A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.

Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, encodes the enzyme NAA10, as the catalytic subunit for the N-terminal acetyltransferase A (NatA) complex, including the accessory protein, NAA15. The first human disease directly involving was discovered in 2011, and it was named Ogden syndrome (OS), after the location of the first affected family residing in Ogden, Utah, USA.

Mueller matrix polarimetry approach for noninvasive glucose sensing with absorbance and anisotropic parameters on fingertips.

A Mueller matrix polarimetry system at 532 nm wavelength is developed for noninvasive glucose sensing in turbid media such as human's fingertip. The system extracts mean absorbance and anisotropic properties, demonstrated numerically and experimentally with phantom glucose samples. It is found that mean absorbance ( ), depolarization index (Δ), and linear dichroism (LD) show linear variation with glucose concentration 100-500 mg/dL.

Impact of preoperative carbohydrate loading on gastric volume in patients with type 2 diabetes.

Background: Enhanced recovery after surgery advocates that consuming carbohydrates two hours before anesthesia is beneficial to the patient's recovery. Patients with diabetes are prone to delayed gastric emptying. Different guidelines for preoperative carbohydrate consumption in patients with diabetes remain controversial due to concerns about the risk of regurgitation, aspiration and hyperglycemia.

Field-Free Magnetoplasmon-Induced Ultraviolet Circular Dichroism Switching in Premagnetized Magnetic Nanowires.

Broadband modulation of magnetic circular dichroism (MCD) using a relatively low magnetic field or by producing a field-free magnetoplasmonic effect in the remnant magnetic state was achieved by the integration of the noble metals (NMs) Au and Ag and the perpendicular magnetic anisotropy of Co with ZnO nanowires (NWs) used as the template. The samples containing NMs revealed MCD sign reversals and enhancements when compared with the original Co/ZnO NWs. The magnetoplasmonic effect of Au close to the visible light spectrum could induce the CD change in the visible region.

Oncogenesis induced by combined Phf6 and Idh2 mutations through increased oncometabolites and impaired DNA repair.

The pathogenesis of acute leukemia involves interaction among genetic alterations. Mutations of IDH1/2 and PHF6 are common and co-exist in some patients of hematopoietic malignancies, but their cooperative effects remain unexplored. In this study, we addressed the question by characterizing the hematopoietic phenotypes of mice harboring neither, Phf6 knockout, Idh2 R172K, or combined mutations.

High-Availability Computing Platform with Sensor Fault Resilience.

Modern computing platforms usually use multiple sensors to report system information. In order to achieve high availability (HA) for the platform, the sensors can be used to efficiently detect system faults that make a cloud service not live. However, a sensor may fail and disable HA protection.

Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials.

() encodes a 365-amino-acid protein containing 2 plant homology domain fingers. Germline mutations of human cause Börjeson-Forssman-Lehmann syndrome, a congenital neurodevelopmental disorder. Loss-of-function mutations of are detected in patients with acute leukemia, mainly of T-cell lineage and in a small proportion of myeloid lineage.

Imbalanced Osteogenesis and Adipogenesis in Mice Deficient in the Chemokine Cxcl12/Sdf1 in the Bone Mesenchymal Stem/Progenitor Cells.

Bone and bone marrow serve as an imperative ecosystem to various types of cells participating in critical body functions. The chemokine Cxcl12, also known as stromal cell-derived factor 1 (Sdf1), is one of the communication factors in the marrow microenvironment that regulates hematopoietic stem/progenitor cell homeostasis. However, the function of Cxcl12 in other bone marrow cells in vivo is yet to be discovered.

Rehabilitative post-acute care for stroke patients delivered by per-diem payment system in different hospitalization paths: A Taiwan pilot study.

Objective: To explore how post-acute care (PAC) for stroke patients delivered by per-diem payment system in varying hospitalization paths affects medical care utilization and functional status.

Design, Setting And Patients: A longitudinal prospective cohort study of 181 acute stroke patients in a southern Taiwan hospital and patients were separated into two groups: patients transferred from regional hospitals (group 1) and patients referred from medical centers (group 2).

Intervention: The intervention was a hospital based, function oriented, 3- to 12-weeks rehabilitative PAC intervention for patients with cerebrovascular diseases.

miR-151-3p Targets TWIST1 to Repress Migration of Human Breast Cancer Cells.

TWIST1 is a highly conserved basic helix-loop-helix transcription factor that contributes to cancer metastasis by promoting an epithelial-mesenchymal transition and repressing E-cadherin gene expression in breast cancer. In this study, we explored the potential role of miR-151 in TWIST1 expression and cancer properties in human breast cancer cells. We found that the human TWIST1 3'UTR contains a potential binging site for miR-151-3p at the putative target sequence 5'-CAGUCUAG-3'.

False Suggestion of Malignant Transformation of Benign Bone Tumor by 18F-FDG PET/CT: A Potential Pitfall.

A 68-year-old man underwent serial F-FDG PET/CT scan follow-up for lung cancer. Then 5.5 years after the initial F-FDG PET/CT scan, the presumed benign bone tumor in the left clavicle showed markedly increased FDG uptake during follow-up; in contrast, the Tc-MDP bone scan paradoxically exhibited no apparent interval change since last bone scan 5.

Crystal structures of Staphylococcal SaeR reveal possible DNA-binding modes.

