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1.
J Surg Oncol ; 2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-39038195

RESUMO

Uterine leiomyoma is a benign tumor of myometrial tissue which usually affects women of reproductive age. Its prevalence increases with age and has a peak incidence at the age of 40. Metastasizing leiomyomas are dense connective tissue and smooth myometrial muscle cells tumors located outside the uterus. We present the case report of a 55-year-old female referred to investigate pulmonary nodules with the diagnosis of metastasizing leiomyoma.

2.
Respir Med Case Rep ; 50: 102053, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38881776

RESUMO

We report a case of a 42-year-old woman diagnosed with pulmonary benign metastasizing leiomyomatosis with a random nodular pattern on image and with a rare clinical condition progressing with respiratory failure and severe hypoxemia. This study is relevant due to the rarity of the tomographic pattern and the patient's clinical presentation. There is no treatment guideline for this comorbidity, which further increases the importance of publishing case reports in the literature.

3.
Femina ; 51(12): 692-696, 20231230. ilus
Artigo em Português | LILACS | ID: biblio-1532473

RESUMO

A síndrome de Reed ocorre em mulheres com múltiplos leiomiomas cutâneos e leiomiomatose uterina. Relatam-se três casos de pacientes do sexo feminino, acompanhadas em hospital universitário, com pápulas e nódulos eritêmato-acas- tanhados dolorosos em membros superiores e tórax, agravados por frio, pressão e estresse, e associados a miomatose uterina. Foram realizados diversos tratamentos prévios, sem sucesso, tais como: aplicação de corticoterapia e toxina botulínica intralesional, bloqueadores de canais de cálcio, neuromoduladores e analgésicos orais. Foi, então, realizado tratamento cirúrgico, com melhora dos sintomas. O co- nhecimento e o esclarecimento dessa síndrome é fundamental para estabelecer a relação com miomatose uterina e câncer de células renais, para que, então, a partir da lesão de pele, se faça o rastreio das demais neoplasias, diagnóstico precoce e a educação em saúde.


Reed syndrome occurs in women with multiple cutaneous leiomyomas and uterine leiomyomatosis. We report the case of three female patients followed at a university hospital with painful erythematous-brown papules and nodules on the upper limbs and chest, aggravated by cold, pressure, stress, and associated with uterine myoma- tosis. Several previous unsuccessful treatments were performed, such as the applica- tion of corticotherapy and intralesional botulinum toxin, calcium channel blockers, neuromodulators, and analgesics. Surgical treatment was performed with the im- provement of symptoms. Knowledge and clarification of this syndrome are essential to establish a relationship between uterine myomatosis and renal cell neoplasm, so that, after the skin lesion, screening for other neoplasms, early diagnosis, and health education can be carried out.


Assuntos
Humanos , Feminino , Anormalidades da Pele , Neoplasias Cutâneas/diagnóstico , Neoplasias Uterinas , Leiomiomatose/prevenção & controle , Tórax/fisiopatologia , Saúde da Mulher , Leiomiomatose/cirurgia , Extremidades/fisiopatologia , Neoplasias Renais/diagnóstico , Mutação/genética
4.
J Cardiothorac Surg ; 18(1): 256, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37658366

RESUMO

BACKGROUND: Intravascular leiomyomatosis (IVL) is a histologically benign smooth muscle tumor arising from the uterus that can spread through the pelvic veins and, on rare occasions, extend as far as the heart via the inferior vena cava. Despite its benign characteristics, it can behave like a malignant tumor leading to significant morbidity and even mortality if left untreated. CASE PRESENTATION: The patient is a 42-year-old woman with a past medical history of uterine leiomyomas. She presented with heavy bleeding and frequent spotting; therefore, she went to her gynecologist. After further evaluation, a mass within the uterus that expanded into the pelvic veins, inferior vena cava, and right atrium was discovered. After the complete removal of the mass, the patient underwent full recovery. IVL with cardiac extension was the final diagnosis. CONCLUSION: Although IVL is rare, it must be considered in women who underwent previous hysterectomies or myomectomies and present with symptoms of right heart failure. The ideal therapy will need the aid of a multidisciplinary team and will depend on the patient's symptoms, previous operative history, the tumor's extension, and resectability.


