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1.
Artigo em Inglês | MEDLINE | ID: mdl-38693348

RESUMO

PURPOSE: This study investigates baseline patient demographics and predictors of vascular injury, blood transfusion, and compartment syndrome in patients with orthopaedic fractures secondary to GSWs at two high-volume Level I trauma centres. METHODS: A retrospective chart review of all GSW-related trauma patients at two Level I trauma centres between July 2019 and September 2021 was conducted. Chi-squared and two-tailed independent t tests were used for data analysis, and logistic regression with odds ratios (OR) determined predictors of primary outcomes. RESULTS: Among 478 GSW patients, 94 (19.7%) sustained 130 orthopaedic fractures, most commonly at the lower extremity (77.7%). Orthopaedic fracture patients showed significantly higher rates of vascular injury (29.8 vs. 4.7%, p < 0.001), transfusion (27.7 vs. 12.8%, p = 0.006), and compartment syndrome (3.2 vs. 0.3%, p = 0.011) compared to non-orthopaedic injury patients. Univariable analysis identified ankle (OR = 47.50, p < 0.001) and hip/femur fractures (OR = 5.31, p < 0.001) as predictors of vascular injury. Multivariable logistic regression revealed lower extremity vascular injury (OR = 54.69, p = 0.006) and anatomic fracture sites of the humerus (OR = 15.17, p = 0.008), clavicle/scapula (OR = 11.30, p = 0.009), and acetabulum/pelvis (OR = 7.17, p = 0.025) as predictors of blood transfusion. Univariable analysis showed lower extremity vascular injury (OR = 30.14, p = 0.007) as a predictor of compartment syndrome. CONCLUSION: These findings underscore the importance of diagnosing and managing vascular injuries and compartment syndrome in GSW-related orthopaedic fractures, emphasizing the necessity for targeted transfusion strategies in such cases.

2.
J Orthop ; 55: 91-96, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38665991

RESUMO

Background: Isolated, closed, femoral shaft fractures are dangerous injuries that commonly occur in the setting of high energy trauma or among older patients with significant comorbidities. Despite their prevalence, relatively little data exists connecting patient independent risk factors to the time to 30-day mortality, unplanned reoperations and unplanned readmissions in these fractures. Methods: Using National Surgical Quality Improvement Program (NSQIP) database, isolated close femoral shaft fractures were identified using ICD-10 codes. Patient demographics, perioperative course and adverse events were identified. Categorical and binary variables were analyzed among procedure cohorts using Chi2 analysis. Univariate and multivariate analysis were conducted to identify independent risk factors associated with primary outcomes. Results: Between 2010 and 2019, 1346 closed isolated femoral shaft fracture patients with a mean age of 66.7 were identified, of whom 30.6% and 69.4% were male and female, respectively. Surgical procedures included: 915 (68.0%) intramedullary nail (IMN); 428 (31.8%) open reduction internal fixation (ORIF); and 3 (0.2%) external fixator (Ex-fix). Patients who underwent ORIF reported 3.19 (OR: 3.19; CI: 1.45-7.03; p = 0.004) and 2.12 (OR: 2.12; CI: 1.10-4.09; p = 0.024) increased odds of mortality and unplanned related readmission compared to patients who received IMN. Transfusion, DVT, and PE rates were 34.2%, 1.4%, and 1.1%, respectively. Furthermore, 50% of mortality cases occurred within 6 days of surgery. Patients requiring reintubation reported 61.8 (OR: 61.8; CI: 15.7-242.40; p < 0.001) increased odds of mortality compared to patients not requiring reintubation. Conclusion: Patients with femoral shaft fractures who require reintubation have increased odds of mortality than those successfully extubated. In addition to precautions prior to extubation, patients with femoral shaft fractures should also be carefully monitored for the development of DVT or PE, and they should be definitively fixed with IMN whenever possible.

