33 research outputs found
Superradiance and quantum states on black hole space-times
We consider the definition of the Boulware and Hartle-Hawking states for quantum fields on black hole space-times. The properties of these states on a Schwarzschild black hole have been understood for many years, but neither of these states has a direct analogue on a Kerr black hole. We show how superradiant modes play an important role in the definition of quantum states on Kerr. Superradiance is also present on static black hole space-times, in particular for a charged scalar field on a Reissner-Nordström black hole. We explore whether analogues of the Boulware and Hartle-Hawking states exist in this situation
Case Report: Esophageal squamous cell carcinoma in a 13-year-old boy with a history of esophageal atresia with tracheoesophageal fistula
In adults, esophageal cancers are a global health concern. Esophageal squamous cell carcinoma (ESCC) accounts for approximately 90% of esophageal carcinomas. The prognosis of esophageal cancers remains dismal, with a five-year survival rate below 20%. It typically affects older patients, and for now, ESCC after esophageal atresia has not been reported in patients younger than 18 years. We present an exceptional case of an ESCC in a 13-year-old boy with a history of esophageal atresia and corrective surgery in infancy. After the surgery the patient was lost to surgical follow up for over ten years and then presented to our emergency department with respiratory distress requiring antibiotic therapy and supplemental oxygen. Radiologic imaging revealed a volume reduction of the right lung with bronchiectasis, as well as esophageal stenosis at the level of the previous anastomosis, with an adjacent abscess in the right lung. These changes may have arisen due to a chronic fistula from the esophagus to the right lung. Initial interventional therapy with a stent implantation had no lasting success and, in an effort to prevent further aspiration into the right lung, a cervical esophagus stoma was established, and the patient received prolonged antibiotic treatment. However, a thoracic CT scan performed 4 months later revealed a large, retrospectively progressive prevertebral mass originating from the distal portion of the esophagus below the stenosis, compressing the trachea and the right main bronchus. The patient's condition rapidly worsened and he developed respiratory failure, requiring veno-venous extracorporeal membrane oxygenation. Unfortunately, an endoscopic biopsy revealed an advanced ESCC. With no rational treatment options available, we changed the goals of care to a palliative setting. The key message of this case is that in adolescents with chronic infections, an abscess can potentially mask a malignant transformation. Therefore, in adolescents, with an history of corrective surgery for esophageal atresia and chronic complications, consideration should also be given to the possibility of squamous cell carcinoma of the esophagus
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Background: Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function variants affecting the PAX6 locus. Methods Short-read whole genome sequencing was performed on 51 (39 affected) individuals from 37 different families who had screened negative for mutations in the PAX6 coding region. Results Likely causative mutations were identified in 22 out of 37 (59%) families. In 19 out of 22 families, the causative genomic changes have an interpretable deleterious impact on the PAX6 locus. Of these 19 families, 1 has a novel heterozygous PAX6 frameshift variant missed on previous screens, 4 have single nucleotide variants (SNVs) (one novel) affecting essential splice sites of PAX6 5′ non-coding exons and 2 have deep intronic SNV (one novel) resulting in gain of a donor splice site. In 12 out of 19, the causative variants are large-scale structural variants; 5 have partial or whole gene deletions of PAX6, 3 have deletions encompassing critical PAX6 cis-regulatory elements, 2 have balanced inversions with disruptive breakpoints within the PAX6 locus and 2 have complex rearrangements disrupting PAX6. The remaining 3 of 22 families have deletions encompassing FOXC1 (a known cause of atypical aniridia). Seven of the causative variants occurred de novo and one cosegregated with familial aniridia. We were unable to establish inheritance status in the remaining probands. No plausibly causative SNVs were identified in PAX6 cis-regulatory elements. Conclusion Whole genome sequencing proves to be an effective diagnostic test in most individuals with previously unexplained aniridia
Amino acid transport systems of lysosomes: Possible substitute utility of a surviving transport system for one congenitally defective or absent
Ways in which other transport systems may compensate for one that is genetically defective are considered. Comparisons of the transport systems of organelles (here the lysosome) with the transport system at the plasma membrane has significant implications for chemotherapy.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/44194/1/10540_2005_Article_BF01116456.pd
Inequivalent quantization of the rational Calogero model with a Coulomb type interaction
We consider the inequivalent quantizations of a -body rational Calogero
model with a Coulomb type interaction. It is shown that for certain range of
the coupling constants, this system admits a one-parameter family of
self-adjoint extensions. We analyze both the bound and scattering state sectors
and find novel solutions of this model. We also find the ladder operators for
this system, with which the previously known solutions can be constructed.Comment: 15 pages, 3 figures, revtex4, typos corrected, to appear in EPJ
