[Benefits of early social transition in transgender minors. Family perspectives: qualitative study.] / Beneficios de la transición social temprana en menores transgénero. Perspectivas de familias: estudio cualitativo.

OBJECTIVE: The term trans brings together all transgender identities. The early social transition towards the affirmed gender has benefits in the child's development. For families, transit is a period of great uncertainty, requiring support aimed at families of trans minors. The aim of this paper was to explore the needs and experiencies of parents and close-relatives who supported the social transition of their children. METHODS: We worked with focus groups of functional families of transgender minors who had begun the transition (n=14), with a medium-high educational level and who belonged to urban areas of Tenerife. Through a semi-structured interview, they commented on their experiences in the process of supporting the social transition of their children. The data was recorded in a video recording and processed through content analysis and categorization. RESULTS: Early social transition had positive and immediate benefits on child development as well as in the reduction of anxiety. There was a general improvement in mood, self-esteem, and social and family relationships. The accompaniment of specialists and associations helped in the different social situations and favoured resilience. CONCLUSIONS: Early social transition is positive in the personal and socio-family sphere of the minor. To improve their resilience, families demand accompaniment in this process, as well as meeting other trans people who serve as transpositive references. In addition, they point out the need for specific training in health professionals.

OBJETIVO: El término trans aglutina a todas las identidades transgénero. La transición social temprana hacia el género sentido tiene beneficios en el desarrollo del menor. Para las familias, el tránsito es un periodo de grandes incertidumbres, siendo necesario el acompañamiento dirigido a las familias de menores trans. El objetivo del artículo fue explorar, desde una perspectiva paterna y familiar, las necesidades y experiencias sobre el tránsito de menores trans que sirvieran de referente a otros padres/madres que apoyan el tránsito social de sus hijos e hijas. METODOS: Se trabajó con grupos focales de familias funcionales de menores transgénero que habían iniciado la transición (n=14), de nivel educativo medio-alto y que pertenecían a zonas urbanas de Tenerife. Mediante entrevista semiestructurada, comentaron sus experiencias en el proceso de dar soporte al tránsito social de sus hijos e hijas. Los datos fueron registrados en una videograbación y se procesaron mediante análisis de contenido y categorización. RESULTADOS: La transición social temprana tuvo beneficios positivos e inmediatos en el desarrollo del menor, además de en la disminución de la ansiedad. Hubo una mejora general en el humor, la autoestima y las relaciones tanto sociales como familiares. El acompañamiento de especialistas y asociaciones ayudó en las distintas situaciones sociales y favoreció la resiliencia. CONCLUSIONES: El tránsito social temprano es positivo en la esfera personal y sociofamiliar del menor. Para mejorar su resiliencia, las familias demandan acompañamiento en este proceso, así como conocer otras personas trans que les sirvan como referentes transpositivos. Además, señalan la necesidad de formación específica en los profesionales sanitarios.

Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.

OBJECTIVE: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. DESIGN: Genetic association study. SETTING: Not applicable. PATIENT(S): Five hundred five cases (455 infertile patients diagnosed with NOA and 50 with SO) and 1,050 healthy controls from Spain and Portugal. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genomic DNA extraction from peripheral blood mononuclear cells, genotyping of the SOHLH2 polymorphisms rs1328626 and rs6563386 using the TaqMan allelic discrimination technology, case-control association analyses using logistic regression models, and exploration of functional annotations in publicly available databases. RESULT(S): Evidence of association was observed for both rs6563386 with SO and rs1328626 with unsuccessful sperm retrieval after testicular sperm extraction (TESE-) in the context of NOA. A dominant effect of the minor alleles was suggested in both associations, either when the subset of patients with the manifestation were compared against the control group (rs6563386/SO: P=.021, odds ratio [OR] = 0.51; rs1328626/TESE-: P=.066, OR = 1.46) or against the group of patients without the manifestation (rs6563386/SO: P=.014, OR = 0.46; rs1328626/TESE-: P=.012, OR = 2.43). The haplotype tests suggested a combined effect of both polymorphisms. In silico analyses evidenced that this effect could be due to alteration of the isoform population. CONCLUSION(S): Our data suggest that intronic variation of SOHLH2 is associated with spermatogenic failure. The genetic effect is likely caused by different haplotypes of rs6563386 and rs1328626, which may predispose to SO or TESE- depending on the specific allelic combination.

Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment.

Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphisms (SNPs), previously associated with reduced fertility in Hutterites, are also involved in the genetic susceptibility to idiopathic SpF and specific clinical entities. A significant difference in the allele frequencies of USP8-rs7174015 was observed under the recessive model between the NOA group and both the control group (p = 0.0226, OR = 1.33) and the SO group (p = 0.0048, OR = 1.78). Other genetic associations for EPSTI1-rs12870438 and PSAT1-rs7867029 with SO and between TUSC1-rs10966811 and testicular sperm extraction (TESE) success in the context of NOA were observed. In silico analysis of functional annotations demonstrated cis-eQTL effects of such SNPs likely due to the modification of binding motif sites for relevant transcription factors of the spermatogenic process. The findings reported here shed light on the molecular mechanisms leading to severe phenotypes of idiopathic male infertility, and may help to better understand the contribution of the common genetic variation to the development of these conditions.

Autochthonous cutaneous leishmaniasis in urban domestic animals (Felis catus / Canis lupus familiaris) from central-western Venezuela.

Leishmaniasis is a zoonotic disease caused by intracellular protozoa of the Leishmania genus that are spread and transmitted by sandflies. Natural infection and clinical disease in domestic cats and dogs appear to be rare or perhaps largely under-reported in endemic areas. However, previous reports on infected domestic animals usually implicate the same Leishmania species that affect humans in tropical and subtropical areas of the world suggesting a potential role for zoonotic transmission. In the present study we assessed a representative sample of cats and dogs from endemic urban / suburban areas of Lara state in central western Venezuela. In both dogs and cats, cutaneous disease exhibits a spectrum of manifestations that range from single papules or nodules, which may evolve into ulcerative, plaque-like or scaly lesions. Cytochrome b (cyt b) PCR gene sequence analysis revealed L. mexicana as the causative agent in all cases, including two human cases proceeding from the same study area at the same time the study was carried out. In order to improve our understanding on feline/canine infection with Leishmania mexicana, and address potential zoonotic concerns it is necessary to characterize its enzootic reservoirs and vectors as well as the possible anthropophilic players linking to the peridomestic and domestic cycles.

[Urinary iodine levels and dairy consumption in pre-school children in Southwest Asturias (Spain)]. / Yodurias y consumo de lácteos en preescolares del Área Suroccidental de Asturias.

INTRODUCTION: For decades dairy products have been a major source of iodine for decades. The purpose of this study was to determine the iodine nutritional status and its relationship with dairy consumption in pre-schooler children between 2 to 5 years old in a rural area with 27,847 inhabitants. PATIENTS AND METHODS: It was planned to study 200 participants, selected by random sampling, proportional to the size of the municipality, age, and sex. Parents provided urine samples to analyse urinary iodine, as well as the nutritional information through an interview. A glass of milk or a slice of cheese was considered as a ration, and a portion of other milk derivatives were considered as half rations. The nutritional status of iodine was interpreted with the median (P[percentile]50) of the urinary iodine levels, and iodine intake was estimated using the mean of ration/day of milk and dairy products, fish, and eggs. RESULTS: Of the total of 198 subjects that took part, 193 provide urine specimens for the determination of iodine levels. The mean dairy ration/day was 3.8 (SD:1.4). More than two-thirds (69.9%) drank ≥ 2 glasses of milk/day, and 88.1% consumed a dairy ration of another dairy product. The median urinary iodine level was 184 µg/l, but was dependent on glasses of milk/day (282.5 µg/l ≥ 4 glasses) and/or the type of milk (233.0 µg/l in semi-skimmed). An intake of 115.1 µg/day to 170.2 µg/day of iodine was estimated, and that milk was the food which provided more iodine (89.9 µg/day). CONCLUSIONS: Iodine intake was adequate, although higher than necessary when four or more glasses of milk were consumed, and/or when the milk was skimmed. The consumption of dairy products should be monitored to prevent both excessive and deficient intake of iodine.

Effect of an intrauterine device on the gene expression profile of the endometrium.

CONTEXT: The human endometrium acquires the ability to allow embryo attachment just for a specific period of time during each menstrual cycle. Understanding of the opposite functional status, referred to as refractoriness, can potentially be used to improve receptivity in infertile patients or as an interceptive approach to prevent gestation. OBJECTIVE: The objective of the study was to analyze the endometrial gene expression profile induced by an inert intrauterine device (IUD) at the time of implantation. DESIGN: We used a microarray containing more than 16,000 cDNAs to investigate the gene expression profile of receptive vs. refractory endometrium in the same women induced by the presence of an IUD. We compared the gene expression profile of endometrium obtained at LH+7 (window of receptivity) from the same women (n = 5) at the following time points: month 1, corresponding to the natural cycle before IUD insertion; month 3, just before IUD removal; and months 5 and 15. Data were validated by quantitative RT-PCR for IGF binding protein-3, peroxisome proliferative activated receptor-gamma, glycodelin, and leukemia inhibitory factor and immunohistochemistry for glycodelin. RESULTS: We identified 147 genes significantly dysregulated in the refractory endometrium (78 up- and 69 down-regulated). Interestingly, 52 of these genes have previously been reported to be regulated during window of implantation. Surprisingly, the majority of genes (96.6%) remained dysregulated 2 months after IUD removal, but 1 yr later most of them (80%) returned to normal. CONCLUSIONS: Our results reveal that a refractory endometrium in a fertile woman produced by an IUD is induced by preventing the normal transition to a receptive gene expression profile through effects on a specific subset or cluster of genes that impact on endometrial receptivity.

