To add or not to add probiotics to infant formulae? An updated systematic review.

We updated evidence on the effects of the administration of probiotic-supplemented infant formulae (IF) compared with unsupplemented IF. Five databases were searched up to September 2016 for randomised controlled trials. Twenty publications were identified, including five new RCTs. Supplementation of IF with Bifidobacterium lactis Bb12, either alone or with Streptococcus thermophilus, had no effect on growth, respiratory illness, antibiotic use, stool frequency or consistency. However, there was a significant reduction in the number of episodes of gastrointestinal infections (Bb12) and a lower frequency of colic or irritability (when both strains were used). Lactobacillus johnsonii La1 had no effect on growth, gastrointestinal infections, or respiratory illness episodes. There were no effects of supplementation of IF with Bifidobacterium longum BL999, alone or with Lactobacillus rhamnosus LPR. L. rhamnosus GG was associated with better growth; it had no effect on colic/crying, or irritability, and it was associated with greater indexes of loose stools and a higher defecation frequency. Lactobacillus reuteri ATCC 55730 had no effect on growth, colic, crying, irritability, respiratory illness, antibiotic use, stool frequency, or stool consistency; however, it reduced the number of episodes of diarrhoea. L. reuteri DSM 17938 had no effect on growth, night-time sleeping, or flatulence, but it reduced the number of spitting episodes. Lactobacillus salivarius CEC5713 had no effect on growth, colic, crying, or irritability; however, it resulted in a significant reduction in the rate of diarrhoea and the number of episodes of respiratory symptoms. In conclusion, the administration of probiotic-supplemented formulae to healthy infants does not raise safety concerns with regard to growth and adverse effects. Some beneficial clinical effects are possible; however, there is no existing robust evidence to recommend their routine use. The latter conclusion may reflect the small amount of data on a specific probiotic strain(s) and outcomes, rather than a genuine lack of an effect.

Gut microbiota analysis reveals a marked shift to bifidobacteria by a starter infant formula containing a synbiotic of bovine milk-derived oligosaccharides and Bifidobacterium animalis subsp. lactis†CNCM I-3446.

Non-digestible milk oligosaccharides were proposed as receptor decoys for pathogens and as nutrients for beneficial gut commensals like bifidobacteria. Bovine milk contains oligosaccharides, some of which are structurally identical or similar to those found in human milk. In a controlled, randomized double-blinded clinical trial we tested the effect of feeding a formula supplemented with a mixture of bovine milk-derived oligosaccharides (BMOS) generated from whey permeate, containing galacto-oligosaccharides and 3'- and 6'-sialyllactose, and the probiotic Bifidobacterium animalis subsp. lactis (B. lactis) strain CNCM I-3446. Breastfed infants served as reference group. Compared with a non-supplemented control formula, the test formula showed a similar tolerability and supported a similar growth in healthy newborns followed for 12 weeks. The control, but not the test group, differed from the breast-fed reference group by a higher faecal pH and a significantly higher diversity of the faecal microbiota. In the test group the probiotic B. lactis increased by 100-fold in the stool and was detected in all supplemented infants. BMOS stimulated a marked shift to a bifidobacterium-dominated faecal microbiota via increases in endogenous bifidobacteria (B. longum, B. breve, B. bifidum, B. pseudocatenulatum).

Meta-analysis: Lactobacillus GG for treating acute gastroenteritis in children--updated analysis of randomised controlled trials.

