Results 21 to 30 of about 507,761 (297)

Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?

open access: yesCase Reports in Pediatrics, 2017
Introduction. Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. Case Presentation.
Timothy Andrew Walsh   +2 more
doaj   +1 more source

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number

open access: yesInternational Journal of Neonatal Screening, 2021
Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS).
Binod Kumar   +6 more
doaj   +1 more source

Goodbye flat lymphoma biology

open access: yesFEBS Letters, EarlyView.
Three‐dimensional (3D) biological systems have become key tools in lymphoma research, offering reliable in vitro and ex vivo platforms to explore pathogenesis and support precision medicine. This review highlights current 3D non‐Hodgkin lymphoma models, detailing their features, advantages, and limitations, and provides a broad perspective on future ...
Carla Faria   +3 more
wiley   +1 more source

Psychiatric admission during pregnancy in women with schizophrenia who attended a specialist antenatal clinic

open access: yesJournal of Psychosomatic Obstetrics and Gynecology, 2019
Objectives: The mental health and wellbeing of pregnant women with schizophrenia is an area of research interest. We aim to explore this relationship particularly in regards to psychiatric admission rates, timing and their associated contributing factors.
Elly Lorraine Harris   +4 more
doaj   +1 more source

Implementing maternal death surveillance and response: a review of lessons from country case studies

open access: yesBMC Pregnancy and Childbirth, 2017
Background Maternal Death Surveillance and Response (MDSR) implementation is monitored globally, but not much is known about what works well, where and why in scaling up.
Helen Smith   +4 more
doaj   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

open access: yesFEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile   +8 more
wiley   +1 more source

A Pregnancy Case of Primary Mediastinal Large B Cell Lymphoma with Superior Vena Cava Syndrome

open access: yesCase Reports in Obstetrics and Gynecology, 2021
Primary mediastinal large B cell lymphoma (PMLBCL) is a subtype of non-Hodgkin’s lymphoma which presents rarely in pregnancy. It is an aggressive tumour that is associated with symptoms of superior vena cava (SVC) compression and airway compromise such ...
Lauren Brownhalls   +3 more
doaj   +1 more source

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

open access: yesFEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona   +4 more
wiley   +1 more source

Protein kinase FAM20C—when subcellular localization matters

open access: yesFEBS Letters, EarlyView.
FAM20C is a Golgi‐resident kinase that phosphorylates proteins along the entire secretory pathway. The presence of potential FAM20C substrates in the cytoplasm or nucleus raises the question of how the kinase and its substrates encounter each other. Protein kinases achieve signaling specificity through consensus sequence recognition and subcellular ...
Francesca Noventa, Mauro Salvi
wiley   +1 more source

Lithium exposure during pregnancy: outcomes for women who attended a specialist antenatal clinic

open access: yesJournal of Psychosomatic Obstetrics and Gynecology, 2018
Introduction: Lithium treatment in pregnancy represents a significant dilemma for women and treating health professionals alike. The complexity of risk-benefit analysis is impacted by limited information.
Jacqueline Frayne   +4 more
doaj   +1 more source

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