Article
Endocrinology & Metabolism
Alexandra Efthymiadou, Ivan Gautschi, Miguel Xavier van Bemmelen, Amalia Sertedaki, Aristeidis Giannakopoulos, George Chrousos, Laurent Schild, Dionisios Chrysis
Summary: This study investigates the genetic cause of a mild and transient form of pseudohypoaldosteronism type 1 (PHA1). It is found that all 12 patients with PHA1 carry a homozygous missense mutation p.Phe226Cys in the a subunit of ENaC, which leads to a reduction in ENaC activity and explains the symptoms in these patients.
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM
(2023)
Article
Multidisciplinary Sciences
Dari Shalon, Rebecca Neal Culver, Jessica A. Grembi, Jacob Folz, Peter V. Treit, Handuo Shi, Florian A. Rosenberger, Les Dethlefsen, Xiandong Meng, Eitan Yaffe, Andres Aranda-Diaz, Philipp E. Geyer, Johannes B. Mueller-Reif, Sean Spencer, Andrew D. Patterson, George Triadafilopoulos, Susan P. Holmes, Matthias Mann, Oliver Fiehn, David A. Relman, Kerwyn Casey Huang
Summary: This study developed an ingestible device that can collect samples from multiple regions of the human intestinal tract during normal digestion. Multi-omics analysis of the collected samples revealed significant differences in bacteria, phages, host proteins, and metabolites between the intestines and stool. The study provides insights into the roles of the gut microbiome and metabolome in human physiology and disease through non-invasive longitudinal profiling of microorganisms, proteins, and bile acids along the intestinal tract.
Review
Endocrinology & Metabolism
Aihua Wu, Martin J. Wolley, Robert A. Fenton, Michael Stowasser
Summary: The thiazide-sensitive sodium chloride cotransporter (NCC) plays a major role in electrolyte balance and blood pressure regulation. The renal-K+ switch mechanism, which links dietary potassium intake to NCC activity, may offer new targets for blood pressure control. However, the lack of human data to confirm findings from animal models is a hurdle for full acceptance of this model. Urinary extracellular vesicles (uEVs) have potential as biomarkers for studying renal physiology and pathology. Challenges include the diverse origins and dynamic molecular composition of uEVs.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Multidisciplinary Sciences
Adela Urisarri, Ismael Gonzalez-Garcia, Anxela Estevez-Salguero, Maria P. Pata, Edward Milbank, Noemi Lopez, Natalia Mandia, Carmen Grijota-Martinez, Carlos A. Salgado, Ruben Nogueiras, Carlos Dieguez, Francesc Villarroya, Jose-Manuel Fernandez-Real, Maria L. Couce, Miguel Lopez
Summary: The study uses non-invasive infrared thermography to reveal the correlation between BAT activity and body temperature in newborns, showing that mild cold stimulus promotes BAT activation. Additionally, a short-term cold stimulus on the first day of life improves body temperature adaptation to subsequent cold events in newborns.
NATURE COMMUNICATIONS
(2021)
Article
Pediatrics
Vincent D. Gaertner, Christoph Martin Ruegger, Eoin O'Currain, C. Omar Farouk Kamlin, Stuart B. Hooper, Peter G. Davis, Laila Springer
Summary: The application of a face mask during neonatal stabilisation in term and late-preterm infants can lead to apnoea and bradycardia, with a higher incidence after the first application compared to subsequent ones. Healthcare providers need to be aware of these effects and be vigilant when using a face mask on newborn infants.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
(2021)
Article
Pediatrics
Hakon Stangeland Mundal, Arild Ronnestad, Claus Klingenberg, Hans Jorgen Stensvold, Ketil Stordal
Summary: The study found a significant decrease in the proportion of newborns treated with antibiotics during the study period, as well as a decline in treatment duration for newborns without culture-positive sepsis.
Article
Biochemistry & Molecular Biology
Jacopo Pieroni, Yuto Yamazaki, Xin Gao, Yuta Tezuka, Hiroko Ogata, Kei Omata, Yoshikiyo Ono, Ryo Morimoto, Yasuhiro Nakamura, Fumitoshi Satoh, Hironobu Sasano
Summary: The study revealed that in aldosterone-producing adenomas and idiopathic hyperaldosteronism, cells in the zona glomerulosa exhibited significantly higher levels of senescence compared to other regions. Additionally, laboratory findings of primary aldosteronism were significantly correlated with specific gene mutations.
