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1.
Proc Natl Acad Sci U S A ; 121(33): e2409167121, 2024 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-39116133

RESUMEN

Linker histones play an essential role in chromatin packaging by facilitating compaction of the 11-nm fiber of nucleosomal "beads on a string." The result is a heterogeneous condensed state with local properties that range from dynamic, irregular, and liquid-like to stable and regular structures (the 30-nm fiber), which in turn impact chromatin-dependent activities at a fundamental level. The properties of the condensed state depend on the type of linker histone, particularly on the highly disordered C-terminal tail, which is the most variable region of the protein, both between species, and within the various subtypes and cell-type specific variants of a given organism. We have developed an in vitro model system comprising linker histone tail and linker DNA, which although very minimal, displays surprisingly complex behavior, and is sufficient to model the known states of linker histone-condensed chromatin: disordered "fuzzy" complexes ("open" chromatin), dense liquid-like assemblies (dynamic condensates), and higher-order structures (organized 30-nm fibers). A crucial advantage of such a simple model is that it allows the study of the various condensed states by NMR, circular dichroism, and scattering methods. Moreover, it allows capture of the thermodynamics underpinning the transitions between states through calorimetry. We have leveraged this to rationalize the distinct condensing properties of linker histone subtypes and variants across species that are encoded by the amino acid content of their C-terminal tails. Three properties emerge as key to defining the condensed state: charge density, lysine/arginine ratio, and proline-free regions, and we evaluate each separately using a strategic mutagenesis approach.


Asunto(s)
ADN , Histonas , Nucleosomas , Histonas/química , Histonas/metabolismo , Histonas/genética , ADN/química , ADN/metabolismo , Nucleosomas/metabolismo , Nucleosomas/química , Cromatina/química , Cromatina/metabolismo , Cromatina/genética , Animales , Humanos
2.
Proc Natl Acad Sci U S A ; 121(36): e2403326121, 2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39213180

RESUMEN

Evolutionary variation in the wing pigmentation of butterflies and moths offers striking examples of adaptation by crypsis and mimicry. The cortex locus has been independently mapped as the locus controlling color polymorphisms in 15 lepidopteran species, suggesting that it acts as a genomic hotspot for the diversification of wing patterns, but functional validation through protein-coding knockouts has proven difficult to obtain. Our study unveils the role of a long noncoding RNA (lncRNA) which we name ivory, transcribed from the cortex locus, in modulating color patterning in butterflies. Strikingly, ivory expression prefigures most melanic patterns during pupal development, suggesting an early developmental role in specifying scale identity. To test this, we generated CRISPR mosaic knock-outs in five nymphalid butterfly species and show that ivory mutagenesis yields transformations of dark pigmented scales into white or light-colored scales. Genotyping of Vanessa cardui germline mutants associates these phenotypes to small on-target deletions at the conserved first exon of ivory. In contrast, cortex germline mutant butterflies with confirmed null alleles lack any wing phenotype and exclude a color patterning role for this adjacent gene. Overall, these results show that a lncRNA gene acts as a master switch of color pattern specification and played key roles in the adaptive diversification of wing patterns in butterflies.


Asunto(s)
Mariposas Diurnas , Pigmentación , ARN Largo no Codificante , Alas de Animales , Animales , Mariposas Diurnas/genética , Pigmentación/genética , Alas de Animales/anatomía & histología , Alas de Animales/crecimiento & desarrollo , ARN Largo no Codificante/genética , Fenotipo , Adaptación Fisiológica/genética
3.
Artículo en Inglés | MEDLINE | ID: mdl-38950353

