Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 46
Filtrar
2.
Morphologie ; 104(345): 117-124, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32070640

RESUMO

The objective of the present study was to evaluate the morphology and angulation of the styloid process (SP), analyzing results stratified by gender, side and age on asymptomatic patients. We retrospectively analyzed 99 high-resolution computed tomography study images from asymptomatic patients. The images were assessed intra-observatory by a head and neck expert radiologist. Data for length, morphology, and angulation in a coronal and sagittal plane were recorded and stratified by age and gender. Morphology was classified according to the Langlais modified by Guimares classification. The mean lengths were 31.67±0.97mm and 31.64±0.90mm for the right and left sides respectively. Using the Langlais modified by Guimares classification, the normal type was the most prevalent and without a statistically significant difference when comparing between genders. A total of 27.6% presented a morphologically elongated SP (>25mm of continuous process), 49.5% presented a radiologically elongated SP (>30mm), and a total of 9.59% had a longer length than the proposed≤45mm. The right transverse angle was greater in men than women, and a statistically significant difference was found (P=0.010). We show the morphological variability of the SP. Although our results are reported with the traditional definition, the high prevalence supports the need for a new definition of elongated SP and a normal angulation ranges.


Assuntos
Variação Anatômica , Ossificação Heterotópica/diagnóstico , Osso Temporal/anormalidades , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Assintomáticas/epidemiologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ossificação Heterotópica/epidemiologia , Prevalência , Estudos Retrospectivos , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto Jovem
3.
J Mol Model ; 24(2): 46, 2018 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-29392428

RESUMO

Deciphering the mechanism of functioning of DNA as the carrier of genetic information requires identifying inherent factors determining its structure and function. Following this path, our previous DFT studies attributed the origin of unique conformational characteristics of right-handed Watson-Crick duplexes (WCDs) to the conformational profile of deoxydinucleoside monophosphates (dDMPs) serving as the minimal repeating units of DNA strand. According to those findings, the directionality of the sugar-phosphate chain and the characteristic ranges of dihedral angles of energy minima combined with the geometric differences between purines and pyrimidines determine the dependence on base sequence of the three-dimensional (3D) structure of WCDs. This work extends our computational study to complementary deoxydinucleotide-monophosphates (cdDMPs) of non-standard conformation, including those of Z-family, Hoogsteen duplexes, parallel-stranded structures, and duplexes with mispaired bases. For most of these systems, except Z-conformation, computations closely reproduce experimental data within the tolerance of characteristic limits of dihedral parameters for each conformation family. Computation of cdDMPs with Z-conformation reveals that their experimental structures do not correspond to the internal energy minimum. This finding establishes the leading role of external factors in formation of the Z-conformation. Energy minima of cdDMPs of non-Watson-Crick duplexes demonstrate different sequence-dependence features than those known for WCDs. The obtained results provide evidence that the biologically important regularities of 3D structure distinguish WCDs from duplexes having non-Watson-Crick nucleotide pairing.


Assuntos
Simulação por Computador , DNA/química , Conformação de Ácido Nucleico , Modelos Moleculares , Teoria Quântica
4.
Clin Transl Oncol ; 16(6): 573-80, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24129427

RESUMO

BACKGROUND AND PURPOSE: Anastomotic recurrence after radical sphincter-preserving surgery preceded by neoadjuvant therapy in locally advanced rectal cancer is an uncommon event that merits further assessment. The aim of this study is to analyze the effect of preoperative chemoradiation on the risk of anastomotic recurrence. Based on the initial extension of the tumor, we analyzed whether the distal surgical section was calculated through the virtual initial extension of the rectal tumor. PATIENTS AND METHODS: Eligible patients with locally advanced rectal cancer were offered preoperative chemoradiation, sphincter sparing surgery and intraoperative radiation therapy boost. RESULTS: 180 patients were treated with anterior resection (40 %), low anterior resection (45.6 %) and ultra-low anterior resection (14.4 %). With a median follow-up of 41.1 months (0.36-143 months), anastomotic recurrence was diagnosed in 9 patients (5 %). There was no statistical correlation with downstaging (T or N), downsizing effects, or with distance from the lower limit of the residual lesion to the distal margin. Virtual intratumoral surgical section was speculated in 44 patients (3 developed anastomotic recurrence; 6.8 vs 4.8 %, p = 0.482). CONCLUSION: Anastomotic recurrence in patients with rectal cancer treated with neoadjuvant chemoradiation is an infrequent event. Virtual intratumoral surgical sections followed by anastomosis do not contribute to an excessive risk of recurrence. Our findings encourage the development of policies for preservation of the ano-rectal complex in rectal cancer patients.