Assuntos
Insuficiência Cardíaca , Leiomiomatose , Feminino , Humanos , Adulto , Leiomiomatose/diagnóstico por imagem , Leiomiomatose/cirurgia , Átrios do Coração/cirurgia , Veia Cava Inferior/cirurgia , Ginecologista
5.
Fam Cancer ; 22(4): 481-486, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37316640

RESUMO

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare, autosomal dominant tumor predisposition syndrome characterized by variable development of multiple skin and uterus leiomyomas and aggressive forms of renal cell carcinoma (RCC). Mutations in fumarate hydratase (FH), one of the proteins in homologous recombination repair, precede the development of HLRCC with high penetrance. Considering the risk of early metastasis of RCC, FH has been included in mutation screening panels. The identification of a pathogenic FH variant guides the screening for tumors in the carriers. However, variants of uncertain significance (VUS) are frequent findings, limiting the clinical value of the mutation screening. Here, we describe the associated phenotype and an in-depth, multi-step Bioinformatic evaluation of the germline FH c.199T > G (p.Tyr67 > Asp) variant segregated in an HLRCC family. Evidence for FH c.199T > G; (p.Tyr67Asp) pathogenicity includes the variant segregation with the disease in three affected family members, its absence in populational databases, and the deep evolutionary conservation of the Tyr67 residue. At the protein level, this residue substitution causes the loss of molecular bonds and ionic interactions, affecting molecular dynamics and protein stability. Considering ACMG/AMP criteria, we propose the reclassification of the FH c.199T > G; (p.Tyr67Asp) variant to "likely pathogenic". In addition, the in-depth, in silico approach used here allowed us to understand how and why FH c.199T > G; (p.Tyr67Asp) could cause HLRCC. This could help in clinical management decisions concerning the monitoring of unaffected family members having this variant.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Leiomiomatose , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Neoplasias Uterinas , Feminino , Humanos , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Fumarato Hidratase/genética , Neoplasias Renais/genética , Leiomiomatose/genética , Leiomiomatose/patologia , Síndromes Neoplásicas Hereditárias/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/patologia
6.
Gynecol Oncol Rep ; 45: 101127, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36636580

RESUMO

Background: Fibroid is the most prevalent benign tumor of the female genital tract. Intravenous and intracardiac leiomyomatosis (IVL and ICLM, respectively) are rare complications that present with symptoms of pulmonary thromboembolism and heart failure and whose etiology, despite controversial, is a direct vascular invasion by a primary uterine leiomyoma. Case presentation: We present the case of a 31-year-old female patient with a previous history of pelvic pain and dysmenorrhea, whose ultrasound showed an enlarged and heterogeneous uterus. Complete hysterectomy was performed, and the anatomopathological examination showed leiomyomas without evidence of malignancy. One month later, the patient manifested dyspnea and chest pain. A neoplastic thrombus was identified, extending from the inferior vena cava to the right atrium, for which we proceeded with cavo-atrial thrombectomy under Normothermic Cardiopulmonary Bypass (CPB) with Warm Blood Cardioplegia (WBC). A metastatic lung injury of non-malignant histology was also detected. Discussion: Uterine leiomyoma is a very common benign tumor of the female genital tract. IVL with ICLM are rare and difficult-to-treat complications, whose etiology is a direct vascular invasion by a primary uterine leiomyoma, although it is still controversial. The incidence of ICLM is 10 to 30% of IVL cases. The main symptoms of ICLM are dyspnea, syncope, edema of the lower extremities and palpitations. Treatment is based on complete surgical removal of the tumor thrombus. Studies demonstrated that the one-stage procedure is safer from the patient's perspective and that CPB with WBC reduced intraoperative blood loss and total operative time, ensuring a less traumatic postoperative. Conclusions: Most patients with uterine leiomyoma are asymptomatic and acute complications are rare. In ICLM clinical manifestations are related to heart failure and flow obstruction. Because of the severity of the condition and the curative potential of treatment, surgery is morbid but highly recommended. The use of CPB with WBC improved the postoperative period and increased the patient's quality of life.

