JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Leukocyte Biology"
DOI: 10.1002/jlb.4a0118-030rr
Abstract: Mutations in the gene JAGN1 were recently discovered in patients with severe congenital neutropenia (SCN). Neutrophils release neutrophil extracellular traps (NETs) consisting of decondensed chromatin decorated with various granular proteins such as neutrophil elastase and… read more here.
Keywords: neutrophil extracellular; jagn1; congenital neutropenia; jagn1 required ... See more keywords
Two different techniques for frontalis suspension using Gore-Tex to treat severe congenital ptosis
Sign Up to like & getrecommendations! Published in 2017 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-017-3611-3
Abstract: PurposeSevere congenital ptosis is commonly associated with poor levator function. This study compares the functional and cosmetic outcomes of open versus closed frontalis sling using Gore-Tex in the treatment of such conditions.MethodsRandomized interventional comparative case… read more here.
Keywords: using gore; group; severe congenital; gore tex ... See more keywords
SARS-CoV-2 Infection in a Child with Severe Congenital Neutropenia
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-021-01054-y
Abstract: The global pandemic of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection has resulted in unprecedented anxiety and fear among many patient communities, especially those with underlying immunological perturbations. From the very beginning of this novel… read more here.
Keywords: infection; severe congenital; infection child; child severe ... See more keywords
Human iPSC-based model of severe congenital neutropenia reveals elevated UPR and DNA damage in CD34+ cells preceding leukemic transformation.
Sign Up to like & getrecommendations! Published in 2019 at "Experimental hematology"
DOI: 10.1016/j.exphem.2018.12.006
Abstract: We describe the establishment of an embryoid-body-based protocol for hematopoietic/myeloid differentiation of human induced pluripotent stem cells that allows the generation of CD34+ cells or mature myeloid cells in vitro. Using this model, we were… read more here.
Keywords: dna damage; congenital neutropenia; cd34 cells; severe congenital ... See more keywords
Evaluation of the effects of mesenchymal stem cells on neutrophils isolated from severe congenital neutropenia patients.
Sign Up to like & getrecommendations! Published in 2020 at "International immunopharmacology"
DOI: 10.1016/j.intimp.2020.106463
Abstract: Neutrophils are the most abundant, yet with the shortest lifespan among the circulating leukocytes. These cells are produced in the bone marrow during granulopoiesis process. Severe congenital neutropenia (SCN) is a hematological disorder with disturbance… read more here.
Keywords: neutrophils isolated; congenital neutropenia; severe congenital; stem cells ... See more keywords
Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.
Sign Up to like & getrecommendations! Published in 2020 at "Structure"
DOI: 10.1016/j.str.2020.09.008
Abstract: The SRP54 GTPase is a key component of co-translational protein targeting by the signal recognition particle (SRP). Point mutations in SRP54 have been recently shown to lead to a form of severe congenital neutropenia displaying… read more here.
Keywords: srp54 mutations; functional impact; congenital neutropenia; severe congenital ... See more keywords
Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1670724
Abstract: We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2… read more here.
Keywords: congenital neutropenia; elane; severe congenital; girl severe ... See more keywords
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
Sign Up to like & getrecommendations! Published in 2022 at "Thrombosis and haemostasis"
DOI: 10.1055/s-0041-1742207
Abstract: The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and… read more here.
Keywords: defect; gne; thrombocytopenia; platelet ... See more keywords
Family Knowledge, Attitudes, and Practices Toward Severe Congenital Neutropenia
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002634
Abstract: Severe congenital neutropenia is a rare disorder. The survival and quality of life of patients radically improved through infection prevention, use of granulocyte colony-stimulating factor, and the appropriate use of antibiotics during infections. The aim… read more here.
Keywords: family knowledge; knowledge attitudes; congenital neutropenia; knowledge ... See more keywords
Laryngeal keel in severe congenital glottic web: case report and review of literature
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-244263
Abstract: Glottic web is an abnormal soft tissue adhesion between the vocal cords which occurs due to failure of recanalisation. Congenital glottic webs comprises 5% of laryngeal anomalies. Cohen classified glottic webs into four types based… read more here.
Keywords: severe congenital; congenital glottic; keel; glottic web ... See more keywords
Mothering Rodney in 1971: An Autoethnography of the Life and Death of My Baby Born With Severe Congenital Heart Defects
Sign Up to like & getrecommendations! Published in 2018 at "Qualitative Inquiry"
DOI: 10.1177/1077800417704463
Abstract: Rodney lived for 14 weeks in 1971. He was my second child. My other two children died of unrelated causes in 1983 and 2005. This autoethnographical account explores my experience of mothering a baby with… read more here.
Keywords: rodney; severe congenital; baby; congenital heart ... See more keywords