Results 201 to 210 of about 17,532 (272)

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

The impact of insurance on equitable access to non-invasive prenatal screening (NIPT): private insurance may not pay. [PDF]

J Community Genet, 2021
Benoy ME, Iruretagoyena JI, Birkeland LE, Petty EM.   +3 more
europepmc   +1 more source

Machine learning approaches in automated infant General Movements Assessment: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Automated infant General Movements Assessment increasingly uses machine‐ and deep‐learning approaches to classify movement patterns and estimate cerebral palsy risk from video or sensor data. This scoping review highlights how dataset characteristics, recording environment, pose‐estimation accuracy, feature extraction, and model design influence system
Manpreet Kaur, Hamid Abbasi, Sîan A. Williams, Thor F. Besier, Angus J. C. McMorland   +4 more
wiley   +1 more source

The Role of Continuous Glucose Monitoring in Managing Hyperglycaemia First Detected in Pregnancy: A Narrative Review

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Hyperglycaemia first diagnosed in pregnancy (HIP) is the most common medical condition affecting pregnancy, affecting up to 40% of pregnancies in some countries. The global incidence of HIP is increasing owing to rising rates of overweight and obesity, advanced maternal age, and early screening for HIP.
Emmanuel Cosson, Laura Chabrol Haas, Fleur Levrat‐Guillen   +2 more
wiley   +1 more source

Advances and Challenges in the Multidisciplinary Treatment of Retroperitoneal Infantile Fibrosarcoma in Early Life

European Journal of Haematology, EarlyView.
ABSTRACT Background and Aims Retroperitoneal Infantile Fibrosarcoma (RIFS) is a rare, locally aggressive pediatric soft tissue tumor. Its retroperitoneal location poses challenges due to proximity and potential invasion of critical structures such as the inferior vena cava (IVC).
Gaia Brunetti, Angelo Zarfati, Giorgio Persano, Giuseppe Maria Milano, Ida Russo, Gian Luigi Natali, Rita Alaggio, Alessandro Crocoli, Chiara Grimaldi   +8 more
wiley   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, EarlyView.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses. [PDF]

PLoS One
Gazdarica J, Forgacova N, Sladecek T, Kucharik M, Budis J, Hyblova M, Sekelska M, Gnip A, Minarik G, Szemes T.   +9 more
europepmc   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

Seventh Åland Island Meeting on von Willebrand Disease

Haemophilia, EarlyView.
ABSTRACT Introduction The seventh Åland Island Meeting on von Willebrand Disease (VWD) was held on the Åland archipelago in Finland, from 26 to 28 September 2024. Aim The meeting brought together experts in the field of VWD from around the world to share the latest advances and knowledge in VWD.
Riitta Lassila, Ruben Bierings, Nathan T. Connell, Fernando F. Corrales‐Medina, Augusto B. Federici, Veronica H. Flood, Floor Heubel‐Moenen, Jill M. Johnsen, Geoffrey Kuppens, Davide Matino, Carolyn Millar, Ingmar Schoen, Anish Sharda, Robert F. Sidonio Jr, Alok Srivastava, Timea Szanto, Angela C. Weyand, Erik Berntorp   +17 more
wiley   +1 more source

Dialysis and Pregnancy: Optimizing Therapy for Best Maternal and Fetal Outcomes

Hemodialysis International, EarlyView.
ABSTRACT Pregnancy in women with end‐stage kidney disease (ESKD) requiring dialysis remains high risk, with significant maternal and fetal complications. While fertility rates are markedly reduced in this population, advances in dialysis care and obstetric management have led to increasing reports of successful pregnancies.
Shreepriya Mangalgi, Silvi Shah
wiley   +1 more source