The paper reports a case of Fabry disease in a child with non-singular nocturnal enuresis as the first symptom. The boy developed unexplained nocturnal enuresis with frequent daytime urination since the age of 6. Fabry disease was detected and diagnosed by chance through high-risk screening. The activity of α-galactosidase A by dry blood spot was 1.97 μmol·L -1·h -1 , and there was c.640-801G>A mutation in GLA gene. Urine routine, urinary microprotein and renal function were normal. However, there were mulberry bodies found in urine deposition microscopy, suggesting the presence of kidney injury. This case suggests that enuresis can be the first symptom of Fabry disease, and mulberry bodies can be seen in the urine at the early stage of the disease.

Objective To compare the effects of 3M Sof-LexTM,EVE DIAPRO and TobooM glass-ceramic polishing kits on the polishing of IPS e.max CAD all-ceramic restorations.Methods A total of 120specimens of IPS e.max CAD glass-ceramic restorations were selected and divided into 4groups according to the surface treatment method:3M group(3M Sof-LexTM polishing kit),EVE group(EVE DIAPRO polishing kit),Tob group(TobooM glass-ceramic polishing)and the control group(conventional glazing treatment),30specimens in each group.Surface roughness,gloss,Vickers hardness,fracture toughness,bacterial adhesion,pigmentation,flexural strength and degree of enamel wear were compared between the groups after treatment.Results There was no significant difference in Vickers hardness among the groups(P＞0.05);the mean deviation of contour arithmetic(Ra value)from low to high in order of control group＜3M group＜Tob group＜EVE group in descending order,the amount of bacterial adherence,the mean height of unevenness(Rz value),and the value of colour difference(ΔE value)from low to high in order of control group＜3M group＜EVE group＜Tob group in descending order,and glossiness and fracture toughness from high to low in order of control group＞3M group＞EVE group＞Tob group,flexural strength from high to low in order of 3M group＞control group＞EVE group＞Tob group,volume loss from high to low in order of control group＞Tob group＞EVE group＞3M group,there were no statistically significant differences in gloss,ΔE value,bacteri-al adhesion,volume loss among groups(P＜0.05),there were no statistically significant differences in Ra value,Rz value,fracture toughness between 3M group and control group(P＞0.05),and differed significantly from the EVE group and Tob group(P＜0.05).Conclusion Different polishing treatments can reduce IPS e.max CAD all-ceramic surface roughness,the amount of bacterial adhesion,pigmentation and enamel abrasion,and improve gloss,fracture toughness and flexural strength,of which the 3 M Sof-LexTM polishing set has the best overall effect,similar to the effect of glazing.

Objective To compare the effects of 3M Sof-LexTM,EVE DIAPRO and TobooM glass-ceramic polishing kits on the polishing of IPS e.max CAD all-ceramic restorations.Methods A total of 120specimens of IPS e.max CAD glass-ceramic restorations were selected and divided into 4groups according to the surface treatment method:3M group(3M Sof-LexTM polishing kit),EVE group(EVE DIAPRO polishing kit),Tob group(TobooM glass-ceramic polishing)and the control group(conventional glazing treatment),30specimens in each group.Surface roughness,gloss,Vickers hardness,fracture toughness,bacterial adhesion,pigmentation,flexural strength and degree of enamel wear were compared between the groups after treatment.Results There was no significant difference in Vickers hardness among the groups(P＞0.05);the mean deviation of contour arithmetic(Ra value)from low to high in order of control group＜3M group＜Tob group＜EVE group in descending order,the amount of bacterial adherence,the mean height of unevenness(Rz value),and the value of colour difference(ΔE value)from low to high in order of control group＜3M group＜EVE group＜Tob group in descending order,and glossiness and fracture toughness from high to low in order of control group＞3M group＞EVE group＞Tob group,flexural strength from high to low in order of 3M group＞control group＞EVE group＞Tob group,volume loss from high to low in order of control group＞Tob group＞EVE group＞3M group,there were no statistically significant differences in gloss,ΔE value,bacteri-al adhesion,volume loss among groups(P＜0.05),there were no statistically significant differences in Ra value,Rz value,fracture toughness between 3M group and control group(P＞0.05),and differed significantly from the EVE group and Tob group(P＜0.05).Conclusion Different polishing treatments can reduce IPS e.max CAD all-ceramic surface roughness,the amount of bacterial adhesion,pigmentation and enamel abrasion,and improve gloss,fracture toughness and flexural strength,of which the 3 M Sof-LexTM polishing set has the best overall effect,similar to the effect of glazing.

