131I activity in urine to the sewer system due to thyroidal treatments.

In nuclear medicine, estimating the radioactivity contained in the urine of patients treated with I and discharged to the environment could prevent the exposure of a population to radioactive effluents and the pollution of the aquatic environment with ionizing radiation. This can be a regulatory requirement (as in Spain) or requested by the sewer authority. Seventy-nine differentiated thyroid cancer cases (undergone as inpatients) and 187 hyperthyroidism cases (undergone as outpatients) were treated in our hospital with I throughout the year 2009.

Genetic analysis of 7 medieval skeletons from the Aragonese Pyrenees.

Aim: To perform a genetic characterization of 7 skeletons from medieval age found in a burial site in the Aragonese Pyrenees.

Methods: Allele frequencies of autosomal short tandem repeats (STR) loci were determined by 3 different STR systems. Mitochondrial DNA (mtDNA) and Y-chromosome haplogroups were determined by sequencing of the hypervariable segment 1 of mtDNA and typing of phylogenetic Y chromosome single nucleotide polymorphisms (Y-SNP) markers, respectively.

Association of IL10 promoter polymorphisms with idiopathic achalasia.

Idiopathic achalasia is an esophageal motor disorder of unknown etiology. A wealth of evidence supports the concept that achalasia is an immune-mediated disease. According to this evidence, achalasia has been significantly associated with specific alleles of the human leukocyte antigen class II, PTPN22 and IL23R.

Dinuclear cobalt(II) and copper(II) complexes with a Py2N4S2 macrocyclic ligand.

The interaction between Co(II) and Cu(II) ions with a Py(2)N(4)S(2)-coordinating octadentate macrocyclic ligand (L) to afford dinuclear compounds has been investigated. The complexes were characterized by microanalysis, conductivity measurements, IR spectroscopy and liquid secondary ion mass spectrometry. The crystal structure of the compounds [H(4)L](NO(3))(4), [Cu(2)LCl(2)](NO(3))(2) (5), [Cu(2)L(NO(3))(2)](NO(3))(2) (6), and [Cu(2)L(μ-OH)](ClO(4))(3)·H(2)O (7) was also determined by single-crystal X-ray diffraction.

Roles of RpoS and PsrA in cyst formation and alkylresorcinol synthesis in Azotobacter vinelandii.

Azotobacter vinelandii is a soil bacterium that undergoes differentiation to form cysts that are resistant to desiccation. Upon induction of cyst formation, the bacterium synthesizes alkylresorcinols that are present in cysts but not in vegetative cells. Alternative sigma factors play important roles in differentiation.

[Detection and molecular staging of bladder cancer using real-time RT-PCR for gelatinases (MMP-2, MMP-9) and TIMP-2 in peripheral blood].

Introduction: Molecular staging of bladder cancer based on the detection of mRNA of urothelial specific genes in circulating cancer cells has been inconclusive. We analyze whether real-time RT-PCR evaluation of gelatinases (MMP-9, MMP-2) and TIMP-2 in peripheral blood to diagnose and characterize patients with bladder neoplasm.

Material And Method: Total RNA is extracted from circulating blood cells in 42 individuals (11 healthy controls, 31 patients with bladder cancer of different stages) and real-time RT-PCR performed using specific primers for MMP-9, MMP-2, TIMP-2 and ribosomal 18S.

Focus on: structural and functional brain abnormalities in fetal alcohol spectrum disorders.

Children exposed to alcohol prenatally can experience significant deficits in cognitive and psychosocial functioning as well as alterations in brain structure and function related to alcohol's teratogenic effects. These impairments are present both in children with fetal alcohol syndrome (FAS) and in children with heavy in utero alcohol exposure who do not have facial dysmorphology required for the FAS diagnosis. Neuropsychological and behavioral studies have revealed deficits in most cognitive domains measured, including overall intellectual functioning, attention/working memory, executive skills, speed of processing, and academic skills in children and adolescents across the range of fetal alcohol spectrum disorders (FASD).

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Context: In 46,XY disorders of sex development, 5α-reductase deficiency is rare and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to partial androgen insensitivity syndrome. Yet the cause of ambiguous genitalia may guide sex assignment, and rapid, precise diagnosis of 5α-reductase deficiency is essential.

Objective: The aim of the study was to describe relevant data for clinical diagnosis, biological investigation, and molecular determination from 55 patients with srd5A2 mutations identified in our laboratory over 20 yr to improve early diagnosis.

Nuclear DNA typing from ancient teeth.

