Article
Biotechnology & Applied Microbiology
Chunxiao Hu, Valerio F. Annese, Christos Giagkoulovits, Michael P. Barrett, David R. S. Cumming
Summary: We have demonstrated a low-cost handheld self-monitoring solution for haemophilia A, which shows comparable performance to the gold standard method. It has the potential to reduce the human and monetary costs of over- or under-medication for haemophiliacs.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Psychiatry
Therdpong Thongseiratch, Pathrada Traipidok, Pattra Charleowsak, Tuangporn Kraiwong, Alan Frederick Geater
Summary: The study developed the RAPALI flowchart for early dyslexia identification and found that it effectively identified dyslexia risk at grade 3 level with high sensitivity and negative predictive value. The user-friendly flowchart aids early interventions and preventive measures for dyslexia.
ASIAN JOURNAL OF PSYCHIATRY
(2023)
Review
Dermatology
Misaki Kinoshita-Ise, Muskaan Sachdeva
Summary: Trichoscopy, a non-invasive diagnostic modality widely used in daily practice, still faces challenges with complexity and inconsistency in terminology. This review redefined major trichoscopic findings, identified potential confusing terms, and calculated their diagnostic significance for representative hair diseases. A new diagnostic flowchart is proposed to maximize usefulness, while discussing current limitations and future perspectives of trichoscopy and other emerging non-invasive diagnostic modalities for hair diseases.
JOURNAL OF DERMATOLOGY
(2022)
Article
Oncology
Mark E. Robson, Seock-Ah Im, Elzbieta Senkus, Binghe Xu, Susan M. Domchek, Norikazu Masuda, Suzette Delaloge, Nadine Tung, Anne Armstrong, Mike Dymond, Anitra Fielding, Allison Allen, Pierfranco Conte
Summary: In the Phase III OlympiAD study, olaparib demonstrated a significant prolongation of progression-free survival for patients with germline BRCA-mutated metastatic breast cancer, especially in those receiving it as first-line treatment. The median overall survival for olaparib was 19.3 months, compared to 17.1 months for chemotherapy treatment of physician's choice. These results suggest a potential long-term survival benefit with olaparib.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Multidisciplinary Sciences
Yoshihiro Ikeuchi, Hidenori Ochi, Chikaaki Motoda, Takehito Tokuyama, Yousaku Okubo, Sho Okamura, Syunsuke Miyauchi, Shogo Miyamoto, Yukimi Uotani, Yuko Onohara, Mika Nakashima, Rie Akiyama, Hidetoshi Tahara, Kazuaki Chayama, Yasuki Kihara, Yukiko Nakano
Summary: This study found that plasma miRNAs may serve as potential noninvasive biomarkers for Brugada syndrome (BrS), and the constructed logistic model is useful for discriminating BrS.
Article
Hematology
Xueqing Dou, Wenhui Zhang, Man-Chiu Poon, Xinsheng Zhang, Runhui Wu, Xiaoqin Feng, Linhua Yang, Peng Cheng, Shu Chen, Ying Wang, Hu Zhou, Meijuan Huang, Yanping Song, Chenghao Jin, Donglei Zhang, Lingling Chen, Wei Liu, Lei Zhang, Feng Xue, Renchi Yang
Summary: This study investigates the risk factors and management experience of factor FIX inhibitors in Chinese patients with hemophilia B. The researchers found that large deletions in the F9 gene were significantly associated with inhibitor development. Additionally, low-dose immune tolerance induction therapy may be a feasible approach for eradicating FIX inhibitors.
Article
Genetics & Heredity
Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michel A. A. P. Willemsen, Lisenka E. L. M. Vissers
Summary: This systematic study found that both reanalysis of existing data and resequencing strategies are needed to identify additional genetic diagnoses in undiagnosed patients. Importantly, not all patients are routinely re-evaluated in clinical care, prolonging their diagnostic trajectory unless systematic reanalysis is facilitated.
Review
Ophthalmology
Xiaofan Jiang, Omar A. Mahroo
Summary: Negative ERG occurs when the b-wave is selectively reduced, indicating a site of retinal dysfunction, helping in the diagnosis of genetic or acquired diseases. In genetic diseases, the abnormal pattern of negative ERG can point to variants in a small group of genes, while in acquired diseases, negative ERG may suggest melanoma-associated retinopathy.
