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Background: Masticatory function seems to play a role in the aetiology of obesity. However, literature on the association between oral myofunctional status and overweight and obesity in children and adolescents is scarce and contrasting. Objective: To compare masticatory performance, orofacial myofunctional status and tongue strength and endurance between children and adolescents with overweight and obesity and those with normal weight. Methods: Thirty children and adolescents with overweight and obesity and 30 subjects with normal weight matched for age and sex were recruited. All subjects were evaluated with the Test of Masticating and Swallowing Solids in Children (TOMASS‐C) for masticatory performance and with the Italian Orofacial Myofunctional Evaluation with Scores (I‐OMES) for the orofacial myofunctional status. Anterior and posterior maximum tongue pressures and tongue endurance were measured. Parents‐reported (PRO) duration of meals was recorded. Data were compared between the groups through the paired samples t‐test or the Wilcoxon signed‐rank test. Results: Children and adolescents with overweight showed significantly lower number of bites (p =.033), lower I‐OMES scores (p <.05), and shorter meal duration (p =.005) compared to their peers with normal weight. No significant differences were found between the two groups for the number of swallows, the number of masticatory cycles and the total time of the TOMASS‐C, and none of the tongue pressure measurements. Conclusions: Eating in children and adolescents with overweight and obesity is characterised by a larger bolus sizes and shorter PRO meal duration. Additionally, overweight and obesity seem to be associated with poorer orofacial skills and structures in the paediatric population. [ABSTRACT FROM AUTHOR]

Aim Methods Results Conclusion Current non‐invasive near‐infrared spectroscopy (NIRS) tissue oximetry suffers from suboptimal reproducibility over probe repositioning, hindering clinical threshold establishment. Time Domain‐NIRS (TD‐NIRS) offers higher precision but lacks sufficient paediatric data, preventing effective clinical application. We aimed to establish reference ranges for cerebral and mid‐upper arm (MUA) tissue haemodynamics in paediatric subjects using TD‐NIRS and explore correlations with auxological variables.TD‐NIRS measurements were conducted acquiring data from cerebral and MUA regions with the NIRSBOX tissue oximeter. Morphological and clinically relevant information were collected to explore potential correlations with TD‐NIRS derived parameters.TD‐NIRS assessment was applied in 350 children (8.4 ± 5.0 years). Precision of TD‐NIRS was demonstrated with standard deviations of 0.9% (StO2) and 4.2 μM (tHb) for frontotemporal cerebral cortex, and 0.8% (StO2) and 3.7 μM (tHb) for MUA. No user dependency was observed. The trends of values for cerebral and peripheral regions vary differently according to age and auxological parameters.This study reports resting‐state optical and haemodynamic values for a healthy paediatric population, providing a foundation for future investigations into clinically relevant deviations in these parameters. Furthermore, correlations with anthropometric and demographic values provide valuable insights for a deeper understanding of tissue haemodynamic evolution in childhood. [ABSTRACT FROM AUTHOR]

Summary: Insulin receptor gene (INSR) mutations are a relatively rare and diverse cause of insulin resistance (IR), typically associated with a lean phenotype. However, we present a unique case of severe obesity and Type A severe IR syndrome in a patient with a heterozygous mutation of the INSR gene. Next Generation Sequencing (NGS) analysis was conducted to identify the genetic variant. A 16‐year‐old girl with severe obesity (BMI‐SDS +2.79) exhibited markedly elevated basal insulin levels (>800 mcU/L). Despite obesity being a known cause of hyperinsulinism, further investigation was pursued due to the severity of hyperinsulinaemia. A heterozygous nucleotide variant at the donor splicing site of intron 13 (c.2682 + 1G > A) of the INSR gene was identified. This mutation was also present in the proband's normal‐weight mother and her two younger brothers with obesity. Metformin treatment provided limited benefits, but subsequent liraglutide therapy resulted in weight loss and decreased IR 3 months after initiation. Our findings suggest that obesity can exacerbate hyperinsulinaemia in individuals with an INSR gene mutation. Although INSR signalling defects play a minor role in the aetiology of IR, they should still be considered in the diagnostic pathway, particularly in severe phenotypes. Clinicians should not overlook the possibility of genetic causes in patients with obesity and IR, as they may require personalized management approaches. [ABSTRACT FROM AUTHOR]