RESUMEN

PURPOSE: Postpartum depression (PPD) affects one in eight women in the United States. Women with HIV may be at higher risk for PPD. This systematic review examined factors related to PPD in those with HIV. METHOD: Using three databases, articles published between 2017 and 2022 were screened for eligibility, with 19 full texts reviewed and critically appraised. Ten studies from eight countries were ultimately included in the analysis. RESULTS: Using Engel's biopsychosocial model, common themes emerged within the theoretical framework: (a) biological (e.g., HIV diagnosis in pregnancy, impact on HIV adherence); (b) psychological (e.g., pregnancy intention, intimate partner violence, fear of HIV transmission, infant illness, behavior); and (c) social (e.g., socioeconomic status, lack of social support, disclosure, stigma). CONCLUSION: Living with HIV carries additional stressors for new parents that may impact mental health in the postpartum period. Nurses are in a unique position to screen for PPD early using established screening tools while paying particular attention to associated factors impacting those with HIV. [Journal of Psychosocial Nursing and Mental Health Services, xx(xx), xx-xx.].

5.
J Nutr ; 154(8): 2583-2589, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38936551

RESUMEN

BACKGROUND: In low/middle-income countries, most nutritional assessments use the latest weights, without reference to growth trajectory. OBJECTIVES: This study explores whether velocity, in addition to the latest weight, improves the prediction of wasting, stunting, or mortality in the first 2 years of life. METHODS: We analyzed a combined data set with weight and height data collected monthly in the first year of 3447 children from Pakistan, Malawi, and South Africa, with height and survival recorded till 24 m. The main exposures were weight-for-age z-score (WAZ) at the end of each 2-m period and weight velocity-for-age z-score (WVZ2) across that period. The outcomes were wasting, stunting, or all-cause mortality in the next 1-2 mo. As a sensitivity analysis, we also used WVZ over 6 mo (WVZ6), with matching WAZ. Cox proportional hazard models with repeated growth measures were used to study the association between exposures and mortality. Mixed Poisson models were used for stunting and wasting. RESULTS: Children who were already stunted or wasted were most likely to remain so. Higher WVZ2 was associated with a lower risk of subsequent stunting (risk ratio [RR]: 0.95; 95% confidence interval [CI]: 0.93, 0.96), but added minimal prediction (difference in AUC = 0.004) compared with a model including only WAZ. Similarly, lower WVZ2 was associated with wasting (RR: 0.74; 95% CI 0.72, 0.76) but the prediction was only marginally greater than for WAZ (difference in AUC = 0.015). Compared with WAZ, WVZ6 was less predictive for both wasting and stunting. Low WVZ6 (but not WVZ2) was associated with increased mortality (hazard ratios: 0.75, 95% CI: 0.67, 0.85), but added only marginal prediction to a model including WAZ alone (difference in C = 0.015). CONCLUSIONS: The key anthropometric determinant of impending wasting, stunting, and mortality appears to be how far below the normal range the child's weight is, rather than how they reached that position.


Asunto(s)
Peso Corporal , Trastornos del Crecimiento , Síndrome Debilitante , Humanos , Malaui/epidemiología , Lactante , Pakistán/epidemiología , Sudáfrica/epidemiología , Trastornos del Crecimiento/epidemiología , Trastornos del Crecimiento/mortalidad , Masculino , Femenino , Síndrome Debilitante/epidemiología , Síndrome Debilitante/mortalidad , Estudios Longitudinales , Preescolar , Estatura , Recién Nacido , Modelos de Riesgos Proporcionales
6.
Nat Ecol Evol ; 8(4): 777-790, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38383850

RESUMEN

Chromosomes are a central unit of genome organization. One-tenth of all described species on Earth are butterflies and moths, the Lepidoptera, which generally possess 31 chromosomes. However, some species display dramatic variation in chromosome number. Here we analyse 210 chromosomally complete lepidopteran genomes and show that the chromosomes of extant lepidopterans are derived from 32 ancestral linkage groups, which we term Merian elements. Merian elements have remained largely intact through 250 million years of evolution and diversification. Against this stable background, eight lineages have undergone extensive reorganization either through numerous fissions or a combination of fusion and fission events. Outside these lineages, fusions are rare and fissions are rarer still. Fusions often involve small, repeat-rich Merian elements and the sex-linked element. Our results reveal the constraints on genome architecture in Lepidoptera and provide a deeper understanding of chromosomal rearrangements in eukaryotic genome evolution.


