| 361. |
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| 362. |
- Ng, Bobby G., et al.
(författare)
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DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
- 2018
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Ingår i: JIMD Reports. - Berlin, Heidelberg : Springer Berlin Heidelberg. - 2192-8312 .- 2192-8304. ; 44, s. 85-92
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Bokkapitel (refereegranskat)abstract
- Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. We also present data on three affected females that are young adults and have a somewhat milder, stable disease. Our findings expand both the molecular and clinical knowledge of previously published data but also widen the phenotypic spectrum of DPAGT1-CDG.
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| 363. |
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| 364. |
- Peterziel, H, et al.
(författare)
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Drug sensitivity profiling of 3D tumor tissue cultures in the pediatric precision oncology program INFORM
- 2022
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Ingår i: NPJ precision oncology. - : Springer Science and Business Media LLC. - 2397-768X. ; 6:1, s. 94-
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Tidskriftsartikel (refereegranskat)abstract
- The international precision oncology program INFORM enrolls relapsed/refractory pediatric cancer patients for comprehensive molecular analysis. We report a two-year pilot study implementing ex vivo drug sensitivity profiling (DSP) using a library of 75–78 clinically relevant drugs. We included 132 viable tumor samples from 35 pediatric oncology centers in seven countries. DSP was conducted on multicellular fresh tumor tissue spheroid cultures in 384-well plates with an overall mean processing time of three weeks. In 89 cases (67%), sufficient viable tissue was received; 69 (78%) passed internal quality controls. The DSP results matched the identified molecular targets, including BRAF, ALK, MET, and TP53 status. Drug vulnerabilities were identified in 80% of cases lacking actionable (very) high-evidence molecular events, adding value to the molecular data. Striking parallels between clinical courses and the DSP results were observed in selected patients. Overall, DSP in clinical real-time is feasible in international multicenter precision oncology programs.
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| 365. |
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| 366. |
- Pieniowski, E, et al.
(författare)
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Early versus delayed surgery for acute cholecystitis as an applied treatment strategy when assessed in a population-based cohort
- 2014
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Ingår i: Digestive surgery. - : S. Karger AG. - 1421-9883 .- 0253-4886. ; 31:3, s. 169-176
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Tidskriftsartikel (refereegranskat)abstract
- <b><i>Background:</i></b> The aims of this study were to describe the surgical management of acute cholecystitis (AC) in a well-defined population-based patient cohort, in particular adherence to and outcome of the early open/laparoscopic cholecystectomy (EC/ELC) strategy. <b><i>Methods:</i></b> The medical records of all patients residing in Stockholm County who were treated for AC during 2003 and 2008 were reviewed according to a standardized protocol. <b><i>Results:</i></b> In 2003, 799 patients were admitted 850 times for AC, and the respective figures for 2008 were 833 and 919. The number of patients who underwent EC/ELC increased from 42.9% in 2003 to 47.4% in 2008. In multivariate regression analysis adjusting for age, gender, severity of cholecystitis, maximal CRP and maximal WBC, EC/ELC was associated with shorter operation time but higher perioperative blood loss when compared to delayed open/laparoscopic cholecystectomy (DC/DLC). The odds ratio for completing the procedure laparoscopically was significantly higher in DC/DLC when adjusting for the same covariates. There were no significant differences in peri- or postoperative complications between the groups. <b><i>Conclusion:</i></b> Strategies should be implemented in order to secure a more evidence-based approach to the surgical treatment of AC.
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| 367. |
- Popowicz, A, et al.
(författare)
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Cholecystostomy as Bridge to Surgery and as Definitive Treatment or Acute Cholecystectomy in Patients with Acute Cholecystitis
- 2016
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Ingår i: Gastroenterology research and practice. - : Hindawi Limited. - 1687-6121 .- 1687-630X. ; 2016, s. 3672416-
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Tidskriftsartikel (refereegranskat)abstract
- Purpose.Percutaneous cholecystostomy (PC) has increasingly been used as bridge to surgery as well as sole treatment for patients with acute cholecystitis (AC). The aim of the study was to assess the outcome after PC compared to acute cholecystectomy in patients with AC.Methods.A review of medical records was performed on all patients residing in Stockholm County treated for AC in the years 2003 and 2008.Results.In 2003 and 2008 altogether 799 and 833 patients were admitted for AC. The number of patients treated with PC was 21/799 (2.6%) in 2003 and 50/833 (6.0%) in 2008. The complication rate (Clavien-Dindo ≥ 2) was 4/71 (5.6%) after PC and 135/736 (18.3%) after acute cholecystectomy. Mean (standard deviation) hospital stay was 11.4 (10.5) days for patients treated with PC and 5.1 (4.3) days for patients undergoing acute cholecystectomy. After adjusting for age, gender, Charlson comorbidity index, and degree of cholecystitis, the hospital stay was significantly longer for patients treated with PC than for those undergoing acute cholecystectomy (P<0.001) but the risk for intervention-related complications was found to be significantly lower (P=0.001) in the PC group.Conclusion.PC can be performed with few serious complications, albeit with a longer hospital stay.
