Pompe disease diagnosis and management guideline

ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Duke Univ, Med Ctr, Durham, NC 27706 USAOregon Hlth Sci Univ, Portland, OR 97201 USANYU, Sch Med, New York, NY USAUniv Florida, Coll Med, Powell Gene Therapy Ctr, Gainesville, FL 32611 USAIndiana Univ, Bloomington, in 47405 USAUniv Miami, Miller Sch Med, Coral Gables, FL 33124 USAHarvard Univ, Childrens Hosp, Sch Med, Cambridge, MA 02138 USAUniversidade Federal de São Paulo, São Paulo, BrazilColumbia Univ, New York, NY 10027 USANYU, Bellevue Hosp, Sch Med, New York, NY USAColumbia Univ, Med Ctr, New York, NY 10027 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc

Use of Hydroxychloroquine and Chloroquine During the COVID-19 Pandemic: What Every Clinician Should Know.

Two medications often used for treatment of immune-mediated conditions, hydroxychloroquine and chloroquine, have recently attracted widespread interest as potential therapies for coronavirus disease 2019. The authors of this commentary provide guidance for clinical decision making for patients with coronavirus disease 2019 as well as for patients with rheumatologic conditions, such as systemic lupus erythematosus and rheumatoid arthriti

Quantum-dot spin–photon entanglement via frequency downconversion to telecom wavelength

Long-distance quantum teleportation and quantum repeater technologies require entanglement between a single matter quantum bit (qubit) and a telecommunications (telecom)-wavelength photonic qubit1, 2, 3, 4, 5. Electron spins in III–V semiconductor quantum dots are among the matter qubits that allow for the fastest spin manipulation6, 7 and photon emission8, 9, but entanglement between a single quantum-dot spin qubit and a flying (propagating) photonic qubit has yet to be demonstrated. Moreover, many quantum dots emit single photons at visible to near-infrared wavelengths, where silica fibre losses are so high that long-distance quantum communication protocols become difficult to implement10. Here we demonstrate entanglement between an InAs quantum-dot electron spin qubit and a photonic qubit, by frequency downconversion of a spontaneously emitted photon from a singly charged quantum dot to a wavelength of 1,560 nanometres. The use of sub-10-picosecond pulses at a wavelength of 2.2 micrometres in the frequency downconversion process provides the necessary quantum erasure to eliminate which-path information in the photon energy. Together with previously demonstrated indistinguishable single-photon emission at high repetition rates11, 12, the present technique advances the III–V semiconductor quantum-dot spin system as a promising platform for long-distance quantum communication

Inhibition of Cell Proliferation by an Anti-EGFR Aptamer

Na Li is with AM Biotechnologies, Hong Hanh Nguyen is with University of California Los Angeles, Michelle Byrom is with UT Austin, Andrew D. Ellington is with UT Austin.Aptamers continue to receive interest as potential therapeutic agents for the treatment of diseases, including cancer. In order to determine whether aptamers might eventually prove to be as useful as other clinical biopolymers, such as antibodies, we selected aptamers against an important clinical target, human epidermal growth factor receptor (hEGFR). The initial selection yielded only a single clone that could bind to hEGFR, but further mutation and optimization yielded a family of tight-binding aptamers. One of the selected aptamers, E07, bound tightly to the wild-type receptor (Kd = 2.4 nM). This aptamer can compete with EGF for binding, binds to a novel epitope on EGFR, and also binds a deletion mutant, EGFRvIII, that is commonly found in breast and lung cancers, and especially in grade IV glioblastoma multiforme, a cancer which has for the most part proved unresponsive to current therapies. The aptamer binds to cells expressing EGFR, blocks receptor autophosphorylation, and prevents proliferation of tumor cells in three-dimensional matrices. In short, the aptamer is a promising candidate for further development as an anti-tumor therapeutic. In addition, Aptamer E07 is readily internalized into EGFR-expressing cells, raising the possibility that it might be used to escort other anti-tumor or contrast agents.This work was funded by The National Institutes of Health (http://grants.nih.gov) Grant #R21 CA135315, The Susan G. Komen Foundation (http://ww5.komen.org/) Grant # 29748/98288845, and The Welch Foundation (http://www.welch1.org/) Grant #F-1654. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.Cellular and Molecular Biolog