Terminal Deletion of Chromosome 6q

Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature. Features of previously described patients are also summarized

Induced pluripotent stem cells and regenerative medicine

AbstractStem cells, a special subset of cells derived from embryo or adult tissues, are known to present the characteristics of self-renewal, multiple lineages of differentiation, high plastic capability, and long-term maintenance. Recent reports have further suggested that neural stem cells (NSCs) derived from the adult hippocampal and subventricular regions possess the utilizing potential to develop the transplantation strategies and to screen the candidate agents for neurogenesis, neuroprotection, and neuroplasticity in neurodegenerative diseases. In this article, we review the roles of NSCs and other stem cells in neuroprotective and neurorestorative therapies for neurological and psychiatric diseases. We show the evidences that NSCs play the key roles involved in the pathogenesis of several neurodegenerative disorders, including depression, stroke, and Parkinson’s disease. Moreover, the potential and possible utilities of induced pluripotent stem cells, reprogramming from adult fibroblasts with ectopic expression of four embryonic genes, are also reviewed and further discussed. An understanding of the biophysiology of stem cells could help us elucidate the pathogenicity and develop new treatments for neurodegenerative disorders. In contrast to cell transplantation therapies, the application of stem cells can further provide a platform for drug discovery and small molecular testing, including Chinese herbal medicines. In addition, the high-throughput stem cell-based systems can be used to elucidate the mechanisms of neuroprotective candidates in translation medical research for neurodegenerative diseases

Design, Modeling and Development of a Serial Hybrid Motorcycle with HCCI Engine

This paper discusses the design, modeling, and development of small motorcycle equipped with a HCCI engine in an series hybrid configuration. A mathematical model was developed using MATLAB/Simulink and used to size the powertrain components and to predict fuel economy. A conventional 125 cc spark ignition engine was modified to run in HCCI combustion mode and integrated into a prototype vehicle. Dual-fuel and external EGR strategies were used to upgrade the engine speed and torque capabilities of the engine to meet the requirements of the powertrain. An electrical generator, hub-motor, battery pack and other power electronics devices were used to form the electrical system for the vehicle. The advantages of the proposed design compared to the original motorcycle with SI engine and CVT transmission are: 1) a reduction in noxious emissions due to the HCCI combustion, and 2) higher fuel economy in city driving because of the HCCI engine and series hybrid powertrain. Fuel economy was measured by driving the motorcycle on a chassis dynamometer using a sequence of ECE-40 driving cycles. The overall fuel economy was measured to be 73.7km/L which represents a 139.3% increase in fuel economy over the baseline vehicle

Spatial analyses on seismo-ionospheric precursors observed by GIM TEC and DEMETER during the 2008 M8.0Wenchuan earthquake

An abstract of the Spatial analyses on seismo-ionospheric precursors observed by GIM TEC and DEMETER during the 2008 M8.0Wenchuan earthquake paper presented at EGU General Assembly in 2015

Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia

The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma. Laboratory data showed hyperammonemia and marked lactic acidosis in the blood and cerebrospinal fluid; electroencephalography showed severely suppressed cerebral activity and focal paroxysmal volleys of slow and sharp waves (< 1Hz) over the left hemisphere. Real-time transcranial Doppler ultrasonography showed a brain edema and high peaked systolic and low diastolic flows in basal, anterior, and middle cerebral arteries; however, immediately after a blood exchange transfusion, systolic flows were lower and diastolic flows were higher. The resistance indices were significantly different (means: 0.58 vs. 0.37; p=0.01). The patient was placed on diet therapy. After six blood exchange transfusions and peritoneal dialysis, her neurologic examination results and serum ammonia and lactate values were normal. The authors found that electroencephalography and transcranial Doppler ultrasonography were useful for the diagnosis and follow-up treatment of neonatal citrullinemia

Skeletal Muscle Damage after Pitching Real Games in Collegiate Baseball Pitchers

Baseball pitchers are at risk for elbow and shoulder injuries. It is believed that many arm injuries in baseball pitchers result from cumulative microtrauma. The aim of this study was to investigate skeletal muscle damage after real games in Division I c

Protein kinase A-dependent Neuronal Nitric Oxide Synthase Activation Mediates the Enhancement of Baroreflex Response by Adrenomedullin in the Nucleus Tractus Solitarii of Rats