3.
RSC Chem Biol ; 5(3): 216-224, 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38456039

RESUMO

The occurrence of non-canonical nucleoside structures in RNA of biological or synthetic origin has encountered several recent boosts in attention, namely in the context of RNA modifications, and with an eye to RNA vaccines. New nucleoside structures introduce added functionality and function into biopolymers that are otherwise rather homogenous in their chemical structure. Here, we report the discovery of a presumed RNA modification that was identified by combination of liquid chromatography-tandem mass spectrometry (LC-MS/MS) with stable isotope labelling as a dimer of the known RNA modification 4-thiouridine (s4U). The disulfide-linked structure, which had previously been synthetically introduced into RNA, was here formed spontaneously in isolates of E. coli tRNA. Judicious application of stable isotope labelling suggested that this presumed new RNA modification was rather generated ex vivo by oxidation with ambient oxygen. These findings do not only underscore the need for caution in the discovery of new RNA modifications with respect to artifacts, but also raise awareness of an RNA vulnerability, especially to oxidative damage, during its transport or storage.

5.
Antibiotics (Basel) ; 12(6)2023 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-37370309

RESUMO

Periodontitis is a common global disease caused by bacterial dysbiosis leading to tissue destruction, and it is strongly associated with anaerobic bacterial colonization. Therapeutic strategies such as oxygen therapy have been developed to positively influence the dysbiotic microbiota, and the use of oxygen-releasing substances may offer an added benefit of avoiding systemic effects commonly associated with antibiotics taken orally or hyperbaric oxygen therapy. Therefore, the oxygen release of calcium peroxide (CaO2) was measured using a dissolved oxygen meter, and CaO2 solutions were prepared by dissolving autoclaved CaO2 in sterile filtered and deionized water. The effects of CaO2 on planktonic bacterial growth and metabolic activity, as well as on biofilms of Streptococcus oralis and Porphyromonas gingivalis, were investigated through experiments conducted under anaerobic conditions. The objective of this study was to investigate the potential of CaO2 as an antimicrobial agent for the treatment of periodontitis. Results showed that CaO2 selectively inhibited the growth and viability of P. gingivalis (p < 0.001) but had little effect on S. oralis (p < 0.01), indicating that CaO2 has the potential to selectively affect both planktonic bacteria and mono-species biofilms of P. gingivalis. The results of this study suggest that CaO2 could be a promising antimicrobial agent with selective activity for the treatment of periodontitis.

6.
Mycotoxin Res ; 39(3): 303-316, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37351768

RESUMO

The KEAP1-Nrf2/ARE pathway is a pivotal cytoprotective regulator against oxidative stress which plays an important role in the development of many inflammatory diseases and cancer. Activation of the Nrf2 transcription factor by oxidative stress or electrophiles regulates antioxidant response element (ARE)-dependent transcription of antioxidative, detoxifying, and anti-inflammatory proteins. Therefore, modulators of the KEAP1-Nrf2/ARE pathway have received considerable interest as therapeutics to protect against diseases where oxidative stress constitutes the underlying pathophysiology. In a search for fungal secondary metabolites affecting the Nrf2/ARE-dependent expression of a luciferase reporter gene in BEAS-2B cells, three new perylenequinones, compounds 1, 2, and 3, together with altertoxin-I (ATX-I), were isolated from fermentations of an Alternaria species. The structures of the compounds were elucidated by a combination of one- and two-dimensional NMR spectroscopy and mass spectrometry. Compound 1 and ATX-I exhibited strong cytotoxic effects with LC50-values of 3.8 µM and 6.43 µM, respectively, whereas compound 3 showed no cytotoxic effects up to 100 µM on BEAS-2B cells. ATX-I induced ARE-dependent luciferase expression approximately fivefold and compound 1 approximately 2.6-fold at a concentration of 3 µM in transiently transfected BEAS-2B cells. In addition, compound 1 and ATX-I exhibited strong oxidative effects, whereas compound 3 did not show significant oxidative properties. For compound 1 and ATX-I, a strong upregulation of heme oxygenase-1 could be observed on mRNA and protein level in treated BEAS-2B cells. Moreover, compound 3 significantly decreased sod3 mRNA levels after induction of oxidative stress with benzoquinone.