Asunto(s)
Mariposas Diurnas , Mariposas Nocturnas , Animales , Mariposas Diurnas/genética , Cromosomas , Genómica/métodos , Genoma , Mariposas Nocturnas/genética
7.
Matern Child Nutr ; 20(3): e13633, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38378946

RESUMEN

We aimed to describe how breastfeeding relates to adherence to complementary feeding (CF) recommendations, diet diversification and feeding skills development and whether sociodemographic factors explain any differences observed. The Scottish Maternal Infant and Nutrition Survey for infants aged 8-12 months collected breastfeeding history, CF practices, diet and sociodemographic data using a self-completion questionnaire. Non-healthful CF practices were starting CF < 6 months, any consumption of sugar-sweetened beverages (SSBs), sweet or salty snacks (treats) or unmodified cow's milk and regular consumption of commercial baby foods. Diet diversification and feeding skills were assessed by amount of self-feeding and number of food groups, meals and snacks eaten daily. Of the 2730 mothers, 20% were solely infant formula fed (IFF) and 48% continued breastfeeding ≥6 months. Compared to IFF babies, mothers who gave any breast milk ≥6 months were more likely to start CF ≥ 6 months compared to those IFF (66% vs. 37%) and less likely to give treats (15% vs. 45%), SSBs (11% vs. 20%) and commercial baby foods (31% vs. 53%). These associations remained highly significant (p < 0.001) even after sociodemographic factor adjustment. Despite starting CF later, infants breastfed ≥6 months ate the same number of food groups and meals as those IFF, were just as likely to self-feed purees and more likely to self-feed finger foods daily (87% vs. 81% p < 0.001). Mothers who breastfeed beyond 6 months adhere more to CF recommendations and start CF later compared to IFF, but their babies eat a similarly diverse diet and have similar feeding skills.


Asunto(s)
Lactancia Materna , Fenómenos Fisiológicos Nutricionales del Lactante , Humanos , Lactancia Materna/estadística & datos numéricos , Escocia , Femenino , Lactante , Adulto , Fenómenos Fisiológicos Nutricionales del Lactante/fisiología , Masculino , Fórmulas Infantiles/estadística & datos numéricos , Dieta/estadística & datos numéricos , Adulto Joven , Conducta Alimentaria , Alimentos Infantiles/estadística & datos numéricos , Factores Socioeconómicos , Encuestas Nutricionales , Madres/estadística & datos numéricos , Madres/psicología
8.
J Biol Chem ; 300(3): 105690, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38280428

RESUMEN

The hydrolytic activity of the ATP synthase in bovine mitochondria is inhibited by a protein called IF1, but bovine IF1 has no effect on the synthetic activity of the bovine enzyme in mitochondrial vesicles in the presence of a proton motive force. In contrast, it has been suggested based on indirect observations that human IFI inhibits both the hydrolytic and synthetic activities of the human ATP synthase and that the activity of human IF1 is regulated by the phosphorylation of Ser-14 of mature IF1. Here, we have made both human and bovine IF1 which are 81 and 84 amino acids long, respectively, and identical in 71.4% of their amino acids and have investigated their inhibitory effects on the hydrolytic and synthetic activities of ATP synthase in bovine submitochondrial particles. Over a wide range of conditions, including physiological conditions, both human and bovine IF1 are potent inhibitors of ATP hydrolysis, with no effect on ATP synthesis. Also, substitution of Ser-14 with phosphomimetic aspartic and glutamic acids had no effect on inhibitory properties, and Ser-14 is not conserved throughout mammals. Therefore, it is unlikely that the inhibitory activity of mammalian IF1 is regulated by phosphorylation of this residue.


