Shedding Light on Multiple Symmetric Lipomatosis: An Overlooked Syndrome in the Evaluation of Obesity.

BACKGROUND Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome, is a rare syndrome that is frequently misinterpreted as simple obesity. It has seldom been reported. Both conditions can coexist; however, unlike common obesity, in which total body fat is well distributed, patients affected by MSL present with symmetrical, painless fat masses that predominantly appear in the face, neck, occipital region and supraclavicular fossa. Launois-Bensaude syndrome's etiology is still poorly understood but an association with alcohol use has been documented. CASE REPORT A 49-year-old woman was referred to our department due to class II obesity (body mass index of 39.8 kg/m²). She had a history of arterial hypertension and daily wine consumption (2 glasses on average). She complained of weight gain after menopause and she reported having tried multiple times to lose weight by herself without success. On physical examination, the patient had an unusual pattern of fat distribution: exuberant symmetrical fat masses that were localized in her arms and thighs and spared her face, neck, forearms, and lower legs. She claimed that these masses had a rapid onset and then stabilized. The clinical history and the patient's phenotype were compatible with a non-classic type of Launois-Bensaude syndrome. CONCLUSIONS We concluded that our patient's condition encompasses more than just simple obesity; it involved a distinct form of adiposopathy that led to a completely different clinical approach. A detailed physical examination seems to be key for clinical suspicion of this rare syndrome, which can be a true pitfall in obesity evaluation.

A Retrospective Cohort Study on Diabetic Foot Disease: Ascertainment of Ulcer Locations by Age Group.

Background and aims Diabetic foot ulcer location is a known independent predictor for cure with a better healing gradient proximal to distal. Although advanced age is one of the main factors associated with greater diabetic foot ulcer severity, there are no studies evaluating diabetic foot ulcer location specifically in the elderly population in an outpatient setting. This study evaluated diabetic foot ulcer location and age-group interactions in diabetic foot presentation. Methods A retrospective cohort study including adult patients with diabetic foot ulcers observed on their first visit to our center's Diabetic Foot Unit in 2018, divided into younger adults (YA) (18 to 64 years) and older adults (OA) (≥65 years). Results A total of 435 patients were included in the study with 159 (36.6%) in the YA, and 276 (63.4%) in the OA group. Neuro-ischemic diabetic foot ulcers were more frequent in the OA group (71.4% vs 43.4%, p<0.001). The number of patients with a history of diabetic foot ulcers was lower in the OA group (18.1% vs 25.2%, p=0.03). A smaller proportion of forefoot diabetic foot ulcers (74.9% vs 86.2%, p=0.007) and plantar location diabetic foot ulcers (9.4% vs 24.5%, p<0.001) occurred in the OA group. By univariate logistic regression analysis, we found two associations with older age: proximal (odds ratio (OR) 2.09 (1.23-3.53), p=0.006), and non-plantar (OR 3.13 (1.82-5.37), p<0.001) diabetic foot ulcer location. After adjusting for potential confounders in a multivariate analysis, older age lost the association to more proximal (OR 1.72 (0.94-3.15), p=0.081) and non-plantar (OR 1.78 (0.83-3.77), p=0.133) diabetic foot ulcer location. Conclusions There are essential age differences in diabetic foot ulcer presentation. The OA group more frequently presents neuro-ischemic diabetic foot ulcers with more proximal and non-plantar locations.

Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant.

