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1.
Article in English | LILACS | ID: biblio-1381742

ABSTRACT

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.


Subject(s)
Humans , Nutritional Status , HIV , Lipodystrophy , Body Mass Index , Waist-Hip Ratio , Obesity
2.
Fisioter. Mov. (Online) ; 35: e35117, 2022. tab
Article in English | LILACS | ID: biblio-1384949

ABSTRACT

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.


Subject(s)
Humans , Middle Aged , Bone Density , HIV-Associated Lipodystrophy Syndrome , Resistance Training , Exercise
3.
Rev. bras. cir. plást ; 36(3): 309-314, jul.-set. 2021. tab, graf
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1365567

ABSTRACT

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.

4.
Rev. cir. (Impr.) ; 73(3)jun. 2021.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1388834

ABSTRACT

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.

5.
Rev. colomb. cir ; 36(2): 338-343, 20210000. fig
Article in Spanish | LILACS | ID: biblio-1247568

ABSTRACT

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


Subject(s)
Humans , Panniculitis, Peritoneal , Intestinal Diseases , Intestinal Obstruction , Lipodystrophy
6.
Article in Chinese | WPRIM | ID: wpr-907863

ABSTRACT

The clinical data of a child with SHORT syndrome caused by PIK3R1 gene mutation in Children′s Hospital of Nanjing Medical University was retrospectively analyzed.The patient was a 11 years old and 5 months Chinese girl initially hospitalized due to polyuria, polyphagia and polydipsia in the past 2 months.Physical examination showed decreased subcutaneous fat on the face, a triangular-shaped face, ocular depression, a wide nose bridge, hypoplastic nasal alae, columnar depression in the low part of the nose, downturned lips, hyperpigmentation of the skin of the neck, axillae, cubital and popliteal fossae and groins (acanthosis nigricans). Besides, slight cubitus valgus and hyperextension were observed.Laboratory tests showed diabetes mellitus with insulin resistance.Whole exome sequencing identified a de novo heterozygous PIK3R1 mutation (c.1945C>T, p.Arg649Trp), SHORT syndrome is a rare autosomal dominant disorder, characterized by special facial appearance, lipodystrophy and insulin resistance.Molecular analysis of the PIK3R1 gene permits confirmation of the diagnosis.The patients with SHORT syndrome require multidisciplinary management, and early diagnosis can prevent complications and reduce the burden on the family.

7.
Article in Chinese | WPRIM | ID: wpr-911396

ABSTRACT

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.

8.
Article in Chinese | WPRIM | ID: wpr-911365

ABSTRACT

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.

9.
Clinics ; 76: e2457, 2021. tab, graf
Article in English | LILACS | ID: biblio-1153938

ABSTRACT

OBJECTIVES: Comprehensive care for people living with human immunodeficiency virus (HIV) (PLH) includes the promotion of healthier habits, including physical activity (PA). This study aimed to describe a multicomponent pragmatic trial protocol to assess the effect of PA in preventing body changes and metabolic disturbances, improving the quality of life of PLH starting antiretroviral therapy (ART) and present cohort characteristics. METHODS: PLH undergoing ART for ≤4 months were recruited for a randomized trial. The intervention comprised three cardiorespiratory and/or strength training sessions per week at the clinic or in public spaces for 6 months under on-site or remote supervision, and educational sessions. Participants' PA levels, cardiorespiratory fitness, anthropometric measures, strength, flexibility, quality of life, and laboratory monitoring (blood glucose and lipids, CD4 counts) at baseline and post-intervention will be compared. The pragmatic design aims to enable the assessment of intervention effectiveness in real-life conditions. RESULTS: At baseline, our cohort of 38 recently diagnosed patients (mean time since HIV diagnosis and duration of ART were 3 and 2.58 months, respectively) were predominantly male, young, with high schooling and good immune status (median CD4 count=498 cells/mm3). Twenty-two (57.9%) patients reported a PA below the World Health Organization recommendations. We found baseline normal anthropometric measures and metabolic parameters: below-average trunk flexion and elbow extension strength, poor handgrip strength and flexibility, and high quality of life scores in all except the physical domain. CONCLUSIONS: Understanding how effective PA is in preventing body changes and metabolic disturbances, and in improving the quality of PLH starting ART may help establish guidelines to better incorporate PA in HIV care.