Asunto(s)
Adenosina Trifosfato , Mitocondrias , Proteínas Mitocondriales , ATPasas de Translocación de Protón Mitocondriales , Animales , Bovinos , Humanos , Adenosina Trifosfato/biosíntesis , Adenosina Trifosfato/metabolismo , Aminoácidos/metabolismo , Hidrólisis , Mitocondrias/enzimología , ATPasas de Translocación de Protón Mitocondriales/genética , ATPasas de Translocación de Protón Mitocondriales/metabolismo , Proteínas Mitocondriales/genética , Proteínas Mitocondriales/metabolismo , Serina/metabolismo , Fosforilación
9.
Arch Dis Child ; 109(2): 78-82, 2024 01 22.
Artículo en Inglés | MEDLINE | ID: mdl-37463736

RESUMEN

Growth charts have played an integral part in the monitoring and assessment of children's health for the past 50 years, but their use is now under threat as paperless electronic systems become more widely used. While the obvious solution is to adopt electronic charting systems, this can prove challenging in practice. This article describes the key issues to consider in planning this transition and the charting options available, ranging from bespoke local systems to commercial packages and a new initiative by the Royal College of Paediatrics and Child Health.


Asunto(s)
Salud Infantil , Gráficos de Crecimiento , Niño , Humanos , Reino Unido
10.
Matern Child Nutr ; 20(2): e13610, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38093405

RESUMEN

Continued breastfeeding is important for infants' health, but it is unclear whether mixed feeding increases the risk of breastfeeding cessation. We aimed to explore associations of mixed feeding and lactation problems with early cessation of breastfeeding. We analysed data from mothers who completed the Scottish National Maternal and Infant Feeding Survey and had previously breastfed their infants. At age 8-12 weeks, mothers (N = 1974) reported their feeding history and intentions, lactation problems and reasons for giving formula milk. The main outcome measure was cessation of breastfeeding before 6-8 weeks and time to cessation. By 6 weeks, 65% had mixed fed at some point, 32% had ceased breastfeeding, 22% were currently mixed feeding and 46% were exclusively breastfeeding. Lactation problems before 2 weeks were common (65%), and strongly associated with stopping breastfeeding (relative risk [RR]: 3.23, 95% confidence interval [CI]: 2.0-5.3) and with mixed feeding (RR: 3.14, 95% CI: 2.5-4.0). However, even after adjustment for breastfeeding problems mothers who planned to mixed feed (RR: 3.39, 95% CI: 2.4-4.9) and those who introduced formula for practicalities (RR: 3.21, 95% CI: 2.3-4.4) were more likely to stop breastfeeding. These variables also predicted later lactation insufficiency (planned mixed feeding RR: 1.39, 95% CI: 1.0-2.0; formula for practicalities RR: 1.76, 95% CI: 1.3-2.3). Mothers who received specialist lactation support were less likely to cease breastfeeding (RR: 0.63, 95% CI: 0.5-0.9) but nonspecialist input was unrelated to risk of cessation (RR: 1.06, 95% CI: 0.2-4.9). In conclusion, choosing to mix feed an infant is strongly associated with stopping breastfeeding, even in the absence of lactation problems.


Asunto(s)
Lactancia Materna , Madres , Lactante , Femenino , Humanos , Lactancia
11.
Public Health Res (Southampt) ; 11(11): 1-101, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37953640

