Dysregulation of the norepinephrine transporter sustains cortical hypodopaminergia and schizophrenia-like behaviors in neuronal rictor null mice. by Michael A Siuta, Sabrina D Robertson, Heidi Kocalis, Christine Saunders, Paul J Gresch, Vivek Khatri, Chiyo Shiota, J Philip Kennedy, Craig W Lindsley, Lynette C Daws, Daniel B Polley, Jeremy Veenstra-Vanderweele, Gregg D Stanwood, Mark A Magnuson, Kevin D Niswender, Aurelio Galli

“…The mammalian target of rapamycin (mTOR) complex 2 (mTORC2) is a multimeric signaling unit that phosphorylates protein kinase B/Akt following hormonal and growth factor stimulation. Defective Akt phosphorylation at the mTORC2-catalyzed Ser473 site has been linked to schizophrenia. …”
Get full text

Effect of stress ratio on the very high-cycle fatigue failure mechanism of TC4 titanium alloy by GAO Ning, LI Wei

“…The fracture of specimens under R = 0. 1 corresponds to two modes, i. e., surface failure induced by machining defects, and interior fisheye failure, accompanied by the appearance of facets. …”
Get full text

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families by Bin Mao, Xiaoling Cai, Na Lin, Yulin Jiang, Na Hao, Yifang Dai, Danhua Guo, Deqin He, Huili Xue, Lingji Chen, Qianqian He, Min Zhang, Meihuan Chen, Hailong Huang, Liangpu Xu

“…Abstract Background Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. …”
Get full text

Loss of the APP regulator RHBDL4 preserves memory in an Alzheimer’s disease mouse model by Ylauna Christine Mégane Penalva, Sandra Paschkowsky, Jingyun Yang, Sherilyn Junelle Recinto, Jessica K. Cinkornpumin, Marina Ruelas, Bin Xiao, Albert Nitu, Sin Young Kwon, Helen Yee-Li Wu, Hans Markus Munter, Bernadeta Michalski, Margaret Fahnestock, William A. Pastor, David A. Bennett, Lisa Marie Munter

“…Abstract Characteristic cerebral pathological changes of Alzheimer’s disease (AD) such as glucose hypometabolism or the accumulation of cleavage products of the amyloid precursor protein (APP), known as Aβ peptides, lead to sustained endoplasmic reticulum (ER) stress and neurodegeneration. …”
Get full text

The AcrAB efflux pump contributes to the virulence of Enteroaggregative E. coli by influencing the aggregative behavior by Martina Laudazzi, Emily Schifano, Francesca Sivori, Ludovica Altieri, Daniela Uccelletti, Enea G. Di Domenico, Bianca Colonna, Martina Pasqua, Gianni Prosseda

“…By using a specific inhibitor of AcrB, we confirmed the requirement of AcrB transporter activity for biofilm biogenesis. The characteristic aggregative pattern of EAEC is also strongly impaired in the absence of AcrB or in the presence of an efflux-defective AcrB D408A transporter, while it is restored in the ΔacrB strain complemented with acrB. …”
Get full text

Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype–Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson’s Disease by Mikhail Garbuz, Elena Ovchinnikova, Anna Ovchinnikova, Valeriya Vinokurova, Yulya Aristarkhova, Olga Kuziakova, Mariya Mashurova, Vadim Kumeiko

“…<b>Background/Objectives:</b> Wilson’s disease (WD) (OMIM 277900) or hepatolenticular degeneration is an autosomal recessive disorder caused by impaired copper excretion with subsequent accumulation in the liver, brain, and other tissues of the body. The defects in copper metabolism are based on various pathogenic variants of the ATP7B gene encoding copper-transporting P-type ATPase. …”
Get full text

Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China by Hou Qian, Weihua Zhao, Weifeng Li, Yike Wu, Xiuhua Lin, Jianlin Huang, Hong Zhang, Dayong Gu

“…It is necessary to strengthen the prevention and control measure of thalassemia in order to reduce birth defects and improve birth quality.…”
Get full text

DEVELOPMENT AND STUDY OF THE OPERATION OF THE MODULE FOR DETERMINING THE ORIENTATION OF THE MANIPULATOR JOINT by Igor Nevlyudov, Sergiy Novoselov, Oksana Sychova

“…To solve this problem, it is necessary not only to accurately estimate the speed of the manipulator nodes, but also to provide a linear characteristic of the assessment of the position of the mechanism in a wide range of speeds. …”
Get full text

Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case) by I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, S. I. Kutsev, R. A. Zinchenko

“…Peripheral visual field defects were revealed bilaterally. High visual acuity correlated with normal foveal structure on OCTs the retinal nerve fiber layer (RNFL) was thinner than normal in temporal half; deep excavation was visualized in both eyes. …”
Get full text

Chronic metabolic stress impairs lymphatic contractility via activation of KATP channels in a mouse model of Type-2 diabetes by Jorge A. Castorena-Gonzalez, Hae Jin Kim, Michael J. Davis

“…Lymphatic dysfunction, including valve defects, impaired contractile activity, and hyperpermeability, is also associated with these same diseases. …”
Get full text

Effect of hydrothermal aging on the physical, optical and mechanical properties of an experimental 3Y/4Y zirconia bilayer system by Manoela M. Marun, Tiago M.B. Campos, Larissa M.M. Alves, Edisa O. Sousa, Mateus Z. Galli, Ernesto B. Benalcazar-Jalkh, Laura F. Carvalho, Raphaelle S. Monteiro-Sousa, Edmara T.P. Bergamo, Sérgio M. Tebcherani, Petra Gierthmuehlen, Satoshi Yamaguchi, Gilmar Patrocinio Thim, Paulo G. Coelho, Estevam A. Bonfante