Subject(s)
Humans , Male , Quality of Life , HIV Infections/drug therapy , Exercise , Hand Strength , CD4 Lymphocyte Count
10.
Rev. Fac. Med. (Bogotá) ; 68(4): 639-643, oct.-dic. 2020. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1149566

ABSTRACT

Resumen Introducción. La lipodistrofia congénita generalizada (LCG) es un síndrome genético autosómico recesivo extremadamente raro que se caracteriza por ausencia generalizada de tejido adiposo, deficiencia en la producción de hormonas como la leptina y complicaciones metabólicas potencialmente serias como diabetes mellitus tipo 2 (DM2), esteatohepatitis e hipertrigliceridemia. Presentación del caso. Paciente femenina de 17 años con un diagnóstico tardío de LCG y con diabetes mellitus (erróneamente clasificada como tipo I), hipertrigliceridemia severa e infecciones a repetición. Luego de introducir metformina y un inhibidor del SGLT2 en el manejo de la paciente, se logró un adecuado control metabólico. Conclusión. Con frecuencia, el desconocimiento de algunas enfermedades huérfanas lleva a diagnósticos erróneos y, por tanto, a tratamientos inadecuados que en algunos casos pueden empeorar la condición clínica de los pacientes. Por lo anterior, en el caso de la LCG, es necesario que la comunidad médica tenga una mejor comprensión de sus aspectos diagnósticos y terapéuticos para brindar un diagnóstico y tratamiento oportunos.


Abstract Introduction: Generalized congenital lipodystrophy (GDL) is an extremely rare autosomal recessive genetic syndrome characterized by generalized absence of adipose tissue, deficient production of hormones such as leptin, and potentially serious metabolic complications such as type 2 diabetes mellitus (DM2), steatohepatitis and hypertriglyceridemia. Case presentation: This is the case of a 17-year-old female patient with a late diagnosis of GDL and with diabetes mellitus (erroneously classified as type 1), severe hypertriglyceridemia and recurrent infections. Adequate metabolic control was achieved after the introduction of metformin and an SGLT2 inhibitor. Conclusion: Lack of knowledge about some orphan diseases usually leads to misdiagnosis and, therefore, to inadequate treatments that may worsen the clinical condition of patients. Therefore, in the case of GDL, the medical community should have a better understanding of its diagnostic and therapeutic aspects in order to provide timely diagnosis and treatment.


Subject(s)
Humans , Insulin Resistance , Diabetes Mellitus , Lipodystrophy, Congenital Generalized , Fatty Liver , Lipodystrophy
11.
Int. j. cardiovasc. sci. (Impr.) ; 33(6): 606-615, Nov.-Dec. 2020. tab, graf
Article in English | LILACS | ID: biblio-1143114

ABSTRACT

Abstract Background Patient self-report is the most common diagnostic tool in the literature to detect HIV/HAART-associated lipodystrophy. However, data on the association of cardiovascular risk factors with HIV/HAART-associated lipodystrophy assessed by self-report are still missing. Objectives To determine the prevalence of self-reported HIV/HAART-associated lipodystrophy and to identify independent associations between traditional modifiable cardiovascular risk factors and self-reported lipodystrophy. Methods We conducted a retrospective observational study at an outpatient infectious disease clinic in the Central-West of Brazil to identify the association between traditional modifiable cardiovascular risk factors and self-reported lipodystrophy. Sedentary lifestyle, smoking status, family history of cardiovascular disease, hypertension, diabetes, dyslipidemia, increased waist circumference and overweight were the cardiovascular risk factors assessed. Self-reported HIV/HART-associated lipodystrophy was categorized as: mild (noticeable by patients' close inspection), moderate (easily noticeable by patient and physician) or severe (readily noticeable by a casual observer). Prevalence ratio (PR) and 95% confidence interval (CI95%) were calculated. Multivariate Poisson's regression was used to analyze factors associated to HIV/HAART-associated lipodystrophy assessed by self-report considering a significance level of 5%. Results A total of 183 patients were included, with a mean age of 39.3±10.9 years. Most of the sample were male (77.6%), non-white (50.8%) and single (53.0%). The overall prevalence of HIV/HAART-associated lipodystrophy was 52.5% (95% CI 44.96 - 59.88). Severe lipodystrophy was observed in more than half patients (55.2%). No traditional modifiable cardiovascular risk factor was independently associated with lipodystrophy. Female sex (PR 1.49; 95% CI 1.15 - 1.95; p =0.003), time of HIV infection diagnosis of 1-3 years (PR 1.83; 95% CI 1.09 - 3.08; p =0.002) and a positive family history of CVD (PR 1.62; 95% CI 1.11 - 2.36; p <0.001) were independently associated with lipodystrophy. Conclusion HIV/HAART-associated lipodystrophy assessed by patient self-report was not associated with traditional modifiable cardiovascular risk factors. Int J Cardiovasc Sci. 2020; [online].ahead print, PP.0-0


