Article
Endocrinology & Metabolism
Cezanne D. Kooij, Annelies M. C. Mavinkurve-Groothuis, Idske C. L. Kremer Hovinga, Leendert H. J. Looijenga, Tuula Rinne, Jacques C. Giltay, Laetitia M. O. de Kort, Aart J. Klijn, Ronald R. de Krijger, Annemarie A. Verrijn Stuart
Summary: This study reports the development of malignant testicular germ cell tumors in two young adult males with familial male-limited precocious puberty (FMPP) due to LHCGR pathogenic variants. The study also investigates the potential link between FMPP and testicular tumors. The results suggest that FMPP might increase the risk of developing testicular GCTs in early adulthood.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Nicolas Chevalier, Charlotte Hinault, Stephan Clavel, Rachel Paul-Bellon, Patrick Fenichel
Summary: GPER/GPR30, a novel estrogen-binding protein structurally distinct from classic estrogen receptors, is involved in male germ cell proliferation in testicular germ cell cancers. Overexpression of GPER/GPR30 in seminomas, potentially linked to genetic variations, suggests it as a therapeutic target.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Pediatrics
Tian-Qu He, Rong Wen, Yao-Wang Zhao, Li Liu, Jian-Jun Hu, Yu Liu, Qian-Long Peng
Summary: This study analyzed the clinical features and pathological findings of the largest reported case series of testicular regression syndrome (TRS). The study found that TRS is more common on the left side and is usually accompanied by a closed internal ring and compensatory hypertrophy of the contralateral testis. Germ cells are only present in cases where the spermatic vessels enter the internal ring.
FRONTIERS IN PEDIATRICS
(2022)
Article
Psychology, Clinical
Mao-Hsuan Huang, Chih-Ming Cheng, Shih-Jen Tsai, Ya-Mei Bai, Cheng-Ta Li, Wei-Chen Lin, Tung-Ping Su, Tzeng-Ji Chen, Mu-Hong Chen
Summary: The study found that first-degree relatives of patients with obsessive-compulsive disorder have a higher risk of major psychiatric disorders such as major depressive disorder, bipolar disorder, OCD, autism spectrum disorder, ADHD, and schizophrenia. Different familial relationships of first-degree relatives consistently had increased risks for these disorders, and a dose-dependent relationship was found between the number of OCD probands and the risk of each major psychiatric disorder.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Oncology
Mikkel Bandak, Allan Jensen, Christian Dehlendorff, Jakob Lauritsen, Michael Kreiberg, Thomas Wagner, Josephine Rosenvilde, Gedske Daugaard
Summary: The study found that the chance of obtaining fatherhood after testicular cancer treatment was higher than previously reported, with a statistically significant decrease after BEP and BEP + surgery treatment, while radiotherapy and surveillance had no significant impact on fertility.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2022)
Article
Gastroenterology & Hepatology
John Gasdal Karstensen, Steffen Bulow, Helle Hojen, Anne Marie Jelsig, Niels Jespersen, Klaus Kaae Andersen, Mads Damsgaard Wewer, Johan Burisch, Hans Christian Pommergaard
Summary: This study found that patients with familial adenomatous polyposis (FAP) have a significantly higher risk of developing cancer compared to controls, mainly due to increased risks of colorectal, pancreatic, and duodenal/small-bowel cancers. Additionally, the risk of developing a second primary cancer is also significantly higher for FAP patients.
Article
Pathology
Ana P. Ferragut Cardoso, Ligia M. M. Gomide, Nathalia P. Souza, Carlos Marcio N. de Jesus, Lora L. Arnold, Samuel M. Cohen, Joao Lauro de Camargo, Merielen G. Nascimento e Pontes
Summary: Age, sexual maturity, and extent of germ cell damage are crucial factors for germ cell restoration and normal spermatogenesis after cryptorchidism.
INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
(2021)
Review
Oncology
Deaglan J. Mchugh, Jack P. Gleeson, Darren R. Feldman
Summary: Testicular germ cell tumor is the most common solid tumor in adolescent and young adult men. There have been advancements in its management over the past 50 years, but relapse or platinum-refractory disease remains a concern with potential fatal outcomes.
