A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.     

Adsorptive Removal of Manganese Ions from Polluted Aqueous Media by Glauconite Clay-Functionalized Chitosan Nanocomposites

The presence of Mn(II) in water exceeding the permitted concentration limits declared by the World Health Organization (WHO) influences individuals, animals, and the ecosystem negatively. Therefore, there is a necessity for an efficient material to eliminate this potentially toxic element from wastewater. We herein focused on the adsorptive removal of Mn(II) ions from polluted aqueous media using natural Egyptian glauconite clay (G) and its nanocomposites with modified chitosan (CS). We applied modified chitosan with glutaraldehyde (GL), ethylenediaminetetraacetic acid (EDTA), sodium dodecyl sulfate (SDS), and cetyltrimethyl ammonium bromide (CTAB). The utilized nanocomposites were referred to as GL-CS/G, EDTA-GL-CS/G, SDS-CS/G, and CTAB-CS/G, respectively. The point of zero charge values of the materials were estimated. The adsorption properties of the G clay and its nanocomposites toward the removal of Mn(II) ions from polluted aqueous media as well as the adsorption mechanism were explored using a batch technique. The glauconite (G) and its nanocomposites: GL-CS/G, CTAB-CS/G, EDTA-GL-CS/G, and SDS-CS/G, exhibited maximum adsorption capacity values of 3.60, 24.0, 26.0, 27.0, and 27.9 mg g^?1, respectively. The adsorption results fitted well the Langmuir isotherm and pseudo-second-order kinetic models. The estimated thermodynamic parameters: ΔH° (from 1.03 to 5.55 kJ/mol) and ΔG° (from ? 14.5 to ? 18.8 kJ/mol), indicated that Mn(II) ion adsorption process was endothermic, spontaneous, and physisorption controlled. Furthermore, the obtained adsorption results are encouraging and revealing a great potentiality for using the modified adsorbents as accessible adsorbents for Mn(II) ion removal from polluted aqueous solutions, depending on their reusability, high stability, and good adsorption capacities.

Graphic Abstract

     

Influence of aluminum phosphate on the tribocorrosion performance of chemically bonded phosphate ceramic coatings

In this study, chemically bonded phosphate ceramic coatings (CBPCCs) with different contents of aluminum phosphate (AP) are prepared on stainless steel (AISI 304L). Differential scanning calorimetry, X-ray diffraction, contact angle test, and a tribocorrosion experiment are carried out to clarify the role of AP in the tribocorrosion performance of CBPCCs. The results show that, with the increase in the AP content, the enthalpy of curing increases because of the greater formation of the bonding phase AlPO₄. Both in static corrosion and in tribocorrosion, the corrosion current density of CBPCCs achieves the lowest value when the weight ratio of AP to polytetrafluoroethylene is about 0.78. Additionally, the influence mechanism of AP on tribocorrosion is clarified. AlPO₄ from the reaction between AP and Al₂O₃ has excellent mechanical properties and can enhance the wear resistance of CBPCCs by reducing the mechanical wear and the increased wear due to corrosion. The alumina particles wrapped by AlPO₄ can form a dense and smooth surface and change the direction of electrolyte propagation, which leads to the increase in the tribocorrosion resistance of CBPCCs.     

Interfacial microstructure and mechanical properties of Ti3SiC2 ceramic and TC11 alloy joint diffusion bonded with a Cu interlayer

Reliable joints of Ti₃SiC₂ ceramic and TC11 alloy were diffusion bonded with a 50 μm thick Cu interlayer. The typical interfacial structure of the diffusion boned joint, which was dependent on the interdiffusion and chemical reactions between Al, Si and Ti atoms from the base materials and Cu interlayer, was TC11/α-Ti + β-Ti + Ti₂Cu + TiCu/Ti₅Si₄ + TiSiCu/Cu(s, s)/Ti₃SiC₂. The influence of bonding temperature and time on the interfacial structure and mechanical properties of Ti₃SiC₂/Cu/TC11 joint was analyzed. With the increase of bonding temperature and time, the joint shear strength was gradually increased due to enhanced atomic diffusion. However, the thickness of Ti₅Si₄ and TiSiCu layers with high microhardness increased for a long holding time, resulting in the reduction of bonding strength. The maximum shear strength of 251 ± 6 MPa was obtained for the joint diffusion bonded at 850 °C for 60 min, and fracture primarily occurred at the diffusion layer adjacent to the Ti₃SiC₂ substrate. This work provided an economical and convenient solution for broadening the engineering application of Ti₃SiC₂ ceramic.     

