Mystery Solved: The Identification of the Two Missing Romanov Children Using DNA Analysis

One of the greatest mysteries for most of the twentieth century was the fate of the Romanov family, the last Russian monarchy. Following the abdication of Tsar Nicholas II, he and his wife, Alexandra, and their five children were eventually exiled to the city of Yekaterinburg. The family, along with four loyal members of their staff, was held captive by members of the Ural Soviet. According to historical reports, in the early morning hours of July 17, 1918 the entire family along with four loyal members of their staff was executed by a firing squad. After a failed attempt to dispose of the remains in an abandoned mine shaft, the bodies were transported to an open field only a few kilometers from the mine shaft. Nine members of the group were buried in one mass grave while two of the children were buried in a separate grave. With the official discovery of the larger mass grave in 1991, and subsequent DNA testing to confirm the identities of the Tsar, the Tsarina, and three of their daughters – doubt persisted that these remains were in fact those of the Romanov family. In the summer of 2007, a group of amateur archeologists discovered a collection of remains from the second grave approximately 70 meters from the larger grave. We report forensic DNA testing on the remains discovered in 2007 using mitochondrial DNA (mtDNA), autosomal STR, and Y- STR testing. Combined with additional DNA testing of material from the 1991 grave, we have virtually irrefutable evidence that the two individuals recovered from the 2007 grave are the two missing children of the Romanov family: the Tsarevich Alexei and one of his sisters

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

<p>Abstract</p> <p>Background</p> <p>To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families.</p> <p>Methods</p> <p>We screened four genes implicated in congenital cataract by direct sequencing in two groups of patients; those affected by ARCC associated to MR and those who presented also microcephaly. Among its three genes <it>PAX6</it>, <it>PITX3 </it>and <it>HSF4 </it>are expressed in human brain and one gene <it>LIM2 </it>encodes for the protein MP20 that interact with the protein galectin-3 expressed in human brain and plays a crucial role in its development. All genes were screened by direct sequencing in two groups of patients; those affected by ARCC associated to MR and those who presented also microcephaly.</p> <p>Results</p> <p>We report no mutation in the four genes of congenital cataract and its flanking regions. Only variations that did not segregate with the studied phenotypes (ARCC associated to MR, ARCC associated with MR and microcephaly) are reported. We detected three intronic variations in <it>PAX6 </it>gene: IVS4 -274insG (intron 4), IVS12 -174G>A (intron12) in the four studied families and IVS4 -195G>A (intron 4) in two families. Two substitutions polymorphisms in <it>PITX3 </it>gene: c.439 C>T (exon 3) and c.930 C>A (exon4) in one family. One intronic variation in <it>HSF4 </it>gene: IVS7 +93C>T (intron 7) identified in one family. And three intronic substitutions in <it>LIM2 </it>gene identified in all four studied families: IVS2 -24A>G (intron 2), IVS4 +32C>T (intron 4) and c.*15A>C (3'-downstream sequence).</p> <p>Conclusion</p> <p>Although the role of the four studied genes: <it>PAX6</it>, <it>PITX3</it>, <it>HSF4 </it>and <it>LIM2 </it>in both ocular and central nervous system development, we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, MR and microcephaly.</p

Concept design of low frequency telescope for CMB B-mode polarization satellite LiteBIRD

