OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with congenital cataracts. METHODS: Clinical data and peripheral blood samples were collected for the pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out to detect genetic variants. Candidate variants were verified by familial co-segregation analysis and Sanger sequencing. Bioinformatics analysis was carried out to predict the function of mutant genes. RESULTS: By comparing variants identified among affected and unaffected individuals, a heterozygous variant, c.110 G>C (p.R37P), was identified in exon 2 of the CRYGC gene among all patients, which also matched the criteria for potential disease-causing mutations. The result was confirmed by Sanger sequencing. CONCLUSION The c.110G>C variant of the CRYGC gene probably underlay the congenital cataracts in this pedigree.
Asian Continental Ancestry Group ; Cataract ; congenital ; genetics ; China ; Heterozygote ; Humans ; Mutation ; Pedigree ; gamma-Crystallins ; genetics

It is difficult to get sufficient roughness on titanium implant surface using traditional electrochemical treatments. In this study, we have developed a new method which provides a hybrid structured titanium surface having micro/nano roughness using electrochemical treatment in NaCl electrolyte and hydrothermal treatment. Titanium disks were anodically oxidized (ANO) in 0.15M NaCl electrolyte by applying positive electric pulses. The oxide compounds loosely attached to the surface were removed by ultrasonic cleaning (ANO group). These specimens were hydrothermally (HT) treated in an alkaline solution (ANO-HT group). ANO group showed the dimpled grain surfaces with a diameter of approximately 30 µm, and its roughness (Ra) was about 2.4 µm. The nano-sized crystallites which had an anatase TiO₂ crystalline structure were uniformly distributed on the surface of ANO-HT group. This group still retained high roughness (~2.7 µm) similar to ANO group and showed high hydrophilicity. Titanium surface with high roughness and hydrophilicity was fabricated using new electrochemical treating method and hydrothermal treatment. This surface modification method could be used for enhancing the osteoconductivity of the titanium implants.
Crystallins ; Hydrophobic and Hydrophilic Interactions ; Methods ; Titanium ; Ultrasonics

PURPOSE: To report a case of infectious crystalline keratopathy caused by Alternaria in the corneal center. CASE SUMMARY: A 66-year-old male visited our clinic with right ocular pain and visual loss after corneal trauma caused by a foreign body hitting his right eye while performing farm work 1 month prior to his visit. The patient had no history of corneal surgery and long-term use of topical corticosteroid. A corneal epithelial defect and whitish snowflake margin infiltration around the corneal stroma were observed in the corneal center, but there was an absence of conjunctival injection and anterior segment inflammation. Cultures and a biopsy of the corneal scrapings revealed Alternaria species fungus. The patient was treated with 1% topical voriconazole and 0.5% moxifloxacin, together with oral voriconazole (400 mg/day). After 2 months of treatment, the disease was completely cured, with a minute corneal opacity. CONCLUSIONS: We successfully treated a rare case of infectious crystalline keratopathy caused by Alternaria, which has not been previously reported in the Republic of Korea.
Aged ; Agriculture ; Alternaria ; Biopsy ; Corneal Injuries ; Corneal Opacity ; Corneal Stroma ; Crystallins ; Foreign Bodies ; Fungi ; Humans ; Inflammation ; Male ; Republic of Korea ; Voriconazole

<b>OBJECTIVEb>To identify the disease-causing gene mutations in three Chinese pedigrees affected with congenital inherited cataract, in ordre to provide genetic counseling and prenatal diagnosis.

<b>METHODSb>Using exons combined target region capture sequencing chip to screen the candidate disease-causing mutations, Sanger sequencing was used to confirm the disease-causing mutations.

<b>RESULTSb>Family 1 was polymorphic cataract, family 2 was cerulean cataract, family 3 was coralliform cataract. The inheritance mode of the three pedigrees consisted with autosomal dominant inheritance. In family 1, a nonsense mutation of CRY&beta;B2 gene c.463C>T in exon 6 result in a p.Q155X amino acid change. In family 2, a missense mutation of of CRYGD gene c.43C>T in exon 2 result in a p.R14C amino acid change. In family 3, a missense mutation of CRYGD gene c.70C>A in exon 2 result in a p.P23T amino aid change. No above-mentioned mutations were found in normal individuals.

<b>CONCLUSIONb>The nonsense mutation c.463C>T (p.Q155X) of CRY&beta;B2 gene, the heterozygous mutations c.43C>T(p.R14C) of CRYGD gene and c.70C>A( p.P23T) of CRYGD gene was the disease-causing gene mutation in family 1, 2 and 3 respectively, our results provid genetic counseling and prenatal diagnosis for these three families.