Microstructure induced ultra-high energy storage density coupled with rapid discharge properties in lead-free Ba0.9Ca0.1Ti0.9Zr0.1O3–SrNb2O6 ceramics

Novel lead-free (1-x)Ba_0·9Ca_0·1Ti_0·9Zr_0·1O₃-xSrNb₂O₆ ceramics were synthesized via a two-step high energy ball milling process. The evolution of microstructural properties, phase transformation, and energy storage characteristics was comprehensively investigated to assess the applicability of material in multi-layered ceramic capacitors. The substitution of SrNb₂O₆ (SNO) in Ba_0·9Ca_0·1Ti_0·9Zr_0·1O₃ (BTCZ) has resulted in substantial improvement in materials density along with a small increase in the grain size of the synthesized ceramic. A thorough microstructural investigation indicates an excellent dispersibility and compatibility between BTCZ and SNO phases. With an increase in SNO substitution, a transition from typical ferroelectric to relaxor ferroelectric has been observed, which has led to a significantly slimmer ferroelectric loop along with frequency dispersive dielectric properties. The optimized composition (i.e., x = 0.10) exhibits an ultra-high recoverable energy density of 2.68 J/cm³ along with a moderately high energy efficiency of 83.4%. Further, SNO substituted samples have also shown an enhancement in breakdown strength. The improvement in energy storage performance and breakdown strength of SNO substituted BTCZ composites are mainly attributed to relatively homogeneous grain morphology, optimum grain size, microstructural density, and improved grain boundary interface.     

Microstructure and mechanical behavior of laser aided additive manufactured low carbon interstitial Fe49.5Mn30Co10Cr10C0.5 multicomponent alloy

Laser aided additive manufacturing(LAAM)was used to fabricate bulk Fe49.5Mn30Co10Cr10C0.5 interstitial multicomponent alloy using pre-alloyed powder.The room temperature yield strength(σy),ultimate tensile strength(σUTS)and elongation(εUST)were 645 MPa,917 MPa and 27.0％respectively.The as-built sample consisted of equiaxed and dendritic cellular structures formed by elemental segregation.These cellular structures together with oxide particle inclusions were deemed to strengthen the material.The other contributing components include dislocation strengthening,friction stress and grain bound-ary strengthening.The high εUTS was attributed to dislocation motion and activation of both twinning and transformation-induced plasticity(TWIP and TRIP).Tensile tests performed at-40℃and-130℃demonstrated superior tensile strength of 1041 MPa and 1267 MPa respectively.However,almost no twinning was observed in the fractured sample tested at-40℃and-130℃.Instead,higher fraction of strain-induced hexagonal close-packed(HCP)ε phase transformation of 21.2％were observed for fractured sample tested at-40℃,compared with 6.3％in fractured room temperature sample.     

Methods and mechanisms for uniformly refining deformed mixed and coarse grains inside a solution-treated Ni-based superalloy by two-stage heat treatment

The uniform refinement mechanisms and methods of deformed mixed and coarse grains inside a solution-treatment Ni-based superalloy during two-stage annealing treatment have been investigated.The two-stage heat treatment experiments include an aging annealing treatment(AT)and a subsequent recrystallization annealing treatment(RT).The object of AT is to precipitate some δ phases and consume part of storage energy to inhibit the grain growth during RT,while the RT is to refine mixed and coarse grains by recrystallization.It can be found that the recrystallization grains will quickly grow up to a large size when the AT time is too low or the RT temperature is too high,while the deformed coarse grains cannot be eliminated when the AT time is too long or the RT temperature is too low.In addition,the mixed microstructure composed of some abnormal coarse recrystallization grains(ACRGs)and a large number of fine grains can be observed in the annealed specimen when the AT time is 3 h and RT tem-perature is 980℃.The phenomenon attributes to the uneven distribution of δ phase resulted from the heterogeneous deformation energy when the AT time is too short.In the regions with a large number of δ phases,the recrystallization nucleation rate is promoted and the growth of grains is limited,which results in fine grains.However,in the regions with few δ phases,the recrystallization grains around grain boundaries can easily grow up,and the new recrystallization nucleus is difficult to form inside grain,which leads to ACRGs.Thus,in order to obtain uniform and fine annealed microstructure,it is a prereq-uisite to precipitate even-distributed δ phase by choosing a suitable AT time,such as 12 h.Moreover,a relative high RT temperature is also needed to promote the recrystallization nucleation around δ phase.The optimal annealing parameters range for uniformly refining mixed crystal can be summarized as:900℃×12 h+990℃×(40-60 min)and 900℃×12 h+1000℃×(10-15 min).     