<p>Abstract</p> <p>Background</p> <p>Adrenomedullin (ADM) exerts its biological functions through the receptor-mediated enzymatic mechanisms that involve protein kinase A (PKA), or neuronal nitric oxide synthase (nNOS). We previously demonstrated that the receptor-mediated cAMP/PKA pathway involves in ADM-enhanced baroreceptor reflex (BRR) response. It remains unclear whether ADM may enhance BRR response via activation of nNOS-dependent mechanism in the nucleus tractus solitarii (NTS).</p> <p>Methods</p> <p>Intravenous injection of phenylephrine was administered to evoke the BRR before and at 10, 30, and 60 min after microinjection of the test agents into NTS of Sprague-Dawley rats. Western blotting analysis was used to measure the level and phosphorylation of proteins that involved in BRR-enhancing effects of ADM (0.2 pmol) in NTS. The colocalization of PKA and nNOS was examined by immunohistochemical staining and observed with a laser confocal microscope.</p> <p>Results</p> <p>We found that ADM-induced enhancement of BRR response was blunted by microinjection of NPLA or Rp-8-Br-cGMP, a selective inhibitor of nNOS or protein kinase G (PKG) respectively, into NTS. Western blot analysis further revealed that ADM induced an increase in the protein level of PKG-I which could be attenuated by co-microinjection with the ADM receptor antagonist ADM_22-52or NPLA. Moreover, we observed an increase in phosphorylation at Ser1416 of nNOS at 10, 30, and 60 min after intra-NTS administration of ADM. As such, nNOS/PKG signaling may also account for the enhancing effect of ADM on BRR response. Interestingly, biochemical evidence further showed that ADM-induced increase of nNOS phosphorylation was prevented by co-microinjection with Rp-8-Br-cAMP, a PKA inhibitor. The possibility of PKA-dependent nNOS activation was substantiated by immunohistochemical demonstration of co-localization of PKA and nNOS in putative NTS neurons.</p> <p>Conclusions</p> <p>The novel finding of this study is that the signal transduction cascade that underlies the enhancement of BRR response by ADM in NTS is composed sequentially of cAMP/PKA and nNOS/PKG pathways.</p

SERPINE2, an inhibitor of plasminogen activators, is highly expressed in the human endometrium during the secretory phase

<p>Abstract</p> <p>Background</p> <p>SERPINE2, also known as protease nexin-1, belongs to the serine protease inhibitor (SERPIN) superfamily. It is one of the potent SERPINs that modulates the activity of plasminogen activators (PAs). PAs and their SERPIN inhibitors, such as SERPINB2 and SERPINE1, were expressed in the human endometrium and were implicated in implantation. However, expression data about SERPINE2 in the human endometrium is still unknown. Thus, we conducted an investigation to reveal the spatiotemporal and cellular expression of SERPINE2 in the human uterus during the menstrual cycle.</p> <p>Methods</p> <p>Seven patients who underwent a hysterectomy and samples of 120 archived patients' endometrial curettage or parts of the uterus that were formalin-fixed and embedded in paraffin. Western blotting was performed to evaluate the specificity and sensitivity of the antibody. Immunohistochemistry was conducted to localize the SERPINE2 expression site. Quantitative analysis was conducted to evaluate expression levels of SERPINE2 in various sub-phases of the menstrual cycle.</p> <p>Results</p> <p>The SERPINE2 protein was primarily detected in the uterine fluid during the mid- and late-secretory phases of the menstrual cycle. It was predominantly expressed in the luminal and glandular epithelium, less in the myometrium, and only dispersedly in certain stromal cells throughout the menstrual cycle. A quantitative analysis of expression levels of SERPINE2 in the glandular epithelium revealed that it was highly expressed in the endometrium during the secretory phase compared to the proliferative phase.</p> <p>Conclusions</p> <p>The SERPINE2 protein is highly expressed in the endometrium during the secretory phase, indicating that it may participate in tissue remodeling involved in implantation.</p

The Source Detection of 28 September 2018 Sulawesi Tsunami by Using Ionospheric GNSS Total Electron Content Disturbance

The 28 September 2018 magnitude Mw7.8 Palu, Indonesia earthquake (0.178° S, 119.840° E, depth 13 km) occurred at 10:02 UTC. The major earthquake triggered catastrophic liquefaction, landslides, and a near-field tsunami. The ionospheric total electron content (TEC) derived from records of 5 ground-based global navigation satellite system (GNSS) receivers is employed to detect tsunami traveling ionospheric disturbances (TTIDs). In total, 15 TTIDs have been detected. The ray-tracing and beamforming techniques are then used to find the TTID source location. The bootstrap method is applied in order to further explore the possible location of the tsunami source based on results of the two techniques, which show the beamforming technique has a slightly better performance on finding possible locations of the tsunami source. Meanwhile, the circle method is employed to examine tsunami signatures of the sea-surface height and video records, and find possible tsunami origin locations. The coincidence of the TTID source location and the tsunami location shows that the ionospheric TEC recorded by local ground-based GNSS receivers can be used to confirm the tsunami occurrence, find the tsunami location, and support the tsunami early warning

Role of Pigment Epithelium-Derived Factor in Stem/Progenitor Cell-Associated Neovascularization

Pigment epithelium-derived factor (PEDF) was first identified in retinal pigment epithelium cells. It is an endogenously produced protein that is widely expressed throughout the human body such as in the eyes, liver, heart, and adipose tissue; it exhibits multiple and varied biological activities. PEDF is a multifunctional protein with antiangiogenic, antitumorigenic, antioxidant, anti-inflammatory, antithrombotic, neurotrophic, and neuroprotective properties. More recently, PEDF has been shown to be the most potent inhibitor of stem/progenitor cell-associated neovascularization. Neovascularization is a complex process regulated by a large, interacting network of molecules from stem/progenitor cells. PEDF is also involved in the pathogenesis of angiogenic eye disease, tumor growth, and cardiovascular disease. Novel antiangiogenic agents with tolerable side effects are desired for the treatment of patients with various diseases. Here, we review the value of PEDF as an important endogenous antiangiogenic molecule; we focus on the recently identified role of PEDF as a possible new target molecule to influence stem/progenitor cell-related neovascularization