Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.

BACKGROUND: Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS increases the risk of autoimmune diseases, including Graves' disease (GD). Moyamoya disease is a rare cerebral arteriopathy of unknown etiology characterized by progressive bilateral stenosis of the internal carotid artery and its branches. Both TS and GD have been associated with Moyamoya. Type 2 spinocerebellar ataxia (SCA2) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in ATXN2. We present the first case of Moyamoya syndrome in a patient with a previous diagnosis of TS and GD who tested positive for SCA2 and had imaging findings compatible with an overlap of SCA2 and Moyamoya. CASE PRESENTATION: A 43-year-old woman presented with mild gait imbalance for 2 years. Her family history was positive for type 2 spinocerebellar ataxia (SCA2). She had been diagnosed with Turner Syndrome (45,X) and Graves disease three years before. Brain MRI revealed bilateral frontal and parietal cystic encephalomalacia in watershed zones, atrophy of pons, middle cerebellar peduncles and cerebellum. MR angiography showed progressive stenosis of both internal carotid arteries with lenticulostriate collaterals, suggestive of Moya-Moya disease. Molecular analysis confirmed the diagnosis of SCA2. CONCLUSIONS: With increased availability of tools for genetic diagnosis, physicians need to be aware of the possibility of a single patient presenting two or more rare diseases. This report underscores the modern dilemmas created by increasingly accurate imaging techniques and available and extensive genetic testing.

Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.

BACKGROUND: Familial Partial Lipodystrophy (FPLD) is a disease with wide clinical and genetic variation, with seven different subtypes described. Until genetic testing becomes feasible in clinical practice, non-invasive tools are used to evaluate body composition in lipodystrophic patients. This study aimed to analyze the different anthropometric parameters used for screening and diagnosis of FPLD, such as thigh skinfold thickness (TS), Köb index (Köbi), leg fat percentage (LFP), fat mass ratio (FMR) and leg-to-total fat mass ratio in grams (LTR), by dual-energy X-ray absorptiometry, focusing on determining cutoff points for TS and LFP within a Brazilian population. METHODS: Thirty-seven patients with FPLD and seventy-four healthy controls matched for body mass index, sex and age were studied. Data were collected through medical record review after signing informed consent. All participants had body fat distribution evaluated by skinfolds and DXA measures. Fasting blood samples were collected to evaluate glycemic and lipid profiles. Genetic studies were carried out on all patients. Two groups were categorized based on genetic testing and/or anthropometric characteristics: FPLD+ (positive genetic test) and FPLD1 (negative genetic testing, but positive clinical/anthropometric criteria for FPLD). RESULTS: Eighteen (48.6%) patients were classified as FPLD+, and 19 (51.4%) as FPLD1. Unlike what is described in the literature, the LMNA variant in codon 582 was the most common. Among the main diagnostic parameters of FPLD, a statistical difference was observed between the groups for, Köbi, TS, LFP, FMR, and LTR. A cutoff point of 20 mm for TS in FPLD women was found, which is lower than the value classically described in the literature for the diagnosis of FPLD. Additionally, an LFP < 29.6% appears to be a useful tool to aid in the diagnosis of these women. CONCLUSION: Combining anthropometric measurements to assess body fat distribution can lead to a more accurate diagnosis of FPLD. This study suggests new cutoff points for thigh skinfold and leg fat percentage in women with suspected FPLD in Brazil. Further studies are needed to confirm these findings.

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.

Background: There is a lack of information on the clinical and molecular presentation of familial partial lipodystrophy (FPLD), a rare genetic disorder characterized by partial subcutaneous fat loss. Objective: This study aimed to provide a comprehensive assessment of the clinical, metabolic, and genetic features of FPLD in the Brazilian population. Methods: In a multicenter cross-sectional investigation we evaluated patients with FPLD across five Brazilian reference centers for lipodystrophies. Diagnosis of FPLD was made by clinical evaluation and genetic confirmation. Data on genetic, clinical, and metabolic characteristics were captured. Statistical analysis involved the utilization of the Kruskal-Wallis test to identify differences. Results: The study included 106 patients with genetic confirmation of FPLD. The mean age was 44 ± 15 years, and they were predominantly female (78.3%). LMNA pathogenic variants were identified in 85.8% of patients, PPARG in 10.4%, PLIN1 in 2.8%, and MFN2 in 0.9%. Diabetes mellitus (DM) was highly prevalent (57.5%), affecting 54 females (50.9%). Median triglycerides levels were 199 mg/dL (54-2724 mg/dL), severe hypertriglyceridemia (≥ 500 mg/dL) was found in 34.9% and pancreatitis in 8.5%. Metabolic-associated fatty liver disease (MAFLD) was observed in 56.6%, and cardiovascular disease in 10.4%. The overall mortality rate was 3.8%, due to cardiovascular events. Conclusion: This study presents an extensive cohort of Brazilian patients with FPLD, predominantly DM with several multisystem complications. A comprehensive characterization of lipodystrophy syndromes is crucial for effective patient management and care.

