41-Year-Old Male with Sub-Acute Encephalopathy, Seizures, and End Stage Renal Disease: A Unifying Diagnosis and Response to Therapy.

We describe a case of a 41-year-old male with a history of end-stage renal disease, hypertension, epilepsy, ischemic stroke, and traumatic brain injury transferred to our tertiary care center for subacute, progressive cognitive impairment. He was found to have disproportionate brain atrophy, focal seizures, and refractory hypertension. Given suspicion for an underlying genetic etiology, a genetic panel for progressive renal disease was sent, revealing two known pathogenic variants in a gene for a cobalamin metabolism disorder, Cobalamin C deficiency. He was started on targeted metabolic supplementation with subsequent improvement in his cognition. Our case highlights the crucial need to expand diagnostic workup to include genetic and metabolic causes in patients with neurologic disease, atypical features, relevant family history and multi-organ dysfunction.

Effect of Arthrospira platensis microalgae protein purification on emulsification mechanism and efficiency.

In light of environmental concerns and changing consumer demands, efforts are increasing to replace frequently used animal-based emulsifiers. We demonstrate the interfacial network formation and emulsifying potential of Arthrospira platensis protein extracts and hypothesize a mechanistic change upon progressing purification. A microalgae suspension of A. platensis powder in phosphate buffer solution (pH 7, 0.1 M) was homogenized and insoluble components separated by centrifugation. Proteins were precipitated at the identified isoelectric point at pH 3.5 and diafiltrated. In interfacial shear rheology measurements, the build-up of an interfacial viscoelastic network was faster and final network strength increased with the degree of purification. It is suggested that isolated A. platensis proteins rapidly form an interconnected protein layer while coextracted surfactants impede protein adsorption for crude and soluble extracts. Emulsions with 20 vol % medium chain triglycerides (MCT) oil could be formed with all extracts of different degrees of purification. Normalized by protein concentration, smaller droplets could be stabilized with the isolated fractions. For potential applications in food, pharma and cosmetic product categories, the enhanced functionality has to be balanced against the loss in biomass while purifying microalgae proteins or other alternative single cell proteins.

Uterine secretory activity and histology of prepubertal female dogs in an animal model of partial ablation of endometrial glands development / Atividade secretória uterina e histologia de cadelas pré-púberes em um modelo animal de ablação parcial do desenvolvimento das glândulas uterinas

Inadequate exposure of the female reproductive system to steroids in uterine developmental periods can partially inhibit the development of endometrial glands in dogs. However, the effects of steroids on the formed glands functionality remain unknown, as well as the possible occurrence of endometrial fibrosis. This study aimed to evaluate the secretory activity of endometrial glands in prebubertal female dogs submitted to a protocol of partial ablation of the uterine adenogenesis. Sixteen females of non-specific breed were distributed into two groups; MPA (n=8), females that received applications of medroxyprogesterone acetate every 3 weeks; and C (n=8) untreated control females. Ovariohysterectomy was performed in all animals at the age of 6 months and evaluated the uterine horns by histological and histochemistry exams. The secretion intensity (degrees 1-4) was evaluated using periodic acid-Schiff (PAS) and alcian blue (AB) pH 2.5. Histological evaluation was performed using Masson's trichrome and toluidine blue. Only degree 1 and 2 marks for PAS were observed in both groups, with no difference of uterine secretion intensity between the groups regarding the degrees found. However, the MPA group revealed higher intensity of uterine secretion compared to group C (p<0.05). Staining with AB pH 2.5 also revealed only degree 1 and 2 marks in both groups, with no statistically significance between them. Masson's trichrome staining revealed no marks in the periglandular region in both groups. A higher among of mast cells was observed in the myometrial region of the uterus in both groups. Prepubertal female dogs with partial ablation of the uterine adenogenesis present minimal uterine secretory activity, absence of periglandular fibrosis and increased presence of mast cells in the myometrium compared to endometrium.(AU)

