A compound heterozygous mutation causes congenital thrombotic thrombocytopenic purpura: a case report.

Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). Here, we report a 21-year-old male cTTP patient with a compound heterozygous mutation.

Efficacy and Safety of Nerve Growth Factor in Treating Neurotrophic Keratitis Patients: A Meta-Analysis.

Nerve growth factor has been approved for treating neurotrophic keratitis in Europe and the United States. However, its clinical efficacy and safety profile in neurotrophic keratitis patients have not been systematically evaluated. Therefore, this study systematically assessed the efficacy and safety of nerve growth factor (NGF) in treating patients with neurotrophic keratitis.

Establishment of human acute monocytic leukemia model with systemic infiltration in NPG mice.

A model construction of systemic acute leukemia is challenging. Herein, we established a systemic leukemia mouse model using highly immunodeficient NPG mice without any immunosuppressive treatments. NPG mice received tail intravenous injection of SHI-1 cells at the concentration of 1×10 cells (group A) or 5×10 cells (group B) and randomly sacrificed each seven days post-inoculation.

Rapamycin increases leukemia cell sensitivity to chemotherapy by regulating mTORC1 pathway-mediated apoptosis and autophagy.

This study investigated the effect of rapamycin alone and in combination with chemotherapy (doxorubicin and cytarabine) on AML. Human acute monocytic leukemia cell line SHI-1 and NPG AML model mice created by intravenous injection of SHI-1 cell were treated with rapamycin, chemotherapy, or rapamycin plus chemotherapy. Analysis by cell counting kit-8, western blot, flow cytometry, and immunohistochemistry was performed, and results suggested that both rapamycin and chemotherapy inhibited proliferation of SHI-1 cells both in vitro and in vivo, suppressed neoplasm growth in vivo, and promoted survival of NPG AML mice.

A rare sequelae of esophageal perforation: Fibrosing mediastinitis.

Fibrosing mediastinitis (FM) is a rare disease caused by different causes. If left untreated, the prognosis is poor. The common causes of FM are and infection.

Mechanical properties, durability and environmental assessment of low-carbon cementitious composite with natural fibrous wollastonite.

Cementitious composite is one of the most widely used construction materials around the world, but cement production is accompanied by energy waste and CO emission. Wollastonite, a natural fibrous silicate mineral, can be a potential supplementary cementing materials (SCMs) for cementitious composite owing to its similar calcium silicate system, and it has an eco-friendly and convenient production process. Furthermore, its unique fibrous structure can possibly act as reinforcement for the cement matrix.

Modeling of ionizing radiation-induced chromosome aberration and tumor prevalence based on two classes of DNA double-strand breaks clustering in chromatin domains.

There has been some controversy over the use of radiobiological models when modeling the dose-response curves of ionizing radiation (IR)-induced chromosome aberration and tumor prevalence, as those curves usually show obvious non-targeted effects (NTEs) at low doses of high linear energy transfer (LET) radiation. The lack of understanding the contribution of NTEs to IR-induced carcinogenesis can lead to distinct deviations of relative biological effectiveness (RBE) estimations of carcinogenic potential, which are widely used in radiation risk assessment and radiation protection. In this work, based on the initial pattern of two classes of IR-induced DNA double-strand breaks (DSBs) clustering in chromatin domains and the subsequent incorrect repair processes, we proposed a novel radiobiological model to describe the dose-response curves of two carcinogenic-related endpoints within the same theoretical framework.

Phosphorus biorecovery from wastewater contaminated with multiple nitrogen species by a bacterial consortium.

Recovering finite and non-substitutable phosphorus from liquid waste streams through bio-mediated techniques has attracted increasing interest, but current approaches are incredibly dependent on ammonium. Herein, a process to recover phosphorus from wastewater under multiple nitrogen species conditions was developed. This study compared the effects of nitrogen species on the recovery of phosphorus resources by a bacterial consortium.

Microgravity alters the expressions of DNA repair genes and their regulatory miRNAs in space-flown Caenorhabditis elegans.

During spaceflight, multiple unique hazardous factors, particularly microgravity and space radiation, can induce different types of DNA damage, which pose a constant threat to genomic integrity and stability of living organisms. Although organisms have evolved different kinds of conserved DNA repair pathways to eliminate this DNA damage on Earth, the impact of space microgravity on the expressions of these DNA repair genes and their regulatory miRNAs has not been fully explored. In this study, we integrated all existing datasets, including both transcriptional and miRNA microarrays in wild-type (WT) Caenorhabditis elegans that were exposed to the treatments of spaceflight (SF), spaceflight control with a 1g centrifugal device (SC), and ground control (GC) in three space experiments with the periods of 4, 8 and 16.

