BERDONO SINDROMO (DIDELĖS ŠLAPIMO PŪSLĖS – MAŽOS GAUBTINĖS ŽARNOS – SUMAŽĖJUSIOS ŽARNŲ PERISTALTIKOS SINDROMO) KLINIKINIS ATVEJIS

Agnė Čibirkaitė; Paulina Tekoriutė; Evelina Bučionytė; Rūta Rokaitė

doi:10.35988/sm-hs.2021.010

BERDONO SINDROMO (DIDELĖS ŠLAPIMO PŪSLĖS – MAŽOS GAUBTINĖS ŽARNOS – SUMAŽĖJUSIOS ŽARNŲ PERISTALTIKOS SINDROMO) KLINIKINIS ATVEJIS

Mapping Intimacies ◽

10.35988/sm-hs.2021.010 ◽

2021 ◽

Vol 31 (1) ◽

pp. 50-54

Author(s):

Agnė Čibirkaitė ◽

Paulina Tekoriutė ◽

Evelina Bučionytė ◽

Rūta Rokaitė

Keyword(s):

De Novo ◽

Hypoperistalsis Syndrome

Berdono sindromas arba didelės šlapimo pūslės – mažos gaubtinės žarnos – sumažėjusios žarnų peristaltikos sindromas (angl. megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS)) yra labai retas, įgimtas ir gyvybei pavojingas sindromas, kurio tikslus paplitimas nėra žinomas. Šiame straipsnyje pristatomas Berdono sindromo klinikinis atvejis. Šio sindromo metu pasireiškia pasikartojantys dinaminio žarnyno nepraeinamumo simptomai bei šlapimo pūslės tonuso sutrikimai, sukeliantys šlapimo susilaikymą, nesant jokios distalinės obstrukcijos, kliudančios nutekėti šlapimui. Mūsų aprašomam pacientui šis sindromas buvo patvirtintas molekuliniais genetiniais metodais Japonijos Keio universitete, nustačius de novo atsiradusį ACTG2 geno c.769C>T, pArg257Cys heterozigotinį patogeninį variantą. Berdono sindromas gydomas tik simptomiškai – taikoma parenterinė mityba bei didelės šlapimo pūslės kateterizavimas.

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Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report

Fetal and Pediatric Pathology ◽

10.1080/15513815.2018.1445149 ◽

2018 ◽

Vol 37 (2) ◽

pp. 109-116 ◽

Cited By ~ 6

Author(s):

Elif Ünver Korğalı ◽

Amine Yavuz ◽

Cemile Ece Çağlar Şimşek ◽

Cengiz Güney ◽

Hande Küçük Kurtulgan ◽

...

Keyword(s):

Case Report ◽

Gene Mutation ◽

De Novo ◽

Hypoperistalsis Syndrome

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Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

PLoS Genetics ◽

10.1371/journal.pgen.1004258 ◽

2014 ◽

Vol 10 (3) ◽

pp. e1004258 ◽

Cited By ~ 74

Author(s):

Michael F. Wangler ◽

Claudia Gonzaga-Jauregui ◽

Tomasz Gambin ◽

Samantha Penney ◽

Timothy Moss ◽

...

Keyword(s):

Smooth Muscle ◽

De Novo ◽

Smooth Muscle Actin ◽

Muscle Actin ◽

Inherited Mutations ◽

Hypoperistalsis Syndrome

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New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

Fetal Diagnosis and Therapy ◽

10.1159/000381638 ◽

2015 ◽

Vol 38 (4) ◽

pp. 296-306 ◽

Cited By ~ 32

Author(s):

Lea Tuzovic ◽

Sha Tang ◽

Russell S. Miller ◽

Luis Rohena ◽

Layla Shahmirzadi ◽

...

Keyword(s):

Smooth Muscle ◽

Amniotic Fluid ◽

De Novo ◽

Smooth Muscle Actin ◽

Fluid Volume ◽

Muscle Actin ◽

Longitudinal Muscle Layer ◽

Gonadal Mosaicism ◽

Amniotic Fluid Volume ◽

Hypoperistalsis Syndrome

Objective: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. Methods: Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. Results: We identified a novel heterozygous de novo missense variant in ACTG2 c.770G>A (p.Arg257His) encoding γ-2 smooth muscle actin (ACTG2) in 2 siblings with MMIHS, suggesting gonadal mosaicism of one of the parents. Two additional de novo missense variants (p.Arg257Cys and p.Arg178His) in ACTG2 were identified in 2 additional MMHIS patients. All of our patients had evidence of fetal megacystis and a normal or slightly increased amniotic fluid volume. Additional findings included bilateral renal hydronephrosis, an enlarged fetal stomach, and transient dilated bowel loops. ACTG2 immunostaining of the intestinal tissue showed an altered muscularis propria, a markedly thinned longitudinal muscle layer, and a reduced amount and abnormal distribution of ACTG2. Conclusion: Our study demonstrates that de novo mutations in ACTG2 are a cause of fetal megacystis in MMIHS and that gonadal mosaicism may be present in a subset of cases. These findings have implications for the counseling of families with a diagnosis of fetal megacystis with a preserved amniotic fluid volume and associated gastrointestinal findings.

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The Morphology of the Rat Kidney Following Folic Acid Administration

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100067996 ◽

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.

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Early ossicle growth in the regenerating disc of a brittle star

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100169559 ◽

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.

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

Biochemical Journal ◽

10.1042/bcj20190688 ◽

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.

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