Assuntos
Adenocarcinoma/terapia , Anastomose Cirúrgica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimiorradioterapia , Recidiva Local de Neoplasia/diagnóstico , Neoplasias Retais/terapia , Adenocarcinoma/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Terapia Combinada , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Terapia Neoadjuvante , Recidiva Local de Neoplasia/etiologia , Estadiamento de Neoplasias , Tratamentos com Preservação do Órgão , Cuidados Pré-Operatórios , Prognóstico , Neoplasias Retais/patologia , Fatores de Risco
5.
Mol Syndromol ; 4(6): 285-91, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24167464

RESUMO

In this study, we present a female patient with a constitutional de novo deletion in 7q21.3q31.1 as determined by G-banding and CGH-SNP arrays. She exhibited, among other features, psychomotor retardation, congenital severe bilateral glaucoma, a cleft palate, and heart defect. Microarray assay disclosed a deleted 12.5-Mb region roughly 88 kb downstream the ectrodactyly critical region; thus, the patient's final karyotype was 46,XX.arr 7q21.3q31.1(96,742,140-109,246,085)×1 dn. This girl represents the fourth patient described so far with congenital glaucoma and a deletion encompassing or overlapping the 7q21.3q31.1 region, and confirms the presence of a locus or loci related to such a clinical feature. According to our results, the proneness to ocular defects secondary to 7q intermediate deletions could be caused by co-deletion of TAC1, HBP1, and a small cluster of cytochrome P450 genes (subfamily 3A). This conclusion is supported by their functional roles and expression locations as well as because TAC1 is related to the functional pathway of the MYOC gene whose mutations are linked to glaucoma. Moreover, given that this girl is clinically reminiscent of several phenotypes related to diverse deletions within 7q21q32, our results and observations offer a general overview of the gene content of deletions/phenotypes overlapping 7q21.3q31.1 and confirm that loci distal to DLX genes including the CUX1 gene and potential regulatory elements downstream from DLX5 are unrelated to ectrodactyly.

6.
Genet Mol Res ; 12(3): 2821-8, 2013 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-24065638

RESUMO

Recombination patterns can be indirectly inferred by means of linkage disequilibrium (LD) estimates, since LD is negatively correlated with genetic distance. However, LD does not necessarily have absolute correspondence with genetic distance. We estimated LD at 5 loci located in the 21q22.3 region. These STRs (D21S1440, D21S168, D21S1260, D21S1446, and D21S1411) covered 8.81 Mb of the 21q22.3 region. They were genotyped by conventional PCR. Similar size samples previously validated by sequencing were used as a genotyping control. Three hundred and sixty-nine individuals (62 families) living in Guadalajara, Mexico, were included. As an inclusion criterion, each family had a positive paternity test by autosomal markers for the CODIS core loci. Two hundred and thirty phase known haplotypes were identified by familial segregation. Only those haplotypes whose frequency was higher than 4% were taken into account for LD estimation, expressed as Lewontin's D' coefficient and Bonferroni's correction P values. For all 5 loci, the genetic distributions were in agreement with Hardy-Weinberg expectations. Heterozygosity and haplotype diversity were ≥ 0.69 and 99.58%, respectively. D21S1440-D21S168 (4.51 cM) and D21S1446-D21S1411 (4.58 cM) marker haplotype frequencies were significantly different from those expected by random distribution. The remaining haplotypes, including those with minimal inter-distance (D21S1260-D21S1446, 1.44 Mb), did not show LD. The 5 STRs at the 21q22.3 region in this Mexican population showed a non-homogeneous LD pattern, which demonstrates that recombination or linkage should not be assumed solely on the basis of genetic distance.