LiteBIRD has been selected as JAXA’s strategic large mission in the 2020s, to observe the cosmic microwave background (CMB) B-mode polarization over the full sky at large angular scales. The challenges of LiteBIRD are the wide field-of-view (FoV) and broadband capabilities of millimeter-wave polarization measurements, which are derived from the system requirements. The possible paths of stray light increase with a wider FoV and the far sidelobe knowledge of -56 dB is a challenging optical requirement. A crossed-Dragone configuration was chosen for the low frequency telescope (LFT : 34–161 GHz), one of LiteBIRD’s onboard telescopes. It has a wide field-of-view (18° x 9°) with an aperture of 400 mm in diameter, corresponding to an angular resolution of about 30 arcminutes around 100 GHz. The focal ratio f/3.0 and the crossing angle of the optical axes of 90◦ are chosen after an extensive study of the stray light. The primary and secondary reflectors have rectangular shapes with serrations to reduce the diffraction pattern from the edges of the mirrors. The reflectors and structure are made of aluminum to proportionally contract from warm down to the operating temperature at 5 K. A 1/4 scaled model of the LFT has been developed to validate the wide field-of-view design and to demonstrate the reduced far sidelobes. A polarization modulation unit (PMU), realized with a half-wave plate (HWP) is placed in front of the aperture stop, the entrance pupil of this system. A large focal plane with approximately 1000 AlMn TES detectors and frequency multiplexing SQUID amplifiers is cooled to 100 mK. The lens and sinuous antennas have broadband capability. Performance specifications of the LFT and an outline of the proposed verification plan are presented

LiteBIRD satellite: JAXA's new strategic L-class mission for all-sky surveys of cosmic microwave background polarization

LiteBIRD, the Lite (Light) satellite for the study of B-mode polarization and Inflation from cosmic background Radiation Detection, is a space mission for primordial cosmology and fundamental physics. JAXA selected LiteBIRD in May 2019 as a strategic large-class (L-class) mission, with its expected launch in the late 2020s using JAXA's H3 rocket. LiteBIRD plans to map the cosmic microwave background (CMB) polarization over the full sky with unprecedented precision. Its main scientific objective is to carry out a definitive search for the signal from cosmic inflation, either making a discovery or ruling out well-motivated inflationary models. The measurements of LiteBIRD will also provide us with an insight into the quantum nature of gravity and other new physics beyond the standard models of particle physics and cosmology. To this end, LiteBIRD will perform full-sky surveys for three years at the Sun-Earth Lagrangian point L2 for 15 frequency bands between 34 and 448 GHz with three telescopes, to achieve a total sensitivity of 2.16 μK-arcmin with a typical angular resolution of 0.5° at 100 GHz. We provide an overview of the LiteBIRD project, including scientific objectives, mission requirements, top-level system requirements, operation concept, and expected scientific outcomes

Overview of the medium and high frequency telescopes of the LiteBIRD space mission

LiteBIRD is a JAXA-led Strategic Large-Class mission designed to search for the existence of the primordial gravitational waves produced during the inflationary phase of the Universe, through the measurements of their imprint onto the polarization of the cosmic microwave background (CMB). These measurements, requiring unprecedented sensitivity, will be performed over the full sky, at large angular scales, and over 15 frequency bands from 34 GHz to 448 GHz. The LiteBIRD instruments consist of three telescopes, namely the Low-, Medium-and High-Frequency Telescope (respectively LFT, MFT and HFT). We present in this paper an overview of the design of the Medium-Frequency Telescope (89{224 GHz) and the High-Frequency Telescope (166{448 GHz), the so-called MHFT, under European responsibility, which are two cryogenic refractive telescopes cooled down to 5 K. They include a continuous rotating half-wave plate as the first optical element, two high-density polyethylene (HDPE) lenses and more than three thousand transition-edge sensor (TES) detectors cooled to 100 mK. We provide an overview of the concept design and the remaining specific challenges that we have to face in order to achieve the scientific goals of LiteBIRD