CA-A CANCER JOURNAL FOR CLINICIANS
(2023)
Article
Medicine, General & Internal
Fabiola Garcia-Andrade, Rosa Maria Vigueras-Villasenor, Margarita Dolores Chavez-Saldana, Julio Cesar Rojas-Castaneda, Ivan Uriel Bahena-Ocampo, Elena Arechaga-Ocampo, Mauricio Flores-Fortis, Jose Diaz-Chavez, Luis Alonso Herrera, Daniel Adrian Landero-Huerta
Summary: Cryptorchidism is associated with the development of testicular germ-cell tumors (TGCT). This study analyzed tissue samples from cryptorchidism, TGCT, and control subjects to investigate the expression of molecular markers related to TGCT. The study identified abnormal expression of certain genes in cryptorchidism patients and identified additional candidate tumor biomarkers.
Article
Oncology
Michael Kreiberg, Mikkel Bandak, Jakob Lauritsen, Thomas Wagner, Josephine Rosenvilde, Mads Agerbaek, Lars Dysager, Cathrine Juel Lau, Klaus Kaae Andersen, Gedske Daugaard
Summary: Testicular cancer survivors have higher rates of smoking and being overweight compared to the reference population, while they engage in less sedentary lifestyle and alcohol consumption. The study suggests that smoking cessation should be a primary focus for intervention in this population.
Review
Biochemistry & Molecular Biology
Marco De Martino, Paolo Chieffi, Francesco Esposito
Summary: Testicular germ cell tumors are the leading form of solid cancer and death among males aged 20 to 40. The deregulation of miRNAs plays a key role in TGCTs, making them potential diagnostic and prognostic markers for testicular tumors.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Marcus Hentrich, Jessica Debole, Vindi Jurinovic, Arthur Gerl
Summary: The treatment of metastatic germ cell cancer is based on the 1997 IGCCCG prognostic classification, with improved outcomes over time. Excellent prognosis was seen in intermediate-risk patients, but treatment improvement is needed for those in the poor-prognosis group.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2021)
Article
Medicine, General & Internal
Kira Kirchner, Christoph Seidel, Finn-Ole Paulsen, Bianca Sievers, Carsten Bokemeyer, Davor Lessel
Summary: The CHEK2 gene is associated with susceptibility to testicular germ cell tumors (TGCT) and has moderate penetrance. The frequency of CHEK2 gene variants was found to be significantly higher in TGCT cases compared to the control group, and patients with CHEK2 variants developed TGCT at a younger age. Additionally, another CHEK2 variant related to TGCT susceptibility was identified.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Andrology
Lottie Phillips, Cecilia Lundholm, Lisa Ortqvist, Catarina Almqvist, Agneta Nordenskjold, Anna Skarin Nordenvall
Summary: Using dizygotic twinning rates as an epidemiological indicator, this study found no significant difference in semen quality between men with hypospadias and controls. Although the sample size was limited, impaired semen quality in severe hypospadias could not be excluded. Men treated for cryptorchidism were more likely to use assisted reproductive technology for conception compared to controls.
Article
Biochemistry & Molecular Biology
Dennis M. Timmerman, Thomas F. Eleveld, Ad J. M. Gillis, Carlijn C. Friedrichs, Sanne Hillenius, Tessa L. Remmers, Sruthi Sriram, Leendert H. J. Looijenga
Summary: Germ cell tumors (GCTs) have varying responses to platinum-based chemotherapy depending on their anatomical origin, with mediastinal GCTs showing resistance compared to testicular GCTs. TP53 mutations may play a role in causing cisplatin resistance in mediastinal GCTs, suggesting a potential target for treatment. The study provides insights into the underlying mechanisms of TP53 mutant and mediastinal GCTs for alternative treatment approaches.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Rheumatology
Gabriella Giancane, Riccardo Papa, Sebastiaan Vastert, Francesca Bagnasco, Joost F. Swart, Pierre Quartier, Jordi Anton, Sylvia Kamphuis, Helga Sanner, Mia Glerup, Fabrizio De Benedetti, Elena Tsitsami, Agustin Remesal, Estefania Moreno, Jaime De Inocencio, Charlotte Myrup, Chiara Pallotti, Isabelle Kone-Paut, Karin Franck-Larsson, Hakan Malmstrom, Susanna Cederholm, Angela Pistorio, Nico Wulffraat, Nicolino Ruperto
Summary: This study evaluated the long-term safety profile of anakinra in patients with sJIA. The results showed an overall decreasing incidence of adverse events over time.
JOURNAL OF RHEUMATOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Nina Oyen, Heather A. Boyd, Lisbeth Carstensen, Lars Sondergaard, Jan Wohlfahrt, Mads Melbye
Summary: Offspring of mothers with congenital heart defects have a higher risk of also having congenital heart defects compared to offspring of fathers with congenital heart defects.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2022)
Article
Psychiatry
Marie-Louise H. Rasmussen, Gry J. Poulsen, Jan Wohlfahrt, Poul Videbech, Mads Melbye
Summary: Postpartum depression aggregates in families without prior psychiatric history, but it is not primarily caused by genetic factors. Other possible mechanisms include shared environment and/or health-seeking behavior in close relationships.
