Article
Genetics & Heredity
Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosario Santos, Carlo L. M. Marcelis, Riikka Keski-Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa-Aranzasti, Anna Maria Cueto-Gonzalez, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu-Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Csaszar, Judit Karteszi, Beata Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
Summary: We described the phenotype of 22 male patients (20 probands) with a hemizygous missense variant in the MED12 gene. The phenotypic spectrum ranges from nonspecific intellectual disability to well-known syndromes. The identified variants were randomly distributed throughout the gene but mostly outside the functional domains. Statistical analyses did not show a correlation between the MED12-related phenotypes and the locations of the variants or the protein domain involved. In conclusion, establishing a genotype-phenotype correlation in MED12-related diseases remains challenging, and patients with a causative MED12 variant may be underdiagnosed due to their diverse clinical presentations.
Rating: 9/10
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Multidisciplinary Sciences
Liyun Jiang, Yuan Liu, Wenzhe Su, Wenhui Liu, Zhiqiang Dong, Yuxiang Long, Lei Luo, Qinlong Jing, Yimin Cao, Xinwei Wu, Biao Di
Summary: This study investigated and analyzed the demographic information of dengue cases and the genomic characteristics of dengue viruses in Guangzhou from 2010 to 2019. The results showed no statistical difference in the risk of dengue infection between males and females, and unlike other areas, the infection risk in Guangzhou increased with age. Four serotypes of dengue virus were identified, with different serotypes undergoing genotype and sublineage shifts. The study suggests that dengue in Guangzhou has not reached endemic levels and genotypic shifts may have caused dengue epidemics.
SCIENTIFIC REPORTS
(2023)
Review
Microbiology
Rayana Maryse Toye, Carmen Luisa Loureiro, Rossana Celeste Jaspe, Fabien Zoulim, Flor Helene Pujol, Isabelle Chemin
Summary: HBV genotypes E to J are understudied and have specific distributions across different regions. Genotype F is the most divergent and has further subgenotypes. There is a lack of data from sub-Saharan Africa and Latin America due to under-representation in clinical and research cohorts.
Article
History & Philosophy Of Science
Christophe Gauld
Summary: Much research has been done in the philosophy of psychiatry to characterize normal and pathological states. This article identifies and deconstructs two prevailing postulates in this field. The first postulate is about conceptualizing psychiatric disorders as stable entities with clear boundaries, which is challenged by a symptom-based approach. The second postulate is about perceiving harms primarily through networks of clinical manifestations. The article proposes a practical definition of psychiatric disorder, involving clinical manifestations belonging to the core of psychiatry, organized in a causal network, and exceeding a traditional threshold of significance.
Article
Medicine, Research & Experimental
Andreas Goebel, Emerson Krock, Clive Gentry, Mathilde R. Israel, Alexandra Jurczak, Carlos Morado Urbina, Katalin Sandor, Nisha Vastani, Margot Maurer, Ulku Cuhadar, Serena Sensi, Yuki Nomura, Joana Menezes, Azar Baharpoor, Louisa Brieskorn, Angelica Sandstrom, Jeanette Tour, Diana Kadetoff, Lisbet Haglund, Eva Kosek, Stuart Bevan, Camilla I. Svensson, David A. Andersson
Summary: The antibodies (IgG) from patients with fibromyalgia syndrome (FMS) can induce painful hypersensitivities by sensitizing peripheral nociceptive afferents, suggesting that reducing patient IgG levels might be an effective treatment for fibromyalgia.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Editorial Material
Pharmacology & Pharmacy
Laura B. Ramsey, Andrea Gaedigk
Summary: A study using a large dataset suggested the need for reevaluation of values assigned to CYP2D6*9 and *41 alleles to improve phenotype prediction accuracy. Metabolic ratios across different drugs were found to be similar, indicating consistent CYP2D6 activity.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2022)
Article
Multidisciplinary Sciences
Stefan Rehnmark, Ivan Shabo, Hakan Randahl, Yvonne Wengstrom, Per Rydberg, Elham Hedayati
Summary: This study aimed to compare three blood sampling methods for measuring the concentrations of Tamoxifen, Z-endoxifen, and 4-hydroxytamoxifen. The results showed significant differences in the concentrations of Z-endoxifen and 4-hydroxytamoxifen between capillary and venous blood samples, but no significant differences in Tamoxifen concentrations. Additionally, the concentrations remained relatively stable after storing the samples for 14 days.
SCIENTIFIC REPORTS
(2022)
Article
Cell Biology
Thomas Quinaux, Aurelia Bertholet-Thomas, Aude Servais, Olivia Boyer, Isabelle Vrillon, Julien Hogan, Sandrine Lemoine, Segolene Gaillard, Candide Alioli, Sophie Vasseur, Cecile Acquaviva, Olivier Peyruchaud, Irma Machuca-Gayet, Justine Bacchetta
Summary: This study investigated the impact of CTNS mutations and cysteamine therapy on human osteoclasts, as well as conducted a genotype-phenotype analysis related to osteoclastic differentiation. The results showed that patients with residual cystinosin activity generated significantly fewer osteoclasts, and cysteamine exerted an inhibitory effect on osteoclastic differentiation at high doses across all groups. The study highlights the link between genotype and osteoclastic differentiation, as well as the significant impact of cysteamine therapy on this process in humans.