A exposição inadequada do sistema reprodutor feminino a esteróides em períodos do desenvolvimento uterino pode inibir parcialmente o desenvolvimento das glândulas endometriais em cães. Entretanto, não se conhece os efeitos dos esteróides sobre a funcionalidade das glândulas formadas, bem como a possível ocorrência de fibrose endometrial. Objetivou-se avaliar a atividade secretória das glândulas endometriais de cadelas pré-púberes submetidas a protocolo de ablação parcial da adenogênese uterina. Foram utilizadas 16 fêmeas, sem-raça-definida, distribuídas nos grupos MPA (n=8), fêmeas que receberam aplicações de acetato de medroxiprogesterona a cada 3 semanas, e C (n=8), fêmeas controle não tratadas. Aos seis meses de idade, foi realizada ovariohisterectomia em todos os animais, e avaliados os cornos uterinos pelo exame histológico e de histoquímica. Para avaliar a intensidade de secreção (graus 1-4), foram utilizadas periodic acid-Schiff e alcian blue (AB) pH 2,5. Para a avaliação histológica foram utilizados tricrômico de Masson e azul de toluidina. Apenas marcações graus 1 e 2 foram observadas para PAS em ambos os grupos, sem diferença na intensidade de secreção uterina entre grupos com relação aos graus encontrados. Entretanto, o grupo MPA apresentou maior intensidade de secreção uterina em relação ao grupo C (p<0,05). Com relação ao AB pH 2,5, em ambos os grupos também foram encontradas apenas marcações de graus 1 e 2, sem diferença estatística entre grupos. Não foram observadas marcações para a coloração de tricrômico de Masson na região periglandular, em ambos os grupos. Foi observada maior quantidade de mastócitos presentes no útero na região do miométrio, em ambos os grupos. Conclui-se que cadelas pré-púberes com ablação parcial da adenogênese uterina apresentam mínima atividade secretória uterina, ausência de fibrose periglandular e maior presença de mastócitos no miométrio em relação ao endométrio.(AU)

Histochemistry, immunohistochemistry and cytochemistry of the anterior midgut region of the stingless bee Melipona quadrifasciata and honey bee Apis mellifera (Hymenoptera: Apidae).

The anterior midgut region of stingless bees is anatomically differentiated with tall and narrow cells, whereas in other social and solitary bees this anatomical gut region is lacking. The objective of the present study was to describe the histochemistry, immunohistochemistry and cytochemistry of the anterior midgut region of the stingless bee Melipona quadrifasciata in comparison with the honey bee Apis mellifera. The anterior midgut region of both species was evaluated for identification of the enzymes ß- galactosidase, glucose-6-phosphatase, acid phosphatase, and alkaline phosphatase, the membrane transporter aquaporin, the hormone FMRF-amide, and lysosomes. Histology of the anterior midgut region showed that this region in M. quadrifasciata workers did not present external folds of the wall, whereas the following midgut wall presented many. In A. mellifera, folds in the midgut wall occur starting from the fore- midgut transition region. Despite these morphological differences, the tests evaluated were similar in both species. ß-galactosidase was not found in the anterior midgut cells. Glucose-6-phosphatase and acid phosphatase occurred in the apical region of the gut epithelium. Alkaline phosphatase occurred in vesicles in apical cytoplasm and in the basal plasma membrane infoldings of the epithelial cells. Aquaporin was found in the basal region of the midgut epithelium and in the associated visceral muscles. FMRF-amide was found only in nerve endings in the anterior midgut region. All cells in the anterior midgut region were rich in lysosomes. These results suggest that in both bee species, although they have anatomically different anterior midgut regions, these regions present high metabolic activity and function in cellular homeostasis, lipid absorption and are under neurohormone control.

Ultrastructure and morphometric features of epididymal epithelium in Desmodus rotundus.