Surgical treatment of Peyronie's disease with small intestinal submucosa graft patch.

The objective of the study was to report our results using a porcine small intestinal submucosa graft (Surgisis ES, Cook Medical) for tunica albuginea substitution after plaque incision. We retrospectively evaluated patients surgically treated at our institution for Peyronie's disease (PD) by means of plaque incision and porcine small intestinal submucosa grafting (Surgisis) between 2009 and 2013. At the same time a literature review was conducted, searching for similar reports and results. Forty-four patients were identified who had been diagnosed with PD between 2009 and the beginning of 2013, and had been treated with corporoplasty, plaque incision and grafting with Surgisis for a severe curvature of the penis. Curvature of the penis was dorsal in 40 patients (90%) and laterally on the right in 4 patients (10%). Mean duration of surgery was 165 min (range 90-200). Mean size of the graft was 6.5 cm(2) and the mean follow-up was 19.2 months (range 11-48). In patients with severe curvature of the penis due to PD and the need for corporoplasty with plaque incision and graft placement, Surgisis represents a good option with a low risk of complications, below the rate described with previously investigated graft tissues.

MTHFR C677T polymorphism and anatomopathological characteristics with prognostic significance in sporadic colorectal cancer.

Methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism, and folate is implicated in carcinogenesis due to its role in DNA methylation, repair and synthesis. The MTHFR C677T polymorphism is associated with decreased risk of CRC and increased sensitivity to 5-FU treatment. The present study addressed the relationship between this polymorphism and histopathological and immunohistochemical characteristics of prognostic significance in 50 patients from the Canary Islands. No differences were found between the MTHFR C677T genotypes with respect to tumor budding, tumor necrosis, desmoplastic fibrosis and tumoral eosinophilia. No significant differences were found in Ki-67, bcl-2 (cytoplasmic and nuclear), CD31, CD3+ T lymphocytes (both stromal and intraepithelial) and peritumoral CD20+ B lymphocytes. In carriers of the MTHFR CC variant, tumor margins were infiltrative more frequently (68.7%) than in CT+TT carriers (33.3%, p=0.03). In addition, wild-type CC genotype showed stromal CD20+ B lymphocytes (68.8%) more often than CT+TT carriers (33.3%, p=0.03). Both parameters indicate a better tumor prognosis when the MTHFR 677T variant is present.

Effects of micronutrients on metal toxicity.

There is growing evidence that micronutrient intake has a significant effect on the toxicity and carcinogenesis caused by various chemicals. This paper examines the effect of micronutrient status on the toxicity of four nonessential metals: cadmium, lead, mercury, and arsenic. Unfortunately, few studies have directly examined the effect of dietary deficiency or supplementation on metal toxicity. More commonly, the effect of dietary alteration must be deduced from the results of mechanistic studies. We have chosen to separate the effect of micronutrients on toxic metals into three classes: interaction between essential micronutrients and toxic metals during uptake, binding, and excretion; influence of micronutrients on the metabolism of toxic metals; and effect of micronutrients on secondary toxic effects of metals. Based on data from mechanistic studies, the ability of micronutrients to modulate the toxicity of metals is indisputable. Micronutrients interact with toxic metals at several points in the body: absorption and excretion of toxic metals; transport of metals in the body; binding to target proteins; metabolism and sequestration of toxic metals; and finally, in secondary mechanisms of toxicity such as oxidative stress. Therefore, people eating a diet deficient in micronutrients will be predisposed to toxicity from nonessential metals.

[Prevention of cholelithiasis with ascorbic acid. Experimental study in hamsters]. / Prevención de la colelitiasis con acido ascórbico. Estudio experimental en el hamster.