The paper reports a case of Fabry disease in a child with non-singular nocturnal enuresis as the first symptom. The boy developed unexplained nocturnal enuresis with frequent daytime urination since the age of 6. Fabry disease was detected and diagnosed by chance through high-risk screening. The activity of α-galactosidase A by dry blood spot was 1.97 μmol·L -1·h -1 , and there was c.640-801G>A mutation in GLA gene. Urine routine, urinary microprotein and renal function were normal. However, there were mulberry bodies found in urine deposition microscopy, suggesting the presence of kidney injury. This case suggests that enuresis can be the first symptom of Fabry disease, and mulberry bodies can be seen in the urine at the early stage of the disease.

C3 glomerulopathy is a rare disease of glomeruli mediated by abnormal activation of alternative complement pathway secondary to congenital genetic defects and acquired autoantibodies.Renal biopsy is the gold standard for diagnosing C3 glomerulopathy.C3 glomerulopathy encompasses both dense deposit disease and C3 glomerulonephritis.The main glomerular immunofluorescence staining is C3, with few or without immunoglobulins deposition, which is the obvious pathological feature.The clinical manifestations of C3 glomerulopathy are usually various, with limited detection methods and therapies and poor prognosis.This article mainly reviews the progress of C3 glomerulopathy in recent years, in order to improve clinical understanding of C3 glomerulopathy, and choose individualized therapy.

Objective:To investigate the effects of long non-coding RNA (lncRNA) FBXL19-AS1 on the proliferation, migration and invasion of pancreatic cancer cells, and to determine the targeting relationship of lncRNA FBXL19-AS1 and microRNA-339-3p (miR-339-3p).Methods:From January 2017 to August 2019, 73 cancer tissues and matched normal pancreatic tissues adjacent to cancer from patients pathologically diagnosed as pancreatic cancer who underwent surgical resection in Yantai Hospital of Yantai were collected. Normal pancreatic epithelial cells (hTERT-HPNE) and 3 pancreatic cancer cell lines (Capan-1, SW1990, PaTu8988) were cultured in vitro. The real-time fluorescent quantitative PCR was used to detect the expression of lncRNA FBXL19-AS1 and miR-339-3p in pancreatic cancer tissues and cell lines. The Capan-1 cells were divided into the NC group (normal control group), si-NC group (transfected with meaningless negative sequence), si-FBXL19-AS1 group (transfected with FBXL19-AS1 small interfering RNA), miR-NC group (transfected with empty plasmid control), miR-339-3p group (transfected with miR-339-3p overexpression lentiviral vector), si-FBXL19-AS1+ anti-miR-339-3p NC group (cotransfected with FBXL19-AS1siRNA and miR-339-3p inhibitor negative control sequence) and si-FBXL19-AS1+ anti-miR-339-3p group (cotransfected with FBXL19-AS1siRNA and miR-339-3p inhibitor). CCK-8 method was used to detect cell proliferation activity. Transwell chamber was used to detect cell migration and invasion ability, and western blotting method was used to detect cell cyclinD1, matrix metalloproteinase 2 (MMP2) and MMP9 protein expression. Bioinformatics and dual luciferase reporter gene experiments were used to analyze the targeting relationship between lncRNA FBXL19-AS1 and miR-339-3p.Results:The expression of lncRNA FBXL19-AS1 in pancreatic cancer tissue was significantly higher than that in normal pancreatic tissue adjacent to cancer (2.96±0.21 vs 1.00±0.13, P<0.05), and the expression of miR-339-3p was significantly lower than that in normal pancreatic tissue adjacent to cancer (0.37±0.05 vs 1.00±0.11, P<0.05). The expression of lncRNA FBXL19-AS1 in Capan-1, SW1990 and PaTu8988 cells were 2.43±0.18, 1.97±0.13 and 1.73±0.14, respectively, which were significantly higher than that of hTERT-HPNE cells 1.00±0.07. The expression of miR-339-3p were 0.42±0.03, 0.54±0.03 and 0.57±0.04, respectively, which were all significantly lower than 1.00±0.05 of hTERT-HPNE cells. Among them, the expression of lncRNA FBXL 19-AS1 in Capan-1 cells was the highest, and the miR-339-3p was the lowest. Compared with the si-NC group, the absorbance value ( A450) of Capan-1 cells in the si-FBXL19-AS1 group, the number of migrating cells, and the number of transmembrane cells were significantly decreased (0.47±0.03 vs 0.94±0.06, 81.00±7.41 vs 187.00±16.13, 67.00±5.41 vs 141.00±9.24), the protein expression of cyclinD1, MMP2 and MMP9 was significantly reduced (0.44±0.03 vs 0.83±0.05, 0.48±0.03 vs 0.92±0.07, 0.38±0.02 vs 0.73±0.05). Compared with the miR-NC group, the A450, the number of migrating cells, and the number of transmembrane cells of Capan-1 cells in the miR-339-3p group were significantly decreased (0.54±0.04 vs 0.94±0.05, 98.00±6.53 vs 193.00±10.02, 83.00±6.58 vs 146.00±7.11, the protein expression of cyclinD1, MMP2 and MMP9 was significantly reduced (0.47±0.03 vs 0.81±0.07, 0.43±0.03 vs 0.94±0.06, 0.32±0.02 vs 0.71±0.06). Compared with the si-FBXL19-AS1+ anti-miR-NC group, the A450, the number of migrating cells and the number of transmembrane cells in the si-FBXL19-AS1+ anti-miR-339-3p group increased significantly (0.96±0.07 vs 0.48±0.03, 204.00±11.25 vs 83.00±5.11, 157.00±8.76 vs 64.00±4.12, P all <0.05), the protein expression of cyclinD1, MMP2 and MMP9 increased significantly (0.84±0.06 vs 0.42±0.03, 0.96±0.08 vs 0.47±0.08, 0.74±0.06 vs 0.37±0.02, P all <0.05). The luciferase activity of Capan-1 cells cotransfected with WT-FBXL19-AS1 and miR-339-3p mimics was significantly lower than that of the cotransfected with WT-FBXL19-AS1 and miR-NC (0.47±0.04 vs 1.00±0.10, P all <0.05). The difference of the luciferase of Capan-1 cells in the cotransfected MUT-FBXL19-AS1 and miR-339-3p mimics group and the cotransfected MUT-FBXL19-AS1 and miR-NC group was not statistically significant. Conclusions:LncRNA FBXL19-AS1 was highly expressed in pancreatic cancer tissues and Capan-1 pancreatic cancer cell lines. Knockdown of lncRNA FBXL19-AS1 can target miR-339-3p to regulate the proliferation, migration and invasion of pancreatic cancer cells, and promote the occurrence and development of pancreatic cancer.

