Publications by authors named "P G Subramanian"

544 Publications

Importance of conventional cytogenetics in the identification of ins(19;X)(q13.1;p11.2q28) and t(1;11)(q10;p10), both, novel cytogenetic abnormalities in a pediatric AML case.

Cancer Genet 2021 Mar 21;256-257:17-20. Epub 2021 Mar 21.

Department of Medical Oncology, Tata Memorial Hospital, Parel, Mumbai, India; Homi Bhabha National Institute (HBNI), Anushaktinagar, Mumbai, India.

Acute Myeloid Leukemia (AML) is a heterogeneous disease with respect to morphology, immunophenotype, chromosomal abnormalities and genetic lesions. While a majority of AML cases harbour recurrent chromosomal abnormalities, several rare, apparently unique or novel aberrations may be identified by conventional cytogenetics. In fact, with the prognostic relevance of chromosomal abnormalities, and with the advent of new-age, target-specific therapy, identifying such aberrations becomes vital. In this study, we present a case of pediatric AML with ins(19;X)(q13.1;p11.2q28) and t(1;11)(q10;p10), both, novel, previously unreported chromosomal abnormalities in AML. Post induction, both these clonal cytogenetic abnormalities persisted. The documentation of this case will help determine the significance of these cytogenetic abnormalities. Also, this case exemplifies the importance of cytogenetics in the complete characterization and risk stratification of AML patients.
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http://dx.doi.org/10.1016/j.cancergen.2021.03.002DOI Listing
March 2021

Melatonin improves cognitive behavior, oxidative stress, and metabolism in tumor-prone lethal giant larvae mutant of Drosophila melanogaster.

Arch Insect Biochem Physiol 2021 Apr 5:e21785. Epub 2021 Apr 5.

Department of Molecular Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

Mutant lethal giant larvae (lgl) flies (Drosophila melanogaster) are known to develop epithelial tumors with invasive characteristics. The present study has been conducted to investigate the influence of melatonin (0.025 mM) on behavioral responses of lgl mutant flies as well as on biochemical indices (redox homeostasis, carbohydrate and lipid metabolism, transaminases, and minerals) in hemolymph, and head and intestinal tissues. Behavioral abnormalities were quantitatively observed in lgl flies but were found normalized among melatonin-treated lgl flies. Significantly decreased levels of lipid peroxidation products and antioxidants involved in redox homeostasis were observed in hemolymph and tissues of lgl flies, but had restored close to normalcy in melatonin-treated flies. Carbohydrates including glucose, trehalose, and glycogen were decreased and increased in the hemolymph and tissues of lgl and melatonin-treated lgl flies, respectively. Key enzymes of carbohydrate metabolism showed a significant increment in their levels in lgl mutants but had restored close to wild-type baseline levels in melatonin-treated flies. Variables of lipid metabolism showed significantly inverse levels in hemolymph and tissues of lgl flies, while normalization of most of these variables was observed in melatonin-treated mutants. Lipase, chitinase, transaminases, and alkaline phosphatase showed an increment in their activities and minerals exhibited decrement in lgl flies; reversal of changes was observed under melatonin treatment. The impairment of cognition, disturbance of redox homeostasis and metabolic reprogramming in lgl flies, and restoration of normalcy in all these cellular and behavioral processes indicate that melatonin could act as oncostatic and cytoprotective agents in Drosophila.
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http://dx.doi.org/10.1002/arch.21785DOI Listing
April 2021

Embolic abducens palsy and central retinal artery occlusion in a patient with COVID-19.

J Neuroophthalmol 2021 Mar 30. Epub 2021 Mar 30.

Sue Anschutz-Rodgers University of Colorado Eye Center and Departments of Ophthalmology Neurology Neurosurgery, University of Colorado School of Medicine, Aurora, CO Division of Ophthalmology, Uniformed Services University of the Health Sciences, Bethesda, MD.

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http://dx.doi.org/10.1097/WNO.0000000000001291DOI Listing
March 2021

Ocular, Orbital, and Sinus Damage Induced by a Fierce Fishhook Trauma.

Asia Pac J Ophthalmol (Phila) 2021 Mar 23;10(2):226-227. Epub 2021 Mar 23.

Ophthalmology Department, University of Colorado School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1097/APO.0000000000000375DOI Listing
March 2021

Meningiomas of the Planum Sphenoidale and Tuberculum Sella.

J Neurol Surg B Skull Base 2021 Feb 12;82(1):72-80. Epub 2021 Feb 12.

