Summary
Background
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinization, characterized primarily by abnormal skin scaling over the whole body ...surface. Recently, ARCI has been designated to include the major forms of lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) and harlequin ichthyosis. The first two conditions are the most common major clinical subtypes, and both are caused principally by mutations in the transglutaminase 1 gene, TGM1, although other genes may be responsible in some cases.
Aim
To identify the genetic mutations underlying LI in a Chinese family with LI, and to review all the known TGM1 mutations in Chinese patients with ARCI.
Methods
The proband had the severe classic LI phenotype, and was a member of a four‐generation family with close blood relationships. We sequenced the DNA of the patients and close relatives. We also reviewed 13 Chinese patients with ARCI from 8 reported families, comprising 10 patients with LI, 2 with CIE and 1 with bathing suit ichthyosis.
Results
We characterized 14 different TGM1 mutations. Six of these were reported in other ethnic groups initially and later in Chinese patients, while the remaining eight were first described in Chinese patients. Of the latter, five have been reported only in Chinese patients, while the remaining three have also been reported in other ethnic groups.
Conclusion
This study expands the current spectrum on TGM1 mutation and increases the knowledge of TGM1 mutation characteristics.
Abstract
This research aims to investigate the passivation and corrosion behaviour of modified S13Cr stainless steel (SS) in ultra-high temperature geothermal fluids. In this study, S13Cr SS before ...and after modified were both immersed in a simulated geothermal fluid environment with a temperature of 210°C and CO
2
pressure of 3 MPa for 120 h. The results show that the modified S13Cr SS had smaller grain size and lower reverse austenite content, and exhibited higher transpassive potential and lower passive current density in the ultra-high temperature environment. After 120 h of immersion, the passivation film of the modified 13Cr SS was completely dissolved, and a corrosion product film mainly composed of FeCO
3
and FeCr
2
O
4
formed with localized corrosion occurring. Moreover, a Ni-rich barrier layer formed at the interface between the inner layer of the product film and the substrate, which hindered the penetration of the corrosive medium. Additionally, the residual MoO
2
in the product film played a stabilizing role. Overall, the corrosion resistance of the modified S13Cr SS in ultra-high temperature geothermal fluids is improved.
The corrosion evolution mechanism of N80 tubing steel in 8 MPa supercritical CO2 and 0.1 MPa H2S environment was investigated. The results show that although the corrosion rate of N80 steel decreases ...with the prolonged corrosion time, it still maintains a high level of about 1.06 mm/y after a long period of 360 h. As the corrosion progresses, the corrosion products change from FeS to a mixture of FeS and FeCO3. The corrosion form of N80 steel changes from uniform corrosion to localized corrosion. The origin credited for localized corrosion is the detachment of large particles of FeS in the early corrosion stage. A double-layer film consisting of an outer layer of FeS and an inner layer of FeCO3 forms in the area of corrosion pits after a prolonged period of corrosion, which provides protection for the substrate, thereby causing the decrease of localized corrosion rate of N80 steel.
Heparan sulfate proteoglycans (HSPG) have been implicated in regulating the signalling activities of secreted morphogen molecules including Wingless (Wg), Hedgehog (Hh) and Decapentaplegic (Dpp). ...HSPG consists of a protein core to which heparan sulfate (HS) glycosaminoglycan (GAG) chains are attached. The formation of HS GAG chains is catalyzed by glycosyltransferases encoded by members of the EXT family of putative tumor suppressors linked to hereditary multiple exostoses. Previous studies in Drosophila demonstrated that tout-velu ( ttv ), the Drosophila EXT1 , is required for Hh movement. However, the functions of other EXT family members are unknown. We have identified and isolated the other two members of the Drosophila EXT family genes, which are named sister of tout-velu ( sotv ) and brother of tout-velu ( botv ), and encode Drosophila homologues of vertebrate EXT2 and EXT-like 3 (EXTL3), respectively. We show that both Hh and Dpp signalling activities, as well as their morphogen distributions, are defective in cells mutant for ttv , sotv or botv in the wing disc. Surprisingly, although Wg morphogen distribution is abnormal in ttv , sotv and botv , Wg signalling is only defective in botv mutants or ttv-sotv double mutants, and not in ttv nor sotv alone, suggesting that Ttv and Sotv are redundant in Wg signalling. We demonstrate further that Ttv and Sotv form a complex and are co-localized in vivo. Our results, along with previous studies on Ttv, provide evidence that all three Drosophila EXT proteins are required for the biosynthesis of HSPGs, and for the gradient formation of the Wg, Hh and Dpp morphogens. Our results also suggest that HSPGs have two distinct roles in Wg morphogen distribution and signalling.
