FEV 1/FVC normally decreases through childhood, increases briefly during early adolescence, and then declines throughout life. The physiology behind this temporary increase during early adolescence is not well understood. The objective of this study was to determine if this pattern also occurs in children with asthma. Design: Single-center, cross-sectional, retrospective analysis of pulmonary function tests (PFTs) obtained over a 5-year period in children 5 to 18 years of age with persistent asthma. Results: 1,793 patients satisfied all inclusion and exclusion criteria. Mean age (± SD) was 10.4 ± 3.8 years. 48% were female. Mean FEV 1 /FVC was 0.83 ± .09. FEV 1 /FVC in children with persistent asthma declined from age 5 to age 11 by 5.7 % compared to 7.3% in healthy girls, and 5.8% compared to 9.4% in healthy boys. FEV 1/FVC increased by 1.2% until age 16 in children with asthma, compared to 2.2% in healthy girls, and 2.5% compared to 2.3% in healthy boys. The ratio was lower in obese children with asthma at all ages but demonstrated the same curvilinear shape as in healthy children. In absolute terms, FEV 1 grew proportionately more than FVC during early adolescence, so the ratio of FEV 1/FVC increased during that period. The curvilinear shape of the curve remained in postbronchodilator testing, though significantly blunted. Conclusions: The “Shepherd’s Hook” pattern in the FEV 1/FVC curve is preserved in children with persistent asthma. This was also true in obese patients with asthma, although their FEV 1/FVC ratios were lower throughout all stages of childhood and adolescence.

A document by Naveen Gautam. Click on the document to view its contents.

Introduction:Sickle cell disease (SCD) is a group of inherited diseases characterised by the presence of haemoglobin S (Hb S), either by homozygosity for the sickle mutation (Hb SS) or by mixed heterozygosity with another beta-globin variant (e.g. sickle beta thalassaemia, Hb SC disease). It is one of the most common haemoglobinopathies, especially in Middle Eastern countries. The hallmarks of SCD are recurrent vaso-occlusive crises and haemolytic anaemia. Vaso-occlusive crises manifest as acute pain crises, acute chest syndrome and priapism - they are mainly caused by obstructions of the microcirculation and lead to tissue hypoxia and severe pain.[1][2][3]Priapism is defined as a persistent erection of the penis that is not associated with sexual interest or desire. It can occur with low flow (ischaemic, vaso-occlusive) or high flow (non-ischaemic). In some series, it is estimated that 35 to 45 per cent of men with sickle cell disease (SCD) are affected by priapism. Ischaemic episodes lasting ≥4 hours (severe episodes) are of particular concern as they carry a high risk of permanent tissue damage from penile compartment syndrome. There is another vriant of ischaemic priapism, known as stuttering priapism, which is characterised by brief, recurrent episodes of transient, self-limited priapism.[4][5]Recent therapeutic advances have seen the approval of crizanlizumab, a monoclonal antibody targeting P-selectin, by the FDA in 2019 for reducing the frequency of SCD-related vaso-occlusive crises. Nonetheless, the efficacy of crizanlizumab in managing SCD-associated priapism has yet to be thoroughly investigated, underscoring a vital area for further clinical exploration [6].

Duddingtonia flagrans, a nematode-eating fungus, is an effective component of animal parasitic nematode biocontrol agents. In the dried formulation, the majority of spores are in an endogenous dormant state. This study focuses on dormant chlamydospore and non-dormant chlamydospore of D. flagrans to investigate the differences in cAMP and protein content between the two types of spores. In this study, cAMP and soluble proteins were extracted from the non-dormant chlamydospore and dormant chlamydospore of D. flagrans isolates SDH035 and DH055, respectively. The cAMP Direct Immunoassay Kit and Bradford protein concentration assay kit (Coomassie brilliant blue method) were used to detect the cAMP and protein content in two types of spores. Results showed that the content of cAMP in dormant spores of both isolates was significantly higher than that in non-dormant spores (p<0.05). The protein content of dormant spores in DH055 bacteria was significantly higher than that of non-dormant spores (p<0.05). In addition, the protein content of dormant spores of the SDH035 strain was slightly higher than that of non-dormant spores, but the difference was not significant (p>0.05). The results obtained in this study provide evidence for the biochemical mechanism of chlamydospore dormancy or the germination of the nematophagous fungus D. flagrans.