Department of Ophthalmology, Sue Anschutz-Rodgers UCHealth Eye Center, University of Colorado School of Medicine, Aurora, Colorado, United States.

Patients with meningiomas of the planum sphenoidale and tuberculum sella often present with insidious vision loss in one or both eyes as the only sign or symptom of their disease, although other sensory, oculomotor, and even endocrine abnormalities may be seen in a minority of cases. Incidentally discovered tumors also are common, as patients may undergo neuroimaging for unrelated symptoms or events. Depending on the size and orientation of the tumor, central vision loss from optic nerve compression may be a later sign, and loss of peripheral vision in one or both eyes may not be recognized until it has progressed to areas closer to fixation. A thorough neuroophthalmologic assessment including visual field testing will help to define the extent of optic pathway involvement. Both fundus examination and optical coherence tomography of the retinal nerve fiber layer and macular ganglion cell complex will aid in determining prognosis after treatment of the tumor. Orbital surgery rarely is indicated as primary therapy for meningiomas in this location, and surgical resection or debulking is usually pursued before consideration is given to radiation therapy. Because of the long-term risk of residual tumor growth or recurrence, neuroophthalmic surveillance along with serial neuroimaging is required for years after tumor resection and/or radiation therapy.
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http://dx.doi.org/10.1055/s-0040-1722703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987389PMC
February 2021

Mismatch in Supply and Demand for Neuro-Ophthalmic Care.

J Neuroophthalmol 2021 Mar 23. Epub 2021 Mar 23.

Department of Ophthalmology (AD), Wills Eye Hospital, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania; Departments of Ophthalmology, Neurology, and Neurosurgery (PSS), Sue Anschutz-Rodgers UCHealth Eye Center, University of Colorado School of Medicine, Aurora, Colorado; Institute for Minority Health Research (MSB), University of Illinois College of Medicine, Chicago, Illinois; Departments of Ophthalmology and Neurology (MLM), Wills Eye Hospital, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania; Department of Neurology (PCC), Johns Hopkins School of Medicine, Baltimore, Maryland; and Departments of Ophthalmology and Neurosciences (LPF), Rutgers-New Jersey Medical School, Newark, New Jersey.

Background: Previous research suggests the number of neuro-ophthalmologists in the United States may be below a level that provides sufficient access to neuro-ophthalmic care in much of the United States. However, national estimates of the amount of clinical time spent on neuro-ophthalmology are lacking.

Methods: The North American Neuro-Ophthalmology Society administered a survey on professional time allocation to its active members. Survey response was 95%. The survey characterized the hours each week each respondent allocated to overall work, clinical work, clinical work in ophthalmology/neurology, and clinical work in neuro-ophthalmology specifically. The survey additionally collected information regarding demographics, current wait times to be seen for new patients, and the difference in clinical time spent in neuro-ophthalmology spent between the current day compared with that shortly after completing clinical training. Linear regression was used to identify potential relationships between the above and average wait time.

Results: On average, responding physicians spent 70% of their clinical time on neuro-ophthalmology. In 6 states, there were no reported practicing neuro-ophthalmologists, and in only 8 states was the clinical full-time equivalent to population ratio below the suggested threshold of 1 for every 1.2 million. The median wait time for a new patient was 6 weeks. This wait time was associated with the fraction of clinical time spent in neuro-ophthalmology (0.2 weeks longer wait for a 10 percentage point increase in the fraction of time spent in neuro-ophthalmology; P = 0.02), and suggestively associated with training (training in ophthalmology was associated with 1.0 week shorter wait time; P = 0.06).

Conclusion: The survey suggests that neuro-ophthalmologists are unable to see patients in a timely manner and a decreasing number of clinicians are entering the field. Future interventions should be considered to incentivize neuro-ophthalmology training in ophthalmology and neurology residents such that the United States population is able to appropriately access neuro-ophthalmic care.
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http://dx.doi.org/10.1097/WNO.0000000000001214DOI Listing
March 2021

Neuro-Ophthalmology at American Academy of Ophthalmology 2020 Virtual.

J Neuroophthalmol 2021 Mar 23. Epub 2021 Mar 23.

Departments of Ophthalmology, Sue Anschutz-Rodgers University of Colorado Eye Center, Neurology, and Neurosurgery, University of Colorado School of Medicine, Aurora, Colorado.

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http://dx.doi.org/10.1097/WNO.0000000000001209DOI Listing
March 2021

Persistent Globe Flattening in Astronauts following Long-Duration Spaceflight.

Neuroophthalmology 2021 3;45(1):29-35. Epub 2020 Sep 3.

Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA.