RESUMEN

Background: Having a good start in life during pregnancy and infancy has been shown to be important for living both a healthy life and a longer life. Despite the introduction of many policies for the early-years age group, including voucher schemes, with the aim of improving nutrition, there is limited evidence of their impact on health. Objectives: To assess the effectiveness of the Healthy Start voucher scheme on infant, child and maternal outcomes, and to capture the lived experiences of the Healthy Start voucher scheme for low-income women. Design: This was a natural experiment study using existing data sets, linked to routinely collected health data sets, with a nested qualitative study of low-income women and an assessment of the health economics. Setting: Representative sample of Scottish children and UK children. Participants: Growing Up in Scotland cohort 2 (n = 2240), respondents to the 2015 Infant Feeding Study (n = 8067) and a sample of 40 participants in the qualitative study. Interventions: The Health Start voucher, a means-tested scheme that provides vouchers worth £3.10 per week to spend on liquid milk, formula milk, fruit and vegetables. Main outcome measures: Infant and child outcomes - breastfeeding initiation and duration; maternal outcomes - vitamin use pre and during pregnancy. Results: The exposed group were women receiving the Healthy Start voucher (R), with two control groups: eligible and not claiming the Healthy Start voucher (E) and nearly eligible. There was no difference in vitamin use during pregnancy for either comparison (receiving the Healthy Start voucher, 82%; eligible and not claiming the Healthy Start voucher, 86%; p = 0.10 vs. receiving the Healthy Start voucher, 87%; nearly eligible, 88%; p = 0.43) in the Growing Up in Scotland cohort. Proportions were similar for the Infant Feeding Study cohort (receiving the Healthy Start voucher, 89%; eligible and not claiming the Healthy Start voucher, 86%; p = 0.01 vs. receiving the Healthy Start voucher, 89%; nearly eligible, 87%; p = 0.01); although results were statistically significantly different, these were small effect sizes. There was no difference for either comparison in breastfeeding initiation or breastfeeding duration in months in Growing Up in Scotland, but there was a negative effect of the Healthy Start voucher in the Infant Feeding Survey. This contrast between data sets indicates that results are inconclusive for breastfeeding. The qualitative study found that despite the low monetary value the women valued the Healthy Start voucher scheme. However, the broader lives of low-income women are crucial to understand the constraints to offer a healthy diet. Limitations: Owing to the policy being in place, it was difficult to identify appropriate control groups using existing data sources, especially in the Infant Feeding Study. Conclusions: As the Healthy Start voucher scheme attempts to influence health behaviour, this evaluation can inform other policies aiming to change behaviour and use voucher incentives. The null effect of Healthy Start vouchers on the primary outcomes may be due to the value of the vouchers being insufficient to change the broader lives of low-income women to offer a healthy diet. Future work: The methods developed to undertake an economic evaluation alongside a natural experiment using existing data can be used to explore the cost-effectiveness of the Healthy Start voucher scheme. Funding: This project was funded by the National Institute for Health and Care Research (NIHR) Public Health Research programme and will be published in full in Public Health Research; Vol. 11, No. 11. See the NIHR Journals Library website for further project information.


United Kingdom governments have introduced many policies to support infants and their families. Most of these policies have not been evaluated in terms of health outcomes. Therefore, there is limited evidence for policy-makers about whether or not the right policies are in place to make a difference to the health of young children and their families. We investigated the impact of the Healthy Start voucher scheme (worth £3.10 per week to spend on milk, fruit and vegetables) on the health of low-income mothers, and their infants and young children, in particular vitamin use of mothers and breastfeeding of infants. Using survey data, there were high rates of vitamin use during pregnancy, but fewer women taking vitamins before pregnancy. There was no effect of Healthy Start vouchers on taking vitamins before or during pregnancy. There was inconclusive evidence of the effect of Healthy Start vouchers on breastfeeding, indicating that use of the vouchers does not discourage breastfeeding in women with low incomes. From interviews with mothers, we found that they valued the Healthy Start vouchers and understood the aims of the policy. Healthy Start vouchers were not mentioned in decision-making around breastfeeding. Women's choice to breast or formula feed was based on a range of other factors, such as support to breastfeed. They wanted to provide a healthy diet for their families, but owing to living on low incomes did not always manage it. Policy-makers still need more evidence about the effects of voucher schemes to improve the health of low-income mothers, and their infants and young children. The decision-makers require evidence to determine where to allocate limited resources. There is a need to improve support for low-income families to provide their families with a healthy diet.