7.
Rev. peru. ginecol. obstet. (En línea) ; 68(1): 00010, ene.-mar. 2022.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1409990

RESUMO

RESUMEN La vitamina D está actualmente en el ámbito de la investigación en muchos campos de la medicina. Es conocido que tiene funciones fundamentales en el metabolismo del calcio y modelado óseo. La deficiencia de vitamina definida como la concentración de 25-hidroxicalciferol < 20 ng/mL es observada con frecuencia en pacientes con patologías ginecológicas. En las últimas dos décadas existe evidencia sobre la asociación de concentraciones séricas bajas de vitamina D con trastornos como diabetes mellitus y síndrome metabólico. Cada vez hay más informes que plantean el impacto del metabolismo de esta vitamina en el desarrollo de trastornos del sistema reproductor femenino. El receptor de vitamina D y la 1α-hidroxilasa están presentes en los órganos reproductivos, lo que sugiere que la vitamina D puede tener algún efecto en la modulación de las funciones celulares. Se ha comunicado los efectos perjudiciales de la deficiencia en pacientes con diagnóstico de síndrome de ovarios poliquísticos, endometriosis y leiomiomatosis. La suplementación de vitamina D debería agregarse a los esquemas de tratamiento de la mayoría de las patologías ginecológicas en pacientes con deficiencia, tanto por la mejora de la insulinorresistencia (como en las pacientes con síndrome de ovarios poliquísticos) como por los resultados del tratamiento de la infertilidad. El objetivo de esta revisión fue establecer los efectos de la deficiencia de vitamina D en patologías de la mujer en edad reproductiva.


ABSTRACT Vitamin D is currently under investigation in many fields of medicine. It is known to have fundamental functions in calcium metabolism and bone modeling. Vitamin D deficiency defined as 25-hydroxychalciferol concentration < 20 ng/mL and is frequently observed in patients with gynecological pathologies. In the last two decades there is evidence on the association of low serum vitamin D concentrations with disorders such as diabetes mellitus and metabolic syndrome. There are increasing reports of the impact of vitamin D metabolism on the development of disorders of the female reproductive system. Vitamin D receptor and 1α-hydroxylase are present in the reproductive organs, suggesting that vitamin D may have some effect in modulating cellular functions. The detrimental effects of deficiency have been shown in patients diagnosed with polycystic ovarian syndrome, endometriosis, and leiomyomatosis. Vitamin D supplementation should be added to the treatment schemes of most gynecologic pathologies in patients with deficiency, both for the improvement of insulin resistance (as in patients with polycystic ovarian syndrome) and for the outcomes of infertility treatment. The aim of this review was to establish effects of vitamin D deficiency on pathologies in women of reproductive age.

8.
Rev. peru. ginecol. obstet. (En línea) ; 67(1): 00014, ene.-mar 2021. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1280538

RESUMO

RESUMEN La inversión uterina no puerperal es muy rara. Se comunica un caso asociado con leiomiomatosis. Se trató de una multípara de 45 años que manifestó sangrado vaginal grave, dolor pélvico y sensación de cuerpo extraño vaginal. Se diagnosticó mioma uterino en fase abortiva. Se programó para miomectomía con probable histerectomía abdominal y se encontró inversión uterina completa. Este reporte constituye un caso anecdótico de inversión uterina no puerperal, cuyo tratamiento quirúrgico fue exitoso.


ABSTRACT Non-puerperal uterine inversion is very rare. A case associated with leiomyomatosis is reported. The case of a 45-year-old multiparous woman with severe vaginal bleeding, pelvic pain and vaginal foreign body sensation is presented. Uterine leiomyoma in abortive phase was diagnosed. She was scheduled for myomectomy with probable abdominal hysterectomy and complete uterine inversion was found. This report is an anecdotal case of non-puerperal uterine inversion, whose surgical treatment was successful.

