摘要 :
We investigated whether genetic variations of the beta-2 adrenergic receptor (ADRB2) modulate the haemodynamic response following spinal anaesthesia for caesarean delivery. We focused on the effects of haplotypes formed by combina...
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We investigated whether genetic variations of the beta-2 adrenergic receptor (ADRB2) modulate the haemodynamic response following spinal anaesthesia for caesarean delivery. We focused on the effects of haplotypes formed by combinations of the Arg16Gly and Gln27Glu polymorphisms. Clinical data from 143 healthy parturients were collected. Only the ArgGln haplotype appeared to influence the risk of hypotension, most probably through a recessive mode of inheritance (p?=?0.027). Therefore, patients were grouped according to ArgGln homozygosity in two groups: presence of one or no copies of the haplotype (n?=?120) or two copies of the haplotype (n?=?23). Both groups presented similar baseline characteristics. Comparatively, patients homozygous for the ArgGln haplotype presented consistently higher blood pressure levels throughout the evaluation period (p?=?0.001 for systolic arterial pressure variation from baseline). In conclusion, our results demonstrate that haplotype variations of the the ADRB2 modulate the haemodynamic response following spinal anaesthesia for caesarean delivery.
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OBJECTIVE:: We examined the effect of standard formula and glutamine or glycine supplemented enteral formula on intestinal permeability and weight gain in children with malnutrition. METHODS:: 80 children aged 2 to 60 months with ...
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OBJECTIVE:: We examined the effect of standard formula and glutamine or glycine supplemented enteral formula on intestinal permeability and weight gain in children with malnutrition. METHODS:: 80 children aged 2 to 60 months with a weight-for-age z-score less than -2 were studied. From December 1996 to April 1999, 27 study patients received nonsupplemented formula. From June 2001 to June 2002 an additional 53 patients were randomly assigned to receive formula supplemented with glutamine or glycine (isosmolar concentrations) for 10 days. Lactulose/mannitol excretion ratio was used as a measure of intestinal permeability and was performed before and after 10 days of nutritional rehabilitation. Weight was measured before and after treatment. RESULTS:: Patients were similar on admission with regard to age, sex, nutritional status and lactulose/mannitol ratio. The lactulose/mannitol ratio significantly improved (decreased) in children receiving formula supplemented with glutamine for 10 days but not in those receiving glycine or nonsupplemented formula. Weight gain occurred during therapy in all groups and was not statistically different among groups. CONCLUSION:: Formula supplemented with glutamine improves intestinal barrier function compared with nonsupplemented formula but does not augment weight gain.
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Summary We investigated whether genetic variations of the beta-2 adrenergic receptor (ADRB2) modulate the haemodynamic response following spinal anaesthesia for caesarean delivery. We focused on the effects of haplotypes formed by...
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Summary We investigated whether genetic variations of the beta-2 adrenergic receptor (ADRB2) modulate the haemodynamic response following spinal anaesthesia for caesarean delivery. We focused on the effects of haplotypes formed by combinations of the Arg16Gly and Gln27Glu polymorphisms. Clinical data from 143 healthy parturients were collected. Only the ArgGln haplotype appeared to influence the risk of hypotension, most probably through a recessive mode of inheritance (p = 0.027). Therefore, patients were grouped according to ArgGln homozygosity in two groups: presence of one or no copies of the haplotype (n = 120) or two copies of the haplotype (n = 23). Both groups presented similar baseline characteristics. Comparatively, patients homozygous for the ArgGln haplotype presented consistently higher blood pressure levels throughout the evaluation period (p = 0.001 for systolic arterial pressure variation from baseline). In conclusion, our results demonstrate that haplotype variations of the the ADRB2 modulate the haemodynamic response following spinal anaesthesia for caesarean delivery.
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Background Although more than 14 loci may be involved in the development of nonsyndromic cleft lip and palate ( NSCLP ), the etiology has not been fully elucidated due to genetic and environmental risk factor interactions. Despite...
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Background Although more than 14 loci may be involved in the development of nonsyndromic cleft lip and palate ( NSCLP ), the etiology has not been fully elucidated due to genetic and environmental risk factor interactions. Despite advances in identifying genes associated with the NSCLP development using traditional genetic mapping strategies of candidate genes, genome‐wide studies, and epidemiologic and linkage analysis, microarray techniques have become important complementary tools in the search for potential causative oral clefts genes in genetic studies. Microarray hybridization enables scanning of the whole genome and detecting copy number variants ( CNV s). Although common benign CNV s are often smaller, with sizes smaller than 20?kb, here we reveal small exonic CNV s based on the importance of the encompassed genes in cleft lip and palate phenotype. Methods Microarray hybridization analysis was performed in 15 individuals with NSCLP . Results We identified 11 exonic CNV s affecting at least one exon of the candidate genes. Thirteen candidate genes ( COL 11A1– 1p21; IRF 6– 1q32.3; MSX 1– 4p16.2 ; TERT –5p15.33; MIR 4457 –5p15.33; CLPTM 1L –5p15.33; ESR 1– 6q25.1; GLI 3 –7p13; FGFR – 8p11.23; TBX 1– 22q11.21 ; OFD – Xp22; PHF 8– Xp11.22; and FLNA – Xq28) overlapped with the CNV s identified. Conclusions Considering the importance to NSCLP , the microdeletions that encompass MSX 1, microduplications over TERT , MIR 4457, CLPTM 1L, and microduplication of PHF 8 have been identified as small CNV s related to sequence variants associated with oral clefts susceptibility. Our findings represent a preliminary study on the clinical significance of small CNV s and their relationship with genes implicated in NSCLP .
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The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging...
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The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.
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Background: Patients with X-linked hyper-IgM syndrome (X-HIGM) due to CD40 ligand (CD40L) mutations are susceptible to fungal pathogens; however, the underlying susceptibility mechanisms remain poorly understood. Objective: To det...
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Background: Patients with X-linked hyper-IgM syndrome (X-HIGM) due to CD40 ligand (CD40L) mutations are susceptible to fungal pathogens; however, the underlying susceptibility mechanisms remain poorly understood. Objective: To determine whether monocyte-derived dendritic cells (DCs) from patients with X-HIGM exhibit normal responses to fungal pathogens. Methods: DCs from patients and controls were evaluated for the expression of costimulatory (CD80 and CD86) and MHC class II molecules and for their ability to produce IL-12 and IL-10 in response to Candida albicans and Paracoccidioides brasiliensis. We also evaluated the ability of C albicans- and P brasiliensis-pulsed mature DCs to induce autologous T-cell proliferation, generation of T helper (T H) 17 cells, and production of IFN-γ, TGF-β, IL-4, IL-5, and IL-17. Results: Immature DCs from patients with X-HIGM showed reduced expression of CD80, CD86, and HLA-DR, which could be reversed by exogenous trimeric soluble CD40L. Most important, mature DCs from patients with X-HIGM differentiated by coculturing DCs with fungi secreted minimal amounts of IL-12 but substantial amounts of IL-10 compared with mature DCs from normal individuals. Coculture of mature DCs from X-HIGM patients with autologous T cells led to low IFN-γ production, whereas IL-4 and IL-5 production was increased. T-cell proliferation and IL-17 secretion were normal. Finally, in vitro incubation with soluble CD40L reversed the decreased IL-12 production and the skewed T H2 pattern response. Conclusion: Absence of CD40L during monocyte/DC differentiation leads to functional DC abnormalities, which may contribute to the susceptibility to fungal infections in patients with X-HIGM.
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