Duplication
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Duplikatury trávicího ústrojí jsou poměrně vzácné vývojové anomálie. Vyskytují se v celém průběhu trávícího ústrojí, nejčastěji však na tenkém střevě. Jsou diagnostikovány většinou v ranném dětském věku, ale mohou být i asymptomatické a projevit se až v dospělosti. Dominujícím klinickým obrazem jsou symptomy „náhlé příhody břišní“, a to od příznaků střevní obstrukce, přes perforaci až ke krvácení z GIT. Vzácným nálezem je i přítomnost karcinomu v duplikatuře. Jejich etiopatogeneze není v současnosti ještě spolehlivě objasněna. Léčba je pouze chirurgická. Autoři předkládají kazuistiku duplikatury terminálního ilea u dítěte s příznaky střevní obstrukce, resp. invaginace.
Duplications of the gastorintestinal tract are fairly rare developmental anomalies. They may occur throughout the gastrointestinal tract, however, most commonly, they occur in the small intestine. They are usually diagnosed in early childhood, however, they may be asymptomatic first and cause symptoms as late as in adulthood. Symptoms of „urgent abdominal conditions“, ranging from symptoms of intestinal obstruction, perforation to symptoms of bleeding from the GIT, prevail. A rare finding of a carcinoma in the duplication has been recorded. The etiopathogenesis has not been fully understood. The treatment is surgical. The authors present a case-review of the terminal ileum duplication in a child with symptoms of intestinal obstruction, resp. invagination.
- MeSH
- abnormality trávicího systému diagnóza chirurgie komplikace MeSH
- akutní bolest břicha etiologie chirurgie MeSH
- chirurgie trávicího traktu MeSH
- lidé MeSH
- nemoci ilea diagnóza chirurgie terapie MeSH
- předškolní dítě MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- Publikační typ
- kazuistiky MeSH
The 17q12 chromosomal region carries the HNF1B gene, mutations of which cause various conditions. When searching for HNF1B/17q12 rearrangements among children with biliary atresia and/or choledochal cysts, we identified a male proband carrying a 17q12 duplication spanning 1698 kb that included 24 genes from TBC1D3C to HNF1B. The boy presented with cholestatic jaundice at the age of 2 weeks due to a choledochal cyst sized 15 ×12 mm (type Ia according to the Todani classification). He underwent a shunt surgery consisting of a hepaticojejunostomy using Roux-en-Y loop at the age of 2 months, which led to a permanent relief of cholestasis. Perioperative liver histology revealed significant hepatic fibrosis and bile ductular proliferation. At 17 years, he has a mildly enlarged liver with decreased elasticity, an upper-normal-sized spleen, normal biochemistry values, and no renal or hepatic cysts. We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.
- MeSH
- cysta choledochu genetika MeSH
- duplikace chromozomů * MeSH
- genová dávka * MeSH
- hepatocytární jaderný faktor 1-beta genetika MeSH
- jaterní cirhóza patologie MeSH
- játra chirurgie MeSH
- jejunum chirurgie MeSH
- lidé MeSH
- lidské chromozomy, pár 17 genetika MeSH
- novorozenec MeSH
- Rouxova Y-anastomóza MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Recent studies suggest that duplication of the 9p24.3 chromosomal locus, which includes the DOCK8 and KANK1 genes, is associated with autism spectrum disorders (ASD), intellectual disability/developmental delay (ID/DD), learning problems, language disorders, hyperactivity, and epilepsy. Correlation between this duplication and the carrier phenotype needs further discussion. METHODS: In this study, three unrelated patients with ID/DD and ASD underwent SNP aCGH and MLPA testing. Similarities in the phenotypes of patients with 9p24.3, 15q11.2, and 16p11.2 duplications were also observed. RESULTS: All patients with ID/DD and ASD carried the 9p24.3 duplication and showed intragenic duplication of DOCK8. Additionally, two patients had ADHD, one was hearing impaired and obese, and one had macrocephaly. Inheritance of the 9p24.3 duplication was confirmed in one patient and his sibling. In one patient KANK1 was duplicated along with DOCK8. Carriers of 9p24.3, 15q11.2, and 16p11.2 duplications showed several phenotypic similarities, with ID/DD more strongly associated with duplication of 9p24.3 than of 15q11.2 and 16p11.2. CONCLUSION: We concluded that 9p24.3 is a likely cause of ASD and ID/DD, especially in cases of DOCK8 intragenic duplication. DOCK8 is a likely causative gene, and KANK1 aberrations a modulator, of the clinical phenotype observed. Other modulators were not excluded.