Article
Medicine, General & Internal
Nathalia N. Chamma-Siqueira, Suiane C. Negreiros, Sarah-Blythe Ballard, Samela Farias, Sandro P. Silva, Stella M. Chenet, Eduardo J. M. Santos, Luann W. Pereira de Sena, Flavia Povoa da Costa, Amanda G. N. Cardoso-Mello, Paola B. Marchesini, Cassio R. L. Peterka, Giselle M. R. Viana, Alexandre Macedo de Oliveira
Summary: This study evaluated different primaquine regimens to prevent relapse of P. vivax malaria. The results showed that a total dose of 7.0 mg per kilogram of body weight had higher efficacy in preventing relapse through day 168 compared to a total dose of 3.5 mg per kilogram.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Article
Multidisciplinary Sciences
Idan Hefetz, Ofir Israeli, Gal Bilinsky, Inbar Plaschkes, Einat Hazkani-Covo, Zvi Hayouka, Adam Lampert, Yael Helman
Summary: Microbial adaptation to changing environmental conditions is often influenced by hypermutable sequences. In this study, a hypermutable hotspot within a flagellar gene of Paenibacillus glucanolyticus was found to generate non-swarming mutants with increased stress resistance. These mutants could survive and spread within the colony, leading to a higher population at the edge. The hypermutable sequence also allowed the non-swarming mutants to revert back to wild-type cells, ensuring the survival of the colony.
Editorial Material
Pharmacology & Pharmacy
Michelle Liu, Dan M. Roden, Josh F. Peterson
Summary: Concerns about diminished antiplatelet effects of clopidogrel in CYP2C19 poor metabolizers led the FDA to update the product label with a black box warning, but there is no mention of CYP2C19 intermediate metabolizers in the warning. Accumulating evidence over the past decade suggests that CYP2C19 IMs are also at risk of diminished antiplatelet effects.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2021)
Review
Oncology
Dali Tong
Summary: Prostate cancer undergoes genomic alterations and signaling pathway activation during therapy, leading to the development of castration-resistant prostate cancer. These changes involve canonical AR, SPOP/FOXA1 mutations, as well as activation of pathways like PI3K, WNT/beta-catenin, promoting tumor progression.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2021)
Article
Psychiatry
Eshim S. Jami, Anke R. Hammerschlag, Hannah M. Sallis, Zhen Qiao, Ole A. Andreassen, Per M. Magnus, Pal R. Njolstad, Alexandra Havdahl, Jean-Baptiste Pingault, David M. Evans, Marcus R. Munafo, Eivind Ystrom, Meike Bartels, Christel Middeldorp
Summary: Parental genes can influence offspring psychiatric outcomes indirectly through the environment they create. This study aimed to estimate the contribution of parental genetic nurture effects on childhood psychiatric symptoms using advanced statistical genetic methods. The results suggest that parental genetic nurture effects may play a role in explaining individual differences in childhood psychiatric symptoms, but further research with larger samples is needed.
TRANSLATIONAL PSYCHIATRY
(2023)
Review
Cell Biology
Pascal Seve, Yves Pacheco, Francois Durupt, Yvan Jamilloux, Mathieu Gerfaud-Valentin, Sylvie Isaac, Loic Boussel, Alain Calender, Geraldine Androdias, Dominique Valeyre, Thomas El Jammal
Summary: Sarcoidosis is a multi-system disease characterized by the formation of granulomas in various organs. Diagnosis is based on specific clinical and histological criteria, with certain clinical features considered highly specific of the disease. New diagnostic guidelines have been developed for cardiac, neurological, and ocular sarcoidosis.
Article
Psychology, Biological
Jasmin Wertz, Terrie E. Moffitt, Louise Arseneault, J. C. Barnes, Michel Boivin, David L. Corcoran, Andrea Danese, Robert J. Hancox, HonaLee Harrington, Renate M. Houts, Stephanie Langevin, Hexuan Liu, Richie Poulton, Karen Sugden, Peter T. Tanksley, Benjamin S. Williams, Avshalom Caspi
Summary: A study of 36,516 parents from six international cohorts reveals associations between parental genetics and parental investments in offspring, from behaviors during pregnancy to wealth inheritance in adulthood. The effects of parental genetics on behaviors tend to be small at any given time point, but accumulate over development. This suggests that parents pass on advantages to their children through genetic associations with investments across various stages of development.
NATURE HUMAN BEHAVIOUR
(2023)