Article
Hematology
Carly George, Sumit Parikh, Tina Carter, Joanna Mccosker, Sara Carlino, Huyen Tran
Summary: Extended half-life (EHL) factor VIII and IX concentrates have been used for prophylaxis in selected persons with haemophilia in Australia since March 2018. Preliminary analysis showed improved treatment adherence, reduced injections, and better bleeding outcomes. This study aimed to characterize clinical practices regarding EHL usage, evaluate treatment regimens and bleeding outcomes, and analyze the impact of EHL product pharmacokinetics on clinical decision-making.
Article
Virology
Jessika Cristina Chagas Lesbon, Mirele Daiana Poleti, Elisangela Chicaroni de Mattos Oliveira, Jose Salvatore Leister Patane, Luan Gaspar Clemente, Vincent Louis Viala, Gabriela Ribeiro, Marta Giovanetti, Luiz Carlos Junior de Alcantara, Olivia Teixeira, Maria Cristina Nonato, Loyze Paola Oliveira de Lima, Antonio Jorge Martins, Claudia Renata dos Santos Barros, Elaine Cristina Marqueze, Jardelina de Souza Todao Bernardino, Debora Botequio Moretti, Ricardo Augusto Brassaloti, Raquel de Lello Rocha Campos Cassano, Pilar Drummond Sampaio Correa Mariani, Svetoslav Nanev Slavov, Rafael Bezerra dos Santos, Evandra Strazza Rodrigues, Elaine Vieira Santos, Josiane Serrano Borges, Debora Glenda Lima de La Roque, Joao Paulo Kitajima, Bibiana Santos, Patricia Akemi Assato, Felipe Allan da Silva da Costa, Cecilia Artico Banho, Livia Sacchetto, Marilia Mazzi Moraes, Melissa Palmieri, Fabiana Erica Vilanova da Silva, Rejane Maria Tommasini Grotto, Jayme A. Souza-Neto, Mauricio Lacerda Nogueira, Luiz Lehman Coutinho, Rodrigo Tocantins Calado, Raul Machado Neto, Dimas Tadeu Covas, Simone Kashima, Maria Carolina Elias, Sandra Coccuzzo Sampaio, Heidge Fukumasu
Summary: The article highlights the evolution of the COVID-19 virus and the potential impact on RT-PCR testing accuracy, identifying gene mutations that affect N gene detection and emphasizing the importance of continuous monitoring of genetic mutations to ensure diagnostic effectiveness.
Article
Oncology
Qiang Huang, Feiran Li, Mengyou Ji, Lan Lin, Chunyan Hu
Summary: This study aims to evaluate the prognostic significance of human papillomavirus (HPV) in patients with hypopharyngeal squamous cell carcinoma, and to investigate the impact of p53 and TP53 mutations on patient prognosis. HPV infection status, p53 expression, and TP53 mutation were analyzed in a total of 111 patients. The results showed that HPV infection status is a strong prognostic indicator of survival, while p53 and TP53 mutations do not significantly affect survival in HPV(-) patients.
Letter
Pediatrics
William Sullivan, Benjamin C. Reeves, Phan Q. Duy, Carol Nelson-Williams, Weilai Dong, Sheng Chih Jin, Kristopher T. Kahle
Summary: This study evaluates the use of whole-exome sequencing as a diagnostic tool in a cohort of neurosurgically treated congenital hydrocephalus patients.
Article
Critical Care Medicine
Mark E. Haaksma, Jasper M. Smit, Micah L. A. Heldeweg, Jip S. Nooitgedacht, Harm J. de Grooth, Annemijn H. Jonkman, Armand R. J. Girbes, Leo Heunks, Pieter R. Tuinman
Summary: In critically ill patients with pulmonary consolidation on chest radiograph, an extended lung ultrasound protocol is an accurate and directly bedside available tool to differentiate pneumonia from atelectasis. It outperforms standard lung ultrasound and clinical scores.
