Eczema distribution in girls and boys during infancy: A cohort study on atopic dermatitis

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The skin microbiome in the first year of life and its association with atopic dermatitis

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Is amniotic fluid of women with uncomplicated term pregnancies free of bacteria?

Background: The “sterile womb” paradigm is debated. Recent evidence suggests that the offspring’s first microbial encounter is before birth in term uncomplicated pregnancies. The establishment of a healthy microbiota early in life might be crucial for reducing the burden of diseases later in life. Objective We aimed to investigate the presence of a microbiota in sterilely collected amniotic fluid in uncomplicated pregnancies at term in the Preventing Atopic Dermatitis and Allergies in children (PreventADALL) study cohort. Study Design Amniotic fluid was randomly sampled at cesarean deliveries in pregnant women in 1 out of 3 study sites included in the PreventADALL study. From 65 pregnancies at term, where amniotic fluid was successfully sampled, we selected 10 from elective (planned, without ongoing labor) cesarean deliveries with intact amniotic membranes and all 14 with prior rupture of membranes were included as positive controls. Amniotic fluid was analyzed by culture-independent and culture-dependent techniques. Results The median (min-max) concentration of prokaryotic DNA (16S rRNA gene copies/mL; digital droplet polymerase chain reaction) was low for the group with intact membranes [664 (544–748)]–corresponding to the negative controls [596 (461–679)], while the rupture of amniotic membranes group had >10-fold higher levels [7700 (1066–251,430)] (P = .0001, by Mann-Whitney U test). Furthermore, bacteria were detected in 50% of the rupture of amniotic membranes samples by anaerobic culturing, while none of the intact membranes samples showed bacterial growth. Sanger sequencing of the rupture of amniotic membrane samples identified bacterial strains that are commonly part of the vaginal flora and/or associated with intrauterine infections. Conclusion We conclude that fetal development in uncomplicated pregnancies occurs in the absence of an amniotic fluid microbiota and that the offspring microbial colonization starts after uterine contractions and rupture of amniotic membrane

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in <i>SERPING1</i>

<div><p>Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is characterized by relapsing, non-pruritic swelling in skin and submucosal tissue. Symptoms can appear in early infancy when diagnosis is more difficult. In the absence of a correct diagnosis, treatment of abdominal attacks often lead to unnecessary surgery, and laryngeal edema can cause asphyxiation. A cohort study of 52 patients from 25 unrelated families in Norway was studied. Diagnosis of C1-INH-HAE was based on international consensus criteria including low functional and/or antigenic C1-INH values and antigenic C4. As <i>SERPING1</i> mutations in Norwegian patients with C1-INH-HAE are largely undescribed and could help in diagnosis, we aimed to find and describe these mutations. Mutation analysis of the <i>SERPING1</i> gene was performed by Sanger sequencing of all protein coding exons and exon-intron boundaries. Samples without detected mutation were further analyzed by multiplex ligation-dependent probe amplification to detect deletions and duplications. Novel mutations suspected to lead to splice defects were analyzed on the mRNA level. Fifty-two patients from 25 families were included. Forty-four (84,6%) suffered from C1-INH-HAE type I and eight (15,4%) suffered from C1-INH-HAE type II. Pathogenic or likely pathogenic mutations were found in 22/25 families (88%). Thirteen unique mutations were detected, including six previously undescribed. There were three missense mutations including one mutation affecting the reactive center loop at codon 466, three nonsense mutations, three small deletions/duplications, three gross deletions, and one splice mutation.</p></div

SERPING1 variants identified by DNA sequencing or multiplex ligation-dependent probe amplification.

