Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP. The most...
详细信息
Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP. The most frequent pathogenic variant in Japanese patients with HPP is a frameshift mutation in the ALPL gene, c.1559delT, and its carrier frequency is reported to be one in 480 in the Japanese population. We report the cases of two Japanese children with HPP who had a heterozygous c.1559delT variant in the ALPL gene. One case (involving a neonate) exhibited respiratory insufficiency associated with vitamin B6 dependent convulsions, significant defective mineralization similar to the severe form of HPP, and extremely low ALP activity. Enzyme replacement therapy (ERT) using asfotase alfa promptly improved her respiratory insufficiency, bone mineral-ization, and maintained her motor development during infancy. The second case involved a 10-year-old boy who demonstrated diffuse musculoskeletal pain and weakness that progressively disturbed mobility. Although he showed no bony lesions, the clinical symptoms and biochemical abnormalities were compatible with childhood HPP. ERT successfully relieved the severe generalized pain and significantly improved motor function.
This research depicts the social networks that the Ethiopian and Eritrean communities use to establish and support ethnic and non-cultural businesses in Washington D.c. It also showcases the solidarity expressions tha...
详细信息
This research depicts the social networks that the Ethiopian and Eritrean communities use to establish and support ethnic and non-cultural businesses in Washington D.c. It also showcases the solidarity expressions that, behind-the-scenes, sustain and help strengthen these migrant-led businesses in the area. Furthermore, it describes the opportunity structure found in Washington D.c. that has allowed Ethiopians and Eritreans to open businesses and progress in neighborhoods such as Adams Morgan and U Street. The study uses ethnographic research comprised of participant observation and in-depth interviews to analyze 20 case studies of successful Ethiopian and Eritrean entrepreneurs in D.c. This paper describes the characteristics of an immigrant community that is underrepresented in the literature, especially regarding its entrepreneurship;it underscores the special role that family and kin play in supporting their entrepreneurship;and it makes visible the impact that Ethiopians and Eritreans have had in some areas of Washington D.c.
Purpose of ReviewTo examine the 'zero tolerance' policy for female genital cutting (FGM/c) in the international health community in light of the growing popularity of FGcS (female genital cosmetic surgery) ***...
详细信息
Purpose of ReviewTo examine the 'zero tolerance' policy for female genital cutting (FGM/c) in the international health community in light of the growing popularity of FGcS (female genital cosmetic surgery) *** Findings'Traditional' FGM/c performed in Egypt and Sudan and cosmetic labiaplasty performed in Europe, the Americas, and Antipodes by medically trained gynaecologists and plastic surgeons are based on similar aesthetic logics: labia minora that protrude beyond the labia majora are deemed ugly, masculine, and 'abnormal'. Drawing on the burgeoning medical, social science, and humanities literature surrounding labiaplasty, the paper documents the narrowing of aesthetic standards governing 'normal' genital appearance and finds that, in addition to adult women, thousands of (mainly caucasian) adolescents have undergone these operations whose long-term health consequences are *** heteronormativity, gender binarism, ageism, and the colonial association of protruding labia minora with animality contribute to body image insecurities and fuel the labiaplasty phenomenon, despite the ethical challenge that the procedures are clearly defined by the WHO as type II (a-c) female genital mutilations.
Different thermodynamic and kinetic aspects of the stability of mercurous nitrite discovered accidentally in 1896 by P. c. Ray's group have been critically analysed in this review article. It has been concluded th...
详细信息
Different thermodynamic and kinetic aspects of the stability of mercurous nitrite discovered accidentally in 1896 by P. c. Ray's group have been critically analysed in this review article. It has been concluded that mercurous nitrite is thermody-namically unstable but it gains the kinetic stability which may originate from the overpotential factor in the gas evolution in its redox decomposition. It may also arise from strengthening the Hg-I-Hg(I)bond which undergoes cleavage at the rate determining step (rds) in the disproportionation of Hg22+or its oxidation by the one-electron oxidant like NO2-. The Hg-1-Hg(I)bond is strengthened through the formation of the relatively weaker Hg-I-O bond (i.e. nitrito linkage) compared to the Hg-I-N bond (i.e. nitro linkage) in mercurous nitrite.