CRITICAL CARE MEDICINE
(2022)
Article
Hematology
Alanna McEneny-King, Pierre Chelle, Margaret H. Goggans, Patricia J. Barker, Timothy W. Jacobs, Ellis J. Neufeld, Ulrike M. Reiss, John C. Panetta
Summary: The study found that limited sampling strategies can accurately estimate PK parameters and relevant trough levels for the EHL FVIII product rFVIIIFc. Incorporating knowledge of prior doses and scheduling the PK study appropriately can significantly reduce the error rate.
Article
Virology
Maisuri T. Chalid, Turyadi, Susan I. Ie, Rizalinda Sjahril, Ridha Wahyuni, M. Nasrum Massi, David H. Muljono
Summary: This study examines the HBV characteristics and potential risk of mother-to-child transmission among HBeAg-negative/HBsAg-positive expectant mothers in an area with a high prevalence of e-CHB. It highlights the importance of considering antiviral prophylaxis eligibility in situations with limited resources and in regions where e-CHB is prevalent, as some HBeAg-negative mothers may still pose a high transmission risk.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Oncology
Vidushi Mahajan, Anita Tahlan, Chandrika Azad, Jasmina Ahluwalia, Matthias Watzka, Johannes Oldenburg
Summary: This case study highlights a family with recurrent sibling losses due to vitamin K deficiency bleed. Treatment with vitamin K led to normalization of clotting factors in the index child, and genetic analysis did not reveal any inherited cause of bleeding tendency.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Marie-Therese Hopp, Nour Alhanafi, Ajay Abisheck Paul George, Nasim Shahidi Hamedani, Arijit Biswas, Johannes Oldenburg, Bernd Poetzsch, Diana Imhof
Summary: The study identifies APC as a heme-binding protein and provides insights into the functional consequences. Results suggest that heme from hemolysis may directly influence the protein C pathway through binding to APC, potentially explaining the decreased activity of APC under hemolytic conditions. These findings broaden our understanding of heme as a multifaceted effector within coagulation and may improve our understanding of disease development in hemostasis under hemolytic conditions.
ANTIOXIDANTS & REDOX SIGNALING
(2021)
Review
Hematology
Carmen Escuriola-Ettingshausen, Gunter Auerswald, Christoph Konigs, Karin Kurnik, Ute Scholz, Robert Klamroth, Johannes Oldenburg
Summary: Standard treatment of haemophila A involves replacing the missing coagulation factor VIII. The most challenging complication is the development of inhibitors, with immune tolerance induction being the most effective strategy. When using bypassing agents, caution should be taken for potential drug interactions.
Editorial Material
Dermatology
Wenming Peng, Bartlomiej Kwiek, Chunfeng Yu, Natalio Garbi, Jean-Pierre Allam, Johannes Oldenburg, Natalija Novak
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Correction
Hematology
Johannes Oldenburg, Robert Klamroth, Florian Langer, Manuela Albisetti, Charis von Auer, Cihan Ay, Wolfgang Korte, Ruediger E. Scharf, Bernd Poetzsch, Andreas Greinacher
Article
Genetics & Heredity
Hamideh Yadegari, Arijit Biswas, Shariq Ahmed, Arshi Naz, Johannes Oldenburg
Summary: This study investigated the functional consequences and pathomolecular mechanisms of several VWF propeptide missense variants in patients with von Willebrand disease. The variants were found to impair VWF synthesis and secretion, leading to ER retention and alterations in organelle morphology. The study highlighted the importance of these VWFpp variants in anterograde ER-Golgi trafficking of VWF and the biogenesis of WPB-like vesicles.
Article
Hematology
Mark W. Skinner, Claude Negrier, Ido Paz-Priel, Sammy Chebon, Victor Jimenez-Yuste, Michael U. Callaghan, Michaela Lehle, Markus Niggli, Johnny Mahlangu, Amy Shapiro, Midori Shima, Avrita Campinha-Bacote, Gallia G. Levy, Johannes Oldenburg, Sylvia von Mackensen, Steven W. Pipe
Summary: The study demonstrated that emicizumab prophylaxis in severe HA patients without FVIII inhibitors led to sustained and significant improvements in Haem-A-QoL PH, especially in subgroups with poorer HRQoL prior to treatment initiation. No significant changes were observed in EQ-5D-5L scores over time.
