A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report / Uma rara mutação missense no gene LMNA causando um fenótipo grave de displasia mandibuloacral tipo A: relato de caso

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.

Hutchinson-Gilford Progeria Syndrome: Cellular Mechanisms and Therapeutic Perspectives.

In humans, aging is characterized by a gradual decline of physical and psychological functions, with the concomitant onset of chronic-degenerative diseases, which ultimately lead to death. The study of Hutchinson-Gilford progeria syndrome (HGPS), a premature aging disorder that recapitulates several features of natural aging, has provided important insights into deciphering the aging process. The genetic origin of HGPS is a de novo point mutation in the LMNA gene that drives the synthesis of progerin, mutant version of lamin A. Progerin is aberrantly anchored to the nuclear envelope disrupting a plethora of molecular processes; nonetheless, how progerin exerts a cascade of deleterious alterations at the cellular and systemic levels is not fully understood. Over the past decade, the use of different cellular and animal models for HGPS has allowed the identification of the molecular mechanisms underlying HGPS, paving the way towards the development of therapeutic treatments against the disease. In this review, we present an updated overview of the biology of HGPS, including its clinical features, description of key cellular processes affected by progerin (nuclear morphology and function, nucleolar activity, mitochondrial function, protein nucleocytoplasmic trafficking and telomere homeostasis), as well as discussion of the therapeutic strategies under development.

Rescue of Mitochondrial Function in Hutchinson-Gilford Progeria Syndrome by the Pharmacological Modulation of Exportin CRM1.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder caused by the expression of progerin, a mutant variant of Lamin A. Recently, HGPS studies have gained relevance because unraveling its underlying mechanism would help to understand physiological aging. We previously reported that the CRM1-mediated nuclear protein export pathway is exacerbated in HGPS cells, provoking the mislocalization of numerous protein targets of CRM1. We showed that normalization of this mechanism by pharmacologically inhibiting CRM1 with LMB (specific CRM1 inhibitor), mitigates the senescent phenotype of HGPS cells. Since mitochondrial dysfunction is a hallmark of HGPS, in this study we analyze the effect of LMB on mitochondrial function. Remarkably, LMB treatment induced the recovery of mitochondrial function in HGPS cells, as shown by the improvement in mitochondrial morphology, mitochondrial membrane potential, and ATP levels, which consequently impeded the accumulation of ROS but not mitochondrial superoxide. We provide evidence that the beneficial effect of LMB is mechanistically based on a combinatory effect on mitochondrial biogenesis via upregulation of PGC-1α expression (master transcription cofactor of mitochondrial genes), and mitophagy through the recovery of lysosomal content. The use of exportin CRM1 inhibitors constitutes a promising strategy to treat HGPS and other diseases characterized by mitochondrial impairment.

Modelling premature cardiac aging with induced pluripotent stem cells from a hutchinson-gilford Progeria Syndrome patient.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that causes accelerated aging and a high risk of cardiovascular complications. However, the underlying mechanisms of cardiac complications of this syndrome are not fully understood. This study modeled HGPS using cardiomyocytes (CM) derived from induced pluripotent stem cells (iPSC) derived from a patient with HGPS and characterized the biophysical, morphological, and molecular changes found in these CM compared to CM derived from a healthy donor. Electrophysiological recordings suggest that the HGPS-CM was functional and had normal electrophysiological properties. Electron tomography showed nuclear morphology alteration, and the 3D reconstruction of electron tomography images suggests structural abnormalities in HGPS-CM mitochondria, however, there was no difference in mitochondrial content as measured by Mitotracker. Immunofluorescence indicates nuclear morphological alteration and confirms the presence of Troponin T. Telomere length was measured using qRT-PCR, and no difference was found in the CM from HGPS when compared to the control. Proteomic analysis was carried out in a high-resolution system using Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS). The proteomics data show distinct group separations and protein expression differences between HGPS and control-CM, highlighting changes in ribosomal, TCA cycle, and amino acid biosynthesis, among other modifications. Our findings show that iPSC-derived cardiomyocytes from a Progeria Syndrome patient have significant changes in mitochondrial morphology and protein expression, implying novel mechanisms underlying premature cardiac aging.

Síndrome de Progeria Hutchinson-Gilford

El Síndrome de Progeria de Hutchinson- Gilford es una enfermedad que se caracteriza por el envejecimiento prematuro en niños, debido a una mutación en el gen de Lámina tipo A involucrado en la mitosis celular. En el presente trabajo, con el objetivo de dar difusión al conocimiento de esta enfermedad, se señalan los procesos involucrados en su desarrollo, así como los avances científicos y el alcance de nuevas ventanas terapéuticas. La revisión se realizó consultando artículos en español e inglés empleando los motores de búsqueda Pubmed y Google Académico. La actualización del personal de salud sobre las enfermedades genéticas congénitas es de vital importancia para mejorar su detección, atención y manejo.