9.
Cir Cir ; 88(Suppl 2): 94-98, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33284259

RESUMO

El 10-15 % de los tumores renales son tipo papilar, su asociación a síndromes hereditarios es poco frecuente y son muy agresivos. Se presenta el caso de un paciente con piloleiomiomatosis con tumor dependiente del riñón derecho y la glándula suprarrenal izquierda, y nefrectomía radical derecha con carcinoma renal papilar tipo 2. Recurrencia retroperitoneal, hepática y lesión testicular bilateral. Orquiectomía radical izquierda con tumor de células de Leydig, metastasectomía hepática y retroperitoneal con carcinoma papilar tipo 2, último estudio de seguimiento sin datos de actividad tumoral. el seguimiento oncológico con estudios no invasivos y los avances terapéuticos pueden mejorar las tasas de supervivencia.10-15% of cases of renal tumors correspond to papillary type, the association to hereditary syndromes is rare, and aggressive. Clinical case: male with a history of piloleiomyomatosis and right kidney and left adrenal tumor, right radical nephrectomy with papillary renal carcinoma type 2. Development retroperitoneal, hepatic and bilateral testicular tumor. Left radical orchiectomy with Leydig cell tumor, hepatic and retroperitoneal metastasectomy with papillary carcinoma metastasis type 2, latest follow-up study without tumor activity. Oncological follow-up with non-invasive studies and therapeutic advances could improve survival rates.


Assuntos
Neoplasias Testiculares , Seguimentos , Humanos , Rim , Masculino , Estudos Retrospectivos , Taxa de Sobrevida , Neoplasias Testiculares/cirurgia
10.
Rev. Bras. Med. Fam. Comunidade (Online) ; 15(42): 2645, 20200210. ilus
Artigo em Português | LILACS | ID: biblio-1282622

RESUMO

Introdução: Quando um utente recorre a uma consulta médica, este já tem uma ideia pré-definida do seu problema de saúde. Esta advém da sua experiência anterior, da cultura local e da sua estrutura de apoio. Apresentação do Caso: Mulher de 48 anos, ex-fumadora. Antecedentes pessoais de excisão de leiomioma uterino há 18 anos. Recorreu à médica de família por tosse há quatro meses. Fez uma tomografia computadorizada tórax, onde se individualizavam formações nodulares dispersas, sugestivas de metastização. Referenciou-se de urgência para consulta de pneumologia, onde lhe foi pedida biópsia, a qual a doente recusou. Após breve avaliação familiar, a própria utente compreendeu que o seu medo era gerado pela sua experiência prévia de vida. A utente acabou por realizar biópsia que revelou padrão de leiomioma. Admitiu-se leiomiomatose benigna metastizante secundária à excisão de miomas uterinos. Conclusão: A "dolência" compreendida pelos utentes vai influenciar o modo como vão gerir a sua doença e a sua dolência. Na consulta existe a gestão entre os medos do doente e as incertezas diagnósticas por parte do médico. Nestes casos, o médico de família não deve assumir uma posição paternalista de decisão, mas sim capacitar os utentes para uma escolha consciente e informada.


Introduction: When a patient has a medical appointment, they already have a pre-defined idea of their health problem. This idea is influenced by their previous experience, local culture and family support. Case Description: 48-year-old female, former smoker. She reveals a personal history of uterine leiomyoma excision 18 years ago. She turns to her doctor complaining of cough for the last four months. A chest computed tomography was ordered, in which nodular formations were identified, suggestive of metastasis. An urgent referral was made to a pulmonology consultation, where a biopsy was requested, which the patient refused to perform. After a family assessment, the patient realized that her previous life experience generated her fear. The patient ended up performing the biopsy that revealed a leiomyoma pattern. The diagnosis of benign metastatic leiomyomatosis secondary to uterine fibroid excision was made. Conclusion: The "illness" understood by patients will influence how they will manage their disease and their malaise. In the consultation there is a confrontation between the patient's fears and the diagnostic uncertainties of the physician. In such cases, the family doctor should not assume a paternalistic position of decision, but should empower patients to make a conscious and informed choice


