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31.
Despite significant improvements in our understanding of the pathophysiology of Diamond Blackfan anemia (DBA), there have been few advances in therapy. The cornerstones of treatment remain corticosteroids, chronic red blood cell transfusions, and hematopoietic stem cell transplantation, each of which is fraught with complications. In this article, we will review the history of therapies that have been offered to patients with DBA, summarize the current standard of care, including management of side effects, and discuss novel therapeutics that are being developed in the context of the research into the roles of ribosomal haplo-insufficiency and p53 activation in Diamond Blackfan anemia. 相似文献
32.
Gray K Jenkins AC Heberlein AS Wegner DM 《Proceedings of the National Academy of Sciences of the United States of America》2011,108(2):477-479
It has long been known that psychopathology can influence social perception, but a 2D framework of mind perception provides the opportunity for an integrative understanding of some disorders. We examined the covariation of mind perception with three subclinical syndromes--autism-spectrum disorder, schizotypy, and psychopathy--and found that each presents a unique mind-perception profile. Autism-spectrum disorder involves reduced perception of agency in adult humans. Schizotypy involves increased perception of both agency and experience in entities generally thought to lack minds. Psychopathy involves reduced perception of experience in adult humans, children, and animals. Disorders are differentially linked with the over- or underperception of agency and experience in a way that helps explain their real-world consequences. 相似文献
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34.
This study aimed to identify the causes and contributing factors, neurologic presentation, and outcomes of central pontine and extrapontine myelinolysis and to examine any trends in the presentation and course of these disorders over the past 50 years. Seventy-six pediatric cases were identified in the literature. Age, sex, decade of diagnosis, neurologic presentation, outcome, and attributed causes were extracted. The results showed that the diagnosis, course, and outcomes of central pontine and extrapontine myelinolysis clearly have changed over the past few decades. Early cases generally were diagnosed at autopsy as opposed to computed tomography or magnetic resonance imaging more recently. Ninety-four percent of cases prior to 1990 and only 7% of cases from 1990 onward resulted in patient mortality. The decade in which the case was reported was the strongest predictor of outcome (P < .001), followed by sodium dysregulation (P = .045) and dehydration (P = .07). 相似文献
35.
36.
Twelve pediatric liver (n = 7), liver-kidney (n = 1), and small bowel (n = 4) transplant recipients, median age 6.5 years (1-21), who received rabbit anti-human thymocyte globulin (rATG) and steroid-free tacrolimus/sirolimus, were screened for the presence of CD8+CD28- T suppressor cells. Four control liver transplant recipients, median age 15 years (5-20), in whom conventional immunosuppression without rATG was successfully discontinued for at least 1 year, were also screened as a reference population. Median time to CD8+CD28- T-suppressor cells analysis was 16 months (2-24) in rATG subjects and 168 months (16-228) in no-immunosuppression subjects. Nine of 16 patients demonstrated the presence of CD8+CD28- T-suppressor cells in the circulation, whereas seven patients did not. CD8+CD28- T-suppressor cells were present in 4/4 children with no immunosuppression, and absent from three of four subjects with acute cellular rejection, all of whom experienced more than one acute cellular rejection episode. In the reduced immunosuppression group (n = 8), four children demonstrated presence of CD8+CD28- T-suppressor cells in the circulation and four did not. The presence of donor-specific T-suppressor cells in the circulation may characterize transplant recipients, in whom graft function can be maintained with minimal or no immunosuppression. Such assays may also permit safe evaluation of prospective immunosuppression withdrawal strategies. 相似文献
37.
Vlachos A Ball S Dahl N Alter BP Sheth S Ramenghi U Meerpohl J Karlsson S Liu JM Leblanc T Paley C Kang EM Leder EJ Atsidaftos E Shimamura A Bessler M Glader B Lipton JM;Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference 《British journal of haematology》2008,142(6):859-876
Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes because of the lack of complete information on the natural history of the disease. The purpose of this document is to review the criteria for diagnosis, evaluate the available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and propose a plan for optimizing patient care. Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are also reviewed. Evidence-based conclusions will be made when possible; however, as in many rare diseases, the data are often anecdotal and the recommendations are based upon the best judgment of experienced clinicians. The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference. 相似文献
38.