Posterior globe flattening has been well-documented in astronauts both during and after long-duration space flight (LDSF) and has been observed as early as 10 days into a mission on the International Space Station. Globe flattening (GF) is thought to be caused by the disc centred anterior forces created by elevated volume and/or pressure within the optic nerve sheath (ONS). This might be the result of increased intracranial pressure, increased intraorbital ONS pressure from compartmentalisation or a combination of these mechanisms. We report posterior GF in three astronauts that has persisted for 7 years or more following their return from LDSFs suggesting that permanent scleral remodelling may have occurred.
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http://dx.doi.org/10.1080/01658107.2020.1791189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7946045PMC
September 2020

A call for the universal acceptance of the modified Milan system for reporting salivary gland cytopathology.

Oral Oncol 2021 Mar 8:105255. Epub 2021 Mar 8.

Department of Otorhinolaryngology and Head-Neck Surgery, Teaching Block, All India Institute of Medical Sciences, New Delhi 110029, India.

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http://dx.doi.org/10.1016/j.oraloncology.2021.105255DOI Listing
March 2021

A novel case of intrachromosomal amplification and insertion of RUNX1 on derivative chromosome 2 in pediatric AML.

Cancer Genet 2021 Jun 15;254-255:65-69. Epub 2021 Feb 15.

Department of Pediatric Oncology, Tata Memorial Hospital, Dr. E. Borges Road, Parel. Mumbai 400012, India; Cancer Cytogenetics Department, Room No. 6, CCE building, Advanced Centre for Treatment, Research & Education in Cancer (ACTREC), Tata Memorial Centre, Sector-22, Kharghar, Navi Mumbai 410210 India. Electronic address:

Intrachromosomal amplification of RUNX1 gene on chromosome 21 (iAMP21) is a rare occurrence in acute myeloid leukemia (AML). Herein, we describe a case of AML with amplification of RUNX1 and its insertion on chromosome 2 detected by conventional karyotyping and confirmed by metaphase FISH. A six-year-old female was diagnosed as acute myeloid leukemia with monocytic differentiation. The patient's bone marrow revealed 74% blasts which were MPO negative. Conventional karyotyping revealed a complex karyotype, with rearrangements in chromosomes 1, 2, 7, 8 and hsr(21). FISH on interphase cells with LSI RUNX1-RUNX1T1 dual colour dual fusion translocation probe showed 6-7 copies of RUNX1 signal. Metaphase FISH with LSI RUNX1-RUNX1T1 probe confirmed amplification of RUNX1 and insertion of amplified RUNX1 sequences on long arm of chromosome 2. Induction chemotherapy was initiated, however, the patient died within one month of diagnosis suggesting poor outcome associated with this novel finding. Insertion of amplified RUNX1 on another chromosome has not yet been reported so far.
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http://dx.doi.org/10.1016/j.cancergen.2021.02.004DOI Listing
June 2021

Applications of Artificial Intelligence for Retinopathy of Prematurity Screening.

Pediatrics 2021 Mar;147(3)

Athinoula A. Martinos Center for Biomedical Imaging and Department of Radiology, Massachusetts General Hospital, Charlestown, Massachusetts.

Objectives: Childhood blindness from retinopathy of prematurity (ROP) is increasing as a result of improvements in neonatal care worldwide. We evaluate the effectiveness of artificial intelligence (AI)-based screening in an Indian ROP telemedicine program and whether differences in ROP severity between neonatal care units (NCUs) identified by using AI are related to differences in oxygen-titrating capability.

Methods: External validation study of an existing AI-based quantitative severity scale for ROP on a data set of images from the Retinopathy of Prematurity Eradication Save Our Sight ROP telemedicine program in India. All images were assigned an ROP severity score (1-9) by using the Imaging and Informatics in Retinopathy of Prematurity Deep Learning system. We calculated the area under the receiver operating characteristic curve and sensitivity and specificity for treatment-requiring retinopathy of prematurity. Using multivariable linear regression, we evaluated the mean and median ROP severity in each NCU as a function of mean birth weight, gestational age, and the presence of oxygen blenders and pulse oxygenation monitors.

Results: The area under the receiver operating characteristic curve for detection of treatment-requiring retinopathy of prematurity was 0.98, with 100% sensitivity and 78% specificity. We found higher median (interquartile range) ROP severity in NCUs without oxygen blenders and pulse oxygenation monitors, most apparent in bigger infants (>1500 g and 31 weeks' gestation: 2.7 [2.5-3.0] vs 3.1 [2.4-3.8]; = .007, with adjustment for birth weight and gestational age).

