Cytogenet Genome Res
October 2024
Objective: To compare the complementation of magnetic resonance imaging (MRI) to prenatal ultrasound (US) with prenatal US alone in detecting orofacial clefts in high-risk fetuses.
Design: A network meta-analysis.
Setting: Literature retrieval in PubMed, EMBASE, and Cochrane library, and meta-analysis based on STATA 14.
Background: Newborn screening (NBS) aims to detect congenital anomalies, and next-generation sequencing (NGS) has shown promise in this aspect. However, the NBS strategy for monogenic inherited diseases in China remains insufficient.
Methods: We developed a NeoEXOME panel comprising 601 genes that are relevant to the Chinese population found through extensive research on available databases.
Following the publication of this paper, it was drawn to the Editor's attention by a concerned reader that the colony formation assay data shown in Figs. 2, 4 and 8 were strikingly similar to data that had already appeared in another article written by different authors at different research institutes [Chen W, Wang J, Liu S, Wang S, Cheng Y, Zhou W, Duan C and Zhang C: MicroRNA‑361‑3p suppresses tumor cell proliferation and metastasis by directly targeting SH2B1 in NSCLC. J Exp Clin Cancer Res 35: 76, 732516, 2016].
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2022
Phosphatidylinositol-4-kinase alpha (PI4KIIIα), encoded by the gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. mutations can cause autosomal recessive diseases involving neurological, intestinal, and immunological conditions (OMIM:619621, 616531, 619708). We detected sepsis, severe diarrhea, and decreased immunoglobulin levels in one neonate.
View Article and Find Full Text PDFFront Cardiovasc Med
October 2022
Ferrous glycinate (Fe-Gly) has been increasingly used as iron fortification in the diets of weaned piglets and broilers, but the effect of Fe-Gly on intestinal barrier function in meat ducks has not been well defined. This study therefore investigated the effect of Fe-Gly on apparent nutrient utilization, hematological indices, intestinal morphological parameters, intestinal barrier function and microbial composition in meat ducks. A total of 672 one-day-old Cherry Valley ducks were randomly divided into 6 treatments (8 replicates for each treatment and 14 ducks for each replicate) and fed diets with 0 (control), 30, 60, 90 and 120 mg/kg Fe-Gly or 120 mg/kg FeSO for 35 d.
View Article and Find Full Text PDFRationale: X-linked chronic granulomatous disease (X-CGD) is an X-linked recessive disorder of the Nicotinamide adenine dinucleotide phosphate oxidase system that can cause primary immunodeficiency. Mutations in the CYBB gene located in Xp21.1 were accounting for X-CGD disease.
View Article and Find Full Text PDFBackground: Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disease of the central nervous system, which mainly involves the optic nerve and spinal cord. Frequent relapse can accumulate the degree of disability. At present, the main treatment options are immunosuppressants and blood purification.
View Article and Find Full Text PDFAs the standard of life has increased with the advancement of the time, there has been an increasing stress on healthcare with the aging diet, and pressure sores occur in elderly hospitalized subjects. Of course, the emergence of related medical devices, especially auxiliary foam dressings, is constantly improving. Pressure ulcers are extremely harmful to the elderly.
View Article and Find Full Text PDFPrader-Willi syndrome (PWS) is a complex genetic syndrome caused by the loss of function of genes in 15q11-q13 that are subject to regulation by genomic imprinting and expressed from the paternal allele only. The main clinical features of PWS patients are hypotonia during the neonatal and infantile stages, accompanied by delayed neuropsychomotor development, hyperphagia, obesity, hypogonadism, short stature, small hands and feet, mental disabilities, and behavioral problems. However, PWS has a clinical overlap with other disorders, especially those with other gene variations or chromosomal imbalances but sharing part of the similar clinical manifestations with PWS, which are sometimes referred to as Prader-Willi syndrome-like (PWS-like) disorders.
View Article and Find Full Text PDFBackground: The common complications of radical hysterectomy and pelvic lymphadenectomy usually include wound infection, hemorrhage or hematomas, lymphocele, uretheral injury, ileus and incisional hernias. However, internal hernia secondary to the orifice associated with the uncovered vessels after pelvic lymphadenectomy is very rare.
Case Presentation: We report a case of internal hernia with intestinal perforation beneath the superior vesical artery that occurred one month after laparoscopic pelvic lymphadenectomy for cervical cancer.
Background: The present study aimed to investigated the expression pattern of long noncoding RNA LINC00858 (LINC00858) in gastric cancer (GC) patients and its feasibility as a new prognostic biomarker.
Methods: We examined LINC00858 expression in GC tissues and matched normal tissues from 189 patients using a quantitative reverse transcription-polymerase chain reaction. The correlations of LINC00858 levels in GC patients with clinicopathologic features were analyzed using a chi-squared test.