Article
Hematology
Jamil Hmida, Thomas Hilberg, Steffen Krueger, Tom R. Jansen, Georg Goldmann, Johannes Oldenburg, Dieter C. Wirtz, Andreas C. Strauss
Summary: Haemophilic arthropathy results in altered spine posture during gait, possibly due to reduced mobility in the affected joints. Clinicians should focus on the spinal column posture during gait in daily treatment to reduce structural burdens.
Article
Genetics & Heredity
Suvoshree Ghosh, Katrin Kraus, Arijit Biswas, Jens Mueller, Francesco Forin, Heike Singer, Klara Hoening, Veit Hornung, Matthias Watzka, Johannes Oldenburg, Katrin J. Czogalla-Nitsche
Summary: Research has shown that certain GGCX gene variants causing significantly reduced gamma-carboxylation of Gla-rich protein (GRP) are reported in patients with skin laxity. However, reduced levels of gamma-carboxylated Matrix Gla protein (MGP) are not exclusive for causing skeletal dysmorphologies in VKCFD1 patients.
Review
Biochemistry & Molecular Biology
Suvoshree Ghosh, Johannes Oldenburg, Katrin J. Czogalla-Nitsche
Summary: VKCFD1 is a rare hereditary bleeding disorder caused by mutations in the GGCX gene. In addition to bleeding, patients may develop non-hemorrhagic phenotypes such as skin hyper-laxity, skeletal dysmorphologies, and cardiac defects. Recent studies have found that GGCX mutations affect the gamma-carboxylation of VKD proteins, leading to the development of diverse phenotypes. Mineralization defects are the major manifestation of non-hemorrhagic phenotypes in VKCFD1 patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Peripheral Vascular Disease
Heiko Ruehl, Anne M. Friemann, Sara Reda, Nadine Schwarz, Franziska Winterhagen, Christina Berens, Jens Mueller, Johannes Oldenburg, Bernd Poetzsch
Summary: In vivo conditions require specific local features for the activation of FXI, including potential cofactors of thrombin present at the wounded site.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2022)
Letter
Hematology
Julia R. Hirsiger, Maria Martinez, Dimitrios A. Tsakiris, Micol G. Cittone, Lukas Graf, Johannes Oldenburg, Behnaz Pezeshkpoor, Mike Recher, Jens Mueller, Bernhard Gerber, Christoph T. Berger
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Hematology
Hamideh Yadegari, Muhammad Ahmer Jamil, Jens Mueller, Natascha Marquardt, Orla Rawley, Ulrich Budde, Osman El-Maarri, David Lillicrap, Johannes Oldenburg
Summary: An in-frame heterozygous large deletion of exons 4 through 34 of the von Willebrand factor (VWF) gene was found in a type 3 von Willebrand disease (VWD) patient, leading to severe bleeding episodes despite treatment. Further analysis revealed defects in VWF multimers and Weibel-Palade bodies (WPBs) in patient's endothelial cells, along with upregulated pro-inflammatory and proangiogenic genes. These findings suggest that the deleted VWF has a negative impact on cellular signaling pathways, phenotype, and function of the endothelial cells.
Article
Cardiac & Cardiovascular Systems
Adem Aksoy, Muntadher Al Zaidi, Elena Repges, Marc Ulrich Becher, Cornelius Mueller, Johannes Oldenburg, Sebastian Zimmer, Georg Nickenig, Vedat Tiyerili
Summary: VKA treatment promotes maladaptive neointima formation after carotid artery injury and reduces aortal VKORC1L1 mRNA expression. Inhibition of VKORC1L1 contributes to adverse VSMC phenotype, while MK7 restores VSMC function.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Medicine, General & Internal
Martin Sanabria, Maria Teresa Alvarez Roman, Giancarlo Castaman, Maissaa Janbain, Tadashi Matsushita, Karina Meijer, Johannes Oldenburg, Sabine Friedl, M. T. Reding
Summary: HEM-POWR is a non-interventional, prospective, postmarketing cohort study evaluating the real-world treatment effectiveness and safety of damoctocog alfa pegol in PTPs with haemophilia A. The study aims to capture primary outcomes such as total bleeding events and annualised bleeding rate, as well as secondary outcomes including long-term safety, joint health, pharmacokinetics, patient-reported outcomes, and perioperative haemostasis.