To date, fetal liver implication is not a well‐understood phenomenon in congenital diaphragmatic hernia (CDH). We evaluated the fetal morphologic changes on liver growth after surgical procedure in CDH experimental model. A diaphragmatic defect at gestational day E25 and tracheal occlusion (TO) at E27 were surgically created in rabbit fetuses. Five experimental groups were assessed: control group, left CDH, right CDH, CDH + TO, and TO alone. Body and organ growth were measured. For histological evaluation of the CDH effect, liver sections were collected. Left‐CDH group had livers with increased leukocyte infiltration in comparison with controls (p = 0.02). Increased capillary sinusoid congestion and hepatocyte vacuolation were greater in left‐CDH compared with the right‐CDH group (p = 0.05). Capillary sinusoid congestion and interstitial edema were more evident in the left‐CDH compared with CDH + TO group (p = 0.05). Increases in sinusoid congestion, hepatocyte vacuolation, and interstitial edema were also greater in the CDH + TO compared with controls (p ≤ 0.02). Intrathoracic liver weight was higher in right‐CDH compared with left‐CDH group (p < 0.001). Total lung weights (TLW) were significantly lower in both left‐CDH compared with controls (p < 0.001), CDH + TO (p = 0.01), and TO (p < 0.01) and in right‐CDH compared with CDH + TO (p < 0.01) and TO (p < 0.01). Decreased kidney and heart weights were also recorded. Hemodynamics and structural fetal liver changes in laterality were noted in CDH model. Regulation of intrathoracic liver weights seems to be disturbed by the absence of diaphragmic contact. Pulmonary injury is supported by the effect of a first hit, while the growth of internal organs suggests a multisystemic remodeling related to the fetal adaptation. [ABSTRACT FROM AUTHOR]

Summary: Obesity is an evolutionary, chronic, and relapsing disease that consists of a pathological accumulation of adipose tissue able to increase morbidity for high blood pressure, type 2 diabetes, metabolic syndrome, and obstructive sleep apnea in adults, children, and adolescents. Despite intense research over the last 20 years, obesity remains today a disease with a complex and multifactorial etiology. Recently, long non‐coding RNAs (lncRNAs) are emerging as interesting new regulators as different lncRNAs have been found to play a role in early and late phases of adipogenesis and to be implicated in obesity‐associated complications onset. In this review, we discuss the most recent advances on the role of lncRNAs in adipocyte biology and in obesity‐associated complications. Indeed, more and more researchers are focusing on investigating the underlying roles that these molecular modulators could play. Even if a significant number of evidence is correlation‐based, with lncRNAs being differentially expressed in a specific disease, recent works are now focused on deeply analyzing how lncRNAs can effectively modulate the disease pathogenesis onset and progression. LncRNAs possibly represent new molecular markers useful in the future for both the early diagnosis and a prompt clinical management of patients with obesity. [ABSTRACT FROM AUTHOR]

Key Clinical Message: In patients with autoimmune disease, gynecomastia should not be considered as 1 of the first signs of hyperthyroidism, rather it is a breast pathology that can be present even when euthyroidism restoration is achieved. It is unknown whether the autoimmune nature of thyroid disorders or simply the hyperthyroidism effects breast changes. [ABSTRACT FROM AUTHOR]