Asunto(s)
Lactancia Materna , Vitaminas , Lactante , Embarazo , Humanos , Femenino , Niño , Masculino , Frutas , Verduras , Almacenamiento y Recuperación de la Información
12.
Nutr Diet ; 2023 Oct 16.
Artículo en Inglés | MEDLINE | ID: mdl-37845187

RESUMEN

AIM: Optimising preconception health increases the likelihood of conception, positively influences short- and long-term pregnancy outcomes and reduces intergenerational chronic disease risk. Our aim was to synthesise study characteristics and maternal outcomes of digital or blended (combining face to face and digital modalities) interventions in the preconception period. METHODS: We searched six databases (PubMed, Cochrane, Embase, Web of Science, CINHAL and PsycINFO) from 1990 to November 2022 according to the PRISMA guidelines for randomised control trials, quasi-experimental trials, observation studies with historical control group. Studies were included if they targeted women of childbearing age, older than 18 years, who were not currently pregnant and were between pregnancies or/and actively trying to conceive. Interventions had to be delivered digitally or via digital health in combination with face-to-face delivery and aimed to improve modifiable behaviours, including dietary intake, physical activity, weight and supplementation. Studies that included women diagnosed with type 1 or 2 diabetes were excluded. Risk of bias was assessed using the Academy of Nutrition and Dietetics quality criteria checklist. Study characteristics, intervention characteristics and outcome data were extracted. RESULTS: Ten studies (total participants n=4,461) were included, consisting of nine randomised control trials and one pre-post cohort study. Seven studies received a low risk of bias and two received a neutral risk of bias. Four were digitally delivered and six were delivered using blended modalities. A wide range of digital delivery modalities were employed, with the most common being email and text messaging. Other digital delivery methods included web-based educational materials, social media, phone applications, online forums and online conversational agents. Studies with longer engagement that utilised blended delivery showed greater weight loss. CONCLUSION: More effective interventions appear to combine both traditional and digital delivery methods. More research is needed to adequately test effective delivery modalities across a diverse range of digital delivery methods, as high heterogeneity was observed across the small number of included studies.

13.
BMC Genomics ; 24(1): 443, 2023 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-37550607

RESUMEN

BACKGROUND: Morphological and traditional genetic studies of the young Pliocene genus Hyles have led to the understanding that despite its importance for taxonomy, phenotypic similarity of wing patterns does not correlate with phylogenetic relationship. To gain insights into various aspects of speciation in the Spurge Hawkmoth (Hyles euphorbiae), we assembled a chromosome-level genome and investigated some of its characteristics. RESULTS: The genome of a male H. euphorbiae was sequenced using PacBio and Hi-C data, yielding a 504 Mb assembly (scaffold N50 of 18.2 Mb) with 99.9% of data represented by the 29 largest scaffolds forming the haploid chromosome set. Consistent with this, FISH analysis of the karyotype revealed n = 29 chromosomes and a WZ/ZZ (female/male) sex chromosome system. Estimates of chromosome length based on the karyotype image provided an additional quality metric of assembled chromosome size. Rescaffolding the published male H. vespertilio genome resulted in a high-quality assembly (651 Mb, scaffold N50 of 22 Mb) with 98% of sequence data in the 29 chromosomes. The larger genome size of H. vespertilio (average 1C DNA value of 562 Mb) was accompanied by a proportional increase in repeats from 45% in H. euphorbiae (measured as 472 Mb) to almost 55% in H. vespertilio. Several wing pattern genes were found on the same chromosomes in the two species, with varying amounts and positions of repetitive elements and inversions possibly corrupting their function. CONCLUSIONS: Our two-fold comparative genomics approach revealed high gene synteny of the Hyles genomes to other Sphingidae and high correspondence to intact Merian elements, the ancestral linkage groups of Lepidoptera, with the exception of three simple fusion events. We propose a standardized approach for genome taxonomy using nucleotide homology via scaffold chaining as the primary tool combined with Oxford plots based on Merian elements to infer and visualize directionality of chromosomal rearrangements. The identification of wing pattern genes promises future understanding of the evolution of forewing patterns in the genus Hyles, although further sequencing data from more individuals are needed. The genomic data obtained provide additional reliable references for further comparative studies in hawkmoths (Sphingidae).