- MeSH
- adaptorové proteiny signální transdukční genetika MeSH
- chromozomální poruchy genetika patologie MeSH
- cytoskeletální proteiny genetika MeSH
- dítě MeSH
- duplikace chromozomů * MeSH
- fenotyp * MeSH
- lidé MeSH
- lidské chromozomy, pár 9 genetika MeSH
- předškolní dítě MeSH
- výměnné faktory guaninnukleotidů genetika MeSH
- vývojové poruchy u dětí genetika patologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Úvod: Črevné duplikatúry ako kongenitálne lézie sa nemusia prejaviť klinickou symptomatológiou. Cieľompráce je poukázať na skutočnosť, žemôžu byť zriedkavou príčinou náhlej brušnej príhody v detskom veku, na ktorú je potrebné myslieť v rámci diferenciálnej diagnostiky. Pacienti a metodika: Autori v článku predkladajú 3 prípady, kedy črevná duplikatúra bola príčinou klinických ťažkostí, s ktorými boli deti hospitalizované na Klinike detskej chirurgie LFUK v DFNsP v Bratislave. Symptómy boli od nevýrazného nafukovania bruška až po typický obraz ileózneho stavu primechanickej prekážke. V diagnostike mala rozhodujúci význam brušná sonografia s typickým nálezom malej hrubostennej cysty. Výsledky: Vo všetkých prípadoch bolo terapeutickým postupom operačné riešenie s odstránením cysty a resekciou priľahlej časti čreva s primárnou anastomózou. Pooperačne neboli zaznamenané komplikácie. Záver: Črevné duplikatúry majú nešpecifické symptómy. Nález malej hrubostennej cysty pri ultrazvukovom vyšetrení sa javí typickým pre črevnú duplikatúru a môže byť dostatočnou indikáciou k chirurgickej explorácii.
Introduction: Intestinal duplications are congenital lesions, which can exist without clinical presentation. The aim of the study is to point out that some of them are the rare cause of acute abdomen in children. Authors have to take care of them in differential diagnostics. Patients and methods: Authors present 3 patients admitted at the Department of Pediatric Surgery in Bratislava. Non specific clinical picture originated from intestinal duplication. Symptoms varied fromweakmeteorismto typical picture of acute abdomen caused by mechanical intestinal obstruction. Abdominal ultrasound made a difference in the diagnostics with presentation of small cyst with thick wall. Results: All the children were operated on, the cyst was removed and resection of the contiguous part of the intestine with primary anastomosis was done. There were no complications after the operation. Conclusion: Intestinal duplications have non specific clinical presentation. It seems that abdominal ultrasound makes the difference in the diagnostics. The typical finding is the small cyst with thick wall, which can be enough for surgical exploration.
- MeSH
- akutní bolest břicha diagnóza etiologie terapie MeSH
- chirurgie trávicího traktu metody využití MeSH
- diferenciální diagnóza MeSH
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- pneumatosis cystoides intestinalis diagnóza chirurgie terapie MeSH
- vrozené vady diagnóza chirurgie terapie MeSH
- vrozené, dědičné a novorozenecké nemoci a abnormality diagnóza chirurgie terapie MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
BACKGROUND: Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the phenotype as well. AIMS: We report on a patient, the fifth to our knowledge, a 4-year-old girl with a pure de novo subtelomeric 17p13.2-pter duplication. She presents all of the facial features described so far for this duplication and in addition, a unilateral palmar transversal crease and oculocutaneous albinism which has not been reported previously. METHODS: A detailed molecular description of the reported aberration and correlation with the observed phenotypical features based on a literature review. We discuss the possible molecular etiology of albinism in regard to the mode of inheritance. CONCLUSION: The new data provided here may be useful for further genotype correlations in syndromes with oculocutaneous albinism, especially of autosomal dominant inheritance.
