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Biomedical subjects

Yanli Zhang

Publications and source records attributed to Yanli Zhang.

8 recordsLinked to original sources
PubMed2026

Dental phenotypes associated with novel PHEX variants in X-linked hypophosphatemia.

OBJECTIVES: X-linked hypophosphatemia (XLH) is a genetic disorder related to bone, mainly due to the mutations in PHEX gene. Previous studies have reported that XLH patients had various tooth phenotypes. It is unclear whether there are any rules about these abnormal tooth phenotypes, especially in those XLH cases with PHEX mutations. The objectives of this study were to find the most representative dental characteristics of XLH and the possible phenotype-genotype correlation. DESIGN: Two unrelated patients with XLH underwent clinical, radiographic, biochemical, and genetic evaluation. Whole-exome sequencing and whole-genome sequencing were used to identify pathogenic variants. The ultrastructure of extracted teeth was analyzed using a stereomicroscope, micro-CT, and scanning electron microscopy. In addition, a PubMed search (up to January 2026) identified 22 articles involving 366 patients for descriptive phenotype comparison. RESULTS: Two novel PHEX variants were identified: a novel complex structural variant (NC_000023.11, g.22035649-22041668delins) and a novel heterozygous splice-site variant (NM_000444.6, c.850-1 G>A). Radiographic examination showed enlarged pulp chambers and irregular pulp morphology. Ultrastructural analysis revealed dentin defects, including globular dentin, irregular interglobular dentin, disrupted dentinal tubules, and exposed collagen fibrils. Literature-based analysis indicated prevalent clinical manifestations (pulp necrosis, tooth loss, periodontitis) and radiographic findings (enlarged pulp chamber, and prominent pulp horn). CONCLUSION: In these two patients, novel PHEX variants were associated with a recurrent dentin-pulp phenotype. Integrated clinical, radiographic, ultrastructural, and literature evidence supports dentin defects as a central component of the dental phenotype in XLH and underscores the importance of early dental assessment.

Humans↗
PubMed2005

Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms.

In both genetic and idiopathic forms of Parkinson's disease (PD), considerable evidence supports the involvement of alpha-synuclein, electron transport chain complex I, protein aggregation, and the ubiquitin-proteasome system. To investigate alterations in the transcription of genes that comprise these pathways, we performed gene expression profiling and functional gene group analysis of three brain regions (the substantia nigra, putamen, and area 9) in postmortem tissue from matched groups of PD or control subjects (n = 15/group). Verification of selected changes was performed using RT-PCR, and visualization of selected changes in expression was accomplished using in situ hybridization (ISH). Our results provide strong support for the impairment of multiple electron transport chain complexes and the ubiquitin-proteasomal system in PD, along with a robust induction of heat shock proteins and some anti-apoptotic gene groups. Several novel gene and gene group findings were also obtained that offer new insight into the pathogenesis and potential treatment of PD.

Aged↗
PubMed2005

A crucial role of angiotensin converting enzyme 2 (ACE2) in SARS coronavirus-induced lung injury.

During several months of 2003, a newly identified illness termed severe acute respiratory syndrome (SARS) spread rapidly through the world. A new coronavirus (SARS-CoV) was identified as the SARS pathogen, which triggered severe pneumonia and acute, often lethal, lung failure. Moreover, among infected individuals influenza such as the Spanish flu and the emergence of new respiratory disease viruses have caused high lethality resulting from acute lung failure. In cell lines, angiotensin-converting enzyme 2 (ACE2) has been identified as a potential SARS-CoV receptor. The high lethality of SARS-CoV infections, its enormous economic and social impact, fears of renewed outbreaks as well as the potential misuse of such viruses as biologic weapons make it paramount to understand the pathogenesis of SARS-CoV. Here we provide the first genetic proof that ACE2 is a crucial SARS-CoV receptor in vivo. SARS-CoV infections and the Spike protein of the SARS-CoV reduce ACE2 expression. Notably, injection of SARS-CoV Spike into mice worsens acute lung failure in vivo that can be attenuated by blocking the renin-angiotensin pathway. These results provide a molecular explanation why SARS-CoV infections cause severe and often lethal lung failure and suggest a rational therapy for SARS and possibly other respiratory disease viruses.

Analysis of Variance↗
PubMed2005

Creation of a three-dimensional optical chain for controllable particle delivery.

We propose a design for producing a conveyable quasi-periodic optical chain that can stably trap and deliver multiple individual particles in three dimensions at different planes near the focus. A diffractive optical element (DOE) is designed to spatially modulate the phase of an incoming radially polarized beam. For a tighly focused beam, a three-dimensional (3D) optical chain can be formed because of the difference in the Gouy phase shift from two concentric regions of the DOE. A desired number of particles can be stably tweezed one by one with individual 3D volumes in this trapping structure. By controlling the phase modulation of the incident beam, one can manipulate the interference pattern to accelerate and transport trapped particles along the optical axis in a prescribed way.

Computer Simulation↗
PubMed2005

Retrograde gastric pacing reduces food intake and delays gastric emptying in humans: a potential therapy for obesity?

Obesity is one of the most prevalent health problems in the world with a lack of satisfactory therapies and gastric electrical stimulation has recently been proposed for the treatment of obesity. The aim of this study was to investigate the effects of retrograde gastric pacing (RGP) on food and water intake, and gastric emptying in humans. RGP with a tachygastrial frequency of 9 cycles/min was performed via a pair of submucosal gastric electrodes implanted 5 cm above the pylorus in 12 subjects. The water load test, food intake test and scintigraphic gastric emptying test were performed to assess the efficacy of RGP. RGP resulted in a 13% reduction in the consumption of water, a 16% reduction in food intake and a 15% increase in gastric retention of a solid meal. No significant symptoms were recorded with RGP using the parameters used for the water-load, food intake and scintigraphic gastric emptying tests. Acute RGP at a tachygastrial frequency results in a significant reduction of water and food intake and a delay in gastric emptying without inducing any unacceptable symptoms. It is worthy to explore its therapeutic potential for obesity.

Adult↗
PubMed2005

High-efficiency, liquid-crystal-based, controllable diffraction grating.

We propose a new reflective liquid-crystal diffraction grating design attained by combining the use of a polymer wall to reduce the detrimental effect of the fringing electric field in a high-resolution grating and a quarter-wave plate to make the device polarization independent. This design could offer significant performance advantages in a projection display system. Results of calculations are compared with experimental data.

Journal Article↗
PubMed2005

Visceral sensitivity to gastric stimulation and its correlation with alterations in gastric emptying and accommodation in humans.

BACKGROUND: The aim of this study was to investigate the visceral sensation to gastric stimulation and its correlation with the stimulation-induced alterations in gastric accommodation and gastric emptying. METHODS: The study was performed in 12 healthy human controls. Gastric stimulation was performed using bipolar electrodes attached to the mucosa of the distal stomach under endoscopy. Experiments were conducted on 3 consecutive days to investigate the effects of gastric stimulation with various parameters on visceral sensation, maximum intake of water and gastric emptying of solids. RESULTS: 1) The stimulation energy was 265.6 +/- 134.9 smA 2 for the first sensation and 2,020.0 +/- 865.1 smA2 for the maximum tolerance, and there was a large variation among the subjects; 2) Gastric stimulation with stimulation energy less than 50% of that required to induce the first sensation significantly reduced the maximum intake of water and delayed gastric emptying of solids without inducing symptoms; 3) The stimulation energy of the first sensation was significantly correlated with the stimulation-induced reduction in water intake (r=-0.80, P=0.02) and the stimulation-induced prolongation of gastric emptying (r=-0.78, P=0.003). That is, the inhibitory effects of gastric stimulation were more obvious in those subjects who were viscerally more sensitive to gastric stimulation. CONCLUSIONS: Gastric stimulation via the distal stomach reduces gastric accommodation and delays gastric emptying. These inhibitory effects are correlated with the visceral sensitivity of the individual to gastric stimulation. It is worthy to further investigate whether the outcome of the implantable gastric stimulation (IGS) therapy for obesity may be predicted from the visceral sensitivity of the patient to temporary gastric stimulation using endoscopically placed mucosal electrodes.

Adaptation, Physiological↗