Eye pain and blurred vision as main complaints in a new case with MDPL syndrome.

INTRODUCTION: We report a novel phenotype of mandibular hypoplasia, deafness, and progeroid features with lipodystrophy (MDPL) syndrome with POLD1 mutation in a Chinese girl. CASE DESCRIPTION: Diabetic retinopathy was detected as the primary manifestation in a Chinese girl with MDPL syndrome carrying a known POLD1 mutation (c.1812_1814delCTC, p.Ser605del). Typical characteristics of the syndrome including mandibular hypoplasia, deafness, progeroid features, and diabetes were detected after comprehensive examinations. The patient suffered from blurred vision and eye pain due to the neovascularization of the retina (vitreous hemorrhage and retinal detachment) and iris (neovascular glaucoma). The literature review revealed that the prevalence of hepatomegaly and abnormal triglyceride levels were significantly higher in female than in male with MDPL syndrome carrying POLD1 mutations. CONCLUSION: These results expand our knowledge regarding the clinical phenotypes of MDPL syndrome with POLD1 mutations. Diabetic retinopathy is a non-negligible complication of MDPL syndrome. The phenotype varies among female and male patients with the syndrome. Hepatomegaly and abnormal triglyceride levels are more common in female patients with MDPL syndrome.

Nonocular Influencing Factors for Primary Glaucoma: An Umbrella Review of Meta-Analysis.

INTRODUCTION: Glaucoma is the main cause of irreversible blindness worldwide. Still, little is known about nonocular risk factors. We use an umbrella review to examine the meta-analytic evidence of the correlation between nonocular factors and glaucoma. METHOD: We searched PubMed and Embase databases up to July 24, 2020. Eligible meta-analyses (MAs) included cohort, case-control, and randomized controlled study designs. Two authors independently extracted the data and evaluated the methodological quality of the MAs. AMSTAR 2 was used to assess the methodological quality of each included MA. RESULTS: This umbrella review contains 22 MAs with 22 unique nonocular factors in total. We identified 11 factors that increase the risk of glaucoma: hyperlipidemia, nocturnal dip in blood pressure, infection with Helicobacter pylori, myopia, obstructive sleep apnea syndrome, corneal properties, diabetes, hypertension, hypothyroidism, migraine, and plasma homocysteine. We identified 3 factors that reduce the risk of glaucoma: dietary intake of vitamin A, dietary intake of vitamin C, and short-term statin use. We identified 8 factors that had no association with glaucoma: dietary intake of vitamin B, dietary intake of vitamin E, cigarette smoking, Alzheimer's disease, serum folic acid, serum vitamin B6, serum vitamin B12, and serum vitamin D. CONCLUSIONS: In this umbrella review of MAs, evidence was found for associations of various nonocular factors with glaucoma to different degrees. However, risk factors were only mildly associated, suggesting low impact of systemic risk factors. Additional higher quality studies are needed to provide robust evidence.

Preparation and Mechanical Behavior of Ultra-High Strength Low-Carbon Steel.

The low-carbon steel (~0.12 wt%) with complete martensite structure, obtained by quenching, was cold rolled to get the high-strength steel sheets. Then, the mechanical properties of the sheets were measured at different angles to the rolling direction, and the microstructural evolution of low-carbon martensite with cold rolling reduction was observed. The results show that the hardness and the strength gradually increase with increasing rolling reduction, while the elongation and impact toughness obviously decrease. The strength of the sheets with the same rolling reduction are different at the angles of 0°, 45°, and 90° to the rolling direction. The tensile strength (elongation) along the rolling direction is higher than that in the other two directions, but the differences between them are not obvious. When the aging was performed at a low temperature, the strength of the initial martensite and deformed martensite increased with increasing aging time during the early stages of aging, followed by a gradual decrease with further aging. However, the elongation increases with increasing aging time. The change of hardness is consistent with that of strength for the cold-rolled martensite, while the hardness of the initial martensite decreases gradually with increasing aging time.

Structural Properties and Phase Stability of Primary Y Phase (Ti2SC) in Ti-Stabilized Stainless Steel from Experiments and First Principles.

The morphology and microstructural evaluation of Y phases in AISI 321 (a Ti-stabilized stainless steel) were characterized after hot deformation. The electronic structure and phase stability of titanium carbosulfide were further discussed by first-principle calculations. It was found that Y phases, like curved strips or bones in AISI 321 stainless steel, mostly show a clustered distribution and are approximately arranged in parallel. The width of the Y phase is much less than the length, and the composition of the Y phase is close to that of Ti2SC. Y phases have exceptional thermal stability. The morphology of Y phases changed considerably after forging. During the first calculations, the Ti2SC with hexagonal structure does not spontaneously change into TiS and TiC; however Ti4S2C2 (Z = 2) can spontaneously change into the two phases. The Ti-S bonds are compressed in Ti4S2C2 cells, which leads to poor structural stability for Ti4S2C2. There is a covalent interaction between C/S and Ti, as well as an exchange of electrons between Ti and S/C atoms. Evidently, the mechanical stability of Ti4S2C2 is weak; however, Ti2SC shows high stability. Ti2SC, as a hard brittle phase, does not easily undergo plastic deformation.