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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
3.
Environ Technol ; 38(13-14): 1792-1799, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27776443

RESUMO

The present research was aimed to (i) report the recycling of spent A. bisporus substrate (SAS) to remove heavy metals (Cd and Pb) and phenanthrene (Phe) from polluted water and (ii) assess the possibility to use the treated water for irrigation. Batch experiments were carried out to assess, firstly, the effect of interaction time between pollutants with SAS and, secondly, the pH of the polluted water. Then a biofilter was designed by using pressurized glass columns. Chemical parameters such as pH, electrical conductivity and content of Pb, Cd, Phe, nutrients (NPK) and Cl- were determined. Equilibrium for contaminants was quickly reached (1-2 h). The pH of the polluted water was the key factor for pollutants' adsorption. The polluted water's pH was increased after biofilter interaction. Phe was not detected in any fraction. Pb and Cd sorption rates were higher than 99%. The pollutant concentrations were within the permitted range to be used for agriculture purposes. Purified water showed significant concentrations of NPK, indicating its potential use as fertilizer. The SAS shows potential to be used as Phe, Pb and Cd biosorbent and the resulting treated water can be used for irrigation according to pollutant contents and agronomical evaluation.


Assuntos
Agaricus , Cádmio/química , Chumbo/química , Fenantrenos/química , Resíduos , Poluentes Químicos da Água/química , Adsorção , Agricultura , Concentração de Íons de Hidrogênio , Purificação da Água/métodos
4.
Genet Couns ; 25(3): 321-30, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25365855

RESUMO

Escobar syndrome (ES) or multiple pterygia syndrome (MIM#265000) is an infrequent condition characterized by facial dysmorphism, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies. We describe an 8-days-old male newborn from consanguineous parents with ES who also presented heterotaxia syndrome and esophageal atresia, anomalies that not have been previously reported as associated to ES.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Atresia Esofágica/diagnóstico , Atresia Esofágica/genética , Síndrome de Heterotaxia/diagnóstico , Síndrome de Heterotaxia/genética , Hipertermia Maligna/diagnóstico , Hipertermia Maligna/genética , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/genética , Anormalidades Múltiplas/patologia , Consanguinidade , Atresia Esofágica/patologia , Evolução Fatal , Feto/patologia , Genótipo , Síndrome de Heterotaxia/patologia , Humanos , Recém-Nascido , Cariotipagem , Masculino , Hipertermia Maligna/patologia , Linhagem , Fenótipo , Anormalidades da Pele/patologia
5.
Genet Couns ; 25(2): 189-95, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25059018

RESUMO

The Meier-Gorlin syndrome (MGS) or ear, patella, short stature syndrome (MIM #224690) is a rare disorder with bilateral microtia, aplasia or hypoplasia of the patellae and severe intra-uterine and post-natal growth retardation. We report the case of a 10-year-old male with MGS diagnosis, his parents were related, he also showed conductive hearing loss and maloclussion and long upper central incisors, more importantly he had asymmetry of the left cerebral hemisphere and ventricular system, his intelligence was normal. As far as we know, these abnormalities have not been previously described in patients with MGS and the present report corresponds to the first Mexican case described so far.


Assuntos
Anormalidades Múltiplas/patologia , Ventrículos Cerebrais/anormalidades , Orelha/anormalidades , Transtornos do Crescimento/patologia , Micrognatismo/patologia , Patela/anormalidades , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Criança , Microtia Congênita , Consanguinidade , Orelha/patologia , Orelha/fisiopatologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Humanos , Masculino , México , Micrognatismo/genética , Micrognatismo/fisiopatologia , Patela/patologia , Patela/fisiopatologia
6.
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.