The blood-feeding behavior of Desmodus rotundus made this bat a potential vector of rabies virus and a public health issue. Consequently, the better understanding of its reproductive biology becomes valuable for the development of methods to control its population. In this study, we described morphological aspects of epithelial cells in D. rotundus' epididymis using light and transmission electron microscopy methods. The duct compartment was the main component of initial segment (83%), caput (90%), corpus (88%) and cauda (80%) regions. The epithelium lining the duct presented a progressive decrease in its height from initial segment to cauda regions. Moreover, the morphology of each cell type was the same along the entire duct. Similarly to rodents, columnar-shaped principal cells were the most abundant cell type throughout the epididymis, followed by basal and clear cells. Differently in rat and mice, the frequency of clear cells did not increase in the epididymis cauda, whereas the proportion of principal and basal cells was greater in this region. Furthermore, D. rotundus presented goblet-shaped clear cells with the nucleus located in the apical portion of the epididymal epithelium. This cellular portion also presented electron-lucid vesicles of different sizes that may correspond to vesicles enriched with proteins related to proton secretion. In addition to the findings regarding clear cells' structural organization, basal cells presented scarce cytoplasm and no axiopodia. Taken these findings together, we suggest that the mechanism of luminal acidification may have other pathways in D. rotundus than those described in rodents.

A specific anti-citrullinated protein antibody profile identifies a group of rheumatoid arthritis patients with a toll-like receptor 4-mediated disease.

BACKGROUND: Increased expression of toll-like receptor 4 (TLR4) and its endogenous ligands, is characteristic of rheumatoid arthritis (RA) synovitis. In this study, we evaluated how these TLR4 ligands may drive pathogenic processes and whether the fine profiling of anti-citrullinated protein antibodies (ACPA) based on their target specificity might provide a simple means to predict therapeutic benefit when neutralizing TLR4 in this disease. METHODS: The capacity of RA synovial fluids (RASF) to stimulate cytokine production in monocytes from patients with RA was analyzed by ELISA. The presence of TLR4 activators in RASF was determined by measuring the levels of ACPA, ACPA subtypes with reactivity to specific citrullinated peptides and other TLR4 ligands. Neutralization of TLR4 signaling was investigated using NI-0101, a therapeutic antibody that targets TLR4. RESULTS: RASF exhibited a heterogeneous capacity to induce production of proinflammatory cytokines by monocytes isolated from patients with RA. Such cytokine responses were significantly modified by TLR4 blockade achieved using NI-0101. The analysis of the content of RASF and matched sera demonstrated that ACPA fine specificities in patient samples predict cellular response to anti-TLR4 exposure in vitro. CONCLUSION: TLR4 represents a possible therapeutic target in RA. Our study demonstrates that TLR4 inhibition in an ex vivo model of RA pathogenesis can significantly modulate cytokine release and does so in specific subgroups of RA patient-derived samples. It also suggests that ACPA fine profiling has the potential to identify RA patients with a predominantly TLR4-driven pathotype that could be used to predict preferential response to TLR4 antagonism.

Imaging features and differentials in surfer's myelopathy: a case report.

Surfer's myelopathy is a rare non-traumatic cause of myelopathy found in novice surfers. We present a case of a 23-year-old female who developed acute and rapidly progressive bilateral lower extremity paraplegia, paresthesia, and anesthesia, accompanied by lower back discomfort and bowel and bladder dysfunction after surfing for the first time. She had a past history of auto-resolved lower extremity weakness that could be related to anatomy variation of spinal cord vascular supply. This individual variation could have increased the risk for ischemic myelopathy after prolonged prone position with back hyperextension on the surf board. We discuss radiological findings of acute spinal cord infarct and longitudinal extensive transverse myelitis (LETM) as possible differentials in this case. The diagnosis of surfer's myelopathy relies on a first time surfing history since the clinical and radiological presentations can be similar to other entities in some cases. Thus, we highlight the importance of a full clinical report and efficient communication between referring clinicians and radiologists for a precise and early diagnosis.