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| 368. |
- Stout, N L, et al.
(författare)
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A prospective surveillance model for rehabilitation for women with breast cancer
- 2012
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Ingår i: Cancer. - 1097-0142. ; 118:8, s. 2191-2200
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The current model of care for individuals with breast cancer focuses on treatment of the disease, followed by ongoing surveillance to detect recurrence. This approach lacks attention to patients' physical and functional well-being. Breast cancer treatment sequelae can lead to physical impairments and functional limitations. Common impairments include pain, fatigue, upper-extremity dysfunction, lymphedema, weakness, joint arthralgia, neuropathy, weight gain, cardiovascular effects, and osteoporosis. Evidence supports prospective surveillance for early identification and treatment as a means to prevent or mitigate many of these concerns. This article proposes a prospective surveillance model for physical rehabilitation and exercise that can be integrated with disease treatment to create a more comprehensive approach to survivorship health care. The goals of the model are to promote surveillance for common physical impairments and functional limitations associated with breast cancer treatment; to provide education to facilitate early identification of impairments; to introduce rehabilitation and exercise intervention when physical impairments are identified; and to promote and support physical activity and exercise behaviors through the trajectory of disease treatment and survivorship. METHODS: The model is the result of a multidisciplinary meeting of research and clinical experts in breast cancer survivorship and representatives of relevant professional and advocacy organizations. RESULTS/CONCLUSIONS: The proposed model identifies time points during breast cancer care for assessment of and education about physical impairments. Ultimately, implementation of the model may influence incidence and severity of breast cancer treatment-related physical impairments. As such, the model seeks to optimize function during and after treatment and positively influence a growing survivorship community.
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| 369. |
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| 370. |
- Tian, Hanqin, et al.
(författare)
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Global soil nitrous oxide emissions since the preindustrial era estimated by an ensemble of terrestrial biosphere models : Magnitude, attribution, and uncertainty
- 2019
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Ingår i: Global Change Biology. - : Wiley. - 1354-1013 .- 1365-2486. ; 25:2, s. 640-659
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Tidskriftsartikel (refereegranskat)abstract
- Our understanding and quantification of global soil nitrous oxide (N2O) emissions and the underlying processes remain largely uncertain. Here, we assessed the effects of multiple anthropogenic and natural factors, including nitrogen fertilizer (N) application, atmospheric N deposition, manure N application, land cover change, climate change, and rising atmospheric CO2 concentration, on global soil N2O emissions for the period 1861–2016 using a standard simulation protocol with seven process-based terrestrial biosphere models. Results suggest global soil N2O emissions have increased from 6.3 ± 1.1 Tg N2O-N/year in the preindustrial period (the 1860s) to 10.0 ± 2.0 Tg N2O-N/year in the recent decade (2007–2016). Cropland soil emissions increased from 0.3 Tg N2O-N/year to 3.3 Tg N2O-N/year over the same period, accounting for 82% of the total increase. Regionally, China, South Asia, and Southeast Asia underwent rapid increases in cropland N2O emissions since the 1970s. However, US cropland N2O emissions had been relatively flat in magnitude since the 1980s, and EU cropland N2O emissions appear to have decreased by 14%. Soil N2O emissions from predominantly natural ecosystems accounted for 67% of the global soil emissions in the recent decade but showed only a relatively small increase of 0.7 ± 0.5 Tg N2O-N/year (11%) since the 1860s. In the recent decade, N fertilizer application, N deposition, manure N application, and climate change contributed 54%, 26%, 15%, and 24%, respectively, to the total increase. Rising atmospheric CO2 concentration reduced soil N2O emissions by 10% through the enhanced plant N uptake, while land cover change played a minor role. Our estimation here does not account for indirect emissions from soils and the directed emissions from excreta of grazing livestock. To address uncertainties in estimating regional and global soil N2O emissions, this study recommends several critical strategies for improving the process-based simulations.
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