A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data

Statistical tests for Hardy–Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data. In this paper, we analyze complete chromosomes of the 1000 genomes project by using exact test procedures for autosomal and X-chromosomal variants. We find that the rate of disequilibrium largely exceeds what might be expected by chance alone for all chromosomes. Observed disequilibrium is, in about 60% of the cases, due to heterozygote excess. We suggest that most excess disequilibrium can be explained by sequencing problems, and hypothesize mechanisms that can explain exceptional heterozygosities. We report higher rates of disequilibrium for the MHC region on chromosome 6, regions flanking centromeres and p-arms of acrocentric chromosomes. We also detected long-range haplotypes and areas with incidental high disequilibrium. We report disequilibrium to be related to read depth, with variants having extreme read depths being more likely to be out of equilibrium. Disequilibrium rates were found to be 11 times higher in segmental duplications and simple tandem repeat regions. The variants with significant disequilibrium are seen to be concentrated in these areas. For next generation sequence data, Hardy–Weinberg disequilibrium seems to be a major indicator for copy number variation.Peer ReviewedPostprint (published version

Dusty Planetary Systems

Extensive photometric stellar surveys show that many main sequence stars show emission at infrared and longer wavelengths that is in excess of the stellar photosphere; this emission is thought to arise from circumstellar dust. The presence of dust disks is confirmed by spatially resolved imaging at infrared to millimeter wavelengths (tracing the dust thermal emission), and at optical to near infrared wavelengths (tracing the dust scattered light). Because the expected lifetime of these dust particles is much shorter than the age of the stars (>10 Myr), it is inferred that this solid material not primordial, i.e. the remaining from the placental cloud of gas and dust where the star was born, but instead is replenished by dust-producing planetesimals. These planetesimals are analogous to the asteroids, comets and Kuiper Belt objects (KBOs) in our Solar system that produce the interplanetary dust that gives rise to the zodiacal light (tracing the inner component of the Solar system debris disk). The presence of these "debris disks" around stars with a wide range of masses, luminosities, and metallicities, with and without binary companions, is evidence that planetesimal formation is a robust process that can take place under a wide range of conditions. This chapter is divided in two parts. Part I discusses how the study of the Solar system debris disk and the study of debris disks around other stars can help us learn about the formation, evolution and diversity of planetary systems by shedding light on the frequency and timing of planetesimal formation, the location and physical properties of the planetesimals, the presence of long-period planets, and the dynamical and collisional evolution of the system. Part II reviews the physical processes that affect dust particles in the gas-free environment of a debris disk and their effect on the dust particle size and spatial distribution.Comment: 68 pages, 25 figures. To be published in "Solar and Planetary Systems" (P. Kalas and L. French, Eds.), Volume 3 of the series "Planets, Stars and Stellar Systems" (T.D. Oswalt, Editor-in-chief), Springer 201

Ectopic Cushing's Syndrome Unveiling a Metastatic Parotid Carcinoma

Introduction. Adrenocorticotropic hormone (ACTH) ectopic production is a rare cause of Cushing syndrome (CS). The most commonly associated tumours are small-cell lung carcinoma along with bronchial and thymic carcinoids. To date, only 5 cases have been published in the literature featuring ectopic ACTH secretion from metastatic acinic cell carcinoma (ACC) of the parotid gland. We hereby describe a very uncommon case of ectopic CS (ECS) unveiling a metastatic parotid ACC. Case Presentation. A 46-year-old man with hypertension and dyslipidemia diagnosed 4-months before, as well as new-onset diabetes mellitus unveiled 1-month earlier, was referred to emergency department for hypokalemia. Hormonal study and dynamic biochemical tests performed indicated ECS. Imaging and cytological findings pointed toward a likely primary right parotid malignancy with liver metastases. Somatostatin receptor scintigraphy has shown an increased uptake in the parotid gland and mild expression in liver metastasis. The patient underwent right parotidectomy, and histopathologic examination confirmed ACC. Meanwhile, hypercortisolism was managed with metyrapone, ketoconazole, and lanreotide. Despite chemotherapy onset, a rapid disease progression and clinical course deterioration was observed. Conclusion. The present report highlights a rare ECS, exposing a metastatic parotid ACC, with an aggressive and challenging clinical course, representing the first case whose diagnosis of ECS came prior to ACC

