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ABSTRACT Objective: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T). Case description: A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips, generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness and bone reabsorption in the terminal phalanges. In dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed. Radiology exams performed showed bilateral absence of the mandibular condyles, clavicle resorption with local amorphous bone mass confluence with the scapulae, shoulder joints with subluxation and severe bone dysplasia, hip dysplasia, osteopenia and subcutaneous calcifications. Comments: MADA is a rare autosomal recessive disease caused by mutations in LMNA gene. It is characterized by craniofacial deformities, skeletal anomalies, skin alterations, lipodystrophy in certain regions of the body and premature ageing. Typical MADA is caused by the p.R527H mutation in the LMNA gene. However, molecular analysis performed from oral epithelial cells obtained from the patient showed the rare mutation c.1579C>T, p. R527C in the exon 9 of LMNA. This is the sixth family identified with this mutation described in the literature.
RESUMO Objetivo: Relatar o caso de uma jovem que apresentava um fenótipo grave de displasia mandibuloacral tipo A (MADA) caracterizado por alterações osteolíticas proeminentes e defeitos ectodérmicos, associados a uma rara mutação homozigótica missense no gene LMNA (c.1579C>T). Descrição do caso: Uma menina de seis anos foi avaliada durante hospitalização apresentando os seguintes sinais dismórficos: alopecia subtotal, fácies dismórfica com olhos proeminentes, micrognatia e retrognatia acentuada, nariz pequeno e adunco, dentes apinhados e lábios finos, lipodistrofia generalizada, ombros estreitos e inclinados, rigidez articular e reabsorção óssea nas falanges terminais. Ao exame dermatológico, observou-se pele atrófica, perda da elasticidade cutânea, hiperceratose, calcinose dérmica e manchas hiperpigmentadas e hipocrômicas. Exames radiológicos realizados mostraram ausência de côndilos mandibulares bilaterais, reabsorção da clavícula com massa óssea amorfa local confluindo com as escápulas, articulações do ombro com subluxação e displasia óssea severa, com displasia coxofemoral, osteopenia e calcificações subcutâneas. Comentários: MADA é uma doença autossômica recessiva rara causada por mutações no gene LMNA. Caracteriza-se por deformidades craniofaciais, anomalias esqueléticas, alterações cutâneas, lipodistrofia em determinadas regiões do corpo e envelhecimento precoce. MADA típica é causada pela mutação p.R527H no gene LMNA. No entanto, a análise molecular realizada com células epiteliais orais obtidas da paciente mostrou a mutação rara c.1579C>T, p. R527C no exon 9 do gene LMNA. Esta é a sexta família identificada com essa mutação descrita na literatura.
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Resumo Fundamento: A cardiomiopatia associada à lipodistrofia parcial (LP) ainda não foi bem descrita. Objetivo: Caracterizar a morfologia e a função cardíaca na LP. Métodos: Pacientes com LP e controles foram avaliados prospectivamente por ecocardiografia transtorácica e ecocardiografia por speckle-tracking (Strain Longitudinal Global, SLG). A relação entre as variáveis ecocardiográficas e o diagnóstico de LP foi testada com modelos de regressão, considerando o efeito da pressão arterial sistólica (PAS). Adotou-se um nível de significância de 5%. Resultados: Vinte e nove pacientes com LP foram comparados com 17 controles. Eles não se diferiram quanto à idade (p=0,94), sexo ou índice de massa corporal (p= 0,05). Os pacientes com LP apresentaram PAS estatisticamente mais alta (p=0,02) em comparação aos controles. Ainda, os pacientes com LP apresentaram maior dimensão do átrio (37,3 ± 4,4 vs. 32,1 ± 4,3 mm, p= 0,001) e maior volume atrial (30,2 ± 7,2 vs. 24,9 ± 9,0 mL/m2, p=0,02), massa do Ventrículo Esquerdo (VE) (79,3 ± 17,4 vs. 67,1 ± 19,4; p=0,02), e parâmetros sistólicos reduzidos do VE (E' lateral, p= 0,001) (E' septal, p= 0,001), (razão E/E', p= 0,02). A fração de ejeção do VE (64,7 ± 4,6 vs. 62,2 ± 4,4 %, p = 0,08) e o SLG não foram estatisticamente diferentes entre os grupos (-17,1±2,7 vs-18.0 ± 2,0%, p= 0,25). Observou-se uma reação positiva do átrio esquerdo (β 5,6; p<0,001), espessura da parede posterior (β 1,3; p=0,011), E' lateral (β -3,5; p=0,002) e E' septal (β -3,2; p<0,001) com o diagnóstico de LP, mesmo após o ajuste para a PAS. Conclusão: Os pacientes com LP apresentam hipertrofia do VE, aumento do átrio esquerdo, e disfunção diastólica do VE apesar de fração de ejeção do VE e SLG preservados. Os parâmetros ecocardiográficos estão relacionados com o diagnóstico de LP, independentemente da PAS.