Conclusions: Integration of AI into ROP screening programs may lead to improved access to care for secondary prevention of ROP and may facilitate assessment of disease epidemiology and NCU resources.
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http://dx.doi.org/10.1542/peds.2020-016618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924138PMC
March 2021

Outcomes and prognostic factors in adolescents and young adults with ALL treated with a modified BFM-90 protocol.

Blood Adv 2021 Mar;5(5):1178-1193

Adult Hematolymphoid Unit.

The use of pediatrics-inspired protocols in adolescent and young adult (AYA) acute lymphoblastic leukemia (ALL) results in superior survival compared with the adult protocols. Pediatrics-inspired protocols carry an increased risk of toxicity and treatment-related mortality in low resource settings, which can offset the potential benefits. We studied the outcomes and prognostic factors in the treatment of AYA ALL with a pediatrics-inspired regimen. We retrieved data regarding demographics, investigations, treatment details, and toxicities from the electronic medical records of patients diagnosed with ALL in the 15- to 25-year-old age group who were initiated on a modified Berlin-Frankfurt-Münster 90 (BFM-90) protocol between January 2013 and December 2016 at the Tata Memorial Centre. A total of 349 patients in the 15- to 25-year-old age group were treated with a modified BFM-90 protocol. The use of this pediatrics-inspired protocol resulted in a 3-year event-free survival (EFS) and overall survival (OS) of 59.4% and 61.8%, respectively. Only 15 patients underwent an allogeneic stem cell transplant. Minimal residual disease (MRD) persistence postinduction emerged as the only factor predictive of poor outcomes. A modified BFM-90 protocol is an effective and safe regimen for AYA ALL with an OS and EFS comparable to the published literature.
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http://dx.doi.org/10.1182/bloodadvances.2020003526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948264PMC
March 2021

Evaluation of cytogenetic response in CML patients with variant Philadelphia translocation.

Asia Pac J Clin Oncol 2021 Feb 25. Epub 2021 Feb 25.

Homi Bhabha National Institute (HBNI), Anushaktinagar, Mumbai, India.

Background And Aim: Molecular mechanism of translocation and outcome in variant chronic myeloid leukaemia (vCML) has been a topic of debate. While several cytogenetic studies suggest a low response to Imatinib Mesylate, others demonstrate a similar disease course in both classical and vCML. Besides, many studies comprehensively also link tyrosine kinase domain (TKD) mutations with aggressive clinical outcome. Thus, we aim to study the molecular mechanism of translocation, identify the third partner chromosomes and comment on the disease course and clinical outcome.

Method: We cytogenetically characterised 25 vCML cases to determine the third partner chromosome, mechanism of translocation and prognostic outcome. We also compared vCML cases with and without TKD mutation to most appropriately outline the clinical consequence and ascertain the potent cause of unresponsiveness to treatment.

Results: Third partner chromosome in variant translocation was defined by conventional and molecular cytogenetics. Although in our study most cases showed inadequate clinical response attributable to TKD mutation rather than variant translocation, we observed an inferior outcome in cases involving chromosome 5 as the third partner.

Conclusion: Thus, we conclude that characterising and reporting new cases of variant translocations, involving various different chromosomes as third partner (with different breakpoints) by cytogenetics, will lead to a better understanding of the disease. To the best of our knowledge, this kind of delineate study has not been applied to precisely comment on the prospects of cytogenetically characterised vCML.
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http://dx.doi.org/10.1111/ajco.13522DOI Listing
February 2021

Basic chronobiology: what do sleep physicians need to know?

Sleep Sci 2020 Oct-Dec;13(4):256-266

Somnogen Canada Inc., Corporate Management - Toronto - Ontario - Canada.

Sleep is an essential physiological process, which profoundly affects a wide range of biological activities. It is now known that sleep supports myriad vital functions in the central nervous system. This includes neural plasticity, learning, memory, cognition and emotional regulation. Additionally, it affects basic processes such as cardiovascular, immunological and metabolic activity. Evidence from multiple lines of research has thus shown that good quality of sleep is essential for both survival and optimal functioning of life. Considerable evidence also supports the conclusion that even minimal dysfunctions in circadian regulation can significantly disrupt sleep and broadly affect body physiology. As a consequence, it is now appreciated that the therapy of sleep disorders is more complex than was once thought. At present, several clinical disciplines have recognized the significance of the biological clock in health and illness, and are incorporating this knowledge into treatment programs. Recent decades have seen the emergence of chronotherapies, i.e., treatment strategies that are aimed at producing adjustments in the circadian clock. The final objective of these approaches is to affect basic cellular and physiological processes, which in turn may be at the root of disorders such as physiological aging, immune functioning, metabolic activity, and psychiatric disturbance. It is suggested that the integration of chronobiological perspectives into many mainstream medical disciplines would be of significant benefit, both for the reduction of the prevalence of diseases and their treatment. This review considers the physiology of sleep and the importance of timekeeping mechanisms in the regulation of overall health.
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http://dx.doi.org/10.5935/1984-0063.20200026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7856659PMC
February 2021

The Mayo cover washout technique.