Subject(s)
Humans , Male , Female , Adult , Middle Aged , HIV-Associated Lipodystrophy Syndrome/complications , Heart Disease Risk Factors , Cardiovascular Diseases/complications , Prevalence , Retrospective Studies , Acquired Immunodeficiency Syndrome/complications , Antiretroviral Therapy, Highly Active/adverse effects , HIV-Associated Lipodystrophy Syndrome/epidemiology , Metabolic Diseases/complications
12.
Arch. endocrinol. metab. (Online) ; 64(5): 559-566, Sept.-Oct. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131124

ABSTRACT

ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed. Results: An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in AGPAT2 and three in BSCL2. Three large homozygous deletions in AGPAT2 were identified by copy-number variant analysis. Conclusions: Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.


Subject(s)
Humans , GTP-Binding Protein gamma Subunits/genetics , Lipodystrophy, Congenital Generalized/diagnosis , Lipodystrophy, Congenital Generalized/genetics , Lipodystrophy/diagnosis , Lipodystrophy/genetics , Alleles , High-Throughput Nucleotide Sequencing , Mutation/genetics
13.
Rev. bras. cir. plást ; 35(2): 249-253, apr.-jun. 2020. ilus
Article in English, Portuguese | LILACS | ID: biblio-1103841

ABSTRACT

Introdução: Atualmente com o aumento das gastroplastias redutoras (cirurgia bariátrica) e grande perda ponderal, há também um aumento na procura destes pacientes pela cirurgia plástica. Uma das características destes pacientes é o excesso de tecido dermogorduroso que causa deformidades, principalmente nos membros inferiores, acometendo a região trocantérica. Objetivo: Relatar um caso de dermolipectomia trocantérica em paciente pós-cirurgia bariátrica, onde a lipoaspiração por si só não resolveria a correção da deformidade. Relato de caso: IPMS, sexo feminino, 55 anos, histórico de gastroplastia redutora (cirurgia bariátrica) com grande perda ponderal. Relata desconforto importante com a lipodistrofia e extensa flacidez em região trocantérica bilateral. Após avaliação pela equipe, foi optado por realizar dermolipectomia trocantérica bilateral, em janeiro de 2019, no Serviço de Cirurgia Plástica Osvaldo Saldanha. Discussão: Nos casos de lipodistrofia trocantérica com deformidades graves, a cicatriz da dermolipectomia em relação à deformidade é favorável quanto a escolha desta técnica, pois a lipoaspiração poderá agravar ainda mais a deformidade, sendo mandatório utilizar a técnica de dermolipectomia trocantérica para corrigila. Quanto à lipodistrofia com deformidade moderada há dúvida entre a relação do benefício e a deformidade resultante, sendo aplicada a técnica de acordo com a necessidade do paciente e, por fim, nos casos de lipodistrofia com deformidade leve, opta-se pela lipoaspiração devido à correção ser realizada sem grandes cicatrizes aparentes. Conclusão: Portanto, a lipoaspiração tem benefício nos casos de adiposidade localizada, limitando as indicações da técnica de dermolipectomia, em especial na região trocantérica, sem invalidá-la para casos selecionados, como o descrito neste relato de caso.


Introduction: Currently, with the increase in reducing gastroplasty (bariatric surgery) and the great weight loss, there is also an increase in the demand of these patients for plastic surgery. One of the characteristics of these patients is the excess of dermal adipose tissue that causes deformities, especially in the lower limbs, affecting the trochanteric region. Objective: To report a case of trochanteric dermolipectomy in a patient after bariatric surgery, where liposuction alone would not solve the correction of the deformity. Case report: IPMS, female, 55 years old, history of reducing gastroplasty (bariatric surgery) with great weight loss. She reports significant discomfort with lipodystrophy and extensive flacidity in the bilateral trochanteric region. After the team's evaluation, it was decided to perform bilateral trochanteric dermolipectomy, in January 2019, at the Plastic Surgery Service Osvaldo Saldanha Discussion: In cases of trochanteric lipodystrophy with severe deformities, the scar of dermolipectomy in relation to the deformity is favorable in terms of the choice of this technique, since liposuction may further aggravate the deformity, and it is mandatory to use the trochanteric dermolipectomy technique to correct it. Conclusion: Therefore, liposuction is beneficial in cases of localized adiposity, limiting the indications for the dermolipectomy technique, especially in the trochanteric region, without invalidating it for selected cases, as described in this case report.