Agnieszka Lejk Jdrzej Chrzanowski Adrianna Cielak Wojciech Fendler Magorzata Myliwiec 《Nutrients》2021,13(11)
Unhealthy eating habits are associated with obesity, metabolic syndrome, and increased insulin resistance in young patients with type 1 diabetes mellitus (T1DM), and may impact the possible benefit from dietary interventions on glycaemic control. This study determines how nutritional patterns influence the quality of dietary intervention with a 30% or 50% carbohydrate diet in terms of glycaemic control measured with continuous glucose monitoring (CGM). Eating habits were obtained with a frequency-of-consumption questionnaire (FFQ-6) before the diet assessment. Altogether, we collected CGM and FFQ-6 data from 30 children (16 boys and 14 girls aged 10–17 years) with T1DM subjected to two consecutive 3-day nutritional plans. From these, 23 patients met the CGM data quality criteria for further analysis. Furthermore, high accuracy achieved in training (95.65%) and V-fold cross-validation (81.67%) suggest a significant impact of food habits in response to introduced nutritional changes. Patients who consumed more vegetables or grains (>4 times per day), more wheat products (>once per day), fewer fats (<1.5 times per day), and ranked fruit juice as the most common selection in the drinks category achieved glycaemic control more often after the introduction of a 30% carbohydrate diet, as opposed to those with different dietary patterns, whose glycaemic control was negatively impacted after switching to this diet. Additionally, the 50% carbohydrate diet was safe for all patients in the context of glycaemic control. 相似文献
39.
Joanna Srescek-Nazzal Adrianna Kamiska Piotr Midlicki Agnieszka Wrblewska Karolina Kiebasa Rafa Jan Wrbel Jarosaw Serafin Beata Michalkiewicz 《Materials》2021,14(24)
DT0-activated carbons modified with HCl and HNO3 acids, which were used for the first time in the catalytic process of alpha-pinene isomerization, are presented in this study. The carbon materials DT0, DT0_HCl, DT0_HNO3, and DT0_HCl_HNO3 were examined with the following methods: XRF, SEM, EDX, XPS, FT-IR, XRD, and N2 adsorption at −196 °C. It was shown that DT0_HCl_HNO3-activated carbon was the most active material in the alpha-pinene isomerization process. Detailed studies of alpha-pinene isomerization were carried out over this carbon by changing the reaction parameters such as time (5–180 min) and temperature (60–175 °C). The 100% conversion of alpha-pinene was achieved at the temperature of 160 °C and catalyst content of 5 wt% after 3 h over the DT0_HCl_HNO3 catalyst. Camphene and limonene were the main products of the alpha-pinene isomerization reaction. 相似文献
40.
Samantha Cote Russell Butler Vincent Michaud Eric Lavallee Etienne Croteau Adrianna Mendrek JeanFrancois Lepage Kevin Whittingstall 《Human brain mapping》2021,42(17):5677
Sex hormones estrogen (EST) and progesterone (PROG) have received increased attention for their important physiological action outside of reproduction. While studies have shown that EST and PROG have significant impacts on brain function, their impact on the cerebrovascular system in humans remains largely unknown. To address this, we used a multi‐modal magnetic resonance imaging (MRI) approach to investigate the link between serum hormones in the follicular phase and luteal phase of the menstrual cycle (MC) with measures of cerebrovascular function (cerebral blood flow [CBF]) and structure (intracranial artery diameter). Fourteen naturally cycling women were recruited and assessed at two‐time points of their MC. CBF was derived from pseudo‐continuous arterial spin labeling while diameters of the internal carotid and basilar artery was assessed using time of flight magnetic resonance angiography, blood samples were performed after the MRI. Results show that PROG and EST had opposing and spatially distinct effects on CBF: PROG correlated negatively with CBF in anterior brain regions (r = −.86, p < .01), while EST correlations were positive, yet weak and most prominent in posterior areas (r = .78, p < .01). No significant correlations between either hormone or intracranial artery diameter were observed. These results show that EST and PROG have opposing and regionally distinct effects on CBF and that this relationship is likely not due to interactions with large intracranial arteries. Considering that CBF in healthy women appears tightly linked to their current hormonal state, future studies should consider assessing MC‐related hormone fluctuations in the design of functional MRI studies in this population. 相似文献