Real-time ultrasound guided segmental bronchoscopic insufflation in a Tay-Sachs patient with atelectasisMatej Šapina, MD, PhD1,2,3*, Bojana Olujić, MD1,2, Tihana Nađ, MD1,2, Hrvoje Vinković, MD1,2, Zdravka Krivdić Dupan, MD1,2, Nikolina Hamidović, MD1, Mia Damašek, MD1,2, Krešimir Milas, MD1, Željko Zubčić, MD, PhD1,2, and Ivan Erić, MD, PhD1,21University hospital center Osijek, 31000 Osijek, Croatia2Medical faculty Osijek, 31000 Osijek, Croatia3Faculty of dental medicine and health Osijek, 31000 Osijek, Croatia*Corresponding author: [email protected]: +385 31 512 279Keywords: bronchoscopy, atelectasis, Tay-Sachs diseaseIntroductionTo the Editor,Atelectasis is the collapse of lung tissue and is a common problem in patients suffering from severe neurological diseases. Treatment depends on the underlying cause, and ranges from respiratory physiotherapy, mucus clearance methods, and in some cases bronchoscopic interventions. If left untreated recurrent infections may occur, along with impaired gas exchange and in the long run fibrosis of the affected area1.A female patient at the age of 3 years with Tay-Sachs disease and consequent severe global psychomotor delay and epilepsy was initially admitted due to a respiratory infection to the neuropediatric department, where she developed an epileptic status and desaturation, prompting a transfer to the Intensive Care Unit. The refractory epileptic status resolved only with several antiepileptics, which lead to intubation requiring invasive mechanical ventilation, after which the patient stabilized.An attempt to reduce sedation the next day resulted in repeated seizures. On the third day, inflammatory parameters increased, with a radiological finding suggestive of pneumonia and a large left atelectasis confirmed by ultrasound. Antibiotics were empirically started, and Moraxella catarrhalis and Adenovirus in the respiratory tract were obtained in the cultures.Lung ultrasound showed a large consolidation in the dorsal upper two thirds of the left hemithorax. Due to the size of the atelectasis, we decided to perform bedside bronchoscopy.A single use paediatric flexible bronchoscope (Ambu® aScope™ 5 Broncho) was introduced through the ETT. The tracheobronchial morphology did not show any obstructions. We applied our recently published modified segmental insufflation technique, however without the use of surfactant2.First, a bronchoalveolar lavage was performed for microbiological and cytological analysis, followed by ultrasound guided bronchoscopic treatment of the affected area. The patient was positioned on the right lateral decubitus position. As described previously, a cuff pressure manometer (AG Cuffill Cuff) and a 50 ml syringe were attached to a three-way stopcock connected to the bronchoscope’s working channel. Pressure controlled segmental insufflation of the lingula and upper lobe was performed directly observing an aeration of the atelectatic areas on the ultrasound with no complications.Subsequent ultrasound monitoring resulted in total expansion of the affected lung and resolution of inflammation, confirmed radiologically (Figure 1.). The patient could be safely extubated and transferred to the wards. No reoccurrence of atelectasis was observed.ConclusionThe treatment of pediatric atelectasis poses a challenge, with limited approaches available and a lack of evidence-based guidelines to guide clinical decision-making. A question that remains to be answered is not only the mode of treatment, but timing. Even with bronchoscopic treatment, different methods exist. In obstructive atelectasis, the approach is simple - to eliminate the obstruction, however, nonobstructive atelectasis remain challenging. Bronchoscopic lung insufflation technique has been explored in adults, with limited cases reported in children3. Several case reports utilized pressure-controlled insufflation with or without surfactant in long standing atelectasis as an add on treatment2; 4.We believe that patients with severe neurological diseases require special attention regarding their susceptibility for developing atelectasis5. Our approach is early bronchoscopic pressure-controlled insufflation in non-obstructive atelectasis. Depending on the duration, we additionally instill surfactant in long standing ones.Ultrasound is recently being used in lung recruitment maneuvers to monitor lung expansion, however, it was only recently reported to be utilized for segmental insufflation monitoring in a spinal muscular atrophy type I patient4. However, to our best knowledge, our case report is the first successful use on a Tay-Sachs patient using real time ultrasound monitoring during pressure-controlled segmental bronchoscopic insufflation. The benefits of ultrasound guidance is the direct visualisation of lung expansion reducing the need for fluoroscopic radiation exposure of visualisation and further monitoring. Besides it increases the safety of the procedure allowing for detection of development of pneumothorax.In conclusion, pressure controlled real-time ultrasound guided bronchoscopic segmental insufflation, with its low-cost, lightweight, and flexible setup, seems to be a safe and promising new modality for treatment of non-obstructive atelectasis, especially in children requiring complex care.FIGURESFigure 1. On the left a large left sided atelectasis can be seen causing the mediastinal shift. On the right complete regression of the atelectasis is observed before extubatingReferences1. Ogake S, Bellinger C. 2020. Role of bronchoscopy in atelectasis. Clinical Pulmonary Medicine. 27(1):30-32.2. Šapina M, Olujic B, Nađ T, Vinkovic H, Dupan ZK, Bartulovic I, Milas K, Kos M, Divkovic D, Zubčić Z. 2023. Bronchoscopic treatment of pediatric atelectasis: A modified segmental insufflation‐surfactant instillation technique. Pediatric Pulmonology.3. Abu‐Hasan MN, Chesrown SE, Jantz MA. 2013. Successful use of bronchoscopic lung insufflation to treat left lung atelectasis. Pediatric Pulmonology. 48(3):306-309.4. Esteban IA, Osona B, Ballestín AS, Rubio CC, de Mendiola JMFP, Gómez VA, López ME, Vicente JCDC. 2024. Bronchoscopic segmental alveolar recruitment in a patient with spinal muscular atrophy and massive atelectasis. Pediatric pulmonology.5. St‐Laurent A, Zysman‐Colman Z, Zielinski D. 2022. Respiratory prehabilitation in pediatric anesthesia in children with muscular and neurologic disease. Pediatric Anesthesia. 32(2):228-236.

