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The aim of this work was to identify, which of the known ionic liquids used within the technical area, primarily as a lubricant, would also be appropriate for use as a hydraulic fluid. In this context, their suitability has been proved based on experimental research with respect to the appropriate physical and chemical properties as required for mineral based hydraulic fluid. Primary aim of the research was to determine the ability of ILs to protect against corrosion, which is one of the important factors in choosing an ionic liquid. The results show that, despite excellent lubricating properties, certain ILs fail on this corrosion test. Except the corrosion protection performance of the basic hydraulic components parts, e.g. hydraulic pumps and valves, in the foreground was their compatibility with other materials used within other parts of hydraulic system, e.g. coating of the hydraulic tank and the filter material. For this purpose standard tests methods for mineral based hydraulic oils have been used, supplemented with non-standard tests, carried out at the same conditions as they occur during the operation of the hydraulic system. [ABSTRACT FROM AUTHOR]

A growing body of research indicates that amyotrophic lateral sclerosis (ALS) patients and mouse models of ALS exhibit metabolic dysfunction. A subpopulation of ALS patients possesses higher levels of resting energy expenditure and lower fat-free mass compared to healthy controls. Similarly, two mutant copper zinc superoxide dismutase 1 (mSOD1) mouse models of familial ALS possess a hypermetabolic phenotype. The pathophysiological relevance of the bioenergetic defects observed in ALS remains largely elusive. AMPactivated protein kinase (AMPK) is a key sensor of cellular energy status and thus might be activated in various models of ALS. Here, we report that AMPK activity is increased in spinal cord cultures expressing mSOD1, as well as in spinal cord lysates from mSOD1 mice. Reducing AMPK activity either pharmacologically or genetically prevents mSOD1-induced motor neuron death in vitro. To investigate the role of AMPK in vivo, we used Caenorhabditis elegans models of motor neuron disease. C. elegans engineered to express human mSOD1(G85R) in neurons develops locomotor dysfunction and severe fecundity defects when compared to transgenic worms expressing human wild-type SOD1. Genetic reduction of aak-2, the ortholog of the AMPK 2 catalytic subunit in nematodes, improved locomotor behavior and fecundity in G85R animals. Similar observations were made with nematodes engineered to express mutant tat-activating regulatory (TAR) DNA-binding protein of 43 kDa molecular weight. Altogether, these data suggest that bioenergetic abnormalities are likely to be pathophysiologically relevant to motor neuron disease. [ABSTRACT FROM AUTHOR]

Abstract: The present work is a study to evaluate ionic liquids as a potential solvent for post-combustion CO2 capture. In order to enhance the absorption performance of a CO2 capture unit, different ionic liquids have been designed and tested. The main goal was to get a comparison between a reference liquid and selected ionic liquids. As the reference, a solution of 30w% monoethanolamine (MEA) and water was used. A large range of different pure and diluted ionic liquids was tested with a special screening process to gain general information about the CO2 absorption performance. Based on these results, a 60w% ionic liquid solution in water was selected and the vapour–liquid equilibrium was measured experimentally between 40°C and 110°C. From these curves the enthalpy of absorption for capturing CO2 into the ionic liquid was determined. With these important parameters one is able to calculate the total energy demand for stripping of CO2 from the loaded solvent for comparison of the ionic liquid based solvent with the reference MEA solvent. The energy demand of this 60w% ionic liquid is slightly lower than that of the reference solution, resulting in possible energy savings between 12 and 16%. [Copyright &y& Elsevier]