Two-component system SaeRS of Staphylococcus regulates virulence factor expression through phosphorylation of the DNA-binding regulator SaeR by the sensor histidine kinase SaeS. Here crystal structures of the DNA-binding domain (DBD) of SaeR from two Staphylococcal species Staphylococcus epidermidis and Staphylococcus aureus were determined and showed similar folds. Analyzing the DNA binding activity of three mutants of SeSaeR, we observed that Thr217 is important in binding to the phosphate group of DNA and Trp219 may interact with the base pairs.

Incidental Detection of Shoulder Peripheral T-Cell Lymphoma During the Redistribution Phase of 201Tl Myocardial Perfusion Scintigraphy.

A 74-year-old woman underwent Tl myocardial perfusion scan for cardiac symptoms; increased radiotracer accumulation in the left shoulder was found in the redistribution images only, and the shoulder was normal in the stress images. Suspecting septic arthritis subsequent investigations were performed, and peripheral T-cell lymphoma was diagnosed. Attention should also be paid to extracardiac sites in interpreting redistribution images taken as late as 4 hours apart from stress images because some clinically pertinent ancillary findings may be found in redistribution images only.

Distant metastases in a young woman with Stewart-Treves syndrome demonstrated by an FDG-PET/CT scan.

This 17-year-old woman had chronic congenital lymphedema in the left lower extremity since childhood. She underwent surgeries to remove excessive lymphedematous tissues more than 15 times previously. Histopathology of the specimen from the recent surgery revealed angiosarcoma; therefore, FDG-PET/CT scan was arranged to determine the extent of tumor spread, and distant metastases were discovered.

Asymmetric (99m)Tc-MDP uptake in mineralized tendons might mimic bone lesions: heterotopic tendon mineralization on a (99m)Tc-MDP bone scan and a (18)F-FDG PET/CT scan.

A 55-year-old man was a hepatocellular carcinoma patient, diagnosed by sonography and a biopsy. Because of his musculoskeletal tenderness, a bone scan was performed to exclude skeletal metastasis. A subsequent F-FDG PET/CT scan revealed that the unilateral abnormal uptake seen on the bone scan was actually a mineralized tendon.

Crystallization and preliminary X-ray diffraction analysis of the DNA-binding domain of the response regulator SaeR from Staphylococcus epidermidis.

SaeR is the response regulator of the SaeRS two-component signal transduction system, which is involved in regulating bacterial autolysis and biofilm formation. SaeR comprises an N-terminal receiver domain and a C-terminal effector domain. The effector domain possesses DNA-binding and transactivation functions.

Less may be as good as more: feasible and effective method to differentiate gastric uptake solely on planar gallium scan in the era of SPECT/CT.

We presented a patient with abnormal focal accumulation of 67Ga in the left upper abdomen. After drinking water, we successfully identified the abnormal radioactivity that was from the stomach. Subsequent endoscopic examination did not reveal gastric pathological condition.

Increased 99mTc TRODAT-1 uptake in anaplastic oligodendroglioma.

(99m)Tc TRODAT-1, a selective dopamine transporter SPECT imaging agent, has demonstrated its efficacy in identifying patients with Parkinson disease. Primary or metastatic brain neoplasm uptake of TRODAT-1 is rarely reported in literatures. A 51-year-old female patient underwent TRODAT-1 study for bradykinesia and altered cognitive function; the images showed abnormal extrastriatal uptake in the right frontal lobe subsequent to operation, and pathological examination confirmed anaplastic oligodendroglioma.

Electrophysiologic evidence of spinal accessory neuropathy in patients with cervical myofascial pain syndrome.

Objective: To evaluate whether or not spinal accessory neuropathy exists in patients with cervical myofascial pain syndrome (MFPS).

Design: Prospective study.

Setting: A neurophysiologic laboratory in a university hospital.

Effectiveness of quetiapine for poststroke pathological laughing: case report and review of the literature.

Pathological laughing (PL) is an uncommon distressing symptom that occurs in patients with various neurological disorders. Dysregulation of serotonergic system has been proposed as one of the possible mechanisms resulting in this condition, and selective serotonin reuptake inhibitors have been used for treatment of PL with variable effects. However, the pathogenetic mechanism of PL remains largely elusive, and other treatment choices needs to be explored.

Thermal stability and structural characterization of organic/inorganic hybrid nonlinear optical material containing a two-dimensional chromophore.

In this study, two nonlinear optic hybrid materials with different dimensional alkoxysilane dyes were prepared and characterized. One NLO silane (Cz2PhSO 2OH- TES), a two-dimensional structure based on carbazole, had a larger rotational volume than the other (DR19-TES). Second harmonic ( d 33) analysis verified there is an optimum heating process for the best poling efficiency.

Evidence of neuroaxonal degeneration in myofascial pain syndrome: a study of neuromuscular jitter by axonal microstimulation.

The mechanism of myofascial pain syndrome (MPS) is unclear. Previous reports pointed out that pathogenesis of either referred pain or local twitch response in trigger point of MPS is related to the nerve degeneration and disintegration of motor and sensory nerves in spinal cord. The purpose of the present study is to investigate the evidence of neuromuscular transmission disorders in trigger point muscles of patients with MPS by using stimulated single-fiber electromyography (SFEMG) examination.

[Excretion of beta-elemene from rat respiratory tracts].

Aim: To investigate the excretion of beta-elemene from the respiratory tracts in male Spraque-Dawley rats.

Methods: After a single administration of beta-elemene to rats at the dosage of 75 mg x kg(-1) (i.v.