Assuntos
Síndrome de Down/genética , Desequilíbrio de Ligação , Repetições de Microssatélites/genética , Recombinação Genética , Alelos , Mapeamento Cromossômico , Genótipo , Haplótipos/genética , Heterozigoto , Humanos , México , Polimorfismo de Nucleotídeo Único/genética , Análise de Regressão
7.
Rev. argent. cir. plást ; 19(1): 26-30, 20130000. fig
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1552848

RESUMO

RESUMEN La lipoaspiración, técnica tradicional usada para el tratamiento de las lipodistrofi as con cicatrices mínimas, ha sido a través de los años mejorada con los avances anestésicos, farmacológicos y de instrumental. A su vez han aparecido otras técnicas que han publicitado ventajas respecto del tiempo de recuperación, sintomatología y resultados estéticos. Una de estas técnicas es la lipoaspiración asistida con láser, a la que se atribuye menos dolor, menos equimosis y rápido posoperatorio, pero lo más importante que se le atribuye a esta técnica es la gran retracción dermoepidermica. Hay que hacer notar que para ello es necesario la correcta elección del paciente, ya que las resecciones y dermolipectomías no van a ser reemplazadas por esta técnica. Ya existen trabajos que acreditan estos benefi cios, por lo que decidimos estudiar si existen ventajas de la lipoaspiración asistida con láser asociadas a la longitud de onda que se utiliza. Para esto presentamos nuestra experiencia con el empleo de la lipoaspiración asistida con láser de DIODO 1210, con una muestra de 50 pacientes, a los cuales se aplicó dicha técnica en diferentes areas. Se evaluó el dolor en el posoperatorio inmediato, a las 24 horas y a las 48 horas. Los resultados mostraron que la lipoaspiración asistida con DIODO 1210 presenta menos dolor, rápida inserción laboral posoperatoria, menos equimosis y gran retracción de los tejidos


The liposuction, traditional technique used for the treatment of lipodystrophy with minimal scarring, has been improved over the years with advances anesthetics, pharmacological and instrumentation. In turn, other techniques have emerged that have publicized advantages over recovery time, symptomatology and aesthetic results. One such technique is the laser-assisted liposuction attributed to less pain, less bruising and faster postoperative, and most importantly it is attributed to this technique is the large dermoepidermal retraction, and it should be noted that this requires the correct choice of the patient, as dermolipectomy resections and will not be replaced by this técnica.Ya see work substantiating these benefi ts, so we decided to study whether there are advantages of laser assisted liposuction over the wavelength used. For this we present our experience with using assisted liposuction laser diode 1210, with a sample of 50 patients for whom this technique was applied in diff erent areas. We assessed postoperative pain at 24 hours and at 48 hours. The results showed that 1210 DIODO assisted liposuction include less pain, postoperative rapid job placement, less bruising and large tissue retraction.


Assuntos
Humanos , Masculino , Feminino , Cirurgia Plástica/métodos , Lipectomia/métodos , Lasers Semicondutores/uso terapêutico
8.
Neotrop Entomol ; 40(1): 28-34, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21437479

RESUMO

Chalkbrood disease affects the larvae of honeybees Apis mellifera L. and is caused by the fungus Ascosphaera apis. Infected larvae die when they are stretched in the cap cell and suffer a gradual hardening that ends in a very hard structure (mummie). Several studies have demonstrated that colonies that express an efficient hygienic behaviour (uncapping of cell and subsequent removal of dead brood) exhibit a higher resistance to the disease. However, it remains unclear whether the advantage of hygienic colonies over less hygienic ones lies in the ability to remove mummies or in the early detection of infected larvae and its cannibalization before they harden. To elucidate this aspect, the hygienic behaviour of 24 colonies, which were subsequently provided with pollen cakes containig A. apis, was evaluated. The number of mummies and the number of partially cannibalized and whole larvae in uncapped cells were recorded. The most hygienic colonies controlled the disease better. These colonies also had a higher tendency to uncap cells that contained infected larvae and cannibalize them. The presence of A. apis in partially cannibalized and whole larvae in uncapped cells indicate that the advantage of hygienic colonies over less hygienic ones lies in the early detection of infected larvae death and their quick removal from the cell before they become mummies.


