Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant

2021 ◽  
Author(s):  
Unai Hernández Dorronsoro ◽  
Pawel Gawlinski ◽  
Amaia Lasa‐Aranzasti ◽  
Itziar Martínez‐Soroa ◽  
Elena Artola Aizalde ◽  
...  
Keyword(s):  
De Novo ◽  
Overgrowth Syndrome

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

2015 ◽  
Vol 166 (2) ◽  
pp. 483-486 ◽  
Author(s):  
Toshiki Takenouchi ◽  
Yu Yamaguchi ◽  
Akiko Tanikawa ◽  
Rika Kosaki ◽  
Hideyuki Okano ◽  
...  
Keyword(s):  
De Novo ◽  
Overgrowth Syndrome

scholarly journals DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults

Blood ◽  
2021 ◽  
Author(s):  
Margaret A Ferris ◽  
Amanda M Smith ◽  
Sharon E Heath ◽  
Eric J Duncavage ◽  
Matthew J Oberley ◽  
...  
Keyword(s):  
Natural History ◽  
De Novo ◽  
Rare Condition ◽  
Normal Karyotype ◽  
Hematologic Malignancies ◽  
Tall Stature ◽  
Cancer Predisposition Syndrome ◽  
Overgrowth Syndrome ◽  
Genes Encoding ◽  
History Of

DNMT3A Overgrowth Syndrome (DOS, also known as Tatton-Brown Rahman Syndrome/TBRS) is one of several overgrowth syndromes with complex phenotypes caused by constitutional mutations in genes encoding epigenetic regulators. The clinical features of DOS are variable but include overgrowth (tall stature and/or obesity) and intellectual disability. DNMT3A is essential for de novo DNA methylation and plays an important role in hematopoiesis. Somatic mutations in DNMT3A are among the most common initiating mutations in normal karyotype acute myeloid leukemia (AML) patients and in elderly people with clonal hematopoiesis. The natural history of DOS has not been fully explored since the first description of this rare condition in 2014. Because of the association of somatic DNMT3A mutations and leukemia development, we assessed information from the ~200 known DOS patients world-wide and were able to document eight with hematologic malignancies. Based on this prevalence, we suggest DOS is a cancer predisposition syndrome, especially for hematologic malignancies. Using recommendations from an expert panel, we suggest DOS patients should be prospectively monitored for hematologic malignancies, which may allow for early intervention and permit its natural history to be better defined.

scholarly journals De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome

2017 ◽  
Vol 173 (6) ◽  
pp. 1656-1662 ◽  
Author(s):  
Angela Sagar ◽  
Dalila Pinto ◽  
Fedra Najjar ◽  
Stephen J. Guter ◽  
Carol Macmillan ◽  
...  
Keyword(s):  
De Novo ◽  
Unbalanced Translocation ◽  
Overgrowth Syndrome

scholarly journals Decreased level of consciousness in a toddler with overgrowth syndrome

2018 ◽  
Vol 86 (S1) ◽  
pp. 6-8
Author(s):  
Stephanie Fong ◽  
Alistair Scott ◽  
Dora Laczko
Keyword(s):  
Rare Diseases ◽  
De Novo ◽  
Chromosome Region ◽  
Treatment Plan ◽  
Disease Process ◽  
Microdeletion Syndrome ◽  
Multiple Systems ◽  
Overgrowth Syndrome ◽  
Level Of Consciousness ◽  
Cacna1a Gene

Physicians caring for patients with rare diseases face unique challenges in managing symptoms, ordering diagnostic tests, and providing patients and families with anticipatory guidance. We describe the case of a toddler with overgrowth syndrome, and previously known ophthalmological and neurological findings, presenting with decreased level of consciousness (LOC) following a fall. We highlight the extensive workup undertaken in a patient with symptoms spanning multiple systems but lacking a unifying diagnosis. In this case, rapid whole exome sequencing identified a de novo CACNA1A gene mutation encoding a calcium channel subunit, located within chromosome region 19p13.13. We explore 19p13.13 Microdeletion Syndrome and compare our patient’s presentation to the cases described in the literature. Although our patient had several symptoms consistent with 19p13.13 Microdeletion Syndrome, others remain unexplained. This highlights the difficulty in determining a definitive diagnosis or treatment plan in the realm of rare diseases and emphasizes the need for further research into the disease process and development of novel therapies.

The Morphology of the Rat Kidney Following Folic Acid Administration

1970 ◽  
Vol 28 ◽  
pp. 200-201
Author(s):  
Aline Byrnes ◽  
Elsa E. Ramos ◽  
Minoru Suzuki ◽  
E.D. Mayfield
Keyword(s):  
Folic Acid ◽  
De Novo ◽  
Specific Activity ◽  
Rat Kidney ◽  
Present Report ◽  
Intracellular Localization ◽  
Male Rats ◽  
Renal Hypertrophy ◽  
Electron Microscopic ◽  
Biochemical Alterations

Renal hypertrophy was induced in 100 g male rats by the injection of 250 mg folic acid (FA) dissolved in 0.3 M NaHCO3/kg body weight (i.v.). Preliminary studies of the biochemical alterations in ribonucleic acid (RNA) metabolism of the renal tissue have been reported recently (1). They are: RNA content and concentration, orotic acid-c14 incorporation into RNA and acid soluble nucleotide pool, intracellular localization of the newly synthesized RNA, and the specific activity of enzymes of the de novo pyrimidine biosynthesis pathway. The present report describes the light and electron microscopic observations in these animals. For light microscopy, kidney slices were fixed in formalin, embedded, sectioned, and stained with H & E and PAS.

