Eur J Obstet Gynecol Reprod Biol
May 2012
Objective: To ascertain if there are differences in umbilical cord blood gas analysis between immediate and delayed cord clamping.
Study Design: In a prospective observational study on 60 vaginally delivered healthy term newborns, we sampled umbilical cord blood immediately after delivery and at the time umbilical cord pulsation spontaneously ceased.
Results: There were significant decreases in pH, oxygen saturation (sO(2)), glycemia, oxygen content (ctO(2)), bicarbonate (HCO(3)(-)) and base excess (BE).
Horizontal gene transfer (HGT) involves the nonsexual transmission of genetic material across species boundaries. Although often detected in prokaryotes, examples of HGT involving animals are relatively rare, and any evolutionary advantage conferred to the recipient is typically obscure. We identified a gene (HhMAN1) from the coffee berry borer beetle, Hypothenemus hampei, a devastating pest of coffee, which shows clear evidence of HGT from bacteria.
View Article and Find Full Text PDFMcArdle disease is caused by lack of glycogen phosphorylase (GP) activity in skeletal muscle. Patients experience exercise intolerance, presenting as early fatigue and contractures. In this study, we investigated the effects produced by a lack of GP on several genes and proteins of skeletal muscle in McArdle patients.
View Article and Find Full Text PDFAim: The purpose of this study was to determine the allelic and genotypic frequency distribution of the C34T mutation in the muscle isoform of the adenosine monophosphate deaminase 1 (AMPD1) gene and of the missense substitution K153R in the myostatin (GDF8) gene in one Spanish and two North African populations.
Method: One sample of 98 individuals was genotyped from the South of Spain (Alpujarra) and two samples from Morocco (77 Berbers and 78 Arabs).
Results: The frequency of the AMPD1 C34T mutation was lower in Berbers (0.
The formation of soluble nano-spheres or stable hydrogels through the self-assembling of a simple gemini amphiphilic pseudopeptide can be controlled by the tuning of the hydrophilic/hydrophobic interactions in aqueous medium.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
March 2012
Background: Published genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.
Methods: A cross sectional study was conducted, collecting demographic, family history, clinical, genotype and functional capacity data from all patients diagnosed with McArdle disease in the Spanish National Health System up to December 2010.
Parkinsonism Relat Disord
May 2012
Parkinson's disease (PD) is aetiologically complex with both familial and sporadic forms. Familial PD results from rare, highly penetrant pathogenic mutations whereas multiple variants of low penetrance may contribute to the risk of sporadic PD. Common variants implicated in PD risk appear to explain only a minor proportion of the familial clustering observed in sporadic PD.
View Article and Find Full Text PDFTwo alleles of a chickpea (Cicer arietinum L.) ethylene receptor-like sequence (CaETR-1) were sequence-characterized using synteny analysis with genome sequences of Medicago truncatula L. The full length of the sequence obtained in the accession FLIP84-92C resistant to ascochyta blight (CaETR-1a) span 4,428 bp, including the polyadenylation signal in the 3'-untranslated region (UTR), whereas it has a 730 bp deletion in the 3'-UTR region in the susceptible accession PI359075 (CaETR-1b).
View Article and Find Full Text PDFLung cancer is the leading cause of cancer mortality in Mexico and worldwide. In the past decade, there has been an increase in the number of lung cancer cases in young people, which suggests an important role for genetic background in the etiology of this disease. In this study, we genetically characterized 16 polymorphisms in 12 low penetrance genes (AhR, CYP1A1, CYP2E1, EPHX1, GSTM1, GSTT1, GSTPI, XRCC1, ERCC2, MGMT, CCND1 and TP53) in 382 healthy Mexican Mestizos as the first step in elucidating the genetic structure of this population and identifying high risk individuals.
View Article and Find Full Text PDFPhelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features.
View Article and Find Full Text PDFObjective: To perform a 1-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and to explore functional consequences of new susceptibility loci.