Ann R Coll Surg Engl 2021 Feb;103(2):141-142

Barnet Hospital, London, UK.

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http://dx.doi.org/10.1308/rcsann.2020.7054DOI Listing
February 2021

Clinical impact of panel-based error-corrected next generation sequencing versus flow cytometry to detect measurable residual disease (MRD) in acute myeloid leukemia (AML).

Leukemia 2021 Feb 8. Epub 2021 Feb 8.

Haematopathology Laboratory, ACTREC, Tata Memorial Centre, Navi Mumbai, India.

We accrued 201 patients of adult AML treated with conventional therapy, in morphological remission, and evaluated MRD using sensitive error-corrected next generation sequencing (NGS-MRD) and multiparameter flow cytometry (FCM-MRD) at the end of induction (PI) and consolidation (PC). Nearly 71% of patients were PI NGS-MRD and 40.9% PC NGS-MRD (median VAF 0.76%). NGS-MRD patients had a significantly higher cumulative incidence of relapse (p = 0.003), inferior overall survival (p = 0.001) and relapse free survival (p < 0.001) as compared to NGS-MRD patients. NGS-MRD was predictive of inferior outcome in intermediate cytogenetic risk and demonstrated potential in favorable cytogenetic risk AML. PI NGS-MRD patients had a significantly improved survival as compared to patients who became NGS-MRD subsequently indicating that kinetics of NGS-MRD clearance was of paramount importance. NGS-MRD identified over 80% of cases identified by flow cytometry at PI time point whereas FCM identified 49.3% identified by NGS. Only a fraction of cases were NGS-MRD but FCM-MRD. NGS-MRD provided additional information of the risk of relapse when compared to FCM-MRD. We demonstrate a widely applicable, scalable NGS-MRD approach that is clinically informative and synergistic to FCM-MRD in AML treated with conventional therapies. Maximum clinical utility may be leveraged by combining FCM and NGS-MRD modalities.
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http://dx.doi.org/10.1038/s41375-021-01131-6DOI Listing
February 2021

Indium-Catalyzed Aromative Spiro Coupling of Quinones with Oxindoles for Highly Functionalized Xanthenes as Efficient Fluorophores.

Org Lett 2021 Feb 2;23(4):1383-1387. Epub 2021 Feb 2.

School of Chemical Engineering, Yeungnam University, Gyeongsan 38541, Republic of Korea.

A convenient and an efficient protocol for the assembly of diverse xanthenes bearing a biologically interesting oxindole nucleus is developed by utilizing the In(III)-catalyzed spiro coupling of 1,4-benzoquinones or 1,4-naphthoquinones with oxindoles. This novel protocol proceeds via a cascade of double Michael additions and intramolecular cyclization. The synthesized compounds have potential use as fluorophores for the selective imaging of heavy metals in living cells.
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http://dx.doi.org/10.1021/acs.orglett.1c00042DOI Listing
February 2021

Clinical course of severe COVID19 treated with tocilizumab and antivirals post-allogeneic stem cell transplant with extensive chronic GVHD.

Transpl Infect Dis 2021 Feb 1:e13576. Epub 2021 Feb 1.

Department of Medical Oncology, ACTREC - Tata Memorial Centre, Navi Mumbai, Maharashtra, India.

Recipients of allogeneic hematopoietic stem cell transplantation (allo-HSCT) are an immunocompromised group who are likely to develop severe complications and mortality because of coronavirus disease 2019 (COVID-19). We report here a 61-year-old male patient of primary myelofibrosis who underwent an allo-HSCT 6 years earlier, had chronic graft-versus-host disease (cGVHD) involving the liver, lung, eyes, and skin, (with recurrent episodes of pulmonary infections) who developed severe COVID-19. The patient was treated with tocilizumab, and a combination of lopinavir/ritonavir, ribavirin, interferon-β1b. He was discharged after 31 days with full recovery. Tocilizumab, a humanized monoclonal antibody against IL6, has been shown to benefit respiratory manifestations in severe COVID19. However, this is first report, to our knowledge, of its use and benefit in a post HSCT recipient.
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http://dx.doi.org/10.1111/tid.13576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994986PMC
February 2021

Acute Complete Oculomotor Nerve Palsy in a Young Male Due to a Skull Base Myofibroma.

