Children

Research

14 pages, 3825 KiB

Open AccessArticle

Genetic Predisposition to Primary Lactose Intolerance Does Not Influence Dairy Intake and Health-Related Quality of Life in Romanian Children: A Hospital-Based Cross-Sectional Study

by Corina Pienar, Liviu Pop, Marilena Lăzărescu, Radmila Costăchescu, Mirela Mogoi, Ruxandra Mare and Edward Șeclăman

Children 2023, 10(6), 1075; https://0-doi-org.brum.beds.ac.uk/10.3390/children10061075 - 18 Jun 2023

Viewed by 1593

Abstract

Background: Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in life. The evidence supporting a [...] Read more.

Background: Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in life. The evidence supporting a link between PLI, dairy intake, and quality of life (QoL) is limited in children. Aim: This study investigates the link between LCT polymorphisms and suggestive symptoms and the influence of the genetic predisposition to PLI on dairy intake and QoL in Romanian children. Materials and methods: We recruited consecutive children evaluated in our ambulatory clinic. We asked all participants to complete a visual-analog symptoms scale, a dairy intake, and a QoL questionnaire. We used strip genotyping to identify genetic predisposition to PLI. Results: 51.7% of children had a CC genotype, and 34.5% also had a GG genotype. Most children reported no or mild symptoms. Dairy intake and QoL were similar across study groups. Conclusions: Our study shows that genetic predisposition does not necessarily assume the presence of specific symptoms. Genetic predisposition to PLI did not lead to dairy avoidance, nor did it negatively influence our children’s QoL. Full article

(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

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14 pages, 4918 KiB

Open AccessArticle

Body Adiposity Partially Mediates the Association between FTO rs9939609 and Lower Adiponectin Levels in Chilean Children

by Carolina Ochoa-Rosales, Lorena Mardones, Marcelo Villagrán, Claudio Aguayo, Miquel Martorell, Carlos Celis-Morales and Natalia Ulloa

Children 2023, 10(3), 426; https://0-doi-org.brum.beds.ac.uk/10.3390/children10030426 - 22 Feb 2023

Viewed by 2915

Abstract

Children carrying the minor allele ‘A’ at the fat mass and obesity-associated protein (FTO) gene have higher obesity prevalence. We examined the link between FTO rs9939609 polymorphism and plasma adiponectin and the mediating role of body adiposity, in a cross-sectional study comprising [...] Read more.

Children carrying the minor allele ‘A’ at the fat mass and obesity-associated protein (FTO) gene have higher obesity prevalence. We examined the link between FTO rs9939609 polymorphism and plasma adiponectin and the mediating role of body adiposity, in a cross-sectional study comprising 323 children aged 6–11 years. Adiponectin and FTO genotypes were assessed using a commercial kit and a real-time polymerase chain reaction with high-resolution melting analysis, respectively. Body adiposity included body mass index z-score, body fat percentage and waist-to-hip ratio. To investigate adiponectin (outcome) associations with FTO and adiposity, linear regressions were implemented in additive models and across genotype categories, adjusting for sex, age and Tanner’s stage. Using mediation analysis, we determined the proportion of the association adiponectin-FTO mediated by body adiposity. Lower adiponectin concentrations were associated with one additional risk allele (β_additive = −0.075 log-μg/mL [−0.124; −0.025]), a homozygous risk genotype (β_AA/TT = −0.150 [−0.253; −0.048]) and a higher body mass index z-score (β = −0.130 [−0.176; −0.085]). Similar results were obtained for body fat percentage and waist-to-hip ratio. Body adiposity may mediate up to 29.8% of the FTO-adiponectin association. In conclusion, FTO rs9939609-related differences in body adiposity may partially explain lower adiponectin concentrations. Further studies need to disentangle the biological pathways independent from body adiposity. Full article

(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

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11 pages, 281 KiB

Open AccessArticle

Factors Associated with Breastfeeding Initiation and Duration in Greece: Data from the Hellenic National Nutrition and Health Survey

by Efthimia Spyrakou, Emmanuella Magriplis, Vassiliki Benetou and Antonis Zampelas

Children 2022, 9(11), 1773; https://0-doi-org.brum.beds.ac.uk/10.3390/children9111773 - 18 Nov 2022

Cited by 2 | Viewed by 1603

Abstract

Despite its well-documented benefits, breastfeeding rates and duration worldwide do not meet the recommended goals set by the World Health Organization. Data on infant feeding, socio-demographic, lifestyle and perinatal factors were used from 490 mothers (and 958 children), participants at the Hellenic National [...] Read more.