Tratamiento de la sonrisa gingival con la toxina botulínica tipo A: caso clínico / Treatment of gingival smile with botulinum toxin type A: a case report

La toxina botulínica ha sido señalada recientemente en la literatura como una opción de tratamiento para la corrección de la sonrisa gingival. Este reporte de caso relata la experiencia de los autores en un caso de sonrisa gingival asociada a 4 mm de exposición gingival e hipermovilidad de la musculatura elevadora del labio superior, tratado con el uso de toxina botulínica. Controles periódicos y evaluaciones de la exposición gingival fueron realizados mensualmente tras la aplicación. El tratamiento con toxina botulínica de tipo A puede ser considerado como una posible alternativa de tratamiento en este tipo de casos (AU)

Botulinum toxin has recently been reported in the literature as a treatment option for the correction of the gummy smile. This case report describes the experience of the authors in a case of gingival smile associated with 4 mm of gingival exposure and hyper mobility of the elevator muscle of the upper lip treated with the use of botulinum toxin. Regular checks and assessments of the gingival exposure were performed monthly after the application. Treatment with botulinum toxin type A can be considered as a possible alternative of treatment in this type of cases (AU)

O desafio diagnóstico da doença de Kawasaki incompleta / The diagnosis challenge of the incomplete Kawasaki disease

Objetivo: a doença de Kawasaki é uma vasculite sistêmica aguda autolimitada que acomete vasos de médio e pequeno calibres, preferencialmente as artérias coronárias. Os pacientes que não apresentam todos os critérios necessários para o diagnóstico são classificados como portadores da forma incompleta. Este trabalho descreve criança com a forma incompleta da doença de Kawasaki, ressaltando os aspectos clínicos e laboratoriais que possam ser de auxílio no diagnóstico da doença. Descrição do caso: paciente masculino, seis anos de idade, com febre, mialgia e sinais meníngeos admitido no hospital com diagnóstico de meningite. Apresentava hiperemia conjuntival bilateral ehemorragia conjuntival. A punção lombar evidenciou pleocitose e elevação da proteinorraquia. Iniciado tratamento para meningoencefalite, com desaparecimento da febre e dos sinais meníngeos. No terceiro dia de internação manifestou insuficiência cardíaca e quatro dias após a febre ressurgiu, persistindo por sete dias. A pesquisa de foco infecciosoera negativa. Após a defervescência da febre, o ecocardiograma revelou coronárias dilatadas. Diagnosticada a síndrome de Kawasaki incompleta. No mesmo dia, foi observada descamação laminar nas pontas dos dedos das mãos. Discussão: a síndrome de Kawasaki incompleta deve ser considerada em toda criança com febre prolongada por mais de cinco dias sem foco aparente, associado a algumas das principais manifestações típicas. O diagnóstico tardio representa alto risco de coronariopatias.

Objectives: Kawasaki disease is an acute self-limiting systemic vasculitis that affects medium and small caliber vessels, preferably the coronary arteries. Patients who do not present all the necessary criteria for diagnosis are classified as bearers of the incomplete form. This study describes a child with the incomplete form of Kawasaki disease emphasizing the clinical and laboratory aspects that may be of aid in the disease diagnosis. Case description: male patient, six years old, with fever, myalgia, and meningeal signs admitted to the hospital with a diagnosis of meningitis. He presented bilateral conjunctival hyperemia and conjunctival hemorrhage. The spinal tap showed pleocytosis and elevated proteinorachy. Started treatment for meningoencephalitis, with the disappearance of fever and meningeal signs. On the third day of hospitalization expressed heart failure, and the fever reemerged four days after persisting for seven days. The research of infection was negative. After fever defervescence, the echocardiogram revealed dilated coronary. The incomplete Kawasaki syndrome was diagnosed. On the same day, laminar desquamation was observed at fingertips. Discussion: the incomplete Kawasaki syndrome should be considered in every child with prolonged fever for more than five days without apparent focus, associated with some of the main typical manifestations. The late diagnosis represents higher risk for coronary artery disease.