Because of the adverse effects that diagenesis exert on ancient skeletal remains, DNA from these samples is often compromised to the point where genetic typing can be challenging. Nevertheless, robust and reliable methods are currently available to allow successful genotyping of ancient specimens. Here we report nuclear DNA-based methods and typing strategies used to analyze 2 human skeletons from a medieval burial.

Structural, MALDI-TOF-MS, magnetic and spectroscopic studies of new dinuclear copper(II), cobalt(II) and zinc(II) complexes containing a biomimicking μ-OH bridge.

The Py(2)N(4)S(2) octadentate coordinating ligand afforded dinuclear cobalt, copper and zinc complexes and the corresponding mixed metal compounds. The overall geometry and bonding modes have been deduced on the basis of elemental analysis data, MALDI-TOF-MS, IR, UV-vis and EPR spectroscopies, single-crystal X-Ray diffraction, conductivity and magnetic susceptibility measurements. In the copper and zinc complexes, a μ-hydroxo bridge links the two metal ions.

Immunocontraception in wild horses (Equus caballus) extends reproductive cycling beyond the normal breeding season.

Background: Although the physiological effects of immunocontraceptive treatment with porcine zona pellucida (PZP) have been well studied, little is known about PZP's effects on the scheduling of reproductive cycling. Recent behavioral research has suggested that recipients of PZP extend the receptive breeding period into what is normally the non-breeding season.

Methodology/principal Findings: To determine if this is the case, we compiled foaling data from wild horses (Equus caballus) living on Shackleford Banks, North Carolina for 4 years pre- and 8 years post-contraception management with PZP (pre-contraception, n = 65 births from 45 mares; post-contraception, n = 97 births from 46 mares).

CRF₂ mediates the increased noradrenergic activity in the hypothalamic paraventricular nucleus and the negative state of morphine withdrawal in rats.

Background And Purpose: Recent evidence suggests that corticotropin-releasing factor (CRF) receptor signalling is involved in modulating the negative symptoms of opiate withdrawal. In this study, a series of experiments were performed to further characterize the role of CRF-type 2 receptor (CRF₂) signalling in opiate withdrawal-induced physical signs of dependence, hypothalamus-pituitary-adrenal (HPA) axis activation, enhanced noradrenaline (NA) turnover in the hypothalamic paraventricular nucleus (PVN) and tyrosine hydroxylase (TH) phosphorylation (activation), as well as CRF₂ expression in the nucleus of the solitary tract-A₂ noradrenergic cell group (NTS-A₂).

Experimental Approach: The contribution of CRF₂ signalling in opiate withdrawal was assessed by i.

Hierarchical Y-SNP assay to study the hidden diversity and phylogenetic relationship of native populations in South America.

Studying the Y chromosomes of indigenous tribes of Ecuador revealed a lack of strategic SNP assays to examine the substructure of South American native populations. In most studies dealing with South American samples so far only the most common Y-SNP M3 of haplogroup Q was analyzed, because this is known to define a founder group in South America. Studies of SNPs ancestral to Q-M3 (Q1a3a) to confirm the results or the typing of Q subclades have often been neglected.

The R30Q DLG5 variant is not associated with celiac disease or inflammatory bowel disease in the Spanish population.

Alterations in intestinal epithelial permeability could underlie inflammatory bowel disease (IBD) and celiac disease (CeD) etiology, as supported by previous association studies. One related gene, DLG5 [discs, large homologue 5 (Drosophila)], has been associated with IBD in several populations and with CeD in the Dutch population. We tried to confirm the involvement of DLG5 in CeD performing a case-control study (725 CeD patients and 803 controls) by analysing the R30Q variant (rs1248696).

Reconstructing the population history of Nicaragua by means of mtDNA, Y-chromosome STRs, and autosomal STR markers.

Before the arrival of the Spaniards in Nicaragua, diverse Native American groups inhabited the territory. In colonial times, Native Nicaraguan populations interacted with Europeans and slaves from Africa. To ascertain the extent of this genetic admixture and provide genetic evidence about the origin of the Nicaraguan ancestors, we analyzed the mitochondrial control region (HVSI and HVSII), 17 Y chromosome STRs, and 15 autosomal STRs in 165 Mestizo individuals from Nicaragua.

Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

To understand the genetic predisposition to selective immunoglobulin A deficiency (IgAD), we performed a genome-wide association study in 430 affected individuals (cases) from Sweden and Iceland and 1,090 ethnically matched controls, and we performed replication studies in two independent European cohorts. In addition to the known association of HLA with IgAD, we identified association with a nonsynonymous variant in IFIH1 (rs1990760G>A, P = 7.3 x 10(-10)) which was previously associated with type 1 diabetes and systemic lupus erythematosus.