Abstract Background: Cardiomyopathy associated with partial lipodystrophy (PL) has not been well described yet. Objective: To characterize cardiac morphology and function in PL. Methods: Patients with familial PL and controls were prospectively assessed by transthoracic echocardiography and with speckle-tracking echocardiography (global longitudinal strain, GLS). The relationship between echocardiographic variables and PL diagnosis was tested with regression models, considering the effect of systolic blood pressure (SBP). Significance level of 5% was adopted. Results: Twenty-nine patients with PL were compared to 17 controls. They did not differ in age (p=0.94), gender or body mass index (p= 0.05). Patients with PL had statistically higher SBP (p=0.02) than controls. Also, PL patients had higher left atrial dimension (37.3 ± 4.4 vs. 32.1 ± 4.3 mm, p= 0.001) and left atrial (30.2 ± 7.2 vs. 24.9 ± 9.0 mL/m2,p=0.02), left ventricular (LV) mass (79.3 ± 17.4 vs. 67.1 ± 19.4, p=0.02), and reduced diastolic LV parameters (E' lateral, p= 0.001) (E' septal, p= 0.001), (E/E' ratio, p= 0.02). LV ejection fraction (64.7 ± 4.6 vs. 62.2 ± 4.4 %, p= 0.08) and GLS were not statistically different between groups (-17.1 ± 2.7 vs. -18.0 ± 2.0 %, p= 0.25). There was a positive relationship of left atrium (β 5.6, p<0.001), posterior wall thickness, (β 1.3, p=0.011), E' lateral (β -3.5, p=0.002) and E' septal (β -3.2, p<0.001) with PL diagnosis, even after adjusted for SBP. Conclusion: LP patients have LV hypertrophy, left atrial enlargement, and LV diastolic dysfunction although preserved LVEF and GLS. Echocardiographic parameters are related to PL diagnosis independent of SBP.
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Introdução: O tratamento cirúrgico da obesidade mórbida implicou na maior demanda por procedimentos reparadores das sequelas causadas pela perda ponderal. Braquioplastia trata o excesso de pele e lipodistrofia localizada nas regiões dos braços e axilas. Os procedimentos para correção de deformidade braquial são incompletos e resultam em cicatrizes insatisfatórias. Sendo assim, propomos uma classificação objetiva que sugere tratamento cirúrgico com vistas à obtenção de um contorno braquial adequado. O objetivo é propor classificação para avaliar lipodistrofia e flacidez cutânea na região dos braços e axilas no paciente ex-obeso e sugerir tratamento cirúrgico adequado. Método: Revisão da literatura e proposta de classificação que sugere opção de tratamento cirúrgico a partir do exame físico pré-operatório. Tal classificação é objetiva e abrangente, facilitando a padronização entre os cirurgiões plásticos. Resultados: A classificação LC se divide em 7 tipos. Tipo L - lipodistrofia sem flacidez; Tipo C1 - flacidez proximal sem lipodistrofia; Tipo C2 - flacidez até terço médio sem lipodistrofia; Tipo C3 - flacidez até terço distal sem lipodistrofia; Tipo LC1 - flacidez em terço proximal com lipodistrofia associada; Tipo LC2 - flacidez até terço médio com lipodistrofia; Tipo LC3 - flacidez até terço distal com lipodistrofia. Baseado na classificação, as denominadas "L" se beneficiam de lipoaspiração enquanto as denominadas "C" sugerem dermolipectomia cirúrgica. Conclusão: A classificação alinha deformidades preexistentes com a respectiva modalidade cirúrgica para correção de cada caso, portanto, a existência de uma classificação objetiva e prática facilita a comunicação e orienta o melhor tratamento, proporcionando ao paciente um contorno braquial adequado.
Introduction: Surgical treatment of morbid obesity has resulted in a greater demand for repairing procedures for sequelae caused by weight loss. Brachioplasty treats excess skin and localized lipodystrophy in the arm and armpit regions. Procedures for brachial deformity correction are incomplete and result in unsatisfactory scars. Therefore, we propose an objective classification that suggests surgical treatment intending to obtain an adequate brachial contour. The aim is to propose a classification to assess lipodystrophy and skin flaccidity in the arms and armpits in ex-obese patients and suggest adequate surgical treatment. Method: Literature review and classification proposal that suggests a surgical treatment option based on the preoperative physical examination. This classification is objective and comprehensive, facilitating standardization among plastic surgeons. Results: The LC classification is divided into 7 types. Type L - lipodystrophy without sagging; Type C1 - proximal flaccidity without lipodystrophy; Type C2 - sagging up to the middle third without lipodystrophy; Type C3 - flaccidity up to the distal third without lipodystrophy; Type LC1 - sagging in the proximal third with associated lipodystrophy; Type LC2 - sagging up to the middle third with lipodystrophy; Type LC3 - sagging up to the distal third with lipodystrophy. Based on the classification, those labeled "L" benefit from liposuction, while those labeled "C" suggest surgical dermolipectomy. Conclusion: The classification aligns preexisting deformities with the respective surgical modality for correction in each case; therefore, an objective and practical classification facilitates communication and guides the best treatment, providing the patient with an adequate brachial contour.
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RESUMEN Los artistas moches (50 y 850 años d. C.) son unos de los mayores representantes plásticos en los andes centrales durante la época prehispánica, dentro de este escenario fue posible el análisis de una pieza de cerámica registrada en el sitio arqueológico Huaca de la Luna, ubicada en Trujillo. La vasija corresponde a dos individuos con características morfológicas que permite asociarlos con el padecimiento de lipodistrofia congénita generalizada tipo 2. Considerando la zona geográfica, los rasgos físicos y los casos actuales de esta enfermedad nos permite indicar que en la sociedad Mochica probablemente existieron personas con lipodistrofia congénita generalizada.
ABSTRACT The Moche artist are among the most outstanding plastic representatives in the central Andes during the pre-Hispanic era, within this scenario, we could analyze a sculptural ceramic piece (code C-1335) recorded in the Huaca de la Luna archaeological site in Trujillo, Perú. The vessel corresponds to two individuals with morphological characteristics that allow them to be associated with type 2 congenital generalized lipodystrophy. Considering the geographical, the physical features, and the current cases of this disease, allow us to indicate that people with generalized congenital lipodystrophy probably existed in Mochica society during pre-Hispanic times.