Introduction: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia. Recent studies have indicated that up to 40% of pheochromocytomas could be attributable to an inherited germline variant in an increasing list of susceptibility genes. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial pheochromocytomas and paragangliomas with an autosomal dominant pattern of inheritance, a median age at onset of 33 years and an overall frequency estimated at 1.9%. We describe a deleterious MAX variant associated with hereditary pheochromocytoma in a family with four affected individuals. Case presentation: The first patient presented with bilateral pheochromocytoma in 1995; genetic testing was proposed to his oldest son, when he was diagnosed with a bilateral pheochromocytoma with a synchronous neuroblastoma. Upon the identification of the MAX variant c.97C>T, p.(Arg33Ter), in the latter individual, his two siblings and their father were tested and the same variant was identified in all of them. Both siblings were subsequently diagnosed with pheochromocytoma (one of them bilateral) and choose to remain on active surveillance before they were submitted to adrenalectomy. All the tumours secreted predominantly norepinephrine, accordingly to the typical biochemical phenotype ascribed to variants in the MAX gene. Conclusion: This case series is, to our knowledge, the one with the largest number of individuals with hereditary pheochromocytoma with a deleterious MAX variant in the same family. It is also the first case with a synchronous pheochromocytoma and neuroblastoma in carriers of a MAX deleterious variant. This report draws attention to some ill-defined features of pheochromocytoma and other malignancies associated with a MAX variant and highlights the importance of understanding the genotype-phenotype correlation in hereditary pheochromocytoma and the impact of oriented genetic testing to detect, survey and treat patients and kindreds at risk.

Diagnostic accuracy of Bilateral Inferior Petrosal Sinus Sampling: The Experience of a Tertiary Centre.

PURPOSE: To assess the accuracy of bilateral inferior petrosal sinus sampling both in the differential diagnosis of adrenocorticotrophic hormone dependent Cushing's syndrome and predicting the localization on the pituitary. METHODS: The authors evaluated all patients that undergone bilateral inferior petrosal sinus sampling in a tertiary centre, between January 1995 and March 2018. The probable diagnosis of Cushing's disease was made when the basal central/peripheral gradient was>2 and/or>3 after stimulation with corticotrophin releasing hormone. The localization was suggested when the inter-sinus gradient was>1.4. The results obtained were compared with the post operatory results: compatible histology and positive immunohistochemistry to adrenocorticotrophic hormone and/or the presence of criteria of cure. Sensitivity, specificity and predictive positive value were calculated. RESULTS: A total of 49 patients were evaluated (75.5% female; mean age 45.4±16.3 years old). Bilateral inferior petrosal sinus sampling was compatible with Cushing's disease in 27 out of 28 confirmed cases in histology or by criteria of cure, and was compatible with ectopic secretion in the 2 cases confirmed as ectopic secretion of adrenocorticotrophic hormone (sensitivity 96.4%; specificity 100%). The lateralization calculated was concordant with the results after surgery in 17 out of 27 patients with Cushing's disease - predictive positive value of 63%. Magnetic resonance had a higher predictive value to lateralization - 70.0%. CONCLUSIONS: Bilateral inferior petrosal sinus sampling is a safe and reliable procedure to diagnose Cushing's disease, with great sensitivity and specificity. Nevertheless, the capacity of this procedure to lateralize the lesion inside the pituitary is limited.

Evolutionary trends in bacteria isolated from moderate and severe diabetic foot infections in a Portuguese tertiary center.

INTRODUCTION: Diabetic Foot infections (DFI) are a major cause of hospitalization in patients with diabetes. The microbiological study of diabetic ulcers is essential to adequate antibiotic therapy and to minimize the selection of resistant microorganisms. The aim of this study was to characterize and to compare the evolution of isolated microorganisms between the biennium 2010-2011 and 2016-2017, in hospitalized patients with DFI. MATERIAL AND METHODS: Retrospective evaluation of the clinical and analytical data of patients who were admitted due to DFI in 2010-2011 (group 2010/11) and 2016-2017 (group 2016/17). Only the first hospitalization for each patient was included. An adequate descriptive and comparative statistical analysis was performed. RESULTS: There were 274 admissions due to DFI, 151 in 2010/11 and 123 in 2016/17. There was an increase in admissions due to neuroischemic DFI (51.0% in 2010/11 to 61.8% in 2016/17, p = 0.048). Staphylococcus aureus (SA) was the most common isolate in 2010/11 (26.7%). In 2016/17 most cultures were mixed polymicrobial and isolation of Enterobacteriaceae and Pseudomonas aeruginosa increased from 2010/11 to 2016/17 (15.9% to 30.6%, p = 0.001, and 9.1% to 13.7%, p = 0.048, respectively). CONCLUSION: There was an increase in the prevalence of neuroischemic DFU. The Enterobacteriaceae family replaced SA as the most prevalent pathogen in DFI, with an increase in the isolation of gram-negative microorganisms and mixed polymicrobial cultures. Chronic neuroischemic infected ulcers usually present distinct bacterial isolates; knowledge about the most common agents is warranted in order to better select empiric antibiotic therapy.

