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排序方式: 共有49条查询结果,搜索用时 15 毫秒
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Keivan Basiri Katsiaryna Belaya Wei Wei Liu Susan Maxwell Maryam Sedghi David Beeson 《Neuromuscular disorders : NMD》2013,23(6):469-472
Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder – congenital disorder of glycosylation type 1J. However, recently it was established that certain mutations in this gene can cause symptoms restricted to muscle weakness resulting from defective neuromuscular transmission. We report four cases from a large Iranian pedigree with prominent limb-girdle weakness and minimal craniobulbar symptoms who harbour a novel mutation in DPAGT1, c.652C>T, p.Arg218Trp. This myasthenic syndrome may mimic myopathic disorders and is likely under-diagnosed. 相似文献
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Kirill Marakhouski Elena Sharafanovich Uladzislau Kolbik Aleh Sautin Katsiaryna Nikalayeva Aleh Pataleta Kiryl Sanfirau Aliaksandr Svirsky 《World journal of gastrointestinal endoscopy》2021,13(3):90-96
BACKGROUNDBlue rubber bleb nevus syndrome (BRBNS) is a rare vascular disease, difficult to diagnose and choose a treatment method, especially in young children. There are several limiting factors to the use of enteroscopy for diagnostics and treatment in pediatric patients, in general. The literature on BRBNS cases is limited and presents various therapeutic approaches.CASE SUMMARYWe present here a case of BRBNS involving a 4-year-old female, whose intestinal venous lesions were successfully treated by endoscopic sclerotherapy and aethoxysklerol foam. Skin lesions, typical for BRBNS, appeared on the 8th d of the child’s life and their number increased over the next several months. The child also experienced episodes of critical decrease in hemoglobin level (by as much as 52 g/L) for several years, requiring iron supplementation and several blood transfusions. Video capsule endoscopy revealed numerous vascular formations in the small bowel. The combined findings of gastrointestinal venous formations and skin lesions prompted BRBNS diagnosis. Single-balloon enteroscopy was used to perform sclerotherapy, with aethoxysklerol foam. A positive effect was observed within 19 mo of follow-up. We continue to monitor the patient’s hemoglobin level, every 2 wk, and it has remained satisfactory (> 120 g/L).CONCLUSIONEndoscopic sclerotherapy can be effective in the clinical management of gastrointestinal manifestations of BRBNS in young children. 相似文献
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Katsiaryna S. Burts Tatiana V. Plisko Mikael Sjlin Goncalo Rodrigues Alexandr V. Bildyukevich Frank Lipnizki Mathias Ulbricht 《Materials》2022,15(1)
This study deals with the development of antifouling ultrafiltration membranes based on polysulfone (PSF) for wastewater treatment and the concentration and purification of hemicellulose and lignin in the pulp and paper industry. The efficient simple and reproducible technique of PSF membrane modification to increase antifouling performance by simultaneous addition of triblock copolymer polyethylene glycol-polypropylene glycol-polyethylene glycol (Synperonic F108, Mn =14 × 103 g mol−1) to the casting solution and addition of polyacrylic acid (PAA, Mn = 250 × 103 g mol−1) to the coagulation bath is proposed for the first time. The effect of the PAA concentration in the aqueous solution on the PSF/Synperonic F108 membrane structure, surface characteristics, performance, and antifouling stability was investigated. PAA concentrations were varied from 0.35 to 2.0 wt.%. Membrane composition, structure, and topology were investigated by Fourier-transform infrared spectroscopy (FTIR), X-ray photoelectron spectroscopy (XPS), atomic force microscopy (AFM), and scanning electron microscopy (SEM). The addition of PAA into the coagulation bath was revealed to cause the formation of a thicker and denser selective layer with decreasing its pore size and porosity; according to the structural characterization, an interpolymer complex of the two additives was formed on the surface of the PSF membrane. Hydrophilicity of the membrane selective layer surface was shown to increase significantly. The selective layer surface charge was found to become more negative in comparison to the reference membrane. It was shown that PSF/Synperonic F108/PAA membranes are characterized by better antifouling performance in ultrafiltration of humic acid solution and thermomechanical pulp mill (ThMP) process water. Membrane modification with PAA results in higher ThMP process water flux, fouling recovery ratio, and hemicellulose and total lignin rejection compared to the reference PSF/Synperonic F108 membrane. This suggests the possibility of applying the developed membranes for hemicellulose concentration and purification. 相似文献
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L A Kalashnikova E L Nasonov V V Borisenko V B Usman L Z Prudnikova V U Kovaljov A F Kushekbaeva 《Clinical and experimental rheumatology》1991,9(4):357-361