Subject(s)
Humans , Female , Middle Aged , History, 21st Century , Postoperative Complications , Surgery, Plastic , Obesity, Morbid , Case Reports , Cicatrix , Evaluation Study , Lower Extremity , Bariatric Surgery , Lipodystrophy/pathology , Postoperative Complications/surgery , Surgery, Plastic/adverse effects , Surgery, Plastic/methods , Obesity, Morbid/surgery , Obesity, Morbid/complications , Obesity, Morbid/pathology , Cicatrix/surgery , Lower Extremity/surgery , Bariatric Surgery/adverse effects , Bariatric Surgery/methods , Lipodystrophy , Lipodystrophy/surgery , Lipodystrophy/complications
14.
Ciênc. Saúde Colet. (Impr.) ; 25(3): 989-998, mar. 2020. tab
Article in Portuguese | LILACS | ID: biblio-1089480

ABSTRACT

Resumo O uso de antirretroviral aumentou a sobrevida dos portadores do HIV, porém pode acarretar efeitos colaterais, como a síndrome lipodistrófica. O objetivo deste artigo é identificar a frequência da síndrome lipodistrófica e seus fatores associados em pacientes portadores do HIV em uso de terapia antiretroviral. Estudo transversal com pacientes acompanhados ambulatorialmente. A síndrome foi avaliada pela associação de dois parâmetros: emagrecimento periférico através da escala de gravidade de lipodistrofia e acúmulo de gordura central, mensurado pela relação cintura quadril. Para identificar as variáveis associadas foi realizada a análise de Regressão de Poisson. Dos 104 pacientes avaliados, 27,9% apresentaram a síndrome. Após ajuste, ser do sexo feminino (RPajustada = 2,16 IC95%1,43-3,39), ter excesso de peso (RPajustada = 2,23 IC95%1,35-2,65) e um maior tempo de uso dos antirretrovirais (RPajustada = 1,64 IC95%1,16-2,78) permaneceram positivamente associados à síndrome. Por outro lado, foi observada uma associação negativa com a contagem de CD4 £ 350 (RPajustada = 0,39 IC95%0,10-0,97). A alta prevalência da síndrome e sua associação com grupos específicos reforçam a necessidade do adequado acompanhamento e identificação precoce como forma de intervir nos fatores modificáveis.


Abstract The use of antiretroviral drugs has increased the survival of HIV patients, but may have side effects, such as lipodystrophic syndrome. This article aims to identify the frequency of the lipodystrophic syndrome and its associated factors in patients with HIV using antiretroviral therapy. It involved a cross-sectional study with HIV patients, monitored on an outpatient basis. The syndrome was evaluated by the association of two parameters: peripheral weight loss through the lipodystrophy severity scale and central fat accumulation, measured by the hip waist ratio. Poisson regression analysis was performed to identify the associated variables. Of the 104 patients evaluated, 27.9% presented the syndrome. After adjustment, the female sex (PRadjusted = 2.16 CI95% 1.43-3.39), being overweight (PRadjusted = 2.23 CI95% 1.35-2.65) and a longer period of use of antiretrovirals (PRadjusted = 1.64 CI95% 1.16-2.78), remained positively associated with the syndrome. On the other hand, a negative association with CD4 count £ 350 (PRadjusted = 0.39 CI95% 0.10-0.97) was observed The high prevalence of the syndrome and its association with specific groups reinforce the need for adequate follow-up and early identification to intervene in modifiable factors.