Introducción: Cuando un paciente tiene una cita médica, ya tiene una idea predefinida de su problema de salud. Esta idea está influenciada por su experiencia previa, cultura local y apoyo familiar. Presentación del caso: Mujer de 48 años, exfumadora. Ella revela una historia personal de escisión de leiomioma uterino hace 18 años. Ella recurre a su médico quejándose de tos durante los últimos cuatro meses. Se ordenó una Tomografía computarizada de tórax, en la que se identificaron formaciones nodulares, sugestivas de metástasis. Se hizo una referencia urgente a una consulta de neumología, donde se solicitó una biopsia, que el paciente se negó a realizar. Después de una evaluación familiar, la paciente se dio cuenta de que su experiencia de vida anterior generaba miedo. Se realizó el diagnóstico de leiomiomatosis benigna metastatizante secundaria a escisión de fibromas uterinos. Conclusión: La "enfermedad" entendida por los pacientes influirá en cómo manejarán su enfermedad y su malestar. En la consulta existe una confrontación entre los temores del paciente y las incertidumbres diagnósticas del médico. En tales casos, el médico de familia no debe asumir una posición paternalista de decisión, sino que debe capacitar a los pacientes para que tomen una decisión consciente e informada.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Atenção Primária à Saúde , Leiomiomatose , Nódulos Pulmonares Múltiplos
11.
Rev. cuba. obstet. ginecol ; 45(2): e453, abr.-jun. 2019. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1093642

RESUMO

La leiomiomatosis peritoneal diseminada es una entidad rara de etiología incierta, caracterizada por la proliferación de múltiples nódulos benignos en la cavidad peritoneal, formados por células musculares lisas, que pueden simular una carcinomatosis peritoneal. Es más frecuente en mujeres en edad fértil, durante el embarazo o por el uso de anticonceptivos orales. Se presenta el caso de una mujer de 40 años diagnosticada de leiomiomatosis peritoneal diseminada, sometida a una histerectomía simple por miomatosis uterina. Después de dos años del diagnóstico presenta una exacerbación de la enfermedad y se sospecha de malignización, por lo que se realiza una laparotomía exploratoria donde se observan múltiples nódulos miomatosos extendidos por epiplón, peritoneo y apéndice. Se le practica la exéresis de todos los nódulos (omentectomía, apendicectomía y anexectomía bilateral(. La biopsia confirma el diagnóstico de leiomiomatosis peritoneal diseminada. Actualmente, la paciente permanece asintomática tras 6 años de seguimiento(AU)


Disseminated peritoneal leiomyomatosis is a rare entity of uncertain etiology, characterized by the proliferation of multiple benign nodules in the peritoneal cavity. These nodules are formed by smooth muscle cells, which can simulate peritoneal carcinomatosis. It manifests predominantly in women of childbearing age, especially during pregnancy or with the use of oral contraceptives. We report here the case of a 40-year-old woman diagnosed with disseminated peritoneal leiomyomatosis, who underwent simple hysterectomy due to uterine myomatosis. Two years after the diagnosis, she presented with an exacerbation of the disease and malignancy was suspected. So exploratory laparotomy was performed. Multiple myomatous nodules were observed, extended by omentum, peritoneum and appendix. All nodules were removed -omentectomy, appendectomy and bilateral adnexectomy. Biopsy confirms the diagnosis of disseminated peritoneal leiomyomatosis. As of today, the patient remains asymptomatic after 6 years of follow-up(AU)


Assuntos
Humanos , Feminino , Adulto , Leiomiomatose/diagnóstico , Leiomiomatose/patologia , Histerectomia/métodos
12.
Rev. méd. Chile ; 145(2): 255-259, feb. 2017. ilus
Artigo em Espanhol | LILACS | ID: biblio-845531

RESUMO

Benign intraperitoneal metastatic leiomyomatosis is a rare benign disease that is observed when a leiomyoma is present in the peritoneal surface. Women who have undergone hysterectomy for leiomyomas are most commonly affected. Patients are usually asymptomatic at presentation, being frequently an incidental finding in imaging studies. Ultrasound and CT play an important role in the diagnosis. The lesions are histologically identical to their uterine counterparts. There are different theories about the pathogenesis of the disease, including peritoneal seeding after laparoscopic hysterectomy. Others support the hypothesis of multiple independent foci of smooth muscle proliferation. Treatment, as in uterine leiomyomatosis, is generally conservative. We report a 53-year-old hysterectomized woman with intraperitoneal leiomyomas detected in a routine physical examination as mobile abdominal masses who underwent successful laparoscopic resection.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Peritoneais/secundário , Neoplasias Uterinas/patologia , Leiomiomatose/patologia , Leiomioma/patologia , Neoplasias Peritoneais/cirurgia , Neoplasias Peritoneais/diagnóstico por imagem , Leiomiomatose/cirurgia , Leiomiomatose/diagnóstico por imagem , Histerectomia
14.
An. bras. dermatol ; An. bras. dermatol;92(5,supl.1): 88-91, 2017. graf
Artigo em Inglês | LILACS | ID: biblio-887102

RESUMO

Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.