Bladder carcinomas frequently show extensive deletions of chromosomes 9p and/or 9q, potentially including the loci of the Fanconi anemia (FA) genes FANCC and FANCG. FA is a rare recessive disease due to defects in anyone of 13 FANC genes manifesting with genetic instability and increased risk of neoplasia. FA cells are hypersensitive towards DNA crosslinking agents such as mitomycin C and cisplatin that are commonly employed in the chemotherapy of bladder cancers. These observations suggest the possibility of disruption of the FA/BRCA DNA repair pathway in bladder tumors. However, mutations in FANCC or FANCG could not be detected in any of 23 bladder carcinoma cell lines and ten surgical tumor specimens by LOH analysis or by FANCD2 immunoblotting assessing proficiency of the pathway. Only a single cell line, BFTC909, proved defective for FANCD2 monoubiquitination and was highly sensitive towards mitomycin C. This increased sensitivity was restored specifically by transfer of the FANCF gene. Sequencing of FANCF in BFTC909 failed to identify mutations, but methylation of cytosine residues in the FANCF promoter region was demonstrated by methylation-specific PCR, HpaII restriction and bisulfite DNA sequencing. Methylation-specific PCR uncovered only a single instance of FANCF promoter hypermethylation in surgical specimens of further 41 bladder carcinomas. These low proportions suggest that in contrast to other types of tumors silencing of FANCF is a rare event in bladder cancer and that an intact FA/BRCA pathway might be advantageous for tumor progression. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background and objectives: During partial liquid ventilation perfluorocarbons are instilled into the airways from where they subsequently evaporate via the bronchial system. This process is influenced by multiple factors, such as the vapour pressure of the perfluorocarbons, the instilled volume, intrapulmonary perfluorocarbon distribution, postural positioning and ventilatory settings. In our study we compared the effects of open and closed breathing systems, a heat-and-moisture-exchanger and a sodalime absorber on perfluorocarbon evaporation during partial liquid ventilation. Methods: Isolated rat lungs were suspended from a force transducer. After intratracheal perfluorocarbon instillation (10 mL kg-1) the lungs were either ventilated with an open breathing system (n = 6), a closed breathing system (n = 6), an open breathing system with an integrated heat-and-moisture-exchanger (n = 6), an open breathing system with an integrated sodalime absorber (n = 6), or a closed breathing system with an integrated heat-and-moisture-exchanger and a sodalime absorber (n = 6). Evaporative perfluorocarbon elimination was determined gravimetrically. Results: When compared to the elimination half-life in an open breathing system (1.2 ± 0.07 h), elimination half-life was longer with a closed system (6.4 ± 0.9h, P < 0.01), a sodalime absorber (5.0 ± 0.6 h, P < 0.01) or a heat-and-moisture-exchanger (4.5 ± 0.8 h, P < 0.01). The combination of all three methods (7.1 ± 0.8 h) showed no significant additional effects (P > 0.05) when compared to a closed system. Conclusions: Evaporative perfluorocarbon loss can be reduced effectively with closed breathing systems, followed by the use of sodalime absorbers and heat-and-moisture-exchangers. [ABSTRACT FROM AUTHOR]

Background and objectives: Salt-water aspiration results in pulmonary oedema and hypoxia. We tested the hypothesis that partial liquid ventilation has beneficial effects on gas exchange and rate of survival in acute and extended saltwater-induced lung injury. Methods: Anaesthetized, ventilated rats (tidal volume 6 mL kg-1, PEEP 5 cmH2O) received a tracheal salt-water instillation (3%, 8 mLkg-1 body weight) and were randomly assigned to three groups (n = 10 per group). While lungs of Group 1 were gas-ventilated, lungs of Group 2 received a single perfluorocarbon instillation (30 min after the injury, 5 mLkg-1 perfluorocarbon) and lungs of Group 3 received an additional continuous perfluorocarbon application into the treachea (5 mLkg-1h-1). Arterial blood gases were measured with an intravascular blood gas sensor. Results: Salt-water instillation resulted in a marked decrease in PaO2 values within 30min (from 432 ± 65 to 83 ± 40 mmHg, F1O2 = 1.0, P « 0.01). Arterial oxygenation improved in all three groups irrespective of treatment. We observed no significant differences between groups in peak PaO2 and PaCO2 values. Conclusions: Our results suggest that partial liquid ventilation has no additional beneficial effects on gas exchange after life-threatening salt water-induced lung injury when compared to conventional gas ventilation with positive end-expiratory pressure. [ABSTRACT FROM AUTHOR]