Asunto(s)
Cromosomas , Mariposas Nocturnas , Animales , Femenino , Masculino , Sintenía , Haploidia , Filogenia , Mariposas Nocturnas/genética , Cariotipo
14.
Sci Rep ; 13(1): 8947, 2023 06 02.
Artículo en Inglés | MEDLINE | ID: mdl-37268651

RESUMEN

To analyze growth patterns of children with CP between countries; to examine differences in growth; and to assess the fit of growth charts. Cross-sectional study in children with CP from 2 to 19 years old, 399 from Argentina and 400 from Germany. Growth measures were converted into z-scores and compared to WHO reference and US CP growth charts. Generalized Linear Model was used to analyze the growth expressed as mean z-scores. 799 children. Mean age 9 years (± 4). Compared to the WHO reference, the decrease in Height z-scores (HAZ) with age in Argentina (- 0.144/year) was double that in Germany (- 0.073/year). For children in GMFCS IV-V, BMI z-scores (BMIZ) decreased with age (- 0.102/year). Using the US CP charts, both countries showed decreasing HAZ with age, in Argentina (- 0.066/year) and in Germany (- 0.032/year). BMIZ increased more among children with feeding tubes (0.062/year), similar in both countries. Argentinian children with oral feeding decrease their Weight z-score (WAZ) by - 0.553 compared to their peers. With WHO charts BMIZ presented an excellent fit for GMFCS I-III. HAZ presents a poor fit to growth references. BMIZ and WAZ presented a good fit to US CP Charts. Growth differences due to ethnicity also act in children with CP, and are related to motor impairment, age and feeding modality, possibly reflecting differences in environment or health care.


Asunto(s)
Parálisis Cerebral , Humanos , Niño , Adolescente , Preescolar , Adulto Joven , Adulto , Parálisis Cerebral/epidemiología , Argentina/epidemiología , Estudios Transversales , Desarrollo Infantil , Alemania/epidemiología
16.
Arch Dis Child ; 108(5): 373-378, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36927619

RESUMEN

OBJECTIVE: A recent review reported that the WHO 2006 growth standards reflect a smaller head circumference at 24 months than seen in 18 countries. Whether this happens in early infancy and to what extent populations differ is not clear. This scooping review aimed to estimate the rates of children in different populations identified as macrocephalic or microcephalic by WHO standards. METHODS: We reviewed population-representative head circumference-for-age references. For each reference, we calculated the percentages of head circumferences that would be classified as microcephalic (<3rd WHO centile) or macrocephalic (>97th WHO centile) at selected ages. RESULTS: Twelve references from 11 countries/regions (Belgium, China, Ethiopia, Germany, Hong Kong, India, Japan, Norway, Saudi Arabia, UK and USA) were included. Median head circumference was larger than that for the Multicentre Growth Reference Study populations in both sexes in all these populations except for Japanese and Chinese children aged 1 month and Indians. Overall, at 12/24 months, 8%-9% children would be classified as macrocephalic and 2% would be classified as microcephalic, compared with the expected 3%. However at 1 month, there were geographic differences in the rate of macrocephaly (6%-10% in Europe vs 1%-2% in Japan and China) and microcephaly (1%-3% vs 6%-14%, respectively). CONCLUSIONS: Except for Indians and some Asian neonates, adopting the WHO head circumference standards would overdiagnose macrocephaly and underdiagnose microcephaly. Local population-specific cut-offs or references are more appropriate for many populations. There is a need to educate healthcare professionals about the limitations of the WHO head circumference standards.


Asunto(s)
Megalencefalia , Microcefalia , Recién Nacido , Masculino , Embarazo , Femenino , Humanos , Niño , Lactante , Microcefalia/diagnóstico , Microcefalia/epidemiología , Cefalometría , Parto , Organización Mundial de la Salud , Cabeza
17.
Appetite ; 181: 106380, 2023 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-36403866