Assuntos
Alternaria , Fator 2 Relacionado a NF-E2 , Alternaria/metabolismo , Proteína 1 Associada a ECH Semelhante a Kelch/genética , Proteína 1 Associada a ECH Semelhante a Kelch/metabolismo , Fator 2 Relacionado a NF-E2/genética , Fator 2 Relacionado a NF-E2/metabolismo , Antioxidantes/farmacologia , Antioxidantes/metabolismo , Estresse Oxidativo , RNA Mensageiro/metabolismo , RNA Mensageiro/farmacologia
7.
J Surg Res ; 289: 247-252, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37150079

RESUMO

INTRODUCTION: Stress-induced hyperglycemia (SIH) is associated with worse outcomes among trauma patients. It is also known that injured geriatric patients have higher mortality when compared to younger patients. We sought to investigate the association of all levels of SIH with mortality among geriatric trauma patients at a level 1 academic trauma center. We hypothesized that SIH in the geriatric trauma population would be associated with increased mortality. METHODS: A retrospective review of all geriatric patients admitted to our level 1 trauma center over a 3-year period (January 2018-December 2020) was performed using the institutional trauma database. Data collected included demographics, injury severity score (ISS), emergency department (ED) blood glucose level, ED systolic blood pressure (SBP), and mortality. Patients were divided into 4 groups based on emergency room blood glucose level, as follows: normoglycemic (<120 mg/dL), mild hyperglycemia (120-150 mg/dL), moderate hyperglycemia (151-199 mg/dL), and severe hyperglycemia (≥200 mg/dL). Multivariable logistic regression analysis was performed to evaluate the association of SIH and in-hospital mortality adjusting for ISS, age, comorbidities, and ED SBP. RESULTS: A total of 4432 geriatric trauma patients were admitted during the study period, of which 3358 patients (75.8%) were not diabetic. There were 2206 females (65.7%), 2993 were White (89.2%), with a mean age of 81.5 y. There were 114 deaths (3.4%). Univariate results showed that there was a statistically significant association between mortality and glucose groups (P < 0.01). The number of deaths in the four glucose groups were, as follows: 30 (2.0%), 32 (3.8%), 20 (6.2%), and 10 (12.2%), respectively. Multivariable logistic regression analysis results showed that compared to the normoglycemic group, the risk of death was higher in the mild, moderate, and severe glucose groups, as follows: mild group (OR 1.80, 95% confidence interval [CI] 1.04-3.13, P 0.04), moderate group (OR 2.53, 95% CI 1.34-4.80, P < 0.01), and severe group (OR 5.04, 95% CI 2.18-11.67, P < 0.01). CONCLUSIONS: Mild, moderate, and severe SIH are statistically significant predictors of death among geriatric trauma patients independently of ISS, age, comorbidities, and SBP.


Assuntos
Diabetes Mellitus , Hiperglicemia , Feminino , Humanos , Idoso , Idoso de 80 Anos ou mais , Glicemia/análise , Estresse Fisiológico/fisiologia , Comorbidade
8.
Chirality ; 35(10): 753-765, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37227055

RESUMO

The determination of the absolute configuration (AC) of an organic molecule is still a challenging task for which the combination of spectroscopic with quantum-mechanical methods has become a promising approach. In this study, we investigated the accuracy of DFT methods (480 overall combinations of 15 functionals, 16 basis sets, and 2 solvation models) to calculate the VCD spectra of six chiral organic molecules in order to benchmark their capability to facilitate the determination of the AC.

10.
Radiology ; 307(4): e230229, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37070994

RESUMO

This special report discusses the importance of climate change for health care and radiology. The impact of climate change on human health and health equity, the contribution of health care and medical imaging to the climate crisis, and the impetus for change within radiology to create a more sustainable future are covered. The authors focus on actions and opportunities to address climate change in our role as radiologists. A toolkit highlights actions we can take toward a more sustainable future, linking each action with the expected impact and outcome. This toolkit includes a hierarchy of actions from first steps to advocating for system-level change. This includes actions we can take in our daily lives, in radiology departments and professional organizations, and in our relationships with vendors and industry partners. As radiologists, we are adept at managing rapid technological change, which makes us ideally suited to lead these initiatives. Alignment of incentives and synergies with health systems are highlighted given that many of the proposed strategies also result in cost savings.