Lipoprotein apheresis in the management of severe hypercholesterolemia and hyperlipoproteinemia(a)-The Portuguese experience.

BACKGROUND: Low-density lipoprotein cholesterol (LDL-C) and lipoprotein(a) (Lp(a)) are established causal risk factors for cardiovascular disease (CVD). Lipoprotein apheresis is often required for treatment of patients with a high risk for CVD due to hypercholesterolemia and/or hyperlipoproteinemia(a). AIM: To describe our experience with lipoprotein apheresis in patients with severe hypercholesterolemia or with hyperlipoproteinemia(a). METHODS: We retrospectively investigated patients treated with Lipoprotein apheresis using direct adsorption of lipoproteins (DALI) technique, between December 2008 and March 2018, in our center. Adverse events, acute and long term reductions in lipid parameters were analyzed. RESULTS: Between December 2008 and March 2018, a total of 950 treatments were performed in five patients, four with heterozygous familial hypercholesterolemia (HeFH), all on maximally tolerated cholesterol-lowering drug therapy and in one patient with hyperlipoproteinemia(a) and progressive CVD. In the four patients with HeFH we obtained mean acute reductions in LDL-C and non-high-density lipoprotein cholesterol (non-HDL-C) of 62.0 ± 7.8% and 60.4 ± 6.8%, respectively. Regarding long-term efficacy we achieved a mean reduction of 43.1% in LDL-C and of 41.2% in non-HDL-C. In the patient with hyperlipoproteinemia(a) we attained mean acute reductions of 60.4 ± 6.4% in Lp(a) and of 75.4 ± 7.3% in LDL-C per session and long term reductions in Lp(a) and LDL-C of 67.4% and 40.5%, respectively. Adverse events were recorded in only 1.2% of treatments. CONCLUSION: Lipoprotein apheresis is an efficient and safe treatment in severely hypercholesterolemic patients who are refractory to conservative lipid-lowering therapy or with hyperlipoproteinemia(a) and progressive CVD.

Short-term predictors of amputation in patients with diabetic foot ulcers.

BACKGROUND: Diabetic foot ulcers are the leading cause of non-traumatic lower extremity amputation. The aim of this study was to establish short-term predictors of lower extremity amputation (LEA) in patients with diabetic foot ulcers (DFU). METHODS: A retrospective observational study was performed. Patients observed for the first time in a multidisciplinary outpatient diabetic foot clinic during 1-year were reviewed. We examined demographic and clinical data and the occurrence of LEA within 180 days. Bivariate descriptive analysis was performed and three logistic regression models were created to predict short-term LEA. RESULTS: During 1-year 613 patients were observed for the first time in our diabetic foot clinic. Relevant data and eligibility was available from 479 patients with DFU; 38.41%, 40,71% and 20,88% had neuropathic, neuroischemic and ischemic ulcers, respectively. Considering a follow-up of 180 days, amputation occurred in 10.02% (n = 48) of patients: 3.13% (n = 15) major amputation and 6.89% (n = 33) minor amputation. Independent predictors of short-term LEA included moderate to severe infection [OR 5.23 (IC 95% 2.51-10.80; p < 0.001)], previous history of LEA [OR 3.93 (IC 95% 1.81-8.53; p = 0.001)], peripheral arterial disease [OR 3.51 (IC 95% 1.29-9.58; p = 0.014)] and presence of any walking disability [OR 3.35 (IC 95% 1.58-7.13; p = 0.002)]. CONCLUSION: In DFU patients the risk of LEA at 180 days is associated to moderate to severe infection at the initial presentation, previous history of LEA, peripheral arterial disease and presence of any walking disability. To prevent future amputations these patients should be identified early and managed by a multidisciplinary team. LEVEL OF CLINICAL EVIDENCE: Level 2.