ACTA PSYCHIATRICA SCANDINAVICA
(2022)
Article
Genetics & Heredity
Suzanne Vogelezang, Jonathan P. Bradfield, Struan F. A. Grant, Janine F. Felix, Vincent W. V. Jaddoe
Summary: This study found associations between head circumference and intelligence, and highlighted the significant overlap of biological processes between early-life and adult head circumference. It also revealed the genetic correlations of early-life head circumference with intracranial volume, years of schooling, childhood and adult intelligence.
BMC MEDICAL GENOMICS
(2022)
Article
Oncology
Anders Husby, Jan Wohlfahrt, Mads Melbye
Summary: A woman's reproductive history is associated with her risk of ovarian cancer. This study found that the protective effect against ovarian cancer is mainly driven by the first three pregnancies, and not the duration of pregnancy.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Editorial Material
Pediatrics
Paula L. Hedley, Marie Baekvad-Hansen, Gitte Hedermann, Henrik Hjalgrim, David M. Hougaard, Mads Melbye, Morten Breindahl, Lone Krebs, Anders Hviid, Ulrik Lausten-Thomsen, Michael Christiansen
Article
Psychiatry
Marie-Louise H. Rasmussen, Gry J. Poulsen, Poul Videbech, Jan Wohlfahrt, Mads Melbye
Summary: Previous research suggests that women with endocrine disease may have an increased risk of postpartum depression (PPD) due to their sensitivity to hormonal fluctuations. This nationwide cohort study aimed to investigate the association between endocrine disease history and PPD risk. The study included 888,989 deliveries and found that women with endocrine disease history had a 42% higher risk of PPD compared to those without. Interestingly, women with a history of PPD also had a 50% higher risk of endocrine disease. These findings highlight the importance of monitoring and providing support for pregnant women with endocrine disease to prevent and address PPD.
BRITISH JOURNAL OF PSYCHIATRY
(2023)
Article
Endocrinology & Metabolism
Arvid Engstroem, Viktor Wintzell, Mads Melbye, Anders Hviid, Bjoern Eliasson, Soffia Gudbjoernsdottir, Kristian Hveem, Christian Jonasson, Henrik Svanstroem, Bjoern Pasternak, Peter Ueda
Summary: Using nationwide registers data from Denmark, Norway, and Sweden, this study demonstrates an association between the use of SGLT2 inhibitors and the risk of new-onset atrial fibrillation. Compared to GLP-1 receptor agonists, SGLT2 inhibitors are associated with a modestly reduced risk of new-onset atrial fibrillation.
Article
Medicine, General & Internal
Anders Husby, Jan Wohlfahrt, Mads Melbye
Summary: A Danish study found that there is a link between gestational age at birth and cognitive outcomes. Children born before 34 weeks showed lower academic performance in language and mathematics, while those born between 34-39 weeks did not differ significantly from full-term babies. This study provides important insights into the development of preterm babies.
BMJ-BRITISH MEDICAL JOURNAL
(2023)
Article
Genetics & Heredity
Pol Sole-Navais, Christopher Flatley, Valgerdur L. Steinthorsdottir, Marc Vaudel, Julius Juodakis, Jing Chen, Triin Laisk, Abigail C. LaBella, David Westergaard, Jonas Bacelis, Ben Brumpton, Line Skotte, Maria Borges, Oyvind A. Helgeland, Anubha Mahajan, Matthias N. Wielscher, Frederick P. Lin, Catherine Briggs, Carol Wang, Gunn-Helen E. Moen, Robin R. Beaumont, Jonathan Bradfield, Abin A. Abraham, Gudmar Thorleifsson, Maiken Gabrielsen, Sisse Ostrowski, Dominika Modzelewska, Ellen M. Nohr, Elina Hypponen, Amit M. Srivastava, Octavious Talbot, Catherine Allard, Scott Williams, Ramkumar Menon, Beverley Shields, Gardar Sveinbjornsson, Huan B. Xu, Mads F. Melbye, William Lowe, Luigi Bouchard, Emily I. Oken, Ole I. Pedersen, Daniel T. Gudbjartsson, Christian Erikstrup, Erik Sorensen, Rolv Lie, Kari Teramo, Mikko T. Hallman, Thorhildur Juliusdottir, Hakon Hakonarson, Henrik L. Ullum, Andrew Hattersley, Line Sletner, Mario Merialdi, Sheryl Rifas-Shiman, Thora Steingrimsdottir, Denise A. Scholtens, Christine H. Power, Jane West, Mette A. Nyegaard, John Capra, Anne Skogholt, Per Magnus, Ole E. Andreassen, Unnur Thorsteinsdottir, Struan F. A. M. Grant, Elisabeth Qvigstad, Craig I. Pennell, Marie-France A. Hivert, Geoffrey M. Hayes, Marjo-Riitta Jarvelin, Mark I. McCarthy, Deborah Lawlor, Henriette Nielsen, Reedik Maegi, Antonis Rokas, Kristian Hveem, Kari J. Stefansson, Bjarke M. Feenstra, Pal Njolstad, Louis Muglia, Rachel Freathy, Stefan Johanson, Ge Zhang, Bo Jacobsson
Summary: The study conducted a meta-analysis and identified genetic variants associated with gestational duration and preterm delivery. It revealed the importance of maternal alleles in influencing gestational duration and the complex relationship between gestational duration and birth weight. The study also identified antagonistic pleiotropy, where maternal alleles that increase gestational duration have negative effects on birth weight.