OBJECTIVETo analyze the clinical phenotype of a Chinese pedigree affected with hereditary dentinogenesis imperfecta and mutation of dentin sialophosphoprotein (DSPP) gene.

METHODSAffected members underwent intraoral photography, dental film and panoramic radiography. Genomic DNA was extracted from peripheral venous blood samples. Coding regions of the DSPP gene were subjected to PCR amplification and Sanger sequencing. Functional effect of the mutation was predicted with SIFT and PolyPhen-2. The tertiary structure of wild type and mutant proteins were predicted by Swiss-Port.

RESULTSA heterozygous c.50C to T (p.P17L) mutation was identified in exon 2 of the DSPP gene in the proband and her father. The same mutation was not found among 200 unrelated healthy controls. The Pro-17 residues and its surrounding positions in DSPP are highly conserved across various species. The mutation was predicted to be damaging to the structure of DSPP protein.

CONCLUSIONThe c.50C to T (p.P17L) mutation of the DSPP gene probably underlies the disease in this pedigree. Above finding has expanded the spectrum of DSPP gene mutations and provided a basis for genetic counseling and prenatal diagnosis for this family.

Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders. We recruited one kindred with autosomal-dominant amelogenesis imperfecta (ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid position 357 of the protein. Exfoliated third molar teeth from the affected family members were found to have enamel and dentin of lower mineral density than control teeth, with thinner and easily fractured enamel, short and thick roots, and pulp obliteration. This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders.
Adult ; Amelogenesis Imperfecta ; genetics ; Cells, Cultured ; China ; Codon ; Dentin ; abnormalities ; ultrastructure ; Female ; Humans ; Male ; Microsatellite Repeats ; Microscopy, Electron, Scanning ; Middle Aged ; Mutation, Missense ; Pedigree ; RNA ; analysis ; Transfection ; Whole Exome Sequencing

OBJECTIVE: Study on the correlation between chronic sinusitis with nasal septum deviation. METHOD: Randomly selected 722 patients with coronal sinuses CT, statistics the number of cases of nasal septum deviation, cases of nasal septum deviation with chronic sinusitis, the wide and narrow side cases of nasal septum deviation complicated with sinusitis. The number of sinusitis without deviation, and paired test. RESULT: The incidence of sinusitis between deviation of nasal septum and non deviation were 54. 13% and 44. 66%, the difference between two groups was statistically significant (P<. 05), the incidence of sinusitis with nasal septum deviation of wide and narrow side were 31. 65% and 32. 12%, no significant difference between the two groups (P>0. 01). The incidence of sinusitis high deviation and non high deviation were 59. 54% and 46. 97%, the difference between the two groups was statistically significant (P<0. 05). The number of wide side of upper nasal septum deviation with sinusitis was 54, the narrow side was 66, there is no significant difference between the two groups (P>0. 05). CONCLUSION The deviation of nasal septum is associated with the formation of chronic sinusitis, the high deviation is more prone to sinusitis, The incidence of sinusitis and nasal septum deviation on both sides was no different.
Chronic Disease ; Humans ; Incidence ; Nasal Septum ; pathology ; Sinusitis ; physiopathology ; Tomography, X-Ray Computed