Subject(s)
Humans , Male , Female , Adult , Young Adult , HIV Infections/drug therapy , HIV-Associated Lipodystrophy Syndrome/chemically induced , HIV-Associated Lipodystrophy Syndrome/epidemiology , Anti-Retroviral Agents/adverse effects , Cross-Sectional Studies , Risk Factors , Anti-Retroviral Agents/therapeutic use , Hospitals, University , Middle Aged
15.
Arq. bras. cardiol ; 114(2): 305-312, Feb. 2020. tab, graf
Article in English | LILACS | ID: biblio-1088853

ABSTRACT

Abstract Familial lipodystrophy is a rare genetic condition in which individuals have, besides metabolic changes and body fat deposits, a type of cardiomyopathy that has not been well studied. Many of the patients develop cardiovascular changes, the most commonly reported in the literature being the expression of a type of hypertrophic cardiomyopathy. This article, presented as a bibliographic review, reviews the clinical and cardiovascular imaging aspects in this scenario of cardiomyopathy in a rare metabolic disease, based on the latest scientific evidence published in the area. Despite the frequent association of congenital lipodystrophy and ventricular hypertrophy described in the literature, the pathophysiological mechanisms of this cardiomyopathy have not yet been definitively elucidated, and new information on cardiac morphological aspects is emerging in the aegis of recent and advanced imaging methods, such as cardiac magnetic resonance.


Resumo A lipodistrofia familiar é uma condição genética rara na qual indivíduos apresentam, além das alterações metabólicas e de depósitos de gordura físicos, um tipo de cardiomiopatia pouco estudada. Muitos dos pacientes desenvolvem alterações cardiovasculares, sendo a mais comumente reportada em literatura, a expressão de um tipo de cardiomiopatia hipertrófica. Este artigo, apresentado como uma revisão bibliográfica, revisa os aspectos clínicos e de imagem cardiovascular neste cenário de cardiomiopatia em doença metabólica rara, com base nas últimas evidências científicas publicadas na área. Apesar da frequente associação de lipodistrofia congênita e hipertrofia ventricular descrita em literatura, os mecanismos fisiopatológicos desta cardiomiopatia ainda não estão definitivamente elucidados, e novas informações do aspecto morfológico cardíaco surgem à égide de recentes e avançados métodos de imagem como a ressonância cardíaca magnética.


Subject(s)
Humans , Cardiomyopathy, Hypertrophic/etiology , Cardiomegaly/etiology , Lipodystrophy, Familial Partial/complications , Cardiomyopathy, Hypertrophic/physiopathology , Cardiomyopathy, Hypertrophic/diagnostic imaging , Magnetic Resonance Imaging , Adipose Tissue/physiopathology , Hypertrophy, Left Ventricular , Cardiomegaly/physiopathology , Cardiomegaly/diagnostic imaging , Lipodystrophy, Congenital Generalized/complications , Lipodystrophy, Congenital Generalized/physiopathology , Lipodystrophy, Congenital Generalized/diagnostic imaging , Lipodystrophy, Familial Partial/physiopathology , Lipodystrophy, Familial Partial/diagnostic imaging
16.
Article | IMSEAR | ID: sea-204460

ABSTRACT

Lawrence syndrome (Acquired Generalized Lipodystrophy) is a rare disorder, characterized by various dermatological and systemic manifestations such as lipodystrophy, hypertriglyceridemia, hepatomegaly, acanthosis nigricans and acromegaloid features. Because of its rare occurrence we are reporting a case with similar manifestations in a 10 years old child.

17.
Rev. Assoc. Med. Bras. (1992) ; 66(1): 67-73, Jan. 2020. tab, graf
Article in English | LILACS | ID: biblio-1091901

ABSTRACT

SUMMARY OBJECTIVES Individuals living with HIV seem to be more prone to changes in the redistribution of body fat, characterized as lipodystrophy, which may occur in conjunction with metabolic diseases. In the present study, such impacts were assessed in adults with and without HIV and associated with the time of virus diagnosis and treatment with antiretroviral. METHODS A cross-sectional study with 123 adults, in which 87 had HIV and 36 without HIV, of both sexes, in outpatient follow-up at the Specialized Care Service (SAE) in Macaé-RJ. The following were made: 1) Alteration in body fat distribution, measured by anthropometric parameters and self-reported lipodystrophy; 2) Biochemical profile; 3) Association between HIV diagnosis time and antiretroviral treatment. RESULTS 54.47% (n = 67) males, 45.52% (n = 56) females, mean age 37 years. Of these 87 were people living with HIV, 29% (n = 25) had self-reported lipodystrophy, mean time of virus infection, and antiretroviral treatment (5.80 ± 4.56 and 5.14 ± 3.82 years), respectively. Patients with self-reported lipodystrophy had a greater change in body fat distribution between 3-6 years of HIV diagnosis and a negative cholesterol profile. The antiretroviral treatment time influenced total cholesterol and triglycerides, even for patients without self-reported lipodystrophy, with a further nine years under treatment. CONCLUSION In this study, the negative cholesterol profile was mainly related to antiretroviral treatment time, even for patients without self-reported lipodystrophy, and changes in body fat distribution, measured by anthropometry, was especially associated with time for HIV infection in those with lipodystrophy self-reported.