“…Aging increased the characteristic strength of all groups. Fractographic marks indicated the origin of fracture and direction of crack propagation from tensile side defects to the compression surface. …”
Get full text

Nijmegen breakage syndrome in pediatric practice (literature review and personal observation) by A.D. Hubanov, V.S. Konoplitskyi, V.V. Pohorilyi, O.V. Tykholaz, A.I. Sasiuk, Ye.Ye. Loiko, T.I. Mykhalchuk, Yu.A. Dymchyna, Yu.Ye. Korobko, O.V. Pasichnyk

“…Parents of children with this syndrome are heterozygous carriers of the mutation, and the risk of having an affected child is 25% if both parents are carriers of the defective gene. Chromosomal instability with characteristic rearrangements of peripheral T-lymphocytes in the form of inversions and translocations involving chromosomes 7 and 14, sensitivity of cells to ionizing radiation in vitro — all these are characteristic features of this disease that have important diagnostic value. …”
Get full text

Safety and efficacy of mycophenolate mofetil in treating neuromyelitis optica spectrum disorders: a protocol for systematic review and meta-analysis by Yang Chen, Ming Jin, Mengyu Han, Luqi Nong, Ziqiang Liu, You Chen, Huan Meng, Yali Qin, Zhijun Wang

“…Introduction Neuromyelitis optica spectrum disorders (NMOSD) is an inflammatory and heterogeneous astrocyte disorder of the central nervous system with the characteristic of higher incidence in women and Asian people. …”
Get full text

Lipidomics Unveils Critical Lipid Pathway Shifts in Alport Syndrome by Belen Requena, Amir Shabaka, Borja Lanzon, Sara Martinez, Isabel Galan Carrillo, Teresa Bada-Bosch, Angel Sevillano, Ana Maria Tato-Ribera, Coral Barbas, Gema Medina-Gomez, Carolina Gonzalez-Riano, Gema Fernandez-Juarez

“…Although genetic and structural aspects are known, mechanisms linking collagen IV defects to podocyte injury are unclear. Lipotoxicity and lipid dysregulation likely mediate podocyte damage in AS, similar to diabetic kidney disease (DKD). …”
Get full text

MICROFLORA OF THE ORAL CAVITY CHANGE DEPENDING UPON THE DURATION OF REMOVABLE DENTURES USE by T. Y. Divnych

“…Among these groups, the first group - the control group comprised 25 patients with partial dentition defects not previously made use of partial dentures. …”
Get full text

The Acidemia Index: A Near Real-Time Risk Analytics Algorithm is Associated With Measured Acidemia in Pediatric Critical Care Patients, a Multi-Center Validation Study by Ahmed Asfari, MD, Avihu Z. Gazit, MD, Craig Futterman, MD, Robert B. Kelly, MD, Andrew Macfadyen, MD, David S. Copper, MD, Joshua W. Salvin, MD, Adam Szadkowski, MD, Santiago Borasino, MD, Joshua Wolovits, MD, Hayden J. Zaccagni, MD

“…Acidemia frequently evolves in pediatric critical care patients, especially with congenital heart defects. Worsening acidemia secondary to inadequate systemic oxygen delivery can be detrimental to patients’ outcomes and the ability to predict it has the potential to prompt early interventions to improve the clinical state. …”
Get full text

Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for diagnosing 2-methylbutyrylglycinuria by Hao Liu, Ming Xu, Min Chen, Yong Peng, Liang Ye, Yi-fan Yin, Jing-kun Miao

“…Abstract Background The congenital disease 2-methylbutyrylglycinuria involves defective isoleucine metabolism and is currently diagnosed based on elevated levels of 2-methylbutyrylcarnitine/isovalerylcarnitine C5 in blood, followed by analysis of 2-methylbutyrylglycine (2-MBG) in urine at an early stage. …”
Get full text

Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 ‐Related Disorders: Clinical Experience and Literature Review by Aoran Maheshati, Kexin Xu, Ziquan Li, Guozhuang Li, Xiangjie Yin, Qing Li, Di Liu, Shengru Wang, Zhihong Wu, Guixing Qiu, Baozhong Zhang, Terry Jianguo Zhang, Yu Wang, Nan Wu

“…Patient 1 presented with severe kyphoscoliosis and segmentation defects and received a pedicle subtraction osteotomy with short fusion and dual growing rods from T3 to L3. …”
Get full text

ODONTALGIA IN MAXILLOFACIAL REGION by A.K. Nikolishin, O.V. Rybalov, I.A. Korolenko

“…They can be caused by defects in the treatment and restoration of teeth, inflammatory and traumatic processes in the maxillofacial region, and others. …”
Get full text

Early peripapillary neurovascular injury and its relevant systemic factors in type 2 diabetic patients without retinopathy: An OCTA based study by Haochen Jin, Kaiyue Wang, Changhong Ren, Shan He, Yuan Gao, Xiaofang Liang, Xuxiang Zhang

“…Receiver operating characteristic curve analysis showed that the composite index of the RPC density and p-RNFL thickness was generally superior to those of each single indicator in differentiating NDR patients from controls (the highest AUC = 0.745, P < 0.001). …”
Get full text