Review
Medicine, General & Internal
Marcela Junqueira Brunelli, Alvaro N. Atallah, Edina M. K. da Silva
Summary: MPS VI, also known as Maroteaux-Lamy syndrome, is a rare genetic disorder characterized by deficiency of arylsulphatase B, leading to accumulation of dermatan sulphate and lysosomal damage. Clinical manifestations primarily include skeletal dysplasia and various systemic complications. Enzyme replacement therapy with galsulfase is a new approach for treatment, but its effectiveness and safety remain uncertain based on current evidence. Further studies are needed to clarify its long-term effects and potential adverse events.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2021)
Review
Biochemistry & Molecular Biology
Joanne K. Tobacman, Sumit Bhattacharyya
Summary: The enzyme ARSB has a broader impact on human pathobiology, acting as a tumor suppressor, transcriptional mediator, redox switch, and regulator of intracellular and extracellular-cell signaling, in addition to its role in Mucopolysaccharidosis VI.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Maria Alejandra Puentes-Tellez, Oscar F. Sanchez, Felipe Rojas-Rodriguez, Eliana Benincore-Flore, Hector Barbosa, Carlos J. Almeciga Diaz
Summary: "Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by deficiency of the GALNS enzyme, resulting in GAGs accumulation. This study demonstrates that transduction of GALNS and SUMF1 genes into MPS IVA fibroblasts led to increased GALNS enzyme activity and reduced lysosomal mass. Patient-specific differences in response were associated with individual mutations. Additionally, evidence of autophagy impairment in MPS IVA fibroblasts was presented."
Article
Genetics & Heredity
Pascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, Sarah P. Young, Pierre Broqua, Mireille Tallandier, Eugeni Entchev
Summary: This study demonstrates that odiparcil efficiently reduces lysosome abundance and tissue GAG concentrations in in vitro and in vivo models of MPS VI and MPS I, suggesting its potential as a treatment for these disorders.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2023)
Article
Genetics & Heredity
Dina Marek-Yagel, Aviva Eliyahu, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ortal Barel, Elisheva Javasky, Ben Pode-Shakked, Neta Loewenthal, Yair Anikster, Orna Staretz-Chacham
Summary: Maroteaux-Lamy syndrome (MPS-VI) is a rare autosomal-recessive disorder caused by variants in the ARSB gene, with varying clinical progression. In this study, two siblings of Bedouin origin with MPS-VI were identified, and the genetic cause was determined through deep intronic sequence variation analysis, enabling targeted treatment and genetic counseling for the family. The results highlight the advantage of whole genome sequencing in improving rare disease diagnosis and the importance of studying deep intronic sequence variation in monogenic disorders.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Biotechnology & Applied Microbiology
Miles C. Smith, Lalitha R. Belur, Andrea D. Karlen, Olivia Erlanson, Kelly M. Podetz-Pedersen, Jessica McKenzie, Jenn Detellis, Khatuna Gagnidze, Geoffrey Parsons, Nicholas Robinson, Shelby Labarre, Saumil Shah, Justin Furcich, Troy C. Lund, Hsing-Chen Tsai, R. Scott McIvor, Melissa Bonner
Summary: Mucopolysaccharidosis type II, or Hunter syndrome, is a genetic lysosomal disease that currently only has enzyme replacement therapy as an approved treatment option. However, this therapy does not improve neurological symptoms. A study using a mouse model found that hematopoietic stem and progenitor cells transduced with a lentiviral vector carrying a specific gene sequence could effectively treat the disease and restore enzyme levels in the brain, preventing cognitive deficits.
HUMAN GENE THERAPY
(2022)
Article
Endocrinology & Metabolism
Bradley S. S. Miller, Ellen B. B. Fung, Klane K. K. White, Troy C. C. Lund, Paul Harmatz, Paul J. J. Orchard, Chester B. B. Whitley, Lynda E. E. Polgreen
Summary: This study aimed to evaluate the long-term changes in bone and joint disease in patients with mucopolysaccharidosis. The results showed that despite current treatments, patients with mucopolysaccharidosis still suffer from short stature and joint contractures. Therefore, further research and attention to weight management in patients are needed.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Physics, Particles & Fields
Sanefumi Moriyama, Tomoki Nosaka
Summary: In this study, we investigate partition functions of the circular-quiver supersymmetric Chern-Simons theory and discover several bilinear relations, which prove to be a powerful tool for determining unknown partition functions.
JOURNAL OF HIGH ENERGY PHYSICS
(2023)
Article
Chemistry, Analytical
Prajakta S. More, Umesh B. Barache, Shashikant H. Gaikwad, Laxman Gavali
Summary: The liquid-liquid extraction of Th(IV) and U(VI) with 4-methyl-N-n-octylaniline as an extracting agent was detailed in this study. Optimum conditions for the distribution of Th(IV) and U(VI) in xylene were determined, along with the effects of acidity and extracting agent concentration on the metal extraction. The recovery percentages were high, indicating the accuracy of the method.