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Introduction: Lipodystrophy is an important complication of HIV and has different clinical manifestations, such as lipoatrophy of the face, buttocks, and limbs and accumulation of fat in the abdominal and cervical regions. Lipodystrophy has aesthetic and psychosocial consequences, stigmatizing and affecting patients' quality of life. The objective is to evaluate the epidemiology and treatments performed in patients treated at the HIV-related Lipodystrophy Outpatient Clinic at Hospital das Clínicas da Faculdade de Medicina de Botucatu. Method: The study was conducted retrospectively, with port analysis of patients treated between June 2012 and December 2019, at Hospital das Clínicas da Faculdade de Medicina de Botucatu, in Botucatu, SP, Brazil. Results: The medical records of 153 individuals were analyzed, 79 male and 74 female patients. The mean age was 45.6 years. The referrals came from 48 cities in four states. Caucasian patients accounted for 74.5% of the consultations. The complaint of facial lipodystrophy was reported by 52.9% of the patients. The most common invasive procedure was facial filling with polymethylmethacrylate (PMMA) in 62 patients. Gluteal implants were the most common surgery on six occasions. Conclusion: The data found show a higher proportion of female patients with complaints of lipodystrophy when compared to general data of patients with HIV. The white race was predominant, and the main complaint of lipodystrophy was facial atrophy. Facial filling with PMMA was the most common procedure.
Introdução: A lipodistrofia é uma importante complicação do HIV e apresenta diferentes manifestações clínicas, como lipoatrofia de face, glúteos e membros, e acúmulo de gordura em região abdominal e cervical. A lipodistrofia apresenta consequências estéticas e psicossociais, que são estigmatizantes e afetam a qualidade de vida dos pacientes. O objetivo é avaliar a epidemiologia e os tratamentos realizados nos pacientes atendidos no Ambulatório de Lipodistrofia relacionada ao HIV do Hospital das Clínicas da Faculdade de Medicina de Botucatu. Método: O estudo foi realizado de maneira retrospectiva, com análise de portuário dos pacientes atendidos entre junho de 2012 e dezembro de 2019, no Hospital das Clínicas da Faculdade de Medicina de Botucatu, em Botucatu, SP, Brasil. Resultados: Os prontuários de 153 indivíduos foram analisados, sendo 79 pacientes do sexo masculino e 74 do sexo feminino. A média de idade foi 45,6 anos. Os encaminhamentos tiveram origem de 48 cidades, de quatro estados. Pacientes da raça branca totalizaram 74,5% dos atendimentos. A queixa de lipodistrofia de face foi referida por 52,9% dos pacientes. O procedimento invasivo mais realizado foi o preenchimento facial com polimetilmetacrilato (PMMA), em 62 pacientes. A inclusão de implantes glúteos foi a cirurgia mais realizada, em seis ocasiões. Conclusão: Os dados encontrados mostram maior proporção de pacientes do sexo feminino com queixa de lipodistrofia, quando comparados a dados gerais de pacientes com HIV. A raça branca foi predominante e a principal queixa de lipodistrofia foi a atrofia facial. O preenchimento facial com PMMA foi o procedimento mais realizado
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Objective To analyze the clinical characteristics and genotype of a patient with congenital systemic lip-odystrophy(CGL)type 1 associated with exudative xanthoma caused by AGPAT2 gene mutation,and to provide ev-idence for clinical and genetic diagnosis of the disease.Methods Clinical data of the patient such as medical histo-ry,physical examination and laboratory examination were collected.Peripheral venous blood was collected for whole exome sequencing analysis and Sanger sequencing verification,and treatment was provided to patients according to the changes of condition.Results The clinical manifestations of the patient were subcutaneous fat reduction,fatty liver,spleen enlargement,kidney enlargement,high blood sugar and lipids,severe insulin resistance,scattered yellow rash on limbs,which was confirmed as xanthoma.The results of whole exon sequencing showed that the AGPAT2 gene of the patient had a heterozygous nonsense mutation of c.202C>T:p.R68?and c.646A>T:p.K216?,and the former was the pathogenic mutation site.Follow-up therapy covers improvement of lifestyle,low-fat diet and regular exercise.The rashes subsided after active lipid-lowering therapy.Conclusions Apart from typical lipody-strophy,the patient was accompanied by exanthemous xanthoma.No CGL1 patient with exanthemous xanthoma has been reported in the domestic literature database up to now,and the genetic test results showed that there was a c.202C>T heterozygous mutation of AGPAT2 gene.This gene site has not been reported in the literature,and its functional verification needs to be further studied.
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To analyze the clinical features and genetic variants of a child with type 4 familial partial lipodystrophy (FPLD4) and the initial manifestation of diabetes.The male patient with the age of 13 years and 5 months, and the diabetes course was about 3 years, the patient was admitted to Children′s Hospital of Soochow University on November 10, 2021(4 th hospitalization at the hospital), in the course of diabetes, the children repeatedly suffered from diabetes ketoacidosis, and lipid metabolism complications gradually emerged.The gene sequencing showed that the proband and his mother carried dual gene mutations of PLIN1 c. 1325delG(p.G442Afs*99) and SPINK1 c. 194+ 2T>C(p.? ). The PLIN1 gene was the causal gene of FPLD4.The mutations of c. 1325delG in the PLIN1 gene had not been previously reported.Based on the clinical phenotype, family history and genetic testing findings, the patient was diagnosed as FPLD4.In addition, the mutation of SPINK1 c. 194+ 2T>C(p.? ) might increase the risk of chronic pancreatitis.This case report enriched the clinical characteristics and genotype data of FPLD4.Gene sequencing assisted the accurate diagnosis of the type of diabetes.The effects of dual gene mutations on disease progression should be concerned, which were of great significance to develop treatment regimen and disease management.