In this article we present a new method called PSF-Radon transform algorithm. This algorithm consists on recovering the instrument point spread function (PSF) from the Radon tranform (in the line direction axis) of the Line Spread function (that is, the image of a line). We present the method and tested with synthetic images, and real images from macro lens camera and microscopy. A stand-alone program along with a tutorial is available, for any interested user, in [? ] .

Connectivity and data exchange are key features of Industry 4.0. In this paradigm, (Industrial) Internet of Things ((I)IoT) devices are a vital component facilitating the collection and transmission of environmental data from the physical sys- tem to the central station for processing and analysis(Digital Twin). However, although (I)IoT devices play a critical role in this process, they are not inherently equipped to run strong encryption mechanisms to secure the data they transmit over wired or wireless channels. This research aims to explore the potential of Digital Twins (DT) in securing Industry 4.0 appli- cations and the security mechanism employed to ensure con- fidentiality, integrity, and authentication of data communi- cated between (I)IoT and DT through a Systematic Literature Review (SLR). This systematic literature review, based on the analysis of 67 papers published between 2018 and 2023, un- derscores the evolving significance of Digital Twin technol- ogy, particularly within the ambit of Industry 4.0. The find- ings illuminate the pervasive influence of Digital Twin tech- nology across multiple industrial sectors. The result SLR re- vealed that DT is growing and being widely adopted as a se- curity tool particularly in Industry 4.0 using enabling tech- nology like machine learning, data analytics, blockchain, and 5G networks to provide security solutions such as intrusion detection, vulnerability assessment, cyber range, and threat intelligence.