Impacto da reconstrução mamária na qualidade de vida de pacientes mastectomizadas atendidas no Serviço de Cirurgia Plástica do Hospital Universitário Walter Cantídio / The impact of breast reconstruction on the quality of life of patients after mastectomy at the Plastic Surgery Service of Walter Cantídio University Hospital

INTRODUÇÃO: A reconstrução mamária tem por objetivo restabelecer a estética corporal e melhorar a autoimagem da paciente, restaurando o volume perdido e assegurando simetria com a mama contralateral. O objetivo deste trabalho é verificar a qualidade de vida de pacientes mastectomizadas e submetidas a reconstrução mamária imediata ou tardia, abordando os domínios físico, psicológico e social. MÉTODO: Foram estudadas 27 pacientes submetidas a reconstrução mamária no Hospital Universitário Walter Cantídio, entre agosto de 2007 e agosto de 2012. Foi realizado um estudo transversal, com avaliação da qualidade de vida por meio da aplicação do questionário World Health Organization Quality of life (WHOQOL) abreviado. RESULTADOS: As pacientes entrevistadas avaliaram positivamente sua qualidade de vida, com atribuição da nota 4 (boa) por 41% e 5 (muita boa) por 33% das entrevistadas à pergunta "Como você avaliaria sua qualidade de vida?". Dentre as pacientes entrevistadas, 81% foram submetidas a reconstrução imediata e a maioria delas (45%) atribuiu nota 4 (boa) à pergunta "Como você avaliaria sua qualidade de vida?". Por outro lado, 60% das pacientes submetidas a reconstrução tardia atribuíram nota 5 (muito boa) a essa pergunta. CONCLUSÕES: Os resultados demonstram que a reconstrução mamária possibilita à mulher mastectomizada incorporar ao tratamento do câncer de mama conceitos de qualidade de vida, trazendo benefícios físicos, psicológicos e sociais.

INTRODUCTION: The aim of breast reconstruction is to restore body contour and improve the patient's self-image by replacing the volume loss and ensuring proper symmetry with the contralateral breast. This study evaluated the quality of life and physical, psychological, and social aspects of patients who underwent mastectomy and immediate or delayed breast reconstruction. METHODS: Twenty-seven patients underwent breast reconstruction at Walter Cantídio University Hospital between August 2007 and August 2012. The World Health Organization Quality of Life survey was used to conduct a cross-sectional study to evaluate patient quality of life. RESULTS: The patients positively evaluated their quality of life. A score of 4 (good) and 5 (very good) was assigned by 41% and 33% of women, respectively, to the question "How would you rate your quality of life?" Among the patients, 81% underwent immediate reconstruction and most (45%) assigned a score of 4 (good) to the question "How would you evaluate your quality of life?" A total of 60% of patients who underwent delayed reconstruction attributed a score of 5 (very good) to this question. CONCLUSIONS: These results demonstrate that breast reconstruction after mastectomy results in good or very good quality of life and is associated with physical, psychological, and social benefits.

Impacto da radioterapia adjuvante no resultado cosmético da reconstrução mamária imediata com retalho TRAM / Impact of adjuvant radiotherapy on the cosmetic outcome of immediate breast reconstruction performed using a transverse rectus abdominis myocutaneous flap

INTRODUÇÃO: O efeito da radioterapia adjuvante após a reconstrução mamária com retalhos autólogos é controverso. O objetivo deste estudo é analisar se a radioterapia pós-operatória causa alterações volumétricas e cosméticas após a reconstrução mamária imediata com retalho do músculo reto abdominal (TRAM, do inglês transverse rectus abdominis myocutaneous). MÉTODO: No total, foram avaliadas 25 pacientes submetidas a reconstrução autóloga com retalho TRAM pediculado pós-mastectomia por câncer de mama e radioterapia adjuvante. Os resultados estéticos tardios foram coletados após o intervalo mínimo de 6 meses posteriormente ao esquema completo da radioterapia. RESULTADOS: A média de idade das pacientes foi de 42,2 anos, variando de 30 anos a 53 anos. Duas (8%) perdas completas do retalho ocorreram por necrose gordurosa maciça, duas (8%) pacientes evoluíram com contratura do retalho e perda volumétrica, e 52% das pacientes apresentaram alterações cutâneas. Entretanto, a maioria das pacientes (84%) não evoluiu com perda significativa do volume inicial do retalho ou com distorção do contorno e contração do retalho. CONCLUSÕES: O resultado cosmético após a reconstrução mamária imediata com retalho TRAM irradiado foi aceitável, comparativamente aos dados descritos na literatura. Esses achados indicam que os retalhos podem sofrer distorções de contorno pela contração, além de perda volumétrica significativa em pacientes candidatas à reconstrução com TRAM e necessidade de radioterapia adjuvante pós-mastectomia. Assim, as complicações tardias da irradiação pós-operatória devem ser consideradas nesse contexto.

