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1.
Allergol. immunopatol ; 47(2): 141-151, mar.-abr. 2019. tab
Artigo em Inglês | IBECS | ID: ibc-180802

RESUMO

Background: The del22q11 syndrome patients present immunological abnormalities associated to thymus alterations. Up to 75% of them present cardiopathies and thymus is frequently removed during surgery. The thymectomy per se has a deleterious effect concerning lymphocyte subpopulations, and T cell function. When compared to healthy controls, these patients have higher infections propensity of variable severity. The factors behind these variations are unknown. We compared immunological profiles of del22q11.2 Syndrome patients with and without thymectomy to establish its effect in the immune profile. Methods: Forty-six del22q11.2 syndrome patients from 1 to 16 years old, 19 of them with partial or total thymectomy were included. Heart disease type, heart surgery, infections events and thymus resection were identified. Immunoglobulin levels, flow cytometry for lymphocytes subpopulations and TREC levels were determined, and statistical analyses were performed. Results: The thymectomy group had a lower lymphocyte index, both regarding total cell count and when comparing age-adjusted Z scores. Also, CD3+, CD4+ and CD8+ lower levels were observed in this group, the lowest count in those patients who had undergone thymus resection during the first year of life. Their TREC level median was 23.6/μL vs 16.1 miL in the non-thymus group (p = 0.22). No differences were identified regarding immunoglobulin levels or infection events frequencies over the previous year. Conclusion: Patients with del22q11.2 syndrome subjected to thymus resection present lower lymphocyte and TREC indexes when compared to patients without thymectomy. This situation may be influenced by the age at the surgery and the time elapsed since the procedure


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Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Linfócitos T/fisiologia , Subpopulações de Linfócitos T/fisiologia , Timectomia/métodos , Timo/cirurgia , Cromossomos Humanos Par 22/imunologia , Deleção Cromossômica , Citometria de Fluxo , Receptores de Antígenos de Linfócitos T/genética
2.
Artigo em Inglês | MEDLINE | ID: mdl-30292446

RESUMO

BACKGROUND: The del22q11 syndrome patients present immunological abnormalities associated to thymus alterations. Up to 75% of them present cardiopathies and thymus is frequently removed during surgery. The thymectomy per se has a deleterious effect concerning lymphocyte subpopulations, and T cell function. When compared to healthy controls, these patients have higher infections propensity of variable severity. The factors behind these variations are unknown. We compared immunological profiles of del22q11.2 Syndrome patients with and without thymectomy to establish its effect in the immune profile. METHODS: Forty-six del22q11.2 syndrome patients from 1 to 16 years old, 19 of them with partial or total thymectomy were included. Heart disease type, heart surgery, infections events and thymus resection were identified. Immunoglobulin levels, flow cytometry for lymphocytes subpopulations and TREC levels were determined, and statistical analyses were performed. RESULTS: The thymectomy group had a lower lymphocyte index, both regarding total cell count and when comparing age-adjusted Z scores. Also, CD3+, CD4+ and CD8+ lower levels were observed in this group, the lowest count in those patients who had undergone thymus resection during the first year of life. Their TREC level median was 23.6/µL vs 16.1µL in the non-thymus group (p=0.22). No differences were identified regarding immunoglobulin levels or infection events frequencies over the previous year. CONCLUSION: Patients with del22q11.2 syndrome subjected to thymus resection present lower lymphocyte and TREC indexes when compared to patients without thymectomy. This situation may be influenced by the age at the surgery and the time elapsed since the procedure.

3.
Pediatr Cardiol ; 38(5): 991-1003, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28382463

RESUMO

Complex congenital heart disease (CHD) affects cardiac blood flow, generating a pressure overload in the compromised ventricles and provoking hypertrophy that over time will induce myocardial dysfunction and cause a potential risk of imminent death. Therefore, the early diagnosis of complex CHD is paramount during the first year of life, with surgical treatment of patients favoring survival. In the present study, we analyzed cardiac tissue and plasma of children with cardiac hypertrophy (CH) secondary to CHD for the expression of 11 miRNAs specific to CH in adults. The results were compared with the miRNA expression patterns in tissue and blood of healthy children. In this way, we determined that miRNAs 1, 18b, 21, 23b, 133a, 195, and 208b constitute the expression profile of the cardiac tissue of children with CHD. Meanwhile, miRNAs 21, 23a, 23b, and 24 can be considered specific biomarkers for the diagnosis of CH in infants with CHD. These results suggest that CH secondary to CHD in children differs in its mechanism from that described for adult hypertrophy, offering a new perspective to study the development of this pathology and to determine the potential of hypertrophic miRNAs to be biomarkers for early CH.