During the last two decades, there has been a surge of interdisciplinary interest in the writings of the radical twentieth-century sociologist c. Wright Mills, and one of the central issues in this wave of scholarship...
详细信息
During the last two decades, there has been a surge of interdisciplinary interest in the writings of the radical twentieth-century sociologist c. Wright Mills, and one of the central issues in this wave of scholarship has been the Mills' relationship to feminism and the place of sex and gender in his social theory. contemporary scholars assert that Mills was largely ignorant about feminism or even hostile to it and that his social theory basically ignores issues of sex and gender. As this essay shows, the existing consensus is fundamentally mistaken. Mills' social theory of sex and gender and his emerging critique of patriarchy were heavily influenced by the 'silent feminists,' Shira Tarrant's name forthe leadingwomen social scientists and philosophers of the 1930s and 40s. Though an analysis of Mills'character and Social StructureandWhite collar, I show that Mills' anti-essentialist conception of gender was inspired by the work of anthropologist Margaret Mead, sociologist Viola Klein, and psychoanalyst Karen Horney. Likewise, through an analysis of Mills' review of Simone de Beauvoir'sThe Second Sex, I show that not only is his critique of Beauvoir rooted in his readings of the silent feminists but also that Beauvoir's influence on Mills' thought can be traced through his most popular works,The Power EliteandThe Sociological Imagination.
Background Lamin A/c-associated heart disease is a group of clinical entities characterized by a mutation in the LMNA gene. Multiple cardiac phenotypes have been described, including a higher risk of sudden death. cas...
详细信息
Background Lamin A/c-associated heart disease is a group of clinical entities characterized by a mutation in the LMNA gene. Multiple cardiac phenotypes have been described, including a higher risk of sudden death. case summary A 23-year-old asymptomatic patient with an extensive history of heart disease in the family consulted the clinic. He had a genetic test performed when he was born revealing a new frameshift mutation in the LMNA gene. Numerous cardiac function tests were ordered, which initially were normal. After a year of follow-up, Holter monitoring was positive for episodes of nonsustained ventricular tachycardia (NSVT). Because of the risk factors and higher likelihood of sudden death, a decision was made to offer an implantable cardiac defibrillator (IcD), which was performed without complications. The patient continues the follow-up with cardiology and electrophysiology consisting of yearly cardiac imaging and device recordings. Discussion Lamins are nuclear proteins involved in various cellular processes in myocardial cells. Therefore, mutations are associated with wide phenotypic alterations. The mutation described here was not previously reported in the literature. In the face of an undescribed mutation, the decision to use an IcD for primary prevention of sudden death is challenging. Because of the episodes of NSVT and a higher likelihood of risk of sudden death due to male sex and first-degree atrioventricular block, the decision to use an IcD was made for this patient, with no complications.
We used a simple MOFs-assisted synthesis strategy based on the encapsulation and in-situ carburizing reaction of cu-based metallic organic frameworks (NENU-5) to synthesize porous nano-octahedral materials, MoWN/ [ema...
