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#36484953   2022/12/09 To Up

New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.

This study investigated the new splice site mutations of Myosin VIIA (MYO7A) in patients with Usher syndrome type 1 (USH1) from a three-generation Chinese consanguineous family.
Qinghong Lin, Dong Yang, Zhengwei Shen, Xingtao Zhou

1869 related Products with: New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.

100ul100ug96T100 μg100 2 Pieces/Box1 mL

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#36484864   2022/12/09 To Up

ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.

The aim of this research is to study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with ATP1A3 (Na/K-ATPase alpha 3 gene)-related disorders in Southwest China. Patients with pathogenic ATP1A3 variants identified using next-generation sequencing were registered at the Children's Hospital of Chongqing Medical University from December 2015 to May 2019. We followed them as a cohort and analyzed their clinical data. Eleven patients were identified with de novo pathogenic ATP1A3 heterozygous variants. One (c.2542 + 1G > T, splicing) has not been reported. Eight patients with alternating hemiplegia of childhood (AHC), one with cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), and two with relapsing encephalopathy with cerebellar ataxia (RECA) were included. The initial manifestations of AHC included hemiplegia, oculomotor abnormalities, and seizures, and the most common trigger was an upper respiratory tract infection without fever. All patients had paroxysmal hemiplegic attacks during their disease course. The brain MRI showed no abnormalities. Six out of eight AHC cases reached a stable disease state after treatment. The initial symptom of the patient with CAPOS was ataxia followed by developmental regression, seizures, deafness, visual impairment, and dysarthria, and the brain MRI indicated mild cerebellar atrophy. No fluctuation was noted after using Acetazolamide. The initial manifestations of the two RECA cases were dystonia and encephalopathy, respectively. One manifested a rapid-onset course of dystonia triggered by a fever followed by dysarthria and action tremors, and independent walking was impossible. The brain MRI image was normal. The other one presented with disturbance of consciousness, seizures, sleep disturbance, tremor, and dyskinesias. The EEG revealed a slow background (δ activity), and the brain MRI result was normal. No response to Flunarizine was noted for them, and it took 61 and 60 months for them to reach a stable disease state, respectively.
Dishu Huang, Xiaojie Song, Jiannan Ma, Xiujuan Li, Yi Guo, Mei Li, Hanyu Luo, Zhixu Fang, Chen Yang, Lingling Xie, Li Jiang

1106 related Products with: ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.

2 Pieces/Box2 Pieces/Box2 Pieces/Box2 Pieces/Box2 Pieces/Box100 μg 5 G1 Set100 μg1 mg2ug900 tests

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#36484863   2022/12/09 To Up

Cardiac MRI in midterm follow-up of MISC: a multicenter study.

In this multicenter retrospective study we aimed to evaluate the outcome of cardiac involvement in children affected by multisystem inflammatory syndrome (MIS-C), assessed through cardiac magnetic resonance (CMR). Children referring to three Italian tertiary pediatric centers between February 2020 and November 2021 with a diagnosis of MIS-C, who underwent CMR during a follow-up visit, were enrolled. Demographic, clinical, laboratory, treatment, and outcome data were collected. Twenty MIS-C patients (aged 9-17, median 12 years) were included in the study. Heart involvement at onset was testified by hypotension/shock (55%), laboratory evidence of myocardial involvement (100%), reduced LV ejection fraction (EF) on echocardiography (83%), and/or need for inotrope agents (40%); they all presented good clinical, laboratory, and echocardiographic response to treatment. CMR was performed after a median interval of 3 months from discharge. Pericardial effusion and myocardial edema were found in 5% of patients. Mild residual left ventricular (LV) dysfunction was found in 20% of patients, all showing normal echocardiographic LVEF at discharge. Minimal myocardial scars were found in 25% by late gadolinium enhancement (LGE). One patient was evaluated at two consecutive time points, showing partial resolution of a myocardial scar after 7 months from its first finding.
Simone Benvenuto, Gabriele Simonini, Sara Della Paolera, Sarah Abu Rumeileh, Maria Vincenza Mastrolia, Alessandra Manerba, Daniela Chicco, Manuel Belgrano, Thomas Caiffa, Marco Cattalini, Andrea Taddio

1669 related Products with: Cardiac MRI in midterm follow-up of MISC: a multicenter study.

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#36484597   2022/12/09 To Up

Two new degrade triterpenoids from Levl.

