Abstract: The invention features panels of genes associated with Sudden Unexpected Death in Pediatrics (SUDP), and methods of using such panels to identify a cause of death, and to select children at risk of SUDP for therapies to treat pathologies that predispose them to SUDP.

Abstract: The present invention relates to methods, compositions and kits for treatment of ribosomal disorders and ribosomopathies, e.g. Diamond Blackfan anemia (DBA). In some embodiments, the invention relates to the use of novel classes of compounds, i.e. inhibitors of RSK (p90S6K); inhibitors of p70S6K; and inhibitors of rps6, to treat ribosomal disorders and ribosomopathies. In some embodiments, the invention relates to the use of specific Chk2 inhibitors and to the use of specific phenothiazine derivatives to treat ribosomal disorders and ribosomopathies, e.g. DBA.

Abstract: A system includes a sensor configured to generate thoracic impedance data associated with a patient for a period of time, a memory storing machine-readable instructions, and a control system communicatively coupled to the sensor. The control system is arranged to provide control signals to one or more electronic devices and including one or more processors configured to execute the machine-readable instructions to analyze the generated thoracic impedance data associated with the patient; determine, based at least in part on the analysis, respiratory function signals and cardiac function signals, and whether the respiratory function signals and cardiac function signals satisfies a predetermined threshold, and cause an operation of the one or more electronic devices to be modified in response to determining the respiratory function signals and cardiac function signals satisfies the predetermined threshold.

Abstract: The present invention relates generally to methods, compositions and kits for treatment of ribosomal disorders and ribosomopathy, e.g. Diamond Blackfan anemia (DBA). In some embodiments, the invention relates to methods for the use of calmodulin inhibitors and calcium channel blockers for treatment of ribosomal disorders and ribosomopathy, e.g. Diamond Blackfan anemia (DBA).

Abstract: Methods for preparing and using collagen extracts and collagen scaffolds are provided. Additionally, methods and related kits for the repair of articular tissue using the collagen material are provided.

Abstract: Provided herein are methods and compositions comprising or using mutant semaphorin polypeptides.

Abstract: Provided herein are compounds that are local anesthetics and useful for inducing selective sensory nerve blockade. Also provided are pharmaceutical compositions and kits comprising the compounds, and methods of inducing selective sensory nerve blockade by administering the compounds and/or compositions to a subject.

Abstract: A tissue clip for adjoining tissues including a body portion, a biasing mechanism interconnecting the body portion to a tissue grasping mechanism, the grasping mechanism having a first condition wherein the grasping mechanism is extending against and away from the body portion and a second condition wherein the grasping mechanism is biased against the body portion. A tissue clip and deployer combination. A method of interconnecting tissue by deploying the tissue clip, puncturing tissue to be interconnected with the tissue clip, and interconnecting the tissue. A method of treating an aneurism by deploying the tissue clip at an aneurism site, closing off the aneurism site with the tissue clip, and treating the aneurism. A method of imaging a surgical procedure with ultrasound by modifying a surface of a metal surgical instrument, and imaging the metal surgical instrument with ultrasound during a surgical procedure.

Abstract: The present disclosure relates to compositions and methods for treating Williams syndrome (WS), herein identified as a neurodevelopmental oligodendrocyte hypomyelination-associated disease, and to compositions and methods for treatment of other neurodevelopmental myelination abnormality diseases or disorders.

Abstract: Disclosed herein are modified Clostridial Botulinum neurotoxin (BoNT) polypeptides with a modified receptor binding domain of Clostridial Botulinum serotype A1 or A2. Modifications include substitution amino acid mutations. Isolated modified receptor binding domains, chimeric molecules, pharmaceutical compositions, and methods of using the same are also disclosed.

Abstract: Described herein are techniques to aid clinicians and researchers in determining a condition of connective tissue as it relates to tissue development, growth and maturation, tissue remodeling and healing following injury, and risk of injury based on a magnetic resonance (MR) image of the tissue. Such techniques may be useful to clinicians by providing insights on factors that influence the growth and maturation of connective tissues as well as those that impact the risk of connective tissue injury and response to treatment. These insights can be used in a variety of ways, including to guide or develop patient specific risk assessment and prevention strategies, treatment plans, and postoperative care plans for individuals at risk of connective tissue injuries and those with injured connective tissues, such as an anterior cruciate ligament (ACL) injury.

Abstract: Antibodies, and antigen-binding fragments thereof, that specifically bind to Cluster of Differentiation 1a (CD1a) are provided. Embodiments include uses, and associated methods of using the antibodies, and antigen-binding fragments thereof.

Abstract: Provided herein are methods and products for detecting analytes in a sample. The analytes may be rare analytes such as biomarkers in a biological sample. These methods make use of nucleic acid nanoswitches that adopt a particular conformation and have a particular length in the presence of an analyte.

Abstract: Methods and apparatus for cleaning a central venous catheter port are disclosed. An apparatus includes a body, a coupling configured to connect the body to the hub, a cleaning cap coupled to the body, and an actuator disposed within the body for rotating and translating the cap relative to the hub. The cleaning cap includes a cap body defining a cavity and a cleaning member disposed within the cavity, the cleaning member having threads that engage with the threads on the hub.

Abstract: Provided herein are polypeptides that are truncated modified recombinant forms of ADAMTS13, nucleic acid molecules encoding the polypeptides, drug delivery compositions and pharmaceutical compositions comprising the polypeptides, and methods of using the polypeptides and compositions (e.g., in the treatment of thrombotic thrombocytopenic purpura (TTP)).

Abstract: An apparatus for measuring a characteristic of a sample using a centrifuge and optical components is disclosed. The centrifuge may be a standard benchtop centrifuge. The optical components may be sized and dimensioned to fit, along with the sample, inside the centrifuge.

Abstract: The present disclosure generally relates to systems and methods for multi-focal imaging, for example, for determining nucleic acids in cells or other samples. In some cases, multiple focal planes may simultaneously be determined, e.g., by using a plurality of detectors, such as a plurality of cameras, which image the same sample, but at least some of which are focused on different focal planes within the sample. Thus, the sample may be imaged in 3 dimensions, e.g., without sample refocusing. In certain cases, this may improve the resolution of imaging, in space and/or time. Various embodiments can be used to increase imaging throughput and/or resolution in image-based approaches, e.g., for single-cell molecular profiling such as multiplexed error robust fluorescence in situ hybridization (MERFISH), or for other applications.

Abstract: Therapeutic chondrisome compositions and related methods are described.

Abstract: Therapeutic chondrisome and mitoplast compositions and related methods are described.

Abstract: The disclosure provides fusion proteins comprising a pleckstrin homology (PH) domain and a variant of Botulinum neurotoxin E (BoNT E) protease that cleaves certain non-canonical protein targets (e.g., PTEN). Fusion proteins described in the disclosure are useful for cleaving target proteins found in a cell, that is, in an intracellular environment. Aspects of the disclosure provide methods for inhibiting PTEN amount, activity, or function in a cell or subject, the methods comprising administering to a call or subject a fusion protein described herein.