Primary adrenal insufficiency in adult population: a Portuguese Multicentre Study by the Adrenal Tumours Study Group.

INTRODUCTION: Primary adrenal insufficiency (PAI) is a rare but severe and potentially life-threatening condition. No previous studies have characterized Portuguese patients with PAI. AIMS: To characterize the clinical presentation, diagnostic workup, treatment and follow-up of Portuguese patients with confirmed PAI. METHODS: This multicentre retrospective study examined PAI patients in 12 Portuguese hospitals. RESULTS: We investigated 278 patients with PAI (55.8% were females), with a mean age of 33.6 ± 19.3 years at diagnosis. The most frequent presenting clinical features were asthenia (60.1%), mucocutaneous hyperpigmentation (55.0%) and weight loss (43.2%); 29.1% of the patients presented with adrenal crisis. Diagnosis was established by high plasma ACTH and low serum cortisol in most patients (43.9%). The most common aetiology of PAI was autoimmune adrenalitis (61.0%). There were 38 idiopathic cases. Autoimmune comorbidities were found in 70% of the patients, the most frequent being autoimmune thyroiditis (60.7%) and type 1 diabetes mellitus (17.3%). Seventy-nine percent were treated with hydrocortisone (mean dose 26.3 ± 8.3 mg/day) mostly in three (57.5%) or two (37.4%) daily doses. The remaining patients were treated with prednisolone (10.1%), dexamethasone (6.2%) and methylprednisolone (0.7%); 66.2% were also on fludrocortisone (median dose of 100 µg/day). Since diagnosis, 33.5% of patients were hospitalized for disease decompensation. In the last appointment, 17.2% of patients had complaints (7.6% asthenia and 6.5% depression) and 9.7% had electrolyte disturbances. CONCLUSION: This is the first multicentre Portuguese study regarding PAI. The results emphasize the need for standardization in diagnostic tests and etiological investigation and provide a framework for improving treatment.

Segurança e viabilidade de um novo formato de retalho toracoepigástrico na reconstrução da parede torácica em câncer de mama localmente avançado: um estudo transversal / Safety and viability of a new format of thoracoepigastric flap for reconstruction of the chest wall in locally advanced breast cancer: a cross-sectional study

INTRODUÇÃO: Pacientes submetidas à mastectomia radical, com extensa perda tecidual, necessitam de procedimento cirúrgico de fechamento rápido e simples da lesão, com boa cobertura cutânea e mínima morbidade, para que possam receber precocemente tratamentos complementares. Estudamos a eficácia e a segurança de um novo formato do retalho toracoepigástrico com o posicionamento semissentado (Fowler) da paciente durante a cirurgia. A hipótese é de que o procedimento, além de obter adequado fechamento de grandes lesões, permita garantir a sobrevivência do retalho. MÉTODOS: Foram analisadas todas as pacientes consecutivamente operadas com mastectomias radicais entre 2009 e 2014 submetidas a reconstruções torácicas. Os principais desfechos analisados foram a viabilidade do retalho e a eficácia no fechamento cirúrgico. RESULTADOS: No período do estudo, foram operadas 29 pacientes com tumor localmente avançado (90%) ou recidivado (10%), uma operada bilateralmente (30 retalhos); vinte e três (79%) com estadiamento III e seis (21%), estadiamento IV. A extensão das áreas ressecadas variou de 20 x 15 cm a 13 x 9 cm (média 15,5 x 11,6 cm). Retalho toracoepigástrico foi utilizado com dimensões variando de 25 x 12 cm a 18 x 8 cm (média de 21,3 x 10,4 cm). Houve apenas duas deiscências (7%), que cicatrizaram sem necessidade de intervenção cirúrgica, e um hematoma, drenado cirurgicamente. Uma paciente faleceu no 11º dia pós-operatório. CONCLUSÃO: O retalho toracoepigástrico foi eficaz e seguro, sem necessidade do uso de outros retalhos ou enxertos cutâneos, fechando a área doadora adequadamente em todos os casos. Todas as pacientes, excluindo o óbito, estavam aptas para o tratamento complementar após um mês.