EXAME DE PAPANICOLAOU: FATORES QUE INFLUENCIAM AS MULHERES A NÃO RECEBEREM O RESULTADO

The increase in providing services, prevention and treatment of cancer in the uterine neck will be limited in their application, if women do not return to receive the result of the Papanicoulau exam. Not receiving the citopathological reports means discontinued treatment, which impedes efficient therapy for detected lesions. The objective of this study is to identify the reasons that cause women not to receive the results of the preventative exams. The study was carried out with women that had their prevented exam from the year 2005 through June 2006, and did not return to receive the result. A total of 29 women collaborated in the investigation. Factors that made it difficult to receive the results of the Papanicolau exam, according to the interviewed women range from questions related to the organization of the institution to questions related to the individual woman. However, the questions related to the institution represent a percentage much higher (27.3%) in comparison with other questions. From factors that affect women not receiving the results, professionals can intervene in the hospital visit and emphasize the importance of obtaining the result and having regular follow-ups.El aumento en la prestación de servicios, prevención y tratamiento de casos de cáncer de cuello de útero tendrá limitado su ámbito de aplicación, si las mujeres no vuelven para recibir el resultado del examen de Papanicolaou. La no recepción de los informes citopatológicos acarrea discontinuidad del tratamiento, lo que impide terapias eficaces para las lesiones detectadas. Este estudio tiene como objetivo identificar las razones que llevan a las mujeres a no recibir los resultados de los exámenes de prevención. La encuesta se realizó con mujeres que han realizado su examen de prevención en el año 2005 hasta junio de 2006 y no volvieron para recibir el resultado. Un total de 29 mujeres colaboraron en la investigación. Los factores dificultadores para recibir el resultado del examen de Papanicoloau, según las mujeres entrevistadas, van desde cuestiones relacionadas con la organización de la institución a cuestiones relacionadas con la propia mujer. Sin embargo, las cuestiones relacionadas con la institución representan un porcentaje mucho mayor (27,3%) en comparación con las demás. A partir de los factores que influyen en las mujeres a no recibir los informes, los profesionales podrán intervenir en la consulta haciendo hincapié en la importancia de recibir el resultado y tener un seguimiento regular.O incremento na oferta de serviços, na prevenção e tratamento dos casos de câncer de colo uterino terá seu alcance limitado, se as mulheres não retornarem para receber o resultado do exame de Papanicolaou. O não recebimento dos laudos citopatológicos acarreta descontinuidade do tratamento, impedindo ações terapêuticas eficazes para as lesões detectadas. Este estudo teve como objetivo identificar os motivos que levam as mulheres a não receberem os resultados dos exames de prevenção. A pesquisa foi realizada com mulheres que fizeram seu exame de prevenção no ano de 2005 até junho de 2006 e não retornaram para receber o resultado. Um total de 29 mulheres colaboraram com a pesquisa. Os fatores dificultadores para o recebimento do resultado do exame de Papanicoloau, segundo as mulheres entrevistadas, perpassam desde questões ligadas à organização da instituição até questões ligadas à própria mulher. Todavia, as questões ligadas à instituição representaram uma parcela bem maior (27,3%) quando comparada às demais. A partir dos fatores que influenciam as mulheres a não receberem os laudos, os profissionais poderão intervir durante a consulta enfatizando a importância de receber o resultado e ter um seguimento regula

Prospective blind comparative clinical study of two point fixation of zygomatic complex fracture using wire and mini plates

<p>Abstract</p> <p>Background</p> <p>The zygomatic maxillary complex (ZMC) fractures are one of the most frequent injuries of the facial skeleton due to its position and facial contour. Assaults, road traffic accidents and falls are the principal etiologic factors that may cause fractures of zygomatic bone. The different fixation methods are applied to treat the zygomatic bone fractures, with many more classifications which have been described in the literature for the ease of management. The type of the fracture, its severity and associated facial fractures usually interferes the treatment modality.</p> <p>Purpose of study</p> <p>The aim of this paper is to show the results of 18yrs prospective blind comparative study using wire and plate osteosynthesis which needed open reduction and internal fixation involving Type II to Type IV Spissel and Schroll ZMC fractures.</p> <p>Materials and methods</p> <p>Total 80 cases included in the study out of 1780 ZMC cases which were treated using wire and plate osteosynthesis over a period of 18 yrs, involving only Type II to Type IV Spissel and Schroll ZMC fractures. Other types excluded from study to prevent observer bias. All the fixations carried out through Standard Dingman's incision using stainless steel 26 gauze wire and titanium 1.5 mm mini plate system under general anesthesia by single maxillofacial surgeon and evaluated by another maxillofacial surgeon who is blinded for surgical procedure after 2 and 4 wks of follow-up for facial symmetry, wound healing, functional assessment (mouth opening, diplopia), and sensory disturbance. All the data tabulated in Excel software (Microsoft) for statistical analysis. P-value calculated to know the Significance of treatment modality in all aspects.</p> <p>Results</p> <p>Result shows no significant p-values indicating both the operating techniques are equally efficient in the surgical management of ZMC fracture.</p> <p>Conclusion</p> <p>Osteosynthesis by mini plates is simple, logical and effective treatment compared to wire osteosynthesis in regard to stability of fracture fragments. Wire osteosynthesis will be helpful in emergency surgeries or where the mini plates are not available. Even though the wire osteosynthesis is economical compared to mini plate fixation; but the time and skill is required for fixation of wires.</p