Publications by authors named "Ljungblad U"

Pooled data from published reports on infants with clinically diagnosed vitamin B12 (B12) deficiency were analyzed with the purpose of describing the presentation, diagnostic approaches, and risk factors for the condition to inform prevention strategies. An electronic (PubMed database) and manual literature search following the PRISMA approach was conducted (preregistration with the Open Science Framework, accessed on 15 February 2023). Data were described and analyzed using correlation analyses, Chi-square tests, ANOVAs, and regression analyses, and 102 publications (292 cases) were analyzed.

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Background: There are inconsistent findings regarding neurological and motor development in infants born moderate to late preterm and infants born small for gestational age at term. The primary aim of this study was to compare neurological and motor function between preterm, term SGA and term AGA infants aged three to seven months corrected age using several common assessment tools. The secondary aim was to investigate their motor function at two years.

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Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine (tHcy) and methylmalonic acid (MMA) are included. This is a retrospective study of newborns reported from NBS during 2012−2021 with confirmed B12 deficiency.

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Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 deficiency is unknown. We evaluated the predictive value using NBS algorithms in detecting infants that later were clinically diagnosed with symptomatic B12 deficiency. Furthermore, we investigated whether being born in a hospital using nitrous oxide (NO) as pain relief in labor may have had an impact on total homocysteine at NBS.

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Aim: Risk factors for vitamin B12 deficiency in infants are not fully understood. The aim of the study was to assess predictors of total homocysteine and methylmalonic acid analysed in newborn screening dried blood spots.

Methods: In a Norwegian case control study, we analysed total homocysteine and methylmalonic acid in newborn screening dried blood spots of 86 infants clinically diagnosed with vitamin B12 deficiency during 2012-2018.

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Aim: To investigate associations between iron status and gross motor scores in infants aged 3-7 months.

Methods: In a prospective study, 252 infants aged 3-7 months were examined using the age-standardised Alberta Infant Motor Scale (AIMS) prior to analysing iron status in 250 infants. Combined AIMS and ferritin results were assessed in 226 infants, whereas AIMS and reticulocyte haemoglobin (ret-Hb) results were obtained for 61 infants.

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Background: In Norway, 5-10% of neonates and infants have biomarkers suggesting vitamin B12 deficiency from newborn screening tests and unselected clinical screening, respectively.

Aims: The aims were to identify risk factors and describe presenting symptoms and biochemical profiles in infants diagnosed with vitamin B12 deficiency.

Methods: In this case-control study, we searched hospital medical records for infants younger than one year born in 2011-2018, diagnosed with vitamin B12 deficiency.

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Objective: To provide a valid, continuous reference interval, including a 10th percentile cut-off, for Hammersmith Infant Neurological Examination (HINE) scores based on 3- to 7-month-old term infants with weight appropriate for gestational age.

Study Design: In a prospective study, we examined 168 Norwegian infants at one timepoint with HINE at 3-7 months of age. In 134 of these infants Ages and Stages Questionnaire was completed by their parents at 2 years of age to ensure typical motor development.

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Background: Previous studies have demonstrated a high prevalence of biochemical vitamin B12 deficiency in infants in Norway. Increased total homocysteine (tHcy) is the most important marker of B12 deficiency in infants. There is a need to evaluate its clinical relevance.

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Article Synopsis
  • The study investigated the clinical characteristics and genetic variations associated with the DHX30-related neurodevelopmental disorder, especially focusing on new missense variants in the gene.
  • Researchers collected clinical and genetic data from affected individuals via social media, collaboration networks, and analyzed the effects of these variants on cellular functions and development using various experimental models, including zebrafish.
  • Findings revealed that individuals with missense variants presented with severe developmental issues, while those with variants leading to milder haploinsufficiency showed less severe symptoms, suggesting the presence of two distinct clinical subtypes based on the type and location of the genetic variants.
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Background: To evaluate the relationship between stillbirth in singleton pregnancy (> or = 28 weeks gestation) and maternal weight (weight gain) from 24 completed weeks.

Methods: All fetal deaths (n = 210) at five delivery units during seven years in southern Sweden were analysed. To each case a control mother was selected, the only matching criteria being parity and place of delivery.

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Objective: To identify markers for late fetal death, a multicenter study was performed, based on routinely obtained data from maternal health care units.

Material And Methods: Prospectively recorded data were obtained from maternal health care units belonging to five delivery units. In all, 233 consecutive cases of singleton pregnancy involving late fetal death (> or = 28 weeks) were identified between 1983 and 1989.

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