Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci.

Endometriosis is a chronic inflammatory condition in women that results in pelvic pain and subfertility, and has been associated with decreased body mass index (BMI). Genetic variants contributing to the heritable component have started to emerge from genome-wide association studies (GWAS), although the majority remain unknown. Unexpectedly, we observed an intergenic locus on 7p15.2 that was genome-wide significantly associated with both endometriosis and fat distribution (waist-to-hip ratio adjusted for BMI; WHRadjBMI) in an independent meta-GWAS of European ancestry individuals. This led us to investigate the potential overlap in genetic variants underlying the aetiology of endometriosis, WHRadjBMI and BMI using GWAS data. Our analyses demonstrated significant enrichment of common variants between fat distribution and endometriosis (P = 3.7 × 10(-3)), which was stronger when we restricted the investigation to more severe (Stage B) cases (P = 4.5 × 10(-4)). However, no genetic enrichment was observed between endometriosis and BMI (P = 0.79). In addition to 7p15.2, we identify four more variants with statistically significant evidence of involvement in both endometriosis and WHRadjBMI (in/near KIFAP3, CAB39L, WNT4, GRB14); two of these, KIFAP3 and CAB39L, are novel associations for both traits. KIFAP3, WNT4 and 7p15.2 are associated with the WNT signalling pathway; formal pathway analysis confirmed a statistically significant (P = 6.41 × 10(-4)) overrepresentation of shared associations in developmental processes/WNT signalling between the two traits. Our results demonstrate an example of potential biological pleiotropy that was hitherto unknown, and represent an opportunity for functional follow-up of loci and further cross-phenotype comparisons to assess how fat distribution and endometriosis pathogenesis research fields can inform each other.

High-resolution computed tomography and histopathological findings in hypersensitivity pneumonitis: a pictorial essay

Abstract Hypersensitivity pneumonitis is a diffuse interstitial and granulomatous lung disease caused by the inhalation of any one of a number of antigens. The objective of this study was to illustrate the spectrum of abnormalities in high-resolution computed tomography and histopathological findings related to hypersensitivity pneumonitis. We retrospectively evaluated patients who had been diagnosed with hypersensitivity pneumonitis (on the basis of clinical-radiological or clinical-radiological-pathological correlations) and had undergone lung biopsy. Hypersensitivity pneumonitis is clinically divided into acute, subacute, and chronic forms; high-resolution computed tomography findings correlate with the time of exposure; and the two occasionally overlap. In the subacute form, centrilobular micronodules, ground-glass opacities, and air trapping are characteristic high-resolution computed tomography findings, whereas histopathology shows lymphocytic inflammatory infiltrates, bronchiolitis, variable degrees of organizing pneumonia, and giant cells. In the chronic form, high-resolution computed tomography shows traction bronchiectasis, honeycombing, and lung fibrosis, the last also being seen in the biopsy sample. A definitive diagnosis of hypersensitivity pneumonitis can be made only through a multidisciplinary approach, by correlating clinical findings, exposure history, high-resolution computed tomography findings, and lung biopsy findings.

Populations of breeding birds in Byers Peninsula, Livingston Island, South Shetland Islands

Data about breeding populations of birds in the Antarctica are rare and fragmented. Thus, information about the status of the breeding populations of Antarctic birds is crucial given the current scenario of climate change, which is particularly acute in Antarctica. This paper presents new information about the populations of the Antarctic tern Sterna vittata, the kelp gull Larus dominicanus, the southern giant petrel Macronectes giganteus, the Antarctic skua Catharacta antarctica lonnbergi, the chinstrap penguin Pygoscelis antarctica and the gentoo penguin Pygoscelis papua on Byers Peninsula (Livingston Island, South Shetland Islands). We used line transects counts to estimate both densities and numbers of nests of the different species. We estimate that there are 398.96 birds km-2 of southern giant petrels (2793 individuals), 62.4 birds km-2 of Antarctic tern (3746 individuals) and 269.1 birds km-2 of kelp gull (1884 individuals). Furthermore, we found 15 nests of Antarctic skua in 25 km2, from which we can estimate that 6091 birds must breed on Byers Peninsula. We also censused two colonies of gentoo penguins (3000 and 1200 pairs) and 50 pairs of chinstrap. Compared to previous estimates, gentoo penguins seem to have increased whereas chinstrap penguin have decreased. Finally, the populations of Antarctic tern, southern giant petrel and kelp gull have stabilized or slightly increased.