Toxina Botulínica Tipo A para bruxismo: analise sistemática / Botulinum Toxin A for bruxism: a systematic review

Objetivo: Sistematizar as evidências científicas sobre a eficácia da toxina botulínica tipo A notratamento do bruxismo. Método: A busca bibliográfica foi realizada através de uma pesquisanas bases de dados PubMed Central Journals e Allergan Product Literature - botulinum toxin(APL) compreendendo o período dos últimos 10 anos, com os descritores: ?bruxism?, ?botulinumtoxin?, ?treatament?. A qualidade metodológica dos estudos foi avaliada pela Escala de Jadad.Resultados: Foram selecionados dois estudos do tipo ensaio clínico randomizado duplo-cego. Osdois estudos clínicos mostram que as aplicações de toxina botulínica podem diminuir os níveis dedor, frequência dos eventos de bruxismo e satisfazer os pacientes no que diz respeito à eficáciada toxina botulínica nesta patologia. Além de não provocar efeitos adversos importantes. Assim,o tratamento com toxina botulínica tipo A pode apresenta-se como um tratamento possível parapacientes com bruxismo. Conclusão: Há necessidade de maior numero de estudos que sigamcritérios de qualidade para se chegar a uma conclusão definitiva quanto a eficácia e segurança.

Objective: To systematize the scientific evidence on the efficacy of botulinum toxin type A in thetreatment of bruxism. Method: A bibliographical search was made by researching the PubMedCentral Journals and Allergan Products Literature (APL) - botulinum toxin within the last 10 years,with the following descriptors: ?bruxism,? ?botulinum toxin,? and ?treatment?. The methodologicalquality of the studies was evaluated by the Jadad Scale. Results: Two studies of double blindrandomized clinical trials were selected. The two clinical studies showed that the application ofbotulinum toxin could diminish levels of pain, lower the frequency of occurrences of bruxism,and satisfy the patients in terms of efficacy of the botulinum toxin in this pathology, in additionto having no important adverse effects. Thus, the treatment with botulinum toxin type A couldpresent itself as one possible treatment for patients with bruxism. Conclusion: More studies areneeded that follow the quality criteria to reach a definitive conclusion about efficacy and safety.

Toxina Botulínica Tipo A no tratamento da dor miofascial relacionada aos músculos da mastigação / Botulinum Toxin Type A in the treatment of myofascial pain related to masticatory muscles

Objetivo: Sistematizar as evidências científicas sobre a eficácia da toxina botulínica tipo A no tratamento da dor miofascial relacionada aos músculos mastigatórios. Método: A busca bibliográfica foi realizada através de uma pesquisa nas bases de dados PubMed Central Jornal e Allergan Product Literature - botulinum toxin (APL) compreendendo o período dos últimos 12 anos, com os descritores: "myofascial pain", "botulinum toxin", "treatment", "masticatory muscles". A qualidade metodológica dos estudos foi avaliada pela Escala de Jadad. Foram selecionados quatro estudos do tipo ensaio clínico randomizado duplo-cego. Resultados: Pudemos notar que, as pesquisas sobre a utilização de toxina botulínica tipo A para dor miofascial estão contribuindo para aprimorar os tratamentos existentes até o momento para essa condição clínica. Conclusão: É indispensável um maior número de estudos e formas de avaliação precisas e quantitativas para uma resposta definitiva sobre eficácia e segurança deste tratamento.