Assuntos
Humanos , Feminino , Adulto Jovem , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/patologia , Síndromes Neoplásicas Hereditárias/patologia , Leiomiomatose/patologia , Pele/patologia , Neoplasias Cutâneas/genética , Neoplasias Uterinas/genética , Biópsia , Síndromes Neoplásicas Hereditárias/genética , Imuno-Histoquímica , Tumor de Músculo Liso/patologia , Leiomiomatose/genética , Idade de Início , Fumarato Hidratase/genética
15.
Rev. bras. ginecol. obstet ; Rev. bras. ginecol. obstet;38(8): 412-415, Aug. 2016. graf
Artigo em Inglês | LILACS | ID: lil-796932

RESUMO

Abstract Introduction Intravenous leiomyomatosis is a benign and rare condition that can result in cardiac events with fatal outcomes when left untreated. Intravenous leiomyomatosis is probably underestimated because the diagnosis is easily missed. We present a case of an intravenous leiomyomatosis without extra-pelvic involvement, with a brief review of this pathology. Case Report 46-year-old woman submitted to hysterectomy and bilateral adnexectomy because of a pelvic mass detected in ultrasound. During the surgery, intravenous leiomyomatosis diagnosis was suspected. Pathological analysis confirmed this suspicion. Further imaging exams were performed without detecting any anomalies related to this condition. The patient remained with no evidence of disease after one year of follow-up. Conclusion Intravenous leiomyomatosis is a rare condition that can lead to serious complications. Early diagnosis followed by an appropriate treatment is very important to patient outcome, and underdiagnoses can be counteracted if the gynecologist is aware of this entity.


Resumo Introdução A leiomiomatose intravenosa é uma condição benigna, rara, que pode resultar em eventos cardíacos, podendo ser fatal quando não tratada. Esta patologia está provavelmente subestimada, uma vez que facilmente não é diagnosticada. Neste artigo, apresentamos um caso de leiomiomatose intravenosa sem envolvimento extrapélvico, com uma breve revisão da patologia. Relato de Caso Mulher de 46 anos de idade, submetida a histerectomia e anexectomia bilateral após detecção ecográfica de massa pélvica. Durante a cirurgia, houve a suspeita de leiomiomatose intravenosa, e o exame anátomo-patológico confirmou o diagnóstico. A paciente foi submetida a outros exames de imagem, não sendo detectada qualquer anomalia relacionada com a patologia. Após um ano de followup, a paciente manteve-se sem evidência de doença. Conclusão A leiomiomatose intravenosa é uma condição rara que pode levar a complicações graves. O diagnóstico precoce e o tratamento adequado são muito importantes para o prognóstico da paciente, e os subdiagnósticos podem ser evitados se o ginecologista estiver ciente dessa entidade.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Leiomiomatose , Ovário/irrigação sanguínea , Útero/irrigação sanguínea , Neoplasias Vasculares , Leiomiomatose/patologia , Leiomiomatose/cirurgia , Neoplasias Vasculares/patologia , Neoplasias Vasculares/cirurgia
16.
Invest. clín ; Invest. clín;57(1): 59-65, mar. 2016. ilus
Artigo em Espanhol | LILACS | ID: biblio-841099

RESUMO

Se presenta un varón de 56 años con un leiomioma atípico en el contexto de una leiomiomatosis cutánea, con antecedentes familiares de miomatosis uterina y con estudio genético que revela una mutación en el gen de la enzima fumarato hidratasa, sin que hasta el momento presente ningún tipo de neoplasia maligna renal. El leiomioma atípico es un tumor poco frecuente, que usualmente ocurre de forma aislada, siendo excepcional la presentación en pacientes con leiomiomatosis cutánea. Es ampliamente conocida la relación de la mutación de la enzima fumarato hidratasa con leiomiomas mútiples, miomas uterinos y el mayor riesgo de desarrollar cáncer renal; sin embargo, el papel de esta mutación en el desarrollo de leiomiomas atípicos es por hoy imposible de esclarecer debido a los escasos casos recogidos en la literatura.