Cataract ; genetics ; Genetic Counseling ; Humans ; Mutation ; Pedigree ; Prenatal Diagnosis ; beta-Crystallin B Chain ; genetics ; gamma-Crystallins ; genetics

The computer-aided design/computer-aided manufacturing (CAD/CAM) system was introduced to shorten the production time of all-ceramic restorations and the number of patient visits. Among these types of ceramic for dental CAD/CAM, they have been processed into inlay, onlay, and crown shapes using leucite-reinforced glass-ceramics to improve strength. The purpose of this study was to observe the mechanical properties and microstructure of leucite-reinforced glass-ceramics for dental CAD/CAM. Two types of leucite-reinforced glass-ceramic blocks (IPS Empress CAD, Rosetta BM) were prepared with diameter of 13 mm and thickness of 1 mm. Biaxial flexural testing was conducted using a piston-on-three-ball method at a crosshead speed of 0.5 mm/min. Weibull statistics were used for the analysis of biaxial flexural strength. Fracture toughness was obtained using an indentation fracture method. Specimens were observed by field emission scanning electron microscopy to examine the microstructure of the leucite crystalline phase after acid etching with 0.5% hydrofluoric acid aqueous solution for 1 minute. The results of strength testing showed that IPS Empress CAD had a mean value of 158.1±8.6 MPa and Rosetta BM of 172.3±8.3 MPa. The fracture toughness results showed that IPS Empress CAD had a mean value of 1.28±0.19 MPa·m(1/2) and Rosetta BM of 1.38±0.12 MPa·m(1/2). The Rosetta BM sample exhibited higher strength and fracture toughness. Moreover, the crystalline phase size and ratio were increased in the Rosetta BM sample. The above results are expected to elucidate the basic mechanical properties and crystal structure characteristics of IPS Empress CAD and Rosetta BM. Additionally, they will help develop leucite-reinforced glass-ceramic materials for CAD/CAM.
Ceramics ; Crowns ; Crystallins ; Humans ; Hydrofluoric Acid ; Inlays ; Methods ; Microscopy, Electron, Scanning

PURPOSE: To assess the degree of conversion (DC) and light irradiance delivered to light-cured and dual-cured cements by application of different light sources through various types of monolithic computer-aided design and computer-aided manufacturing (CAD/CAM) materials. MATERIALS AND METHODS: RelyX Ultimate Clicker light-cured and dual-cured resin cement specimens with 1.5-mm thicknesses (n=300, 10/group), were placed under four types of crystalline core structure (Vita Enamic, Vita Suprinity, GC Ceresmart, Degudent Prettau Anterior). The specimens were irradiated for 40 seconds with an LED Soft-Start or pulse-delay unit or 20 seconds with a QTH unit. DC ratios were determined by using Fourier transform infrared spectroscopy (FTIR) after curing the specimen at 1 day and 1 month. The data were analyzed using the Mann-Whitney U test (for paired comparison) and the Kruskal-Wallis H test (for multiple comparison), with a significance level of P < .05. RESULTS: DC values were the highest for RelyX Ultimate Clicker light-cure specimens polymerized with the LED Soft-Start unit. The combination of the Vita Suprinity disc and RelyX Ultimate Clicker dual-cure resin cement yielded significantly higher values at both timepoints with all light units (all, P < .05). CONCLUSION: Within the limitations of this study, we conclude that the DC of RelyX Ultimate Clicker dual-cure resin cement was improved significantly by the use of Vita Suprinity and the LED Soft-Start light unit. We strongly recommend the combined use of an LED light unit and dual-cure luting cement for monolithic ceramic restorations.
Ceramics ; Computer-Aided Design ; Crystallins ; Polymers ; Resin Cements ; Spectroscopy, Fourier Transform Infrared

In this study, hydroxyapatite (HAp) was coated on titanium using electrochemical deposition (ECD) method at body fluid temperature. The titanium specimens for ECD were prepared by chemically etching treatment using 5M NaOH solution. The electrolyte mixed with 5 mM Ca(NO³)² and 2 mM NH⁴H²PO⁴ which has pH 5 (E2) was adjusted to pH 3 (E1) and pH 6 (E3). The different electric pulses of −10, −15, −30 mA were applied to each specimen. The temperature of electrolytes was kept at 37℃. E1-10, E1-15, E1-30, E2-10, E2-15, E2-30, E3-10, E3-15, and E3-30 groups were prepared for this study. Scanning electron microscope (SEM) images showed that E1-10 and E1-15 groups were not coated and the powder-shaped compounds were formed on E3-15 and E3-30 groups. The cracks were observed on the surface of E1-30 and E2-30 groups. The evenly and stable coated layer was deposited on E2-10, E2-15 and E3-10 groups. The layer coated on titanium surface had an HAp crystalline structure. E1-30 and E2-30 groups had low crystallinity, even though they had thick layer. HAp layer on for E2-10 group was well deposited on the surface because it more aligned to c-axis compared with other groups.
Body Fluids ; Crystallins ; Durapatite ; Electrolytes ; Hydrogen-Ion Concentration ; Methods ; Titanium