JOURNAL OF RADIOANALYTICAL AND NUCLEAR CHEMISTRY
(2022)
Article
Chemistry, Inorganic & Nuclear
Songul Eglence-Bakir, Musa Sahin, Mustafa Ozyurek, Bahri Ulkuseven
Summary: Eight dioxomolybdenum(VI) complexes of 4-benzyloxysalicylidene N- or S-alkyl substituted thiosemicarbazones were synthesized and characterized, with one crystal structure being determined. The total antioxidant capacities were measured using the CUPRAC method, showing higher TEAC values for ONN series compared to ONS series. Scavenging effects for hydroxyl radical and xanthine oxidase inhibition activities were also investigated.
Article
Nanoscience & Nanotechnology
Dipika Das, R. K. Dutta
Summary: A facile method for synthesis of highly crystalline nitrogen-doped carbon dots was presented, with the structure and composition analyzed using various techniques. The N-CDs were shown to exhibit bright bluish photoluminescence and were utilized as an efficient probe for quantitative detection of Cr(VI) species and 4-nitrophenol with high selectivity and sensitivity.
ACS APPLIED NANO MATERIALS
(2021)
Article
Chemistry, Physical
Songul Eglemce-Bakir, Musa Sahin, Eda Erdemir, Mustafa Ozyurek, Bahri Ulkuseven
Summary: In this study, a series of long alkyl chain-substituted dioxomolybdenum(VI) complexes were successfully synthesized and characterized. Complex VII exhibited significant XO inhibitory activity and has the potential to be used in the treatment of XO-based disorders.
JOURNAL OF MOLECULAR STRUCTURE
(2024)
Article
Chemistry, Physical
Yanchao Shen, Yujie Ma, Cancan Zhang, Yadan Wang, Han Wang, Pingyun Li
Summary: This work reports the sol-gel designing and characterization of novel Cu-CoO/NC nanocatalysts and their catalytic behaviors towards the reduction reactions of 4-nitrophenol and Cr(VI) in aqueous solutions. The Cu-CoO/NC nanocatalyst prepared at 600 degrees C exhibited the best catalytic performance for the reduction of 4-NP, with a high activity parameter of 2128 s(-1)·g(-1). It also showed a high activity parameter of 3.51 s(-1)·g(-1) for the reduction of Cr(VI). Moreover, the Cu-CoO/NC nanocatalyst could be reused multiple times without significant loss of catalytic performance.
APPLIED SURFACE SCIENCE
(2024)
Article
Physics, Fluids & Plasmas
Gonzalo De Polsi, Guzman Hernandez-Chifflet, Nicolas Wschebor
Summary: The derivative expansion of the nonperturbative renormalization group has been proven to be an efficient tool for computing critical quantities accurately in recent years. The understanding of its convergence properties has allowed for estimation of error bars and precise computation of critical quantities. This study extends previous research to compute several universal amplitude ratios for the critical regime of O(N) models using the derivative expansion at order O(84) for three-dimensional systems.
Article
Chemistry, Multidisciplinary
Sergii Sveleba, Ivan Katerynchuk, Ivan Kuno, Ivan Karpa, Ostap Semotiuk
Summary: This paper investigates the dynamics of incommensurate superstructure formation. The study analyzes various indicators such as Lyapunov exponent value spectra and phase portraits to identify the occurrence of chaotic states under certain conditions. The interaction between different spatial areas of correlated motion of tetrahedral groups is found to play a crucial role in causing the chaotic state. Surface energy is also observed to have an impact on this interaction.
MOLECULAR CRYSTALS AND LIQUID CRYSTALS
(2023)
Article
Biochemistry & Molecular Biology
Yuhao Jiao, Joanne E. Davis, Jai Rautela, Emma M. Carrington, Mandy J. Ludford-Menting, Wilford Goh, Rebecca B. Delconte, Fernando Souza-Fonseca-Guimaraes, Rachel Koldej, Daniel Gray, David Huang, Ben T. Kile, Andrew M. Lew, David S. Ritchie, Nicholas D. Huntington
CELL DEATH AND DIFFERENTIATION
(2019)
Review
Oncology
Rachel E. Cooke, Rachel Koldej, David Ritchie
JOURNAL OF ONCOLOGY
(2019)
Letter
Hematology
Thijs W. H. Flinsenberg, Charnelle C. Tromedjo, Nan Hu, Ye Liu, Yin Guo, Kevin Y. T. Thia, Tahereh Noori, Xiaomin Song, Han X. Aw Yeang, Daniela G. Tantalo, Sasanka Handunnetti, John F. Seymour, Andrew W. Roberts, David Ritchie, Rachel Koldej, Paul J. Neeson, Lai Wang, Joseph A. Trapani, Constantine S. Tam, Ilia Voskoboinik
Letter
Oncology
Eric Wong, Joanne Davis, Rachel Koldej, Jeff Szer, Andrew Grigg, David Ritchie
LEUKEMIA & LYMPHOMA
(2020)
Article
Biochemistry & Molecular Biology
Rachel M. Koldej, Travis Perera, Jenny Collins, David S. Ritchie