Methods: We synthesized 7 MS GWAS. Each data set was imputed using HapMap phase II, and a per single nucleotide polymorphism (SNP) meta-analysis was performed across the 7 data sets.
SIRT1 is a NAD(+)-dependent deacetylase that governs a number of genetic programs to cope with changes in the nutritional status of cells and organisms. Behavioral responses to food abundance are important for the survival of higher animals. Here we used mice with increased or decreased brain SIRT1 to show that this sirtuin regulates anxiety and exploratory drive by activating transcription of the gene encoding the monoamine oxidase A (MAO-A) to reduce serotonin levels in the brain.
View Article and Find Full Text PDFObjectives: To assess in hospitalized patients the prevalence of hyperglycemia, degree of glycemic control, rate of hypoglycemia, and treatment used.
Patients And Methods: A prospective, observational study.
Results: Hyperglycemia was found in 185 (26.
[(11)C]PBR28 binds the 18-kDa Translocator Protein (TSPO) and is used in positron emission tomography (PET) to detect microglial activation. However, quantitative interpretations of signal are confounded by large interindividual variability in binding affinity, which displays a trimodal distribution compatible with a codominant genetic trait. Here, we tested directly for an underlying genetic mechanism to explain this.
View Article and Find Full Text PDFGiardia intestinalis (G. intestinalis) is a flagellate parasite which has been considered the most common protozoan infecting human. Molecular techniques are of great value in studying the taxonomy, the zoonotic potential of animal isolates and the correlation between the genetic variability of the parasite and the range of clinical symptoms observed in humans.
View Article and Find Full Text PDFWe report a case of an African patient with sickle cell trait who was diagnosed in Spain with B-cell lymphoma. Blood smears were negative for malaria, and no plasmodium antigens were detected in the blood. To treat his lymphoma, the patient underwent chemotherapy and autologous stem cell transplantation.
View Article and Find Full Text PDFSchizophrenia patients, particularly those with current delusions, show a cognitive bias known as jumping to conclusions, defined as a decision made quickly on the basis of little evidence. The aim of this work was to examine the underlying mechanisms of this cognitive bias by means of the Picture To Decision Task, which allows one to analyse the effect of the context on decisions made. We compared the performance of this task by 42 psychotic patients, 21 siblings of these patients and 77 controls.
View Article and Find Full Text PDFThe use of pseudopeptidic gemini surfactants as stabilizers of hydrophobic quantum dots in water is discussed. Compound 1a acts as an intercalator with hydrophobic ligands of QDs transferring them from toluene to pure water yielding a fluorescent nanoparticle resistant to quenching by chloride anion (up to 0.1 M).
View Article and Find Full Text PDFBackground: Burden related to major depressive disorder (MDD) derives mostly from long-term occurrence of symptoms. This study aims to examine the prevalence, sociodemographic correlates, patterns of 12-month and lifetime psychiatric comorbidity, lifetime risk factors, psychosocial functioning, and mental health service utilization of chronic major depressive disorder (CMDD) compared to nonchronic major depressive disorder.
Methods: Face-to-face interviews were conducted in the 2001-2002 National Epidemiologic Survey on Alcohol and Related Conditions (n = 43,093).
The purpose of this study was to evaluate the efficacy of a multidisciplinary treatment program in patients severely affected by fibromyalgia. Thirty-four fibromyalgia patients were randomly divided into two groups. The control group: 17 women who continued their medical treatment and participated in four educational sessions and the experimental group that included 17 patients who besides the former medical treatment also underwent a weekly 1-h session program for 8 weeks including massage therapy, ischemic pressure on the 18 tender points, aerobic exercise and thermal therapy.
View Article and Find Full Text PDFPrevious studies have shown that black variety of maca has beneficial effects on learning and memory in experimental animal models. The present study aimed to determine whether the hydroalcoholic extract of black maca (BM) showed a dose-response effect in mice treated with ethanol 20% (EtOH) as a model of memory impairment. Mice were divided in the following groups: control, EtOH, ascorbic acid (AA) and 0.
View Article and Find Full Text PDF