RESUMO OBJETIVOS Indivíduos vivendo com HIV parecem mais propensos às alterações na redistribuição da gordura corporal, caracterizada como lipodistrofia, podendo acontecer em conjunto com as metabólicas. No presente estudo avaliaram-se tais impactos em adultos com e sem HIV e se associou ao tempo de diagnóstico do vírus e tratamento com antirretroviral. MÉTODOS Estudo tipo transversal, com 123 adultos, no qual 87 tinham HIV e 36 sem HIV, de ambos os sexos, em seguimento ambulatorial no Serviço de Atendimento Especializado (SAE) em Macaé - RJ. Foram feitos: 1) Alteração na distribuição da gordura corporal, mensurados por parâmetros antropométricos e lipodistrofia autorreferida; 2) Perfil bioquímico; 3) Associação entre tempo diagnóstico do HIV e tratamento com antirretroviral. RESULTADOS Incluíram-se 54,47% (n=67) do sexo masculino, 45,52% (n=56) do feminino, com média de idade de 37 anos. Destes, 87 eram pessoas vivendo com HIV, 29% (n=25) possuíam lipodistrofia autorreferida; tempo médio de infecção pelo vírus e tratamento antirretroviral (5,80±4,56 e 5,14±3,82 anos), respectivamente. Os pacientes com lipodistrofia autorreferida tiveram maior alteração na distribuição da gordura corporal entre 3-6 anos de diagnóstico do HIV e um perfil colesterolêmico negativo. O tempo de tratamento com antirretroviral influenciou o colesterol total e os triglicerídeos, mesmo para os pacientes sem lipodistrofia autorreferida, com mais de nove anos sob tratamento. CONCLUSÃO Neste estudo, o perfil colesterolêmico negativo se relacionou principalmente ao tempo de tratamento com antirretroviral, mesmo para os pacientes sem lipodistrofia autorreferida e as alterações na distribuição da gordura corporal, mensuradas por antropometria, se associaram especialmente ao tempo de infecção pelo HIV naqueles com lipodistrofia autorreferida.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , HIV Infections/drug therapy , HIV-Associated Lipodystrophy Syndrome/physiopathology , HIV-Associated Lipodystrophy Syndrome/epidemiology , Anti-Retroviral Agents/therapeutic use , Body Fat Distribution , Time Factors , Triglycerides/blood , Brazil/epidemiology , Body Mass Index , HIV Infections/blood , Sex Factors , Adipose Tissue/physiopathology , Cholesterol/blood , Cross-Sectional Studies , Risk Factors , Analysis of Variance , Antiretroviral Therapy, Highly Active , HIV-Associated Lipodystrophy Syndrome/blood , Self Report , Middle Aged
18.
Acta cir. bras ; 35(4): e202000403, 2020. tab, graf
Article in English | LILACS | ID: biblio-1130637

ABSTRACT

Abstract Purpose To collect data capable of pointing out the effects of the ultracavitation treatment on the liver of rabbits after adipose tissue application, by means of histological analyses of the liver and hematological and biochemical exams. Methods This is an experimental study with 12 albino rabbits as sample, which were divided into 3 groups and submitted to a hypercaloric diet for one month. Subsequently, subjects underwent UCV treatment: 3 minutes, 30 W, continuous mode at 100%, every 2 ERAS = 441.02 J/cm2, intensity of 10w/cm2. They were then euthanized and underwent biopsy after 24 hours. Results After 48 hours from the ultracavitation treatment, the animals' livers presented greater amount of fat infiltration if compared to the amount presented 96 hours after the treatment. However, laboratory tests showed no alterations. Values were maintained within normal parameters of cholesterol, triglycerides, liver enzymes, hemoglobin and hematocrit levels. Conclusions This study has identified that infiltrates may appear on livers after the treatment, despite high hematological and biochemical tests results. The fat infiltrates reduction 96 h after treatment suggests lower risks to animal health, if the period between applications is respected.