Feather mercury levels in seabirds at South Georgia: Influences of trophic position, sex and age

We studied the mercury contamination of 13 species of seabirds breeding on Bird Island, South Georgia, in 1998. Total mercury concentrations in body feather samples of birds caught at their breeding colonies were determined. Among the species, grey-headed albatross (8933 ng g-1) and southern giant petrel (7774 ng g-1) showed the highest, and gentoo penguin (948 ng g-1) the lowest body feather mercury concentrations. Mercury levels were negatively correlated with the proportion of crustaceans (mainly krill) in the species¹ diets, suggesting that the trophic level is the most important factor in explaining the variation of mercury concentrations in Antarctic seabirds. In 4 species studied for age effects among adult birds (grey-headed and black-browed albatross, northern and southern giant petrel), no age-dependent variation in mercury levels was found. Sex differences were also assessed: female gentoo penguins had lower mercury levels than males, which may be related to the elimination of part of the mercury body burden by females into eggs. In contrast, northern giant petrel males had lower levels than females, which may be related to a higher consumption by males of carrion from Antarctic fur seals. In grey-headed albatrosses, mercury levels were 113% higher than in 1989, when this species was investigated at the same site, indicating a possible increase in mercury pollution of the Southern Ocean during the last decade.

Radio continuum and near-ingrared study of the MGRO J2019+37 region

Context. MGRO J2019+37 is an unidentified extended source of very high energy gamma-rays originally reported by the Milagro Collaboration as the brightest TeV source in the Cygnus region. Its extended emission could be powered by either a single or several sources. The GeV pulsar AGL J2020.5+3653, discovered by AGILE and associated with PSR J2021+3651, could contribute to the emission from MGRO J2019+37. Our aim is to identify radio and near-infrared sources in the field of the extended TeV source MGRO J2019+37, and study potential counterparts to explain its emission. Methods: We surveyed a region of about 6 square degrees with the Giant Metrewave Radio Telescope (GMRT) at the frequency 610 MHz. We also observed the central square degree of this survey in the near-infrared Ks-band using the 3.5 m telescope in Calar Alto. Archival X-ray observations of some specific fields are included. VLBI observations of an interesting radio source were performed. We explored possible scenarios to produce the multi-TeV emission from MGRO J2019+37 and studied which of the sources could be the main particle accelerator. Results: We present a catalogue of 362 radio sources detected with the GMRT in the field of MGRO J2019+37, and the results of a cross-correlation of this catalog with one obtained at near-infrared wavelengths, which contains ∼3 × 105 sources, as well as with available X-ray observations of the region. Some peculiar sources inside the ∼1◦ uncertainty region of the TeV emission from MGRO J2019+37 are discussed in detail, including the pulsar PSR J2021+3651 and its pulsar wind nebula PWN G75.2+0.1, two new radio-jet sources, the Hii region Sh 2-104 containing two star clusters, and the radio source NVSS J202032+363158. We also find that the hadronic scenario is the most likely in case of a single accelerator, and discuss the possible contribution from the sources mentioned above. Conclusions: Although the radio and GeV pulsar PSR J2021+3651 / AGL J2020.5+3653 and its associated pulsar wind nebula PWN G75.2+0.1 can contribute to the emission from MGRO J2019+37, extrapolation of the GeV spectrum does not explain the detected multi-TeV flux. Other sources discussed here could contribute to the emission of the Milagro source

Detecting Detection: International Perspectives on the Uses of a Plot

One of the problems with books which are relatively general in nature is that many of the individual contributions tend to be so narrow and specialised that only the author has any knowledge of (or interest in) the issues under discussion. At first sight this appears to be the case with Detecting Detection. Fortunately, however, first impressions are deceiving. Although the essays in the volume deal with writers as diverse and disparate as the Catalano-Spanish writer Juan Marse, the Bulgarian-French philosopher Julia Kristeva and the once-vaunted giant of English literature,Graham Greene, among numerous others, there is much to be enjoyed and learnt, even if some of the works under discussion are unfamiliar to the crime fiction reader and/or scholar to whom the book initially appears to be directed.

