ± 0.04 and 23.87 sec-1 ± 4.13; control participants: 0.02 ppm ± 0.03 and 21.7 sec-1 ± 5.26), substantia nigrae (case participants: 0.08 ppm ± 0.06 and 27.46 sec-1 ± 5.58; control participants: 0.04 ppm ± 0.05 and 24.96 sec-1 ± 5.3), globus pallidi (case participants: 0.14 ppm ± 0.05 and 30.75 sec-1 ± 5.14; control participants: 0.08 ppm ± 0.07 and 28.82 sec-1 ± 6.62), putamina (case participants: 0.03 ppm ± 0.02 and 20.63 sec-1 ± 2.44; control participants: 0.02 ppm ± 0.02 and 19.65 sec-1 ± 3.6), caudate (case participants: -0.1 ppm ± 0.04 and 18.21 sec-1 ± 3.1; control participants: -0.06 ppm ± 0.05 and 18.83 sec-1 ± 3.32), and thalami (case participants: 0 ppm ± 0.03 and 16.49 sec-1 ± 3.6; control participants: 0.02 ppm ± 0.02 and 18.38 sec-1 ± 2.09) did not differ between groups (susceptibility, P = .21; R2*, P = .24). For the subgroup, the mean interval between the first and last ferumoxytol administration was 14 months ± 8 (range, 1-25 months). Mean susceptibility and R2* values of the dentate (first MRI: 0.06 ppm ± 0.05 and 25.78 sec-1 ± 5.9; last MRI: 0.06 ppm ± 0.02 and 25.55 sec-1 ± 4.71), substantia nigrae (first MRI: 0.06 ppm ± 0.06 and 28.26 sec-1 ± 9.56; last MRI: 0.07 ppm ± 0.06 and 25.65 sec-1 ± 6.37), globus pallidi (first MRI: 0.13 ppm ± 0.07 and 27.53 sec-1 ± 8.88; last MRI: 0.14 ppm ± 0.06 and 29.78 sec-1 ± 6.54), putamina (first MRI: 0.03 ppm ± 0.03 and 19.78 sec-1 ± 3.51; last MRI: 0.03 ppm ± 0.02 and 19.73 sec-1 ± 3.01), caudate (first MRI: -0.09 ppm ± 0.05 and 21.38 sec-1 ± 4.72; last MRI: -0.1 ppm ± 0.05 and 18.75 sec-1 ± 2.68), and thalami (first MRI: 0.01 ppm ± 0.02 and 17.65 sec-1 ± 5.16; last MRI: 0 ppm ± 0.02 and 15.32 sec-1 ± 2.49) did not differ between the first and last MRI examinations (susceptibility, P = .95; R2*, P = .54). Conclusion No overall significant differences were found in susceptibility and R2* values of deep gray structures to suggest retained iron in the brain between ferumoxytol-exposed and unexposed children and young adults with arteriovenous malformations and in those exposed to ferumoxytol over time. © RSNA, 2020.


Assuntos
Malformações Arteriovenosas/diagnóstico por imagem , Encéfalo/metabolismo , Meios de Contraste/administração & dosagem , Óxido Ferroso-Férrico/administração & dosagem , Ferro/metabolismo , Imagem por Ressonância Magnética/métodos , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Adulto Jovem
7.
J Vasc Interv Radiol ; 31(11): 1801-1809, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32951973