Assuntos
Cardiomegalia/genética , Cardiopatias Congênitas/genética , MicroRNAs/genética , Biomarcadores/análise , Biópsia , Criança , Pré-Escolar , Feminino , Cardiopatias Congênitas/complicações , Ventrículos do Coração/patologia , Humanos , Lactente , Recém-Nascido , Masculino , MicroRNAs/análise , Transcriptoma
4.
Int J Cardiol Heart Vasc ; 7: 131-140, 2015 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-28785661

RESUMO

The main objective of this study was to create a postnatal model for cardiac hypertrophy (CH), in order to explain the mechanisms that are present in childhood cardiac hypertrophy. Five days after implantation, intraperitoneal (IP) isoproterenol (ISO) was injected for 7 days to pregnant female mice. The fetuses were obtained at 15, 17 and 19 dpc from both groups, also newborns (NB), neonates (7-15 days) and young adults (6 weeks of age). Histopathological exams were done on the hearts. Immunohistochemistry and western blot demonstrated GATA4 and PCNA protein expression, qPCR real time the mRNA of adrenergic receptors (α-AR and ß-AR), alpha and beta myosins (α-MHC, ß-MHC) and GATA4. After the administration of ISO, there was no change in the number of offsprings. We observed significant structural changes in the size of the offspring hearts. Morphometric analysis revealed an increase in the size of the left ventricular wall and interventricular septum (IVS). Histopathological analysis demonstrated loss of cellular compaction and presence of left ventricular small fibrous foci after birth. Adrenergic receptors might be responsible for changing a physiological into a pathological hypertrophy. However GATA4 seemed to be the determining factor in the pathology. A new animal model was established for the study of pathologic CH in early postnatal stages.

5.
Case Rep Genet ; 2013: 895259, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24151567

RESUMO

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%-75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13)(q26.2;p11.2). As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

6.
Genet Couns ; 21(4): 363-73, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21290965

RESUMO

We describe a patient who had multiple malformations including ventriculomegaly, colpocephaly, corpus callosum, cerebellum and vermix hypoplasia, optic nerve hypoplasia, corneal opacity and congenital heart disease in whom a trisomy 1q32-qter and monosomy 5p derived from a t(1;5)mat was diagnosed by karyotype and FISH analysis. This trisomy/monosomy association has not been previously reported. The familial analysis of the translocation was carried out in four generations and its implications on the phenotype of the patient and genetic counseling are discussed.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 5 , Síndrome do Miado do Gato/genética , Translocação Genética/genética , Trissomia , Feminino , Humanos , Recém-Nascido , Linhagem , Fenótipo
7.
Ginecol Obstet Mex ; 69: 399-405, 2001 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-11816528

RESUMO

INTRODUCTION: Maternal diabetes mellitus affects approximately 5% of all pregnancies. Pregestational diabetes mellitus has been associated with a high risk of spontaneous abortions and congenital malformations during the first trimester of pregnancy then is considered teratogenic. This frequency of birth defects is three to fivefold increased compared with general population. Although an association of gestational diabetes mellitus (GDM) with an increase of congenital malformations has not been demonstrated, some clinical and epidemiological studies of this possible association have reported the presence of GDM in mothers of children with congenital malformations. THE OBJECTIVE: Of this study was to compare the prevalence of congenital malformations associated with GDM in relation to pregestational diabetes mellitus and general population. MATERIALS AND METHODS: In the present study 3 groups were compared: the group I was integrated by 112 new born of mothers with GDM; in the group 2, there were 30 new born from women with gestational diabetes mellitus. 103 new born from healthy women integrated the group 3. All patients were recruited consecutively during a period of 18 months. RESULTS: A total of 24 cases with congenital malformations were detected. The group with the higher prevalence was the group 2 (30%). We found a tendency to a higher risk of congenital malformations on the cases exposed to GDM (group 1) compared with the group not exposed (group 3). The analysis of the mothers background of the children from group 2 with congenital malformations showed a significant difference in the antecedent of previous macrosomic product in comparison with the antecedents of the mothers of the same group that bear healthy babies. COMMENT: The results of the analysis in the studied population did not show an association between GDM and congenital malformations, although there is a tendency to a higher prevalence in comparison with not exposed population. This could be due to the heterogeneity of the GDM; an entity usually detected late in pregnancy, but probably present since the first weeks of gestation when the teratogenic effect could occur. CONCLUSION: In the present study we found that the antecedent of previous macrosomic products is an important risk factor, therefore, such women require a close vigilance of the glucose levels before and during the first weeks of pregnancy in order to prevent congenital malformations, one of the principal causes of death in the new born.


Assuntos
Anormalidades Congênitas/etiologia , Diabetes Gestacional , Adulto , Anormalidades Congênitas/epidemiologia , Feminino , Humanos , Recém-Nascido , Gravidez , Prevalência
8.
Am J Med Genet ; 94(5): 421-7, 2000 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-11050630

RESUMO

Cantú syndrome (CS) is characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial appearance; autosomal recessive inheritance has been postulated. We report on a Mexican family with CS; the affected members are the 44-year-old father and his two children (a male and female), aged 14 and 4 years, respectively; each shows the classic characteristics, but the father and the brother also have a previously unreported feature, namely, a thick calvarium. This is the first reported instance of male-to-male transmission of CS. With the paternal age effect found in the reported sporadic cases and the segregation analysis [Robertson et al., 1999], autosomal dominant inheritance is more likely than autosomal recessive inheritance. The cases of affected sibs reported by Cantú et al. [1982] could be explained by parental gonadal mosaicism.


Assuntos
Cardiomegalia/patologia , Genes Dominantes , Hipertricose/patologia , Osteocondrodisplasias/patologia , Adolescente , Adulto , Cardiomegalia/genética , Pré-Escolar , Saúde da Família , Feminino , Humanos , Hipertricose/congênito , Hipertricose/genética , Masculino , Osteocondrodisplasias/genética , Linhagem
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