Despite its well-documented benefits, breastfeeding rates and duration worldwide do not meet the recommended goals set by the World Health Organization. Data on infant feeding, socio-demographic, lifestyle and perinatal factors were used from 490 mothers (and 958 children), participants at the Hellenic National Nutrition and Health Survey between 2013–2015. Clustered multiple logistic regression and multilevel mixed-model regression analyses were performed to identify factors associated with breastfeeding initiation and duration, respectively. Maternal lower education [Odds Ratio (OR): 2.29, 95% Confidence intervals (95% CI): 1.30–4.04; p = 0.004], smoking during pregnancy (OR: 3.08, 95% CI: 1.64–5.77; p < 0.001), caesarean section (OR = 3.26, 95% CI: 1.83–5.83; p < 0.001), prematurity (OR = 2.74, 95% CI: 1.40–5.37; p = 0.003) and higher birth order (OR = 1.30, 95% CI: 1.04–1.62; p = 0.020) were associated with increased odds of not initiating breastfeeding. Living in rural areas [beta coefficient b = −27.93, p = 0.043], smoking during pregnancy (b = −64.47, p < 0.001), caesarean section (b = −28.76, p = 0.046) and prematurity (b = −46.67, p = 0.048) were significantly associated with shorter breastfeeding duration. Children born chronologically closer to the survey were more likely to breastfeed and for longer periods. Educational promotion and enhancement of breastfeeding awareness that account for maternal exposures are required. Prevention of prematurity and avoidance of unnecessary caesarean section is crucial, while additional breastfeeding support is needed when preterm birth occurs, or caesarean section cannot be avoided. Full article

(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

Review

Jump to: Research, Other

15 pages, 548 KiB

Open AccessReview

Diet and Lipid-Lowering Nutraceuticals in Pediatric Patients with Familial Hypercholesterolemia

by Maria Elena Capra, Giacomo Biasucci, Giuseppe Banderali, Andrea Vania and Cristina Pederiva

Children 2024, 11(2), 250; https://0-doi-org.brum.beds.ac.uk/10.3390/children11020250 - 15 Feb 2024

Viewed by 1080

Abstract

Familial hypercholesterolemia is a genetically determined disease characterized by elevated plasma total and LDL cholesterol levels from the very first years of life, leading to early atherosclerosis. Nutritional intervention is the first-line treatment, complemented with nutraceuticals and drug therapy when necessary. Nutraceuticals with [...] Read more.

Familial hypercholesterolemia is a genetically determined disease characterized by elevated plasma total and LDL cholesterol levels from the very first years of life, leading to early atherosclerosis. Nutritional intervention is the first-line treatment, complemented with nutraceuticals and drug therapy when necessary. Nutraceuticals with a lipid-lowering effect have been extensively studied in the past few decades, and have been recently included in international guidelines as a complement to nutritional and pharmacological treatment in subjects with dyslipidemia. In this review, we explore current nutritional interventions for dyslipidemia in childhood, with a specific focus on the main nutraceuticals studied for treating severe dyslipidemia in pediatric patients. Additionally, we briefly describe their primary mechanisms of action and highlight the advantages and risks associated with the use of lipid-lowering nutraceuticals in childhood. Full article

(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

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Other

Jump to: Research, Review

9 pages, 1177 KiB

Open AccessCase Report

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1

by Teofana Otilia Bizerea-Moga, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros and Ramona Stroescu

Children 2023, 10(10), 1701; https://0-doi-org.brum.beds.ac.uk/10.3390/children10101701 - 17 Oct 2023

Cited by 1 | Viewed by 1286

Abstract

Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The [...] Read more.

Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in SLC34A1 and CYP24A1 genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes. Full article

(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

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Graphical abstract

9 pages, 640 KiB

Open AccessCase Report

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review

by Lucia Maria Sur, Monica Alina Mager, Alexandru-Cristian Bolunduţ, Adrian-Pavel Trifa and Dana Teodora Anton-Păduraru

Children 2023, 10(4), 727; https://0-doi-org.brum.beds.ac.uk/10.3390/children10040727 - 14 Apr 2023

Viewed by 1351

Abstract

6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological [...] Read more.

6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late. Improving the diagnosis and monitoring procedures in Romania with correct metabolic management will prevent severe neurological impairment from PTPSD or other BH4Ds. Full article

(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

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8 pages, 781 KiB

Open AccessCase Report

PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review

by Ana-Maria Slanina, Adorata-Elena Coman, Dana-Teodora Anton-Păduraru, Elena Popa, Carmen-Liliana Barbacariu, Otilia Novac, Antoneta Dacia Petroaie, Agnes-Iacinta Bacușcă, Mihaela Manole and Adriana Cosmescu

Children 2023, 10(3), 530; https://0-doi-org.brum.beds.ac.uk/10.3390/children10030530 - 09 Mar 2023

Cited by 1 | Viewed by 1541

Abstract

The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. Genetic testing [...] Read more.

The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. Genetic testing revealed a mutation of the PEX6 (Peroxisomal Biogenesis Factor 6) gene, and the metabolic profile was consistent with the diagnosis. Particularly, the child also presented altered coagulation factors and developed a spontaneous brain hemorrhage. The clinical picture includes several neurological, ophthalmological, digestive, cutaneous, and endocrine disorders as a result of the very long chain fatty acid accumulation as well as secondary oxidative anomalies. The study of metabolic disorders occurring because of genetic mutations is a subject of core importance in the pathology of children today. The PEX mutations, difficult to identify antepartum, are linked to an array of cell anomalies with severe consequences on the patient’s status, afflicting multiple organs and systems. This is the reason for which our case history may be relevant, including a vast number of symptoms, as well as modified biological parameters. Full article

(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

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10 pages, 2320 KiB

Open AccessSystematic Review

Efficacy of Liraglutide in Obesity in Children and Adolescents: Systematic Review and Meta-Analysis of Randomized Controlled Trials

by Alejandra Cornejo-Estrada, Carlos Nieto-Rodríguez, Darwin A. León-Figueroa, Emilly Moreno-Ramos, Cielo Cabanillas-Ramirez and Joshuan J. Barboza

Children 2023, 10(2), 208; https://0-doi-org.brum.beds.ac.uk/10.3390/children10020208 - 25 Jan 2023

Cited by 3 | Viewed by 3604

Abstract

In the past few decades, childhood obesity has become a significant global health issue, impacting around 107.7 million children and adolescents globally. There is currently minimal usage of pharmacological therapies for childhood obesity in the pediatric population. This research assessed the efficacy of [...] Read more.

In the past few decades, childhood obesity has become a significant global health issue, impacting around 107.7 million children and adolescents globally. There is currently minimal usage of pharmacological therapies for childhood obesity in the pediatric population. This research assessed the efficacy of liraglutide in treating childhood and adolescent obesity. Until 20 October 2022, a systematic literature review was done utilizing PubMed, Scopus, Web of Science, and Embase databases. The search phrases “liraglutide”, “pediatric obesity”, “children”, and “adolescents” were utilized. Using the search method, a total of 185 articles were found. Three studies demonstrating liraglutide’s effectiveness in treating child and adolescent obesity were included. The selected research was done in the United States. As an intervention, liraglutide was administered to 296 participants at a maximal dosage of 3.0 mg. All examined trials were in phase 3. This comprehensive analysis revealed no clinically significant differences between liraglutide and body weight (kg; MD −2.62; 95%CI −6.35 to 1.12; p = 0.17) and body mass index (kg/m²; MD −0.80; 95%CI −2.33 to 0.73, p = 0.31). There was no evidence that liraglutide increased hypoglycemia episodes (RR 1.08; 95%CI 0.37 to 3.15; p = 0.79), or side consequences. However, it was shown that the medicine might help reduce BMI and weight combined with a healthy diet and regular exercise. A lifestyle change may have favorable consequences that will be assessed in the future for adjunctive therapy. PROSPERO database (CRD42022347472) Full article

(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

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