Crystalline silica has been classified as a definite carcinogen (Group 1) causing lung cancer by the International Agency for Research on Cancer (IARC). In Korea, crystalline silica has been the most common causal agent for workers to apply to the Korea Workers' Compensation and Welfare Service (KWCWS). We used KWCWS data to evaluate workers' crystalline silica exposure levels according to their occupations and industries, and reviewed research papers describing the dose-response relationship between cumulative exposure levels and lung cancer incidence. In addition, we reviewed lung cancer cases accepted by the KWCWS, and suggest new criteria for defining occupational cancer caused by crystalline silica in Korea. Rather than confining to miners, we propose recognizing occupational lung cancer whenever workers with pneumoconiosis develop lung cancer, regardless of their industry. Simultaneous exposure and lag time should also be considered in evaluations of work-relatedness.
Crystallins ; Incidence ; International Agencies ; Korea ; Lung Neoplasms ; Miners ; Occupations ; Pneumoconiosis ; Silicon Dioxide ; Workers' Compensation

STUDY DESIGN: Case report OBJECTIVES: We report a case of surgically proven tophaceous gout of the lumbar spine at the L5-S1 level in a 43-year-old man that mimicked infectious spondylodiscitis and epidural abscess on magnetic resonance (MR) images. SUMMARY OF LITERATURE REVIEW: Some patients have chronic back pain with an epidural mass. Among the many causes of epidural masses, tophaceous gout of the lumbar spine is very rare. MATERIALS AND METHODS: A 43-year-old man presented with fever and chronic back pain with radiating pain. In an MR image of L4-5, an abnormal subcutaneous mass was found in the posterior epidural space. The subcutaneous mass was isointense on T1-weighted images compared with the intervertebral disc, and focally and strongly hyperintense and heterogeneous on T2-weighted images. After the intravenous administration of gadolinium contrast, the mass was fairly homogenous, with a low signal intensity and without enhancement. With the diagnosis of infective spondylitis with epidural abscess, we performed a decompressive mass resection. RESULTS: The pathologic examination revealed multinuclear giant cells and amorphous crystalline fibrous tissue. The lesion was diagnosed as tophaceous gout. CONCLUSIONS: This case underscores the importance of considering tophaceous gout in the differential diagnosis of an epidural mass in a patient with chronic back pain.
Administration, Intravenous ; Adult ; Back Pain ; Crystallins ; Diagnosis ; Diagnosis, Differential ; Discitis ; Epidural Abscess ; Epidural Space ; Fever ; Gadolinium ; Giant Cells ; Gout ; Humans ; Intervertebral Disc ; Magnetic Resonance Imaging ; Spine ; Spondylitis

Particulate matter (PM) has been found to damage vital body organs, including the lungs and heart, through vascular damage and oxidative stress. Recently, renal function and chronic urologic diseases have also been found to be related to PM. To investigate this, we reviewed the characteristics of PM related to renal toxicity, including recent studies on the associations of urologic diseases with PM. PM can include constituents that cause renal toxicity, such as lead, cadmium, arsenic, and crystalline silica, which result in renal tubular or interstitial damage. Since 2008, 7 studies have evaluated the renal effects of PM. Two prospective cohort studies and a quantitative study of consecutive patients showed that PM may be related to decreased renal function, as shown by the estimated glomerular filtration rate of diseased or aged participants. Two cross-sectional studies found an association between PM and chronic kidney disease. One of those studies identified the specific renal diseases of immunoglobulin A nephropathy and membranous nephropathy. Two studies that analyzed renal cancer and PM showed no evidence that renal cancer is related to PM. Nine studies were evaluated regarding the relationship of bladder and prostate cancer with PM. The evidence for an association of PM with bladder and prostate cancer is still inconclusive. Although some recently published studies have shown a significant relationship, the causal relationship is not clear. Further well-designed studies on specific renal diseases are required.
Arsenic ; Cadmium ; Cohort Studies ; Cross-Sectional Studies ; Crystallins ; Environmental Exposure ; Glomerular Filtration Rate ; Glomerulonephritis, IGA ; Glomerulonephritis, Membranous ; Heart ; Humans ; Kidney Neoplasms ; Lung ; Occupational Diseases ; Oxidative Stress ; Particulate Matter* ; Prospective Studies ; Prostatic Neoplasms ; Renal Insufficiency, Chronic ; Silicon Dioxide ; Urinary Bladder ; Urologic Diseases*