Assuntos
Mudança Climática , Radiologia , Humanos , Radiologia/métodos , Radiografia , Atenção à Saúde , Radiologistas
11.
J Orthop Trauma ; 37(9): e368-e376, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-37053117

RESUMO

OBJECTIVES: To determine the effect of anti-factor Xa assay dosing of low-molecular-weight heparin (LMWH) on rates of venous thromboembolism (VTE), deep vein thrombosis (DVT), pulmonary embolism (PE), bleeding, and mortality among orthopaedic trauma patients. DATA SOURCES: PubMed/MEDLINE, Embase, Ovid, Cochrane Central Register of Controlled Trials (CENTRAL), clinicaltrials.gov , and Scopus were systematically searched from inception of the database to 2021. STUDY SELECTION: Prospective, retrospective, and randomized controlled trial studies were included if they compared rates of VTE, DVT, PE, bleeding, and/or mortality between orthopaedic trauma patients receiving anti-factor Xa-based LMWH dosing and those receiving standard dosing. DATA EXTRACTION: Two independent reviewers screened titles and abstracts for eligibility. Study characteristics including study design, inclusion criteria, and intervention were extracted. DATA SYNTHESIS: Meta-analysis was performed using pooled proportion of events (effect size) with 95% confidence intervals. A random-effects model was used. Heterogeneity was quantified by Higgins I 2 . Heterogeneity and variability between subgroups indicated differences in the pooled estimate represented by a P -value. RESULTS: Six hundred eighty-five studies were identified, and 10 studies including 2870 patients were included. In total, 30.3% and 69.7% received an adjusted and nonadjusted dose of LMWH, respectively. The rate of VTE and DVT were significantly lower in the anti-factor Xa-adjusted cohort, whereas there was no statistically significant difference in rates of PE, bleeding, or mortality between the cohorts. CONCLUSIONS: This systematic review and meta-analysis demonstrates that anti-factor Xa activity assay dosing of LMWH among orthopaedic trauma patients leads to a reduction in overall DVT rates, although not PE rates, without an increased risk of bleeding events. LEVEL OF EVIDENCE: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.


Assuntos
Ortopedia , Embolia Pulmonar , Tromboembolia Venosa , Trombose Venosa , Humanos , Tromboembolia Venosa/diagnóstico , Tromboembolia Venosa/etiologia , Tromboembolia Venosa/prevenção & controle , Heparina de Baixo Peso Molecular/uso terapêutico , Trombose Venosa/etiologia , Trombose Venosa/prevenção & controle , Estudos Prospectivos , Estudos Retrospectivos , Anticoagulantes/uso terapêutico , Embolia Pulmonar/prevenção & controle , Hemorragia/induzido quimicamente , Hemorragia/tratamento farmacológico
12.
Int J Mol Sci ; 24(6)2023 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-36983008

RESUMO

Periodontitis is a chronic biofilm-associated inflammatory disease of the tooth-supporting tissues that causes tooth loss. It is strongly associated with anaerobic bacterial colonization and represents a substantial global health burden. Due to a local hypoxic environment, tissue regeneration is impaired. Oxygen therapy has shown promising results as a potential treatment of periodontitis, but so far, local oxygen delivery remains a key technical challenge. An oxygen (O2)-releasing hyaluronic acid (HA)-based dispersion with a controlled oxygen delivery was developed. Cell viability of primary human fibroblasts, osteoblasts, and HUVECs was demonstrated, and biocompatibility was tested using a chorioallantoic membrane assay (CAM assay). Suppression of anaerobic growth of Porphyromonas gingivalis was shown using the broth microdilution assay. In vitro assays showed that the O2-releasing HA was not cytotoxic towards human primary fibroblasts, osteoblasts, and HUVECs. In vivo, angiogenesis was enhanced in a CAM assay, although not to a statistically significant degree. Growth of P. gingivalis was inhibited by CaO2 concentrations higher than 256 mg/L. Taken together, the results of this study demonstrate the biocompatibility and selective antimicrobial activity against P. gingivalis for the developed O2-releasing HA-based dispersion and the potential of O2-releasing biomaterials for periodontal tissue regeneration.