BACKGROUND: The efficacy of each probiotic should be evaluated separately. Previously, we have shown that Lactobacillus GG (LGG) is effective in treating acute gastroenteritis (AGE) in children. AIM: To update our 2007 meta-analysis on the effectiveness of LGG in treating AGE in children. METHODS: The Cochrane Library, MEDLINE and EMBASE databases were searched from August 2006 (end date of last search) to May 2013, with no language restrictions, for randomised controlled trials (RCTs) and meta-analyses. RESULTS: Fifteen RCTs (2963 participants) met the inclusion criteria in this updated meta-analysis. Combined data from 11 RCTs (n = 2444) showed that LGG significantly reduced the duration of diarrhoea compared with placebo or no treatment (mean difference, MD -1.05 days, 95% CI -1.7 to -0.4). LGG was more effective when used at a daily dose ≥10¹° CFU (eight RCTs, n = 1488, MD -1.11 days, 95% CI -1.91 to -0.31) than when used at a daily dose <10¹° CFU (three RCTs, n = 956, MD -0.9 day, 95% CI -2.5 to 0.69). LGG was effective in children treated in Europe (five RCTs, n = 744, MD -1.27 days, 95% CI -2.04 to -0.49); in the non-European setting, the difference between the LGG group and the control group was of a borderline statistical significance (six RCTs, n = 1700, MD -0.87, 95% CI -1.81 to 0.08). CONCLUSIONS: Lactobacillus GG reduces the duration of diarrhoea. A subset of patients that is more likely to benefit includes subjects treated with a high daily dose of LGG (≥10¹° CFU/day) who are either in-patients or out-patients from geographical Europe. Given the methodological limitations of many of the included trials, the evidence should be viewed with caution.

Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population.

Recently, rare genotypes encoding defective variants of sialic acid acetylesterase (SIAE), such as homozygous Met89Val substitution, were strongly associated [odds ratio (OR) = 8] with a panel of autoimmune diseases including type 1 diabetes mellitus (T1DM). Our purpose was to replicate this finding in T1DM and explore whether Met89Val predisposes to Graves' diseases (GD). We studied 561 GD patients, 379 T1DM patients and 1822 controls. The prevalence of Met89Val homozygosity was similar among patients (GD: 0.4%, n = 2; T1DM: 0.3%, n = 1) and controls (0.4%, n = 7) yielding OR of 0.93 [95% confidence interval (CI): 0.19-4.48, P = 0.9] and 0.69 (95% CI: 0.08-5.59, P = 0.71) for GD and T1DM, respectively. We conclude that further studies are needed before the proposed strong effect of defective SIAE variants on susceptibility to autoimmunity can be universally accepted.

Meta-analysis: Lactobacillus GG for treating acute diarrhoea in children.

AIM: To review evidence for the effectiveness of Lactobacillus GG (LGG) in treating acute infectious diarrhoea in children. METHODS: The following electronic databases were searched through August 2006 for studies relevant to acute infectious diarrhoea and LGG: MEDLINE, EMBASE, CINAHL and The Cochrane Library; additional references were obtained from reviewed articles. Only randomized-controlled trials (RCTs) were included. RESULTS: Eight RCTs (988 participants) met the inclusion criteria. Compared with controls, LGG had no effect on the total stool volume (two RCTs, n = 303). However, LGG was associated with a significant reduction in diarrhoea duration (seven RCTs, 876 infants, weighted mean difference, WMD -1.1 days (95% confidence interval, CI -1.9 to -0.3), particularly of rotavirus etiology (WMD -2.1 days, 95% CI -3.6 to -0.6), risk of diarrhoea >7 days (one RCT, n = 287, relative risk 0.25, 95% CI 0.09-0.75) and duration of hospitalization (three RCTs, n = 535, WMD -0.58, 95% CI -0.8 to -0.4; significance was lost in the random effect model). There was no reduction in the number of stools at any time interval. CONCLUSIONS: The use of LGG is associated with moderate clinical benefits in the treatment of acute diarrhoea in children. These findings should be interpreted with caution due to the important methodological limitations and heterogeneity of most of the studies.

Meta-analysis: Saccharomyces boulardii for treating acute diarrhoea in children.