Introduction: Fetal endoscopic tracheal occlusion in congenital diaphragmatic hernia (CDH) may reduce pulmonary hypertension and ameliorate postnatal cardiac output. The effects of sustained early (ETO) and late (LTO) tracheal occlusion on left ventricular (LV) cells in the lamb model have not been described.Materials and Methods: CDH was created in lambs at 70 days' gestation (term = 145 days). ETO (85 days) or LTO (105 days) was sustained till term. After cesarean section (140 days) fetuses were euthanized and hearts harvested. LV myocardial cells were studied by histological and immunofluorescence (TGF-beta 1, endothelin-1) assays in CDH, ETO, LTO, and the control group (two subjects per group). Small intramyocardial arteries were evaluated by traditional histology.Results: LV myocardial histology in CDH and LTO was similar. ETO-induced LV myocardial cell enlargement and increased endothelin-1 and TGF-beta 1 staining; a weaker immunofluorescence signal was observed in LTO compared with ETO. Myocardial vascular wall thickness was greater in CDH than in controls. ETO was associated with a vascular wall thickness within the range of controls.Conclusion: With only two fetuses in each group, only an explorative evaluation was possible. The time point at which TO is performed seems to have an effect on cardiac morphology. Functional studies as well as confirmation in clinical samples are mandatory. [ABSTRACT FROM AUTHOR]

Popliteal pterygium syndrome (PPS) is a rare dominantly inherited condition, seen in approximately 1 in 300 000 live births.1,2 The presence of webbed tissue, which may extend from the heel to the ischial tuberosity causing knee flexion contracture, is a diagnostic feature of this syndrome. Improvement of the deformity (90°) 1 month later (F) gl Considering the severity of the knee flexion contracture, on the fifth day after birth, the popliteal cutaneous band and the stiff tissue of the joints were resected. The multidisciplinary follow-up should be implemented3-7 to correct lower limb deformities and genitalia malformations at around 2 years of life. [Extracted from the article]

Hemoglobin A1c (HbA1c) is widely used for the screening, diagnosis, monitoring, and management of diabetes mellitus.[1] HbA1c is obtained by a posttranscriptional progressive glycosylation of hemoglobin -chains in proportion to blood glucose concentration and red cell lifespan.[2] In general, any condition which shortens erythrocyte survival or decreases mean erythrocyte age will lower the HbA1c level[[2]]; therefore, in these conditions HbA1c cannot be used to monitor or manage glucose control.[[2]] The osmotic fragility test showed increased erythrocyte osmotic fragility, and at the blood smear we noticed the presence of spherocytes, leading to the diagnosis of HS, confirmed by genetic analysis. [Extracted from the article]

Thyroid diseases may be associated with a wide variety of dermatologic disorders. We report a 15-year-old girl with acquired ichthyosis and hypertrichosis associated with hypothyroidism resulting from autoimmune thyroiditis. Her skin lesions progressively resolved after 8 months of replacement therapy with L-thyroxine. This result supports the hypothesis that hypothyroidism in our patient can be directly related to the pathogenesis of acquired ichthyosis and hypertrichosis. [ABSTRACT FROM AUTHOR]

What's already known about this topic?The pathogenesis of neural tube defects is multifactorial. What does this study add?Although the pathogenesis of neural tube defects is certainly multifactorial, malnutrition after bariatric surgery has to be considered a major risk factor. Women who have undergone bariatric procedure must receive nutritional counselling before and after conception. [ABSTRACT FROM AUTHOR]

Acquired ichthyosis is a rare cutaneous disorder characterized by dry, rough skin with prominent scaling, that involves symmetrically the trunk and limbs and especially on the extensor surfaces. It appears most commonly in adults in association with malignant, autoimmune, metabolic, endocrine, and infectious diseases. We describe a child with acquired ichthyosis in whom an autoimmune hypothyroidism was detected; furthermore, replacement therapy with l-thyroxine resulted in complete remission of ichthyosis. [ABSTRACT FROM AUTHOR]

We report an 8-year-old girl affected by hypochromic, asymptomatic, acquired lesions with a paving-stone aspect on the right lumbosacral area and proximal right leg. The results of serum and urine biochemical screening were normal, as was the bone survey A biopsy was performed. The clinical and histologic aspects led to the diagnosis of connective tissue nevus with zosteriform distribution. [ABSTRACT FROM AUTHOR]