Biallelic mutations in BRCA2/FANCD1 were recently recognized as a rare cause of Fanconi anemia (FA). Using immunodetection with an antiserum directed against the carboxyterminus of the BRCA2 protein, we screened 38 lymphoid cell lines from FA patients whom we could not previously assign, via retroviral complementation analysis, to any of six known FA complementation groups (FA-A, -C, -D2, -E, -F, or -G). Three of these 38 cell lines lacked the 380-kDa BRCA2 signal on immunoblots. DNA sequencing showed biallelic compound and truncating mutations in two of the immuno-negative cell lines, whereas a monoallelic frameshift mutation and an amino acid substitution were detected in the third cell line. Our data show that less than 10% of unassigned FA cell lines harbor truncating mutations in BRCA2/FANCD1. This finding strongly suggests the existence of (an) additional, as yet unknown FA gene(s). Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: To make evidence-based recommendations for screening, diagnosing, and treating psychiatric disorders in individuals with multiple sclerosis (MS). Methods: We reviewed the literature (1950 to August 2011) and evaluated the available evidence. Results and recommendations: Clinicians may consider using the Center for Neurologic Study Emotional Lability Scale to screen for pseudobulbar affect (Level C). Clinicians may consider the Beck Depression Inventory and a 2-question tool to screen for depressive disorders and the General Health Questionnaire to screen for broadly defined emotional disturbances (Level C). Evidence is insufficient to support/refute the use of other screening tools, the possibility that somatic/neurovegetative symptoms affect these tools' accuracy, or the use of diagnostic instruments or clinical evaluation procedures for identifying psychiatric disorders in MS (Level U). Clinicians may consider a telephone-administered cognitive behavioral therapy program for treating depressive symptoms (Level C). Although pharmacologic and nonpharmacologic therapies are widely used to treat depressive and anxiety disorders in individuals with MS, evidence is insufficient to support/refute the use of the antidepressants and individual and group therapies reviewed herein (Level U). For pseudobulbar affect, a combination of dextromethorphan and quinidine may be considered (Level C). Evidence is insufficient to determine the psychiatric effects in individuals with MS of disease-modifying and symptomatic therapies and corticosteroids; risk factors for suicide; and treatment of psychotic disorders (Level U). Research is needed on the effectiveness in individuals with MS of pharmacologic and nonpharmacologic treatments frequently used in the non-MS population.

An abstract of the article "Novel Borohydride-Based Ionic Liquids as Hydrogen Carrier," by C. Grimmer and colleagues is presented.

Provides supplementary information on topics related to genetics, which appeared in the November 2005 issue of “Nature Genetics.”

It has been suggested that synapse-associated protein of 97-kDa molecular weight (SAP97) is a susceptibility factor for childhood and adult neuropsychiatric disorders. SAP97 is a scaffolding protein that shares direct and indirect binding partners with the Disrupted in Schizophrenia 1 ( DISC1 ) gene product, a gene with strong association with neuropsychiatric disorders. Here we investigated the possibility that these two proteins converge upon a common molecular pathway. Since DISC1 modifies Wnt/β-catenin signaling via changes in glycogen synthase kinase 3 beta (GSK3β) phosphorylation, we asked if SAP97 impacts Wnt/β-catenin signaling and GSK3β phosphorylation. We find that SAP97 acts as inhibitor of Wnt signaling activity and can suppress the stimulatory effects of DISC1 on β-catenin transcriptional activity. Reductions in SAP97 abundance also decrease GSK3β phosphorylation. In addition, we find that over expression of DISC1 leads to an increase in the abundance of SAP97, by inhibiting its proteasomal degradation. Our findings suggest that SAP97 and DISC1 contribute to maintaining Wnt/β-catenin signaling activity within a homeostatic range by regulating GSK3β phosphorylation. [ABSTRACT FROM AUTHOR]

Background: Ocular inflammatory events following COVID-19 vaccination have been reported in the adult population., Methods: Multinational case series of patients under the age of 18 diagnosed with ocular inflammatory events within 28 days of COVID-19 vaccination., Results: Twenty individuals were included. The most common event was anterior uveitis ( n  = 8, 40.0%), followed by intermediate uveitis (7 patients, 35%), panuveitis (4 patients, 20%), and posterior uveitis (1 patient, 5%). The event was noticed in the first week after vaccination in 11 patients (55.0%). Twelve patients (60.0%) had a previous history of intraocular inflammatory event. Patients were managed with topical corticosteroids ( n  = 19, 95.0%), oral corticosteroids ( n  = 10, 50.0%), or increased dose of immunosuppressive treatment ( n  = 6, 30.0%). Thirteen patients (65.0%) had a complete resolution of the ocular event without complications. All patients had a final visual acuity unaffected or less than three lines of loss., Conclusion: Ocular inflammatory events may happen in the paediatric population following COVID-19 vaccination. Most events were successfully treated, and all showed a good visual outcome.

