Controversy over sentinel lymph node detection in endometrial cancer.

In the last decade, the procedure of sentinel lymph node biopsy has been introduced in low-risk endometrial cancer, being optional in intermediate- and high-risk cancer. However, until the last year, there was no consensus regarding the group of patients to whom to apply it, the best tracer to use or the site of injection. In this paper, we present in a multidisciplinary view the most controversial issues about the sentinel lymph node procedure in endometrial cancer, emphasizing the pros and cons of the different tracers available: radiotracers, hybrid tracers and indocyanine green.

Allele diversity of the killer cell immunoglobulin-like receptors KIR3DL1/S1 and the combination with their HLA ligands in Mexican Mestizos from Mexico City.

Killer cell immunoglobulin-like receptors (KIRs), expressed on Natural Killer (NK) cells, activate/inhibit NK cell function through interactions with their HLA-A, B and C ligands. KIR3DL1 is one of the most polymorphic genes and its effect varies depending on the interaction of the specific allotype with its Bw4 ligand. We investigated the allelic diversity of KIR3DL1/S1 using sequence based typing and we typed as well, their Bw4 ligands in Mexican Mestizos of Mexico City. The results showed that this population has a great KIR3DL1 allelic diversity with ∗01502 (19.9%), ∗00101 (13.2%) and ∗00501 (12.8%) being the most common alleles, while KIR3DS1 showed predominance of ∗01301 (86%); these data agree with the diversity found in most populations studied. At least one KIR3DL1-HIGH surface expression allele was present in 67.5% of the subjects. Phylogenetic comparisons between Mestizos and 28 different populations showed that allelic diversity of KIR3DL1/S1 was similar in Mexican Mestizos from Mexico and in Hispanics from USA. Knowledge of KIR and MHC diversity worldwide is fundamental for understanding the impact of KIR and KIR-ligand polymorphism on NK cell effector functions and is relevant in genetic anthropology, disease association and transplantation.

Reduction of CO2 diffuse emissions from the traditional ceramic industry by the addition of Si-Al raw material.

The fabrication of ceramics can produce the emission of several gases, denominated exhaust gases, and also vapours resulting from firing processes, which usually contain metals and toxic substances affecting the environment and the health of workers. Especially harmful are the diffuse emissions of CO2, fluorine, chlorine and sulphur from the ceramics industry, which, in highly industrialized areas, can suppose an important emission focus of dangerous effects. Concerning CO2, factories that use carbonate-rich raw materials (>30% carbonates) can emit high concentrations of CO2 to the atmosphere. Thus, carbonate reduction or substitution with other raw materials would reduce the emissions. In this contribution, we propose the addition of Al-shales to the carbonated ceramic materials (marls) for CO2 emission reduction, also improving the quality of the products. The employed shales are inexpensive materials of large reserves in SW-Spain. The ceramic bodies prepared with the addition of selected Al-shale to marls in variable proportions resulted in a 40%-65% CO2 emission reduction. In addition, this research underlines at the same time that the use of a low-price raw material can also contribute to obtaining products with higher added value.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients.

The life cycle impact assessment applied to the Domingo Rubio tidal system by the study of seasonal variations of the aquatic eutrophication potential.

The innovative technique of Life Cycle Impact Assessment (LCIA) applied to dynamic environmental systems has been recently developed. In this work we investigate a complex system, the Domingo Rubio tideland (Huelva, Spain), where a tidal marsh and a continental lagoon converge. This wetland, catalogued as Natural Park by the Andalusia government, is subjected to a high eutrophicant pressures related to the strawberry culture and the inputs coming from industrial wastes. NO(2)(-), NO(3)(-) and PO(4)(3-) were analyzed in 41 water samples, obtaining values up to 100mg L(-1) Σ(NO(2)(-), NO(3)(-)) and 18.5mg L(-1) PO(4)(3-). All these values exceed the accepted levels by the European Environment Agency. N/P ratios and the Aquatic Eutrophication Potentials (AEP) for N and P showed a constant imbalance of the system. During one tidal cycle, the tidal channel can have both N and P as limiting nutrient (P is the limiting nutrient during low tide and N is during high tide) and there exists an alternation of AEP domination too between N and P in the continental area, what points to an excess of both nutrients all over the study area, and to the necessity of diminishing the nutrient inputs and a higher control on these pollution sources as well.

Multi-source water pollution in a highly anthropized wetland system associated with the estuary of Huelva (SW Spain).

Major ions, nutrients, trace elements and pesticides distribution were studied in a coastal wetland heavily impacted by human development in Spain. Past land use has altered the local hydrodynamics leading to the partitioning of the ecosystem into a tideland subject to marine influence, and an artificial freshwater reservoir created by stream impoundment. The tideland stretch is flooded twice a day with a heavy metal plume that emerges from the mine-polluted estuary of Huelva and propagates landward depicting the same dispersal trend of major seawater ions. Additionally, the tidal channel receives acid discharges from industrial point sources that contribute to metal enhancement. The impounded area and stream tributaries are affected by agrochemicals runoff (nitrate, phosphate, pendimethalin, simazine, diuron and therbuthylazine) from surrounding agricultural lands. The tidal regime plays a crucial role in the transport and dispersion of pollutants, except in the artificial reservoir where freshwater exhibits a seasonal mineralization pattern.