J Neuroophthalmol 2021 Jan 11. Epub 2021 Jan 11.

Ophthalmology Department (TTH, NHTL), Hanoi Medical University, Hanoi, Vietnam; Ophthalmology Unit (TTH, NHTL), Hanoi Medical University Hospital, Hanoi, Vietnam; Save Sight Institute (TTH), the University of Sydney School of Medicine, Sydney, Australia; Neurology Unit (TVL), Hanoi Medical University Hospital, Hanoi, Vietnam; Neurosurgery Department I (DT), Viet Duc Hospital, Hanoi, Vietnam; Pathology Department (TDH), Viet Duc Hospital, Hanoi, Vietnam; and Ophthalmology Department (PSS), University of Colorado School of Medicine, Aurora, Colorado.

Abstract: A 25-year-old male patient visited the ophthalmology clinic because of upper eye lid ptosis in the right eye, binocular double vision, and light sensitivity. He was diagnosed with a complete third nerve palsy caused by a skull base myofibroma, a rare clinical entity that has not been described before in oculomotor nerve palsy.
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http://dx.doi.org/10.1097/WNO.0000000000001177DOI Listing
January 2021

Contralateral Ocular Manifestations of a Carotid Cavernous Fistula Associated With Primitive Persistent Trigeminal Artery.

J Neuroophthalmol 2021 Jan 11. Epub 2021 Jan 11.

Ophthalmology Department (TTH, VTP), Hanoi Medical University, Vietnam; Ophthalmology Unit (TTH), Hanoi Medical University Hospital, Vietnam; Save Sight Institute (TTH), the University of Sydney School of Medicine, Australia; Radiology Department (CNN), Hanoi Medical University Hospital, Vietnam; Oculoplastic and Cosmesis Surgery Department (AQN), Vietnam National Eye Hospital; Cardiology Center (HLN), Hanoi Medical University Hospital, Vietnam; and Ophthalmology Department (PSS), University of Colorado School of Medicine.

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http://dx.doi.org/10.1097/WNO.0000000000001181DOI Listing
January 2021

Validation of Whole Slide Imaging for primary surgical pathology diagnosis of prostate biopsies.

Indian J Pathol Microbiol 2021 Jan-Mar;64(1):78-83

Department of Pathology, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India.

Context: Whole slide imaging (WSI) is an important component of digital pathology which includes digitization of glass slides and their storage as digital images. Implementation of WSI for primary surgical pathology diagnosis is evolving, following various studies which have evaluated the feasibility of WSI technology for primary diagnosis.

Aims, Settings And Design: The present study was a single-center, observational study which included evaluation by three pathologists and aimed at assessing concordance on specialty-specific diagnosis and comparison of time taken for diagnosis on WSI and conventional light microscopy (CLM).

Materials And Methods: Seventy prostate core biopsy slides (reported between January 2016 and December 2016) were scanned using Pannoramic MIDI II scanner, 3DHISTECH, Budapest, Hungary, at 20× and 40×. Sixty slides were used for validation study following training with 10 slides.

Statistical Analysis Used: Intraobserver concordance for diagnosis between the two platforms of evaluation was analyzed using Cohen's κ statistics and intraclass correlation coefficient (ICC); observation time for diagnosis was compared by Wilcoxon signed-rank test.

Results: Interpretation on WSI using 20× and 40× was comparable with no major discordance. A high level of intraobserver agreement was observed between CLM and WSI for all three observers, both for primary diagnosis (κ = 0.9) and Grade group (κ = 0.7-0.8) in cases of prostatic adenocarcinoma. The major discordance rate between CLM and WSI was 3.3%-8.3%, which reflected the expertise of the observers. The time spent for diagnosis using WSI was variable for the three pathologists.

Conclusion: WSI is comparable to CLM and can be safely incorporated for primary histological diagnosis of prostate core biopsies.
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http://dx.doi.org/10.4103/IJPM.IJPM_855_19DOI Listing
January 2021

Expression of CD304/neuropilin-1 in adult b-cell lymphoblastic leukemia/lymphoma and its utility for the measurable residual disease assessment.

Int J Lab Hematol 2021 Jan 12. Epub 2021 Jan 12.

Department of Hematopathology Laboratory, ACTREC, Tata Memorial Center, HBNI University, Navi Mumbai, India.