<p>^(a) The upstream breakpoint for the deletion is located less than 364kb from exon 1. Downstream breakpoint is probably located within intron 4.</p><p>^(b) The upstream breakpoint for the deletion is located less than 364kb from exon 1. Downstream breakpoint is unknown.</p><p>^● Criteria for classification:</p><p>Likely pathogenic:</p><p>- nonsense mutations or out of frame indels.</p><p>- missense mutations previously reported in two families.</p><p>Pathogenic:</p><p>- nonsense mutations or out of frame indels previously reported.</p><p>- missense mutations previously reported in more than two families.</p><p>SERPING1 variants identified by DNA sequencing or multiplex ligation-dependent probe amplification.</p

Maternal and paternal atopic dermatitis and risk of atopic dermatitis during early infancy in girls and boys

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Diagnosing atopic dermatitis in infancy using established diagnostic criteria: a cohort study

Background Diagnosing atopic dermatitis (AD) in infants is challenging. Objectives To determine the incidence and persistence of eczema and AD in infants using the UK Working Party (UKWP) and Hanifin and Rajka (H&R) criteria. Methods A cohort of 1834 infants was examined clinically at 3, 6 and 12 months of age. AD was diagnosed by UKWP (3, 6 and 12 months) and H&R (12 months) criteria. Logistic regression models were used to assess the relationship between AD and eczema. Results Eczema was observed in 628 (34·2%) infants (n = 240, n = 359 and n = 329 at 3, 6 and 12 months, respectively), with AD diagnosed in 212 (33·7%) infants with any eczema and in 64/78 (82%) infants with eczema at all three visits. The odds of AD were lower with first presentation of eczema at 6 [odds ratio (OR) 0·33, 95% confidence interval (CI) 0·22–0·48] or 12 months (OR 0·49, 95% CI 0·32–0·74) than at 3 months, and higher in infants with eczema at three (OR 23·1, 95% CI 12·3–43·6) or two (OR 6·5, 95% CI 4·3–9·9) visits vs. one visit only. At 12 months, 156/329 (47·4%) fulfilled the UKWP and/or H&R criteria; 27 (8%) fulfilled the UKWP criteria only and 65 (20%) only the H&R criteria. Of the 129 infants who fulfilled the H&R criteria, 44 (34·1%) did not meet the itch criterion. Conclusions Used in combination and at multiple timepoints, the UKWP and H&R criteria for AD may be useful in clinical research but may have limited value in most other clinical settings

Food and nutrient intake and adherence to dietary recommendations during pregnancy: a Nordic mother–child population-based cohort.

Background: A woman’s food intake during pregnancy has important implications not only for herself but also for the future health and well-being of her child. Suboptimal dietary quality has been consistently reported in many high-income countries, reflecting poor adherence to dietary guidelines. Objective: This study aimed to explore the intake of food and nutrients in a cohort of pregnant women in Norway and their adherence to Nordic Nutrition Recommendations (NNR) and Norwegian food-based guidelines (NFG). Design: We investigated the dietary intake in 1,674 pregnant women from the mother–child birth cohort, PreventADALL, recruited at approximately 18-week gestational age. Dietary intake was assessed by an electronic validated food frequency questionnaire (PrevFFQ) in the first half of pregnancy. Results: Total fat intake was within the recommended intake (RI) range in most women; however, the contribution of saturated fatty acids to the total energy intake was above RI in the majority (85.2%) of women. Carbohydrate intake was below RI in 43.9% of the women, and 69.5% exceeded the RI of salt. Intakes of fiber, vegetables, and fish were high in a large part of the population. Many women had a high probability of inadequate intakes of the following key micronutrients during pregnancy: folate (54.4%), iron (49.6%), calcium (36.2%), vitamin D (28.7%), iodine (24.4%), and selenium (41.3%). A total of 22.8% women reported an alcohol intake of >1 g/day, and 4.4% reported an alcohol intake of >10 g/day. Women with higher educational levels showed a tendency towards healthier eating habits, except for higher intakes of alcohol and coffee, compared to women with lower educational level. Discussion: Excessive saturated fat intake and limited intake of many important micronutrients during pregnancy were common, potentially increasing the risk for adverse pregnancy and birth outcomes. Conclusions: This study highlights the need for improved nutritional guidance to pregnant women across all educational levels