Progressive Purkinje Cell Degeneration in tambaleante Mutant Mice Is a Consequence of a Missense Mutation in HERC1 E3 Ubiquitin Ligase

The HERC gene family encodes proteins with two characteristic domains: HECT and RCC1-like. Proteins with HECT domain shave been described to function as ubiquitin ligases, and those that contain RCC1-like domains have been reported to function as GTPases regulators. These two activities are essential in a number of important cellular processes such as cell cycle, cell signaling, and membrane trafficking. Mutations affecting these domains have been found associated with retinitis pigmentosa, amyotrophic lateral sclerosis, and cancer. In humans, six HERC genes have been reported which encode two subgroups of HERC proteins: large (HERC1-2) and small (HERC3-6). The giant HERC1 protein was the first to be identified. It has been involved in membrane trafficking and cell proliferation/growth through its interactions with clathrin, M2-pyruvate kinase, and TSC2 proteins. Mutations affecting other members of the HERC family have been found to be associated with sterility and growth retardation. Here, we report the characterization of a recessive mutation named tambaleante, which causes progressive Purkinje cell degeneration leading to severe ataxia with reduced growth and lifespan in homozygous mice aged over two months. We mapped this mutation in mouse chromosome 9 and then performed positional cloning. We found a GuA transition at position 1448, causing a Gly to Glu substitution (Gly483Glu) in the highly conserved N- terminal RCC1-like domain of the HERC1 protein. Successful transgenic rescue, with either a mouse BAC containing the normal copy of Herc1 or with the human HERC1 cDNA, validated our findings. Histological and biochemical studies revealed extensive autophagy associated with an increase of the mutant protein level and a decrease of mTOR activity. Our observations concerning this first mutation in the Herc1 gene contribute to the functional annotation of the encoded E3 ubiquitin ligase and underline the crucial and unexpected role of this protein in Purkinje cell physiology.

Hemoglobina extracelular gigante de Glossoscolex paulistus: um extraordinário sistema supramolecular hemoproteico

Giant extracellular hemoglobins are considered the summit of complexity in systems that carry oxygen, constituting an extraordinary model system to the study of hemoproteins. This class includes the hemoglobin of the annelid Glossoscolex paulistus that presents high cooperativity, great oligomeric and redox stabilities and ability of oligomeric reassociation. These properties have motivated evaluations about its utilization as prototype of artificial blood and biosensor. Kinetic studies involving autoxidation and detailed spectroscopic characterizations of its ferrous and ferric species have propitiated information about the structure-activity relationship of this macromolecule. The present review analyzes several biochemical issues, evaluating the state-of-art of this subject.

Reencontro de Balanoglossus gigas Fr. Muller no litoral brasileiro

Re-finding of Balanoglossus gigas FR. MUULLER on the brasilian sea shore. Balanoglossus gigas, the giant Enteropneusta, has been described for the first time by Fritz Muller in his notes collected and published by Dr. HERMANN VON IHERING (1898, pg. 35). FR. MULLER found the Balanoglossus on the coats of the State of Santa Catarina in 1884. Once again in 1885 several specimens of that animal were captured by FR. MULLER in the same place. Since that time up to now no references on the occurrence of this animal have been found in the zoological bibliography. During the spring of 1948 Prof. W. BESNARD, Director of he Instituto Paulista de Oceanografia saw some signals indicating the existence of Balanoglossus at the beach of São Sebastião, State of São Paulo. From 1948 to now several attempts have been made to catch the animal alive and complete. On the last September during a shorts visit to the beach of São Sebastião one Balanoglossus was captured and brought to the Department of General and Animal Physiology in good conditions. The animal measured 1.80 m in length. It seems to be the largest Balanoglossus known. According to the descriptions of SPENGEL (1893, pg. 158), and VAN DER HORST (1939) pg. 717) it was possible to identify this Enteropneusta as Balanoglossus gigas FR. MULLER, refound at the Brazilian coast sixty six years after its discovery by FR. MÜLLER.

Mössbauer spectra of iron oxides in the bulk and nanocrystalline states

Magnetic nanoparticles are very important in modern industry. These particles are used in many different spheres of life. Nanoparticles have unusual physical and chemical properties connected both with quantum dimensional effects and with the increased role of the surface atoms. Most clearly the difference between the properties of bulk materials and nanoparticles can be seen in the magnetic properties of these materials. The most typical magnetic properties of nanomaterials are superparamagnetism with the size of the cluster from 1 to 10 nm; single-domain magnetic state of nanoclusters and nanostructures up to 20 nm; magnetization processes connected with magnetic cluster ordering and with its forms and sizes; quantum magnetic tunneling effects when magnetization changes by jumps and giant magnetoresistance effects. For research of the magnetic properties of iron-containing nanostructures, it is convenient to apply Mӧssbauer spectroscopy. In this work a number of nano-sized samples of iron oxides were examined by Mössbauer spectroscopy. The Mössbauer spectra of nanoparticles with various sizes were obtained. Mössbauer spectra of iron oxide nanoparticles were compared with the spectra of bulk samples. It was shown how the spectra of iron oxide nanoparticles change depending on the particle sizes.