Translation of messenger RNA (mRNA) in bacteria occurs in the steps of initiation, elongation, termination and ribosome recycling. The initiation step comprises multiple stages and uses a special transfer RNA (tRNA) called initiator tRNA (i-tRNA), which is first aminoacylated and then formylated using methionine and N 10-formyl-tetrahydrofolate (N 10-fTHF), respectively. Both methionine and N 10-fTHF are produced via one-carbon metabolism, linking translation initiation with active cellular metabolism. The fidelity of i-tRNA binding to the ribosomal peptidyl-site (P-site) is attributed to the structural features in its acceptor stem, and the highly conserved three consecutive G-C base pairs (3GC pairs) in the anticodon stem. While the acceptor stem region is important in formylation of the amino acid attached to i-tRNA and its initial binding to the P-site, the 3GC pairs are crucial in transiting i-tRNA through various stages of initiation. We utilized the feature of 3GC pairs to investigate the nuanced layers of scrutiny that ensure fidelity of translation initiation through i-tRNA abundance and its interactions with the components of the translation apparatus. We discuss the importance of i-tRNA in the final stages of ribosome maturation, as also the roles of the Shine-Dalgarno sequence, ribosome heterogeneity, initiation factors, ribosome recycling factor and coevolution of the translation apparatus in orchestrating a delicate balance between the fidelity of initiation and/or its leakiness to generate proteome plasticity in cells to confer growth fitness advantages in response to the dynamic nutritional states.

Recent declines in insect abundances, especially populations of wild pollinators, pose a threat to many natural and agricultural ecosystems. Traditional species monitoring relies on morphological character identification and is inadequate for efficient and standardized surveys. DNA barcoding has become a standard approach for molecular identification of organisms, aiming to overcome the shortcomings of traditional species monitoring. However, its efficacy depends on the completeness of reference databases. Large DNA barcoding efforts are (almost entirely) lacking in many European countries, and such patchy data limit Europe-wide analyses of precisely how to apply DNA barcoding in wild bee identification. Here, we advance towards an effective molecular identification of European wild bees. We conducted a high-effort survey of wild bees in Slovenia, a country where central Europe meets the Balkan peninsula, and DNA barcoded all collected morpho-species. For global analyses, we complemented our DNA barcode dataset with all relevant European species and conducted a global analyses of species delimitation, general and genus-specific barcoding gaps, and examined the error-rate in DNA data repositories. We found that i) a sixth of all specimens from Slovenia could not be reliably identified, ii) species delimitation methods show numerous systematic problems, iii) there is no general barcoding gap across all bees, iv) the barcoding gap is genus-specific, but only after curating for errors in DNA data repositories. Intense sampling and barcoding efforts in underrepresented regions and strict curation of DNA barcode repositories are needed to enhance the use of DNA barcoding for identification of wild bees.

With the discovery of event-related potentials elicited by errors more than thirty years ago, a new avenue of research on performance monitoring, cognitive control, and decision making was opened. Since then, the field has developed and expanded fulminantly. After a brief overview on the EEG correlates of performance monitoring, this article reviews recent advancements in the field of performance monitoring based on single-trial analyses using independent component analysis, multiple regression, and multivariate pattern classification. Given the close interconnection between performance monitoring and reinforcement learning, computational modeling and model-based EEG analyses have made a particularly strong impact. The reviewed findings demonstrate that error- and feedback-related EEG dynamics represent variables reflecting how performance monitoring signals are weighted and transformed into an adaptation signal that guides future decisions and actions. The model-based single-trial analysis approach goes far beyond conventional peak-and-trough analyses of event-related potentials and enables testing mechanistic theories of performance monitoring, cognitive control and decision making.