Introduction: Many new markers are being evaluated to increase the sensitivity and applicability of multicolor flow cytometry (MFC)-based measurable residual disease (MRD) monitoring. However, most of the studies are limited to childhood B-cell lymphoblastic leukemia/lymphoma (B-ALL), and reports in adult B-ALL are extremely scarce and limited to small cohorts. We studied the expression of CD304/neuropilin-1 in a large cohort of adult B-ALL patients and evaluated its practical utility in MFC-based MRD analysis.

Methods: CD304 was studied in blasts from adult B-ALL patients and normal precursor B cells (NPBC) from non-B-ALL bone marrow samples using MFC. CD304 expression intensity and pattern were studied with normalized-mean fluorescent intensity (nMFI) and coefficient of variation of immunofluorescence (CVIF), respectively. MFC-based MRD was performed at end of induction (EOI; day-35), end of consolidation (EOC; day 78-80), and subsequent follow-up (SFU) time points.

Results: CD304 was positive in 120/214(56.07%) and was significantly associated with BCR-ABL1 fusion (P = .001). EOI-MRD and EOC-MRD were positive in 129/214(60.3%) and 50/81(61.72%), respectively. CD304 was positive in a significant percentage of EOI (48%, 62/129) and EOC (52%, 26/50) MRD-positive B-ALL samples. Its expression was retained, lost, and gained in 73.7%, 26.3%, and 11.3% of EOI-MRD and 85.7%, 14.3%, and none of EOC-MRD samples, respectively. Low-level MRD (<0.01%) was detectable in 34 of all (EOI + EOC + SFU = 189) MRD-positive samples, and CD304 was found useful in 50% of these samples.

Conclusion: CD304 is commonly expressed in adult B-ALL and clearly distinguish B-ALL blasts from normal precursor B cells. It is a stable MRD marker and distinctly useful in the detection of MFC-based MRD monitoring, especially in high-sensitivity MRD assay.
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http://dx.doi.org/10.1111/ijlh.13456DOI Listing
January 2021

Role of therapeutic plasma exchange in acute liver failure due to yellow phosphorus poisoning.

Indian J Gastroenterol 2020 Dec 6;39(6):544-549. Epub 2021 Jan 6.

Department of Hepatology, Sri Ramachandra Institute for Higher Education and Research, Chennai 600 116, India.

Background: Therapeutic plasma exchange (TPE) has been utilized in various liver disorders. There is limited data on the efficacy of TPE in patients with acute liver failure (ALF).

Methods: Study group consisted of patients who underwent TPE for ALF due to yellow phosphorous poisoning (YPP) between 2015 and 2019. Demographic data and biochemical parameters were recorded before and after TPE. Overall survival and transplant-free survival (based on King's College Hospital Criteria [KCHC]) were analyzed.

Results: Forty-three patients underwent TPE for ALF due to YPP. Most of them were young males. Overall survival was 34 (79.06%). In our study population, 20 patients fulfilled KCHC (Group A) and 23 did not fulfill KCHC (Group B). Both the groups showed significant improvement in alanine aminotransferase, aspartate aminotransferase, and international normalized ratio (INR) after TPE (p < 0.05). In Group B, there was significant improvement in ammonia after TPE (p < 0.05) and all 23 patients (100%) survived after TPE. In Group A, 4 underwent liver transplantation (LT), 7 survived without LT, and the remaining 9 died without LT. Mean survival after completing TPE was 41.2 ± 44.5 days in Group A and 90 days in Group B. This difference was statistically significant (p = 0.001). There was statistically significant difference in post-TPE values of INR (p = 0.012) and ammonia (p = 0.011) between non-survivors and survivors. Adverse events such as hypotension (11.62%) and minor allergic reaction (4.65%) were managed conservatively.

Conclusion: TPE is an effective procedure in ALF due to YPP, not fulfilling KCHC for LT. In KCHC fulfilled group, though it shows LT-free survival benefit, there is requirement of prospective, large volume, multi-center study to assess its efficacy.
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http://dx.doi.org/10.1007/s12664-020-01095-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7787244PMC
December 2020

Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS).

Neuroophthalmology 2020 16;44(6):413-414. Epub 2020 Jul 16.

Ophthalmology, ODDS Consortium and ERN-EYE Rigshospitalet Glostrup, Denmark.

Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are a new retinal optical coherence tomography (OCT) finding. The had made recommendations to distinguish PHOMS from true optic disc drusen (ODD) in 2018. While publications on PHOMS have increased since then, the accuracy of the definition of PHOMS and reliability of detection is unknown. In this multi-rater study, we demonstrate that the 2018 definition of PHOMS resulted in a poor multi-rater kappa of 0.356. We performed a Delphi consensus process to develop a consistent and refined definition of PHOMS with clear principles around the nature of PHOMS and how they differ from normal anatomy. Fifty explanatory teaching slides, provided as supplementary material, allowed our expert group of raters to achieve a good level of agreement (kappa 0.701, 50 OCT scans, 21 raters). We recommend adopting the refined definition for PHOMS.
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http://dx.doi.org/10.1080/01658107.2020.1760891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7746256PMC
July 2020

Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease.

Nat Immunol 2021 02 4;22(2):128-139. Epub 2021 Jan 4.

Clinical Genomics Program, NIAID, NIH, Bethesda, MD, USA.

Complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy (CHAPLE disease) is a lethal disease caused by genetic loss of the complement regulatory protein CD55, leading to overactivation of complement and innate immunity together with immunodeficiency due to immunoglobulin wasting in the intestine. We report in vivo human data accumulated using the complement C5 inhibitor eculizumab for the medical treatment of patients with CHAPLE disease. We observed cessation of gastrointestinal pathology together with restoration of normal immunity and metabolism. We found that patients rapidly renormalized immunoglobulin concentrations and other serum proteins as revealed by aptamer profiling, re-established a healthy gut microbiome, discontinued immunoglobulin replacement and other treatments and exhibited catch-up growth. Thus, we show that blockade of C5 by eculizumab effectively re-establishes regulation of the innate immune complement system to substantially reduce the pathophysiological manifestations of CD55 deficiency in humans.
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http://dx.doi.org/10.1038/s41590-020-00830-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7856263PMC
February 2021

Mechanistic Insight of Sensing Hydrogen Phosphate in Aqueous Medium by Using Lanthanide(III)-Based Luminescent Probes.

Nanomaterials (Basel) 2020 Dec 28;11(1). Epub 2020 Dec 28.

Department of Chemistry, Ghent University, Krijgslaan 281-S3 B, 9000 Ghent, Belgium.

The development of synthetic lanthanide luminescent probes for selective sensing or binding anions in aqueous medium requires an understanding of how these anions interact with synthetic lanthanide probes. Synthetic lanthanide probes designed to differentiate anions in aqueous medium could underpin exciting new sensing tools for biomedical research and drug discovery. In this direction, we present three mononuclear lanthanide-based complexes, EuLCl (), SmLCl (), and TbLCl (), incorporating a hexadentate aminomethylpiperidine-based nitrogen-rich heterocyclic ligand for sensing anion and establishing mechanistic insight on their binding activities in aqueous medium. All these complexes are meticulously studied for their preferential selectivities towards different anions such as HPO, SO, CHCOO, I, Br, Cl, F, NO, CO/HCO, and HSO at pH 7.4 in aqueous HEPES (2-[4-(2-hydroxyethyl)piperazin-1-yl]ethanesulfonic acid) buffer. Among the anions scanned, HPO showed an excellent luminescence change with all three complexes. Job's plot and ESI-MS support the 1:2 association between the receptors and HPO. Systematic spectrophotometric titrations of - against HPO demonstrates that the emission intensities of and were enhanced slightly upon the addition of HPO in the range 0.01-1 equiv and 0.01-2 equiv., respectively. Among the three complexes, complex showed a steady quenching of luminescence throughout the titration of hydrogen phosphate. The lower and higher detection limits of HPO by complexes and were determined as 0.1-4 mM and 0.4-3.2 mM, respectively, while complex covered 0.2-100 μM. This concludes that all complexes demonstrated a high degree of sensitivity and selectivity towards HPO.
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http://dx.doi.org/10.3390/nano11010053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7824681PMC
December 2020

Exclusive enteral nutrition induced sustained changes in the microbiota and improved inflammatory bowel disease in a pediatric patient with chronic granulomatous disease.

J Allergy Clin Immunol Pract 2021 Feb 15;9(2):1011-1014.e2. Epub 2020 Dec 15.

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.

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http://dx.doi.org/10.1016/j.jaip.2020.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7875062PMC
February 2021

The Subsidence IN Centralizer (SINC) Sign: A Diagnostic Indicator  to Help Prevent Missed Periprosthetic Hip Fractures.

J Emerg Med 2021 Feb 19;60(2):251-254. Epub 2020 Nov 19.

Royal Free London NHS Foundation Trust, Barnet Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jemermed.2020.10.016DOI Listing
February 2021