Assuntos
Abelhas/imunologia , Comportamento Consumatório , Imunidade Inata , Micoses/veterinária , Onygenales , Animais , Higiene , Micoses/imunologia
9.
Neotrop. entomol ; 40(1): 28-34, Jan.-Feb. 2011. graf, tab
Artigo em Inglês | LILACS | ID: lil-578830

RESUMO

Chalkbrood disease affects the larvae of honeybees Apis mellifera L. and is caused by the fungus Ascosphaera apis. Infected larvae die when they are stretched in the cap cell and suffer a gradual hardening that ends in a very hard structure (mummie). Several studies have demonstrated that colonies that express an efficient hygienic behaviour (uncapping of cell and subsequent removal of dead brood) exhibit a higher resistance to the disease. However, it remains unclear whether the advantage of hygienic colonies over less hygienic ones lies in the ability to remove mummies or in the early detection of infected larvae and its cannibalization before they harden. To elucidate this aspect, the hygienic behaviour of 24 colonies, which were subsequently provided with pollen cakes containig A. apis, was evaluated. The number of mummies and the number of partially cannibalized and whole larvae in uncapped cells were recorded. The most hygienic colonies controlled the disease better. These colonies also had a higher tendency to uncap cells that contained infected larvae and cannibalize them. The presence of A. apis in partially cannibalized and whole larvae in uncapped cells indicate that the advantage of hygienic colonies over less hygienic ones lies in the early detection of infected larvae death and their quick removal from the cell before they become mummies.


Assuntos
Animais , Abelhas/imunologia , Comportamento Consumatório , Imunidade Inata , Micoses/veterinária , Onygenales , Higiene , Micoses/imunologia
10.
J Ethnopharmacol ; 103(3): 461-7, 2006 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-16266794

RESUMO

A new prenylated salicylic acid derivative, 3-farnesyl-2-hydroxy benzoic acid (1), was isolated from the leaves of Piper multiplinervium C. DC. (Piperaceae). It showed anti-Helicobacter pylori activity (MIC 37.5 microg/ml) and antimicrobial activity at MICs between 2.5 and 5 microg/ml against Staphylococcus aureus, Escherichia coli, Klebsiella pneumoniae, Mycobacterium smegmatis, Pseudomonas aeruginosa and Candida albicans. Its structure was elucidated by means of MS, 1H and 13C NMR. The ethnomedical claim of Piper multiplinervium to treat stomach aches by the Kuna Indians of Panama may be justified by anti-Helicobacter pylori activity of its MeOH extract.


Assuntos
Anti-Infecciosos/farmacologia , Farneseno Álcool/análogos & derivados , Helicobacter pylori/efeitos dos fármacos , Hidroxibenzoatos/farmacologia , Piper/química , Anti-Infecciosos/isolamento & purificação , Escherichia coli/efeitos dos fármacos , Escherichia coli/crescimento & desenvolvimento , Farneseno Álcool/farmacologia , Helicobacter pylori/crescimento & desenvolvimento , Testes de Sensibilidade Microbiana , Estrutura Molecular , Panamá , Folhas de Planta , Staphylococcus aureus/efeitos dos fármacos , Staphylococcus aureus/crescimento & desenvolvimento
11.
Tissue Antigens ; 66(6): 666-73, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16305683

RESUMO

HLA-A and HLA-B genes were typed by DNA sequencing in a mestizo population from Guadalajara, Jalisco, Mexico. Thirty-seven HLA-A and 51 HLA-B alleles were observed in 103 samples. The common typical Amerindian alleles (>5%) and haplotypes (>or=2.0%) found were A*02010101, *24020101, *310102, B*350101, and *4002, and A*310102-B*4002, A*240201-B*350101, and the typical European alleles were A*010101, *29010101, B*1402, B*180101, and A*020101-B*1402, A*020101-B*510101, and A*3002-B*180101. This reflects the blending of the two main parental populations of mestizos: Amerindian and Iberian. Mexicans were found to be relatively closer to the Portuguese than to Spaniards. This proximity may indicate a larger Portuguese influence in Mexicans than previously considered. Present data contribute to the understanding of the genetic structure in Mexico.