Hutchinson-Gilford Progeria Syndrome is a disease characterized by premature aging in children, due to a mutation in the Lamina type A, gene involved in cellular mitosis. In the present work, with the aim of spreading the knowledge of this disease, the processes involved in its development, the scientific advances, and the scope of new therapeutic treatments were summarized. The review was carried out by consulting articles in Spanish and English using the Pubmed and Google Academic search engines. The updating of health personnel on congenital genetic diseases is of vital importance to improve their detection, care and management.

A Síndrome de Hutchinson-Gilford Progeria é uma doença caracterizada pelo envelhecimento prematuro em crianças, devido a uma mutação no gene lamina tipo A envolvido na mitose celular. No presente trabalho, como objetivo de divulgar o conhecimento desta doença, são indicados os processos envolvidos no seu desenvolvimento, bem como os avanços científicos e o âmbito de novas janelas terapêuticas. A análise foi realizada através da consulta de artigos em espanhol e inglês utilizando os motores de busca pubmed e Google Scholar. A atualização do pessoal de saúde sobre doenças genéticas congénitas é de importância vital para melhorar a sua deteção, cuidados e gestão.

Oral manifestations and craniofacial characteristics of hutchinson-gilford progeria syndrome: a case report

Introduction: Hutchinson-Guilford progeria syndrome (HGPS) is a rare genetic disease with a characteristic phenotype of premature aging in young children caused by a mutation in the LMNA gene and consequent accumulation of progerinin the cell. Aim: Describe oral manifestations of Hutchinson-Guilford progeria syndrome. Case Report: This is a case report of a six-year-old female patient with Hutchinson-Guilford Progeria syndrome. The physical examination revealed skin atrophy, lipodystrophy, hair rarefaction, prominent blood vessels of the scalp, craniofacial disproportion, perioral cyanosis and enlarged knee joints. The intraoral exam revealed limited mouth opening, mixed dentition with normal tooth anatomy and anteroinferior crowding. The eruption sequence and chronology were abnormal. The treatment plan included professional prophylaxis, the topical application of fluoride as well as both oral hygiene and dietary counselling. Monitoring the development of dentition and an early and timely dental intervention contributed to the maintenance of child's oral health. Conclusion: Early clinical and educational interventions can help patients with HGPS maintain adequate oral health status and improve their quality of life.

Introdução: A Progéria ou Síndrome de Hutchinson-Guilford (HGPS) é uma doença genética rara com um fenótipo característico de envelhecimento precoce em crianças pequenas, causado por uma mutação no gene LMNA e conseqüente acúmulo de progerina na célula. Objetivo: Descrever as manifestações orais da Síndrome de Hutchinson-Guilford. Relato do Caso: Este é um relato de caso de uma paciente de seis anos com Síndrome de Hutchinson-Guilford. O exame físico revelou atrofia da pele, lipodistrofia, rarefação dos cabelos, vasos sangüíneos proeminentes no couro cabeludo, desproporção craniofacial, cianose perioral e aumento das articulações dos joelhos. O exame intraoral revelou abertura bucal limitada, dentição mista com anatomia dentária normal e apinhamento ântero-inferior. A sequência e a cronologia de erupção estavam alteradas. O plano de tratamento incluiu profilaxia profissional, aplicação tópica de flúor, bem como orientação de higiene bucal e aconselhamento dietético. O acompanhamento do desenvolvimento da dentição e a intervenção odontológica precoce e oportuna colaboraram com a manutenção da saúde bucal da criança. Conclusão: Intervenções clínicas e educacionais precoces podem ajudar os pacientes com HGPS a manter um estado de saúde bucal adequado e melhorar sua qualidade de vida.

Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare congenital disease caused by mutations in the LMNA gene. Children with HGPS are phenotypically characterized by lipodystrophy, short height, low body weight, scleroderma, reduced joint mobility, osteolysis, senile facial features, and cardiovascular compromise that usually lead to death. We aimed to describe the case of a patient who reached above-average age expectancy for children with HGPS in Latin America and describe the clinical and molecular characteristics of the patient. A 14-year-old female patient was presented with progeria-compatible phenotypic characteristics. HGPS was confirmed via LMNA gene sequencing that detected a heterozygous c.1824C>T (p.Gly608Gly) mutation. The primary aim is to describe the HGPS case, the molecular gene mutation finding, and make a short review of the limited available treatment options for children with HGPS. Such as the farnesyl transferase inhibitors in conjunction with other pharmacological therapies that have insinuated improvement in health, and survival rate.

[Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report]. / Anestesia para cesárea em gestante com síndrome de Cockayne: relato de caso.

Cockayne syndrome is an autosomal recessive multi-systemic disorder due to DNA repair failure. It was originally described in 1936 in children of small stature, retinal atrophy and deafness, characterized by dwarfism, cachexia, photosensitivity, premature aging and neurologic deficits. The most typical feature is described as birdlike facies: protruding maxilla, facial lipoatrophy, sunken eyes, large ears and thin nose. Difficult airway management with subglottic stenosis and risk of gastric content aspiration has been described. Although the clinical characteristics of Cockayne syndrome have been well described in pediatric publications, there is only one report in the literature on anesthesia for an obstetric patient. We report the case of a pregnant patient diagnosed with Cockayne syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn.

Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report / Anestesia para cesárea em gestante com síndrome de Cockayne: relato de caso

Abstract Cockayne syndrome is an autosomal recessive multi-systemic disorder due to DNA repair failure. It was originally described in 1936 in children of small stature, retinal atrophy and deafness, characterized by dwarfism, cachexia, photosensitivity, premature aging and neurologic deficits. The most typical feature is described as birdlike facies: protruding maxilla, facial lipoatrophy, sunken eyes, large ears and thin nose. Difficult airway management with subglottic stenosis and risk of gastric content aspiration has been described. Although the clinical characteristics of Cockayne syndrome have been well described in pediatric publications, there is only one report in the literature on anesthesia for an obstetric patient. We report the case of a pregnant patient diagnosed with Cockayne syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn.

Resumo A síndrome de Cockayne é doença multissistêmica autossômica recessiva devido à falha no reparo do DNA. Originalmente descrita em 1936 em crianças com baixa estatura, atrofia retiniana e surdez, é caracterizada por nanismo, caquexia, fotossensibilidade, envelhecimento acelerado e déficits neurológicos. O mais típico é a fácies, descrita como similar à de um pássaro: maxila proeminente, atrofia do coxim adiposo bucal, olhos profundos, orelhas grandes e nariz fino. Tem sido descrita dificuldade no manejo da via aérea com estreitamento subglótico e risco de aspiração gástrica. Embora as características clínicas da síndrome de Cockayne sejam bem relatadas em publicações pediátricas, há apenas um relato de anestesia em paciente obstétrica na literatura. Relatamos o caso de gestante com diagnóstico de síndrome de Cockayne, submetida com sucesso a raquianestesia para parto cesariano por desproporção cefalopélvica. Diante da difícil decisão entre induzir anestesia geral em paciente com provável via aérea difícil ou anestesia neuroaxial, em meio a limitações cardiovasculares, respiratórias e neurocognitivas da paciente, conduta individualizada é sugerida para alcançar os melhores resultados para a gestante e o neonato.

Enhanced nuclear protein export in premature aging and rescue of the progeria phenotype by modulation of CRM1 activity.

The study of Hutchinson-Gilford progeria syndrome (HGPS) has provided important clues to decipher mechanisms underlying aging. Progerin, a mutant lamin A, disrupts nuclear envelope structure/function, with further impairment of multiple processes that culminate in senescence. Here, we demonstrate that the nuclear protein export pathway is exacerbated in HGPS, due to progerin-driven overexpression of CRM1, thereby disturbing nucleocytoplasmic partitioning of CRM1-target proteins. Enhanced nuclear export is central in HGPS, since pharmacological inhibition of CRM1 alleviates all aging hallmarks analyzed, including senescent cellular morphology, lamin B1 downregulation, loss of heterochromatin, nuclear morphology defects, and expanded nucleoli. Exogenous overexpression of CRM1 on the other hand recapitulates the HGPS cellular phenotype in normal fibroblasts. CRM1 levels/activity increases with age in fibroblasts from healthy donors, indicating that altered nuclear export is a common hallmark of pathological and physiological aging. Collectively, our findings provide novel insights into HGPS pathophysiology, identifying CRM1 as potential therapeutic target in HGPS.

Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile.