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ABSTRACT Objective: The objective of the current study was to estimate energy expenditure and compare it with the usual food consumption of PLWH, and to determine whether duration of high-potency antiretroviral therapy (HAART) influenced nutritional intake and adequacy. Materials and methods: Anthropometric measurements and bioelectrical impedance analysis (BIA) provided data for estimating resting energy expenditure (REE) using Melchior's equations. Dietary Reference Intakes (DRIs) and 24-Hour Recall were used to verify if reported food intake aligned with energy, macro and micronutrient recommendations. Results: Sixty one patients with a mean age of 52 ± 9.4 years and who had a high frequency of diabetes mellitus (24.5%), hypertension (54%), and dyslipidemia (90.1%) were evaluated. Estimated REE of female and male patients with less than 10 years of HAART was 1791 (1717.5; 1887.2) and 1941 (1808; 2335.6), and their estimated energy intake was 900.5 (847;1221.9) and 2095.4 (1297.5; 2496.4), respectively. The estimated REE for female and male patients with more than 10 years of HAART was 1796.20 (1598.9;1820.7) and 2105 (1913.4; 2308), and their estimated energy intake was 1566 (1353.1; 1764.3) and 1999.7 (1706.5; 2508.1), respectively. Being on HAART for more than 10 years was associated with increased energy intake (533 (95% CI 3; 1063) kcals), but not with meeting energy requirements. Conclusion: Patients had an atherogenic metabolic profile, inadequate dietary pattern, and a similar REE, regardless of HAART duration, contributing even more to the increased risk of cardiovascular diseases.
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RESUMEN La obesidad y el sobrepeso se definen como una acumulación anormal o excesiva de grasa que puede ser perjudicial para la salud. Es una enfermedad crónica de origen multifactorial, que como consecuencia ocasiona problemas higiénicos, discapacidad funcional y alteración de la calidad de vida. La dermolipectomía abdominal es una técnica quirúrgica que constituye la única opción para el tratamiento de pacientes con panículo adiposo prominente; de esa forma se logra disminuir las complicaciones y se reintegra socialmente al paciente que, a causa del enorme faldón abdominal, estuvo limitado por muchos años. Presentamos el caso de una paciente de 53 años con lipodistrofia abdominal grave, que llegaba a ambos tobillos con afectación cutánea, y discapacidad para realizar actividades diarias, resuelta con dermolipectomía abdominal y resección de 29 kg de tejido dermograso. Se realizará, además, una revisión bibliográfica del tema.
ABSTRACT Overweight and obesity are defined as abnormal or excessive fat accumulation that presents a risk to health. It is a chronic disease caused by multiple factors, which results in hygienic issues, functional disability and impaired quality of life. Abdominal dermolipectomy is the only surgical option for the treatment of patients with prominent panniculus morbidus, thus reducing complications and providing social reintegration for the patient who has been limited for many years due to the enormous abdominal panniculus. We report the case of a 53-year-old female patient with severe abdominal lipodystrophy with coverage of both ankles, skin involvement, and disability to perform daily activities, that was managed with abdominal dermolipectomy and resection of 29 kg of dermo-adipose tissue. Bibliographic research is also presented.
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Femenino , Persona de Mediana Edad , Obesidad Mórbida/cirugía , Lipodistrofia/cirugía , Obesidad Mórbida/complicaciones , Pared Abdominal/cirugía , Infecciones , Lipodistrofia/diagnósticoRESUMEN
Introducción: La lipodistrofia asociada al virus de la inmunodeficiencia humana es un importante factor de riesgo cardiovascular, que se presenta entre el 10 y el 80 % de los casos, atenta contra la calidad de vida y disminuye la adherencia terapéutica. Resulta de gran interés su prevención y tratamiento. Objetivo: Describir los factores de riesgo que contribuyen a su desarrollo, sus aspectos fisiopatológicos y el tratamiento. Métodos: Se realizó una búsqueda bibliográfica en inglés y español. Se consultaron las bases de datos Pubmed, SciELO, Lilacs, Cochrane Library y Web of Science. La estrategia de búsqueda que se empleó fue: VIH OR sida AND lipodistrofia AND tejido adiposo AND terapia antirretroviral. Información, análisis y síntesis: La lipodistrofia se caracteriza por lipoatrofia de las extremidades, cara y glúteos, lipohipertrofia del área visceral, cervical y dorsocervical, o una combinación de estos. Las proteínas del virus de inmunodeficiencia humana realizan modificaciones en la regulación de genes que provocan inhibición de la diferenciación de los adipocitos y aumento de la apoptosis, a lo que contribuye el estado basal inflamatorio sistémico producido por el mismo virus. Los antirretrovirales desempeñan un papel importante en la génesis de dicha lipodistrofia. Conclusiones: El sexo femenino, la malnutrición y la edad avanzada son algunos de los factores de riesgo más relevantes asociados a la lipodistrofia del virus de inmunodeficiencia humana en la cual influyen los efectos propios del virus y la terapia antirretroviral. No existe un tratamiento farmacológico eficaz, solo se contemplan medidas higiénico-dietéticas y la cirugía estética(AU)´