Objective: To systematize the scientific evidence on the efficacy of botulinum toxin type A in the treatment of myofascial pain related to masticatory muscles. Method: A bibliographical search was made in the PubMed Central Journal and Allergan Product Literature databases - botulinum toxin (APL) encompassing the past 12 years, with the descriptors: "myofascial pain," "botulinum toxin," "treatment," "masticatory muscles". The methodological quality of the studies was evaluated through the Jadad scale. Four randomized, double-blind, clinical trial studies were selected. Results: It was found that the research on the use of botulinum toxin type A for myofascial pain contributed to improving the treatments that existed until that time for this clinical condition. Conclusion: The need for more studies and forms of evaluating precisely and quantitatively is essential in order to find a definitive answer on the efficacy and safety of this treatment.

Increased sensitivity to radiochemotherapy in IDH1 mutant glioblastoma as demonstrated by serial quantitative MR volumetry.

BACKGROUND: Isocitrate dehydrogenase 1 (IDH1) mutations have been linked to favorable outcomes in patients with glioblastoma multiforme (GBM). Recent in vitro experiments suggest that IDH1 mutation sensitizes tumors to radiation damage. We hypothesized that radiographic treatment response would be significantly different between IDH1 mutant versus wild-type GBMs after radiotherapy (RT) and concurrent temozolomide (TMZ). METHODS: A total of 39 newly diagnosed GBM patients with known IDH1 mutational status (10 IDH1 mutants), who followed standard therapy and had regular post-contrast T1W (T1+C) and T2W/ fluid-attenuated inversion recovery (FLAIR) images in the 6-month period after starting RT, were enrolled. The volume of contrast-enhancing and FLAIR hyperintensity were calculated from each scan. Linear and polynomial regression techniques were used to estimate the rate of change and temporal patterns in tumor volumes. RESULTS: IDH1 mutant GBMs demonstrated a favorable response to RT/TMZ in the study period, as demonstrated by 10 of 10 mutants showing radiographic response (decreasing V(T1+C)), compared with 13 of 29 wild-types (P < .001). During the study period, V(T1+C) and V(FLAIR) changed at -3.6% per week and +0.6% per week in IDH1 mutant tumors, respectively, as compared with +0.8% per week and +5.2% per week in IDH1 wild-type tumors (P = .0076 and P = .0118, respectively). Amongst the radiographic responders, IDH1 mutant GBMs still demonstrated significant progression-free and overall survival benefit. Aggregated tumor kinetics by group showed significant lower rate in IDH1 mutant GBMs in specific periods: >105 days for V(FLAIR) and 95-120 and >150 days for V(T1+C) from starting RT/TMZ. CONCLUSIONS: The current study supports the hypothesis that IDH1 mutant GBMs are more sensitive to radiochemotherapy than IDH1 wild-type GBMs.

A utilização de Toxina Onabotulínica A para bruxismo: Revisão de Literatura / The Use of Onabotulinumtoxin A to bruxism: A Literature Review

Revisão de literatura para avaliar a eficácia da Toxina Onabotulínica A (Botox®) no bruxismo através de pesquisa nas bases de dados eletrônicas PubMed Central Journalse Allergan Product Literature - botulinum toxin (APL), nos últimos 10 anos. Foram selecionados sete trabalhos clínicos relevantes e,a partir destes, outras referências foram localizadas. Os estudos clínicos mostram variações entre dosagem, pontos de aplicação e musculatura. Concluem que aplicações de toxina botulínica podem diminuir os níveis de dor, frequência dos eventos de bruxismo e satisfazer os pacientes no que diz respeito à eficácia da toxina botulínica nesta patologia. Também não provoca efeitos adversos importantes. Assim, o tratamento com Toxina Onabotulínica Aparece ser um tratamento seguro e eficaz para pacientes com bruxismo.