Growth, magnetic and transport properties of InSb and II-IV-As2 semiconductors doped with manganese

This thesis is devoted to growth and investigations of Mn-doped InSb and II-IV-As2 semiconductors, including Cd1-xZnxGeAs2:Mn, ZnSiAs2:Mn bulk crystals, ZnSiAs2:Mn/Si heterostructures. Bulk crystals were grown by direct melting of starting components followed by fast cooling. Mn-doped ZnSiAs2/Si heterostructures were grown by vacuum-thermal deposition of ZnAs2 and Mn layers on Si substrates followed by annealing. The compositional and structural properties of samples were investigated by different methods. The samples consist of micro- and nano- sizes clusters of an additional ferromagnetic Mn-X phases (X = Sb or As). Influence of magnetic precipitations on magnetic and electrical properties of the investigated materials was examined. With relatively high Mn concentration the main contribution to magnetization of samples is by MnSb or MnAs clusters. These clusters are responsible for high temperature behavior of magnetization and relatively high Curie temperature: up to 350 K for Mn-doped II-IV-As2 and about 600 K for InMnSb. The low-field magnetic properties of Mn-doped II-IV-As2 semiconductors and ZnSiAs2:Mn/Si heterostructures are connected to the nanosize MnAs particles. Also influence of nanosized MnSb clusters on low-field magnetic properties of InMnSb have been observed. The contribution of paramagnetic phase to magnetization rises at low temperatures or in samples with low Mn concentration. Source of this contribution is not only isolated Mn ions, but also small complexes, mainly dimmers and trimmers formed by Mn ions, substituting cation positions in crystal lattice. Resistivity, magnetoresistance and Hall resistivity properties in bulk Mn-doped II-IV-As2 and InSb crystals was analyzed. The interaction between delocalized holes and 3d shells of the Mn ions together with giant Zeeman splitting near the cluster interface are respond for negative magnetoresistance. Additionally to high temperature critical pointthe low-temperature ferromagnetic transition was observed Anomalous Hall effect was observed in Mn doped samples and analyzed for InMnSb. It was found that MnX clusters influence significantly on magnetic scattering of carriers.

Pseudo-aneurisma gigante de artéria axilar esquerda

A case of a gunshot of the left axilary artery with a giant pseudoaneurism formation with sixteen years of evolution is presented. The 61- years-old male patient present since them a small assintomatic tumoration in infraclavicular localization. In the last eight months the tumor became symptomatic and volumous, reaching 20 cm in diameter, with signals of infection and imminent rupture. The patient was operated on with ligature of the axilary artery and evacuation of the pseudoaneurysm. The surgical handling and endovascular therapeutic options available in the present time are discussed. A short review about the disease as well as a bibliographic update are present. The authors also call attention for the necessity of a correct management of the vascular injures in the event of the first management.

Perfuração gástrica secundária a tricobezoar gigante: descrição de caso e revisão da literatura

Gastric bezoars are impactations offoreign material in lhe stomach. When they are caused by hail; they are named tricho- bezoars. The complications oftrichobezoars are very rare. In this papel; we describe a case of a 16-year-old girl that had a previous history oftricophagia, and had an acute abdominal pain with a pneumoperitoneum in the abdomen radiography. An operation was performed and a gastric perforation was founded associated with a giant trichobezoa7: The trichobezoar was removed by traction through a gastrostomy which was performed in order to remove lhe trichobezoa7: Some fragments of the ulcer were obtained to histological study. The gastrostomy was treated by a gastrorraphy confection. In lhe post- operative period a left subfrenic abscess was revealed and has been drained by laparatomy 15 days after the fisrt operation. After the second surgical procedure the patient had a good evolution, and left the hospital in good health conditions.

Adenoma viloso com transformação carcinomatosa da ampola de Vater

Villous adenomas of the duodenum and ampulla of Vater are uncommon, but they have been diagnosed more frequently with the increasing use of upper gastrointestinal endoscopy. Differential diagnosis with villous adenocarcinoma may be difficult. The authors present a case of a 47-year-old man with a giant villous adenoma of the duodenum, with intermittent jaundice, that was treated by pancreatoduodenectomy.

Hepaticojejunostomia em "y" de roux videoassistida

Management of common bile duct stones in the era of laparoscopic surgery is controversial. The biliary anastomosis is indicated in case of large common bile duct, recurrent stones, giant stones and concomitant common bile duct stricture and duct stones. The development of laparoscopic techniques permits to perform this type of surgery laparoscopically as well as the open procedure.