Introduction: Human immunodeficiency virus associated-lipodystrophy is an important cardiovascular risk factor that develops in 10% to 80% of the cases, impairs quality of life, and reduces adherence to treatment. Its prevention and treatment is of great interest. Objective: To describe the risk factors that contribute to the development, pathophysiological aspects and treatment of human immunodeficiency virus associated-lipodystrophy. Methods: A bibliographic search in English and Spanish was conducted. Pubmed, SciELO, Lilacs, Cochrane Library and Web of Science databases were consulted. The search strategy used was: HIV OR AIDS AND lipodystrophy AND adipose tissue AND antiretroviral treatment. Information, Analysis and Synthesis: Lipodystrophy is characterized by lipoatrophy of the upper and lower limbs, face and buttocks; lipohypertrophy of the visceral, cervical and dorsocervical areas, or a combination of them. Human immunodeficiency virus proteins make modifications in the gene regulation that inhibits the adipocyte differentiation and increases apoptosis, favored by the systemic inflammatory basal state caused by the virus itself. Antiretrovirals play an important role in the genesis of lipodystrophy. Conclusions: Female sex, malnutrition, and older ages are some of the main risk factors of the human immunodeficiency virus associated-lipodystrophy, which is influenced by the effects of the virus itself and the antiretroviral therapy. An effective drug treatment is not available, only hygienic-dietary measures and aesthetic surgery are considered(AU)
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HumanosRESUMEN
Introducción: La lipodistrofia congénita de Berardinelli-Seip es un síndrome genético autosómico recesivo, caracterizado por la ausencia generalizada del tejido adiposo, el déficit de leptina y las alteraciones metabólicas incluidas la resistencia a la insulina, la esteatohepatitis y la hipertrigliceridemia. Objetivo: Definir los diferentes espectros clínicos y fisiopatológicos del síndrome y su relación con el fenotipo definiendo las estrategias terapéuticas actuales. Métodos: Se realizó una búsqueda bibliográfica no sistemática en las bases de datos Science Direct, EMBASE, LILACS, Redalyc, SciELO y PubMed. Los criterios de inclusión fueron publicaciones en inglés, portugués o español, en las que el título y las palabras clave, abordaban el tema planteado con una vigencia de 10 años. Se obtuvieron 50 artículos relacionados con el síndrome, de los cuales 30 fueron seleccionados para su revisión. Conclusiones: El diagnóstico de la enfermedad es principalmente clínico. Se establece en presencia de tres criterios mayores o la combinación de dos mayores con dos menores y/o por la identificación de variantes patogénicas por medio del estudio genético y molecular. La dieta y el ejercicio conjuntamente con la administración de la metreleptina son pilares fundamentales en el manejo de estos pacientes. El reconocimiento temprano del síndrome es esencial para prevenir las complicaciones, y brindar asesoría genética y reproductiva a los pacientes y familiares(AU)
Introduction: Berardinelli-Seip congenital lipodystrophy is an autosomal recessive genetic syndrome, characterized by the general absence of adipose tissue, leptin deficiency and metabolic alterations including insulin resistance, steatohepatitis and hypertriglyceridemia. Objective: To present the different clinical and pathophysiological spectra of the syndrome, its relationship with the phenotype, defining the current therapeutic strategies. Methods: A non-systematic bibliographic search was carried out in Science Direct, EMBASE, LILACS, Redalyc, SciELO and PubMed databases. The inclusion criteria were publications in English, Portuguese and Spanish, in which the title and keywords included information pertinent to the stated objective with a periodicity of 10 years, 50 articles were retrieved, and 30 of them were selected. Conclusions: The diagnosis of the disease is mainly clinical. It is established in the presence of three major criteria or the combination of two major and two minor criteria and/or by the identification of pathogenic variants through genetic and molecular studies. Diet and exercise together with the administration of metreleptin are fundamental pillars in the management of these patients. Early recognition of the syndrome is essential to prevent complications, allowing genetic and reproductive counseling to be provided to patients and their families(AU)
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Humanos , Síndrome Metabólico/prevención & control , Lipodistrofia Generalizada Congénita/fisiopatología , Resistencia a la Insulina , Literatura de Revisión como Asunto , Bases de Datos Bibliográficas , Estrategias de SaludRESUMEN
Introduction: People living with the human immunodeficiency virus (HIV) are generally overweight or have an altered body composition as compared to healthy individuals, showing a change in nutritional profile over time. Objective: The aim of the study was to characterize the nutritional status, estimate the prevalence of lipodystrophy, and examine the association between lipohypertrophy and lipid profile alterations, and other clinical data of HIV-infected individuals. Methods: This was a cross-sectional study on male and female subjects living with HIV, treated at a specialized outpatient clinic, aged 18 years old and over, whether using the antiretroviral therapy or not. Results: The sample consisted of 420 people with a mean age of 43.8 years (standard deviation 11.7). The length of time of the HIV infection averaged 74.6 months, and 91% of the respondents were on antiretroviral therapy. Lipodystrophy prevalence was 35.7%. Of these, 82 (54.7%) presented lipohypertrophy, 61 (40.7%) had lipoatrophy and 7 (4.6%) had a mixed syndrome. Female gender, body mass index, fat percentage, waist circumference and waist-hip ratio were positively associated with the presence of lipohypertrophy (p<0.001). High mean total cholesterol (p=0.015) and LDL fraction (p=0.028) also showed a statistically significant association with lipohypertrophy. The sampled participants had a nutritional profile compatible with overweight or obesity. No association was found between lipohypertrophy and ART and the therapy duration. Conclusion: Considering the consequences of overweight as a cause of various pathological conditions, preventive measures and interventions are highly recommended for this population.
