Madelung's disease in a non-alcoholic Ethiopian male patient mistaken for obesity: a case report.

BACKGROUND: Madelung's disease (MD) is a rare disorder of fat storage characterized by the presence of diffuse, symmetrical deposition of subcutaneous fat around the neck, shoulder, arm, trunk and thigh. Although its cause is not fully understood, this benign condition is commonly presented among adult males with Mediterranean origin and history of alcohol abuse. Patients often presents with compression of vital structures, cosmetic disfigurement and associated psychosocial problems and systemic comorbidities. It is often under-recognized by physicians, possibly due to obliviousness of the condition and often misdiagnosed as obesity. CASE PRESENTATION: We present a 65-year-old non-alcoholic black Ethiopian man, presented with a slowly growing body fat in his trunk and proximal limbs associated by multiple joint and back pain which got worse recently. He denied any history of chronic alcohol use. On examination, huge, bilateral, non-tender, soft, globular masses in his torso, shoulder, arm and thigh with bilateral breast enlargement. On investigation his biochemical profile was normal except hyperuricemia (10.6 mg/dl). Imaging of the cervical and lumbar vertebrae showed excess subcutaneous fat depositions with degenerative disc disease. Biopsy from the mass revealed non-encapsulated lipoma and he was diagnosed with type II MD. We treated his pain with supportive therapy and discharged in stable condition. The patient deferred surgical treatment. CONCLUSIONS: Madelung's disease is often reported among white adult males with chronic alcoholism. However, our case reported a black man without the typical risk factor which was misdiagnosed as obesity. Hence, clinicians should be aware of MD and need to consider it in their differential diagnosis when encountered with a patient having progressive centripetal fat deposition with or without a history of alcoholism and systemic comorbidities. As early detection of this disorder helps to avoid diagnostic delays and prevent complications through timely interventions which will in turn improves patient quality of life.

Muscle fat content is strongly associated with NASH: A longitudinal study in patients with morbid obesity.

BACKGROUND & AIMS: Studies exploring the relationship between muscle fat content and non-alcoholic fatty liver disease (NAFLD) are scarce. Herein, we aimed to evaluate the association of muscle mass and fatty infiltration with biopsy-assessed NAFLD in patients with obesity. METHODS: At inclusion (n = 184) and 12 months after a dietary intervention (n = 15) or bariatric surgery (n = 24), we evaluated NAFLD by liver biopsy, and skeletal muscle mass index (SMI) by CT (CT-SMI) or bioelectrical impedance analysis (BIA-SMI). We developed an index to evaluate absolute fat content in muscle (skeletal muscle fat index [SMFI]) from CT-based psoas muscle density (SMFIPsoas). RESULTS: Muscle mass was higher in patients with NAFLD than in those without (CT-SMI 56.8 ± 9.9 vs. 47.4 ± 6.5 cm2/m2, p <0.0001). There was no association between sarcopenia and non-alcoholic steatohepatitis (NASH). SMFIPsoas was higher in NASH ≥F2 and early NASH F0-1 than in NAFL (78.5 ± 23.6 and 73.1 ± 15.6 vs. 61.2 ± 12.6, p <0.001). A 1-point change in the score for any of the individual cardinal NASH features (i.e. steatosis, inflammation or ballooning) was associated with an increase in SMFIPsoas (all p <0.05). The association between SMFIPsoas and NASH was highly significant even after adjustment for multiple confounders (all p <0.025). After intervention (n = 39), NASH improvement, defined by NAFLD activity score <3 or a 2-point score reduction, was achieved in more than 75% of patients (n = 25 or n = 27, respectively) that had pre-established NASH at inclusion (n = 32) and was associated with a significant decrease in SMFIPsoas (p <0.001). Strikingly, all patients who had ≥11% reduction in SMFIPsoas achieved NASH improvement (14/14, p <0.05). CONCLUSIONS: Muscle fat content, but not muscle mass, is strongly and independently associated with NASH. All individuals who achieved a ≥11% decrease in SMFIPsoas after intervention improved their NASH. These data indicate that muscle fatty infiltration could be a potential marker for (and perhaps a pathophysiological contributor to) NASH. LAY SUMMARY: The fat content in skeletal muscles is highly reflective of the severity of non-alcoholic fatty liver disease (NAFLD) in patients with morbid obesity. In particular, muscle fat content is strongly associated with non-alcoholic steatohepatitis (NASH) and decreases upon NASH improvement. These data indicate that muscle fatty infiltration could be a marker and possible pathophysiological contributor to NASH.