详细信息
We used a simple MOFs-assisted synthesis strategy based on the encapsulation and in-situ carburizing reaction of cu-based metallic organic frameworks (NENU-5) to synthesize porous nano-octahedral materials, MoWN/ [email protected] c Ts (T = 700, 800, and 900). Together with the vapor deposition strategy, the volatile nitrogen species from the pyrolysis of dicyandiamide were captured by the nano-octahedral materials, and formed tungsten-molybdenum-based carbonitride nanocrystals encapsulated in nitrogen-doped carbon. The porous nano-octahedron has a unique heterostructure composed of Mo 2 N/Moc/W 2 N/Wc. The representative MoWN/ [email protected] c 800 showed trifunctional electrocatalytic activity in oxygen reduction reaction/oxygen evolution reaction/hydrogen evolution reaction (ORR/OER/HER) in an alkaline medium (0.1 M KOH). The total oxygen electrode activity index ΔE = 0.795 V (vs. RHE) was found in OER/ORR, and the material also exhibits excellent HER performance. The minimum potential of −0.17 V (vs. RHE) was provided at a current density of −10 mA cm −2 . MoWN/ [email protected] c 800 showed excellent cycle stability and durability in ORR/OER/HER with the same electrolyte (0.1 M KOH). More importantly, MoWN/ [email protected] c 800 could be used to construct high-performance zinc-air batteries and sued for driving electrocatalytic water splitting in a self-powered manner. The successful preparation of the materials indicate that the synthetic strategy provides new reference ideas for developing functional materials with high catalytic properties for various applications.
The novel Al 4 O 4 c–(Al 2 Oc) 1- x (AlN) x –Zr 2 Al 3 c 4 –Al 2 O 3 refractories with ultra-low carbon content have been successfully prepared by constructing the core-shell structure of aluminum at 1300–1700...
详细信息
The novel Al 4 O 4 c–(Al 2 Oc) 1- x (AlN) x –Zr 2 Al 3 c 4 –Al 2 O 3 refractories with ultra-low carbon content have been successfully prepared by constructing the core-shell structure of aluminum at 1300–1700°c in nitrogen. The phase composition, microstructure, and properties of the novel refractories are deeply investigated. The cracking temperature on the core-shell structure of aluminum is further explored and the reaction mechanism of Zr 2 Al 3 c 4 has also added explanation. The results show that the novel refractories have excellent physical properties and cannot be corroded by molten iron. There exist two different Al 2 Oc solid solutions in the novel refractories, Al 2 Oc-rich (Al 2 Oc) 1- x (AlN) x and AlN-rich (Al 2 Oc) 1- x (AlN) x . The temperatures affect their relative content. When temperatures are less than 1600°c, the relative content of Al 2 Oc-rich (Al 2 Oc) 1- x (AlN) x is more than that of AlN-rich (Al 2 Oc) 1- x (AlN) x . When temperatures are above 1700°c, the relative content of AlN-rich (Al 2 Oc) 1- x (AlN) x is more than that of Al 2 Oc-rich (Al 2 Oc) 1- x (AlN) x . The core-shell structure of aluminum fully ruptures at about 1200°c. Zr 2 Al 3 c 4 begins to form at about 1000°c and generates in large at 1200°c.
The traditional materials are being replaced by nanocomposites due to the remarkable properties of the combination of alloy and ceramic nanoparticles. Due to the enhanced tribological properties of the composites, the...
详细信息
The traditional materials are being replaced by nanocomposites due to the remarkable properties of the combination of alloy and ceramic nanoparticles. Due to the enhanced tribological properties of the composites, these are applicable in industrial and automotive applications. The present work investigates the wear behaviour of Al7075 metal matrix composites (MMcs) reinforced with boron carbide ceramic nanoparticles. The MMcs are prepared by stir casting using a vacuum furnace. By varying the weight % of reinforcement, four different compositions were prepared. These composites were age-hardened at 465 °c for 2 hours. The sliding wear tests were performed using an advanced pin-on-disk tribometer to investigate the wear behaviour of composites considering the effects of applied load and sliding speed. The results of the sliding wear test and FESEM and microstructural graphs of as-cast and age-hardened composites were compared and analyzed. The microstructure of the composites became homogeneous and porosity was decreased after heat treatment. The hardness was increased with increasing wt.% of reinforcement. The hardness was observed to increase after aging. The wear rate was dependent on applied load, sliding speed, weight % of reinforcement, and microstructure. The wear resistance of composites was improved after aged hardening.
暂无评论