Early ossicle growth in the regenerating disc of a brittle star

1994 ◽  
Vol 52 ◽  
pp. 364-365
Author(s):  
M. Shlepr ◽  
R. L. Turner
Keyword(s):  
Cell Membrane ◽  
Light Microscopy ◽  
De Novo ◽  
Current Model ◽  
Syncytium Formation ◽  
Brittle Star ◽  
Intracellular Location ◽  
Limited Volume ◽  
Tissue Calcification

Calcification in the echinoderms occurs within a limited-volume cavity enclosed by cytoplasmic extensions of the mineral depositing cells, the sclerocytes. The current model of this process maintains that the sheath formed from these cytoplasmic extensions is syncytial. Prior studies indicate that syncytium formation might be dependent on sclerocyte density and not required for calcification. This model further envisions that ossicles formed de novo nucleate and grow intracellularly until the ossicle effectively outgrows the vacuole. Continued ossicle growth occurs within the sheath but external to the cell membrane. The initial intracellular location has been confirmed only for elements of the echinoid tooth.The regenerating aboral disc integument of ophiophragmus filograneus was used to test the current echinoderm calcification model. This tissue is free of calcite fragments, thus avoiding questions of cellular engulfment, and ossicles are formed de novo. The tissue calcification pattern was followed by light microscopy in both living and fixed preparations.

Arabidopsis 4-COUMAROYL-COA LIGASE 8 contributes to the biosynthesis of the benzenoid ring of coenzyme Q in peroxisomes

2019 ◽  
Vol 476 (22) ◽  
pp. 3521-3532
Author(s):  
Eric Soubeyrand ◽  
Megan Kelly ◽  
Shea A. Keene ◽  
Ann C. Bernert ◽  
Scott Latimer ◽  
...  
Keyword(s):  
Oxidative Metabolism ◽  
Time Course ◽  
Reverse Genetics ◽  
De Novo ◽  
Coenzyme Q ◽  
Control Level ◽  
Wild Type ◽  
Fluorescent Reporters ◽  
Coa Ligase ◽  
Peroxisomal Targeting

Plants have evolved the ability to derive the benzenoid moiety of the respiratory cofactor and antioxidant, ubiquinone (coenzyme Q), either from the β-oxidative metabolism of p-coumarate or from the peroxidative cleavage of kaempferol. Here, isotopic feeding assays, gene co-expression analysis and reverse genetics identified Arabidopsis 4-COUMARATE-COA LIGASE 8 (4-CL8; At5g38120) as a contributor to the β-oxidation of p-coumarate for ubiquinone biosynthesis. The enzyme is part of the same clade (V) of acyl-activating enzymes than At4g19010, a p-coumarate CoA ligase known to play a central role in the conversion of p-coumarate into 4-hydroxybenzoate. A 4-cl8 T-DNA knockout displayed a 20% decrease in ubiquinone content compared with wild-type plants, while 4-CL8 overexpression boosted ubiquinone content up to 150% of the control level. Similarly, the isotopic enrichment of ubiquinone's ring was decreased by 28% in the 4-cl8 knockout as compared with wild-type controls when Phe-[Ring-13C6] was fed to the plants. This metabolic blockage could be bypassed via the exogenous supply of 4-hydroxybenzoate, the product of p-coumarate β-oxidation. Arabidopsis 4-CL8 displays a canonical peroxisomal targeting sequence type 1, and confocal microscopy experiments using fused fluorescent reporters demonstrated that this enzyme is imported into peroxisomes. Time course feeding assays using Phe-[Ring-13C6] in a series of Arabidopsis single and double knockouts blocked in the β-oxidative metabolism of p-coumarate (4-cl8; at4g19010; at4g19010 × 4-cl8), flavonol biosynthesis (flavanone-3-hydroxylase), or both (at4g19010 × flavanone-3-hydroxylase) indicated that continuous high light treatments (500 µE m−2 s−1; 24 h) markedly stimulated the de novo biosynthesis of ubiquinone independently of kaempferol catabolism.

Mo1845 ASSOCIATION OF COMPLICATED DIVERTICULITIS WITH SUBSEQUENT DE NOVO INFLAMMATORY BOWEL DISEASE

2020 ◽  
Vol 158 (6) ◽  
pp. S-947
Author(s):  
Asad Ur Rahman ◽  
Ishtiaq Hussain ◽  
Badar Hasan ◽  
Kanwarpreet Tandon ◽  
Fernando Castro
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
De Novo ◽  
Complicated Diverticulitis ◽  
Inflammatory Bowel
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