Article
Multidisciplinary Sciences
Victoria de Knegt, Paula Hedley, Gitte N. Hedermann, Casper Wilstrup, Marie Baekvad-Hansen, Ida Thagaard, Henrik M. Hjalgrim, Jorgen Kanters, Mads Melbye, David Hougaard, Anders Hviid, Lone Krebs, Morten Breindahl, Ulrik Lausten-Thomsen, Michael Christiansen
Summary: A nationwide COVID-19 lockdown in Denmark resulted in a reduced prevalence of extremely preterm or extremely low birthweight births. This study aimed to investigate the impact of the lockdown on term birthweights in Denmark. The findings showed a small but significant increase in birthweight during the lockdown period, primarily driven by an increase in birthweight in gestational weeks 40 and 41. Additionally, the proportion of infants with a large-for-gestational-age (LGA) increased during the lockdown.
Article
Medicine, General & Internal
Giulia Corn, Mads Melbye, Mark A. Hlatky, Jan Wohlfahrt, Marie Lund
Summary: A study found that low to moderate-intensity statins are more effective in reducing LDL-C levels in older adults compared to younger individuals, suggesting that they may be a more appealing initial treatment option for the elderly.
ANNALS OF INTERNAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Niklas Worm Andersson, Giulia Corn, Tine Lovso Dohlmann, Mads Melbye, Jan Wohlfahrt, Marie Lund
Summary: Reducing LDL cholesterol through lipid-lowering therapy has been shown to effectively lower the risk of cardiovascular disease in individuals under 70 years old, but the evidence is less clear for older individuals. This study compared the clinical effectiveness of lowering LDL cholesterol through lipid-lowering therapy for primary prevention of cardiovascular disease in older and younger individuals, and found that the risk reduction effect was similar between the two age groups.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Clinical Neurology
Tina N. Munch, Paula L. Hedley, Christian M. Hagen, Marie Baekvad-Hansen, Frank Geller, Jonas Bybjerg-Grauholm, Merete Nordentoft, Anders D. Borglum, Thomas M. Werge, Mads Melbye, David M. Hougaard, Lars A. Larsen, Soren T. Christensen, Michael Christiansen
Summary: Munch et al. conducted a study to investigate the genetic factors associated with hydrocephalus using whole-exome sequencing. They found that hydrocephalus is often linked to ciliary diseases and may be accompanied by other brain disorders. The study also identified genes that play a role in ciliary function and autism spectrum disorder.
BRAIN COMMUNICATIONS
(2022)
Article
Rheumatology
A. Chen, C. Mammen, J. Guzman, E. Al-Abadi, S. M. Benseler, R. A. Berard, D. Gerstbacher, M. Heshin-Bekenstein, S. Kim, M. Klein-Gitelman, P. P. Chavan, K. E. James, N. Martin, F. McErlane, C. Myrup, D. G. Noone, J. Raghuram, S. Shenoi, V Sivaraman, T. Tanner, R. S. M. Yeung, D. A. Cabral, K. A. Morishita
Summary: There is a lack of specific guidelines for optimal glucocorticoid dosing in pediatric ANCA-associated vasculitis (pAAV). This study found that lower glucocorticoid doses can reduce toxicity without reducing efficacy in pAAV-related renal disease. Higher glucocorticoid doses were associated with renal failure and plasmapheresis use, and adverse effects were high across all dosing groups. Glucocorticoid dosing did not associate with 12-month outcomes.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2022)