Subject(s)
Adipose Tissue/pathology , High-Intensity Focused Ultrasound Ablation/methods , Lipodystrophy/pathology , Lipodystrophy/therapy , Liver/pathology , Rabbits , Aspartate Aminotransferases/blood , Reference Values , Triglycerides/blood , Hemoglobins/analysis , Cholesterol/blood , Reproducibility of Results , Risk Factors , Treatment Outcome , Alanine Transaminase/blood , High-Intensity Focused Ultrasound Ablation/adverse effects , Hematocrit , Lipodystrophy/blood
19.
Rev. bras. cir. plást ; 34(4): 458-467, oct.-dec. 2019. ilus, tab
Article in English, Portuguese | LILACS | ID: biblio-1047901

ABSTRACT

Introdução: A lipoaspiração tem sido submetida à evolução constante desde a sua consolidação e emprego sistemático. O auxílio de tecnologia ultrassônica de terceira geração, VASER® (Vibration Amplification of Sound Energy at Resonance), se destina a facilitar a execução da lipoaspiração e trazer maior segurança e resultados satisfatórios, especialmente na busca por maior definição e lipoaspiração superficial. Métodos: No período de 2015 a 2017, 76 pacientes foram submetidas à lipoaspiração para melhora de contorno corporal no Centro Hospitalar Santa Mônica em Erechim. Foram avaliados os resultados obtidos, as possíveis complicações e a segurança do emprego do VASER®. Resultados: A utilização rotineira do VASER® gera aperfeiçoamento de resultados em contorno corporal. A emulsificação gerada pelo dispositivo associada à lipoaspiração em diversos níveis permite uma maior definição e evidenciação dos marcos anatômicos. Conclusão: Lipoaspiração associada ao VASER® permite ao cirurgião plástico o refinamento de seus resultados com a preservação da segurança do paciente.


Introduction: Liposuction has been improved continuously since it was first introduced. The third-generation ultrasound technology VASERTM (Vibration Amplification of Sound Energy at Resonance) facilitates liposuction, providing improved safety and satisfactory results, especially in the search for greater definition and superficial liposuction. Methods: From 2015 to 2017, 76 patients underwent liposuction to improve their body contour at the Santa Monica Hospital Center in Erechim, Rio Grande do Sul, Brazil. The results, complications, and the safety of VASERTM were evaluated. Results: The routine use of VASERTM improves body contour. The emulsification generated by the device, along with liposuction, resulted in greater definition and revelation of the anatomical landmarks. Conclusion: Liposuction associated with VASERTM allows plastic surgeons to refine the results better while ensuring patient safety is maintained.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , History, 21st Century , Postoperative Complications/surgery , Surgical Procedures, Operative , Lipectomy , Adipose Tissue , Subcutaneous Fat/surgery , Patient Safety/standards , Body Contouring , Lipodystrophy , Postoperative Complications , Surgical Procedures, Operative/adverse effects , Surgical Procedures, Operative/methods , Lipectomy/methods , Adipose Tissue/surgery , Subcutaneous Fat , Patient Safety , Body Contouring/adverse effects , Body Contouring/methods , Lipodystrophy/surgery , Lipodystrophy/complications
20.
Rev. méd. Chile ; 147(11): 1449-1457, nov. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1094175

ABSTRACT

Lipodystrophies are a heterogeneous group of syndromes defined by a severe reduction of the adipose tissue. These can be congenital or acquired. Anatomically, they can be partial or generalized. The etiology of several lipodystrophies is well known. However, the cause of many others remains unknown. The commonest lipodystrophy worldwide is secondary to highly active anti-retroviral therapy in HIV-infected patients. By contrast, primary lipodystrophies (those not associated to any known disease or condition) are much less common and represent a diagnostic challenge. The major complications of lipodystrophies are metabolic, often resulting in severe insulin resistance, diabetes and dyslipidemia. No cure is available for lipodystrophies but the supplementation with recombinant leptin potently controls the metabolic abnormalities when there is a leptin deficiency. Herein, we review the clinical presentation, diagnostic process and therapeutic principles of the main primary lipodystrophy syndromes.


Subject(s)
Humans , Lipodystrophy/classification , Lipodystrophy/diagnosis , Lipodystrophy/genetics , Lipodystrophy/drug therapy , Diagnosis, Differential
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