We report the first case of mandibuloacral dysplasia with type B lipodystrophy (MADB) in Chile, South America. MADB is a very rare illness, characterized by short stature, mandibular hypoplasia, acro-osteolysis in hands, feet and clavicles, lipodystrophy, changes in skin pigments and skin calcinosis at knees and hands. Diagnosis was confirmed by molecular study that showed two compound heterozygous variants in ZMPSTE24 gene, c.1085dup p.(Leu362Phefs*19) and c.794A>G p.(Asn265Ser). This article could help in establishing the correlation between genotype and phenotype of this disorder, comparing with other cases previously described.

Do you know this syndrome? Werner syndrome

Abstract: Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life. Since the patients usually die by the age of 40-50 years related to malignant neoplasms or atherosclerotic complications, they should be closely followed and treated for complications

Síndrome de Werner: a propósito de un caso probable / Werner's syndrome, about a probable case

Resumen: el síndrome de Werner es una patología poco frecuente, de herencia autosómica recesiva, caracterizado por signos de envejecimiento prematuro y tendencia a desarrollar tumores malignos. El diagnóstico de esta enfermedad es principalmente clínico, con hallazgos predominantes como talla baja y envejecimiento precoz. En este artículo se presenta el caso de un paciente de 49 años de edad, con signos tempranos de envejecimiento desde los 15 años y ateroesclerosis temprana asociada, que lo lleva a amputación quirúrgica de extremidad inferior derecha. De acuerdo con los criterios diagnósticos del síndrome de Werner este es el primer caso probable en el suroccidente colombiano. (AU)

Abstract: Werner syndrome is a rare, autosomal recessive pathology, characterized by signs of premature aging and tendency to develop malignant tumors. The diagnosis is principally clinical, with predominating findings as short stature and precocious aging. In this article, it's presented the case of a 49-year-old patient with early signs of aging from the age of 15 years and associated early atherosclerosis that leads to the right lower limb surgical amputation. According to the diagnostic criteria of Werner syndrome, this is the first probable case in the Colombian Southwest. (AU)

Progeria:: enfermedad coronaria e insuficiencia cardíaca en paciente joven

La progeria es una enfermedad caracterizada por el envejecimiento prematuro en los primeros años de vida. El diagnóstico es fundamentalmente clínico y la supervivencia más allá de la adolescencia es inusual. En más del 80% de los casos la muerte se debe a complicaciones cardiovasculares. Se presenta el caso clínico de un paciente masculino de 26 años de edad, diagnosticado de progeria, que cursa internación por infarto agudo de miocardio ínfero-latero-dorsal con compromiso eléctrico y hemodinámico del ventrículo derecho. En resumen, los pacientes con progeria suelen presentarse con enfermedad coronaria a edades tempranas. Los registros de estos grupos de pacientes informan que la gran mayoría fallecen durante la adolescencia a causa de enfermedad coronaria. Mostramos un caso de un paciente joven con enfermedad coronaria severa que debuta con un infarto agudo de miocardio con resolución favorable.

Progeria: coronary artery disease and heart failure in a young patient Progeria is a disease characterized by premature aging in the first years of life. The diagnosis is essentially clinical and survival beyond adolescence is unusual. In over 80% of cases death due to cardiovascular complications. The case report of a male patient of 26 years old, diagnosed with progeria, coursing hospitalization for acute inferio-latero-dorsal myocardial infarction with electric and hemodynamic right ventricular involvement is presented. In summary, patients with progeria usually appear with coronary disease at early ages. The records of these groups of patients report that the vast majority die during adolescence due to coronary disease. We report a case of a young patient with severe coronary artery disease who presents with an acute myocardial infarction with favorable resolution.

Progeria: doença arterial coronariana e insuficiência cardíaca em um paciente jovem Progeria é uma doença caracterizada pelo envelhecimento prematuro nos primeiros anos de vida. O diagnóstico é essencialmente clínico e sobrevivência além da adolescência é incomum. Em mais de 80% dos casos de morte devido a complicações cardiovasculares. É apresentado um caso clínico de um paciente do sexo masculino de 26 anos, diagnosticado com progeria, correndo hospitalização por infarto agudo do miocárdico ínfero-látero-dorsal com comprometimento elétrico e hemodinâmico do ventrículo direito. Em resumo, os pacientes com progeria geralmente aparecem com doença coronariana em idades precoces. Os registros desses grupos de pacientes relatam que a grande maioria morre durante a adolescência devido a doença coronária. Relatamos o caso de um jovem paciente com doença arterial coronariana grave, que debuta com um infarto agudo do miocárdio com resolução favorável.

