Mauro Andrade

Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families

We previously described six families with Milroy congenital lymphedema, only one of which showed possible linkage to a candidate locus on chromosome 5 [Witte et al., 1998]. We have now performed a complex segregation analysis of these families, and performed linkage analyses with the other 387 markers used in our genome-wide search. Our results confirm that Milroy lymphedema is generally inherited as a dominant condition. However, this mode of inheritance, as elucidated from the segregation analyses, did not account for all observed familial correlations. The segregation analysis also suggested that shared environmental or additional genetic factors are important in explaining the observed familial aggregation. The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib-pair non-parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family.

Low-level laser therapy in secondary lymphedema after breast cancer: systematic review

Complex physical therapy is the main treatment for the secondary lymphedema after breast cancer. The low-level laser therapy (LLLT) has been used in order to stimulate lymphangiogenesis, encourage lymphatic motility, and reduce lymphostatic fibrosis. However, these factors could also favor the development of recurrence and metastasis. The objective of this study is to discuss the use of LLLT in the treatment of lymphedema after breast cancer. This study utilized a systematic review on the use of LLLT in the treatment of lymphedema after breast cancer. Evaluating quality of articles was conducted through the PEDro scale. Of the 41 articles identified, four were considered to be of high methodological quality (score ≥ 5). The low-level laser in the axillary region was performed in all studies. The control group was not similar across studies. The results presented showed that there was a reduction in limb volume in the group subjected to low-power laser when compared with other treatments. No studies have evaluated the risk of metastasis or relapse in the irradiated areas. Because no studies have included the complex physical therapy as the comparison group, we cannot claim that laser treatment is the best efficacy or effectiveness in lymphedema treatment after breast cancer. No studies have evaluated the hypothesis that the LLLT can increase the risk of recurrence or metastasis. Therefore, the questions about the safety of this procedure in cancer patients remain.

Trigger Points: An Anatomical Substratum

This study aimed to bring the trapezius muscle knowledge of the locations where the accessory nerve branches enter the muscle belly to reach the motor endplates and find myofascial trigger points (MTrPs). Although anatomoclinical correlations represent a major feature of MTrP, no previous reports describing the distribution of the accessory nerve branches and their anatomical relationship with MTrP are found in the literature. Both trapezius muscles from twelve adult cadavers were carefully dissected by the authors (anatomy professors and medical graduate students) to observe the exact point where the branches of the spinal accessory nerve entered the muscle belly. Dissection was performed through stratigraphic layers to preserve the motor innervation of the trapezius muscle, which is located deep in the muscle. Seven points are described, four of which are motor points: in all cases, these locations corresponded to clinically described MTrPs. The four points were common in these twelve cadavers. This type of clinical correlation between spinal accessory nerve branching and MTrP is useful to achieve a better understanding of the anatomical correlation of MTrP and the physiopathology of these disorders and may provide a scientific basis for their treatment, rendering useful additional information to therapists to achieve better diagnoses and improve therapeutic approaches.

Quality of Life and Volume Reduction in Women with Secondary Lymphoedema Related to Breast Cancer

Purpose. To assess the quality of life (QOL) as a predictor of volume reduction in women undergoing complex physical therapy (CPT) for lymphoedema following breast cancer. Methods. Clinical trial in 57 women undergoing CPT. Results. At baseline, in measuring quality of life for the EORTC QLQ-C30 questionnaire subscale of functionality, the worst scores for emotional function (55 points) and better social function (89 points) were observed. The symptom scales showed the worst pain averaged (66 points). The overall quality of life showed a low score (40 points). In the BR 23 module, low scores were observed in the field of future perspective (47 points). After treatment of lymphoedema, absolute reduction of excess volume between the upper limbs of 282 mL was observed, representing a reduction of 15%. No association was observed between the domains of quality of life and response to treatment of lymphoedema. Conclusion. This study included 57 women with advanced and chronic lymphoedema in early treatment with CPT and low scores for quality of life. The lymphoedema therapeutic response was not influenced by the QOL at the beginning of treatment.