INTRODUCTION: Patients who undergo radical mastectomy with extensive tissue loss require a surgical procedure for rapid and simple closure of the lesion, with good skin coverage and minimal morbidity, to make them eligible for early complementary treatments. We evaluated the efficacy and safety of a new format of thoracoepigastric flap with patients in the Semi-Fowler position during surgery. We hypothesized that this procedure would achieve proper closure of large lesions and ensure the survival of the flap. METHODS: All consecutive patients who underwent radical mastectomy between 2009 and 2014 and had chest wall reconstruction were evaluated. The main outcomes evaluated were the viability of the flap and effectiveness of the surgical closure. RESULTS: During the study period, we operated on 29 patients with locally advanced (90%) or recurrent tumor (10%), and one patient was operated on bilaterally (total of 30 flaps). Of the study sample, 23 patients (79%) were at stage III and 6 (21%), at stage IV. The dimensions of the resected areas varied from 20 x 15 cm to 13 x 9 cm (average 15.5 x 11.6 cm). The dimensions of the thoracoepigastric flaps varied from 25 x 12 to 18 x 8 cm (average 21.3 x 10.4 cm). There were only 2 cases of dehiscence (7%), which resolved without surgical intervention, and one case of hematoma, which was drained surgically. One patient died on the eleventh postoperative day. CONCLUSION: Thoracoepigastric flaps were effective and safe, did not require the use of other flaps or skin grafting, and adequately closed the donor areas in all cases. All patients, except the patient who died, were eligible for complementary treatment one month after surgery.

Mastoplastia redutora com implante submuscular para simetrização mamária em pacientes submetidas à mastectomia / Reduction mastoplasty with submuscular implants for breast symmetrization in patients undergoing mastectomy

INTRODUÇÃO: A reconstrução mamária com uso de expansores/implantes é uma das técnicas mais empregadas para tratamento das sequelas de mastectomia devido ao menor tempo cirúrgico e menor morbidade. No entanto, a manutenção da simetria com a mama contralateral a longo prazo continua a ser um grande desafio. É proposta, então, técnica de mastoplastia redutora com colocação de implante submuscular na mama contralateral de pacientes com reconstrução mamária. MÉTODOS: Foram incluídas 31 pacientes submetidas a esta técnica, cujas características principais são ressecção glandular associada à inclusão de prótese em plano subpeitoral total. Foram avaliadas as complicações e simetria de forma e volume obtida. RESULTADOS: Observou-se baixa incidência de complicações e revisões cirúrgicas, nenhum caso de perda do implante e bons resultados de simetria. CONCLUSÃO: A mastoplastia redutora com implante submuscular mostrou-se técnica segura, com bons resultados de simetria em pacientes mastectomizadas.

INTRODUCTION: Breast reconstruction with expanders/implants is one of the most common techniques used for the treatment of mastectomy-induced sequelae, due to the reduced surgical time and morbidity. However, the maintenance of long-term symmetrization in the contralateral breast remains a major challenge. The procedure of reduction mastoplasty has been developed, and is performed by positioning a submuscular implant in the contralateral breast of patients undergoing breast reconstruction. METHODS: A total of 31 patients were included in the study. Their primary characteristics were glandular resection, combined with implant insertion in the subpectoral plane. Complications, shape, symmetry, and volume were subsequently evaluated. RESULTS: A low incidence of complications and surgical revisions was observed, with no cases of implant loss. Good breast symmetry was achieved. CONCLUSION: Reduction mastoplasty with submuscular implants proved to be a safe procedure, and resulted in good breast symmetry in patients who underwent mastectomy.