An Extended Hydro-Mechanical Coupling Model Based on Smoothed Particle Hydrodynamics for Simulating Crack Propagation in Rocks under Hydraulic and Compressive Loads.

A seepage model based on smoothed particle hydrodynamics (SPH) was developed for the seepage simulation of pore water in porous rock mass media. Then, the effectiveness of the seepage model was proved by a two-dimensional seepage benchmark example. Under the framework of SPH based on the total Lagrangian formula, an extended hydro-mechanical coupling model (EHM-TLF-SPH) was proposed to simulate the crack propagation and coalescence process of rock samples with prefabricated flaws under hydraulic and compressive loads.

Sudden extramedullary and extranodal Philadelphia-positive anaplastic large-cell lymphoma transformation during imatinib treatment for CML: A case report.

Background: Chronic myeloid leukemia (CML) is a malignant hematologic malignancy that can progress to blast phase with a myeloid or lymphoid phenotype. Some patients with CML can also progress to blast crisis phase; however, the transformation of CML into Philadelphia-positive lymphoma is extremely rare.

Case Summary: We present a patient with CML who experienced a sudden transformation to anaplastic large-cell lymphoma (ALCL) after 7 mo of treatment with imatinib, during which she had achieved partial cytogenetic response as well as early molecular response.

Study on connectivity of buried pipeline network considering nodes reliability under seismic action.

Currently, the connectivity calculation of complex pipeline networks is mostly simplified or ignores the influence of nodes such as elbows and tees on the connectivity reliability of the entire network. Historical earthquake damage shows that the seismic performance of municipal buried pipelines depends on the ability of nodes and interfaces to resist deformation. The influence of node reliability on network connectivity under reciprocal loading is a key issue to be addressed.

Effects of different substrates on the adsorption behavior of supported-adsorbents: A case study of MoS for Ag adsorption.

Supported-adsorbents growing on the substrate in situ are equipped with the advantages of high adsorption capacity, excellent regeneration performance, and adaptability to complex wastewater. However, the effects of substrate on the adsorption properties of supported-adsorbent are rarely considered, which will hinder its development and scale-up applications. In this study, the influences of different substrates (Ti, Mo, W, CC) on the Ag adsorption behavior of supported-MoS adsorbents were investigated.

Spatiotemporal distribution, partitioning behavior and flux of per- and polyfluoroalkyl substances in surface water and sediment from Poyang Lake, China.

Thirty-five legacy and emerging per- and polyfluoroalkyl substances (PFAS) were analyzed in surface water and sediments collected from Poyang Lake, the largest freshwater lake in China. The ƩPFAS concentrations ranged from 23 to 1000 ng/L in water dissolved phase, 1.3-9.

A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann's Thrombasthenia.

The objective of this study was to elucidate the molecular characteristics of a Chinese family with Glanzmann's thrombasthenia (GT). The proband was diagnosed with GT based on clinical manifestations, platelet aggregation, and the expression of CD41 and CD61 in platelets. Whole-exome and Sanger sequencing were used to detect genetic defects related to GT in the proband and the family of the pedigree.

Blastic Plasmacytoid Dendritic Cell Neoplasm: Progress in Cell Origin, Molecular Biology, Diagnostic Criteria and Therapeutic Approaches.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy characterized by recurrent skin nodules, an aggressive clinical course with rapid involvement of hematological organs, and a poor prognosis with poor overall survival. BPDCN is derived from plasmacytoid dendritic cells (pDCs) and its pathogenesis is unclear. The tumor cells show aberrant expression of CD4, CD56, interleukin-3 receptor alpha chain (CD123), blood dendritic cell antigen 2 (BDCA 2/CD303), blood dendritic cell antigen 4 (BDCA4) and transcription factor (E protein) E2-2 (TCF4).

Analysis on the application value of goal-directed fluid therapy in patients undergoing laparoscopy-assisted radical gastrectomy with fast-track anesthesia.

Objective: To explore the application value of goal-directed fluid therapy (GDFT) in patients undergoing laparoscopy-assisted radical gastrectomy with fast-track anesthesia.