Clinical outcome after lipectomy in the management of patients with human immunodeficiency virus-associated dorsocervical fat accumulation: An observational cohort study.

Lipo-accumulation of the dorsocervical fat pad ("buffalo hump") is a complication observed in people living with human immunodeficiency virus (HIV). We described the clinical outcome of people living with HIV with "buffalo hump" treated by excisional lipectomy.From April 2013 to March 2018, medical records of people living with HIV, who received care in our hospital have been evaluated. Among them, patients with dorsocervical fat accumulation treated by excisional lipectomy have been retrospectively assessed.Nine patients with "buffalo hump" among 2886 people living with HIV (3.1‰, 9/2886) were included. Eight were women with a mean age of 47.9 ±â€Š8.0 years old (range, 36-60). Most of them have been infected by blood transfusion (77%, 7/9) and the mean duration of HIV infection was 14.1 ±â€Š5.5 years (range, 6-22). The mean duration for antiretroviral therapy was 8.8 ±â€Š2.1 years (range, 6-11). The mean pre-ART CD4+ T cell count was 91.3 ±â€Š76.5 cells/µL (range, 4-233) and 477.4 ±â€Š271.8 cells/µL (range, 114-926) at the time of surgery. All 9 patients underwent excisional lipectomy of their hypertrophied dorsocervical fat pad. The mean size of the excised specimens was 14 × 11 × 6 cm. The median follow-up time was 24 months (range, 2-60), all 9 patients reported satisfaction with their results, with no recurrence has been observed.Corrective surgery used to treat localized fat accumulations in people living with HIV with "buffalo hump" showed a favorable effect and can therefore be considered when necessary. Whereas drugs such as integrase inhibitors may avoid lipo-accumulation related syndrome and should be given to people living with HIV in China.

Lipomeningocele associated with diplomyelia in a dog.

A 2-year-old male neutered mixed breed dog with a body weight of 30 kg was presented for evaluation of a soft subcutaneous mass on the dorsal midline at the level of the caudal thoracic spine. A further clinical sign was intermittent pain on palpation of the area of the subcutaneous mass. The owner also described a prolonged phase of urination with repeated interruption and re-initiation of voiding. The findings of the neurological examination were consistent with a lesion localization between the 3rd thoracic and 3rd lumbar spinal cord segments. Magnetic resonance imaging revealed a spina bifida with a lipomeningocele and diplomyelia (split cord malformation type I) at the level of thoracic vertebra 11 and 12 and secondary syringomyelia above the aforementioned defects in the caudal thoracic spinal cord. Surgical resection of the lipomeningocele via a hemilaminectomy was performed. After initial deterioration of the neurological status postsurgery with paraplegia and absent deep pain sensation the dog improved within 2 weeks to non-ambulatory paraparesis with voluntary urination. Six weeks postoperatively the dog was ambulatory, according to the owner. Two years after surgery the owner recorded that the dog showed a normal gait, a normal urination and no pain. Histopathological diagnosis of the biopsied material revealed a lipomeningocele which confirmed the radiological diagnosis.

Incorporating Refractory Period in Mechanical Stimulation Mitigates Obesity-Induced Adipose Tissue Dysfunction in Adult Mice.