Tradução para a língua portuguesa, adaptação cultural e validação do Breast Evaluation Questionnaire / Brazilian version of the breast evaluation questionnaire: cultural adaptation and validation

INTRODUÇÃO: Dados mensuráveis de resultados em cirurgia plástica são escassos. Nos últimos anos, instrumentos de medida de qualidade de vida vêm sendo utilizados em escala mundial. Não há instrumentos válidos e adaptados no Brasil para avaliar qualidade de vida especificamente para cirurgia das mamas. O objetivo deste estudo é traduzir para o português, adaptar culturalmente e validar o Breast Evaluation Questionnaire (BEQ 55) para uso no País. MÉTODO: Foram realizadas duas traduções e duas traduções reversas do instrumento, intercaladas por revisões de comitê multidisciplinar. A adaptação cultural foi feita com aplicação do questionário a grupos de 20 pacientes do ambulatório de cirurgia plástica, com modificações pertinentes para melhora do entendimento. Para testar a reprodutibilidade e a validade de construção, 20 pacientes foram entrevistados em duas ocasiões: na primeira, por entrevistadores diferentes, e na segunda (após 7 dias a 14 dias), por apenas um deles. Na primeira, foi aplicado também o Short-Form 36. RESULTADOS: Na adaptação cultural, foram modificadas todas as questões para facilitar o entendimento. Um novo grupo obteve boa compreensão de todas as questões. A consistência interna do instrumento variou de 0,931 a 0,936. O coeficiente de reprodutibilidade interobservador foi de 0,962 e o intraobservador, de 0,919. Apenas os domínios do SF-36 capacidade funcional, estado geral de saúde e aspectos emocionais tiveram correlação com o escore total do BEQ 55. CONCLUSÕES: O questionário foi traduzido e adaptado com sucesso, sendo a versão brasileira denominada Questionário de Avaliação das Mamas (BEQ-Brasil), e provou ser válido e reprodutível.

BACKGROUND: Measurable data on plastic surgery outcomes are scarce. In recent years, questionnaires to measure quality of life have been used globally. In Brazil, there are no questionnaires validated and adapted in the Brazilian population that specifically assess quality of life after breast surgery. The aim of this study was to translate the Breast Evaluation Questionnaire (BEQ 55) into Portuguese, and culturally adapt and validate the translation for use in Brazil. METHODS: Two translations, two revisions by a multidisciplinary group, and two back translations of the questionnaire were performed. Cultural adaptation was performed by applying the questionnaire to groups of 20 patients from the plastic surgery outpatient clinic. The questionnaire included relevant modifications for better understanding of the questions. To test the questionnaire's reproducibility and validity, 20 patients were interviewed on two separate occasions. On the first occasion, they were interviewed by different interviewers, and on the second occasion (after 7 days and after 14 days), by only one. In addition, the Short-Form 36 was applied during the first interview. RESULTS: During cultural adaptation, questions were modified to facilitate the patients' understanding. A new group was tested to confirm that items were understood. Internal consistency of the questionnaire ranged between 0.931 and 0.936. The interobserver reproducibility coefficient was 0.962, and the intraobserver reproducibility coefficient was 0.919. Only the domains of the SF-36 regarding functional capacity, general health status, and emotional aspects correlated with the total score of the BEQ 55. CONCLUSIONS: The BEQ 55 questionnaire was successfully translated and adapted. The Brazilian version was called "Questionário de Avaliação das Mamas (BEQ-Brasil)" and was demonstrated to be valid and reproducible.