AIM:To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance ...protein 3 deficiency.METHODS:Mutational analysis of ABCB4,screening for copy number variations by multiplex ligation-dependent probe amplification,genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome(LPAC,OMIM#600803)and in 5young females with suspected LPAC and their families(5 probands,15 additional family members).The probands came to medical attention for contraceptiveassociated intrahepatic cholestasis.RESULTS:A possibly pathogenic variant of ABCB4was found only in one of the 35 pediatric subjects with idiopathic cholesterol gallstones whereas 15 members of the studied 5 LPAC kindreds were confirmed and another one was highly suspected to carry predictably pathogenic mutations in ABCB4.Among these 16,however,none developed gallstones in childhood.In 5index patients,all young females carrying at least one pathogenic mutation in one allele of ABCB4,manifestation of LPAC as intrahepatic cholestasis with elevated serum activity of gamma-glutamyltransferase was induced by hormonal contraceptives.Variants ABCB11c.1331T>C and ABCG8 c.55G>C were not significantly overrepresented in the 35 examined patients with suspect LPAC.CONCLUSION:Clinical criteria for LPAC syndrome caused by mutations in ABCB4 cannot be applied topediatric patients with idiopathic gallstones.Sexual immaturity even prevents manifestation of LPAC.
Detailed knowledge of habitat requirements is an essential prerequisite for efficient conservation of any endangered species. Despite the grain support beetle
Aegosoma scabricorne
(Cerambycidae) ...being one of the largest European beetles, and an endangered, disappearing, species in Central Europe, its bionomics remain relatively poorly known.
A. scabricorne
is known as a polyphagous species on broadleaved trees; thus, to investigate its habitat preferences 174 broadleaved trees (87 occupied and 87 unoccupied by the species) were surveyed in the area of southern Moravia (Czech Republic) in 2015. The species was found to be strongly associated with declining or freshly dead trees that are, preferably, further damaged (breakage of stem or primary branch, hollows, etc.) and it particularly thrives on large trees (diameter >50 cm). Surprisingly, stem exposure to the sun was shown to be an unimportant characteristic for this species. However, in this study the number of exit holes was significantly smaller on the shaded north-facing quarter of the stem. Our results suggest concrete conservation measures to support the species. We also suggest that this species may be used as an umbrella species for saproxylic beetles of European lowland forests.
Background and aims: Wilson disease (WD) is an inherited disorder of copper metabolism. When treated, the outcome can be excellent, although the long‐term survival has yet to be well documented. The ...aim of this study was to describe the long‐term outcome of a cohort of patients with WD and to assess those factors affecting the phenotypic manifestation of WD.
Methods: The presence of mutations to the ATP7B gene, the clinical manifestations, treatments and the long‐term outcomes were analysed retrospectively in 117 patients with WD (59 men and 58 women, aged at evaluation 38.5 ± 11, range 16–63 years).
Results: Fifty‐five patients with a neurological presentation, 51 patients with a hepatic presentation and 11 asymptomatic patients were followed up for an average of 15.1 ± 10 years (median 12 years, range 1–41 years). The H1069Q ATP7B gene mutation was the most frequent genetic variant (54.3%); the frequency of this mutation did not differ between patients with either the hepatic or the neurological presentation (P=0.099). d‐penicillamine or zinc salts (81 and 17% respectively) were used for treatment, and three patients underwent liver transplantation. The majority of symptomatic patients became asymptomatic, or improved, during the follow‐up (82% patients with hepatic presentation, 69% with neurological presentation). The long‐term survival of patients with WD did not differ from that of the general Czech population (P=0.95).
Conclusions: Long‐term follow‐up shows a satisfactory response in the great majority of adequately treated patients with WD and survival coincides with that of the general population.
Exclusive enteral nutrition (EEN) has been recommended as the first-line therapy in children with active Crohn disease (CD). The primary aim of our study was to determine whether it is possible to ...use the difference between basal fecal calprotectin (F-CPT) and the value at week 2 of EEN to predict clinical response at week 6. We prospectively collected stool samples for F-CPT analysis and clinical and laboratory parameters during EEN from 38 pediatric patients (28 boys, median age 12.8 years) with newly diagnosed active luminal CD. The difference between F-CPT concentrations before EEN and at week 2 did not predict clinical non-response at week 6 (OR 0.9996 95% CI 0.9989–1.0002,
p
= 0.18); however, it predicted patients who did not achieve clinical remission at week 6 (OR 0.9993, 95% CI 00.9985–0.9998,
p
= 0.006) with sensitivity of 58%, and specificity of 92% for cut-off of F-CPT increase by 486 μg/g.
Conclusions
: An early decrease in F-CPT levels in children with newly diagnosed active luminal CD did not predict clinical response at week 6 of EEN induction therapy, and clinical remission was predicted with low accuracy. Therefore, F-CPT cannot be used as a predictor to select the patients in whom EEN should be terminated.
What is Known:
•
The fecal calprotectin (F-CPT) is an important marker of intestinal inflammation.
•
Approximately 25% of pediatric patients with Crohn disease (CD) do not achieve clinical remission, and there is still no sufficient predictor of response to exclusive enteral nutrition (EEN) treatment.