BACKGROUND: The outcome of adjuvant radiotherapy performed after breast reconstruction using autologous flaps is controversial. In this study, we aimed to assess whether postoperative radiotherapy would induce volumetric and cosmetic changes after immediate breast reconstruction performed using a transverse rectus abdominis myocutaneous (TRAM) flap. METHODS: We evaluated 25 patients who were previously diagnosed with breast cancer and underwent post-mastectomy autologous reconstruction with a pedicled TRAM flap followed by adjuvant radiotherapy. Late aesthetic results were recorded starting 6 months after the completion of a full course of radiotherapy. RESULTS: The average patient age was 42.2 years (range, 30-53 years). Two (8%) complete flap losses occurred due to massive fat necrosis. Two (8%) patients exhibited flap contracture and volume loss, whereas skin changes were observed in 52% of patients. Most of the patients (84%), however, had no significant initial flap volume loss, contour distortion, or flap contraction . CONCLUSIONS: The cosmetic result obtained in the present study by immediate breast reconstruction performed using an irradiated TRAM flap was satisfactory compared to the data described in the literature. These findings suggest that the flap contours may be distorted by contraction and that significant volume losses can be observed in patients who may be candidates for TRAM flap reconstruction and require post-mastectomy adjuvant radiotherapy. Thus, in these circumstances, late complications due to postoperative irradiation should be considered.

Complicações em reconstrução de mama com retalho pediculado do músculo reto abdominal transverso / Complications in breast reconstruction using a transverse rectus abdominis myocutaneous flap", "_e": "n

INTRODUÇÃO: O câncer de mama é a afecção que mais causa mortes na população feminina. Seu tratamento é principalmente cirúrgico, o que causa grande impacto psicossocial na mulher. Para diminuir esse abalo, a cirurgia reconstrutiva oferece diferentes opções, como o retalho do músculo reto abdominal transverso (TRAM). Essa é uma alternativa de reconstrução que tem sido bastante utilizada nos últimos 30 anos, mundialmente. Embora seja a mais aplicada e a técnica que possibilita melhores resultados estéticos e funcionais, não deixa de apresentar complicações. O objetivo deste estudo é apresentar as principais complicações do TRAM de acordo com suas variantes (ipsilateral, contralateral e bilateral) e com o tempo da reconstrução. MÉTODO: Foram avaliadas 30 pacientes submetidas a mastectomia e reconstrução mamária com TRAM pediculado, sendo 25 reconstruções imediatas e 5 tardias. Foram analisadas as complicações das áreas doadora e receptora. RESULTADOS: Dentre as complicações identificadas, a necrose gordurosa na mama foi a mais incidente, mas também foram verificados casos de infecção, seroma, hérnia abdominal, sofrimento da pele em áreas doadora e receptora, e trombose venosa profunda. As complicações foram mais frequentes nas pacientes que realizaram o TRAM bilateral tardiamente. CONCLUSÕES: Assim como todos os tipos de cirurgia, a reconstrução de mama pelo TRAM, mesmo passados 30 anos desde sua descrição, está sujeita a diversas complicações no pós-operatório.

BACKGROUND: Breast cancer is the leading cause of death in the female population. The treatment for breast cancer is primarily surgical, which has a great psychosocial impact on women. To reduce this trauma, reconstructive surgery offers different options including the use of a retail transverse rectus abdominis (TRAM) flap. This is an alternative reconstruction that has been widely used worldwide over the last 30 years. Although reconstruction using the TRAM flap is the most widely used technique that yields the best aesthetic and functional results, it is associated with certain complications. The aim of this study is to present the main complications of reconstruction using the TRAM flap according to its variants (ipsilateral, contralateral, and bilateral) and reconstruction time. METHODS: We evaluated 30 patients who had a mastectomy and breast reconstruction using the TRAM flap, including 25 immediate reconstructions and 5 late reconstructions, and analyzed the complications of the donor and recipient areas. RESULTS: Among the identified complications, fat necrosis in the breast was the most frequent, but we also observed cases of infection, seroma, abdominal hernia, skin injury at the donor and recipient areas, and deep vein thrombosis. Complications were more frequent in patients who underwent late reconstruction with a bilateral TRAM flap. CONCLUSIONS: Thus, similar to other types of surgery, breast reconstruction using the TRAM flap is associated with various postoperative complications, even 30 years after it was first introduced.