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901.
Chronic ocular GVHD: limbal and conjunctival stem cell allografts from the same hematopoietic stem cell donor 下载免费PDF全文
AIM: To investigate common polymorphisms in VEGF, ACE, TNF and GST genes with retinopathy of prematurity (ROP) risk among Chinese infants.
METHODS: Nine polymorphisms in the above genes were genotyped on 724 advanced cases of ROP and 878 prematurely-born infants of low birth weight who were without any ophthalmologic disease. The frequencies of the polymorphisms were compared between cases and controls to identify the association present, if any.
RESULTS: Of the nine polymorphisms, only two showed significant associations: ACE ID polymorphism (P=0.031) and TNF -308G/A polymorphism (P<0.001). The former was associated with a reduced ROP risk (ID genotype, adjusted OR (aOR): 0.603, 95%CI: 0.427-0.893, P=0.034; DD genotype, aOR: 0.468, 95%CI: 0.229-0.626, P=0.002), while the latter showed an increased risk (GA genotype, aOR: 1.956, 95%CI: 1.396-2.465, P<0.001; AA genotype, aOR: 2.809, 95%CI: 1.802-4.484, P<0.001). The association was also noted at the allele level (ACE D allele aOR: 0.698, 95%CI: 0.294-0.883, P<0.001; TNF -308A allele aOR: 1.776, 95%CI: 1.446-2.561, P<0.001).
CONCLUSION: The ACE ID polymorphism can protect against ROP development while the TNF -308G/A can increase the risk of the disease among Chinese infants. 相似文献
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906.
Leon Peifer-Weiß Mazen Kurban Céline David Melissa Lubeck Arun Kumar Kondadi Georges Nemer Andreas S. Reichert Ruchika Anand 《Clinical genetics》2023,104(6):659-668
APOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two patients. Both patients developed partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies. The patients died at an early age of 12 or 18 months. Exome sequencing revealed a mutation (NM_024122.5): c.532G>T (p.E178*) in the APOO/MIC26 gene that causes a nonsense mutation leading to the loss of 20 C-terminal amino acids. This mutation resulted in a highly unstable and degradation prone MIC26 protein, yet the remaining minute amounts of mutant MIC26 correctly localized to mitochondria and interacted physically with other MICOS subunits. MIC26 KO cells expressing MIC26 harboring the respective APOO/MIC26 mutation showed mitochondria with perturbed cristae architecture and fragmented morphology resembling MIC26 KO cells. We conclude that the novel mutation found in the APOO/MIC26 gene is a loss-of-function mutation impairing mitochondrial morphology and cristae morphogenesis. 相似文献
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Marcelo Kugelmas Mazen Noureddin Nadege Gunn Kimberly Brown Zobair Younossi Manal Abdelmalek Naim Alkhouri 《Liver international》2023,43(5):964-974
There is ongoing recognition of the burden of non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH), with fibrosis being the most important histological feature that is associated with progression to cirrhosis and the occurrence of major adverse liver outcomes. Liver biopsy is the gold standard applied to detect NASH and determine the stage of fibrosis, but its use is limited. There is a need for non-invasive testing (NIT) techniques to identify patients considered at-risk NASH (NASH with NAFLD activity score > 4 and ≥ F2 fibrosis). For NAFLD-associated fibrosis, several wet (serological) and dry (imaging) NITs are available and demonstrate a high negative predictive value (NPV) for excluding those with advanced hepatic fibrosis. However, identifying at-risk NASH is more challenging; there is little guidance on how to use available NITs for these purposes, and these NITs are not specifically designed to identify at-risk NASH patients. This review discusses the need for NITs in NAFLD and NASH and provides data to support the use of NITs, focusing on newer methods to non-invasively identify at-risk NASH patients. This review concludes with an algorithm that serves as an example of how NITs can be integrated into care pathways of patients with suspected NAFLD and potential NASH. This algorithm can be used for staging, risk stratification and the effective transition of patients who may benefit from specialty care. 相似文献
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Julia H. Kolodziej Christine M. Leeper Julie C. Leonard Cassandra D. Josephson Mazen S. Zenati Philip C. Spinella 《Transfusion》2023,63(Z3):S26-S34
Background
Antifibrinolytic medications have been associated with reduced mortality in pediatric hemorrhage but may contribute to adverse events such as acute kidney injury (AKI).Study Design and Methods
We conducted a secondary analysis of the MAssive Transfusion in Children (MATIC), a prospectively collected database of children with life-threatening hemorrhage (LTH), and evaluated for risk of adverse events with either antifibrinolytic treatment, epsilon aminocaproic acid (EACA) or tranexamic acid (TXA). The primary outcome was AKI and secondary outcomes were acute respiratory distress syndrome (ARDS) and sepsis.Results
Of 448 children included, median (interquartile range) age was 7 (2–15) years, 55% were male, and LTH etiology was 46% trauma, 34% operative, and 20% medical. Three hundred and ninety-three patients did not receive an antifibrinolytic (88%); 37 (8%) received TXA and 18 (4%) received EACA. Sixty-seven (17.1%) patients in the no antifibrinolytic group developed AKI, 6 (16.2%) patients in the TXA group, and 9 (50%) patients in the EACA group (p = .002). After adjusting for cardiothoracic surgery, cyanotic heart disease, preexisting renal disease, lowest hemoglobin pre-LTH, and total weight-adjusted transfusion volume during the LTH, the EACA group had increased risk of AKI (adjusted odds ratio 3.3 [95% CI: 1.0–10.3]) compared to no antifibrinolytic. TXA was not associated with AKI. Neither antifibrinolytic treatment was associated with ARDS or sepsis.Conclusion
Administration of EACA during LTH may increase the risk of AKI. Additional studies are needed to compare the risk of AKI between EACA and TXA in pediatric patients. 相似文献909.
Maha Abdulrazak Badawi Hend Obad Hussain Mazen Abdulrazak Badawi Lana Adey Al Shawwa Reda Abdullah Jamjoom Yoon Soo Park Ara Tekian 《Transfusion》2023,63(Z1):S20-S27
Background
Transfusion medicine education at the undergraduate level is typically limited in duration. In view of limitations of traditional teaching methods, we explore effectiveness of scoring (Objective Structured Clinical Examination) OSCE as an educational method.Materials and Methods
The study was of a randomized interventional three group pre-test-post-test design. Participants were undergraduate medical students in their two final years. The intervention was watching and scoring 2 videotaped OSCE stations about obtaining consent for blood transfusions and assessing the ability to explain risks, benefits, and alternatives of blood transfusion. Participants were asked to assess the performance of the videotaped actor using checklists. Participants were randomized to watch and evaluate one set of videos at either the highest, intermediate, or lowest compliance with required consent elements. Main measure was performance in a knowledge test containing multiple-choice and true/false questions. This was given before (pre-test), immediately after the intervention (post-test 1), and after 8 weeks (post-test 2). Student perceptions regarding the intervention was assessed immediately after the session.Results
Sixty-nine students were randomized. Post-test 1 results (mean 16.52, SD 1.88) were significantly greater than pre-test results (mean 11.83, SD 2.13) by group and across all groups (p < 0.001). Post-test 2 results for the complete cohort showed maintenance of significant improvement in comparison with the pre-test. The majority of students agreed that learning through scoring OSCE was an effective educational experience.Conclusions
In the undergraduate medical setting, scoring OSCE stations may enhance learning of content discussed and evaluated in the stations. 相似文献910.