ABSTRACT
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
Subject(s)
Humans , Stem Cells/radiation effects , Cellular Senescence/physiology , Progeria/diagnosisABSTRACT
Werner's syndrome is a rare inherited disorder characterized by short stature, sclerosed skin, cataract and premature aging of the face. The disease involves multiple systems of the body and some of the abnormalities may cause life threatening complications such as myocardial infarction and malignancy. We report a case of this rare disorder
Subject(s)
Humans , Male , Adult , Werner Syndrome/complications , Werner Syndrome/genetics , Progeria/diagnosis , Cockayne Syndrome/diagnosis , Aging, Premature/diagnosisABSTRACT
Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. This abnormal appearance began at age of 1 yr. On serological and hormonal evaluation, all values are within normal range. He was neurologically intact with motor and mental development. An echocardiogram showed calcification of aortic and mitral valves. Hypertrophy of internal layer at internal carotid artery suggesting atherosclerosis was found by carotid doppler sonography. He is on low dose aspirin to prevent thromboembolic episodes and on regular follow up. Gene study showed typical G608G (GGC- > GGT) point mutation at exon 11 in LMNA gene. This is a rare case of Hutchinson-Gilford progeria syndrome confirmed by genetic analysis in Korea.
Subject(s)
Child, Preschool , Humans , Male , Lamin Type A/genetics , Point Mutation , Progeria/diagnosis , Prognosis , Republic of KoreaABSTRACT
Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke. A 30-year-old male with clinical and radiologic features highly suggestive of HGPS is presented here with description of differential diagnosis, dental considerations and review of literature.
Subject(s)
Adult , Anodontia/diagnosis , Cranial Sutures/abnormalities , Craniofacial Abnormalities/diagnosis , Diagnosis, Differential , Frontal Bone/abnormalities , Humans , Male , Mandible/abnormalities , Mandibular Condyle/abnormalities , Nose/abnormalities , Parietal Bone/abnormalities , Progeria/diagnosisABSTRACT
Las alteraciones ungueales en los niños representan un número de consultas no despreciable tanto en atención primaria y pediatría como en dermatología. Algunas alteraciones son idénticas a las de los adultos, pero existen otras que son características de esta etapa de la vida y que nos pueden ayudar en el diagnóstico. En este resumen describimos las principales alteraciones ungueales en la infancia
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Nail Diseases/diagnosis , Ectodermal Dysplasia/diagnosis , Dyskeratosis Congenita/diagnosis , Nail Diseases/congenital , Progeria/diagnosis , Skin Diseases, Infectious/diagnosis , Skin Diseases/complications , Nails/embryologyABSTRACT
We report an Indian patient with mandibulo-acral dysplasia. This patient had absence of spinous processes of 4th and 5th cervical vertebrae and very severe bony changes but no loss of teeth.
Subject(s)
Adult , Chromosome Aberrations/genetics , Chromosome Disorders , Foot Deformities, Congenital/diagnosis , Genes, Recessive/genetics , Hand Deformities, Congenital/diagnosis , Humans , Male , Mandible/abnormalities , Micrognathism/diagnosis , Progeria/diagnosis , SyndromeABSTRACT
Introducción. La displasia mandíbulo acral (DMA) es una rara enfermedad autosómica recesiva, originalmente descrita en 1917. A la fecha se han descrito aproximadamente 20 casos, de los cuales la mayoría son de origen italiano. Caso clínico. Se presenta al primer paciente pediátrico mexicano comparando los hallazgos clínicos y radiológicos de este caso con los encontrados en la literatura y con las entidades que deben considerarse en el diagnóstico diferencial tales como: progeria, acrogeria, displasia cleidocraneal, picnodisostosis, Hallerman-Streiff, Hadju-Cheney síndrome de Werner. Conclusiones. Aunque la DMA tiene una frecuencia baja, en la práctica debe considerarse esta entidad en aquellos pacientes con hipoplasia mandibular o alteraciones dermatológicas como hiperpigmentación moteada
Subject(s)
Humans , Male , Child , Abnormalities, Multiple/diagnosis , Bone Diseases, Developmental , Clavicle/abnormalities , Mandible/abnormalities , Osteolysis/diagnosis , Cleidocranial Dysplasia/diagnosis , Diagnosis, Differential , Progeria/diagnosisABSTRACT
Hutchinson-Gilford progeria syndrome is an extremely rare condition of premature aging. It is characterized by growth retardation and accelerated degenerative changes of cutaneous, musculoskeletal and cardiovascular systems. The pathogenesis of the disease is unknown. The patients usually appear normal at birth. Typical manifestations develop gradually and are evident by the first or second year of life. They have a remarkably similar physical appearance consisting of short stature, alopecia, craniofacial disproportion, micrognathia, hypoplastic mandible, beak-like nose, decreased subcutaneous fat, atrophic skin, sclerodermoid lesion, mottling hyperpigmentation, prominent scalp veins, prominent eyes, protruding ears with absence of earlobes, faint midfacial cyanosis, delayed closure of fontanelles and sutures, delayed dentition, horse-riding stance, thin limbs with prominent stiff joints, coxa valga, skeletal hypoplasia and dysplasia, dystrophic nails and high-pitched voice. Laboratory investigations are unremarkable. Metabolic, endocrine, serum lipid and immunologic studies show no uniform abnormalities. Typical radiographs demonstrate evidence of resorption of the distal ends of clavicles, attenuation of the terminal phalanges, diffuse osteopenia, and fishmouth vertebral bodies. In this report, a 3-year-old Thai girl with typical characteristics of Hutchinson-Gilford progeria syndrome is described.
Subject(s)
Child, Preschool , Female , Humans , Progeria/diagnosisABSTRACT
Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare condition originally described by Hutchinson in 1886. Death results from cardiac complications in the majority of cases and usually occurs at an average age of fourteen years. We recently experienced a patient with progeria who died suddenly after symptomatic improvement with conservative treatment. A Doppler and two-dimensional echocardiographic study revealed an enlarged and hypertrophied left ventricle with reduced global systolic function and senile aortic calcific stenosis (peak systolic pressure gradient: 50 mmHg) with a moderate degree of aortic regurgitation. Doppler findings of restrictive hemodynamic suggest severe left ventricular dysfunction due to multiple influences from the aging process, coronary artery and valvular heart disease
Subject(s)
Adult , Humans , Male , Cardiovascular System/diagnostic imaging , Coronary Angiography , Echocardiography , Echocardiography, Doppler , Cardiac Catheterization , Progeria/diagnosisABSTRACT
Hemos podido estudiar un paciente que por los caracteres clínicos, morfológicos, genéticos creemos corresponde a una progeria. Destacamos los detalles en que basamos nuestro diagnóstico y aquellos elementos negativos que permiten separarlo del síndrome de Hallermann-Streiff