RESUMEN

We aimed to 1/develop an observational tool to rate non-verbal cues infants give when being fed 2/test whether these differ between healthy children and those with weight faltering (WF) 3/describe how well these predict whether offered food is eaten. SUBJECTS: and methods: The study used videos of infants eating a standardised meal studied in a case control study nested within the Gateshead Millennium Study (GMS). Infants with weight faltering (WF) were each matched to 2 healthy controls. Half the control videos (N = 28) were used to develop the scale. Food offers were identified and the child's head, eyes, hands, and mouth position/activity rated as signalling a readiness to be fed (engaged), or not (disengaged) as well as whether food was accepted; 5 of these videos were used to assess inter-rater and test-re- test reliability. The scale was then applied to the videos of 28 WF infants (mean age 15.3 months) and 29 remaining controls (mean age 15.8 months) to identify and code all feeding events. RESULTS: test-re-test rates varied from 0.89 for events to 0.74 for head; inter-rater reliability varied from 0.78 for hands to 0.67 for mouth. From 2219 observed interactions, 48% showed at least one engaged element, and 73% at least one disengaged; 67% of interactions resulted in food eaten, with no difference between WF and control. Food was eaten after 73% interactions with any engagement, but also in 62% with disengagement. CONCLUSIONS: Infants were commonly disengaged during meals, but a majority accepted food despite this. Those with weight faltering did not differ compared to healthy controls.


Asunto(s)
Alimentos , Aumento de Peso , Lactante , Humanos , Niño , Estudios de Casos y Controles , Reproducibilidad de los Resultados
18.
Eur Child Adolesc Psychiatry ; 32(7): 1179-1188, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34988713

RESUMEN

While it is known that intrauterine growth restriction is associated with later mental disorders, it is still unclear whether similar associations exists for postnatal weight faltering, also known as 'failure to thrive' in infancy. This study examined the potential connection between infancy weight faltering and mental disorders diagnosed in childhood focusing specifically on neurodevelopmental disorders. The Copenhagen Child Cohort (CCC2000) was used to explore weight gain in infancy assessed by community health nurses. Data from the Danish national registries were used to quantify ICD-10 mental disorders diagnosed between birth and 12 years of age, as well as potential child and family confounders. Of 4.476 children with sufficient weight data, 339 (7.3%) children were diagnosed with a mental disorder in childhood. Both any (weight gain < -1SD) and severe infancy weight faltering (weight gain < -2SD) were associated with psychomotor delays, while severe infancy weight faltering was also associated with intellectual impairments. Notably, no significant associations were found between weight faltering and autism spectrum disorders or attention deficit hyperactivity disorders. Weight faltering in infancy may be an early marker of neurodevelopmental delays. This possibility should be considered when assessing infants with slow weight gain, to early identification and treatment of co-occurring neurodevelopmental disorders.


Asunto(s)
Trastorno del Espectro Autista , Trastornos del Neurodesarrollo , Niño , Lactante , Humanos , Estudios de Cohortes , Aumento de Peso , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/epidemiología , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/epidemiología
19.
Wellcome Open Res ; 8: 162, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38770266

RESUMEN

We present a genome assembly from an individual male Lysandra coridon (the Chalkhill Blue; Arthropoda; Insecta; Lepidoptera; Lycaenidae). The genome sequence is 541 megabases in span. Most of the assembly is scaffolded into 90 chromosomal pseudomolecules, including the assembled Z sex chromosome. The mitochondrial genome has also been assembled and is 15.4 kilobases in length. Gene annotation of this assembly on Ensembl identified 13,334 protein coding genes.

20.
Nat Rev Genet ; 23(11): 697-710, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35821097

RESUMEN

A major goal of evolutionary genetics is to understand the genetic processes that give rise to phenotypic diversity in multicellular organisms. Alternative splicing generates multiple transcripts from a single gene, enriching the diversity of proteins and phenotypic traits. It is well established that alternative splicing contributes to key innovations over long evolutionary timescales, such as brain development in bilaterians. However, recent developments in long-read sequencing and the generation of high-quality genome assemblies for diverse organisms has facilitated comparisons of splicing profiles between closely related species, providing insights into how alternative splicing evolves over shorter timescales. Although most splicing variants are probably non-functional, alternative splicing is nonetheless emerging as a dynamic, evolutionarily labile process that can facilitate adaptation and contribute to species divergence.


Asunto(s)
Empalme Alternativo , Empalme del ARN , Evolución Biológica , Fenotipo , Proteínas/genética
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