Forty-one patients (31 women, 10 men) aged 15-56 (mean age, 38) with Sneddon's syndrome characterised by cerebrovascular disease and widespread livedo reticularis in the absence of typical lupus features were studied. 16 patients (39%) had clinical and/or electrocardiographic signs of ischemic heart disease, with 2 of them having survived myocardial infarction. Cardiac murmurs (usually mitral systolic) were heard in 15 patients (37%). Echocardiography revealed mitral valve thickening in 13 of 32 tested patients (41%). Anticardiolipin antibodies were found in 22 patients (54%) and lupus anticoagulant in 25 of 38 tested patients (66%). In 6 patients (15%) neither anticardiolipin antibodies nor lupus anticoagulant were observed. Anticardiolipin antibodies were more often present in patients with ischemic heart disease (12 of 16), than in those without (10 of 25) (p less than 0.05). Mitral valve thickening was revealed more often in patients with antiphospholipid antibodies (12 of 26 patients) than in those without (1 of 6); however, a statistically significant difference was not observed. 相似文献
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What Keeps Oncologists From Addressing Palliative Care Early on With Incurable Cancer Patients? An Active Stance Seems Key
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Timo A. Pfeil Katsiaryna Laryionava Stella Reiter‐Theil Wolfgang Hiddemann Eva C. Winkler 《The oncologist》2015,20(1):56-61
Background.
Sympathetic and frank communication about the terminal nature of advanced cancer is important to improve patients’ prognostic understanding and, thereby, to allow for adjustment of treatment intensity to realistic goals; however, decisions against aggressive treatments are often made only when death is imminent. This qualitative study explores the factors that hinder such communication and reconstructs how physicians and nurses in oncology perceive their roles in preparing patients for end-of-life (EOL) decisions.Methods.
Qualitative in-depth interviews were conducted with physicians (n = 12) and nurses (n = 6) working at the Department of Hematology/Oncology at the university hospital in Munich, Germany. The data were analyzed using grounded theory methodology and discussed from a medical ethics perspective.Results.
Oncologists reported patients with unrealistic expectations to be a challenge for EOL communication that is especially prominent in comprehensive cancer centers. Oncologists responded to this challenge quite differently by either proactively trying to facilitate advanced care planning or passively leaving the initiative to address preferences for care at the EOL to the patient. A major impediment to the proactive approach was uncertainty about the right timing for EOL discussions and about the balancing the medical evidence against the physician’s own subjective emotional involvement and the patient’s wishes.Conclusion.
These findings provide explanations of why EOL communication is often started rather late with cancer patients. For ethical reasons, a proactive stance should be promoted, and oncologists should take on the task of preparing patients for their last phase of life. To do this, more concrete guidance on when to initiate EOL communication is necessary to improve the quality of decision making for advanced cancer patients. 相似文献10.
Diez-Domingo J Patrzalek M Cantarutti L Arnould B Meunier J Soriano-Gabarro M Meyer N Pirçon JY Holl K 《BMC pediatrics》2012,12(1):58
ABSTRACT: BACKGROUND: Rotavirus (RV) is the commonest cause of acute gastroenteritis in infants and young children worldwide. A Quality of Life study was conducted in primary care in three European countries as part of a larger epidemiological study (SPRIK) to investigate the impact of paediatric rotavirus gastroenteritis (RVGE) on affected children and their parents. METHODS: A self-administered questionnaire was linguistically validated in Spanish, Italian and Polish. The questionnaire was included in an observational multicentre prospective study of 302 children aged <5 years presenting to a general practitioner or paediatrician for RVGE at centres in Spain, Italy or Poland. RV infection was confirmed by polymerase chain reaction (PCR) testing (n = 264). The questionnaire was validated and used to assess the emotional impact of paediatric RVGE on the parents. RESULTS: Questionnaire responses showed that acute RVGE in a child adversely affects the parents' daily life as well as the child. Parents of children with RVGE experience worry, distress and impact on their daily activities. RVGE of greater clinical severity (assessed by the Vesikari scale) was associated with higher parental worries due to symptoms and greater changes in the child's behaviour, and a trend to higher impact on parents' daily activities and higher parental distress, together with a higher score on the symptom severity scale of the questionnaire. CONCLUSIONS: Parents of a child with acute RVGE presenting to primary care experience worry, distress and disruptions to daily life as a result of the child's illness. Prevention of this disease through prophylactic vaccination will improve the daily lives of parents and children. 相似文献