Assuntos
Ácido Hialurônico , Periodontite , Humanos , Ácido Hialurônico/farmacologia , Engenharia Tecidual , Oxigênio , Porphyromonas gingivalis , Periodontite/terapia , Periodontite/microbiologia
13.
J Nat Prod ; 86(4): 924-938, 2023 04 28.
Artigo em Inglês | MEDLINE | ID: mdl-37001011

RESUMO

The first total synthesis of the natural product (13R,14S,15R)-13-hydroxy-14-deoxyoxacyclododecindione, which was isolated in 2018 as a member of the oxacyclododecindione family, is reported. A synthetic strategy through intramolecular Friedel-Crafts acylation combined with the stereoselective synthesis of a new triol key fragment allowed the preparation of the macrolactone. Due to mismatching physical data of the synthetic product, a revision of the configuration of the natural product isolated in 2018 is required. Light-induced E/Z-isomerism of the macrolactone backbone is described for the first time in the class of oxacyclododecindione-type macrolactones. The hydroxylated macrolactone prepared herein was found to show highly promising IC50 values in biological assays addressing the inhibition of inflammatory responses.


Assuntos
Anti-Inflamatórios , Anti-Inflamatórios/farmacologia , Isomerismo , Estrutura Molecular , Estereoisomerismo
14.
Futures ; 149: 103115, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36777995

RESUMO

Covid-19 forced changes in everyday life upon large sections of the world's population, with lockdowns and social distancing measures effecting conditions of work and leisure for billions of people. In this context our research created a space in which people living in countries in Europe, North and South America, Asia, and Africa were invited to imagine what the future could look like - beyond the pandemic - by writing a Letter from the Future. In this paper we examine what these letters show about one particular relationship between the present and the future: a relationship of hope. In the context of major crises, and the complex experiences of loss they involve, the possibilities for hope becomes an urgent issue. We analyse a selection of responses from participants between 18 and 35 years-old, from Ecuador and Greece, to address two questions: (1) Do these letters express hope? (2) If so, in what ways is this hope political? Our answers to these questions have implications for understanding the nature, possibilities and politics of hope at times of crisis. They also have implications for futures studies: indicating the potential value of embedding the Letters from the Future method in a range of research contexts.

15.
Org Biomol Chem ; 21(3): 644-650, 2023 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-36562378

RESUMO

Herein, we describe two complementary approaches towards various organic thiocyanates that are affordable, reliable and follow the principles of sustainable chemistry, starting from commercially available thiols or disulfides. Additionally, the application of this mild method to the first total synthesis of psammaplin B is demonstrated. Non-toxic and inexpensive ferricyanide is used as the cyanide source, which can be activated either in a mechanochemical, solvent-free approach, or in a biphasic solvent system allowing easier work-up. A total of 27 examples is demonstrated, with up to quantitative yields.


Assuntos
Ferrocianetos , Tiocianatos , Cianetos , Dissulfetos
16.
J Health Care Poor Underserved ; 33(4S): 209-221, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36533470

RESUMO

The Baltimore City Health Department (BCHD) has developed a COVID-19 continuum of services to protect special populations at high risk of COVID-19 made possible through inter-agency and public-private partnerships. We present descriptions of each element along with descriptive data. Lessons are discussed to inform future public health frameworks.


Assuntos
COVID-19 , Parcerias Público-Privadas , Humanos , Baltimore/epidemiologia , COVID-19/epidemiologia , COVID-19/prevenção & controle , Saúde Pública
17.
Pharmaceutics ; 14(10)2022 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-36297494

RESUMO

Various local and systemic factors compromise oral wound healing and may lead to wound dehiscence, inflammation, or ulcers. Currently, there is a lack of topical therapeutical options. Thus, this study aimed to investigate the effect of Aloe vera (AV) and Rheum palmatum root (RPR) on oral wound healing capacity in vitro. The effect of AV and RPR on human primary fibroblast viability and migration was studied by measuring metabolic activity and gap closure in a scratch assay. Furthermore, cell cycle distribution and cytoskeletal features were analyzed. Antimicrobial activity against the oral pathogen Porphyromonas gingivalis was evaluated by broth microdilution assay. AV and RPR increased fibroblast migration after single agent treatment. Synergistic effects of the plant extract combination were observed regarding cellular migration which were confirmed by calculation of the phenomenological combination index (pCI), whereas the cell cycle distribution was not influenced. Furthermore, the combination of AV and RPR showed synergistic antibacterial effects as determined by the fractional inhibitory concentration index. This study demonstrated that the combination of AV and RPR can promote the migration of human primary fibroblasts in vitro and exert antimicrobial efficacy against P. gingivalis, suggesting these compounds for the topical treatment of wound healing disorders.