An 11-year-old boy with Lowe syndrome developed secondary sexual characteristics within a few weeks, suggestive of precocious puberty. His blood tests were positive for serum-human chorionic gonadotropin, and imaging revealed a right thymic lobe mass containing small cystic lesions. A germ cell tumor with malignant potential was suspected. Thus, we performed an extended thymectomy with mediastinal lymph node dissection and confirmed germinoma of the right thymic lobe without lymph node metastasis; the patient underwent four courses of chemotherapy. Follow-up evaluations indicated no recurrence. Thus, we present a highly rare case report of thymic germinoma complicated by Lowe syndrome.

Humid dunes slacks are a highly threatened habitat, listed as vulnerable in the EU habitat red list. Accelerated successional processes in dune systems have resulted in the loss and degradation of ideal conditions for specialist dune slack species, hence the need for conservation management. This study investigated the restoration of a dune slack in North Wales, UK, where soil removal was undertaken to reinstate nutrient-poor open damp conditions. It assessed the outcomes of the management for dune slack communities over the 18 years since restoration. It also assessed the differences between restored and unrestored areas of dune slacks. Since the restoration was carried out in winter 2004/05 surveys of fixed quadrats were undertaken most years until 2022 with an additional survey in 2022 of the adjacent un-restored parts of the dune slacks. Species diversity and plant community composition changes over time were assessed using multivariate analysis and indicator species analysis. Comparisons between the restored and unrestored areas of the dune slacks were also made. Ellenberg Indicator Values (EIVs) were examined to identify potential environmental drivers of post management successional changes. After 18 years a species rich and diverse dune slack community exists. This is absent from the unrestored area. The establishment of species occurred rapidly in the first three years, followed by continued but slower increases in species richness and diversity. This is due to the addition of new species without losses of established species. EIVs show no significant difference over time suggesting the restored areas are still at an early stage of succession. Distinct stages of community change since restoration are characterised by different indicator species. Plants are likely to be largely recruited from an existing seed bank. Restoration by turf removal may be suitable for other low nutrient, species rich habitats dependent upon fluctuating groundwater levels.

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Response to Correspondence ALL-2023-01107 “Short-course subcutaneous treatment with PQ Grass strongly improves symptom and medication scores in grass allergy”P.J. de Kam1, S. Zielen2, J.A. Bernstein3, U. Berger4, M. Berger5, M. Cuevas6, D. Cypcar7, A. Fuhr-Horst8, W.A. Greisner9, M. Jandl10, S. Laßmann11, M. Worm12, J. Matz13, E. Sher14, C. Smith15, G.C. Steven16, R. Mösges17,18, M.H. Shamji19,20, L. DuBuske21, F. Borghese1, K. Oluwayi1, T. Zwingers1, M. Seybold1, O. Armfield1, M.D. Heath1, S.J. Hewings1, M.F. Kramer1, M.A. Skinner1Allergy Therapeutics plc, Worthing, United KingdomChildren and Adolescents Dept., Allergology, Pulmonology & Cystic fibrosis, Goethe University, Frankfurt, GermanyBernstein Clinical Research Center, LLC, Cincinnati, OH, United States of AmericaAerobiology and Pollen Research Unit, Dept. Oto-Rhino-Laryngology, Medical University Vienna, Vienna, Austria.Wiener Gesundheitsverbund, Hospital Hietzing, Department of Otorhinolaryngology, Vienna, AustriaClinic and Polyclinic of Otorhinolaryngology, University Clinic Carl Gustav Carus, TU Dresden, GermanyAllergy Partners of Western North Carolina, Asheville, NC, United States of AmericaENT Research- Institut für klinische Studien, Essen, GermanyBluegrass Allergy Research, Lexington, KY, United States of AmericaHamburger Institut für Therapieforschung GmbH, Hamburg, GermanyStudienzentrum Dr. Sabine Laßmann, Saalfeld, GermanyUniversitätsmedizin Berlin, Department of Dermatology and Allergy - Charite Campus Mitte, Berlin, GermanyChesapeake Clinical Research, Inc. White Marsh, MD, United States of AmericaAllergy Partners of New Jersey, Ocean, NJ, United States of AmericaCertified Research Associates, Cortland, NY, United States of AmericaAllergy Asthma & Sinus Center, S.C., Greenfield, WI, United States of AmericaIMSB (Institute of Computational Biology and Medical Statistics), University at Cologne, Cologne, GermanyClinCompetence, Cologne, GermanyImmunomodulation and Tolerance Group, Allergy and Clinical Immunology, Department of National Heart and Lung Institute, Imperial College London, London, United KingdomAsthma UK Centre in Allergic Mechanisms of Asthma, Imperial College London, London, United KingdomDivision of Allergy and Immunology, Department of Internal Medicine, George Washington University Hospital, Washington, DC, United States of America