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Review
Cell Biology
Kylie M. Quinn, Apriliana E. R. Kartikasari, Rachel E. Cooke, Rachel M. Koldej, David S. Ritchie, Magdalena Plebanski
JOURNAL OF LEUKOCYTE BIOLOGY
(2020)
Article
Oncology
Andrew Morokoff, Jordan Jones, Hong Nguyen, Chenkai Ma, Arian Lasocki, Frank Gaillard, Iwan Bennett, Rod Luwor, Stanley Stylli, Lucia Paradiso, Rachel Koldej, Iddo Paldor, Ramyar Molania, Terence P. Speed, Andrew Webb, Guiseppe Infusini, Jason Li, Charles Malpas, Tomas Kalincik, Katharine Drummond, Tali Siegal, Andrew H. Kaye
JOURNAL OF NEURO-ONCOLOGY
(2020)
Correction
Oncology
Andrew Morokoff, Jordan Jones, Hong Nguyen, Chenkai Ma, Arian Lasocki, Frank Gaillard, Iwan Bennett, Rod Luwor, Stanley Stylli, Lucia Paradiso, Rachel Koldej, Iddo Paldor, Ramyar Molania, Terence P. Speed, Andrew Webb, Guiseppe Infusini, Jason Li, Charles Malpas, Tomas Kalincik, Katharine Drummond, Tali Siegal, Andrew H. Kaye
JOURNAL OF NEURO-ONCOLOGY
(2020)
Article
Immunology
Rachel Elizabeth Cooke, Kylie Margaret Quinn, Hang Quach, Simon Harrison, Henry Miles Prince, Rachel Koldej, David Ritchie
FRONTIERS IN IMMUNOLOGY
(2020)
Article
Hematology
Joanne E. Davis, Sasanka M. Handunnetti, Mandy Ludford-Menting, Chia Sharpe, Piers Blombery, Mary Ann Anderson, Andrew W. Roberts, John F. Seymour, Constantine S. Tam, David S. Ritchie, Rachel M. Koldej
Article
Anesthesiology
J. A. Dubowitz, J. P. Cata, A. P. De Silva, S. Braat, D. Shan, K. Yee, F. Hollande, O. Martin, E. K. Sloan, B. Riedel
Summary: The study explored the feasibility of conducting a randomised controlled trial to investigate the impact of total intravenous anaesthesia with propofol versus inhalational volatile anaesthesia on postoperative outcomes for cancer patients. The successful recruitment rate and adherence to assigned anaesthetic treatment were high, and intra-operative and postoperative complications were comparable between the two intervention groups. This feasibility and pilot study supports the viability of a future large, randomised controlled trial to investigate the effect of anaesthesia technique on postoperative cancer outcomes.
Article
Oncology
Ashvind Prabahran, Rachel Koldej, Lynette Chee, Eric Wong, David Ritchie
Summary: This study identified risk factors associated with Poor Graft Function (PGF) and poor survival, such as non-sibling donor, ICU admission, blood culture positivity within the first 30 days post-transplantation, and grade III-IV acute graft vs host disease. Additionally, PGF patients without count recovery had a low 2-year overall survival rate of 6%, while severe GVHD, thrombocytopenia, and anemia were reliable indicators for predicting mortality from PGF.
LEUKEMIA & LYMPHOMA
(2021)
Article
Biophysics
James A. Kuzich, Yamuna Kankanige, Jerick Guinto, Georgina Ryland, Michelle McBean, Eric Wong, Rachel Koldej, Jenny Collins, David Westerman, David Ritchie, Piers Blombery
Summary: Identification of CMV-specific T-cell repertoire and overall TCR diversity using TRB deep sequencing post-alloSCT can help predict patients at risk of initial & recurrent CMV reactivation. Low pubCMVrep and TCR diversity at day +60 were associated with higher incidence of recurrent CMV, while pubCMVrep size at day +30 showed no association with reactivation.
BONE MARROW TRANSPLANTATION
(2021)
Review
Hematology
Ashvind Prabahran, Rachel Koldej, Lynette Chee, David Ritchie
Summary: Poor graft function (PGF) is a serious complication of allogeneic stem cell transplant, and further research is needed to determine its risk factors. The pathophysiology of PGF can be understood from three aspects: stem cell quantity, defects in bone marrow microenvironment components, and immunological suppression. Current treatment strategies focus on improving stem cell number and function, as well as supporting hematopoiesis in the microenvironment. The use of immune manipulation as a therapeutic strategy is limited.
Review
Biophysics
Ashvind Prabahran, Rachel Koldej, Lynette Chee, Jeff Szer, David Ritchie
Summary: The development of non-relapse cytopenias after alloSCT is a common occurrence, but the lack of clear definitions and high-quality evidence make it challenging for clinicians to manage these complex patients. This review provides guidance to clinicians by describing 3 cases of NRC and evaluating the current evidence on the pathophysiology and therapies for each entity.
BONE MARROW TRANSPLANTATION
(2022)