Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort.

Background: Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8-10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking.

Home enteral nutrition does not decrease oral feeding in children during the first year of nutritional support.

Background: Enteral nutrition is necessary when nutritional status is poor and oral intake is insufficient or impossible. Although it has been suspected to reduce spontaneous oral feeding, no study has formally assessed the influence of enteral nutrition on pediatric oral intake. The present study aimed to evaluate variation in oral feeding intake after enteral nutrition initiation, and to identify factors influencing oral feeding.

Cow's milk-based infant formula supplements in breastfed infants and primary prevention of cow's milk allergy: A commentary of the Committee on Nutrition of the French Society of Pediatrics.

The role of nutritional interventions for the primary prevention of cow's milk allergy (CMA) remains debated as well as the role of early introduction of allergenic foods, which is largely encouraged from the beginning of complementary feeding. Considering the introduction of cow's milk protein (CMP), current recommendations suggest avoidance of any cow's milk formula (CMF) supplements in breastfed infants in the maternity ward. By contrast, based on poor evidence, some authors support systematic supplements of CMP in breastfed children at risk of allergy from the first week of life.

Additive Effect of Rare Variants on the Phenotype of Familial Hypercholesterolemia.

Background: Autosomal dominant hypercholesterolemia (ADH) is due to deleterious variants in , , or genes. Double heterozygote for these genes induces a more severe phenotype. More recently, a new causative variant of heterozygous ADH was identified in .

Microbe-mediated intestinal NOD2 stimulation improves linear growth of undernourished infant mice.

The intestinal microbiota is known to influence postnatal growth. We previously found that a strain of (strain Lp) buffers the adverse effects of chronic undernutrition on the growth of juvenile germ-free mice. Here, we report that Lp sustains the postnatal growth of malnourished conventional animals and supports both insulin-like growth factor-1 (IGF-1) and insulin production and activity.

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.

Abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3) are rare recessive disorders of lipoprotein metabolism due to mutations in and genes, respectively, which lead to defective chylomicron formation and secretion. This results in lipid and fat-soluble vitamin malabsorption, which induces severe neuro-ophthalmic complications. Currently, treatment combines a low-fat diet with high-dose vitamin A and E supplementation but still fails in normalizing serum vitamin E levels and providing complete ophthalmic protection.

A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.

Genetic diagnosis of familial hypercholesterolemia (FH) remains unexplained in 30 to 70% of patients after exclusion of monogenic disease. There is now a growing evidence that a polygenic burden significantly modulates LDL-cholesterol (LDL-c) concentrations. Several LDL-c polygenic risk scores (PRS) have been set up.

Impact of the HAS 2019 French guidelines on the frequency of hospital undernutrition in children.

In 2019, the French National Authority for Health (Haute Autorité de Santé, HAS) published guidelines on the diagnosis of undernutrition. The present article focuses on the impact of switching from the 2012 guidelines of the Nutrition Committee of the French Paediatric Society (CNSFP) to the HAS guidelines on the frequency of hospital undernutrition in children. We selected for the period 2010-2019 from the ePINUT database: (1) all children aged more than 2 years with (2) clinically confirmed nutritional status in (3) French sites.

Nutri-Score: Its Benefits and Limitations in Children's Feeding.

Reducing the burden of noncommunicable diseases (NCDs) is one of the top priorities of public health policies worldwide. One of the recognized means of achieving this objective is to improve the diet quality. The Nutri-Score (N-S) is a [five-color-A, B, C, D, E letters] front-of-pack labeling logo intended to help consumers quickly identify the healthier prepackaged foods within a food category.

The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration.

Familial hypercholesterolaemia (FH) is the most common inherited metabolic disorder characterized by high cholesterol and if left untreated leads to premature cardiovascular disease, such as heart attacks. Treatment that begins early in life, particularly in childhood, is highly efficacious in preventing cardiovascular disease and cost-effective, thus early detection of FH is crucial. However, in Europe, less than 10% of people living with FH are diagnosed and even less receive life-saving treatment.

Guidance for the diagnosis and treatment of hypolipidemia disorders.

The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long management of inherited hypocholesterolemia disorders. Our mission is "to improve the lives of individuals and families affected by abetalipoproteinemia and related disorders". This review explains the molecular mechanisms behind the monogenic hypobetalipoproteinemia disorders and details their specific pathophysiology, clinical presentation and management throughout the lifespan.

"Baby-led weaning" - Progress in infant feeding or risky trend?

Baby-led weaning (BLW), proposed as a new form of complementary feeding, has emerged as a real trend phenomenon in the media. Infants are seated at the family table from the age of 6 months, facing the foods they grab and bring to their mouth: they decide which foods they want to eat and what amount. The consumption of mashed foods and the use of a spoon are totally discouraged.

Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations.

Familial hypercholesterolaemia (FH) is under-recognized and under-treated in Europe leading to significantly higher risk for premature heart disease in those affected. As treatment beginning early in life is highly effective in preventing heart disease and cost-effective in these patients, screening for FH is crucial. It has therefore now been recognized by the European Commission Public Health Best Practice Portal as an effective strategy.

Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic Diagnosis.

Objective: To identify childhood and parental factors associated with initiation of statin therapy in children with heterozygous familial hypercholesterolemia (HeFH), including underlying genetic diagnosis or parental premature atherosclerotic cardiovascular disease (ASCVD).

Study Design: This multicenter cohort study included 245 HeFH child-parent pairs from the REFERCHOL national register (2014-2020). Demographic and clinical characteristics at the last visit were collected.

Increase of recurrent central line-associated bloodstream infections in children with home parenteral nutrition in a rehabilitation care facility compared to home.

Background And Aims: Central line-associated bloodstream infections (CLABSIs) are the main complication in children with home parenteral nutrition (HPN) and some patients develop recurrent CLABSIs (REC-CLABSIs), defined as two or more infections within six months. Our aims were to assess the incidence and to characterize the risk factors of REC-CLABSIs in children with HPN.

Methods: We characterized 79 HPN children from 2014 to 2019 and calculated the incidence of CLABSIs.

Management of Central Venous Catheters in Children and Adults on Home Parenteral Nutrition: A French Survey of Current Practice.

Although central venous catheter (CVC)-related thrombosis (CRT) is a severe complication of home parenteral nutrition (HPN), the amount and quality of data in the diagnosis and management of CRT remain low. We aimed to describe current practices regarding CVC management in French adult and pediatric HPN centers, with a focus on CVC obstruction and CRT. Current practices regarding CVC management in patients on HPN were collected by an online-based cross-sectional survey sent to expert physicians of French HPN centers.

Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of () Pathogenic Variants.

Background: pathogenic variants can cause congenital adrenal hypoplasia or primary adrenal insufficiency in early childhood usually associated with hypogonadotropic hypogonadism. is necessary for organogenesis of the adrenal cortex and to maintain normal spermatogenesis. In humans, restoration of fertility in patients carrying pathogenic variants is challenging.

Undernourished patients do not have increased risk of severe COVID-19 outcomes.

Background: Undernutrition has been previously identified as a deleterious factor in acute infections. In covid-19 infection, obesity is a risk-factor of severe evolution, but initial undernutrition has not been evaluated yet.

Methods: We retrospectively analyzed correlation between nutritional status at admission and severe outcomes (intensive care unit admission, invasive mechanical ventilation requirement and death) of patients hospitalized for confirmed covid-19 infection.

Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions).

Congenital diarrhea may result from 2 main different mechanisms: 1) osmotic diarrhea is caused by the non-digestion-absorption of nutrients leading to the non-absorbed nutrients going into the lumen, increasing the osmotic force and driving fluids; 2) secretory diarrhea induced by the inhibition of intestinal absorption of electrolytes, increasing electrolyte and water flux towards the intestinal lumen. The malabsorption of macronutrients (carbohydrates, proteins and lipids) induces energy deficiency with symptoms depending on the macronutrient: carbohydrates with watery acidic diarrhea; protein with rapid malnutrition, edema, and hypoalbuminemia; and lipids with malnutrition, steatorrhea and hypocholesterolemia. Ionic malabsorption (Cl and Na) is responsible for severe and rapid dehydration sometimes with prenatal abnormalities (polyhydramnios and bowel dilatation).

Therapeutic Approach of Very Early-Onset Inflammatory Bowel Disease in a Loeys-Dietz Syndrome Child.

Heterozygous TGFBR2 loss-of-function mutation is an extremely rare cause of very-early onset inflammatory bowel disease (VEOIBD) as, so far, only three cases have been reported in the literature. VEOIBD therapeutic management remains a real challenge for clinicians. Here, we described an interesting new case of Loeys-Dietz syndrome presenting severe, very early intestinal inflammation associated with dysmorphic features, aortic arch tortuosity joint hyper laxity and severe scoliosis.

The role of nutrition in non-alcoholic fatty liver disease treatment in obese children.

Non-alcoholic fatty liver disease (NAFLD) is a highly prevalent chronic liver disease that occurs mostly in the context of insulin resistance and obesity. It has rapidly evolved into the most common cause of liver disease among children. The incidence is high in obese children and a greater risk of disease progression is associated with severe obesity, highlighting the role of nutrition.