18.
Healthcare (Basel) ; 10(8)2022 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-36011129

RESUMO

The association of gender with mortality in trauma remains a subject of debate. Geriatric trauma patients have a higher risk of mortality compared to younger patients. We sought to evaluate the association of gender with mortality in a group of geriatric trauma patients presenting to an academic level 1 trauma center (trauma center designated by New York State capable of handling the most severe injuries and most complex cases). METHODS: We performed a retrospective review of geriatric trauma patients who were admitted to our trauma center between January 2018 and December 2020. Data collected included vital signs, demographics, injury, and clinical characteristics, laboratory data and outcome measures. The study controlled for co-morbidities, injury severity score (ISS), and systolic blood pressure (SBP) in the ED. Multivariable logistic regression analysis was performed to evaluate the association of gender and mortality. RESULTS: 4432 geriatric patients were admitted during the study period, there were 1635 (36.9%) men and 3859 (87.2%) were White with an average age of 81 ± 8.5 years. The mean ISS was 6.7 ± 5.4 and average length of stay was 6 ± 6.3 days. There were 165 deaths. Male gender (OR 1.94, 95% CI 1.38 to 2.73), ISS (OR 1.12, 95% CI 1.09 to 1.14), Emergency Department SBP less than 90 mmHg (OR 6.17, 95% CI 3.17 to 12.01), and having more than one co-morbidity (OR 2.28, 95% CI 1.55 to 3.35) were independently predictive of death on multivariable logistic regression analysis. CONCLUSION: Male gender, Emergency Department systolic blood pressure less than 90 mmHg, having more than one co-morbidity, and injury severity are independent predictors of mortality among geriatric trauma patients.

19.
J Nat Prod ; 85(7): 1681-1690, 2022 07 22.
Artigo em Inglês | MEDLINE | ID: mdl-35704432

RESUMO

The genus Vernonia is an extremely rich source of biologically active sesquiterpene lactones. The present report describes the spectroscopic structure elucidation and the cytotoxic and antimicrobial properties of five hitherto unknown germacranolide-like sesquiterpenoids and several known compounds. These new derivatives include a compound (1) with an unprecedented 10/5/5/6 tetracyclic framework featuring a hexahydro-1H,3H,7H-furo[3',4':3,4]furo[3,2-c]pyridin-1-one core resulting from an intramolecular cyclization cascade involving a methacrylate substituent and a low molecular weight amine. Furthermore, an elemane-germacranolide hybrid (2) and three amino acid-derived lactones (3-5) were characterized. A plausible biosynthetic pathway to the key alkaloid is presented, while shielding tensor calculations using DFT in combination with the DP4+ method were applied to elucidate its stereostructure. The newly characterized compounds along with ten known sesquiterpene lactones and phenolic compounds have been isolated from Vernonia tufnelliae, a medicinal plant from the western region of Cameroon. Their structures were consistent with spectroscopic and spectrometric data recorded. The present report is the first investigation of the chemistry and biology of V. tufnelliae.


Assuntos
Antineoplásicos , Sesquiterpenos , Vernonia , Lactonas/química , Estrutura Molecular , Compostos Fitoquímicos , Sesquiterpenos/química , Vernonia/química
20.
Front Immunol ; 13: 886540, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35720367

RESUMO

We report two patients with DNA repair disorders (Artemis deficiency, Ataxia telangiectasia) with destructive skin granulomas, presumably triggered by live-attenuated rubella vaccinations. Both patients showed reduced naïve T cells. Rapid resolution of skin lesions was observed following hematopoietic stem cell transplantation. However, the patient with AT died due to complications of severe hepatic veno-occlusive disease 6 month after HSCT. Dried blood spots obtained after birth were available from this patient and showed absent T-cell receptor excision circles (TRECs). Therefore, newborn screening may help to prevent patients with moderate T-cell deficiency from receiving live-attenuated rubella vaccine potentially causing granulomas.


Assuntos
Ataxia Telangiectasia , Distúrbios no Reparo do DNA , Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência , Ataxia Telangiectasia/genética , Criança , Distúrbios no Reparo do DNA/complicações , Granuloma/genética , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Síndromes de Imunodeficiência/genética , Recém-Nascido , Vírus da Rubéola/genética
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