Two new degrade cycloartane triterpenoids, named buboditones A, B (, ), together with ten known alkaloids, cyclobuxoviridine (), -dimethylcycloxobuxovircine (), cyclovirobuxine C (), cyclovirobuxine A (), cycloprotobuxine C (), cycloprotobuxine A (), cyclobuxoxazine (), cyclobuxoxazine A (), buxruguline B (), irehine (), were isolated from the leaves and stems of Levl., The structures of compounds were elucidated by 1 D and 2 D NMR spectroscopic methods including HSQC, HMBC, H-H COSY, NOESY, as well as HRESIMS spectroscopic analysis.
Yu-Xin Yan, Na-Li Song, Ji-Hong Zhang, Ming-Hua Qiu

2929 related Products with: Two new degrade triterpenoids from Levl.

1 kit(s) 25500 ml100 ml500 ml1 mg100 ml200

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#36484522   2022/12/09 To Up

Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation.

The purpose of this study is to describe neurosonographic findings diagnostic or highly suggestive of abnormal fetal cortical development, which may be identified before 24 weeks of pregnancy.
K Krajden Haratz, R Birnbaum, D Kidron, J Har-Toov, Y Selemnick, M Brusilov, G Malinger

1029 related Products with: Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation.

25 mg 5 G2.5 mg100 µg100 mg50 mg 25 G25 g 5 G 5 G

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#36484381   2022/12/09 To Up

Texture formation in W-type hexaferrite by cold compaction of non-magnetic interacting anisotropic shaped precursor crystallites.

Crystallites of the W-type hexaferrites, Sr(NiZn)FeO ( = 0, 0.5, 1) have been aligned without applying magnetic field nor hot compaction, but through a simple synthesis process taking advantage of easy alignment of non-magnetic interacting, anisotropic-shaped precursor crystallites of goethite. The goethite precursor was prepared through a simple hydrothermal synthesis route, forming lathlike crystallites with apparent dimensions of 23.3 × 40.1 × 11.0 nm as extracted from powder X-ray diffraction along the -, - and -axis, respectively. The calcined pellets consisted of almost phase pure W-type hexaferrites with relative small impurities of spinel ferrite (≤9.02(3) wt%). The high synthesis temperature resulted in large crystallites, which in turn caused low coercivities ( ≤ 5.4(1) kA m) and a squareness ration (/, remanence () over saturation magnetisation ()) close to zero for all samples. The vanishing coercivity makes / an unsatisfying measure of preferred orientation. Quantitative texture analysis of the samples was carried out based on 2D transmission synchrotron diffraction data collected at different orientations of the samples. The texture investigations revealed alignment of the crystallites with the -axis normal to the pressing surface of the pellets. The SrNiFeO sample showed the highest texture index of 7.5 m.r.d..
Cecilie G Knudsen, Mathias I Mørch, Mogens Christensen

2516 related Products with: Texture formation in W-type hexaferrite by cold compaction of non-magnetic interacting anisotropic shaped precursor crystallites.

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#36484375   2022/12/09 To Up

Analysis of mutational history of multi-drug resistant genotypes with a mutagenetic tree model.

Human immunodeficiency virus (HIV) can develop resistance to all antiretroviral drugs. Multi-drug resistance however is a rare event in modern HIV treatment, but can be life-threatening, particular in patients with very long therapy histories and in areas with limited access to novel drugs. To understand the evolution of multi-drug resistance, we analyzed the EuResist database to uncover the accumulation of mutations over time. We hypothesize that accumulation of resistance mutations is not acquired simultaneously and randomly across viral genotypes but rather tends to follow a predetermined order. The knowledge of this order might help to elucidate potential mechanisms of multi-drug resistance. Our evolutionary model shows an almost monotonic increase of resistance with each acquired mutation, including less well known NRTI-related mutations like K223Q, L228H and Q242H. Mutations within the integrase (IN) (T97A, E138A/K G140S, Q148H, N155H) indicate high probability of multi-drug resistance. Hence, these IN mutations also tend to be observed together with mutations in the protease (PR) and reverse transcriptase (RT). We followed up with an analysis of the mutation-specific error rates of our model given the data. We identified several mutations with unusual rates (PR: M41L, L33F, IN: G140S). This could imply the existence of previously unknown virus variants in the viral quasispecies. In conclusion, our bioinformatics model supports the analysis and understanding of multi-drug resistance. This article is protected by copyright. All rights reserved.
Martin Pirkl, Joachim Büch, Carole Devaux, Michael Böhm, Anders Sönnerborg, Francesca Incardona, Ana Abecasis, Anne-Mieke Vandamme, Maurizio Zazzi, Rolf Kaiser, Thomas Lengauer, The EuResist Network Study Group

1563 related Products with: Analysis of mutational history of multi-drug resistant genotypes with a mutagenetic tree model.

