Genetics, epigenetics and transgenerational transmission of obesity in children.

Sedentary lifestyle and consumption of high-calorie foods have caused a relentless increase of overweight and obesity prevalence at all ages. Its presently epidemic proportion is disquieting due to the tight relationship of obesity with metabolic syndrome and several other comorbidities which do call for urgent workarounds. The usual ineffectiveness of present therapies and failure of prevention campaigns triggered overtime a number of research studies which have unveiled some relevant aspects of obesity genetic and epigenetic inheritable profiles. These findings are revealing extremely precious mainly to serve as a likely extra arrow to allow the clinician's bow to achieve still hitherto unmet preventive goals. Evidence now exists that maternal obesity/overnutrition during pregnancy and lactation convincingly appears associated with several disorders in the offspring independently of the transmission of a purely genetic predisposition. Even the pre-conception direct exposure of either father or mother gametes to environmental factors can reprogram the epigenetic architecture of cells. Such phenomena lie behind the transfer of the obesity susceptibility to future generations through a mechanism of epigenetic inheritance. Moreover, a growing number of studies suggests that several environmental factors such as maternal malnutrition, hypoxia, and exposure to excess hormones and endocrine disruptors during pregnancy and the early postnatal period may play critical roles in programming childhood adipose tissue and obesity. A deeper understanding of how inherited genetics and epigenetics may generate an obesogenic environment at pediatric age might strengthen our knowledge about pathogenetic mechanisms and improve the clinical management of patients. Therefore, in this narrative review, we attempt to provide a general overview of the contribution of heritable genetic and epigenetic patterns to the obesity susceptibility in children, placing a particular emphasis on the mother-child dyad.

Use and Misuse of Emergency Room for Children: Features of Walk-In Consultations and Parental Motivations in a Hospital in Southern Italy.

Objective: Inappropriate use of the emergency department (ED) represents a major worldwide issue both in pediatric and adult age. Herein, we aim to describe features of pediatric visits to the ED of Salerno University Hospital and to evaluate parental reasons behind the decision to walk in. Materials and Methods: We performed a retrospective observational study evaluating ED encounters for children from January 2014 to December 2019. The appropriateness of visits was measured with a national tool assessing every ED encounter, namely, "the Mattoni method," which consists of the combination of the triage code assigned, the diagnostic resources adopted, and the consultation outcomes. Moreover, 64 questionnaires were collected from a sample of parents in the waiting rooms in January 2020. Results: A total number of 42,507 visits were recorded during the study period (19,126 females; mean age ± SD: 4.3 ± 3.8 years), the majority of whom were inappropriate (75.8% over the considered period; 73.6% in 2014; 74.6% in 2015; 76.3% in 2016; 76.7% in 2017; 77.9% in 2018; 75.5% in 2019). Most of the inappropriate consultations arrived at the ED by their own vehicle (94.4%), following an independent decision of the parents (97.2%), especially in the evening and at night on Saturdays/Sundays/holidays (69.7%). A multivariate analysis revealed the following: patients of younger age (OR: 1.11, 95% C.I. 1.06-1.16; p < 0.0019), night visits (OR 1.39; 95% C.I.: 1.32-1.47; p < 0.001), patients living in the municipality of Salerno (OR 1.28; 95% C.I.: 1.22-1.34; p < 0.001), weekend day visits (OR 1.48; 95% C.I.: 1.41-1.56; p < 0.001), and independent parental decision without previous contact with primary care pediatrician (OR 3.01; 95% C.I.: 2.64-3.44; p < 0.001) were all significant independent predictors of inappropriate consultation. The most frequent trigger of ED encounters was fever (51.4%). Hospital admission made up 17.6% of all consultations. The questionnaire showed that most parents were aware of the lack of urgency (20.3%) or minor urgency (53.1%) of the visit. The reasons for walking in were the impossibility to receive a home consultation (70%), the difficulty of contacting their family pediatrician during weekends and holidays (54.4%), as well as the search for a quick, effective, diagnosis and therapy (48.4%). Conclusions: The study suggests a highly inappropriate use of ED for children in our region. This issue deserves considerable attention by health care system leaders in order to optimally integrate hospitals and primary care.

NAFLD at the Interface of the Mother-Infant Dyad.

This review aims to focus the links existing between several aspects of the mother-child dyad in the intricate playground of obesity and Metabolic Syndrome (MetS), including its hepatic component, the Non- Alcoholic Fatty Liver Disease (NAFLD). In recent years human and animal model studies have shown that dietary interventions in mothers and offspring can be successful in reducing the risk of NAFLD development. Evidences also concern the new concept of a real intergenerational transmission of predisposition to metabolic disorders. Certain genes, such as SIRT1 and PNPLA3, and some epigenetic modifications, including micro RNAs function, seem to be responsible for fetal reprogramming in the setting of maternal obesity. These modifiers appear to be potential therapeutic targets to reduce the risk of future metabolic dysfunctions. Controlling antepartum hyperglycemia, preventing gestational diabetes, and avoiding excessive weight gain during pregnancy can help reduce the relentless epidemic of childhood obesity and NAFLD. Also, the composition of the intestinal microbiota seems to be related to the development of metabolic disorders in the offspring. Several studies show that breastfed infants have a microbial signature different from formula-fed infants. Much interestingly, prolonged breastfeeding is beneficial not only for the newborn and his health in adult life, but also for the mothers' health. Maternal benefits include reducing the risk of developing chronic diseases, such as diabetes mellitus, myocardial infarction and NAFLD as well. In conclusion, all above mechanisms appear to intervene synergistically and may act as modifiable risk factors for infant and mother NAFLD.

Subcutaneous fat necrosis in a newborn after brief therapeutic hypothermia: ultrasonographic examination.

A 7-day-old infant developed erythematous indurated plaques on the back, left shoulder, and arm a few days after therapeutic hypothermia. Ultrasonographic study along with Doppler blood flow analysis of lesional skin areas revealed flogistic fat involvement and calcifications. On the basis of clinical appearance, patient history, and ultrasonographic study, a diagnosis of subcutaneous fat necrosis of the newborn was established.

Optic perineuritis: a further cause of visual loss and disc edema in children.

BACKGROUND: Optic perineuritis is a rare form of orbital inflammatory pseudotumor in which the specific target tissue is the optic nerve sheath. Patients are mainly represented by adult women. Differential diagnosis with demyelinating optic neuritis is essential in terms of prognosis and treatment. CASE PRESENTATION: An 8-year-old Caucasian girl presented with bilateral loss of vision, disc edema, eye movement impairment, and diplopia. Brain MRI findings were suggestive of optic perineuritis. The patient received steroid pulse therapy followed by prolonged course of oral steroid therapy. The visual acuity recovered dramatically within 2 days. Two months later, a new MRI investigation was normal. No clinical relapse was observed at the follow-up. DISCUSSION: We first report on a child affected by optic perineuritis. Our observation suggests that optic perineurits should be considered in the differential diagnosis of children presenting with visual loss and disc edema. An early and correct diagnosis may lead to an appropriate therapeutic approach with very good outcome.