Unusual Relationship between the Piriform Muscle and Sciatic, Inferior Gluteal and Posterior Femoral Cutaneous Nerves

El sindrome del musculo piriforme se ha reconocido cada vez mas como una causa de dolor en los miembros inferiores. Tension excesiva o variaciones anatomicas del nervio y del musculo piriforme se cree son las causas subyacentes de pinzamiento del nervio isquiatico. Se presenta una variacion no descrita anteriormente. Durante una diseccion de rutina en un cadaver de sexo masculino, se observo una division mas alta del nervio isquiatico y la presencia de un musculo piriforme accesorio. El nervio isquiatico se dividia bajo el musculo piriforme y el nervio fibular comun pasaba sobre el musculo piriforme accesorio. Por otra parte, el nervio tibial cruzaba entre los musculos piriforme accesorio y gemelo superior. Ademas, ambos nervios se comunicaban con un ramo lateral bajo el margen inferior del musculo piriforme accesorio y el nervio gluteo inferior se originaba desde el nervio fibular. Variaciones anatomicas y relaciones entre el musculo piriforme y nervio isquiatico pueden estar presentes hasta en el 17% de la poblacion. Seis variaciones diferentes se han descrito en este articulo y ninguna es similar a nuestra descripcion. A pesar del completo entendimiento de la fisiopatologia del sindrome del musculo piriforme, aun queda por esclarecer y conocer las posibles variaciones anatomicas que pueden ser utiles tanto para su diagnostico como para el tratamiento adecuado.

Translation and Cross-Cultural Adaptation of the Lymphoedema Functioning, Disability and Health Questionnaire for Lower Limb Lymphoedema into Portuguese Language

OBJECTIVE The objective of the study is to describe the process of translation and cross-cultural adaptation of the Lymphoedema Functioning, Disability, and Health Questionnaire for Lower Limb Lymphoedema (Lymph-ICF-LL) into (Brazilian) Portuguese. METHODS The process was comprised of five steps - translation, back translation, revision by an expert panel, pretest, and final translation. The first translation was performed by two professionals of the healthcare area, and the back translation was performed by two translators. An expert panel assessed the questions for semantics and idiomatic, cultural, and conceptual equivalence. The pretest was conducted on 10 patients with lymphedema. RESULTS Small differences were identified between the translated and back-translated versions, which were revised by the expert panel. The patients included in the pretest found 10 questions difficult to understand; these questions were reassessed by the same expert panel. CONCLUSION The results of the translation and cross-cultural adaptation of the Lymph-ICF-LL resulted in a Brazilian Portuguese version, which still requires validation with various samples of the local population.

A Rare Pattern of Brachial Artery Variation: Case Report

A diferencia del sistema venoso, las variaciones en la anatomia arterial son menos frecuentes y la mayoria afecta a las arterias viscerales. En los miembros, las variaciones de la arteria braquial son las mas informadas y por lo menos seis diferentes patrones han sido descritos. La variacion mas comun es de la arteria braquial superficial que esta superficialmente al nervio mediano. Mucho menos frecuente es el origen alto de la arteria braquial radial (la arteria braquiorradial) o la existencia de una arteria braquial doble (arteria braquial accesoria). Presentamos un patron de variacion no descrito de la arteria braquial observado durante la diseccion del miembro superior derecho de un cadaver en un hombre de 60 anos de edad. Encontramos la bifurcacion de la arteria braquial en la porcion medial del brazo, pasando posterior al nervio mediano. Luego, esta rama medial se redirecciona lateralmente y cruza nuevamente al nervio mediano, esta vez, anterior a el, hasta alcanzar la region lateral del brazo. A nivel de la flexura del codo, la rama medial origina la arteria radial. La rama lateral de la arteria braquial se mantiene lateral al nervio mediano y continua como arteria ulnar y origina la arteria interosea comun.