We report the case of a 56 year-old male with an atypical leiomyoma in the context of a cutaneous leiomyomatosis and a family history of uterine leiomyomatosis. The genetic study revealed a mutation in the gene for the enzyme fumarate hydratase, but he has not had any renal malignancy so far. Atypical leiomyoma is a rare tumor that usually presents as a single lesion and is exceptional in patients with cutaneous leiomyomatosis. The relation between fumarate hydratase enzyme mutations with multiple leiomyomas, uterine leiomyomatosis and an increased risk of developing kidney cancer is widely known. However, the role of these mutations in the development of atypical leiomyomas is still impossible to clarify given the few cases reported in the literature.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/genética , Leiomiomatose/genética , Fumarato Hidratase/genética , Mutação , Neoplasias Cutâneas/enzimologia , Neoplasias Cutâneas/patologia , Leiomiomatose/enzimologia , Leiomiomatose/patologia , Leiomioma/enzimologia , Leiomioma/genética , Leiomioma/patologia
17.
Rev. cienc. med. Pinar Rio ; 19(6): 0-0, nov.-dic. 2015. graf
Artigo em Espanhol | LILACS | ID: lil-781995

RESUMO

El fibroma uterino gigante es una afección benigna de muy escasa incidencia. La intervención quirúrgica representó un reto para el equipo médico debido a su tamaño y las variaciones en la distribución de los órganos intra-abdominales, originadas por el gran crecimiento que experimentan. Se hace un reporte del caso de una paciente de 49 años de edad, que a través de un ultrasonido ginecológico realizado a los 39 años de edad se le diagnóstico fibroma uterino, pero desiste de recibir tratamiento por miedo a operarse, que finalmente logra vencer y se opera el día 11 de junio de 2015 en el Hospital General Docente «Héroes del Baire¼, Nueva Gerona, Isla de la Juventud. Se practica una histerectomía total abdominal con doble anexectomía. El estudio histopatológico informa leiomioma subseroso gigante, con un peso de 6.0 kg. Durante el transoperatorio y el postoperatorio inmediato y mediato no se constatan accidentes ni complicaciones. La evolución postquirúrgica tardía en la atención primaria de salud se mantuvo satisfactoria. Lo poco común del caso motivó su reporte.


Giant uterine fibroma is a benign condition of very low incidence. Surgical intervention represented a challenge for the medical team because of its size and variations in the distribution of intra-abdominal organs caused by their tremendous growth. Case report: a 49-year-old patient, having a gynecological ultrasound performed at 39 years old was diagnosed with uterine fibroma, but she decided not to follow the surgical procedure for fear of surgery, she finally managed the fears and was operated on June11, 2015 at Heroes de Baire General Teaching Hospital in Nueva Gerona, Isla de la Juventud. Total abdominal hysterectomy with double adnexectomy was performed. The histopathological study reported giant subserous-leiomyoma, weighing 6.0 kg. During the immediate intraoperative and postoperative procedures no accidents or complications were detected. Late postoperative evolution in primary health care remained satisfactory. The peculiarities of this case motivated its report.

18.
Rev. colomb. obstet. ginecol ; 65(2): 179-182, abr.-jun. 2014. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-722828

RESUMO

Objetivo: mostrar un caso de leiomiomatosis parásita que se presentó después de miomectomía laparoscópica y revisar la literatura disponible respecto a la histopatología, la fisiopatología, el diagnóstico y el tratamiento de la entidad.Materiales y métodos: se presenta el caso de una paciente de 30 años con antecedente de miomectomía por laparoscopia, que consultó a la clínica las Americas (Medellín, Colombia), centro privado de atención, por sangrado uterino de un mes de evolución. Por ultrasonido pélvico se documentó la presencia de leiomiomas uterinos. Fue sometida a nueva laparoscopia que reveló cuatro miomas parásitos en la cavidad pélvica. Se realizó una búsqueda en las bases de datos Medline vía PubMed y SciELO con los términos MeSH: “leiomyomatosis parasitic”, “myomectomy”, “laparoscopic” y “myoma”, y los términos DeCS: “mioma”, “leiomiomatosis parásito” “miomectomía” y “laparoscopia”.Resultados: se seleccionaron 12 artículos de los cuales 10 son reporte de caso, una serie de casos y una revisión narrativa de la literatura.Conclusión: la leiomiomatosis parásita es un evento que se presenta en la actualidad más frecuentemente después de miomectomía laparoscópica y que puede llegar a requerir manejo quirúrgico.