- MeSH
- albinismus generalizovaný genetika MeSH
- duplikace chromozomů genetika MeSH
- hybridizace in situ fluorescenční MeSH
- lidé MeSH
- lidské chromozomy, pár 19 genetika MeSH
- předškolní dítě MeSH
- Check Tag
- lidé MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
Plants and fungi use light and other signals to regulate development, growth, and metabolism. The fruiting bodies of the fungus Phycomyces blakesleeanus are single cells that react to environmental cues, including light, but the mechanisms are largely unknown [1]. The related fungus Mucor circinelloides is an opportunistic human pathogen that changes its mode of growth upon receipt of signals from the environment to facilitate pathogenesis [2]. Understanding how these organisms respond to environmental cues should provide insights into the mechanisms of sensory perception and signal transduction by a single eukaryotic cell, and their role in pathogenesis. We sequenced the genomes of P. blakesleeanus and M. circinelloides and show that they have been shaped by an extensive genome duplication or, most likely, a whole-genome duplication (WGD), which is rarely observed in fungi [3-6]. We show that the genome duplication has expanded gene families, including those involved in signal transduction, and that duplicated genes have specialized, as evidenced by differences in their regulation by light. The transcriptional response to light varies with the developmental stage and is still observed in a photoreceptor mutant of P. blakesleeanus. A phototropic mutant of P. blakesleeanus with a heterozygous mutation in the photoreceptor gene madA demonstrates that photosensor dosage is important for the magnitude of signal transduction. We conclude that the genome duplication provided the means to improve signal transduction for enhanced perception of environmental signals. Our results will help to understand the role of genome dynamics in the evolution of sensory perception in eukaryotes.
- MeSH
- duplikace genu * MeSH
- genetická transkripce účinky záření MeSH
- genom fungální * MeSH
- molekulární evoluce * MeSH
- Mucor genetika účinky záření MeSH
- multigenová rodina MeSH
- percepce MeSH
- Phycomyces genetika účinky záření MeSH
- signální transdukce genetika MeSH
- světlo MeSH
- Publikační typ
- časopisecké články MeSH
Chromosomal band 17q12 is a gene-rich region flanked by segmental duplications, making the region prone to deletions and duplications via the non-allelic homologous recombination mechanism. While deletions cause a well-described disorder with a specific phenotype called renal cysts and diabetes mellitus, the phenotype caused by reciprocal duplications is less specific, primarily because of variable expressivity, and incomplete penetrance. We present an unusual family with four children carrying the 17q12 microduplication inherited from their clinically healthy mother, who was a carrier of both the duplication and, interestingly, also of an atypical deletion of the 17q12 region. The duplication was inherited from her diabetic father and the deletion from her diabetic mother who also suffered from a renal disorder. Clinical manifestations in the family were variable, but all children showed some degree of a neurodevelopmental disorder, such as epilepsy, intellectual disability, delayed speech development, or attention deficit disorder. The simultaneous occurrence of a deletion and duplication in the same chromosomal region in one family is very rare, and to our knowledge, individuals carrying both a deletion and a duplication of this region have never been described.
- MeSH
- chromozomální delece MeSH
- duplikace chromozomů genetika MeSH
- fenotyp MeSH
- lidé MeSH
- mentální retardace * genetika MeSH
- mnohočetné abnormality * genetika MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
Toll-like receptors (TLRs) are key sensor molecules in vertebrates triggering initial phases of immune responses to pathogens. The avian TLR family typically consists of ten receptors, each adapted to distinct ligands. To understand the complex evolutionary history of each avian TLR, we analyzed all members of the TLR family in the whole genome assemblies and target sequence data of 63 bird species covering all major avian clades. Our results indicate that gene duplication events most probably occurred in TLR1 before synapsids diversified from sauropsids. Unlike mammals, ssRNA-recognizing TLR7 has duplicated independently in several avian taxa, while flagellin-sensing TLR5 has pseudogenized multiple times in bird phylogeny. Our analysis revealed stronger positive, diversifying selection acting in TLR5 and the three-domain TLRs (TLR10 [TLR1A], TLR1 [TLR1B], TLR2A, TLR2B, TLR4) that face the extracellular space and bind complex ligands than in single-domain TLR15 and endosomal TLRs (TLR3, TLR7, TLR21). In total, 84 out of 306 positively selected sites were predicted to harbor substitutions dramatically changing the amino acid physicochemical properties. Furthermore, 105 positively selected sites were located in the known functionally relevant TLR regions. We found evidence for convergent evolution acting between birds and mammals at 54 of these sites. Our comparative study provides a comprehensive insight into the evolution of avian TLR genetic variability. Besides describing the history of avian TLR gene gain and gene loss, we also identified candidate positions in the receptors that have been likely shaped by direct molecular host-pathogen coevolutionary interactions and most probably play key functional roles in birds.