Assuntos
Frequência do Gene , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Genética Populacional , Antígenos HLA-A/classificação , Antígenos HLA-B/classificação , Haplótipos , Teste de Histocompatibilidade , Humanos , México , Filogenia , Portugal , Análise de Sequência , Espanha
12.
Eur J Med Genet ; 48(1): 29-32, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15953403

RESUMO

BACKGROUND: The frequency of haplotypes of Nsp I-Eco47 III sites, at the IDUA (alpha-L iduronidase) gene, in Huichol, Tarahumara and Mestizo Mexican population is reported. METHODS: Eco47 III and Nsp I intragenic polymorphisms in IDUA gene are studied in three (Mestizo, Huichol and Tarahumara populations) Mexican groups. Data from normal Australian [Hum. Genet. 90 (1992) 327] individuals were considered for comparative analyses. RESULTS: The genotypes for IDUA Eco47 III and Nsp I sites in Mexicans were in agreement with Hardy-Weinberg equilibrium. Allele frequency distributions for individual sites differed (P < 0.05) except at site B1 in the Huichol group. Haplotype Eco47 III-Nsp I frequency distributions were different in the three Mexican normal groups, and it was also observed when to compared with the normal Australians. CONCLUSIONS: This characteristic makes the two IDUA polymorphic sites useful for identification purposes, and these polymorphisms could be included in a PCR based battery of DNA markers.


Assuntos
Desoxirribonucleases de Sítio Específico do Tipo II/genética , Frequência do Gene , Iduronidase/genética , Polimorfismo de Fragmento de Restrição , Adulto , Haplótipos , Humanos , México/etnologia
13.
Rev. Fac. Nac. Salud Pública ; 23(1): 33-45, ene.-jun. 2005. tab, graf
Artigo em Espanhol | LILACS | ID: lil-413546

RESUMO

Objetivo: el objetivo de la investigación fue determinar la frecuencia del síndrome de burnout y su relación con la satisfacción laboral en el personal de enfermería del Instituto Autónomo Hospital Universitario Los Andes, de Mérida, Venezuela. Métodos: la investigación es de tipo descriptivo y diseño transversal. Se utilizó una muestra de 104 trabajadores de la enfermería (83 mujeres y 21 hombres), de las áreas de hospitalización, unidad de cuidados intensivos y emergencias obstétrica, pediátrica y de adultos, que se eligieron mediante muestreo aleatorio estratificado. Se aplicó una encuesta de variables sociodemográficas; el cuestionario de Maslach Burnout Inventory (MBI) y el cuestionario de escala de satisfacción laboral de Warr, Cook y Wall.Resultados: los valores obtenidos fueron de 15,42±10,79 en cansancio emocional; 5,58±5,45 en despersonalización y 40,21±6,83 en realización personal. Un 6,73 por ciento presentó burnout. Se obtuvo una media de 35,72±8,94 en satisfacción intrínseca; 30,67±9,19 en la extrínseca y 66,39±17,21 en la general. Conclusión: se concluye que el nivel de burnout es bajo, aunque hay un riesgo epidemiológico alto. Existe un nivel moderado de satisfacción, dada principalmente por factores intrínsecos al trabajo. Las variables sociodemográficas tienen un bajo efecto en las dimensiones del síndrome.