Planck 2015 results. V. LFI calibration

We present a description of the pipeline used to calibrate the Planck Low Frequency Instrument (LFI) timelines into thermodynamic temperatures for the Planck 2015 data release, covering four years of uninterrupted operations. As in the 2013 data release, our calibrator is provided by the spin-synchronous modulation of the cosmic microwave background dipole, but we now use the orbital component, rather than adopting the Wilkinson Microwave Anisotropy Probe (WMAP) solar dipole. This allows our 2015 LFI analysis to provide an independent Solar dipole estimate, which is in excellent agreement with that of HFI and within 1σ (0.3% in amplitude) of the WMAP value. This 0.3% shift in the peak-to-peak dipole temperature from WMAP and a general overhaul of the iterative calibration code increases the overall level of the LFI maps by 0.45% (30 GHz), 0.64% (44 GHz), and 0.82% (70 GHz) in temperature with respect to the 2013 Planck data release, thus reducing the discrepancy with the power spectrum measured by WMAP. We estimate that the LFI calibration uncertainty is now at the level of 0.20% for the 70 GHz map, 0.26% for the 44 GHz map, and 0.35% for the 30 GHz map. We provide a detailed description of the impact of all the changes implemented in the calibration since the previous data release

Beyond the Forensic Pathology Investigation: Improving Warfighter Survivability.

The Armed Forces Medical Examiner System (AFMES) conducts forensic pathology investigations in accordance with Title 10 U.S. Code 1471. Since 2004, the AFMES has incorporated advanced radiologic imaging, such as computed tomography, into its protocol. This incorporation has led to increased fidelity in depicting injuries, efficient localization of foreign bodies, and the ability to accurately document medical therapy - all of which enhance the forensic pathology investigation. As with most jurisdictions, information contained in the forensic pathology investigation is disseminated to family members and criminal investigating authorities. In addition, AFMES also disseminates information regarding the location of resuscitative devices to casualty care providers and trainers, collaborates with trauma physicians and medical providers in regards to evaluating injuries and treatment for the assessment of potential improvements in medical care and survivability, and provides information and subject matter expertise to investigative boards and other organizations that reconstruct fatal events. The overarching goal of these additional collaborations is to enhance the understanding of the nature of traumatic injuries, improve casualty care, and ultimately decrease morbidity while improving survivability

Comparison of Military and Civilian Methods for Determining Potentially Preventable Deaths: A Systematic Review.

IMPORTANCE: Military and civilian trauma experts initiated a collaborative effort to develop an integrated learning trauma system to reduce preventable morbidity and mortality. Because the Department of Defense does not currently have recommended guidelines and standard operating procedures to perform military preventable death reviews in a consistent manner, these performance improvement processes must be developed. OBJECTIVES: To compare military and civilian preventable death determination methods to understand the existing best practices for evaluating preventable death. EVIDENCE REVIEW: This systematic review followed the PRISMA reporting guidelines. English-language articles were searched from inception to February 15, 2017, using the following databases: MEDLINE (Ovid), Evidence-Based Medicine Reviews (Ovid), PubMed, CINAHL, and Google Scholar. Articles were initially screened for eligibility and excluded based on predetermined criteria. Articles reviewing only prehospital deaths, only inhospital deaths, or both were eligible for inclusion. Information on study characteristics was independently abstracted by 2 investigators. Reported are methodological factors affecting the reliability of preventable death studies and the preventable death rate, defined as the number of potentially preventable deaths divided by the total number of deaths within a specific patient population. FINDINGS: Fifty studies (8 military and 42 civilian) met the inclusion criteria. In total, 1598 of 6500 military deaths reviewed and 3346 of 19 108 civilian deaths reviewed were classified as potentially preventable. Among military studies, the preventable death rate ranged from 3.1% to 51.4%. Among civilian studies, the preventable death rate ranged from 2.5% to 85.3%. The high level of methodological heterogeneity regarding factors, such as preventable death definitions, review process, and determination criteria, hinders a meaningful quantitative comparison of preventable death rates. CONCLUSIONS AND RELEVANCE: The reliability of military and civilian preventable death studies is hindered by inconsistent definitions, incompatible criteria, and the overall heterogeneity in study methods. The complexity, inconsistency, and unpredictability of combat require unique considerations to perform a methodologically sound combat-related preventable death review. As the Department of Defense begins the process of developing recommended guidelines and standard operating procedures for performing military preventable death reviews, consideration must be given to the factors known to increase the risk of bias and poor reliability