OBJECTIVE: The aim of this study was to determine whether inclusion of a refractory period between bouts of low-magnitude mechanical stimulation (LMMS) can curb obesity-induced adipose tissue dysfunction and sequelae in adult mice. METHODS: A diet-induced obesity model that included a diet with 45% of kilocalories from fat was employed with intention to treat. C57BL/6J mice were weight matched into four groups: low-fat diet (LFD, n = 8), high-fat diet (HFD, n = 8), HFD with one bout of 30-minute LMMS (HFDv, n = 9), and HFD with two bouts of 15-minute LMMS with a 5-hour separation (refractory period, RHFDv, n = 9). Two weeks of diet was followed by 6 weeks of diet plus LMMS. RESULTS: HFD and HFDv mice continued gaining body weight and visceral adiposity throughout the experiment, which was mitigated in RHFDv mice. Compared with LFD mice, HFD and HFDv mice had increased rates of adipocyte hypertrophy, increased immune cell infiltration (B cells, T cells, and macrophages) into adipose tissue, increased adipose tissue inflammation (tumor necrosis factor alpha gene expression), and a decreased proportion of mesenchymal stem cells in adipose tissue, all of which were rescued in RHFDv mice. Glucose intolerance and insulin resistance were elevated in HFD and HFDv mice, but not in RHFDv mice, as compared with LFD mice. CONCLUSIONS: Incorporating a 5-hour refractory period between bouts of LMMS attenuates obesity-induced adipose tissue dysfunction and improves glucose metabolism.

Becker Naevus Syndrome of the Lower Body: One Case and Review of the Literature.

Becker naevus syndrome is a rare epidermal naevus syndrome defined by the co-occurrence of a Becker naevus with various cutaneous, muscular and skeletal anomalies. In the majority of cases, abnormalities exclusively consist of ipsilateral hypoplasia of the breast, areola and/or nipple in addition to the naevus. Here, we report on a 42-year-old woman with an extensive Becker naevus reaching from the left buttock to the left calf verified on histological examination. In addition, there was marked hypoplasia of the fatty tissue of the left thigh confirmed by magnetic resonance imaging in contrast to hyperplasia of the fatty tissue of the left gluteal area. Underlying muscles and bones were not affected. There was no difference in leg lengths. In addition, we review and discuss the features of Becker naevus syndrome with emphasis on 10 reported cases with involvement of the lower body.

What is your diagnosis?

CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.

What is your diagnosis?

Abstract: CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.

Echocardiographic epicardial adipose tissue measurements provide information about cardiovascular risk in hemodialysis patients.

Epicardial adipose tissue (EAT) is a cardiovascular risk predictor in general population. However, its value has not been well validated in maintainance hemodialysis (MHD) patients. We aimed to assess associations of EAT with cardiovascular risk predictors in nondiabetic MHD patients. In this cross-sectional study, we measured EAT thickness by transthoracic echocardiography in 50 MHD patients (45.8 ± 14.6 years of age, 37 male). Antropometric measurements, bioimpedance analysis, left ventricular (LV) mass, carotis intima media thickness, blood tests, homeostasis model assessment for insulin resistance (HOMA-IR) and hemodialysis dose by single-pool urea clearence index (spKt/V) were determined. The mean EAT thickness was 3.28 ± 1.04 mm. There were significant associations of EAT with body mass index (ß = 0.590, P < 0.001), waist circumference (ß = 0.572, P < 0.001), body fat mass (ß = 0.562, P < 0.001), percentage of body fat mass (ß = 0.408, P = 0.003), percentage of lean tissue mass (ß = -0.421, P = 0.002), LV mass (ß = 0.426, P = 0.002), carotis intima media thickness (ß = 0.289, P = 0.042), triglyceride/high-density lipoprotein cholesterol ratio (ß = 0.529, P < 0.001), 1/HOMA-IR (ß = -0.386, P = 0.006), and spKt/V (ß = -0.311, P = 0.028). No association was exhibited with visfatin C, high-sensitivity C-reactive protein, interleukin-6, and tumor necrosis factor-alpha (for all, P > 0.05). Body mass index, waist circumference, body fat mass, percentage of lean tissue mass, LV mass, triglyceride/high-density lipoprotein cholesterol ratio, HOMA-IR, and spKt/V appeared as independent predictors of EAT. EAT was significantly associated with body fat measures, cardiovascular risk predictors, and dialysis dose in MHD patients.