Background: Colorectal cancer (CRC) is the most common malignant disease worldwide and thus new therapeutic approaches are needed. 5-Fluorouracil (5-FU) remains the most widely used agent to treat colorectal cancer (CRC). However, its clinical efficacy is currently limited by the development of drug resistance.
View Article and Find Full Text PDFPolymorphisms in the tumor necrosis factor α () gene are emerging as key determinants of gastric diseases. The TNF-α-238G/A single-nucleotide polymorphism (SNP) is the most extensively studied. However, this association is inconsistent amongst different populations.
View Article and Find Full Text PDFA series of novel pyridine-substituted piperidine derivatives were discovered as low nanomolar Ls-AChBP ligands with α7 nAChR partial agonism or antagonism activities. A high-resolution antagonist-bound Ls-AChBP complex was successfully resolved with a classic Loop C opening phenomenon and unique sulfur-π interactions which deviated from our previous docking mode to a large extent. With the knowledge of the co-complex, 27 novel piperidine derivatives were designed and synthesized.
View Article and Find Full Text PDFA novel and regioselective Ni(I) catalyzed C-C and C-N cascade coupling reactions has been developed. The cascade furnishes atom-economic access to 40 3-aryl-1-aminoisoquinolines. The regioselectivity of C(sp)-cyano group over C(sp)-cyano group was revealed and supported by mechanism studies as well as the preliminary density functional theory (DFT) calculations.
View Article and Find Full Text PDFGastric cancer (GC) is one of the most common types of cancer in humans and the second leading cause of cancer-associated mortality worldwide. Identifying novel risk factors will facilitate the development of therapeutic strategies to prevent and treat GC. Increased expression of the Src homology 2 B adaptor protein 1 (SH2B1) may stimulate the malignant progression of lung cancer, esophageal cancer and neuroblastoma.
View Article and Find Full Text PDFInhibition of LRRK2 kinase activity with small molecules has emerged as a potential novel therapeutic treatment for Parkinson's disease. Herein we disclose the discovery of a 4-ethoxy-7H-pyrrolo[2,3-d]pyrimidin-2-amine series as potent LRRK2 inhibitors identified through a kinase-focused set screening. Optimization of the physicochemical properties and kinase selectivity led to the discovery of compound 7, which exhibited potent in vitro inhibition of LRRK2 kinase activity, good physicochemical properties and kinase selectivity across the kinome.
View Article and Find Full Text PDFA convenient microwave-assisted protocol for the synthesis of hydroxyl-containing isoquinolines from a metal-free radical cyclization reaction of vinyl isonitriles with alcohols was developed with moderate-to-excellent yields. Vinyl isonitriles are coupled with alkyl radicals through direct catalytic functionalization of the α sp C-H bond of alcohols. The methodology demonstrates a broad substrate scope, shows excellent functional group tolerance, is highly atom-economical and highly efficient, thus enabling the preparation of diverse potentially valuable hydroxyl-containing isoquinolines.
View Article and Find Full Text PDFA novel and efficient protocol for the synthesis of various 2,4-disubstituted, 1,2,4-trisubstituted and 1,2,4,5-tetra-substituted imidazoles via cascade palladium catalyzed C-C coupling followed by intramolecular C-N bond formation was developed. Readily accessible boronic acids and N-substituted-2-aminoacetonitriles were firstly reported as starting materials to construct di-, tri-, and tetra-substituted imidazoles in good to excellent yield.
View Article and Find Full Text PDFGastric cancer (GC) is one of the most common human cancers and the second leading cause of cancer-related mortality worldwide. The major cause of death is metastasis. Elucidating molecular mechanism of metastasis in gastric cancer will help us to further understand the pathogenesis and progression of the disease, and offer new targets for effective therapies.
View Article and Find Full Text PDFCancer initiating cells (CIC) are defined as the unique subpopulation in the tumors that possess the ability to initiate tumor growth and sustain self-renewal as well as metastatic potential. In this study, we found that EHF overexpression promoted formation of CIC traits and silencing it inhibited the traits in gastric cancer NCI‑N87 cells. Overexpressing EHF downregulated the antitumor effect of 5-fluorouracil (5-FU) in NCI‑N87 cells.
View Article and Find Full Text PDFPurpose: Response surface methodology (RSM) using the central composite rotatable design (CCRD) model was used to optimize the formulation of paclitaxel (PTX)-cepharanthine (CEP) nanoparticles for gastric cancer.
Methods: Nanoparticles were prepared using nanoprecipitation technique and optimized using central composite rotatable design response surface methodology (CCRD-RSM). Further the optimized nanoparticles were characterised for particle size (PS), zeta potential, entrapment efficiency (EE), drug loading efficiency (DL), anticancer potential against MKN45 (human gastric cancer) cells, in vivo tumor inhibition and survival analysis.