Ionic liquids (ILs) are an emerging materials' class with applications in areas such as energy storage, catalysis, and biomass dissolution and processing. Their physicochemical properties including surface tension, viscosity, density and their interplay between cation and anion chemistry are decisive in these applications. For many commercially available ILs, a full set of physicochemical data is not available. Here, we extend the knowledge base by providing physicochemical properties such as density (20 and 25 °C), refractive index (20 and 25 °C), surface tension (23 °C, including polar and dispersive components), and shear viscosity (ambient atmosphere, shear rate 1-200 s -1 ), for 20 commercial ILs. A correlation between the crystal volume, dispersive surface tension, and shear viscosity is introduced as a predictive tool, allowing for viscosity estimation. Systematic exploration of cation/anion alkyl side chain lengths reveals the impact on the IL's physicochemical attributes. Increasing the anion's headgroup decreases surface tension up to 35.7% and consequently shear viscosity. We further demonstrate that the dispersive part of the surface tension linearly correlates with the refractive index of the ionic liquid. While we provide additional physicochemical data, the screening and modeling efforts will contribute to better structure property predictions enabling faster progress in design and applications of ILs., Competing Interests: The authors declare no competing financial interest., (© 2024 The Authors. Published by American Chemical Society.)

Introduction: Psoriasis is a chronic inflammatory condition affecting the skin, joints, and several other organ systems with significant disease burden. Bimekizumab is the first monoclonal antibody targeting both interleukin (IL)-17A and interleukin-17F and has demonstrated efficacy for treating moderate to severe psoriasis. Limited guidelines exist for incorporating this drug into clinical practice. The purpose of this study was for a panel of experts in psoriasis management to synthesize current literature and provide consensus statements with guidance on use of bimekizumab., Methods: A comprehensive literature search of PubMed, Scopus, and Google Scholar was completed for English-language original research articles on the use of bimekizumab for moderate to severe psoriasis and psoriatic arthritis. A panel of nine dermatologists with significant expertise in treatment of psoriasis gathered to review the articles and create consensus statements on this new medication. A modified Delphi process was used to approve each statement and a strength of recommendation was assigned using Strength of Recommendation Taxonomy criteria., Results: The literature search produced 102 articles that met criteria. A thorough screening of the studies for relevance to the research question resulted in 19 articles. These were distributed to all panelists for review prior to a roundtable discussion. The panel unanimously voted to adopt 14 consensus statements and recommendations, 12 of which were given a strength of "A", one of which was given a strength of "B", and one of which was given a strength of "C"., Conclusion: Bimekizumab results in rapid and long-lasting clinical improvement for patients with moderate to severe plaque psoriasis and psoriatic arthritis. It has demonstrated superior efficacy when compared to several other biologics. The safety profile is consistent with other biologics, except for an increased incidence of oropharyngeal candidiasis., (© 2024. The Author(s).)

Background: Safe and effective biosimilar medications have the potential to significantly increase access to these valuable drugs. The two current biosimilars available in dermatology in the United States (US) are infliximab and rituximab which were Food and Drug Administration (FDA) approved in 2016 and 2018 respectively. There has been significant interest in this topic as a number of biosimilar versions of adalimumab will be available in 2023., Objective: This review will discuss biosimilar basics and the experience with biosimilars used in dermatology in the US, Asia, and Europe., Methods: All articles in Ovid/Medline from 2015 to Feb 2023 on biosimilars were reviewed with a particular emphasis on medications used in dermatology. Other reports from pharmaceutical manufacturers and blogs following the development of the biosimilar industry provided key insights., Results: Biosimilars have been able to produce significant savings and market share increases, particularly in Europe, where there has been a longer experience. The specifics depend on drug prescribing practices and incentives in the individual country. This degree of savings and market share increases have not been realized with the current biosimilars available in the US., Conclusion: While biosimilars have resulted in significant savings compared to originator drugs, it is clear that prescribing incentives and physician education are crucial in achieving these savings. To what degree biosimilar market share will increase in the US remains to be determined., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)

