AIM: To investigate the effect of scleral-fixated capsular tension ring(SFCTR)combined with phacoemulsification and intraocular lens(IOL)implantation in the treatment of traumatic lens subluxation.METHODS: A total of 14 patients(14 eyes)who underwent SFCTR combined with phacoemulsification and IOL implantation for traumatic lens subluxation from December 2018 to February 2023 were selected. Visual acuity, intraocular pressure, anterior segment photography, and ultrasound biomicroscopy(UBM)were examined during postoperative follow-up. The location of IOL and postoperative complications were recorded.RESULTS: SFCTRs and IOLs were successfully implanted in all patients. The mean postoperative follow-up was 1.92±1.36 a. At the last follow-up, the uncorrected distance visual acuity(UDVA; 0.20±0.18 LogMAR)and corrected distance visual acuity(CDVA; 0.16±0.17 LogMAR)were significantly improved compared with the UDVA(1.13±0.56 LogMAR)preoperatively(P<0.01). The intraocular pressure(17.64±3.67 mmHg)was lower than that before the operation(22.00±9.92 mmHg; P<0.05). During the follow-up, the slit-lamp examination showed that the IOL was in the middle of the pouch. UBM examination showed that the CTR and IOL were located in the pouch, and the distance between the equatorial part of the pouch and the ciliary process was equal in all directions.CONCLUSION: The SFCTR combined with phacoemulsification and IOL implantation is an efficient and minimally invasive method in the treatment of traumatic lens subluxation.

OBJECTIVE: To carry out clinical and genetic analysis for an infant manifesting perianal lesions, diarrhea and multiple intestinal perforations. METHODS: Genomic DNA of the infant was extracted and subjected to targeted capture exome sequencing. Candidate variants were verified by Sanger sequencing of his family members. RESULTS: The patient was found to harbor c.301C>T and c.188+1G>A compound heterozygous variants of the IL10RA gene, which has suggested the diagnosis of IL10RA-related very early-onset inflammatory bowel disease (VEOIBD). CONCLUSION The patient was diagnosed with IL10RA-related VEOIBD. The newly discovered c.188+1G>A variant has enriched the spectrum of IL10RA gene variations.
Genetic Testing ; Humans ; Infant ; Inflammatory Bowel Diseases/pathology* ; Mutation ; Exome Sequencing

OBJECTIVE: To analyze the clinical and genetic characteristics of a boy featuring unexplained developmental delay, malnutrition and distinct facial appearance. METHODS: Physical examination was carried out for the child. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA and trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The patient had facial dysmorphism including nasal alae aplasia, scalp defect and teeth deformities, in addition with recurrent diarrhea due to pancreatic exocrine insufficiency. DNA sequencing revealed that he has harbored compound heterozygous variants of the UBR1 gene, namely c.3167C>G (p.S1056X) and c.1911+14C>G, which were inherited from his father and mother, respectively. Database search has suggested the c.3167C>G to be a novel nonsense variant and c.1911+14C>G a known splicing variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were predicted to be pathogenic and likely pathogenic, respectively. CONCLUSION The child was diagnosed with Johanson-Blizzard syndrome due to the compound heterozygous variants of the UBR1 gene. Above finding has enriched the mutational spectrum of the UBR1 gene and provided a basis for genetic counseling for this family.
Child ; Humans ; Male ; Ectodermal Dysplasia/genetics* ; Pancreatic Diseases/genetics* ; Ubiquitin-Protein Ligases/genetics*

Chronic HBV infection (CBI) overlapping with nonalcoholic fatty liver disease (NAFLD) is becoming more and more common. Most studies about the influence of overlapping with NAFLD on the natural history of CBI have shown that overlapping with NAFLD promotes not only the development of cirrhosis and hepatocellular carcinoma, but also all-cause mortality including death due to liver disease; however, some studies have reported different outcomes. The etiological diagnosis of liver injury in patients with CBI overlapping with NAFLD is a difficult issue in clinical practice, and liver histopathology is still the gold standard, while it is very important to explore noninvasive diagnostic methods. For patients with CBI overlapping with NAFLD, anti-HBV therapy should be given according to current diagnosis and treatment guidelines for CBI in addition to active prevention and treatment of NAFLD.

The characterization methods in the field of protein adsorption on biological materials in recent years were reviewed from the aspects of protein adsorption amount, adsorption layer thickness, molecular conformational change after protein adsorption, molecular morphology after protein adsorption, and protein molecule adsorption process simulation. These methods include biochemical analysis, surface plasmon resonance (SPR), dissipative quartz crystal microbalance ( QCM-D ) , ellipsometry ( ELM ) , optical interference reflection ( RIFS ) , attenuated total reflection Fourier transformed infrared spectroscopy (ATR-FTIR), circular dichroism (CD), atomic force microscopy ( AFM ) and computer molecular simulation techniques . In this paper , the basic principles , the advantages and disadvantages of the above characterization methods and related researches were reviewed. This paper provides a comprehensive and reliable basis for the selection of protein experimental characterization methods in protein adsorption, biomaterial design and other research, and provides new ideas for research in the field of protein.

OBJECTIVE: To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C. METHODS: The patient underwent clinical examination and was subjected to next generation sequencing. Suspected mutations were validated by Sanger sequencing. Potential impact of the novel mutation was predicted by SIFT, PolyPhen-2 and MutationTaster software. RESULTS: The child has featured hepatosplenomegaly, increased direct bilirubin, jaundiced skin and liver damage. DNA sequencing showed that he has carried compound heterozygous mutations of NPC1 gene, namely c.2728GG (p.P90R), which were inherited from his mother and father, respectively. The c.2728G>A (p.G910S) mutation was previously reported, while the c.269C>G (p.P90R) was a novel mutation. CONCLUSION The child has suffered from Niemann-Pick disease type C due to mutations of NPC1 gene. Above finding has enriched the spectrum of NPC1 mutations and provided a basis for genetic counseling and prenatal diagnosis.
Asian Continental Ancestry Group ; Bilirubin ; Carrier Proteins ; genetics ; Child ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Membrane Glycoproteins ; genetics ; Mutation ; Niemann-Pick Disease, Type C ; genetics

AIM: To investigate the changes of intracellular calcium ion (Ca2+) concentration in mouse H9c2 (2-1) cells transfected with or without FK506 binding protein 12.6(FKBP12.6) gene by ultrasound mediated destruction of microbubbles. METHODS: The pcDNA3.1-FKBP12.6 plasmid, mingled with albumin-coated microbubbles agents, was transfected into H9c2 (2-1) cells by ultrasound-mediated destruction of microbubbles. The H9c2 (2-1) cell growth state was investigated by inverted microscope. The changes of intracellular Ca2+ concentration was determined by laser scanning confocal microscope. The FKBP12.6 protein expression was checked by immunohistochemistry. RESULTS: As compared with control cells, the H9c2 (2-1) cells, transfected with FKBP12.6 gene, grew better, had higher gross intracellular Ca2+ concentration. CONCLUSION: FKBP12.6 gene augments Ca2+ concentration in mouse H9c2 (2-1) cells, enhances the contractibility of the myocardial cell, which may be helpful to improve the myocardial dysfunction.