Assuntos
Esgotamento Profissional , Satisfação no Emprego , Recursos Humanos de Enfermagem , Estresse Fisiológico
14.
Tissue Antigens ; 63(5): 458-65, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15104677

RESUMO

HLA-DQB1, -DQA1, and -DRB1 genes were typed by polymerase chain reaction with sequence-specific primer (PCR-SSP) in 159 healthy volunteers from 32 families living in Guadalajara, Mexico. Three-locus genotype data from all family members were used to infer haplotypes in 54 unrelated individuals of the sample, from which estimate of segregating haplotype frequencies and linkage disequilibrium (LD) between loci were computed. Genotype distributions were concordant with Hardy-Weinberg expectations (HWE) for all three loci, and allele distributions were similar to the ones observed in other Latin-American populations. Of the 56 distinct three-site (DQB1-DQA1-DRB1) haplotypes observed in the sample, the five most common (i.e., with frequencies of five counts or more) were: *0302-*0301-*04, *0201-*0201-*07, *0301-*0501-*14, *0402-*0401-*08, and *0501-*0101-*01. These common three-locus haplotypes also contributed to the majority of the significant two-locus linkage disequilibria of these three sites.


Assuntos
Antígenos HLA-DQ/genética , Antígenos HLA-DR/genética , Indígenas Norte-Americanos , População Branca , Cadeias alfa de HLA-DQ , Cadeias beta de HLA-DQ , Cadeias HLA-DRB1 , Haplótipos , Humanos , Desequilíbrio de Ligação , México , Reação em Cadeia da Polimerase
15.
J Opt Soc Am A Opt Image Sci Vis ; 20(5): 827-35, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12747430

RESUMO

A rigorous modal theory for the diffraction of Gaussian beams from N equally spaced slits (finite grating) in a planar perfectly conducting thin screen is presented. The case of normal incidence and TE polarization state is considered; i.e., the electric field is parallel to the slits. The characteristics of the far-field diffraction patterns, the transmission coefficient, and the normally diffracted energy as a function of several optogeometrical parameters are analyzed within the so-called vectorial region, where the polarization effects are important. The diffraction pattern of an aperiodic grating is also considered. In addition, one diffraction property known to be valid in the scalar region is generalized to the vectorial region: the existence of constant-intensity angles in the far field when the incident beam wave is scanned along the N slits. The classical grating equation is tested for incident Gaussian beams under several conditions.

16.
Ann Genet ; 43(2): 89-92, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10998450

RESUMO

The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene, associated with the thermolabile form of the enzyme, has reportedly been found to be increased in neural-tube defects (NTD), though this association is still unclear. A group of 107 mestizo parents of NTD children and five control populations: 101 mestizo (M), 50 Huichol (H), 38 Tarahumara (T), 21 Purepecha (P) and 20 Caucasian (C) individuals were typed for the MTHFR C677T variant by the PCR/RFLP (HinfI) method. Genotype frequencies were in agreement with the Hardy-Weinberg expectations in all six populations. Allele frequency (%) of the C677T variant was 45 in NTD, 44 in M, 56 in H, 36 in T, 57 in P, 35 in C. Pairwise inter-population comparisons of allele frequency disclosed a very similar distribution between NTD and M groups (exact test, P=0.92). Among controls, differences between M and individual native groups were NS (0.06

Assuntos
Mutação de Sentido Incorreto/genética , Defeitos do Tubo Neural/enzimologia , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Polimorfismo Genético , DNA/análise , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , México/epidemiologia , Defeitos do Tubo Neural/etnologia , Defeitos do Tubo Neural/genética , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/sangue , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição
17.
Gynecol Obstet Invest ; 49(4): 255-60, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10828709

RESUMO

The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes. Of the 100 sibships, 14 (14%) had more than 1 affected member. The pregnancy was shorter than 28 weeks in 56/205 (27%) of the total outcomes. Of 104 evaluable previous outcomes, 34 corresponded to short pregnancies, positioned before an affected (23/60, 38%), a healthy (2/18, 11%), or an undiagnosed product (9/26, 35%). Short pregnancies subsequent to affected outcomes were also increased. The inter-gestational interval varied according to diagnosis: it was longer in the affected group than in the healthy one (0.1 > p > 0.05) and the subsequent intervals were shorter for the affected group (p < 0.05). An increased number of abortions adjacent to affected offspring and a changing fertility pattern, depending on the product diagnosis, point to an environmental etiological component in this high-risk NTD group of mothers.