Purpose: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease genes associated with RTS in >70% of cases. We describe RTS-like features in 5 individuals with biallelic variants in CRIPT (OMIM 615789)., Methods: Two newly identified and 4 published individuals with CRIPT variants were systematically compared with those with RTS using clinical data, computational analysis of photographs, histologic analysis of skin, and cellular studies on fibroblasts., Results: All CRIPT individuals fulfilled the diagnostic criteria for RTS and additionally had neurodevelopmental delay and seizures. Using computational gestalt analysis, CRIPT individuals showed greatest facial similarity with individuals with RTS. Skin biopsies revealed a high expression of senescence markers (p53/p16/p21) and the senescence-associated ß-galactosidase activity was elevated in CRIPT-deficient fibroblasts. RECQL4- and CRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors and no or only mild sensitivity to genotoxic stress by ionizing radiation, mitomycin C, hydroxyurea, etoposide, and potassium bromate., Conclusion: CRIPT causes an RTS-like syndrome associated with neurodevelopmental delay and epilepsy. At the cellular level, RECQL4- and CRIPT-deficient cells display increased senescence, suggesting shared molecular mechanisms leading to the clinical phenotypes., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2023 American College of Medical Genetics and Genomics. All rights reserved.)

The Polycomb repressive complexes PRC1, PRC2, and PR-DUB repress target genes by modifying their chromatin. In Drosophila , PRC1 compacts chromatin and monoubiquitinates histone H2A at lysine 118 (H2Aub1), whereas PR-DUB is a major H2Aub1 deubiquitinase, but how H2Aub1 levels must be balanced for Polycomb repression remains unclear. We show that in early embryos, H2Aub1 is enriched at Polycomb target genes, where it facilitates H3K27me3 deposition by PRC2 to mark genes for repression. During subsequent stages of development, H2Aub1 becomes depleted from these genes and is no longer enriched when Polycomb maintains them repressed. Accordingly, Polycomb targets remain repressed in H2Aub1-deficient animals. In PR-DUB catalytic mutants, high levels of H2Aub1 accumulate at Polycomb target genes, and Polycomb repression breaks down. These high H2Aub1 levels do not diminish Polycomb protein complex binding or H3K27 trimethylation but increase DNA accessibility. We show that H2Aub1 interferes with nucleosome stacking and chromatin fiber folding in vitro. Consistent with this, Polycomb repression defects in PR-DUB mutants are exacerbated by reducing PRC1 chromatin compaction activity, but Polycomb repression is restored if PRC1 E3 ligase activity is removed. PR-DUB therefore acts as a rheostat that removes excessive H2Aub1 that, although deposited by PRC1, antagonizes PRC1-mediated chromatin compaction., (© 2022 Bonnet et al.; Published by Cold Spring Harbor Laboratory Press.)

The effective elimination of foodborne pathogens through cleaning and disinfection measures is of great importance to the food processing industry. As food producers rely heavily on disinfectants to control pathogenic bacteria in their facilities, the increasing spread of tolerant, often even multidrug resistant, strains is of particular concern. In addition to efforts to prevent or at least reduce development and spread of strains resistant to disinfectants and sanitizers, there is an urgent need for new and effective antimicrobials. One new class of promising antimicrobials is ionic liquids (ILs), which have been reported to be effective against resistant strains as they interact with bacterial cells in multiple ways, but investigations of their effectivity against MDR bacteria or specific defense mechanisms are still limited. This study investigates the role of multidrug efflux pumps of the Resistance Nodulation-Division family (RND) on the resistance of bacterial pathogens Escherichia coli and Salmonella enterica serovar Typhimurium toward 10 antimicrobial active ILs. Results reveal that, while known structure-activity relationships (SARs), such as the side-chain effect, were found for all strains, antimicrobial ILs with one elongated alkyl side chain were significantly affected by the RND efflux pump, highlighting the importance of efflux pumps for future IL toxicity studies. In case of antimicrobial ILs with multiple side chains and different cationic head groups, two ILs were identified that were highly active against all investigated strains with little to no effect of the efflux pump. The results obtained in this study for RND efflux pumps can serve as a starting point for identifying and designing antimicrobial ILs as effective biocides against MDR bacteria., Competing Interests: RK is employed by Proionic GmbH. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Gundolf, Kalb, Rossmanith and Mester.)

