RESUMO
Deep second and third degree burns treatment requires fibroblasts, keratinocytes and other skin cells in order to grow new dermis and epidermis. Cells can proliferate, secrete growth factors and extracellular matrix required to repair the damaged tissue. Radiosterilized human amnion and radiosterilized pig skin have been used as natural origin skin dressings for burned patients. Adipose-derived mesenchymal stem cells can differentiate into fibroblasts and keratinocytes and improve wound-healing progress. These cells can stimulate vascular tissue formation, release growth factors, synthetize new extracellular matrix and immunoregulate other cells. In this study, we developed mesenchymal stem cells-cellularized skin substitutes based from radiosterilized human amnion or pig skin. Third-degree burns were induced in mice animal models to evaluate the effect of cellularized skin substitutes on burn wound healing. Mesenchymal phenotype was immunophenotypically confirmed by flow cytometry and cell viability was close to 100%. Skin recovery was evaluated in burned mice after seven and fourteen days post-coverage with cellularized and non-cellularized sustitutes. Histological techniques and immunofluorescence were used to evaluate re-epithelization and type I collagen deposition. We determined that cellularized-human amnion or cellularized-pig skin in combination with mesenchymal stem cells improve extracellular matrix deposition. Both cellularized constructs increase detection of type I collagen in newly formed mouse skin and can be potentially used as skin coverage for further clinical treatment of burned patients.
RESUMO
Genetic syndromes that mimic congenital infection are important to recognize because of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clinical features suggestive of intrauterine infection but with negative serologic investigations. Our observations suggest that Aicardi-Goutieres syndrome (AGS) and pseudo-TORCH syndrome likely represent the same disorder.
Assuntos
Anormalidades Craniofaciais/genética , Adulto , Criança , Anormalidades Craniofaciais/patologia , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Fenótipo , SíndromeRESUMO
Knowledge about transplants in Mexico goes back to the Aztec period. Today the need for organ and tissue transplants in Mexico is high; the estimated number is 100,000 patients, but there are only 2 donors per million population, for corneas. The organ, tissue and cell transplantation law which was modified in 2,000, establishes that when a person dies, he will be a potential donor of organs and tissues. This new law will give hope to many patients, since it is expected to increase significantly the amount of organs and tissues for transplants. At present Mexico has 178 hospitals that are authorized to carry out organ and tissue transplants, and 53 Tissue Banks.
RESUMO
This work includes all cases with extra digits (polydactyly) registered from a birth sample of over four million births aggregated from two comparable birth series: the Latin-American Collaborative Study of Congenital Malformations: ECLAMC (3,128,957 live and still births from the 1967 to 1993 period), and the Spanish Collaborative Study of Congenital Malformations: ECEMC (1,093,865 livebirths from April 1976 to September 1993, and 7,271 stillbirths from January 1980 to September 1993). All but 2 of 6,912 registered polydactyly cases fit well into one of the following 11 preestablished polydactyly types (observed number of cases in parentheses): Postaxial hexadactyly (5,345), Preaxial-I hexadactyly (1,018), Seven or more digits (57), synpolydactyly (15), crossed polydactyly (45), 1st digit triphalangism (33), 2nd digit duplication (39), 3rd digit duplication (18), 4th digit duplication (22), Haas polysyndactyly (3), and high degree of duplication (4). The birth prevalence rates observed in both series were similar except for postaxial polydactyly, which was more frequent in the ECLAMC (150.2/100,000) than in the ECEMC (67.4/100,000), as expected due to the higher African Black ethnic extraction of the South-American than of the Spanish populations. This similar frequency for the rare polydactylies (5.4 per 100,000 in South America and 5.7 in Spain), and for each one of the 9 categories, suggests that the values reported here are valid for most populations. The rare polydactylies are frequently syndromal: one third of them (77/236) were found in association with other congenital anomalies, 11.0% (26/236) in MCA cases and 21.6% (51/236) in recognized syndromes.
Assuntos
Dedos/anormalidades , Polidactilia , Dedos do Pé/anormalidades , Humanos , Polidactilia/classificação , Polidactilia/complicações , Polidactilia/genética , Polidactilia/fisiopatologiaRESUMO
Congenital "healed" cleft lip (CHCL) is an unusual anomaly including a paramedian "scar" of the upper lip, which appears as if a typical cleft lip has been corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion, and "collapsed" nostril. Twenty-five CHCL cases are presented, eighteen of which were an isolated malformation found among the 3,950,715 births examined in two similar birth defect registries: ECEMC in Spain and ECLAMC in Latin America. Like open cleft lip, of which it seems to be a variant, CHCL is most frequently seen among males (14/18 isolated cases), it preferentially affects the left side (10/18 cases), and it segregated together with cleft lip in one family. The five CHCL cases with other congenital anomalies included: two cases with hydrocephalus, two VACTERL associations, and one atypical oblique facial cleft infant with single umbilical artery. CHCL may result from a defective fusion of the frontonasal and maxillary processes (before week 7 of embryonic life), or from a spontaneously repaired open cleft lip, later on. In either way, these cases heal with a visible scar, and the pre-occurrence of CHCL in two families suggests a familial predisposition to this phenomenon.
Assuntos
Cicatriz/genética , Fenda Labial/epidemiologia , Fenda Labial/genética , Adulto , Estudos de Casos e Controles , Cicatriz/epidemiologia , Fissura Palatina/epidemiologia , Fissura Palatina/genética , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , PrevalênciaRESUMO
The distribution of anticonvulsant drug therapy was studied in 318 malformed infants with known histories of maternal epilepsy. Data on the infants was collected from six birth defect monitoring programs in Europe and South America. Use of specific types of anticonvulsants varies widely among reporting countries. Heterogeneity of drug-malformation distribution, was analyzed to determine whether use of specific drugs were linked to specific malformations. A significant association was seen between maternal use of valproic acid and spina bifida, and a weaker, non-significant one between carbamazepine and spina bifida. Facial clefts were associated with both diphenylhydantoin and phenobarbitone use and also with polytherapy. These differences indicate that the actual drug used is significant for the teratogenic process. The technique may be useful in analysis of other drug-related teratogenic questions.
Assuntos
Anormalidades Induzidas por Medicamentos/etiologia , Anticonvulsivantes/efeitos adversos , Epilepsia/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Anticonvulsivantes/uso terapêutico , Quimioterapia Combinada , Europa (Continente) , Feminino , Humanos , Recém-Nascido , Gravidez , Sistema de Registros , Fatores de Risco , América do SulRESUMO
Seven different limb malformations types were defined in 544 affected newborns, apparently free from other anomalies, obtained from a series of 297,299 livebirths. These seven malformation types were: polydactyly, limb reduction, brachydactyly, symphalangy, syndactyly and split hand/foot. One anomaly type was present in 472 newborns (1.58/1,000) and two or three in 72 (0.24/1,000). The observed combinations of two or three limb malformation types cannot be explained as chance association. Therefore, a common etiopathogenic mechanism has to be considered when two or more limb malformation types are combined in a given individual. The most frequent observed combinations were: reduction-brachydactyly, reduction-syndactyly, brachydactyly-syndactyly, polydactyly-syndactyly, and reduction-brachydactyly-syndactyly. Based on affected limb distribution, sex ratio, and familial recurrence rates, it is suggest that a reduction anomaly is the primary component in all tested combinations while syndactyly tends to be a secondary one when combined with any other limb anomaly type.