| 1. |
- Granéli, Christina, et al.
(author)
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Outcome after Computer-Assisted (Robotic) Nissen Fundoplication in Children Measured as Pre- and Postoperative Acid Reducing and Asthma Medications Use.
- 2015
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In: European Journal of Pediatric Surgery. - : Georg Thieme Verlag KG. - 1439-359X .- 0939-7248. ; 25:6, s. 532-536
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Journal article (peer-reviewed)abstract
- Purpose This study aims to report the clinical outcome of computer-assisted fundoplication (CAF) in children. Methods As our center changed policy to using computer-assisted surgery only, a prospectively studied cohort of 40 children underwent CAF, during the period from January 2006 through May 2013. The collected data include patient demographics and postoperative complications as well as medication, 24-hour pH measurements and DeMeester scores before and after surgery. Results In the studied group, the median percentage of the duration of the 24-hour pH < 4 decreased postoperatively from 11 (range, 5-39) to 1% (range, 0-12) (p < 0.001); the DeMeester score decreased from 40 (range, 17-137) to 5 (range, 1-42) (p < 0.001). All 40 patients required antireflux medication before the fundoplication. This number decreased significantly to 8 (20%) after the fundoplication (p < 0.001). Before the fundoplication, 22 children (55%) were using asthma medication and 12 (30%) after the fundoplication (p = 0.04). Conclusions The CAF significantly reduced the acid reflux from the stomach to the esophagus and the use of antireflux as well as asthma medication during the median observation period of 5 years. The evidence of advantages compared with conventional laparoscopic fundoplication remain to be confirmed.
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| 2. |
- Korberg, Izabella Baranowska, et al.
(author)
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WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish
- 2015
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:18, s. 5069-5078
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Journal article (peer-reviewed)abstract
- Bladder exstrophy, a severe congenital urological malformation when a child is born with an open urinary bladder, is the most common form of bladder exstrophy-epispadias complex (BEEC) with an incidence of 1: 30,000 children of Caucasian descent. Recent studies suggest that WNT genes may contribute to the etiology of bladder exstrophy. Here, we evaluated WNT-pathway genes in 20 bladder exstrophy patients using massively parallel sequencing. In total 13 variants were identified in WNT3, WNT6, WNT7A, WNT8B, WNT10A, WNT11, WNT16, FZD5, LRP1 and LRP10 genes and predicted as potentially disease causing, of which seven variants were novel. One variant, identified in a patient with a de novo nonsynonymous substitution in WNT3 (p.Cys91Arg), was further evaluated in zebrafish. Knock down of wnt3 in zebrafish showed cloaca malformations, including disorganization of the cloaca epithelium and expansion of the cloaca lumen. Our study suggests that the function of the WNT3 p.Cys91Arg variant was altered, since RNA overexpression of mutant Wnt3 RNA does not result in embryonic lethality as seen with wild-type WNT3 mRNA. Finally, we also mutation screened the WNT3 gene further in 410 DNA samples from BEEC cases and identified one additional mutation c.638G> A (p.Gly213Asp), which was paternally inherited. In aggregate our data support the involvement of WNT-pathway genes in BEEC and suggest that WNT3 in itself is a rare cause of BEEC.
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| 3. |
- Zhang, Rong, et al.
(author)
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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
- 2017
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
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Journal article (peer-reviewed)abstract
- Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 x 10(-08)). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 x 10(-19). Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.
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