Squamous cell carcinomas (SCC) frequently have an exceptionally high mutational burden. As consequence, they rapidly develop resistance to platinum-based chemotherapy and overall survival is limited. Novel therapeutic strategies are therefore urgently required. SCC express ∆Np63, which regulates the Fanconi Anemia (FA) DNA-damage response in cancer cells, thereby contributing to chemotherapy-resistance. Here we report that the deubiquitylase USP28 is recruited to sites of DNA damage in cisplatin-treated cells. ATR phosphorylates USP28 and increases its enzymatic activity. This phosphorylation event is required to positively regulate the DNA damage repair in SCC by stabilizing ∆Np63. Knock-down or inhibition of USP28 by a specific inhibitor weakens the ability of SCC to cope with DNA damage during platin-based chemotherapy. Hence, our study presents a novel mechanism by which ∆Np63 expressing SCC can be targeted to overcome chemotherapy resistance. Limited treatment options and low response rates to chemotherapy are particularly common in patients with squamous cancer. The SCC specific transcription factor ∆Np63 enhances the expression of Fanconi Anemia genes, thereby contributing to recombinational DNA repair and Cisplatin resistance. Targeting the USP28-∆Np63 axis in SCC tones down this DNA damage response pathways, thereby sensitizing SCC cells to cisplatin treatment., (© 2021. The Author(s).)

Purpose: To identify the risk factors for the development of subretinal fibrosis (SRF) among patients with Vogt-Koyanagi-Harada (VKH) syndrome., Methods: In this case-control study, electronic clinical records from patients diagnosed with VKH syndrome who attended the Inflammatory Eye Disease Clinic at a tertiary care ophthalmology reference center were assessed to identify risk factors from demographic, clinical, and epidemiological variables. Cases were defined as SRF and VKH, whereas the controls were VKH patients without SRF., Results: A total of 150 electronic charts were reviewed, 92 patients with a follow-up longer than 12 months were included; 39 cases and 53 controls. A multivariate analysis found bullous serous retinal detachment as a significant risk factor for SRF (adjusted OR 8.93, 95% CI 1.94-41.1)., Conclusion: Patients with VKH syndrome who develop a bullous retinal detachment have an 8 times higher risk of developing SRF in the long term.

Purpose: Fanconi anemia (FA) and ataxia-telangiectasia (AT) are rare inherited syndromes characterized by abnormal DNA damage response and caused by pathogenic variants in key DNA repair proteins that are also relevant in the pathogenesis of breast cancer and other cancer types. The risk of cancer in children with these diseases is poorly understood and has never been assessed in a population-based cohort before., Methods: We identified 421 patients with FA and 160 patients with AT diagnosed between 1973 and 2020 through German DNA repair disorder reference laboratories. We linked patients' laboratory data with childhood cancer data from the German Childhood Cancer Registry., Results: Among 421 patients with FA, we observed 33 cases of childhood cancer (15 cases of myelodysplastic syndrome; seven cases of acute myeloid leukemia; two cases of lymphoma, carcinoma, medulloblastoma, and nephroblastoma, respectively; and one case of rhabdomyosarcoma, acute lymphoblastic leukemia, and glioma, respectively) versus 0.74 expected (on the basis of population-based incidence rates in Germany). This corresponds to a 39-fold increased risk (standardized incidence ratio [SIR] = 39; 95% CI, 26 to 56). For all FA subgroups combined, the cancer-specific SIR for myeloid neoplasms was 445 (95% CI, 272 to 687). Among the 160 patients with AT, we observed 19 cases of childhood cancer (15 cases of lymphoma, three cases of leukemia, and one case of medulloblastoma) versus 0.32 expected. This corresponds to a 56-fold increased risk (SIR = 56; 95% CI, 33 to 88). The cancer-specific SIR for Hodgkin lymphoma was 215 (95% CI, 58 to 549) and for non-Hodgkin lymphoma 470 (95% CI, 225 to 865)., Conclusion: Approximately 11% of patients with FA and 14% of patients with AT develop cancer by age 18 years.