Results 31 to 40 of about 2,656 (193)
American Journal of Perinatology Reports, 2015 Objective Surfactant protein B (SP-B) deficiency is a rare autosomal recessive disorder that is usually rapidly fatal. The c.397delCinsGAA mutation (121ins2) in exon 4 is found in more than two-thirds of patients. Design We report on a fatal
Stefan Kurath-Koller +4 more
doaj +1 more source
Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology
Developmental Dynamics, EarlyView.Abstract Maternal effects, encompassing both genetic (maternally expressed gene products) and non‐genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA‐level mechanisms remain incompletely resolved. In parallel, epitranscriptomics, an emerging field centered on chemical modifications to RNA, has revealed ...
Ehsan Pashay Ahi
wiley +1 more source
Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples [PDF]
Journal of Clinical Medicine, 2019 Background: Beta-thalassemias are blood disorders characterized by poorly understood clinical phenotypes ranging from asymptomatic to severe anemia. Metabolic composition of the human placenta could be affected by the presence of pathological states such as β-thalassemia. The aim of our study was to describe metabolic changes in chorionic villi samples
Giovanni Monni +7 more
openaire +2 more sources
Previable PROM in twins: A systematic review and meta‐analysis
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Background Previable prelabor rupture of membranes (PROM) in twin pregnancies is a rare but high‐risk condition associated with substantial neonatal mortality and maternal morbidity. Management options include expectant management and selective reduction, though guidance is limited and based primarily on singleton data.
Marwan Odeh +6 more
wiley +1 more source
Role of Prenatal Diagnosis in Thalassaemia Prevention
Journal of Rawalpindi Medical College, 2017 To determine the role of chorionic villi examination in the prenatal diagnosis of ß- thalassaemia Methods: In this descriptive study couples requesting prenatal diagnosis (PND) for ß- thalassaemia were registered for chorionic villous sampling after 10 ...
Nadeem Ikram
doaj
Chorionic Villi Sampling: A Nursing Perspective
Journal of Obstetric, Gynecologic & Neonatal Nursing, 1988 A relatively new procedure, chorionic villi sampling is now available as an alternative method for prenatal diagnoses of genetic disorders during pregnancy. Indications, procedures, risks, advantages, and nursing implications of this procedure are defined and described.
openaire +2 more sources
Journal of Periodontology, EarlyView.Abstract Background Bifidobacterium animalis subsp. lactis HN019 (B. lactis HN019) is a probiotic bacterial strain with immunomodulatory properties. Its benefits have been observed in healthy and systemically compromised animals with periodontitis (PD). Our objective was to investigate the local and systemic effects of the systemic administration of B.
Átila V. V. Nobre +10 more
wiley +1 more source
Journal of Ultrasound in Medicine, EarlyView.Chorionic villus sampling (CVS) is a crucial prenatal diagnostic tool, but a declining number of procedures makes training a challenge. Here we describe a transcervical CVS simulator made from ballistic gelatin. Ninety‐three Maternal‐Fetal Medicine providers used the simulators during hands‐on workshops and completed surveys regarding their fidelity ...
Joshua F Nitsche +3 more
wiley +1 more source
Hemophilia A: An Ideal Disease for Prenatal Therapy
Prenatal Diagnosis, EarlyView.ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada +2 more
wiley +1 more source
Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?
Prenatal Diagnosis, EarlyView.ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley +1 more source