Article
Biochemistry & Molecular Biology
Zehra Irshad, Jenny Lund, Anne Sillars, Nils Gunnar Lovsletten, Seley Gharanei, Ian P. Salt, Dilys J. Freeman, Jason M. R. Gill, G. Hege Thoresen, Arild C. Rustan, Victor A. Zammit
Summary: The roles of DGAT1 and DGAT2 in lipid metabolism and insulin responsiveness of human skeletal muscle were investigated using cryosections and myotubes. It was found that DGAT2 inhibition decreased fatty acid uptake and oxidation in myotubes, and also increased insulin-induced Akt phosphorylation. The effects of DGAT1 and DGAT2 inhibition on acetate uptake and metabolism in myotubes were different.
Article
Peripheral Vascular Disease
Horng H. Chen, Siu-Hin Wan, Seethalakshmi R. Iyer, Valentina Cannone, S. Jeson Sangaralingham, Joel Nuetel, John C. Burnett
Summary: MANP is a novel ANP analog with potent pharmacological effects, showing potential therapeutic effects for patients with hypertension.
Article
Pharmacology & Pharmacy
G. Clement Dobbins, David W. Kimberlin, Shannon A. Ross
Summary: This study analyzed the variation of CMV in two patients with cCMV who received antiviral therapy. The results showed that there was an increase in CMV variation in the infant with a shorter treatment duration, while the infant with a longer treatment duration did not show an increase in CMV variation. This suggests that antiviral therapy may have an impact on CMV diversity.
ANTIVIRAL RESEARCH
(2022)
Article
Peripheral Vascular Disease
James M. Luther, Dawei S. Wei, Kakali Ghoshal, Dungeng Peng, Gail K. Adler, Adina F. Turcu, Hui Nian, Chang Yu, Carmen C. Solorzano, Ambra Pozzi, Nancy J. Brown
Summary: Epoxyeicosatrienoic acids (EETs) are lipid signaling molecules generated by the action of CYP450s, with vasodilatory, anti-inflammatory, and insulin-enhancing effects. Treatment of primary aldosteronism led to an increase in EET concentrations, particularly 14,15-DHETs.
Article
Microbiology
Wenbing Hu, Wenyu Gao, Zongmin Liu, Zhifeng Fang, Jianxin Zhao, Hao Zhang, Wenwei Lu, Wei Chen
Summary: This study isolated 26 novel strains of Faecalibacterium prausnitzii from human feces and characterized their biodiversity and physiological characteristics. The strains were classified into two main phylogroups, and exhibited variations in ultrastructure, colony morphology, growth performance, and short-chain fatty acids-producing ability.
Review
Biochemistry & Molecular Biology
Aderonke E. Igbekele, George Jia, Michael A. Hill, James R. Sowers, Guanghong Jia
Summary: Systemic insulin resistance is characterized by reduced insulin signaling and glucose intolerance. Mineralocorticoid receptors (MRs) play a role in regulating renal sodium handling and blood pressure, and recent studies show their presence in tissues outside the kidney. Risk factors like excessive salt intake, hypertension, and obesity can activate vascular MRs, leading to inflammation, oxidative stress, remodeling, fibrosis, cardiovascular stiffening, and microcirculatory impairment. These changes contribute to vascular insulin resistance and reduced glucose uptake. Pharmacological inhibition of MR activation could potentially improve vascular function, glucose uptake, and insulin sensitivity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Anella Saggese, Rosa Giglio, Nicola D'Anzi, Loredana Baccigalupi, Ezio Ricca
Summary: Spore formers are ubiquitous microorganisms that can form spores in the gastrointestinal tract of animals, and they have beneficial effects on the gut, such as antimicrobial and antibiofilm activities.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Rosalieke E. Wiegel, Frauke Von Versen-Hoeynck, Regine P. M. Steegers-Theunissen, Eric A. P. Steegers, A. H. Jan Danser
Summary: Pregnancy involves significant cardiovascular, renal, and endocrine changes, with the renin-angiotensin-aldosterone system playing a key role in providing adequate blood supply for the growing fetus. Prorenin, released in large amounts during this adaptation process from the ovary and uteroplacental unit, is the focus of research on its effects during pregnancy, particularly related to conditions like preeclampsia. Future research directions include understanding the long-term consequences of inappropriate renin-angiotensin-aldosterone system activity in pregnancy and developing tools for diagnosing or preventing reproductive complications.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2021)
Article
Pediatrics
Marie Chevallier, Thierry Debillon, Brian A. Darlow, Anne R. Synnes, Veronique Pierrat, Elizabeth Hurrion, Junmin Yang, Anne Ego, Pierre Yves Ancel, Kei Lui, Prakeshkumar S. Shah, Thuy Mai Luu
Summary: The composite outcome of mortality and significant neurodisability in extremely preterm infants differed across high-income countries with similar baseline characteristics and access to healthcare. The French cohort (EPIPAGE-2) had higher rates of the composite outcome, primarily driven by increased mortality rates.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
(2022)
Article
Pediatrics
Alexandra Bower, Perrine Lorain, Gilles Kayem, Marc Dommergues, Laurence Foix-L'Helias, Isabelle Guellec
Summary: The study found that newborns with pathological foetal acidemia but without moderate or severe HIE may have metabolic disorders, require organ support, hospitalization, and blood sampling for detecting biological anomalies. Prospective studies are needed to establish consensus guidelines for managing this vulnerable population.