RESUMO

PURPOSE: To evaluate treatment outcomes of embolization for peripheral arteriovenous malformations (AVMs) in a tertiary referral center where ethanol is the primary agent of choice. METHODS: A retrospective study was performed of 93 patients (median age, 31 years; range, 2-66 years) with peripheral AVMs treated with embolization (n = 442; median, 2 per patient; range, 1-82) between January 2010 and July 2016. Ethanol was used in most cases (n = 428; 97%). AVMs were classified as type I (n = 3), type II (n = 57), type IIIa (n = 5), type IIIb (n = 15), and type IV (n = 13) according to the Yakes classification system. Effectiveness of embolization was based on AVM devascularization on angiography: 100% (total), 90%-99% (near-total), 70%-90% (substantial), 30%-70% (partial), and 0%-30% (failure). Complications were graded according to the Society of Interventional Radiology classification. RESULTS: In 69% of patients, 70%-100% devascularization was achieved. Total and near-total occlusion of the nidus were more often achieved in AVMs of types I and IIIa (both 100%) than in AVMs of types II, IIIb, and IV (56%, 67%, and 39%, respectively; P = .019). A total of 109 complications were identified: 101 minor (22.9%) and 8 major (1.8%). Major complications included wounds (n = 5), false aneurysm (n = 1), finger contracture (n = 1), and severe pain (n = 1) requiring therapy. The patient complication risk was significantly affected by the number of procedures (relative risk = 2.0; P < .001). Age, AVM location, and angioarchitecture type did not significantly affect complication risk. CONCLUSIONS: AVM embolization resulted in 70%-100% devascularization in 69% of patients, with few major complications. This study indicates that the type of AVM angioarchitecture affects the number of procedures needed and the achievability of AVM devascularization.


Assuntos
Malformações Arteriovenosas/terapia , Embolização Terapêutica , Etanol/administração & dosagem , Adolescente , Adulto , Idoso , Malformações Arteriovenosas/diagnóstico por imagem , Criança , Pré-Escolar , Embolização Terapêutica/efeitos adversos , Etanol/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Adulto Jovem
8.
J Vasc Interv Radiol ; 31(11): 1810-1816, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32958379

RESUMO

PURPOSE: To evaluate endovascular treatment of head and neck arteriovenous malformations (AVMs) based on the Yakes AVM classification and correlate treatment approach with clinical and angiographic outcomes. MATERIALS AND METHODS: A retrospective single-center study was performed in patients who underwent endovascular treatment of head and neck AVMs between January 2005 and December 2017. Clinical and operative records, imaging, and postoperative courses of patients were reviewed. Clinical stage was determined according to the Schobinger classification. AVM architecture and treatment approaches were determined according to the Yakes classification. Primary outcomes were clinical and angiographic treatment success rates and complication rates, with analysis according to the Yakes classification. RESULTS: A total of 29 patients (15 females) were identified, with a mean age of 30.6 years. Downgrading of the Schobinger clinical classification was achieved in all patients. Lesions included 8 Yakes type IIa, 5 type IIb, 1 type IIIa and IIIb, and 14 type IV. Lesions were treated using an intra-arterial, nidal, or transvenous approach, using ethanol and liquid embolic agents. Arteriovenous shunt eradication of >90% was achieved in 22 of 28 patients (79%), including 9 of 13 (69%) of Yakes type IV lesions and 13 of 15 (87%) of the other types. There were 5 significant complications in 79 procedures (6%), including 4 of 50 (8%) in Yakes type IV lesions. CONCLUSIONS: Schobinger stage was downgraded in all patients. Arteriovenous shunt eradication of >90% was achieved in most patients. Yakes type IV lesions required more sessions, and shunt eradication was higher in the Yakes II and III groups.


Assuntos
Malformações Arteriovenosas/terapia , Embolização Terapêutica , Procedimentos Endovasculares , Etanol/administração & dosagem , Cabeça/irrigação sanguínea , Pescoço/irrigação sanguínea , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Malformações Arteriovenosas/classificação , Malformações Arteriovenosas/diagnóstico por imagem , Criança , Pré-Escolar , Embolização Terapêutica/efeitos adversos , Embolização Terapêutica/instrumentação , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/instrumentação , Etanol/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
10.
Clin Nucl Med ; 45(12): 1026-1028, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32969907

RESUMO

A patient with multiple episodes of gastrointestinal bleeding underwent Tc-labeled red blood cell scintigraphy to detect the source of bleeding, which showed a focally increased activity in the upper midabdomen. SPECT/CT demonstrated that the activity was located in the pancreatic head. Angiography confirmed the diagnosis of pancreatic arteriovenous malformation. After transarterial embolization therapy, the patient no longer had bleeding episode. Based on the present case, pancreatic arteriovenous malformation should be included as differential diagnosis during Tc-red blood cell scintigraphy.