New dinuclear nickel(II) and iron(II) complexes with a macrocyclic ligand containing a N6S2 donor-set: synthesis, structural, MALDI-TOF-MS, magnetic and spectroscopic studies.

A series of dinuclear Ni(II) and Fe(II) complexes with a Py(2)N(4)S(2) coordinating octadentate macrocyclic ligand L prepared by direct reactions have been studied. The overall geometry and bonding mode have been deduced on the basis of elemental analysis data, infrared, MALDI-TOF-MS, UV-vis spectroscopy, X-ray diffraction, conductivity and magnetic susceptibility measurements. In general both M(2+) centres are sited into the macrocyclic cavity coordinated to a pyridinic nitrogen atom, one sulfur atom, two secondary amine groups from the macrocyclic backbone and completing the coordination spheres with two solvent or anionic molecules in a distorted octahedral geometry, except in the case of [Ni(2)L(mu-Cl)(H(2)O)(2)](BF(4))(3).

Changes in metabolic-related variables during chronic morphine treatment.

To reveal neuroendocrine/neurochemical changes that are responsible for the robust metabolic alterations seen during chronic morphine treatment we followed hormonal-, transcriptional- and behavioral changes during chronic morphine administration in adult male Wistar rats. Animals were implanted with increasing amount of slow release morphine tablets for 8 days. Morphine treated animals gain significantly less weight than placebo implanted controls.

Erythrocyte deformability in macrocytosis determined by means of ektacytometry techniques.

There is little information regarding the behaviour of red blood cell deformability in macrocytosis. We have determined in 114 patients with macrocytosis (MCV > 97 fL) and in 115 age and sex-matched subjects with normocytosis (VCM < 97 fL) erythrocyte deformability by means of ektacytometric techniques (Rheodyn SSD) measuring the erythrocyte elongation index (EEI) at 12, 30 and 60 Pa. Patients with macrocytosis showed statistically higher EEI at all the shear stresses tested when compared with controls (p < 0.

Light and colour as analytical detection tools: a journey into the periodic table using polyamines to bio-inspired systems as chemosensors.

This critical review describes some developments on the chemistry of fluorescent and colorimetric molecular probes or chemosensors, based on polyamines and associated compounds having oxygen and/or sulfur as donor atoms. The reported systems are essentially based on some selected published work in this field in the last five years, and in the work developed by the authors from 2000 onwards. Some interesting properties beyond sensing molecules, ions or/and cations by fluorescence, colorimetry as well as by MALDI-TOF MS spectrometry can arise from these systems.

MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.

The etiology of selective IgA deficiency (IgAD) is clearly influenced by human leukocyte antigen (HLA) genetic composition, although the susceptibility observed has not been ascribed to any specific gene/s. A possible role of the MSH5 gene, mapping on this chromosomal region, has been proposed based on its function and on the association of some MSH5 polymorphisms (L85F/P786S and rs3131378) with the disease. However, the extensive linkage disequilibrium in the HLA region makes mandatory additional analyses.

Induction of FosB/DeltaFosB in the brain stress system-related structures during morphine dependence and withdrawal.

The transcription factor DeltaFosB is induced in the nucleus accumbens (NAc) by drugs of abuse. This study was designed to evaluate the possible modifications in FosB/DeltaFosB expression in both hypothalamic and extrahypothalamic brain stress system during morphine dependence and withdrawal. Rats were made dependent on morphine and, on day 8, were injected with saline or naloxone.

Diagnosis of malignant granular cell tumor metastatic to bone by fine needle aspiration cytology: a case report.

Background: Malignant granular cell tumor (GCT) is a rare sarcoma that is often difficult to differentiate histologically from its benign counterpart.

Case: A 69-year-old Caucasian man with a long history of multiple GCTs presented with new-onset left shoulder pain and limitation of movement. Radiographic studies revealed a lytic lesion within the left humeral metaphysis and a pathologic fracture.

[An outbreak of human rabies transmitted by a cat in the town of Santander de Quilichao, Colombia, 2008].

Objectives: A sylvatic rabies outbreak during March 2008 caused two human deaths in the town of Santander de Quilichao in Cauca, Colombia. This article describes the diagnostic laboratory techniques used, the field investigation and focus control used, as well as this outbreak's epidemiological significance and implications for public health.

Methods: Rabies was diagnosed by direct immunofluorescence, biological tests involving inoculating mice, histopathology and immunohistochemistry and then typed by using monoclonal antibodies.