Article
Obstetrics & Gynecology
C. de Barbeyrac, P. Roth, C. Noel, O. Anselem, A. Gaudin, C. Roumegoux, B. Azcona, C. Castel, M. Noret, E. Letamendia, J. Stirnemann, Y. Ville, A. Lapillonne, M-L Viallard, E. Kermorvant-Duchemin
Summary: This multicentre study investigated prenatal decision-making processes and birth plans in pregnancies amenable to perinatal palliative care. Only 10% of severe fetal anomalies eligible for termination of pregnancy involved perinatal palliative care plans. The study found that perinatal palliative care may not be a universal alternative to termination of pregnancy.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Obstetrics & Gynecology
Elsa Lorthe, Mathilde Letouzey, Heloise Torchin, Laurence Foix L'Helias, Christele Gras-Le Guen, Valerie Benhammou, Pascal Boileau, Caroline Charlier, Gilles Kayem
Summary: This study compared different antibiotic prophylaxis after preterm premature rupture of membranes and found that prophylaxis based on third-generation cephalosporin may be associated with improved survival without severe neonatal morbidity compared to amoxicillin.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Pediatrics
Mathilde Letouzey, Elsa Lorthe, Laetitia Marchand-Martin, Gilles Kayem, Caroline Charlier, Marine Butin, Ayoub Mitha, Monique Kaminski, Valerie Benhammou, Pierre-Yves Ancel, Pascal Boileau, Laurence Foix-L'Helias
Summary: This study aims to assess the association between early empirical antibiotic therapy and adverse outcomes in very preterm infants. The study found that early antibiotic exposure was associated with an increased risk of severe cerebral lesions and moderate-severe bronchopulmonary dysplasia in very preterm infants at low risk of early-onset sepsis.
JOURNAL OF PEDIATRICS
(2022)
Article
Pediatrics
Paola Sikias, Valerie Biran, Laurence Foix-L'Helias, Celine Plainvert, Pascal Boileau, Stephane Bonacorsi
Summary: This population surveillance study provides data on the incidence, causative organisms, and antibiotic susceptibilities of early-onset sepsis in infants born at ≥34 weeks' gestation. The study highlights the higher frequency of group B Streptococcus (GBS) compared to Escherichia coli (E. coli) in term infants, and the significantly elevated risk of early-onset sepsis in late preterm infants due to E. coli. The findings suggest the need for improvement in the prevention of GBS early-onset sepsis and empiric antibiotic treatment of sepsis.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
(2023)
Article
Genetics & Heredity
Floriane Lejamtel, Cecile Oheix, Elisa Morales, Jelena Martinovic, Philippe Labrune, Francois Mickael Petit, Aline Receveur, Nelly Achour-Frydman, Alexandra Benachi, Chloe Puisney-Dakhli, Alexandre Joseph Vivanti
Summary: Increasing identification of neuro-susceptibility copy number variations (CNVs) has led to difficulties in predicting phenotypic features. The survey shows that multidisciplinary consultation is the key point in managing PIEV CNVs before conducting family surveys, which should be the basis for French recommendations.
