| 1. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
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Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 2. |
- Concepcion Gil-Rodriguez, Maria, et al.
(författare)
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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- 2015
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Ingår i: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462
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Tidskriftsartikel (refereegranskat)abstract
- Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
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| 3. |
- KC, Ashish, 1982-, et al.
(författare)
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Increased risk of bradycardia in vigorous infants receiving early as compared to delayed cord clamping at birth
- 2023
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Ingår i: Journal of Perinatology. - : Springer Nature. - 0743-8346 .- 1476-5543. ; 43, s. 709-715
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveTo compare HR pattern of vigorous newborns during the first 180 s with early (≤60 s, ECC) or delayed (>60 s, DCC) cord clamping.Study designObservational study including dry-electrode ECG monitoring of 610 vaginally-born singleton term and late-preterm (≥34 weeks) who were vigorous after birth.Results198 received ECC while 412 received DCC with median cord clamping at 37 s and 94 s. Median HR remained stable from 30 to 180 s with DCC (172 and 170 bpm respectively) but increased with ECC (169 and 184 bpm). The proportion with bradycardia was higher among ECC than DCC at 30 s and fell faster in the DCC through 60 s. After adjusting for factors affecting timing of cord clamping, ECC had significant risk of bradycardia compared to DCC (aRR 1.51; 95% CI; 1.01–2.26).ConclusionEarly heart instability and higher risk of bradycardia with ECC as compared to DCC supports the recommended clinical practice of DCC.
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| 4. |
- KC, Ashish, 1982, et al.
(författare)
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Increased risk of bradycardia in vigorous infants receiving early as compared to delayed cord clamping at birth.
- 2023
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Ingår i: Journal of perinatology : official journal of the California Perinatal Association. - : Springer Science and Business Media LLC. - 1476-5543 .- 0743-8346. ; 43:6, s. 709-715
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Tidskriftsartikel (refereegranskat)abstract
- To compare HR pattern of vigorous newborns during the first 180 s with early (≤60 s, ECC) or delayed (>60 s, DCC) cord clamping.Observational study including dry-electrode ECG monitoring of 610 vaginally-born singleton term and late-preterm (≥34 weeks) who were vigorous after birth.198 received ECC while 412 received DCC with median cord clamping at 37 s and 94 s. Median HR remained stable from 30 to 180 s with DCC (172 and 170 bpm respectively) but increased with ECC (169 and 184 bpm). The proportion with bradycardia was higher among ECC than DCC at 30 s and fell faster in the DCC through 60 s. After adjusting for factors affecting timing of cord clamping, ECC had significant risk of bradycardia compared to DCC (aRR 1.51; 95% CI; 1.01-2.26).Early heart instability and higher risk of bradycardia with ECC as compared to DCC supports the recommended clinical practice of DCC.
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| 5. |
- KC, Ashish, 1982-, et al.
(författare)
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Usability, acceptability and feasibility of a novel technology with visual guidance with video and audio recording during newborn resuscitation : a pilot study
- 2022
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Ingår i: BMJ Health & Care Informatics. - : BMJ Publishing Group Ltd. - 2632-1009. ; 29
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Inadequate adherence to resuscitation for non-crying infants will have poor outcome and thus rationalise a need for real-time guidance and quality improvement technology. This study assessed the usability, feasibility and acceptability of a novel technology of real-time visual guidance, with sound and video recording during resuscitation.Setting: A public hospital in Nepal.Design: A cross-sectional design.Intervention: The technology has an infant warmer with light, equipped with a tablet monitor, NeoBeat and upright bag and mask. The tablet records resuscitation activities, ventilation sound, heart rate and display time since birth. Healthcare providers (HCPs) were trained on the technology before piloting.Data collection and analysis: HCPs who had at least 8 weeks of experience using the technology completed a questionnaire on usability, feasibility and acceptability (ranged 1-5 scale). Overall usability score was calculated (ranged 1-100 scale).Results: Among the 30 HCPs, 25 consented to the study. The usability score was good with the mean score (SD) of 68.4% (10.4). In terms of feasibility, the participants perceived that they did not receive adequate support from the hospital administration for use of the technology, mean score (SD) of 2.44 (1.56). In terms of acceptability, the information provided in the monitor, that is, time elapsed from birth was easy to understand with mean score (SD) of 4.60 (0.76).Conclusion: The study demonstrates reasonable usability, feasibility and acceptability of a technological solution that records audio visual events during resuscitation and provides visual guidance to improve care.