What is New:
•
The difference between the F-CPT concentrations before EEN treatment and at week 2 did not predict clinical response to treatment at week 6, even if it predicted clinical remission, however, with low accuracy. F-CPT is not a suitable predictor to select the patients for discontinuing of EEN induction therapy.
Current studies indicate a link between the intake of exclusive enteral nutrition (EEN) and the induction of complex changes in the intestinal microbiota, as well as the clinical improvement of ...Crohn's disease (CD). The first aim of this study was to test the ability of various commensal bacterial strains (
= 19) such as bifidobacteria, lactobacilli, and
to grow on three different polymeric EN
. Tested EN formulas were found to be suitable growth media for tested commensals. Furthermore, the counts of these bacteria and total counts of anaerobic bacteria in the fecal samples of children with CD (
= 15) before and after 6 weeks of EEN diet administration were determined using cultivation on selective media. The counts of cultivable commensal bacteria in the fecal samples of CD children were not significantly affected by EEN. However, tested bacteria showed some individual shifts in counts before and after EEN therapy. Moreover, cultured bifidobacteria were found to be in reduced counts in CD children. Therefore, the application of bifidogenic prebiotic compounds to EN for CD patients might be considered.
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•Enteral nutrition (EN) formulas contain variable nutrient and prebiotic compounds.•Cultivable commensal bacteria of faecal microbiota are able to use EN formulas like growth media in ...vitro.•Composition differences of EN formulas affecting individual microbial shift and metabolite profile after cultivation.•Functional components should be personalised based on individual host microbiota.
Enteral nutrition (EN) formulas of polymeric type ordinarily have similar content of intact macronutrients but may vary in prebiotic saccharides and micronutrients. These components can play an important role in the intestinal microbiota modulation. The aim of this study was to investigate microbial changes of faecal samples after their in vitro anaerobic cultivation in four polymeric EN formulas using plate technique method, metabolite analysis, and microbiota profiling using 16S rRNA sequencing. Detected cultivable commensal groups (bifidobacteria, lactobacilli, Escherichia coli) in faecal samples of donors were able to grow in EN formulas. However, their counts varied depending on the individual donor and the type of EN formula. Similar trend was found in detected metabolites such as acetate, lactate, and butyrate. Also, taxonomic composition and diversity of original and cultivated faecal microbiota of one individual on different EN formula indicate a possible effect of the prebiotics and micronutrients to modulate gut microbiota.
Our aim was to isolate bifidobacteria and clostridia from infant faeces and to test the growth of bifidobacteria and clostridia on prebiotic oligosaccharides. Seventy breast-fed infants aged between ...3 and 253 days were tested for the presence of bifidobacteria and clostridia in their faeces. Ten strains of clostridia and 10 strains of bifidobacteria were isolated from infant faecal samples. Four strains of bifidobacteria originated from culture collections and 1 strain from fermented milk product were also tested. Subsequently, bacterial isolates were tested for their growth on prebiotic oligosaccharides in,
in vitro conditions. Forty-six infants exhibited high numbers of bifidobacteria (usually higher than 9
log
CFU/g) in their faeces. There were undetectable amounts of bifidobacteria in faecal samples in 24 of the studied infants (34%), these babies on the other hand possessed significant amounts of clostridia in their faecal flora. Both bifidobacteria and clostridia utilized all substrates tested. Bifidobacteria grew significantly better in the medium with galactooligosaccharides. Higher growth of clostridia was observed on raffinose and lactulose. Conversely, bifidobacteria grew slightly better in the medium with stachyose, inulin, Raftilose
® P85 and P95. However, these differences were not significant. Our results suggest that commercially available prebiotics support the growth of infant faecal clostridia. It is therefore questionable if bifidobacteria-deficient infants should be supplemented with prebiotics.
Prebiotics are used for stimulating the growth of beneficial microorganisms in the gut. However, it is very difficult to find a suitable prebiotic mixture that exclusively supports the growth of ...beneficial microbes such as bifidobacteria and lactobacilli. We tested the effects of a prebiotic mixture in vitro by incubating it with fecal samples and in vivo by administration of the prebiotic supplement to healthy adult volunteers, followed by analysis of their fecal microbiota. The effect of the oligosaccharides on bacterial metabolism was studied by analyzing short-chain fatty acid (SCFA) production in vitro and the SCFA pattern for the stool samples of volunteers. In the in vitro test, a higher proportion of bifidobacteria (25.77%) was seen in the total bacterial population after cultivation on a prebiotic mixture than on the control medium (7.94%). The gram-negative anaerobe count significantly decreased from 8.70 to 6.40 log CFU/g (from 35.21% to 0.60%) and the Escherichia coli count decreased from 7.41 to 6.27 log CFU/g (from 1.78% to 0.44%). Administration of a prebiotic mixture in vivo (9 g of galactooligosaccharides GOS+1 g of maltodextrins; daily for 5 days) significantly increased the fecal bifidobacterial count from 9.45 to 9.83 log CFU/g (from 40.80% to 53.85% of total bacteria) and reduced the E. coli count from 7.23 to 6.28 log CFU/g (from 55.35% to 45.06% of total bacteria). The mixture comprising GOS and maltodextrins thus exhibited bifidogenic properties, promoting the performance of bifidobacteria by boosting their growth and inhibiting the growth of undesirable bacteria.
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