Homeopatía fundamentos científicos / Scientific bases of homeopathy

La homeopatía es un sistema terapéutico que consiste en administrar sustancias en dosis infinitesimales y que, en un sujeto sano, producirán los mismos síntomas que La enfermedad que vamos a tratar. Cada tratamiento exige una “individualización” meticulosa. La práctica de la homeopatia consiste en buscar los puntos de contacto existentes entre los síntomas que experimentalmente produce un remedio y los síntomas que presenta el enfermo. Em múltiples ensayos clínicos la homeopatia difiere del placebo, aunque su efecto no sea explicable por la medicina tradicional.

The present environmental scenario of the Nador Lagoon (Morocco).

In this paper, we present a multivariate approach (waters, sediments, microfauna) concerning the environmental state of the Nador Lagoon (NE Morocco). The normal water quality parameters (salinity, pH, nutrients) of the dominant marine flows are altered by local fecal water effluents, urban discharges, sewages derived from a water treatment station, and residues originated in a slaughterhouse. The geochemical analyses carried out in surficial sediment samples show very high concentrations of all metals studied near an old iron mine and moderate contents between Nador and its treatment station. Ostracods are good bioindicators of these environmental impacts, with the presence of a highly brackish assemblage in the quieter, more confined areas or the appearance of opportunistic species under hypoxic conditions. In addition, these microcrustaceans are absent in polluted bottom sediments or areas with high hydrodynamic gradients, whereas they decrease in both density and diversity if the subaerial exposure increases.

Residual pollution load of soils impacted by the Aznalcóllar (Spain) mining spill after clean-up operations.

By comparing total concentrations of potentially toxic elements in soils affected by the Aznalcóllar mining spill with those of the adjacent unaffected soils, it can be inferred that after the sludge removal, there still exists a considerable amount of residual pollution. This exceeds the suitable levels for cultivation, especially in the case of arsenic for which total concentrations are in the range of values above which eco-toxicity is considered to be possible. Elemental distribution in the soil seems to be determined by two distinctive associations (As-Pb-Hg-Sb and Cu-Zn-Cd) with different geochemical behaviours.

[Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics]. / Síndrome de Brachmann de Lange en nuestro medio: características clínicas y epidemiológicas.

INTRODUCTION: We present the study of the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in our population. PATIENTS AND METHODS: In this study we present the analysis of 13 cases of Brachmann-de Lange syndrome identified among 24,696 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1996. RESULTS: The minimum estimation of the prevalence in our population is 0.97 per 100,000 live births. We have epidemiologically confirmed the presence of intrauterine growth retardation and have observed that parental ages tend to be relatively young. We have observed a wide range of clinical expression of this syndrome. One hundred percent of our cases have limb reduction defects, followed in frequency by craniofacial alterations (84.62%), abnormal hair distribution (76.92%) and genital defects (69.23%). Upper limbs are predominantly affected and one case of diaphragmatic hernia is worth mentioning. We underline the importance of the differential diagnosis with Fryns'syndrome. CONCLUSIONS: The cases studied correspond to the most severe form of the syndrome, reason for which the prevalence is a minimal estimate. However, the mild forms of the syndrome are more frequent and it is important to consider that the face, especially the form of the eyebrow, could be a good guide for the diagnosis of mild forms of the syndrome.

[Encephalopathy, convulsions and hypopotassemia in theophylline poisoning: a case analysis]. / Encefalopatía, convulsiones e hipopotasemia en la intoxicación teofilínica: análisis de un caso.

A 73-year-old man was admitted to our hospital after convulsive seizures preceded by encephalopathy lasting one week. He had a history of long-standing chronic obstructive pulmonary disease and analysis showed hypokalemia, respiratory alkalosis and toxic levels of theophylline. We discuss the severity of the convulsions and arrhythmias, the high incidence of hypokalemia in theophylline poisoning, as well as the role of hypokalemia in the pathogenesis of the convulsions and the high level of mortality in this type of intoxication. Other possible mechanisms involved in theophylline encephalopathy are mentioned, along with the controversial use of theophylline for continuous treatment of chronic obstructive pulmonary disease.

Peripheral neuropathy in Ehlers-Danlos syndrome.

Two unrelated male patients with clinical manifestations of Ehlers-Danlos syndrome type III and peripheral neuropathy are presented. At age 13 years, one developed bilateral brachial plexus palsy unrelated to trauma and 2 years later, a right lumbosacral plexopathy. The other presented at age 3 years with a left brachial plexopathy after sustaining a fracture of the lateral condyle of the right humerus. In both patients, nerve conduction velocities demonstrated conduction block across the brachial plexus and recovery was incomplete, indicating that peripheral neuropathy is a serious complication of Ehlers-Danlos syndrome. Its prompt diagnosis facilitates the care of patients with this syndrome. Increased ligament laxity/stretchability and mechanical trauma may play an important role in the pathogenesis of the neuropathy.

Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis.

We have studied 9 cases with the combination of some form of holoprosencephaly and any degree of caudal dysgenesis. The cases were identified through the Spanish Collaborative Study of Congenital Malformations (ECEMC). Of the 9 cases, 6 infants had an aneuploidy syndrome, one had Meckel syndrome, and 2 cases were of unknown etiology. We determined that the prevalence figure for the association of both conditions in the same child was 0.08 per 10,000 livebirths, and 18.8 times higher for stillbirths (i.e., 1.50/10,000). This prevalence is significantly higher than what would be expected by chance.