Publications by authors named "HaiLi Hu"

Article Synopsis
  • Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a genetic disorder affecting fatty acid metabolism, identified in newborns through screening.
  • A study screened over 782,000 newborns and confirmed 21 cases of SCADD, leading to an incidence rate of 1 in 37,282.
  • Researchers identified multiple genetic mutations in these cases, with two common mutations (c.1031A>G and c.1130C>T) being frequent; however, SCADD is often benign, making early diagnosis less critical.
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  • Isolated methylmalonic acidemia, often caused by mutations in the methylmalonyl-CoA mutase gene, can be detected through newborn screening (NBS) or clinically after onset, and this study compares outcomes between these methods of diagnosis.
  • The analysis included 168 patients diagnosed via NBS and 210 diagnosed clinically, evaluating factors like age at diagnosis, treatment response, and long-term outcomes.
  • Results indicated that NBS-detected patients had better prognoses, including earlier diagnosis, improved treatment response, and reduced disease onset, suggesting that NBS improves survival rates for infants with this condition.
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Because of the challenges posed by anatomical uncertainties and the low resolution of plain computed tomography (CT) scans, implementing adaptive radiotherapy (ART) for small hepatocellular carcinoma (sHCC) using artificial intelligence (AI) faces obstacles in tumor identification-alignment and automatic segmentation. The current study aims to improve sHCC imaging for ART using a gold nanoparticle (Au NP)-based CT contrast agent to enhance AI-driven automated image processing. The synthesized charged Au NPs demonstrated notable aggregation, low cytotoxicity, and minimal organ toxicity.

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Article Synopsis
  • A study was conducted to improve the initial setup process of surface-guided radiotherapy (SGRT) for breast cancer patients using deep inspiration breath-hold (DIBH) techniques, focusing on three different positioning methods.
  • A total of 124 patients were divided into three groups: one using skin markers with SGRT, another using SGRT with optical feedback and auto-positioning, and the last using skin markers with SGRT auto-positioning, with all methods evaluated for accuracy and efficiency.
  • Results showed that the auto-positioning method took the least amount of time for setup and provided good accuracy, making it the recommended approach for daily breast DIBH radiotherapy.
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Protein corona has long been a source of concern, as it might impair the targeting efficacy of targeted drug delivery systems. However, engineered up-regulating the adsorption of certain functional serum proteins could provide nanoparticles with specific targeting drug delivery capacity. Herein, apolipoprotein A-I absorption increased nanoparticles (SPC-PLGA NPs), composed with the Food and Drug Administration approved intravenously injectable soybean phosphatidylcholine (SPC) and poly (DL-lactide-co-glycolide) (PLGA), were fabricated for enhanced glioma targeting.

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Article Synopsis
  • - The study focused on understanding the effects of the MMACHC c.482G > A mutation linked to CblC disease in 195 Chinese patients, analyzing their clinical features and outcomes over a median follow-up of nearly 4 years.
  • - It was found that 64.1% of patients were identified through newborn screening, with a significant portion remaining asymptomatic, while symptomatic cases showed a later onset of symptoms such as developmental delays and cognitive issues.
  • - In comparison, 159 symptomatic patients without the c.482G > A mutation exhibited different clinical manifestations, highlighting variations in disease presentation depending on the specific genetic mutation.
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As known, the benefits of photothermal therapy (PTT) are greatly limited by the heat tolerance of cancer cells resulting from overexpressed heat shock proteins (HSPs). Then HSPs further trigger the formation of stress granules (SGs) that regulate protein expression and cell viability under various stress conditions. Inhibition of SG formation can sensitize tumor cells to PTT.

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Background: Methylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase ( type) or its cofactor, is the most common inherited organic acid metabolic disease in China. This study aimed to investigate the phenotype and genotype of -type MMA in Chinese patients.

Methods: We recruited 365 patients with -type MMA; investigated their disease onset, newborn screening (NBS) status, biochemical metabolite levels, gene variations and prognosis; and explored the relationship between phenotype and genotype.

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Background: We retrospectively studied the dosimetry and setup accuracy of deep inspiration breath-hold (DIBH) radiotherapy in right-sided breast cancer patients with regional nodal irradiation (RNI) who had completed treatment based on surface-guided radiotherapy (SGRT) technology by Sentinel/Catalyst system, aiming to clarify the clinical application value and related issues.

Methods: Dosimetric indicators of four organs at risk (OARs), namely the heart, right coronary artery (RCA), right lung, and liver, were compared on the premise that the planning target volume met dose-volume prescription requirements. Meanwhile, the patients were divided into the edge of the xiphoid process (EXP), sternum middle (SM), and left breast wall (LBW) groups according to different positions of respiratory gating primary points.

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Tumor vaccine is a promising cancer treatment modality, however, the convenient antigens loading in vivo and efficient delivery of vaccines to lymph nodes (LNs) still remain a formidable challenge. Herein, an in situ nanovaccine strategy targeting LNs to induce powerful antitumor immune responses by converting the primary tumor into whole-cell antigens and then delivering these antigens and nanoadjuvants simultaneously to LNs is proposed. The in situ nanovaccine is based on a hydrogel system, which loaded with doxorubicin (DOX) and nanoadjuvant CpG-P-ss-M.

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As an endogenous gasotransmitter, CO has achieved tremendous advances in cancer treatment through selectively killing cancer cells. However, the application of CO in tumor immunotherapy has not been reported and the tumor targeting delivery is still a tremendous challenge. Herein, thermosensitive boronic acid group-containing CO prodrug was synthesized and fabricated with tannic acid (TA) and iron (Fe) to form metal-phenolic networks, and then loaded with near-infrared (NIR) photothermal agent IR820 to form FeCO-IR820@FeTA for combinational therapy of CO and photothermal therapy.

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We present PORT, a software platform for local data extraction and analysis of digital trace data. While digital trace data hold huge potential for social-scientific discovery, their most useful parts have been unattainable for scientists because of privacy concerns and prohibitive access to application programming interfaces. Recently, a workflow was introduced allowing citizens to donate their digital traces to scientists.

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The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present study aimed to investigate the long-term clinical benefits of screening individual. A national, retrospective multi-center study of infants with confirmed cblC defect identified by NBS between 2004 and 2020 was conducted.

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Background: Diagnosis of tuberculosis (TB) is still difficult. The development of rapid and sensitive laboratory tools for the diagnosis of tuberculosis is a priority. This study aimed to develop an indirect enzyme-linked immunoassay (ELISA) assay for detection of TB antibody and explore its diagnostic value in patients with pulmonary tuberculosis (PTB) via a multi-center clinical evaluation.

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Background: To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA.

Methods: This was a retrospective study of patients diagnosed with mut-type MMA. All patients with mut-type MMA were tested for responsiveness to vitamin B12.

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Investigations have found maternal adverse childhood experiences (ACEs) cause an intergenerational danger to their children's health. However, no study has investigated the effects of maternal ACEs on behavioral problems of preschool children in China and gender differences on these effects. This paper aims to investigate the role of maternal ACEs on behavioral problems of preschool children in China and explore gender differences as related to these behavioral problems.

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Background: Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disorder caused by biallelic mutation of ACAT1 that affects both isoleucine catabolism and ketolysis. There is little information available regarding the incidence, newborn screening (NBS), and mutational spectrum of BKTD in China.

Results: We collected NBS, biochemical, clinical, and ACAT1 mutation data from 18 provinces or municipalities in China between January 2009 and May 2020, and systematically assessed all available published data from Chinese BKTD patients.

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Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.

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Background: In this study we compared intraoperative bleeding and regional cerebral oxygenation in patients with different degrees of the reverse Trendelenburg position (RTP) during endoscopic sinus surgery (ESS).

Methods: In total, 120 patients with chronic rhinosinusitis treated by ESS were randomly assigned to the following 4 groups: a horizontal position (HP) group, and 5°, 10°, and 15° RTP (5-RTP, 10-RTP, and 15-RTP, respectively) groups. The primary outcome was the Boezaart grading scale (BS).

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Radiation enteritis is one of the most common side effects of ionizing radiation in patients with pelvic cancers. Increasing amounts of evidence indicate that pro-inflammatory responses significantly contribute to the development of radiation enteritis. In this study, we investigated the association between T regulatory (Treg) cells and the risk of developing radiation enteritis in cervical cancer patients.

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Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder and the leading genetic cause of infant mortality. Early detection of SMA through newborn screening (NBS) is essential to selecting pre-symptomatic treatment and ensuring optimal outcome, as well as, prompting the urgent need for effective screening methods. This study aimed to determine the feasibility of applying an Agena iPLEX SMA assay in NBS for SMA in China.

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Introduction: The present study was carried out to explore the functionality of lncRNA NCK1-AS1 in nasopharyngeal carcinoma (NPC).

Methods: Levels of NCK1-AS1 were measured by performing qPCR and were compared by ANOVA (one-way) performed in combination with Tukey's test. Expression levels of miR-135a in plasma of NPC patients were measured by performing qPCR.

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To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency (NICCD), into the current newborn screening (NBS) program. We designed a high-throughput iPLEX genotyping assay to detect 28 SLC25A13 mutations in the Chinese population. From March 2018 to June 2018, 237 630 newborns were screened by tandem mass spectrometry at six hospitals.

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Allergic rhinitis (AR) is a chronic upper respiratory disorder characterized by inflammation of the nasal mucosa. Prunetin is an O-methylated isoflavone, which has been found to possess anti-inflammatory activity. The aim of the current study was to evaluate the effect of prunetin on inflammatory cytokine and mucus production and its underlying mechanism in nasal epithelial cells.

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