As pessoas que vivem com o HIV geralmente têm excesso de peso ou composição corporal alterada em relação aos indivíduos saudáveis, apresentando uma mudança no perfil nutricional ao longo do tempo. Objetivo: O objetivo do estudo foi caracterizar o estado nutricional, estimar a prevalência de lipodistrofia e examinar a associação entre lipohipertrofia e alterações no perfil lipídico e outros dados clínicos de indivíduos infectados pelo HIV. Métodos: Estudo transversal com indivíduos dos sexos masculino e feminino vivendo com HIV, atendidos em ambulatório especializado, com idade igual ou superior a 18 anos, em uso ou não de terapia antirretroviral. Resultados: A amostra foi composta de 420 pessoas com média de idade de 43,8 anos (desvio padrão 11,7). O tempo de infecção pelo HIV foi em média de 74,6 meses e 91% dos entrevistados estavam em terapia antirretroviral. A prevalência de lipodistrofia foi de 35,7%. Destes, 82 (54,7%) apresentavam lipohipertrofia, 61 (40,7%) lipoatrofia e 7 (4,6%) síndrome mista. Sexo feminino, índice de massa corporal, percentual de gordura, circunferência da cintura e relação cintura-quadril foram positivamente associados à presença de lipohipertrofia (p<0,001). As médias elevadas de colesterol total (p=0,015) e fração LDL (p=0,028) também mostraram associação estatisticamente significante com lipohipertrofia. Os participantes da amostra apresentavam perfil nutricional compatível com sobrepeso ou obesidade. Não foi encontrada associação entre lipohipertrofia e terapia antirretroviral e duração da terapia. Conclusão: Considerando as consequências do excesso de peso como causa de diversas patologias, medidas e intervenções preventivas são altamente recomendadas para essa população.
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Humanos , Estado Nutricional , VIH , Lipodistrofia , Índice de Masa Corporal , Relación Cintura-Cadera , ObesidadRESUMEN
Abstract Introduction: Highly active antiretroviral therapy (HAART) transformed HIV from a fatal disease to a chronic one, but it has adverse effects, such as the lipodystrophy syndrome, characterized by morphological and metabolic changes, such as reduced bone mineral density (BMD), potentiating morbidities and mortality. Strength training (ST) aims to increase BMD, due to the osteogenic effect. Objective: To verify the impact of strength training on BMD in people with HIV. Methods: This is a quasi-experimental study, which included 40 people with a mean age of 50 ± 6 years, separated into trained group (TG, n = 20) and control group (CG, n = 20), with reduction in BMD, HIV-positive, using HAART and without exercising. BMD was assessed by DEXA in the lumbar spine, femoral neck and distal 1/3 of the radius, before and after 12 weeks, with the GT submitted to 36 ST and the CG without physical training in the DEXA evaluation in the same time interval. Results: TG had a significant increase with great effect on BMD in all segments: lumbar spine (p = 0.001; ES: 1.87), femoral neck (p = 0.003; ES: 2.20) and 1/3 distal of the radius (p = 0.001; ES: 1.81). Meanwhile, CG group showed a significant reduction with great effect on the femoral neck (p = 0.020; ES: 2.56) and 1/3 distal of the radius (p = 0.015; ES: 2.93), while the lumbar spine showed a great effect to reduce BMD (p = 0.293; ES: 1.78). Conclusion: ST can be used as a therapeutic resource to increase BMD in people with HIV, contributing to the advancement in the search for non-drug therapeutic practices.
Resumo Introdução: A terapia antirretroviral altamente ativa (HAART) transformou o HIV em uma doença crônica, apresentando efeitos adversos como a síndrome da lipodistrofia, caracterizada por alterações morfológicas e metabólicas, como redução da densidade mineral óssea (DMO), potencializando morbidades e mortalidades. O treinamento de força (TF) tem como proposta aumentar a DMO, devido ao efeito osteogênico. Objetivo: Verificar o impacto do TF na DMO em pessoas com HIV. Métodos: Trata-se de um estudo quase-experimental que incluiu 40 pessoas com idade média de 50 ± 6 anos, separadas em grupo treinado (GT, n = 20) e grupo controle (GC, n = 20), com redução na DMO, HIV positivo, usando HAART e sem praticar exercícios físicos. A DMO foi avaliada pelo DEXA na coluna lombar, colo do fêmur e 1/3 distal do rádio, antes e após 12 semanas, com o GT submetido a 36 sessões de TF e o GC sem exercício durante o mesmo período. Resultados: O GT teve aumento significante com grande efeito em todos os segmentos: coluna lombar (p = 0,001; ES: 1,87), colo do fêmur (p = 0,003; ES: 2,20) e 1/3 distal do rádio (p = 0,001; ES: 1,81), enquanto o GC apresentou redução significante com grande efeito no colo do fêmur (p = 0,020; ES: 2,56), 1/3 distal do rádio (p = 0,015; ES: 2,93) e apenas grande efeito na coluna lombar (p = 0,293; ES: 1,78). Conclusão: O TF pode ser utilizado como recurso terapêutico para aumentar a DMO em pessoas com HIV, contribuindo para o avanço nas buscas de práticas terapêuticas não medicamentosas.