Assuntos
Malformações Arteriovenosas/diagnóstico por imagem , Achados Incidentais , Pâncreas/irrigação sanguínea , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único , Angiografia , Malformações Arteriovenosas/terapia , Embolização Terapêutica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
12.
J Stroke Cerebrovasc Dis ; 29(12): 105301, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32992168

RESUMO

Pulmonary arteriovenous malformations (PAVMs) are pathologic low-resistance conduits between a pulmonary artery and vein. Over 80% PAVMs occur in patients with hereditary hemorrhagic telangiectasia (HHT) and result from mutations in the transforming growth factor-beta signaling pathway. Mutations in the Growth Differentiation Factor 2 (GDF2) gene have recently been described to result in a vascular-anomaly syndrome with phenotypic overlap with HHT. We report a 43-year-old woman with a PAVM related ischemic stroke who was subsequently found to have a novel GDF2 gene mutation. The patient underwent coil-embolization of the PAVM with stable clinical and radiographic follow-up. It is important to diagnose PAVMs as they are an important cause of stroke-in-young; and can be treated definitively, reducing risk of recurrent stroke and migraine.


Assuntos
Malformações Arteriovenosas/genética , Fator 2 de Diferenciação de Crescimento/genética , Mutação de Sentido Incorreto , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Adulto , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/terapia , Isquemia Encefálica/etiologia , Embolização Terapêutica , Feminino , Predisposição Genética para Doença , Humanos , Fenótipo , Artéria Pulmonar/diagnóstico por imagem , Veias Pulmonares/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Resultado do Tratamento
14.
BMC Neurol ; 20(1): 316, 2020 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-32847536

RESUMO

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in endothelial homeostasis such as ENG (endoglin) and ACVRL1 (activin receptor-like kinase-1). CASE PRESENTATION: Here we describe a 22-year-old male presenting with a transient episode of slurred speech and left arm paresis. Brain MRI displayed polymicrogyria. A right-to-left shunt in absence of an atrial septum defect was noted. Chest CT revealed multiple pulmonary AVMs, likely causing paradoxical embolism manifesting as a transient ischemic attack. The heterozygous ENG variant, c.3G > A (p.Met1lle), was detected in the patient. This variant was also found in patient's mother and in his younger brother who displayed cortical dysplasia type 2. CONCLUSIONS: The detection of cortical development malformations in multiple subjects from the same pedigree may expand the phenotypic features of ENG-related HHT patients. We suggest considering HHT in young patients presenting with acute cerebral ischemic events of unknown origin.


Assuntos
Endoglina/genética , Malformações do Desenvolvimento Cortical/genética , Telangiectasia Hemorrágica Hereditária/diagnóstico , Receptores de Activinas Tipo II/genética , Fístula Arteriovenosa/diagnóstico , Malformações Arteriovenosas/genética , Heterozigoto , Humanos , Masculino , Mutação , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Telangiectasia Hemorrágica Hereditária/genética , Tomografia Computadorizada por Raios X , Adulto Jovem
16.
Pediatrics ; 146(3)2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32859736

RESUMO

Arteriovenous malformations (AVMs) have recently been reported to have a high incidence of somatic KRAS mutations suggesting potential for treatment with mitogen-activated protein kinase inhibitors. In this case report, we describe genotype-targeted treatment of a KRAS mutant metameric AVM in a patient with Cobb syndrome using the mitogen-activated protein kinase inhibitor trametinib. Therapeutic response was monitored with phase-contrast magnetic resonance angiography to quantify AVM arterial inflow as an imaging biomarker. Treatment with trametinib resulted in a substantial decrease in blood flow to the AVM, with a >75% reduction in arterial inflow after 6 months of trametinib therapy.