7.
Environ Sci Pollut Res Int ; 20(12): 8690-9, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23716079

RESUMO

Bioremediation of mixed metal-organic soil pollution constitutes a difficult task in different ecosystems all around the world. The aims of this work are to determine the capacity of two spent mushroom substrates (Agaricus bisporus and Pleurotus ostreatus) to immobilize Cd and Pb, to assess the effect of these metals on laccase activity, and to determine the potential of spent A. bisporus substrate to biodegrade four polycyclic aromatic hydrocarbons (PAH): fluorene, phenanthrene, anthracene, and pyrene, when those toxic heavy metals Cd and Pb are present. According to adsorption isotherms, spent P. ostreatus and A. bisporus substrates showed a high Pb and Cd adsorption capacity. Pb and Cd interactions with crude laccase enzyme extracts from spent P. ostreatus and A. bisporus substrates showed Cd and Pb enzyme inhibition; however, laccase activity of A. bisporus presented lower inhibition. Spent A. bisporus substrate polluted with PAH and Cd or Pb was able to biodegrade PAH, although both metals decrease the biodegradation rate. Spent A. bisporus substrate contained a microbiological consortium able to oxidize PAH with high ionization potential. Cd and Pb were immobilized during the bioremediation process by spent A. bisporus substrate. Consequently, spent A. bisporus substrate was adequate as a multi-polluted soil bioremediator.


Assuntos
Agaricales/metabolismo , Cádmio/metabolismo , Chumbo/metabolismo , Hidrocarbonetos Policíclicos Aromáticos/metabolismo , Poluentes do Solo/metabolismo , Agaricales/crescimento & desenvolvimento , Agaricus/crescimento & desenvolvimento , Agaricus/metabolismo , Biodegradação Ambiental , Cádmio/análise , Ecossistema , Lacase/metabolismo , Chumbo/análise , Pleurotus/metabolismo , Hidrocarbonetos Policíclicos Aromáticos/análise , Poluentes do Solo/análise
8.
Talanta ; 88: 375-84, 2012 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-22265513

RESUMO

Six digestion procedures were tested to improve extraction methods for determination of trace elements in various organic amendments with high inorganic fractions. These procedures were tested in terms of pH, CaCO(3), organic matter, elemental analysis, BCR sequential extraction and X-ray diffraction analysis. Aqua regia extraction (ISO 11466), total digestion HF-HNO(3)-HClO(4) and four microwave-assisted digestions (i.e., HNO(3), HCl-HNO(3), HNO(3)-HF and HCl-HNO(3)-HF) were used. The effect of acid mixtures on microwave-assisted digestion of mineral fractions was assessed by Si and Al analysis and X-ray diffraction in the solid residues obtained. Microwave HF acid mixtures obtained highest trace element recoveries for all tested metals except Al. CaF(2) and CaAlF(5) precipitates were also detected using X-ray diffraction in the residues after microwave digestions with HF acid mixtures of amendments with high calcium content. A decision flowchart was suggested to determine the best acid mixture according to the amendment and the metals to be analyzed.


Assuntos
Metais/análise , Poluentes do Solo/análise , Solo/química , Oligoelementos/análise , Monitoramento Ambiental , Ácido Clorídrico/química , Ácido Fluorídrico/química , Extração Líquido-Líquido , Micro-Ondas , Ácido Nítrico/química , Percloratos/química , Difração de Raios X
9.
Genet Couns ; 21(3): 299-306, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20964121

RESUMO

The concurrence of a reciprocal translocation and an aneuploidy represent a rare coincidence and an interchromosome effect between these two events has been suggested. We report the case of a family with a t(1;15) in three generations which was identified through the evaluation ofa patient with classical trisomy 21 or Down syndrome. The cytogenetic analysis with GTG banding showed that the proband had a regular trisomy 21 and a balanced translocation t(1;15). FISH and microsatellite analysis were carried out in the family in order to discard an interchromosomal effect. The implications for genetic assessment are discussed.