Microstructure and hardness of a powder-bed-type selective laser melted Ti–6Al–4V alloy after post heat treatments at from 300 °C to 1020 °C were systematically investigated by using optical ...microscope (OM), scanning electron microscope (SEM), transmission electron microscope (TEM) and Vickers hardness (HV) tester. Long columnar original β grains together with the inside dominated parallel acicular martensite in the side view, and chessboard pattern in the top view, were found in the as-received specimen. The subtransus heat treatment does not enable modification of the morphology of the original columnar β grain, only leading to the acicular α′ martensite decomposition into the α platelet and whether surrounded β phase or transformed α′ phase depending on the heating temperature; while the supertransus heat treatment would thoroughly break up the original long columnar β grain, leaving only big original equiaxial β grain filled with the new forming weave-type acicular α′ martensite like the supertransus heat treated wrought specimen. Vickers hardness evolution strictly follows the trend of the microstructural change as the heating temperature increasing, and the double peak phenomenon of the Hardness–Temperature plot should be attributed to substructural refinement effect at around 500 °C, martensitic refinement effect at around 1000 °C, and softening effect resulting from the completely decomposition of the martensite at around 875 °C.
•Heat treatment affects microstructure and hardness of the SLM Ti–6Al–4V alloy.•The as-received alloy is of columnar β grains with the inside acicular martensites.•The as-received martensites decompose into α and β/βt plates during heating.•Double peak phenomenon appears in the Microhardness–Temperature plot.
The purpose of this study was to investigate the influence of interleukin(IL)-22 on the Janus kinase/ signal transducer and activator of transcription 3 (JAK/STAT3) signaling pathway and ...sepsis-induced liver injury in rats. A total of 48 Sprague-Dawley rats were randomly divided into sham-operated group (n=12), model group (n=12), low-dose group (n=12) and high-dose group (n=12). Next, rat models of sepsis-induced liver injury were established through cecal ligation and puncture (CLP). At 12 h after surgery, blood was collected by heart puncture to detect liver function of the rats. It was found that the activity of alanine aminotransferase (ALT) and aspartame aminotransferase (AST) and the content of total bilirubin were reduced in low-dose group and high-dose group. Hematoxylin-eosin (HE) staining results revealed that after treatment with IL-22, the liver injury was relieved compared with model group. Moreover, the results of TUNEL staining assay revealed that the apoptosis level of liver cells declined after treatment with IL-22. Enzyme-linked immunosorbent assay (ELISA) results demonstrated that the levels of IL-6 and TNF-α were reduced, while the level of IL-10 was increased after treatment with IL-22. Moreover, it was discovered that the SOD content was overtly elevated in low-dose and high-dose groups compared with that in the model group. Finally, using Western blotting, it was confirmed that in comparison with the model group, the levels of Bcl-2/Bax and JAK/STAT3 signaling pathway-related proteins were markedly raised, while the level of Caspase-3 was decreased in the low-dose and high-dose groups. In conclusion, IL-22 can improve liver function, reduce the apoptosis level of liver cells, the expression of apoptosis-related proteins and the release of inflammatory factors, and alleviate liver injury by activating the JAK/STAT3 signaling pathway.
In this phase 1–2 study involving patients with relapsed or refractory myeloma, a bispecific antibody (teclistamab) that mediates T-cell activation and subsequent lysis of myeloma cells expressing ...B-cell maturation antigen induced responses in 63% of the patients, including a complete response in nearly 40%.
The current study summarized the clinical characteristics of 8 patients with central nervous system anaerobic infections who visited the Second Hospital of Hebei Medical University from June 2019 to ...June 2021. Among the 8 patients, 7 cases had headache and fever as the first symptoms, and 1 case had left-sided limb weakness as the first symptom. Four patients had a previous history of diabetes (1 patient had a history of tooth extraction before the onset of the disease), 1 patient had a previous history of sinusitis, 1 patient had a history of tooth extraction before the onset of the disease, and 2 patients had chronic extensive periodontitis or periapical periodontitis. Five cases showed abnormal intracranial and/or meningeal enhancement on cranial magnetic resonance imaging (MRI), and 1 case showed swelling of the whole brain tissue on cranial computed tomography (CT). After treatment, symptoms of 4 cases were improved, symptoms of 1 case were aggravated, and 3 cases died. Anaerobic infections can occur in
PDF