Comment on “The risk assessment of uveitis after COVID-19 diagnosis”Patrick Wu,1 Chin-Yuan Yii,2 Su-Boon Yong3,4,5College of Medicine, Lake Erie College of Osteopathic Medicine, Bradenton, FL 34211, USADivision of Gastroenterology and Hepatology, Department of Internal Medicine, Landseed International Hospital, Taoyuan, TaiwanDepartment of Allergy and Immunology, China Medical University Children’s Hospital, Taichung, TaiwanDepartment of Medicine, College of Medicine, China Medical University, Taichung, TaiwanCenter for Allergy, Immunology, and Microbiome (A.I.M.), China Medical University Hospital, Taichung, Taiwan.Corresponding authors:Chin-Yuan Yii, MDDivision of Gastroenterology and Hepatology, Department of Internal Medicine, Landseed International Hospital, Taoyuan, TaiwanAddress: No.77, Guangtai Rd., Pingzhen Dist., Taoyuan City 32449, Taiwan Telephone: +886 3 494 1234Email: [email protected]. Su-Boon Yong, MD PhDDepartment of Medicine, College of Medicine, China Medical University, Taichung, TaiwanAddress: No. 2, Yuh-Der Road, Taichung City 404, TaiwanTelephone: 00886-4-22052121Email: [email protected] author:Patrick Wu, BSCollege of Medicine, Lake Erie College of Osteopathic Medicine, Bradenton, FL 34211, USAAddress: 5000 Lakewood Ranch Blvd, Bradenton, FL 34211, USATelephone: +1(301)3375805Email: [email protected] availability statement: Not applicable. This letter to the editor does not require data collection.Funding statement: Not applicable. Authorship for letter to the editor did not receive any funding.Conflict of interest disclosure: The authors do not have any conflict of interests to declare.Ethics approval statement: Not applicable.Patient consent statement: Not applicable.Permission to reproduce material from other sources: Not applicable.Clinical trial registration: Not applicable.AbstractSeveral suggestions were made for the study by Hsia et al1 regarding uveitis risk following COVID-19 diagnosis. We recommend the authors align the racial composition of study groups more closely with that of U.S. demographics. In addition, we recommend the study to include possibility of false negatives from PCR testing. Lastly, we suggest the authors to consider cases of self-limiting uveitis and relapses independent of COVID-19.Keywords: uveitis risk, COVID-19, racial composition, PCR testing, self-limiting uveitis, relapsesTo the Editor,We read with great interest the study by Hsia et al1regarding the risk assessment of uveitis after COVID-diagnosis. We appreciate the authors’ attention to detail by eliminating possible confounding variables that may contribute to uveitis development. Furthermore, we were impressed by the robust study design incorporating propensity score matching, long follow-ups, and immense study size of more than 4 million patients using the TriNetX analytics platform.Nevertheless, to enhance this study, we recommend the following considerations.First, this study utilized the US research network, covering about 92 million patients to form a COVID-19 cohort and a non-COVID-19 control group, each with 2 million patients, of which 62.5% and 62.4% were white, respectively. This underrepresents the white population by 13% compared to the 75.5% white representation in the 2022 US census. Future studies should align the racial composition of study groups more closely with national demographics.Second, the authors identified COVID-19 cases based on positive PCR tests or antibody immunoassays. Yet, Binny et al’s study in New Zealand illustrates how PCR test