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| 6. |
- KC, Ashish, 1982, et al.
(författare)
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Usability, acceptability and feasibility of a novel technology with visual guidance with video and audio recording during newborn resuscitation: a pilot study.
- 2022
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Ingår i: BMJ health & care informatics. - : BMJ. - 2632-1009. ; 29:1
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Tidskriftsartikel (refereegranskat)abstract
- Inadequate adherence to resuscitation for non-crying infants will have poor outcome and thus rationalise a need for real-time guidance and quality improvement technology. This study assessed the usability, feasibility and acceptability of a novel technology of real-time visual guidance, with sound and video recording during resuscitation.A public hospital in Nepal.A cross-sectional design.The technology has an infant warmer with light, equipped with a tablet monitor, NeoBeat and upright bag and mask. The tablet records resuscitation activities, ventilation sound, heart rate and display time since birth. Healthcare providers (HCPs) were trained on the technology before piloting.HCPs who had at least 8 weeks of experience using the technology completed a questionnaire on usability, feasibility and acceptability (ranged 1-5 scale). Overall usability score was calculated (ranged 1-100 scale).Among the 30 HCPs, 25 consented to the study. The usability score was good with the mean score (SD) of 68.4% (10.4). In terms of feasibility, the participants perceived that they did not receive adequate support from the hospital administration for use of the technology, mean score (SD) of 2.44 (1.56). In terms of acceptability, the information provided in the monitor, that is, time elapsed from birth was easy to understand with mean score (SD) of 4.60 (0.76).The study demonstrates reasonable usability, feasibility and acceptability of a technological solution that records audio visual events during resuscitation and provides visual guidance to improve care.
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| 7. |
- Kong, So Yeon Joyce, et al.
(författare)
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Mothers' acceptability of using novel technology with video and audio recording during newborn resuscitation: A cross-sectional survey.
- 2024
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Ingår i: PLOS digital health. - 2767-3170. ; 3:4
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Tidskriftsartikel (refereegranskat)abstract
- This study aims to assess the acceptability of a novel technology, MAchine Learning Application (MALA), among the mothers of newborns who required resuscitation.This study took place at Bharatpur Hospital, which is the second-largest public referral hospital with 13 000 deliveries per year in Nepal.This is a cross-sectional survey.Data collection took place from January 21 to February 13, 2022. Self-administered questionnaires on acceptability (ranged 1-5 scale) were collected from participating mothers. The acceptability of the MALA system, which included video and audio recordings of the newborn resuscitation, was examined among mothers according to their age, parity, education level and technology use status using a stratified analysis.The median age of 21 mothers who completed the survey was 25 years (range 18-37). Among them, 11 mothers (52.4%) completed their bachelor's or master's level of education, 13 (61.9%) delivered first child, 14 (66.7%) owned a computer and 16 (76.2%) carried a smartphone. Overall acceptability was high that all participating mothers positively perceived the novel technology with video and audio recordings of the infant's care during resuscitation. There was no statistical difference in mothers' acceptability of MALA system, when stratified by mothers' age, parity, or technology usage (p>0.05). When the acceptability of the technology was stratified by mothers' education level (up to higher secondary level vs. bachelor's level or higher), mothers with Bachelor's degree or higher more strongly felt that they were comfortable with the infant's care being video recorded (p = 0.026) and someone using a tablet when observing the infant's care (p = 0.046). Compared with those without a computer (n = 7), mothers who had a computer at home (n = 14) more strongly agreed that they were comfortable with someone observing the resuscitation activity of their newborns (71.4% vs. 14.3%) (p = 0.024).The novel technology using video and audio recordings for newborn resuscitation was accepted by mothers in this study. Its application has the potential to improve resuscitation quality in low-and-middle income settings, given proper informed consent and data protection measures are in place.
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| 8. |
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| 9. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 10. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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