Myocardial fat overgrowth in Proteus syndrome.

Proteus syndrome (PS) is a rare, mosaic disorder with asymmetric and distorting overgrowth of the skeletal system, skin, and adipose tissues. Cardiac abnormalities are rare in this syndrome and only two prior cases have been reported. Many patients with PS followed at our institution underwent transthoracic echocardiograms for preoperative evaluation or as work-up for associated pulmonary disease. Some were noted to have prominent, focal echodense areas in the myocardium. We further investigated cardiac findings in a cohort of children and adult patients with PS. Patients with abnormal echocardiograms were referred for cardiac magnetic resonance imaging, Holter monitoring, and exercise treadmill testing. Twenty children and adults with PS, age 24 months to 50 years old, underwent transthoracic echocardiograms. Seven patients (35%) had focal bright echodense areas within the myocardium suggesting fatty infiltration. The majority of patients had significant involvement of the interventricular septum. The cardiac characteristics of all patients with fatty infiltration on transthoracic echocardiograms were compared to Proteus patients without these findings. There were no significant differences in chamber sizes, mass, systolic or diastolic function. No increased risk of conduction defects or arrhythmias was found. This study shows that abnormal fat overgrowth is a common finding in the myocardium in patients with Proteus syndrome; however, it is not associated with functional derangements or arrhythmias. Further evaluation of a larger number of Proteus patients is needed in order to determine the frequency and prognosis of cardiac involvement. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.

Computer-assisted midface reconstruction in Treacher Collins syndrome part 2: soft tissue reconstruction.

INTRODUCTION: Treacher Collins syndrome (TCS) midfacial involvement associate a skeletal hypoplasia centred on the zygoma to a hypoplasia of all surrounding soft tissues layers and an inferolateral lower lid pseudocoloboma. TCS soft tissue hypoplasia, which has not been well studied, continues to bring challenges in both the indication of surgical treatment and the prediction of their results. MATERIAL AND METHOD: From a standard magnetic resonance imaging (MRI) acquisition, we studied qualitatively and quantitatively the prezygomatic fat compartments and the buccal fat pad of two individuals with TCS whose age were 10 and 14 years. In parallel, we studied 20 controls at the same age to obtain a morphometric database of reference and compare our results. TCS soft tissue involvement was correlated to the results of our prior skeletal involvement study. RESULTS: The midfacial fat compartments in TCS are severely hypoplastic, especially in the superficial and lateral compartments of the face (all P's < 0.001). No significant correlation existed between the soft tissue and the skeletal involvement. CONCLUSIONS: To our knowledge, this is the first published study of TCS midfacial fat compartments. Their hypoplasia is an important part of the syndrome's facial deformity. The knowledge of their anatomy, organization and volumetric variation is essential. Their re-establishment is key in the early treatment phases of this syndrome. Using the preoperative data, the morphometric database of reference, and surgical simulation, an appropriate surgical technique, going from an autologous fat graft to a free flap, can then be chose.

Novel application of human morphomics to quantify temporal soft tissues in Pierre Robin and Treacher Collins.