Linfangiogênese e genética dos linfedemas: revisão da literatura

O estudo do genoma humano propiciou recentes descobertas de genes e de complexos mecanismos de controle da linfangiogenese. Neste artigo esses conhecimentos sao revistos, com suas implicacoes na embriogenese e desenvolvimento do sistema linfatico e na etiopatogenia de diferentes formas e sindromes de linfedema hereditario. Algumas doencas linfaticas de transmissao genetica e sindromes de aneuploidia sao descritas nas suas caracteristicas genotipicas e fenotipicas. Os avancos na compreensao do crescimento e desenvolvimento dos vasos linfaticos devem trazer novas alternativas terapeuticas nas linfangiodisplasias e no controle da disseminacao linfatica dos tumores.

Lymph drainage of the upper limb and mammary region to the axilla: anatomical study in stillborns

PurposeWe studied the lymphatic drainage of the upper limb and mammary region directing to the axilla to investigate whether independent pathways can be observed or whether anastomoses and shared drainage occur between them. This analysis aimed to assess the safety of axillary reverse mapping (ARM) in breast cancer treatment and to understand the development of lymphedema after sentinel lymph node biopsy (SLNB) alone.MethodsSeven unfixed stillborn fetuses were injected with a modified Gerota mass in the peri-areolar area, palm and dorsum of the hands, formalin fixed, and then submerged in 10% hydrogen peroxide solution. Microsurgical dissection was then performed on the subcutaneous cellular tissue of the upper limb, axillary region, and anterior thorax to expose the lymphatic vessels and lymph nodes.ResultsThe dye injected into the upper limb reached either the lateral axillary group, known to be exclusively responsible for upper limb drainage, or the anterior group, which is typically related to breast drainage. There was great proximity among the pathways and lymph nodes. Communicating lymphatic vessels among these groups of lymph nodes were also found in all studied cases.DiscussionLymphedema remains a challenging morbidity in breast cancer treatment. ARM and SLNB aim to avoid unnecessary damage to the lymphatic drainage of the upper limb. However, our anatomical study suggests that ARM may have potential oncological risks because preserved lymph nodes may harbor malignant cells due their proximity, overlapping drainage pathways, and connecting lymph vessels among lymph nodes.

Anatomy of the Lymphatic Drainage of the Upper Limb and Breast and its Role in Lymphedema Prevention after Breast Cancer Treatment

El tratamiento quirurgico del cancer de mama ha mejorado a lo largo de los anos con el fin de ofrecer resultados oncologicamente mas seguros y eficaces con menor impacto estetico y menos secuelas. El linfedema del miembro superior es todavia un resultado iatrogenico de gran incidencia y morbilidad despues de este tratamiento. La posible existencia de vias linfaticas de mama y de los miembros superiores independientes se ha convertido en un tema central de muchas investigaciones para lograr minimizar su ocurrencia. Esta revision tiene como objetivo comparar las vias linfaticas en la axila descritas en los libros de anatomia tradicionales con articulos recientemente publicados sobre Mapeo Reverso Axilar (MRA). Con este fin, se realizo un cuadro comparativo con las descripciones y un diagrama de flujo de las anastomosis entre los nodos, ademas de un dibujo analitico de las areas drenadas estadisticamente mas mencionadas. Se observo que existe una gran variabilidad en las descripciones sobre el drenaje y las anastomosis entre los nodos linfaticos, por lo que la descripcion universal no deberia ser considerada un consenso debido a que tambien presenta posibles variaciones anatomicas. Por otra parte, los resultados producidos por los estudios recientes muestran posibles anastomosis entre las vias y los nodos linfaticos, sin embargo, no se han tomado en consideracion cuando se propuso inicialmente el MRA. Por lo tanto, la reseccion axilar con la preservacion de la parte posterior y los nodos linfaticos axilares laterales es teoricamente posible para evitar el linfedema del miembro superior, pero el desarrollo de una descripcion universal actualizada, que incluya todas las posibles variaciones anatomicas, proporcionara un tratamiento mas seguro y eficaz.