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Humanos , Persona de Mediana Edad , Densidad Ósea , Síndrome de Lipodistrofia Asociada a VIH , Entrenamiento de Fuerza , Ejercicio FísicoRESUMEN
Introducción: La paniculitis mesentérica es una afección infrecuente. Aparece en la adultez tardía, con manifestaciones clínicas inespecíficas, puede cursar asintomática o caracterizarse por dolor, hinchazón y distensión abdominal, masa palpable a nivel del abdomen. Esto puede ser un hallazgo casual al realizar exploraciones radiológicas. Objetivo: Describir las características clínico-imagenológicas, así como terapéutica empleada en el tratamiento de un paciente con paniculitis mesentérica. Presentación de caso: Se presenta el caso de un paciente blanco, masculino de 59 años. Con antecedentes de hiperlipidemia, con cuadros doloroso abdominal inespecífico, de 6 meses de evolución. Se le realiza tomografía axial computarizada de abdomen simple y E/V donde se observó engrosamiento de la grasa mesentérica y múltiples imágenes nodulares a nivel del mesenterio compatible con paniculitis mesentérica. Desarrollo: La paniculitis mesentérica es una enfermedad de baja prevalencia, con mayor predominio en la sexta década de la vida, es habitualmente un hallazgo incidental en laparotomía exploratoria o tomografía computarizada de abdomen. Conclusiones: Deben conocerse las manifestaciones clínicas y hallazgos imagenológicos de la paniculitis mesentérica, así como las variantes terapéuticas en su tratamiento para evitar las intervenciones quirúrgicas innecesarias(AU)
Introduction: Mesenteric panniculitis is a rare condition. It appears in late adulthood, with nonspecific clinical manifestations, it can be asymptomatic or characterized by pain, swelling and abdominal distension, a palpable mass in the abdomen. This can be a chance finding when performing radiological examinations. Objective: To describe the clinical-imaging characteristics, as well as the therapy used in the treatment of a patient with mesenteric panniculitis. Case report: We report the case of a 59-year-old white male patient, with history of hyperlipidemia, nonspecific abdominal pain and 6 months of evolution. A simple abdominal computed tomography and E / V were performed, showing thickening of the mesenteric fat and multiple nodular images at the level of the mesentery compatible with mesenteric panniculitis. Findings: Mesenteric panniculitis is a low prevalence disease, with greater prevalence in the sixth decade of life, which is usually found incidentally in exploratory laparotomy or abdominal computed tomography. Conclusions: The clinical manifestations and imaging findings of mesenteric panniculitis must be known, as well as the therapeutic variants in its treatment to avoid unnecessary surgical interventions(AU)
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Humanos , Masculino , Persona de Mediana Edad , Paniculitis Peritoneal/epidemiología , Tomografía Computarizada por Rayos X/métodos , Lipodistrofia/diagnóstico por imagenRESUMEN
RESUMO Introdução: O Brasil apresenta um dos melhores programas de combate ao HIV do mundo e uma das características dessa abordagem é a multidisciplinaridade, onde a cirurgia plástica está envolvida. Objetivo: Realizar uma revisão não sistemática do que já foi publicado sobre HIV por cirurgiões plásticos brasileiros, analisando os principais temas estudados. Métodos: Pesquisas no PubMED, EMBASE, MEDLINE, LILACS, SciELO, Revista Brasileira de Cirurgia Plástica com os seguintes termos: "plastic surgery HIV", "plastic surgery AIDS", "HIV cirurgia plástica", "AIDS cirurgia plástica", "HIV" e "AIDS. Resultados: No total encontramos 862 artigos e após selecionar os escritos por cirurgiões plástico brasileiros, chegamos a um número final de 15, produzidos por 10 instituições de 5 estados brasileiros. O tema mais abordado foi lipodistrofia em 13 publicações. Discussão: Dos artigos selecionados, fica clara a concentração na região Sudeste. O tema mais abordado foi a lipodistrofia e os artigos sobre este foram publicados posteriores à Portaria GM/MS 2582. Áreas como neoplasia cutânea, genética e cirurgia para mudança de sexo não foram alvos de publicações, embora em outros países já haja conteúdo relacionado a HIV e cirurgia plástica produzido. Conclusão: Apesar de publicações de qualidade ainda há áreas em que a pesquisa da cirurgia plástica brasileira necessita explorar em relação ao HIV/AIDS.
ABSTRACT Introduction: Brazil presents one of the best HIV programs globally, and one of the characteristics of this approach is multidisciplinarity, where plastic surgery is involved. Objective: To conduct a non-systematic review of what has already been published on HIV by Brazilian plastic surgeons, analyzing the main themes studied. Methods: Research at PubMed, EMBASE, MEDLINE, LILACS, SciELO, Revista Brasileira de Cirurgia Plástica with the following terms: "plastic surgery HIV", "plastic surgery AIDS", "HIV plastic surgery", "AIDS plastic surgery", "HIV" and "AIDS. Results: We found 862 articles, and after selecting those written by Brazilian plastic surgeons, we reached a final number of 15, produced by 10 institutions from 5 Brazilian states. The most addressed theme was lipodystrophy in 13 publications. Discussion: From the selected articles, it is clear the concentration in the Southeast region. The most addressed theme was lipodystrophy, and the articles on it were published after ordinance GM/MS 2582. Areas such as skin cancer, genetics and surgery for gender reassignment have not been published, although there is already content related to HIV and plastic surgery in other countries. Conclusion: Despite quality publications, there are still areas in which Brazilian plastic surgery research needs to explore concerning HIV/AIDS.