INTRODUCTION: Pierre Robin sequence (PR) and Treacher Collins syndrome (TC) are congenital disorders associated with multiple craniofacial abnormalities. The mandibular malformations linked with these maladies are closely associated with the form and function of the temporalis muscle. Despite these associations, a paucity of research has been directed at quantifying how these malformations affect the tissues of the temporal region. In this paper, we seek to quantify differences in the temporalis muscle and the temporal fat pad using a novel CT-derived analytic program to examine craniofacial morphomic indices within these patient groups in comparison to normal age-matched controls. We posit that the temporalis muscle and temporal fat pad, like other derivatives of the first branchial arch, are hypoplastic in patients with TC and PR compared to age-matched controls. METHODS: High-throughput image analysis was used to reconstruct the 3-dimensional (3D) anatomy and quantify morphomic measures of the temporalis muscle and temporal fat pad in children with PR, TC, and age-matched controls. These steps were completed in a semi-automated method using algorithms programmed in MATLAB v13.0. The 3D reconstructions were analyzed in 3 children with PR (6 temporal regions), 3 children with TC (6 temporal regions), and a control group of 19 children (38 temporal regions). We also quantified the same measurements in a localized "core" sample in the area of greatest thickness, providing a more consistent sample of the tissue position. Relationships between the temporal muscle and fat pad values and craniofacial abnormality type were assessed using Wilcoxon nonparametric test using exact distribution, with a P value of less than 0.05 being deemed significant. RESULTS: The mean age of our patients was 6.0 years in PR and 4.5 years in TC cohorts. We were able to establish an automated methodology to quantify the temporalis muscle and temporal fat pad based on CT characteristics. Localized temporalis volume and localized temporalis area were significantly smaller in children with PR than in the control group. Total temporalis fat volume and localized temporalis area were significantly less in children with TC than in the control group. When compared to each other, the PR group had small morphomic values compared to TC group. CONCLUSIONS: There are significant morphomic differences in the temporalis muscle and the temporal fat pad in children with either PR or TC when compared to age-matched control group which can be measured from pre-existing CT scans. Specifically, both of these test groups show decreases in the morphomic measures of the temporalis region. The quantification of these changes corroborates and objectifies the clinical findings associated with these congenital deformities while simultaneously allowing for preoperative planning. Furthermore, this finding confirms that the hypoplasia seen in these patient populations is not only hypoplasia of the mandible but also of the surrounding functional matrix, which includes the temporalis muscle and temporal fat pad.

Lipomatose simétrica múltipla: relato de dois casos / Multiple symmetric lipomatosis: report of two cases

Multiple symmetric lipomatosis is an unusual disease of unknown etiology. It is characterized by symmerical accumulation of fat tissue deposits in neck, face, trunk and proximal limbs. It is more common in mole adult subjects with a history of alcohol intake. Paliative surgery is the main treatment and it can be performed by conventional open excision or liposuction. Recurrence is common. The objetive of this article is to report two cases of multiple symmetric lipomatosis treated by liposuction in Regional Hospital of Asa Norte, in Brasilia - Federal District...

A lipomatose simétrica múltipla é uma doença incomum, de etiologia desconhecida, caracterizada pelo acúmulo simétrico de depósitos de tecido adiposo em face, pescôço, tronco e região proximal dos membros. É mais frequente em indivíduos adultos do sexo masculino, geralmente com história de etilismo. O tratamento é cirúrgico, com ressecção paliativa por via aberta ou por lipoaspiração. A recidiva é comum. O presente artigo tem por objetivo relatar dois casos de lipomatose simétrica múltipla, tratados por lipoaspiração no Hospital Regional da Asa Norte, em Brasília-DF...

Coexistence of a pseudolesion and a true lesion in the same location: a rare misleading imaging finding.

Congenital cholesteatoma and asymmetric fatty marrow are both common masses that appear as imaging "lesions" in the petrous apex, but their treatment modalities are very different. Accurate preoperative recognition by computed tomography and magnetic resonance imaging is, therefore, important for planning appropriate management strategies. We report a case with coexisting congenital cholesteatoma and asymmetric fatty marrow in the same petrous bone. The 2 lesions were indistinguishable on high-resolution computed tomographic images and were only identified on fat-suppressed magnetic resonance imaging sequences. This is the first report of these 2 lesions coexisting, leading to a rare misleading imaging finding.

Epiploic appendagitis in a 27-year-old man.