15 ml 100 assays1 module100 µg1 module1 module1 module1 module

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#36484331   2022/12/09 To Up

Meta-analysis of blood parameters related to lipid and glucose metabolism between two subtypes of primary aldosteronism.

It remains unclear whether metabolic profiles differ within the subtypes of primary aldosteronism (PA). This meta-analysis aimed to compare the blood parameters related to lipid and glucose metabolism at baseline between unilateral PA and bilateral PA. A search was performed using PubMed, Web of Science, and Sciencedirect databases, supplemented by hand-searching of related references. Standardized mean differences (SMDs) with 95% confidence intervals (CIs) were calculated for each parameter. Twenty-one studies involving 4197 patients with PA were included. Compared with bilateral PA groups, unilateral PA groups demonstrated significantly lower low-density lipoprotein cholesterol (LDL-C, SMD: -.14 mmol/L, 95% CI: -.20, -.07), total cholesterol (TC, SMD: -.16 mmol/L, 95% CI: -.23, -.09), triglyceride (TG, SMD: -.22 mmol/L, 95% CI: -.29, -.16), fasting blood glucose (FBG, SMD: -.11 mmol/L, 95% CI: -.18, -.04), hemoglobin A1c (HbA1c, SMD: -.21%, 95% CI: -.30, -.13), and homeostasis model assessment-insulin resistance (HOMA-IR, SMD: -.40, 95% CI: -.58, -.23). No significant difference was found in high-density lipoprotein cholesterol (HDL-C) level between the two groups (SMD: .40 mmol/L, 95% CI: -.02, .11). To sum up, comparison of several blood metabolic parameters between the two subtypes suggested that the bilateral PA may associate with a higher prevalence of impaired glucose and lipid metabolism than unilateral PA; however, results should be treated with caution. Additional well-designed studies are needed to prove the present results and better elucidate the link between metabolic abnormalities and etiologies of each PA subtype.
Qiu-Gen Zhu, Feng Zhu

2667 related Products with: Meta-analysis of blood parameters related to lipid and glucose metabolism between two subtypes of primary aldosteronism.

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#36484329   2022/12/09 To Up

Prevalence of adsorbed A antigen onto donor-derived group O red cells in children following stem cell transplantation: A single-centre evaluation.

A group AB D-positive child presented 1 year after haematopoietic stem cell transplant (HSCT) from a group O D-negative donor as group A D-negative. Engraftment remained at 100% in white cell lineages. The reason for the unusual result was explored, and the scarcely reported phenomenon of adsorption of secreted antigen was considered. This study also investigated the prevalence of secreted antigen adsorbed onto donor-derived group O red blood cells (RBCs) in children after HSCT and defined a process for laboratory management.
Kelly Cripps, Khushnuma Mullanfiroze, Annette Hill, Rachel Moss, Susanne Kricke

2659 related Products with: Prevalence of adsorbed A antigen onto donor-derived group O red cells in children following stem cell transplantation: A single-centre evaluation.

25 ml.1.00 flask1 kit1 mg100 µg0.1ml (1mg/ml)100 ug/vial1 kit100 µg

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#36484318   2022/12/09 To Up

Grain boundary sliding and distortion on a nanosecond timescale induce trap states in CsPbBr: investigation with machine learning force field.

Grain boundaries (GBs) in perovskite solar cells and optoelectronic devices are widely regarded as detrimental defects that accelerate charge and energy losses through nonradiative carrier trapping and recombination, but the mechanism is still under debate owing to the diversity of GB configurations and behaviors. We combine electronic structure and machine learning force field to investigate evolution of the geometric and electronic structure of a CsPbBr GB on a nanosecond timescale, which is comparable with the carrier recombination time. We demonstrate that the GB slides spontaneously within a few picoseconds increasing the band gap. Subsequent structural oscillations dynamically produce midgap trap states through Pb-Pb interactions across the GB. After several hundred picoseconds, structural distortions start to occur, increasing the occurrence of deep midgap states. We identify a distinct correlation of the average Pb-Pb distance and fluctuations in the ion coordination numbers with the appearance of the midgap states. Suppressing GB distortions through annealing and breaking up Pb-Pb dimers by passivation can efficiently alleviate the detrimental effects of GBs in perovskites. The study provides new insights into passivation of the detrimental GB defects, and demonstrates that structural and charge carrier dynamics in perovskites are intimately coupled.
Dongyu Liu, Yifan Wu, Andrey S Vasenko, Oleg V Prezhdo

1001 related Products with: Grain boundary sliding and distortion on a nanosecond timescale induce trap states in CsPbBr: investigation with machine learning force field.

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