Assuntos
Aneuploidia , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 1/genética , Síndrome de Down/genética , Linhagem , Translocação Genética/genética , Pré-Escolar , Bandeamento Cromossômico , Síndrome de Down/diagnóstico , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Cariotipagem , Repetições de Microssatélites/genética , Fenótipo
10.
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
11.
Rev Esp Salud Publica ; 74(4): 369-75, 2000 Jul-Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-11031845

RESUMO

BACKGROUND: The change in the epidemiological pattern undergone by meningococcal disease in a large part of the country in the 1996-1997 season and the decision to intervene by means of a mass vaccination campaign in the age group between 18 months and 19 years of age, using a bivalent polysaccharide vaccine, justified to enhance the epidemiological surveillance of this disease. METHODS: Rates and other indicators of incidence and mortality were calculated for the 1998-1999 campaign by serogroup and age, according to the data notified to the Compulsory Disease Reporting System. RESULTS: The overall incidence was higher than the previous season, although, the rate ratio did not indicate a significantly greater risk. A statistically significant increase in the rate of incidence caused by serogroup B was registered, and for the second consecutive year, the serogroup C rate dropped, although not significantly. There was an increase in the number of deaths. The fatality rate due to serogroup C increased in the group between 1 and 4 years of age. The incidence remained high and with a clear seasonal pattern in the Communities that did not vaccinate. In the remainder, the incidence dropped and the seasonal pattern disappeared. CONCLUSIONS: Two years after the campaign, the predominance of serogroup B cases is generalised in all of the Autonomous Communities, except in the three where the immunisation was not performed. In the latter, in the course of the last two years, serogroup C has predominated. In the Communities where the vaccination campaign was carried out, there is an increase in the incidence, although not significantly, among children under 4 years of age.


Assuntos
Infecções Meningocócicas/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Humanos , Incidência , Lactente , Recém-Nascido , Meningite Meningocócica/epidemiologia , Meningite Meningocócica/mortalidade , Infecções Meningocócicas/mortalidade , Espanha/epidemiologia
12.
Hum Hered ; 47(2): 101-9, 1997 Mar-Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9097091

RESUMO

Nonsyndromic cleft lip with or without cleft palate is a common birth defect, affecting approximately 1 in 1,000 Caucasian newborns. Thirty-five multiplex families from the mid-Atlantic region of the United States and 22 families from central Mexico with a nonsyndromic form of cleft lip with or without cleft palate were selected for a linkage analysis. A tetranucleotide repeat marker (D2S443) located on the same yeast artificial chromosome as the transforming growth factor alpha locus was tested for linkage to a putative susceptibility Mendelian locus under varying levels of pentrance. No evidence for linkage between D2S443 and a susceptibility locus for cleft lip with or without cleft palate was found. Insight is given to explain this outcome in spite of the statistically significant associations found by other investigators.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Ligação Genética , Marcadores Genéticos , Fator de Crescimento Transformador alfa/genética , Mapeamento Cromossômico , Humanos , Repetições de Microssatélites
13.
Hum Genet ; 99(1): 22-6, 1997 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9003487

RESUMO

It has been reported that BCL3 on chromosome 19q, or a nearby gene, may play a role in the etiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) in some families. We tested 30 USA and 11 Mexican multiplex NSCL/P families for four markers on chromosome 19q: D19S178, APOC2/AC1, APOC2/007, and BCL3. While likelihood-based linkage analysis failed to show significant evidence of linkage, the transmission disequilibrium test indicated highly significant deviation from independent assortment of allele 3 at the BCL3 marker in both data sets (USA:P = 0.001; Mexican: P = 0.018; both combined: P < 0.001) and for allele 13 of the D19S178 marker in the Mexican data set (P = 0.004). These results support an association, possibly due to linkage disequilibrium, between chromosome 19 markers and a putative NSCL/P locus.


Assuntos
Cromossomos Humanos Par 19 , Fenda Labial/genética , Fissura Palatina/genética , Mapeamento Cromossômico , Fenda Labial/complicações , Fissura Palatina/complicações , Família , Feminino , Triagem de Portadores Genéticos , Ligação Genética , Marcadores Genéticos , Genótipo , Humanos , Desequilíbrio de Ligação , Escore Lod , Masculino , México , Probabilidade , Proteínas Proto-Oncogênicas/genética , Fatores de Transcrição , Estados Unidos
14.
Nat Genet ; 15(1): 36-41, 1997 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-8988166

RESUMO

Saethre-Chotzen syndrome is one of the most common autosomal dominant disorders of craniosynostosis in humans and is characterized by craniofacial and limb anomalies. The locus for Saethre-Chotzen syndrome maps to chromosome 7p21-p22. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype. We mapped TWIST to human chromosome 7p21-p22 and mutational analysis reveals nonsense, missense, insertion and deletion mutations in patients. These mutations occur within the basic DNA binding, helix I and loop domains, or result in premature termination of the protein. Studies in Drosophila indicate that twist may affect the transcription of fibroblast growth factor receptors (FGFRs), another gene family implicated in human craniosynostosis. The emerging cascade of molecular components involved in craniofacial and limb development now includes TWIST, which may function as an upstream regulator of FGFRs.