A literature review was performed to assess the efficacy of Onabotulinumtoxin A (Botox®) on bruxism. After having researched articles on botulinum toxin (APL) in the electronic databases PubMed Central Journals and Allergan Product Literature for the last 10 years, we selected seven clinically relevant studies, through which other references were located. While these clinical studies showed variations in doses, injection sites, and injected muscles, botulinum toxin injections are reported to reduce the frequency of bruxism events, lower bruxism-induced pain levels, and show high patient satisfaction levels. In addition, Onabotulinumtoxin A injections do not result in significant adverse effects, making it likely to be a safe and effective treatment for patients with bruxism.

Toxina Botulínica Tipo A para o tratamento da sialorréia: revisão sistemática / Botulinum Toxin A to sialorrhea treatment: a systematic review

Objetivo: Sistematizar as evidências científicas sobre a eficácia da toxina botulínica tipo A no tratamento da sialorréia. Método: A busca bibliográfica foi realizada através de uma pesquisa nas bases de dados PubMed Central Journals e Allergan Product Literature - botulinum toxin (APL) compreendendo o período dos últimos 10 anos, com os descritores: ?sialorrhea?, ?botulinum toxin?, ``treatment?, ?hypersalivation?, ?drooling?. A qualidade metodológica dos estudos foi avaliada pela Escala de Jadad. Resulados: Foram selecionados quatro estudos do tipo ensaio clínico randomizado duplo-cego. Os estudos selecionados mostram que as aplicações de toxina botulínica podem diminuir a sialorréia e suas consequências de forma satisfatória no que diz respeito à eficácia, além de não provocar efeitos adversos importantes. Assim, o tratamento com toxina botulínica tipo A pode apresentar-se como uma opção terapêutica possível para pacientes com sialorréia. Conclusão: Há necessidade de maior número de estudos, que sigam critérios de qualidade, para se chegar a uma conclus

Objective: To systematize scientific evidences about the efficacy of botulinum toxin type A for treatment of sialorrhea. Method: A bibliographic search was performed on the databases PubMed Central Journals and Allergan Product Literature - botulinum toxin (APL) encompassing articles published on the last 10 years containing the keywords: ?sialorrhea?, ?botulinum toxin?, ?treatment?, ?hypersalivation?, ?drooling?. The methodological quality of these articles was evaluated using the Jadad scale. Results: Four randomized, double-blind clinical trials were selected. The selected studies demonstrate that the application of botulinum toxin may satisfactorily reduce sialorrhea and its consequences, and it does not produce important adverse side effects. Therefore, treatment with botulinum toxin type A may be a possible therapeutic option in patients with sialorrhea. Conclusion: More studies with adequate quality are required form a definitive conclusion about the efficacy and safety of this procedure in patients with sialorrhea.

Leiomiomatose uterina: revisão / Uterine leiomyomatosis: review

Os leiomiomas uterinos são tumores monoclonais que se originam de uma mutação somática em um miócito progenitor. Representam a neoplasia benigna mais comum do útero. A causa precisa relacionada ao seu desenvolvimento ainda não foi totalmente esclarecida. As apresentações clínicas mais frequentes são o sangramento anormal, a dor e pressão pélvicas, massa pélvica não diagnosticada anteriormente e infertilidade. O diagnóstico baseia-se na história clínica, no exame físico, que pode ser completamente normal em alguns casos, e nos achados de exames complementares, como a ultrassonografia endovaginal, a histerossonografia e a ressonância magnética. O tratamento varia de acordo com a apresentação clínica e pode ser expectante, clínico ou cirúrgico.

The uterine leiomyomas are monoclonal tumors that originate from a somatic mutation in a myocyte progenitor and are the most common benign tumor of the uterus. The precise cause related to its development has not been fully clarified. The most common clinical presentations are abnormal vaginal bleeding, pelvic pain and pressure, previously undiagnosed pelvic mass, and infertility. The diagnosis is based on clinical history, physical examination, which may be completely normal in some cases, and the findings of laboratory tests such as transvaginal ultrasound, the sonohysterography, MRI. Treatment varies according to clinical presentation and may be expectant, medical or surgical.