Article
Peripheral Vascular Disease
Ly Tu, Raphael Thuillet, Julie Perrot, Mina Ottaviani, Emy Ponsardin, Peter Kolkhof, Marc Humbert, Say Viengchareun, Marc Lombes, Christophe Guignabert
Summary: Research showed that MR is overexpressed in preclinical models and human PAH, with inhibition by finerenone attenuating proliferation of pulmonary artery smooth muscle cells and partially reversing established pulmonary hypertension. The treatment also reduced total pulmonary vascular resistance and vascular remodeling, as well as decreasing inflammatory cell infiltration and vascular cell proliferation in rat lungs. This suggests that finerenone could be a potential therapy for PAH, warranting further investigation for clinical use alongside current treatments.
Letter
Pediatrics
Maroua Jlassi, Ludivine Lecoq, Pierre-Yves Wachter, Amelie Durandy, Pascal Boileau, Emmanuelle Motte-Signoret
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Isabelle Le Ray, Pierre Kuhn, Mathilde Letouzey, Jean-Michel Roue, Ayoub Mitha, Isabelle Glorieux, Laurence Foix-L'Helias, Laetitia Marchand-Martin, Pierre-Yves Ancel, Monique Kaminski, Veronique Pierrat
Summary: This observational study evaluated the association between early skin-to-skin contact (SSC) and the incidence of late-onset sepsis (LOS) in extremely and very preterm infants. The results showed that early SSC exposure was not associated with the risk of LOS or LONI.
PEDIATRIC RESEARCH
(2023)
Article
Pediatrics
Pascal Boileau, Mathilde Letouzey, Andrei S. Morgan, Elsa Lorthe, Monique Kaminski, Anaelle Coquelin, Elie Azria, Laurence Caeymaex, Florence Rouget, Caroline Diguisto, Olivier Claris, Barthelemy Tosello, Patrick Truffert, Pierre Betremieux, Valerie Benhammou, Laetitia Marchand-Martin, Francois Goffinet, Pierre-Yves Ancel, Laurence Foix-L'Helias
Summary: This study aims to describe the circumstances, causes, and timing of death in extremely preterm infants. The main causes of death were respiratory disease, CNS injury, and infection. Half of the deaths occurred within the first 7 days of life.
Article
Pediatrics
Emmanuelle Motte-Signoret, Marwa Jlassi, Ludivine Lecoq, Pierre-Yves Wachter, Amelie Durandy, Pascal Boileau
Summary: Very low birth weight (VLBW) neonates are at high risk of metabolic bone disease (MBD). This study aimed to find the easiest way to diagnose this disease early by identifying surrogate biomarkers before radiological signs appear. A 6-month observational study was conducted in a NICU, including all singleton VLBW neonates. Clinical and biological data, as well as nutritional intakes, were collected. Biological MBD (bMBD) was defined as alkaline phosphatase (ALP) levels above 600 IU/L at day of life 30 (DOL30), and a case-control analysis was performed. Out of 30 patients, 9 (30%) exhibited bMBD, all of whom had extremely low birth weight and were younger in gestational age and smaller in size at birth. There was no significant difference in nutritional intake between the bMBD and control groups. In the bMBD group, phosphatemia decreased since DOL3. ALP levels were already significantly elevated at DOL15, surpassing the normal range. Conclusions: Respectfully following nutritional guidelines does not completely prevent bMBD in high-risk patients. Early screening from DOL15, with ALP levels greater than 500 IU/L, could be sufficient for detecting upcoming MBD.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Medicine, General & Internal
Thomas Schmitz, Muriel Doret-Dion, Loic Sentilhes, Olivier Parant, Olivier Claris, Laurent Renesme, Julie Abbal, Aude Girault, Heloise Torchin, Marie Houllier, Nolwenn Le Sache, Alexandre J. Vivanti, Daniele De Luca, Norbert Winer, Cyril Flamant, Claire Thuillier, Pascal Boileau, Julie Blanc, Veronique Brevaut, Pierre-Emmanuel Bouet, Geraldine Gascoin, Gael Beucher, Valerie Datin-Dorriere, Stephane Bounan, Pascal Bolot, Christophe Poncelet, Corinne Alberti, Moreno Ursino, Camille Aupiais, Olivier Baud
Summary: Comparison between a full dose and a half dose of antenatal betamethasone for preterm delivery showed that the half dose was not non-inferior to the full dose in terms of preventing respiratory distress syndrome. Therefore, reducing the dose of antenatal betamethasone is not recommended.