sensitivity fluctuates across the COVID-19 infection timeline, influenced by viral load and patient age.2 The sensitivity of PCR tests peaks at 92.7% between 4 to 5 days post-infection, then drops to 88% from 5 to 14 days, while specificity remains near 100%.2 This indicates a higher likelihood of false negatives and very low false positives in PCR testing. Highlighting this significant limitation in the discussion section would be beneficial.Third, this study excluded those diagnosed with uveitis within 6 months before COVID-19 infection, potentially overlooking undiagnosed, self-limiting cases that may resurface post-infection. 10% of intermediate uveitis cases resolve on their own, and anterior uveitis, while often self-limiting, can cause severe complications.3,4 Moreover, uveitis relapses, as reported in Grunwald et al’s study, could occur independently of COVID-19, leading to misattribution of these cases to COVID-19.5 These aspects represent potential limitations of the study that warrant discussion.In conclusion, the study by Hsia et al1 is a major milestone towards incorporating uveitis assessment among COVID-19 patients in healthcare guidelines. This study has tremendous potential to save numerous patients from glaucoma, cataracts, and permanent vision loss. To improve this study, we recommend authors to adjust study groups so that white patients are adequately represented, discuss the possibility of false negatives from PCR testing, and consider cases of self-limiting uveitis and relapses independent of COVID-19.Acknowledgements: noneReferencesHsia NY, Hsu AY, Wang YH, Li JX, Chen HS, Wei JC, Lin CJ, Tsai YY. The risk assessment of uveitis after COVID-19 diagnosis: A multicenter population-based study. J Med Virol. 2023 Oct;95(10):e29188. doi: 10.1002/jmv.29188. PMID: 37881132.Binny RN, Priest P, French NP, Parry M, Lustig A, Hendy SC, Maclaren OJ, Ridings KM, Steyn N, Vattiato G, Plank MJ. Sensitivity of Reverse Transcription Polymerase Chain Reaction Tests for Severe Acute Respiratory Syndrome Coronavirus 2 Through Time. J Infect Dis. 2022 Dec 28;227(1):9-17. doi: 10.1093/infdis/jiac317. PMID: 35876500; PMCID: PMC9384503.Maggon R. INTERMEDIATE UVEITIS PARS PLANITIS. Med J Armed Forces India. 2001 Jan;57(1):84-5. doi: 10.1016/S0377-1237(01)80106-4. Epub 2011 Jul 21. PMID: 27365593; PMCID: PMC4925061.Islam N, Pavesio C. Uveitis (acute anterior). BMJ Clin Evid. 2010 Apr 8;2010:0705. PMID: 21736765; PMCID: PMC2907596.Grunwald L, Newcomb CW, Daniel E, Kaçmaz RO, Jabs DA, Levy-Clarke GA, Nussenblatt RB, Rosenbaum JT, Suhler EB, Thorne JE, Foster CS, Kempen JH; Systemic Immunosuppressive Therapy for Eye Diseases Cohort Study. Risk of relapse in primary acute anterior uveitis. Ophthalmology. 2011 Oct;118(10):1911-5. doi: 10.1016/j.ophtha.2011.02.044. Epub 2011 Jun 16. PMID: 21680024; PMCID: PMC3179829.

POLE codes for DNA polymerase epsilon (Pol ε) and variants of Pol ε catalytic subunit 1 can be pathogenic. We recently reported a novel POLE gene variant (p.[D1131fs];[T1891del]) which leads to bone marrow failure in two Japanese sisters. Here, we describe the successful course of hematopoietic stem cell transplantation of these two sisters. Both cases were born with congenital anemia and remained transfusion dependent. Their bone marrow showed gradually proceeding trilineage dysplasia. They both underwent HCT from an unrelated bone marrow donor and successfully achieved engraftment. Ten and eight years have passed respectively, and they are doing well without transfusion.