Assuntos
Acrocefalossindactilia/genética , Sequências Hélice-Alça-Hélice , Mutação , Proteínas Nucleares , Fatores de Transcrição/genética , Mapeamento Cromossômico , Cromossomos Artificiais de Levedura , Cromossomos Humanos Par 7 , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Proteína 1 Relacionada a Twist
15.
Bol Med Hosp Infant Mex ; 38(6): 887-902, 1981 Nov-Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-7317143

RESUMO

At the Nephrology Department of the Hospital Infantil de Mexico, four cases of Alport's syndrome. with no relation among themselves, were studied between, June 1978 and November 1979. The diagnosis was based on the presence in the patients, of proteinuria and/or hematuria and in some of the relatives, a history of renal disease, deafness and a variable degree of renal failure; at the renal biopsy examined with electronic microscopy, there were findings compatible with Alport's disease in all four cases. Field studied were carried in the largest possible number of relatives for each family group the clinical viewpoint including measurement of blood pressure, examination of urine with reactive stripes to detect proteinuria and hematuria and audiologic examination. In the group, 130 subjects were studied out of a total of 237; 37% were found affected; 21% complaining of deafness; four female cases (19%) had not reach an uremic condition. From the second group 36 subjects were studied out of 109 members. Fifty per cent were found affected. Three cases had reached an uremic state (15%). Out of the third group with a total of 74 members, 34 cases were studied and 62% were found affected. Two female cases (12%) were complaining of uremia. The third group comprised 60 members and 19 of them were studied finding 13% affected with 2 cases of uremia. There were cases exclusively with renal or auditive involvement or both, at the same time. In our casuistics, most of the cases affected of the kidney or of the auditive apparatus were female patients; likewise, the most severely ill were females. Out of the 106 patients affected of the kidney, there were 11 with uremia and 8 were females. It was noticed that both males and females who were affected, had children of either sex with the same degree of affection, the same as other children with no changes at all; therefore, it is concluded that transmission is by dominant autosomal heredity.


Assuntos
Nefrite Hereditária/genética , Adulto , Idoso , Criança , Surdez/genética , Feminino , Genes Dominantes , Hematúria/genética , Humanos , Glomérulos Renais/patologia , Masculino , México , Nefrite Hereditária/patologia , Linhagem , Proteinúria/genética , Fatores Sexuais , Uremia/genética
17.
Bol Med Hosp Infant Mex ; 33(6): 1423-33, 1976 Nov-Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-1008935

RESUMO

We are presenting five cases of Goldenhar's syndrome studied at the Clinical Genetics Unit of the Hospital Infantil of México. We do not know exactly the type of inheritance of this congenital malforamtion; in one of our cases, it seems to be related to advanced paternal age. We can consider the possibility of autosomal dominant neomutation.


Assuntos
Cisto Dermoide/diagnóstico , Neoplasias Oculares/diagnóstico , Disostose Mandibulofacial/diagnóstico , Anormalidades Múltiplas/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Síndrome
18.
Bol Med Hosp Infant Mex ; 33(2): 403-10, 1976 Mar-Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-177027

RESUMO

We present six cases of ADAM syndrome, that we have been studying at the Unit of Clinical Genetics of the Hospital Infantil de México. We wish to stress how it is possible using medical photography to appreciate the different characteristics of ADAM syndrome: A-Amniotic, D-Deformation, A-Adhesions, M-Mutilation.


Assuntos
Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Ectromelia , Encefalocele , Feminino , Dedos/anormalidades , Humanos , Lactente , Recém-Nascido , Masculino , Sindactilia , Síndrome , Aderências Teciduais , Dedos do Pé/anormalidades
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