BACKGROUND: Saccharomyces boulardii is a non-pathogenic probiotic yeast considered useful against enteropathogens. AIM: To assess the effectiveness of S. boulardii in treating acute infectious diarrhoea in children. METHODS: The following electronic databases were searched through August 2006 for studies relevant to acute infectious diarrhoea and S. boulardii: MEDLINE, EMBASE, CINAHL and The Cochrane Library; additional references were obtained from reviewed articles. Only randomized-controlled trials were included. RESULTS: Five randomized-controlled trials (619 participants) met the inclusion criteria. Combined data from four randomized-controlled trials showed that S. boulardii significantly reduced the duration of diarrhoea compared with control. The pooled weighted mean difference was -1.1 days (95% CI: -1.3 to -0.8) with a fixed model and remained significant in a random effect model. Saccharomyces boulardii significantly reduced the risk of diarrhoea on days 3, 6 and 7. Also the risk of diarrhoea lasting >7 days was significantly reduced in the S. boulardii group vs. control group (1 RCT, n = 88, RR 0.25, 95% CI: 0.08-0.83; NNT 5, 95% CI: 3-20). CONCLUSIONS: There exists a moderate clinical benefit of S. boulardii therapy in otherwise healthy infants and children with acute gastroenteritis, mainly a shorter duration of diarrhoea. However, these results should be interpreted with caution due to methodological limitations of the included studies.

Yeasts and algae isolated from cows with mastitis in the south-eastern part of Poland.

The aim of the study was to evaluate the occurrence of mycotic and protohecal mastitis in herds in south-eastern part of Poland. A total of 3091 milk samples from udder quarters with clinical and subclinical mastitis from 29 dairy herds was investigated in this survey. Milk samples were plated as soon as possible on blood agar (BA), Mac Conkey agar, aesculin-tallium acetate-crystal violet agar, and Sabouraud agar. A hundred and thirty one yeast (4.23%) and eleven Protoheca zopfii (0.35%) strains were isolated from cows with clinical and subclinical mastitis. All the isolated fungi were the yeast classified into 4 genera (Candida, Trichosporon, Saccharomyces and Rhodotorula). The most frequently isolated yeasts were Candida sp., C. kefyr, C. humicola, C. rugosa and C. inconspicua. Both fungi and algae were isolated first of all during a confinement-housing season.

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive autoimmune disease caused by autoimmune regulator gene mutations. The aim of this study was to examine the mutation profile of Polish APECED patients, determine the carrier rate of the most frequent mutation(s) and estimate disease prevalence. While studying 14 unrelated patients, we identified three novel mutations (c.1A>T, affecting the start codon; [IVS1 + 1G>C; IVS1 + 5delG], a complex mutation affecting splice site; c. 908G>C, p.R303P, a missense mutation in plant homeodomain (PHD) and three previously reported mutations (c.769C>T, p.R257X; c.967_979del13bp, C322fsX372; c.931delT, p.C311fsX376). Eleven patients had mutations on both chromosomes, whereas in three patients only a single alteration with proven or likely pathogenic effect was detected. The most frequent was the p.R257X mutation (71% of chromosomes); its carriage rate was assessed in the background population. Analysis of 2008 samples showed eight heterozygotes, indicating the frequency of 0.40% (1:250) and the disease prevalence - 1:129,000 (95% confidence interval: 1:555,000 to 1:30,000). Comparison with an epidemiological estimate (1:619,000, derived for women) suggested that in Poland, APECED is underdiagnosed. Among the patients, no genotype/phenotype correlations were found, but we noted that women had earlier onset of hypoparathyroidism (p < 0.02) and were younger at diagnosis (p < 0.05) than men.

Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.

The frequency of small supernumerary marker chromosomes has been estimated to approximately 0.45 per 1000 newborns. They are usually seen as single marker chromosomes in a mosaic state. Two cytogenetically identical markers have been observed only occasionally. We report on a boy, with congenital heart defect, neonatal hypotonia, hypogenitalism, delayed psychomotor development and mild dysmorphic facial features. The GTG karyotype performed on peripheral blood lymphocytes revealed a mosaic male karyotype with three cell lines. One cell line had a normal karyotype. In the other two either single or double chromosome 6 derived supernumerary markers were present, leading to partial trisomy or partial tetrasomy of chromosome 6, respectively.