Methods: From December 2016 to December 2019, 74 patients who underwent laparoscopy-assisted radical gastrectomy under the concept of enhanced recovery after surgery (ERAS) in gastrointestinal Surgery department of Tongling People's Hospital were selected as research participants. They were divided into two groups: the routine group (patients were treated with conventional fluids) (n=37) and the GDFT group (patients were treated with GDFT) (n=37).

Response analysis of the nodes of pipe networks under seismic load.

Transient ground displacement (TGD) that is caused by earthquakes can damage underground pipes. This damage is especially critical for the joints, elbows and tees of the pipes which play an important role in the operation of a pipe network. In this study, a scale pipe network with both elbows and tees, as well as some components of the pipe network with only tees or elbows, has been investigated.

Enhancing nitrate removal from wastewater by integrating heterotrophic and autotrophic denitrification coupled manganese oxidation process (IHAD-MnO): Internal carbon utilization performance.

Due to cause the deterioration of water quality and can produce toxic nitrite, the nitrate constituted of great threatens to human health and eco-systematic safety. Among most well-known biotechnology to remove nitrate, the integrated heterotrophic and autotrophic denitrification (IHAD) process is promising, especially for the organic-limited polluted water. In this work, the IHAD coupled manganese oxidation (IHAD-MnO) process was developed by using Pseudomonas sp.

Mechanical Properties of Chopped Basalt Fiber-Reinforced Lightweight Aggregate Concrete and Chopped Polyacrylonitrile Fiber Reinforced Lightweight Aggregate Concrete.

In this study, an experimental investigation was conducted on the mechanical properties of lightweight aggregate concrete (LWAC) with different chopped fibers, including basalt fiber (BF) and polyacrylonitrile fiber (PANF). The LWAC performance was studied in regard to compressive strength, splitting tensile strength and shear strength at age of 28 days. In addition, the oven-dried density and water absorption were measured as well to confirm whether the specimens match the requirement of standard.

Ibrutinib in CLL/SLL: From bench to bedside (Review).

B-cell receptor (BCR) signaling is important for the development and maturation of normal B-cells and plays a key role in B-cell malignancies. Bruton's tyrosine kinase (BTK), a crucial terminal kinase enzyme in BCR signaling, has emerged as an attractive target and has been successfully applied in the treatment of hematological malignancies. Ibrutinib, a BTK inhibitor, has demonstrated marked efficacy and tolerability in treatment-naïve, relapsed/refractory chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and mantle cell lymphoma (MCL).

The implication of lncRNA expression pattern and potential function of lncRNA RP4-576H24.2 in acute myeloid leukemia.

Background: Recent studies have revealed that long noncoding RNAs (lncRNAs) may hold crucial triggers of the pathogenesis of hematological malignancies, while the studies evaluating the expression pattern of lncRNA in acute myeloid leukemia (AML) are few. Thus, this study aimed to investigate the implication of lncRNA expression pattern in AML development and progression.

Methods: Bone marrow samples from four AML patients and four controls were subjected to lncRNA sequencing.

Organic matter and ammonia removal by a novel integrated process of constructed wetland and microbial fuel cells.

A novel approach, combining a microbial fuel cell (MFC) with an integrated vertical flow constructed wetland (IVCW), was developed, and its ability to simultaneously produce electrical energy while treating swine wastewater was verified. The system combined the singular water flow path of a traditional vertical flow constructed wetland (upflow and downflow)-microbial fuel cell (CW-MFC), which demonstrates better characteristics in the aerobic, anoxic, and anaerobic regions. It not only enhanced the anti-pollution load ability and the organic compound removal effect, but also improved the gradient difference in the redox potential of the system.

[Combined Effect of Bortezomib and Homoharringtonine on K562 Cells and their Mechanisms].

Objective: To explore the effects of BTZ plus HHT on proliferation and apoptosis of K562 cells, and to clarify the relationship between the mechanism inderlying the effect of BTZ plus HHT on K562 cells and BCL-2, BAX, MCL-1 proteins.

Methods: The K562 cells were divided into 4 groups by different treatment: BTZ(20 nmol/L), HHT(40 ng/ml), BTZ(20 nmol/L)+HHT(40 ng/ml) and control. The proliferation inhibition rates of K562 cells in each group were detected by using MTT, and the early apoptosis rates of K562 cells in each group were assayed by using flow cytometry with Annexin V-FITC/PI staining.