Browsing by Author "Zhang, Haixia"

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    A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita.
    (2015-07) Luo, Shuanghong; Luo, Qiuhong; Zhang, Haixia; Wan, Chaomin
    Pachyonychia congenita (PC) is a rare genetic disorder which is inherited in an autosomal dominant pattern. We report a sporadic novel H1 mutation in the KRT6A gene (c. 428G>A/p. Ser143Asn) in a Chinese infant patient. The mutation is concurrent with a single-nucleotide polymorphism and resulted in a serine for asparagine substitution in H1 subdomain of KRT6A chain next to the rod domain. The infant showed the classic symptoms of pachyonychia congenita. Conclusion: The heterozygous missense mutation c. 428G > A/p.Ser143Asn in KRT6A exon 1 may cause severe disease
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    Value of miR-15b-5p combined with ultrasound imaging in early diagnosis of renal cell carcinoma
    (CSIR-NIScPR, 2023-02) Zhang, Haixia; Zeng, Lingfeng
    Renal cancer is one of the most common malignancies, and its incidence is increasing year by year, second only to prostate and bladder cancers. Therefore, early screening is of great significance to prevent and improve the prognosis of patients with renal cancer. Therefore, this study intends to observe the early diagnostic value of miR-15b-5p combined with Colour ultrasound imaging in renal cell carcinoma. In this study, the clinical samples of 76 patients with renal cell carcinoma diagnosed by pathology in our hospital from April 2020 to June 2022 were retrospectively collected as the research objects. Another 100 healthy people who underwent general physical examination in our hospital during the same period were selected to detect the expression level of miR-15b-5 in serum by RT-PCR together with the 76 experimental samples. Colour ultrasound imaging was used to detect the blood flow distribution around and inside the kidney of the patients with renal cancer, and the parameters were measured and compared with the gold standard for statistical analysis. The expression level of miR-15b-5 in renal cell carcinoma group was significantly higher than that in control group. Most of them showed renal hamartoma (40.79%). Benign renal tumors were mainly characterized by type I and II blood flow, while malignant renal tumors were characterized by type III and IV blood flow. Compared with the pathological gold standard, the diagnostic accuracy of ultrasound imaging was founded to be about 81.25%. Further ROC analysis showed that ultrasound imaging combined with miR-15b-5 detection could effectively improve the early screening value of renal cell carcinoma. We observed that miR-15b-5 has a specific expression level in the serum of patients with renal cell carcinoma, and its combination with ultrasound imaging can significantly improve the early detection of renal cell carcinoma. This approach is envisaged to be highly useful for, early diagnosis, intervention and management of patients with renal cell carcinoma