Cholesterol lithogenesis is the end result of hepatic microsomal enzymatic alterations which determine an increase in cholesterol synthesis (HMG CoA reductase) and a decrease in its transformation into bile salts (7 alpha hydroxylase). Therefore biliary cholesterol excretion is increased while bile salt excretion is diminished. Ascorbic Acid (A.A.) seems capable of reversing those enzymatic derrangements in scorbutic animals. Since hamsters are able to synthesize A.A., we evaluated its effect used in high doses during diet induced lithogenesis. Two groups of 6 weeks old, male hamsters, were fed with a lithogenic diet for 30 days. Group A received the usual amount of A.A. contained in the diet (0.25 mg/day/manster) while group B had supplementary A.A. added to drinking water (5 mg/day/hamster). Thirteen out of twenty of group A (65%) and 5 out of 20 of group B (25%) developed cholesterol calculi (p 0.05). Less stones were found in the gallbladders of hamsters fed with supplementary A.A. It is concluded that A.A. in this model, has an inhibitory effect on lithogenesis. The possible mechanism seems to be related to A.A. influence on the microsomal enzymes involved in lithogenesis. These findings, plus the lack of undesirable secondary effects of supplementary A.A. suggest a potential therapeutic role in human cholelithiasis.

[Glove perforation in surgery and protective effect of double gloves]. / Incidencia de la perforación de los guantes en cirugía y efecto protector del doble guante.

OBJECTIVE: To investigate the incidence of glove perforation in programmed surgery and compare perforation rates between single-gloves and double-gloves. To evaluate the extent to which glove perforations remain undetected during surgery. METHOD: Randomized and controlled trial. A one year of study period in 2008 consisting of programmed surgeries at the Canary Islands University Hospital. Gloves, randomized into single or double, worn by surgeons, assistants and scrub nurses were analyzed using the Water Leak Test (EN455-1) for 3 min after surgery ended to detect leakage. RESULTS: A total of 1537 gloves were examined during 113 operations, 7 perforations were noticed during the operation and 104 unnoticed, especially in mayor surgery. Of these, 43 perforations (41.3%) occurred while wearing single gloves and 51 (49%) in the outer of a double glove. Only 10 perforations (9.6%) were found in the inner glove. The perforation rate for surgeons was 9.85%, were slightly greater than nurses at 6,91%, but significantly greater that the rate for assistants, 4,04% (p<0.001). CONCLUSIONS: We conclude that double gloving is effective in surgery, inasmuch as the barrier protection was maintained by the inner glove in four out of five cases when the outer glove was inadvertently perforated. Surgical teams must balance the improved safety of double gloving with the possible discomfort and reduced sensitivity.

Toxicity and metabolism of subcytotoxic inorganic arsenic in human renal proximal tubule epithelial cells (HK-2).

Arsenic is an environmental toxicant and a human carcinogen. The kidney, a known target organ of arsenic toxicity, is critical for both in vivo arsenic biotransformation and elimination. This study investigates the potential of an immortalized human proximal tubular epithelial cell line, HK-2, to serve as a representative model for low level exposures of the human kidney to arsenic. Subcytotoxic concentrations of arsenite (< or = 10 micromol/L) and arsenate (< 100 micromol/L) were determined by leakage of LDH from cells exposed for 24 h. Threshold concentrations of arsenite (between 1 and 10 micromol/L) and arsenate (between 10 and 25 micromol/L) were found to affect MTT processing by mitochondria. Biotransformation of subcytotoxic arsenite or arsenate was determined using HPLC-ICP-MS to detect metabolites in cell culture media and cell lysates. Following 24 h, analysis of media revealed that arsenite was minimally oxidized to arsenate and arsenate was reduced to arsenite. Only arsenite was detected in cell lysates. Pentavalent methylated arsenicals were not detected in media or lysates following exposure to either inorganic arsenical. The activities of key arsenic biotransformation enzymes--MMAV reductase and AsIII methyltransferase--were evaluated to determine whether HK-2 cells could reduce and methylate arsenicals. When compared to the activities of these enzymes in other animal tissues, the specific activities of HK-2 cells were indicative of a robust capacity to metabolize arsenic. It appears this human renal cell line is capable of biotransforming inorganic arsenic compounds, primarily reducing arsenate to arsenite. In addition, even at low concentrations, the mitochondria are a primary target for toxicity.

Adenocarcinoma y carcinoma neuroendocrino de la vesícula biliar: presentación de un caso con estudio inmunocitoquímico / Neuroendocrine carcinoma and adenocarcinoma of the gallbladder: report of a case with immunocytochemical study

Se informa de un caso de adenocarcinoma de Vesícula Biliar, asociado a un carcinoma Neuroendocrino,en una mujer de 79 años y, se revisa la literatura al respecto. Se observaron gránulos argirófilos en las áreas de Carcinoma Neuroendocrino. Los estudios inmunocitoquímicos para gonadotrofinas coriónicas y antígenos carcinoembrionario, fueron positivos en las áreas de Adenocarcinoma. Tumores compuestos con estas características han sido descritas en otras localizaciones. Este parece ser el séptimo caso de tumor conpuesto de la Vesícula Biliar