Assuntos
Defeitos do Tubo Neural/etiologia , Aborto Espontâneo , Meio Ambiente , Feminino , Idade Gestacional , Humanos , Idade Materna , México/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Núcleo Familiar , Gravidez , Recidiva , Fatores de Risco
18.
Ann Genet ; 43(1): 51-4, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10818222

RESUMO

Only nine non-polymorphic constitutional pericentric inversions of chromosome 9 have been described. We report on a familial inv(9)(p24q13) associated with sterility in three brothers. The mother's chromosomes were normal in blood lymphocytes (n=130); the father was already deceased and his karyotype unknown. However, the presence of any of the maternal chromosomes 9 (as assessed by C-banding) in her carrier children is inconsistent with the assumption of maternal mosaicism. Two single sisters were also carriers. The same rearranged chromosome 9 in the three sterile brothers can hardly be regarded as a fortuitous association, especially when the breakpoints are almost identical to those of the sole inversion previously found in an azoospermic male. If their father was a carrier, the observed sterility may be the result of 'chromosome anticipation', a phenomenon already invoked for certain familial chromosomal rearrangements.


Assuntos
Inversão Cromossômica , Cromossomos Humanos Par 9 , Infertilidade Masculina/genética , Adulto , Mapeamento Cromossômico , Feminino , Genitália Masculina/anormalidades , Humanos , Infertilidade Masculina/sangue , Infertilidade Masculina/patologia , Masculino , Núcleo Familiar , Oligospermia/genética , Linhagem
19.
Hum Mutat ; 15(1): 116-7, 2000 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10612837

RESUMO

The factor IX gene (F9) is a valuable model for studying germ-line mutations. Nine mutations were detected in nine Mexican patients with hemophilia B by direct sequencing using genomic amplification with transcript sequencing (GAWTS): six single base changes, one micro-deletion, and two large deletions. Germline origins of mutations were found in three of six families with sporadic cases. Curiously, the four independent single base substitutions which were not at CpG dinucleotides occurred at only two different nucleotide positions (17,678 and 17,747) one transition and one transversion at each. The two remaining substitutions were identical changes at a CpG dinucleotide, but were determined to be independent by germline origin analysis. A statistical analysis suggests that the independent recurrence of mutations at these locations may reflect an unusual aspect of F9 mutagenesis in the Mexican population. These data raise the possibility of population-specific differences in human germline mutations.


Assuntos
Fator IX/genética , Mutação em Linhagem Germinativa , Hemofilia B/genética , Feminino , Deleção de Genes , Humanos , Masculino , México , Mutação Puntual
20.
Rev Med Panama ; 25: 19-23, 2000.
Artigo em Espanhol | MEDLINE | ID: mdl-15881743

RESUMO

The gastric pathogen Helicobacter pylori has been recognized as the major aetiologic agent of chronic gastritis and peptic ulcers and also a risk factor for gastric cancer; eradication of H pylori prevents peptic ulcer recurrence and may also decrease the prevalence of gastric cancer in high risk populations around the world. Currently the only accepted indication for treatment is ulcer disease and maltosa, infected with Helicobacter pilory. However treatment is difficult and easily develops resistance. The elaboration of an antibiotic profile is recommended after a treatment failure. There is a lack of information in developing countries so the aim of this work was to determine the antibiotic profile of 51 strains isolated from patients gastric biopsies attended at Hospital San Juan de Dios in Costa Rica, using egg yolk broth and finding a resistance of 63.0% to metronidazole with a breakpoint of 8.0 microg/ml and 20.0% resistance to tetracycline (MIC1.0 microg/ml), 6.0% to clarithromicyn with a MIC of 0.125 microg/ml. There was no resistance to amoxicilin (MIC 0.015 microg/ml). The microdilution technique is very laborious, but highly reproducible with results accordingly to previous work, and we recommended it for the designing of therapeutical scheme.


Assuntos
Antibacterianos/uso terapêutico , Helicobacter pylori/efeitos dos fármacos , Farmacorresistência Bacteriana/efeitos dos fármacos , Infecções por Helicobacter/tratamento farmacológico , Helicobacter pylori/isolamento & purificação , Humanos , Testes de Sensibilidade Microbiana/métodos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA