Publications by authors named "Aihua Wei"

Aim: To present three cases of filler-induced alopecia (FIA) and summarize the current knowledge of its clinical features, mechanisms and treatments.

Methods: In the first two cases, two females developed well-defined triangular patches of hair loss after hyaluronic acid (HA) injections, and received corticosteriod injections with topical 5% minoxidil. The third case described another female who experienced alopecia areata-like hair loss after autologous fat grafting, and received combined therapies including corticosteriod, 5% minoxidil and microneedling.

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  • - Oculocutaneous albinism type 2 (OCA-2) is linked to changes in the OCA2 gene, and this study aims to better classify uncertain gene variants using a method called multiplex assays of variant effect (MAVEs).
  • - By analyzing variants from publicly available data, the research found that pathogenic variants behaved abnormally while benign ones worked normally, supporting a structured re-classification process for uncertain variants.
  • - Out of 38 patients, the analysis provided a clearer diagnosis for 7 individuals, demonstrating the effectiveness of MAVEs for improving genetic testing and offering a valuable resource for future research and public clinical databases.
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Background: Ferroptosis of keratinocytes is closely associated with amplification of skin inflammation in psoriasis. This study focuses on unlocking the role of caffeic acid (CA), a polyphenol compound, in keratinocyte ferroptosis and understanding the underlying mechanistic basis.

Methods: The interaction between early growth response protein 1 (EGR1) and chac glutathione specific γ‑glutamylcyclotransferase 1 (CHAC1) was predicted by bioinformatics and validated via chromatin immunoprecipitation and dual-luciferase reported assays.

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  • Candidal granuloma is a rare deep skin infection caused by the fungus Candida albicans, with this case presenting a 69-year-old woman who had a painful skin lesion on her hand for 3 years.
  • Examination showed a large, reddish plaque with crusts, and biopsies confirmed the presence of yeast cells and hyphae, ultimately identifying Candida parapsilosis as the pathogen.
  • The patient was successfully treated with itraconazole and terbinafine, leading to complete resolution of symptoms, emphasizing the need to consider fungal infections in chronic skin lesions, especially in those with weakened immune systems.
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Albinism is a group of inherited disorders mainly affecting skin, hair and eyes. Here we identify a de novo point mutation, p.R210C, in the TPCN2 gene which encodes Two Pore Channel 2 (TPC2) from a patient with albinism.

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To explore the information needs and experiences of patients who underwent Da Vinci robotic surgery and to establish a reference for providing information support to these patients. Semi-structured interviews were conducted with 11 patients who underwent robotic surgery. Thematic analysis was subsequently executed on the data obtained from the interviews to identify the themes.

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Melanophilin (MLPH) functions as a linker between RAB27A and myosin Va (MYO5A) in regulating skin pigmentation during the melanosome transport process. The MYO5A-MLPH-RAB27A ternary protein complex is required for anchoring mature melanosomes in the peripheral actin filaments of melanocytes for subsequent transfer to adjacent keratinocytes. Griscelli syndrome type 3 (GS3) is caused by mutations in the gene.

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  • - The study aimed to analyze the genotypic and phenotypic aspects of foveal hypoplasia (FH) in patients with specific genetic conditions, including albinism and PAX6 mutations, among others.
  • - In a group of 907 participants, albinism was identified as the most common cause of typical FH, and the research showed notable differences in visual acuity and FH grading based on the underlying genetic diagnosis.
  • - The findings indicated that different types of albinism exhibited varying severities of FH and visual problems, with ocular albinism and Hermansky-Pudlak syndrome showing worse outcomes compared to oculocutaneous albinism.
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Hermansky-Pudlak syndrome (HPS) is characterized by defects of multiple tissue-specific lysosome-related organelles (LROs), typically manifesting with oculocutaneous albinism or ocular albinism, bleeding tendency, and in some cases with pulmonary fibrosis, inflammatory bowel disease or immunodeficiency, neuropsychological disorders. Eleven HPS subtypes in humans and at least 15 subtypes in mice have been molecularly identified. Current understanding of the underlying mechanisms of HPS is focusing on the defective biogenesis of LROs.

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Seawater intrusion poses a serious threat to coastal areas around the world. The purpose of this study was to develop a comprehensive approach to assess the vulnerability of saltwater intrusion. The powerful decision-making technique GALDIT was firstly selected, and its inherent weights are the origin of the subjective method.

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Hermansky-Pudlak syndrome 9 (HPS-9) is a recessive disorder caused by BLOC1S6 gene. There are only four variants identified from four HPS-9 patients so far. Here, we reported the first HPS-9 patient in a Chinese population.

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  • Lysosome-related organelles (LROs) play a crucial role in maintaining ion homeostasis, particularly calcium, which is essential for their formation and secretion.
  • In Hermansky-Pudlak syndrome (HPS), a genetic condition affecting LROs, researchers identified a new zinc transporter, TMEM163, that is reduced in HPS patients and deficient mice, linking it to platelet dense granule (DG) defects.
  • The study highlights that BLOC-1 is necessary for the proper localization of TMEM163, suggesting that disruptions in TMEM163 affect zinc levels and contribute to the complications associated with HPS, particularly in platelets.
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HPS1, a BLOC-3 subunit that acts as a guanine nucleotide exchange factor of Rab32/38, may play a role in the removal of VAMP7 during the maturation of large dense core vesicles of Paneth cells. Loss of HPS1 impairs lysozyme secretion and alters the composition of intestinal microbiota, which may explain the susceptibility of HPS-associated inflammatory bowel disease. Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, bleeding tendency, and other chronic organ lesions due to defects in tissue-specific lysosome-related organelles (LROs).

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Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism or ocular albinism, bleeding diathesis, and other symptoms such as colitis and pulmonary fibrosis. Eleven causative genes have been identified for HPS-1-HPS-11 subtypes in humans. We have identified 16 newly reported patients including the first HPS-2 case in the Chinese population.

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A series of near-infrared and photostable Si-oxazine fluorescent dyes was synthesized using a simple three-step procedure, and one of their reduced products, i.e. hydro-Si-oxazine HSiO3, has been utilized to sensitively detect hypochlorous acid and peroxynitrite generation by phagocytes in inflamed and pulmonary fibrosis diseased mice with emission wavelength beyond 750 nm.

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Albinism is an autosomal or X-linked recessive Mendelian trait in man, which mainly manifests as hypopigmentation and related lesions of eye, skin and hair. At least 18 genes have so far been identified as causative genes for albinism. The mutational spectrum is population-specific.

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  • Oculocutaneous albinism (OCA) is a rare genetic disorder causing reduced pigmentation in skin, hair, and eyes, with OCA type 6 linked to mutations in the SLC24A5 gene.
  • A study identified two new harmful mutations in the SLC24A5 gene from two unrelated Chinese patients, adding to the knowledge of OCA6 in this population.
  • The mutations found in Chinese patients differ significantly from those in other populations, which can help with genetic diagnosis and counseling for OCA6 in China.
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  • Oculocutaneous albinism (OCA) is a genetic disorder characterized by reduced pigmentation due to mutations affecting pigment production and melanosome function.
  • Researchers identified the NCKX5 gene as a key player in OCA type 6 (OCA6), but its exact role was unclear until they discovered NCKX5 is located in mitochondria instead of melanosomes.
  • The study revealed that impaired mitochondrial function affects calcium transfer to melanosomes, leading to reduced pigment production, which may also relate to hair graying in older adults and skin changes in vitiligo.
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  • Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder linked to albinism and bleeding issues, caused by mutations in specific genes.
  • Researchers used next-generation sequencing to analyze hypopigmentation genes in patients and discovered several new mutations across different HPS subtypes, including the first reported HPS-4 case in the Chinese population.
  • The study reveals that most of the identified mutations were previously unknown and highlights the unique genetic variations related to HPS in the Chinese population.
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Epimedii Folium is a commonly used traditional Chinese drug, and now still depends on the wild resource. In recent years, with the surge in consumption, the resources are declining, the use of market varieties are constantly changing. In this paper, Production and sales situation of the five species contained in pharmacopoeia(Epimedium brevicornu, E.

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Synopsis of recent research by authors named "Aihua Wei"

  • - Aihua Wei's recent research primarily focuses on skin-related conditions, particularly the role of cellular mechanisms in diseases such as psoriasis, albinism, and Hermansky-Pudlak syndrome, highlighting the relationship between cellular apoptosis and inflammation.
  • - Key findings include the impact of caffeic acid in reducing ferroptosis in keratinocytes and unearthing the genetic underpinnings of albinism and Griscelli syndrome through novel mutations and pathogenic mechanisms.
  • - Additionally, Wei's work extends to patient care insights, such as elucidating the information needs of individuals undergoing robotic surgery, thereby bridging clinical research with patient-centered outcomes.

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