Assuntos
Malformações Arteriovenosas/tratamento farmacológico , Genótipo , Inibidores de Proteínas Quinases/administração & dosagem , Proteínas Proto-Oncogênicas p21(ras)/genética , Piridonas/administração & dosagem , Pirimidinonas/administração & dosagem , Doenças da Medula Espinal/tratamento farmacológico , Adolescente , Sequência de Aminoácidos , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/genética , Sistemas de Liberação de Medicamentos/métodos , Humanos , Masculino , Proteínas Proto-Oncogênicas p21(ras)/antagonistas & inibidores , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/genética , Síndrome , Resultado do Tratamento
17.
Zhonghua Er Ke Za Zhi ; 58(8): 674-678, 2020 Aug 02.
Artigo em Chinês | MEDLINE | ID: mdl-32842389

RESUMO

Objective: To analyze the clinical features of 2 children with hereditary hemorrhagic telangiectasia (HHT) and review relevant literature. Methods: The clinical data of 2 children with HHT who were admitted to Beijing Children's Hospital, Capital Medical University from February 2017 to June 2018 were retrospectively analyzed. Meanwhile, the relevant papers published before December 2019 in Wanfang and Pubmed database were searched with the key words of "hereditary hemorrhagic telangiectasia" in Chinese and English, and reviewed. Results: The first case was an 11-year-old boy, presented with fever and cough for 6 days. His past history revealed 3 times of left pneumonia and mild epistaxis. Ultrasound of the chest soft tissue found hemangioma and vascular malformation. Enhanced CT with vascular reconstruction suggested pulmonary arteriovenous malformation and multiple arteriovenous fistulas in the liver. After being treated with interventional pulmonary arteriovenous fistula embolization, his condition improved. The second case was a 12-year-old girl, presented with iron deficiency anemia during the past 3 years. Endoscopic resection of polyps had been performed before due to multiple polyps in the colon. High-resolution lung CT revealed multiple ground-glass nodules in bilateral lungs. Ultrasound of the digestive tract suggested small intestine polyps and secondary chronic loose intussusception. After admission, small bowel intussusception reduction was performed, and the polyps were ligated. Her whole exon gene testing suggested SMAD4 heterozygous variation. In the large number of reported cases, HHT1 and HHT2 are the main type. Conclusions: Children with HHT may present with anemia and repeated intestinal polyps. It is worth noting that visceral arteriovenous malformations, such as pulmonary arteriovenous malformations, which is easily misdiagnosed as recurrent pneumonia, can also occur in children with HHT. Enhanced CT with vascular reconstruction can help find pulmonary arteriovenous malformation, and timely genetic test can confirm the diagnosis.


Assuntos
Fístula Arteriovenosa/complicações , Malformações Arteriovenosas/diagnóstico , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/diagnóstico , Fístula Arteriovenosa/cirurgia , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/etiologia , Criança , Tosse/etiologia , Feminino , Febre/etiologia , Humanos , Fígado/diagnóstico por imagem , Masculino , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Estudos Retrospectivos , Telangiectasia Hemorrágica Hereditária/genética , Tomógrafos Computadorizados
18.
Medicine (Baltimore) ; 99(31): e21432, 2020 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-32756152

RESUMO

INTRODUCTION: A cesarean scar pregnancy (CSP), when combined with an arteriovenous malformation (AVM), is a rare, but potentially life-threatening condition that may be associated with uncontrolled hemorrhage. Hysterectomy is indicated when conservative treatment fails. Preservation of fertility is challenging. PATIENT CONCERNS: We reported a 33-year-old woman with a CSP combined with an AVM who failed methotrexate administration as conservative treatment. DIAGNOSES: A CSP combined with an AVM was diagnosed via three-dimensional color Doppler angiogram and magnetic resonance imaging. INTERVENTIONS: Transvaginal removal of the ectopic gestation and repair of the uterine defect was performed without incident. OUTCOMES: The fertility of the patient was preserved and hysterectomy was avoided. CONCLUSION: Transvaginal fertility-sparing surgery may be successfully performed to prevent hysterectomy when conservative treatment fails in patients with a CSP combined with an AVM.