Preclinical Evaluation of 99mTc-ZHER2:41071, a Second-Generation Affibody-Based HER2-Visualizing Imaging Probe with a Low Renal Uptake

Radionuclide imaging of HER2 expression in tumours may enable stratification of patients with breast, ovarian, and gastroesophageal cancers for HER2-targeting therapies. A first-generation HER2-binding affibody molecule [^99mTc]Tc-ZHER2:V2 demonstrated favorable imaging properties in preclinical studies. Thereafter, the affibody scaffold has been extensively modified, which increased its melting point, improved storage stability, and increased hydrophilicity of the surface. In this study, a second-generation affibody molecule (designated ZHER2:41071) with a new improved scaffold has been prepared and characterized. HER2-binding, biodistribution, and tumour-targeting properties of [^99mTc]Tc-labelled ZHER2:41071 were investigated. These properties were compared with properties of the first-generation affibody molecules, [^99mTc]Tc-ZHER2:V2 and [^99mTc]Tc-ZHER2:2395. [^99mTc]Tc-ZHER2:41071 bound specifically to HER2 expressing cells with an affinity of 58 ± 2 pM. The renal uptake for [^99mTc]Tc-ZHER2:41071 and [^99mTc]Tc-ZHER2:V2 was 25–30 fold lower when compared with [^99mTc]Tc-ZHER2:2395. The uptake in tumour and kidney for [^99mTc]Tc-ZHER2:41071 and [^99mTc]Tc-ZHER2:V2 in SKOV-3 xenografts was similar. In conclusion, an extensive re-engineering of the scaffold did not compromise imaging properties of the affibody molecule labelled with ^99mTc using a GGGC chelator. The new probe, [^99mTc]Tc-ZHER2:41071 provided the best tumour-to-blood ratio compared to HER2-imaging probes for single photon emission computed tomography (SPECT) described in the literature so far. [^99mTc]Tc-ZHER2:41071 is a promising candidate for further clinical translation studies.     

Flexible Osteogenic Glue as an All-In-One Solution to Assist Fracture Fixation and Healing

Osteogenic glue that reproduces the natural bone composition represents the final frontier of orthopedic adhesives with the potential to revolutionize surgical strategies against comminuted fractures. However, it is difficult to achieve an all-in-one formula, which could provide flexible and reliable adhesiveness while avoiding interfering with or even promoting the healing of glued fractures. Herein, an osteogenic glue characterized by inorganic-in-organic integration between amine-modified mesoporous bioactive glass nanoparticles (AMBGN) and bioadhesive gelatin-dextran network (GelDex) is introduced as an all-in-one tool to flexibly adhere and splice bone fragments and subsequently guide fracture healing during degradation. Relying on such integration, a 4-fold improvement in cohesiveness is presented, followed by a nearly 5-fold enhancement in adhesive strength in ex vivo porcine bone samples. The reversible and re-adjustable adhesiveness also enables glue to effectively splice intricate fragments from highly comminuted fractures in the rabbit radius in an in vivo environment. Moreover, well-preserved organic–inorganic integrity during degradation of the glue guides sustained interfacial osteogenesis and achieve satisfying healing outcomes in glued fractures, as observed by the 2-fold improvement in biomechanical and radiological performance compared with commercially available cyanoacrylate adhesives. The current findings propose an all-in-one solution for the fixation of bone fragments during surgery.     

Wall Rock Alteration,Uranium Mineralization,and Potentiality of Uranium and Iron Dissolution from Mineralized Abu Rusheid Gneiss Rock,South Eastern Desert,Egypt

Radiochemistry - Ferrugination, sericitization, desulfitization, chloritization, and kaolinitization of hydrothermal origin are the main wall rock alterations occurring within the NNW shear zones...