Progeria:: enfermedad coronaria e insuficiencia cardíaca en paciente joven

La progeria es una enfermedad caracterizada por el envejecimiento prematuro en los primeros años de vida. El diagnóstico es fundamentalmente clínico y la supervivencia más allá de la adolescencia es inusual. En más del 80% de los casos la muerte se debe a complicaciones cardiovasculares. Se presenta el caso clínico de un paciente masculino de 26 años de edad, diagnosticado de progeria, que cursa internación por infarto agudo de miocardio ínfero-latero-dorsal con compromiso eléctrico y hemodinámico del ventrículo derecho. En resumen, los pacientes con progeria suelen presentarse con enfermedad coronaria a edades tempranas. Los registros de estos grupos de pacientes informan que la gran mayoría fallecen durante la adolescencia a causa de enfermedad coronaria. Mostramos un caso de un paciente joven con enfermedad coronaria severa que debuta con un infarto agudo de miocardio con resolución favorable.(AU)

Progeria: coronary artery disease and heart failure in a young patient Progeria is a disease characterized by premature aging in the first years of life. The diagnosis is essentially clinical and survival beyond adolescence is unusual. In over 80% of cases death due to cardiovascular complications. The case report of a male patient of 26 years old, diagnosed with progeria, coursing hospitalization for acute inferio-latero-dorsal myocardial infarction with electric and hemodynamic right ventricular involvement is presented. In summary, patients with progeria usually appear with coronary disease at early ages. The records of these groups of patients report that the vast majority die during adolescence due to coronary disease. We report a case of a young patient with severe coronary artery disease who presents with an acute myocardial infarction with favorable resolution.(AU)

Progeria: doenþa arterial coronariana e insuficiÛncia cardíaca em um paciente jovem Progeria é uma doenþa caracterizada pelo envelhecimento prematuro nos primeiros anos de vida. O diagnóstico é essencialmente clínico e sobrevivÛncia além da adolescÛncia é incomum. Em mais de 80% dos casos de morte devido a complicaþ§es cardiovasculares. E apresentado um caso clínico de um paciente do sexo masculino de 26 anos, diagnosticado com progeria, correndo hospitalizaþÒo por infarto agudo do miocárdico ínfero-látero-dorsal com comprometimento elétrico e hemodinÔmico do ventrículo direito. Em resumo, os pacientes com progeria geralmente aparecem com doenþa coronariana em idades precoces. Os registros desses grupos de pacientes relatam que a grande maioria morre durante a adolescÛncia devido a doenþa coronária. Relatamos o caso de um jovem paciente com doenþa arterial coronariana grave, que debuta com um infarto agudo do miocárdio com resoluþÒo favorável.(AU)

Estudio del envejecimiento con un modelo celular del síndrome de progeria de Hutchinson-Gilford / Study of the agening with a cellular model of Hutchinson-Gilford progeria syndrome

Se presenta en forma resumida los principales hallazgos del trabajo de Liu y col (1), investigadores del Instituto Salk, California, publicado en abril de 2011, donde se describe un modelo celular in vitro del síndrome de progeria de Hutchison-Gilford (SPHG), basado en células madre pluripotentes inducidas po reprogramación de fibroblastos. Tiene gran interés porque ofrece la posibilidad de estudiar la fisiopatología de las enfermedades que cursan con envejecimiento rápido, prematuro y ayudar a compreder mejor los procesos de envejecimiento que ocurren en la población humana general. Se incluye información básica relacionada con la progeria

A summary of the main findings published in April 2011 by Liu et al (1), researchers at the Salk Institute, California, where a cellular in vitro model of Hutchinson-Gilford progeria syndrome (HGPS) was described based on induced pluripotent stem cells derived from reprogrammed fibroblasts. It is of great interest because it allows the study of the pathogenesis of premature, rapid aging and helps understand ageing of the general human population. Basic information about progeria is included

Você conhece esta síndrome? / Do you know this syndrome?

A Síndrome de Huntchinson-Gilford (Progeria) é uma rara doença autossômica dominante, caracterizada pelo envelhecimento precoce. Relata-se caso de uma criança, que aos 6 meses iniciou alopecia na região occipital e placas esclerodermiformes no abdome. Esta síndrome apresenta alterações em vários órgãos e sistemas como a pele, esquelético e sistema cardiovascular. O diagnóstico é clínico e não possui tratamento, porém seu reconhecimento é necessário para minimizar a aterosclerose precoce através do controle da dislipidemia.

Huntchinson-Gilford Syndrome (Progeria) is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems. The diagnosis is clinical and there is no treatment for it but recognition is necessary to minimize early atherosclerosis through the control of dyslipidemia.