Objective: To present a case of parasitic leiomyomatosis occurring after laparoscopic myomectomy, and a review of the literature on the histopathology, pathophysiology, diagnosis, and treatment of this condition.Materials and methods: 30 year-old female patient with a history of laparoscopic myomectomy who presented to Clínica las Américas (Medellín, Colombia), a private healthcare centre, complaining of uterine bleeding lasting one month. The presence of leiomyomas was document on ultrasound. The patient was taken again to laparoscopy and four parasitic leiomyomas were found in the pelvic cavity. A search was conducted in the Medline databases through PubMed and SciELO using the MeSH terms “leiomyomatosis, parasitic”, “myomectomy”, “laparoscopic”, “myoma”, and the DeCS terms “myoma”, “parasite leiomyomatosis”, “myomectomy” and “laparoscopy”.Results: Overall, 12 articles were selected, including 10 case reports, 1 case series and 1 narrative review of the literature.Conclusion: Parasitic leiomyomatosis is an event found most frequently at the present time after laparoscopic myomectomy, and may require surgical management.


Assuntos
Adulto , Feminino , Laparoscopia , Leiomiomatose , Mioma
19.
Int. j. morphol ; 32(2): 666-670, jun. 2014. ilus
Artigo em Espanhol | LILACS | ID: lil-714326

RESUMO

La leiomiomatosis peritoneal diseminada (LPD) es una entidad infrecuente que se caracteriza por la presencia de numerosas lesiones constituidas por haces de músculo liso peritoneal o subperitoneal. Estas lesiones expresan receptores hormonales, desarrollándose generalmente en pacientes en edad reproductiva. En nuestra revisión bibliográfica encontramos reportes desde el año 1976 y hasta el año 2011 aproximadamente 140 casos habían sido reportados en la literatura. Se presenta un caso de LPD diagnósticado en paciente de sexo femenino de 40 años de edad. Se describen datos quirúrgicos, examen anatomopatológico macro y microscópico con fotografías digitales, junto con una revisión de diferentes aspectos clínicos de la enfermedad.


The disseminated peritoneal leiomyomatosis is a rare occurrence characterized by the presence of numerous smooth muscle nodules on peritoneal or subperitoneal surfaces. These tumors express hormone receptors and usually develop in patients of reproductive age. In our literature review we found reports from 1976 and until 2011, describing about 140 cases. We report a case diagnosed as disseminated peritoneal leiomyomatosis in a 40-year-old woman. We describe surgical data, macro and microscopic pathological examination and we present photographs and a review of different clinical aspects of the disease.


Assuntos
Humanos , Feminino , Adulto , Neoplasias Peritoneais/patologia , Neoplasias Uterinas/patologia , Leiomioma/patologia
20.
Acta Crystallogr F Struct Biol Commun ; 70(Pt 1): 120-2, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24419633

RESUMO

Human fumarase (HsFH) is a well-known citric acid cycle enzyme and is therefore a key component in energy metabolism. Genetic studies on human patients have shown that polymorphisms in the fumarase gene are responsible for diseases such as hereditary leiomyomatosis and renal cell cancer. As a first step in unravelling the molecular basis of the mechanism of fumarase deficiency in genetic disorders, the HsFH gene was cloned in pET-28a, heterologously expressed in Escherichia coli, purified by nickel-affinity chromatography and crystallized using the vapour-diffusion technique. X-ray diffraction experiments were performed at a synchrotron source and the structure was solved at 2.1 Šresolution by molecular replacement.


Assuntos
Fumarato Hidratase/química , Fumarato Hidratase/isolamento & purificação , Proteínas Recombinantes/química , Proteínas Recombinantes/isolamento & purificação , Difração de Raios X , Sequência de Aminoácidos , Clonagem Molecular , Cristalização , Eletroforese em Gel de Poliacrilamida , Humanos , Dados de Sequência Molecular
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