BACKGROUND: Epiploic appendagitis is an ischemic infarction of an epiploic appendage caused by torsion or spontaneous thrombosis of the central draining vein. Epiploic appendagitis is self-limited without surgery, and it is imperative for clinicians to be familiar with this entity. CASE REPORT: A healthy 27-year-old man was admitted due to acute right lower quadrant abdominal pain. Physical examination showed focal abdominal tenderness with slight rebound tenderness. Laboratory tests showed leukocytosis and an increased serum C-reactive protein level. Computed tomography (CT) showed a fatty ovoid pericolonic mass measuring 12 mm in diameter, with a circumferential hyperdense ring that abutted on the ascending colon and was surrounded by ill-defined fat stranding with a hyperdense ring. These findings were diagnostic of primary epiploic appendagitis. The patient was given high-dose antibiotics due to the secondary inflammation involving the parietal peritoneum. CONCLUSIONS: Epiploic appendagitis presents with an abrupt onset of focal abdominal pain and tenderness without significant guarding or rigidity; it is an uncommon and difficult diagnosis. With awareness of this condition, however, evaluation by CT can provide an accurate diagnosis of epiploic appendagitis, distinguishing it from conditions with clinically overlapping manifestations.

Gordura epicárdica medida ao ecocardiograma correlaciona-se com ateromatose carotídea / Epicardial fat measured by echocardiography correlates to carotid atheromatosis

Fundamento: A presença de placas carotídeas é um marcador de doença cardiovascular já estabelecido. A medida da gordura epicárdica é um novo método de avaliação da gordura visceral. A relação entre o diâmetro da gordura epicárdica com o risco cardiovascular está sendo investigada, Objetivo: Avaliar a correlação entre a espessura da gordura epicárdica, medida pelo ecocardiograma, e ateromatose das artérias carótidas, Métodos: Foram avaliados 311 pacientes consecutivos, encaminhados para a realização de ecocardiograma ou ultrassonografia carotídea, com indicações clínicas comuns. A espessura da gordura epicárdica, na parede livre do ventrículo direito, foi avaliada com o ecocardiograma e o seu diâmetro, correlacionado com a presença ou não de ateromatose das artérias carótidas. Resultados: Os pacientes (45 por cento homens) tinham idade média de 56 +- 17 anos. A espessura média de gordura epicárdica foi de 5,4 +- 2,6mm. A espessura da gordura epicárdica foi, significativamente, maior nos pacientes com ateromatose das artérias carótidas (7,0 +- 2,2, n=141 vs. 4,7 +-2,5,n=166,p<0,001). A espessura da gordura epicárdica foi maior nos pacientes com hipertensão, diabetes mellitus, doença coronariana ou dislipidemia. Após regressão múltipla...

A case report of bilateral cervical chondrocutaneous remnants with review of the literature.

Cervical chondrocutaneous remnants are very rare entities. They are thought to originate either from the second branchial arch or from auricular tissues. To date, less than 40 cases have been reported in the medical literature, and only 7 cases were bilateral. We report the case of a 1-month-old girl presenting with bilateral neck lesions since birth, with no other anomalies. Complete surgical excision was performed, the pathology of which confirmed the diagnosis of chondrocutaneous remnants. Follow-up after 9 months showed no clinical evidence of complications or recurrence.

Efeitos do treinamento físico na obesidade / Effects of exercise training on obesity

A obesidade é uma doença multifatorial, caracterizada pelo acúmulo excessivo de tecido adiposo corporal. Alterações fisiopatológicas associadas e/ou decorrentes ao aumento do tecido adiposo corporal, como aumento nas propriedades inflamatórias, disfunção endotelial e alterações do sistema nervoso autossômico promovem a instalação adicional de fatores de risco cardiovascular. De fato, esse cenário representa impacto negativo sobre a saúde cardiovascular e, consequentemente, na expectativa de vida. Por outro lado, a prática regular de exercício físico tem sido prescrita como medida não farmacológica para prevenção e tratamento da obesidade. Assim, o objetivo desse artigo foi realizar uma revião de literatura sobre os defeitos do treinamento físico nas propriedades inflamatórias, função endotelial e controle autossômico de pessoas obesas. O treinamento físico não só reduz o peso corporal, como também diminui as concentrações plasmáticas de propriedades pré-inflamatórias, aumenta os níveis de adiponectina, mehora a função endotelial, diminui a hiperatividade simpática e aumenta o tônus parassimpáticos. Porém, para que todos esses efeitos sejam obtidos, o treinamento físico deve ser realizado de forma adequada e com orientação e prescrição de especialistas.