Fibular aplasia with ectrodactyly--broadening the clinical spectrum.

Fibular aplasia-ectrodactyly is a rare disorder of the central axis, characterized by shortening of the affected limbs and formation of split hand and/or foot. Here we report on a severely affected case of fibular aplasia with ectrodactyly, in which the upper limb malformations are more pronounced than usually described in sporadic cases.

Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.

The thrombocytopenia-absent radius (TAR) syndrome (MIM 274000) is a congenital malformation syndrome characterised by bilateral absence of the radii with present thumbs, hypomegakaryocytic thrombocytopenia and a number of additional features including skeletal and cardiac anomalies. Mental retardation, reported in about 7% of patients, is usually secondary to intracranial hemorrhage. In 1994 there was a single report of a girl with TAR syndrome and hypoplasia of the cerebellar vermis and corpus callosum and in 2003 another case of TAR syndrome with cerebellar dysgenesis has been reported. In 2000 there was first report of horseshoe kidney in association with TAR syndrome followed by a clinical study of 34 cases with TAR syndrome in 2002 where horseshoe kidney was noted in two cases. Here we report of a girl with TAR syndrome, severe mental retardation, agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. There is no previous report of a child with TAR syndrome and all those associated anomalies in the same patient.

Proteus syndrome: a case with clonal chromosome aberration.

Proteus syndrome is a disorder characterized by overgrowth of multiple tissues, connective tissue nevi, epidermal nevi and hyperostoses with asymmetric involvement. The clinical expression of the disorder is extremely variable. Molecular pathogenesis of the syndrome is unknown but it is hypothesized that it resulted from a somatic alteration of a gene leading to mosaic effects that would be lethal if the mutation was carried in nonmosaic fashion, and this may explain the variability among patients. We report a new case who presented at birth with asymmetric hypertrophy of the bones and soft tissues of fingers and a tumor of the chest. Cytogenetic analysis of the excised tumor revealed clonal chromosome aberration: mos46, XY, add(9)(p13) [5]/46,XY[30]. During follow up tumors of the rectum and urinary bladder were diagnosed.

Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts.

Wiedemann-Rautenstrauch (neonatal progeroid) syndrome is an autosomal recessive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the syndrome are generalized lipoatrophy with specific fat accumulation in the lateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalus), and mental retardation. We report on a new case that demonstrates all typical features of the syndrome. The girl is now 16 years and 10 months old and has had follow-up from birth. We measured terminal restriction fragment (TRF) length to evaluate whether the patient's premature aging process is accompanied by shortening of telomere length in her cultured fibroblasts. Mean TRF of 13.5 kb found in our patient's fibroblasts is not shortened as compared to that of normal fibroblasts. Our results differ from those observed in Hutchinson-Gilford progeria.

Disorganisation: a case with popliteal pterygia and placental-skin appendages.

We report a girl with congenital anomalies which include amniotic rings and scars, cleft lip and palate, thumb abnormalities, hexadactyly of feet, severe flexion deformities of legs and unusual finger-like appendages which were attached to the placenta. We suggest this patient represents another example of human homologue for the mouse mutant disorganisation (Ds).

[Localization of chlorine barrier by transepithelial transient electric potentials in rana skin]. / Localización de la barrera al cloruro mediante potenciales eléctricos transepiteliales transitorios en la piel de rana.

The localization of the outermost barrier to chloride influx in the abdominal skin of Leptodactylus ocellatus was investigated by a technique developed by Kidder et al. The method analyses the transient changes in transepithelial electrical potential differences produced when an impermeable anion (SO4(2) or gluconate) is rapidly replaced by Cl in the external bathing solution. The experimental results indicate that the Cl barrier is at the same level as the external Na barrier, that is, at the outward facing membrane of the cells of the stratum granulosum. Further experiments demonstrate that Br behaves like Cl, whereas I seems to behave as an impermeable anion, and that Na is needed for activating the anion permeation mechanism at the external barrier of the epithelium.