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Resumen El lipedema es una enfermedad común, frecuentemente subdiagnosticada, crónica y progresiva, que genera un gran deterioro en la calidad de vida. Consiste en el depósito anormal de tejido adiposo subcutáneo principalmente en las extremidades inferiores, afectando casi exclusivamente a mujeres. Sus síntomas principales son el dolor, la sensibilidad y la facilidad para producir equimosis. Desde el punto de vista fisiopatológico, existiría una susceptibilidad poligénica combinada con trastornos hormonales, microvasculares y linfáticos que pueden ser en parte responsables del desarrollo del lipedema. Se clasifica, según la distribución de la grasa en cinco tipos y, según la gravedad de la enfermedad, en cuatro etapas. El diagnóstico es eminentemente clínico y se debe diferenciar de otras patologías que producen aumento de volumen de las extremidades, especialmente el linfedema y obesidad. Es importante realizar un estudio funcional del sistema linfático cuando el diagnóstico es dudoso o para la etapificación del lipedema, por lo que la correcta interpretación de estos resultados es fundamental. El tratamiento está enfocado en disminuir la discapacidad y evitar la progresión, con el fin de mejorar la calidad de vida. Actualmente, la liposucción es un tratamiento efectivo para el lipedema, sin embargo, las técnicas empleadas para la lipectomía en el lipedema son diferentes a las técnicas utilizadas para la liposucción con fines estéticos. Las técnicas selectivas que respetan los vasos linfáticos tienen mejor rendimiento para reducir el volumen de grasa, retrasar la progresión, reducir el dolor, reducir la alteración marcha y mejorar la calidad de vida en estos pacientes.
Lipedema is a common, frequently under-diagnosed, chronic and progressive disease that generates an important detriment in quality of life. It consists in an abnormal deposit of subcutaneous adipose tissue mainly in the lower extremities, almost exclusively affecting women. Its main symptoms are pain, sensitivity and the ease of causing bruising. From the pathophysiological point of view, there would be a polygenic susceptibility combined with hormonal, microvascular and lymphatic disorders that may be partly responsible for the development of lipedema. It is classified according to the distribution of fat into five types and, according to the severity of the disease, in four stages. The diagnosis is eminently clinical and must be differentiated from other diseases that cause an increase in the volume of the extremities, especially lymphedema and obesity. It is important to carry out a study of the lymphatic system functionality when the diagnosis is not clear or for lipedema staging, so the correct interpretation of these results is essential. Treatment is focused on reducing disability and preventing progression, in order to improve quality of life. Liposuction is currently an effective treatment for lipedema, however, the techniques used for lipectomy in lipedema are different from the techniques used for liposuction for cosmetic purposes. Selective techniques that spare the lymphatic vessels have better results reducing fat volume, delaying progression, reducing pain, reducing gait disturbance, and improving quality of life of these patients.
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Humanos , Lipedema/cirugía , Lipedema/diagnóstico , Lipedema/fisiopatología , Calidad de Vida , Linfedema/fisiopatologíaRESUMEN
Introducción. El objetivo de este artículo es dar a conocer el caso de un paciente con diagnóstico de mesenteritis esclerosante quien cursó con cuadro de obstrucción intestinal. Descripción del caso. Paciente masculino de 28 años de edad, quien se presenta con cuadro clínico sugestivo de obstrucción intestinal, por lo que se decide resolución quirúrgica. Durante la cirugía se observa una zona fibrótica y adherente del intestino delgado, asociada a un mesenterio engrosado. El examen histopatológico de la pieza quirúrgica confirmó el diagnóstico de mesenteritis esclerosante. Discusión. La mesenteritis esclerosante es una patología de baja incidencia, y su forma de presentación es inespecífica, por lo que el diagnóstico definitivo es histopatológico. La tomografía es útil para el diagnóstico cuando se tiene la sospecha clínica. Puede optarse por el tratamiento quirúrgico para los casos que se presenten con clínica de obstrucción intestinal, o en caso contrario, el tratamiento médico a base de fármacos inmunosupresores e inmunomoduladores ha demostrado ser efectivo. De acuerdo con los diferentes estudios publicados hasta el momento, se observa una adecuada respuesta, independientemente del tratamiento empleado
Introduction. The objective of this article is to present the case of a patient diagnosed with sclerosing mesenteritis who presented with intestinal obstruction.Case description. A 28-year-old male patient, who presented with a clinical picture suggestive of intestinal obstruction, for which a surgical resolution was decided. During surgery, a fibrotic and adherent area of the small intestine is observed, associated with a thickened mesentery. The histopathological examination of the surgical specimen confirmed the diagnosis of sclerosing mesenteritis. Discussion. Sclerosing mesenteritis is a low incidence pathology, and its presentation is nonspecific, so the definitive diagnosis is histopathological. Tomography is useful for diagnosis when there is clinical suspicion. Surgical treatment can be chosen for cases that present with symptoms of intestinal obstruction, or otherwise medical treatment based on immunosuppressive and immunomodulatory drugs has proven to be effective. According to the different studies published so far, an adequate response is observed, regardless of the treatment used
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Humanos , Paniculitis Peritoneal , Enfermedades Intestinales , Obstrucción Intestinal , LipodistrofiaRESUMEN
Objective:To investigate the clinical and genetic features in a family with type 2 congenital generalized lipodystrophy, and to improve the understanging of this disease.Methods:The clinical symptoms, results of the laboratory, and radiography examinations of the patient and his family members were analyzed. The whole exome sequencing and Sanger validation were used to determine the genetic cause of the disease.Results:Generalized lipodystrophy, impaired liver function, severe hypertriglyceridemia, and acanthosis nigricans were found in the proband. His serum leptin level was much lower than normal value. The proband and three members of this family were confirmed to have insertion mutation at exon 5 of BSCL2 gene. The site was mutated from TTC to TCGGTC, resulting in the replacement of glutamate by aspartate and arginine. The mutation in proband was homozygote, and his father, mother, and brother were heterozygous.Conclusions:The mutation in exon 5 c. 545_546insCCG of BSCL2 gene leads to the occurrence of type 2 congenital generalized lipodystrophy.
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Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.