Assuntos
Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/cirurgia , Cicatriz/patologia , Preservação da Fertilidade/métodos , Adulto , Angiografia/métodos , Antimetabólitos Antineoplásicos/administração & dosagem , Antimetabólitos Antineoplásicos/uso terapêutico , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/tratamento farmacológico , Cesárea/efeitos adversos , Cicatriz/cirurgia , Feminino , Humanos , Imageamento Tridimensional/métodos , Imagem por Ressonância Magnética/métodos , Metotrexato/administração & dosagem , Metotrexato/uso terapêutico , Gravidez , Gravidez Ectópica/cirurgia , Resultado do Tratamento , Ultrassonografia Doppler em Cores/métodos
19.
Sci Rep ; 10(1): 12046, 2020 07 21.
Artigo em Inglês | MEDLINE | ID: mdl-32694548

RESUMO

Intraosseous arteriovenous malformations in jaws (j-AVMs) are rare congenital high-flow vascular anomalies with a high tendency of life-threatening haemorrhage and are regarded as one of the most dangerous haemorrhagic diseases in maxillofacial region. Pre-treatment clinical and imaging evaluations serve as the most important diagnostic modalities. A retrospective study involved 211 patients with j-AVMs from November 2003 to November 2017 was performed. The male-to-female ratio of j-AVMs was approximately 4:3. The mean age of the patients with j-AVMs is 21.86. Bleeding was the main complaint associated with j-AVMs. J-AVMs occurred in the mandible more often than in the maxilla (64.93% and 32.23%, respectively). Most j-AVMs (95.26%) occurred in the posterior teeth region. Classical imaging features of j-AVMs included: an unclear maxillary sinus with a mild ground-glass appearance (maxillary j-AVMs) and a clear oval or irregular lucency that is mostly centred on the root of the first molar (mandibular j-AVMs) on OPGs, enhancement in the cancellous bone on contrast-enhanced CTs. Other atypical features of j-AVMs were also concluded. A comprehensive diagnose system based on clinical and imaging features of j-AVMs could provide valuable reference data for clinical management of j-AVMs and help avoid improper iatrogenic trauma or delayed treatment.


Assuntos
Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/patologia , Diagnóstico por Imagem , Arcada Osseodentária/irrigação sanguínea , Fenótipo , Adolescente , Adulto , Criança , Pré-Escolar , Diagnóstico por Imagem/métodos , Feminino , Humanos , Aumento da Imagem , Masculino , Pessoa de Meia-Idade , Radiografia Panorâmica , Avaliação de Sintomas , Tomografia Computadorizada por Raios X , Adulto Jovem
20.
Zhonghua Er Ke Za Zhi ; 58(7): 591-595, 2020 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-32605345

RESUMO

Objective: To study the clinical characteristics and current treatment of neonatal capillary malformation-arteriovenous malformation (CM-AVM). Methods: Clinical data of a newborn diagnosed with neonatal CM-AVM caused by RASA1 gene variation admitted to Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine was retrospectively analyzed, and related literature was reviewed. Databases of CNKI, WanFang, and Pubmed were searched for the literature from January 1, 2009 to December 31, 2018, with the keywords of "capillary malformation-arteriovenous malformation" "neonatal" and "RASA1 gene" . The clinical features of neonatal CM-AVM were summarized. Results: A one-day-old male infant was admitted to hospital due to swelling of both lower extremities with erythema with elevated skin temperature, who later presented with acute heart failure on the third day of hospitalization. A giant spinal arteriovenous fistula was identified by abdominal contrast-enhanced computed tomography and digital subtraction angiography. After surgical ligation of two feeding arteries, both heart failure and lower limb swelling improved. Genetic testing detected a novel paternal heterozygous variation of RASA1 gene. Digital subtraction angiography showed that spinal AVM still exist at the age of 6 months, but the heart function was good. A total of 4 cases of neonatal CM-AVM had been reported in 3 papers. According to these 5 cases, the clinical manifestations of neonatal CM-AVM were summarized: multiple dermal capillary malformation (5 cases), limb swelling or head circumference enlargement (5 cases), arteriovenous malformation (5 cases), congestive heart failure (4 cases) and positive family history (5 cases). Conclusions: CM-AVM is a rare disease and could present early in neonatal period. Capillary malformation and congestive heart failure of unknown origin in infants may indicate the existence of CM-AVM, and timely imaging and genetic test will help early diagnosis and treatment, and improve prognosis.


Assuntos
Malformações Arteriovenosas , Capilares/anormalidades , Insuficiência Cardíaca , Mancha Vinho do Porto , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/genética , Criança , China , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Mancha Vinho do Porto/complicações , Mancha Vinho do Porto/genética , Estudos Retrospectivos , Proteína p120 Ativadora de GTPase/genética
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