Publications by authors named "Valeria Calcaterra"

181 Publications

"Fitness and Fatness" in Children and Adolescents: An Italian Cross-Sectional Study.

Children (Basel) 2021 Aug 31;8(9). Epub 2021 Aug 31.

Department of Human and Social Science, University of Bergamo, 24127 Bergamo, Italy.

Children with obesity tend to have lower level of physical activity compared to non-obese peers. In fact, sedentary behaviors are prevalent in obese children causing difficulties to perform motor tasks and engaging in sport activities. This, in turn, has direct repercussions on adiposity and related comorbidities. The aim of the study was to investigate several components of fitness and their relationship with the degree of fatness in children. We considered 485 Italian schoolchildren (9.5 ± 1.12 years). BMI and prediction modelling outputs of fat mass were employed as markers of body fatness. Physical fitness (PF) was assessed by the 9-item test battery (explosive power, leg muscle power, arm muscle power, upper body power, coordination, agility, speed and endurance). Differences between groups in the PF tests ( < 0.05) were noted. A similar pattern was reflected in both genders. The relationship between anthropometrics' characteristics and PF tests showed that weight and fat mass had a high level of correlation with different PF tests. Our findings highlight the importance of investigating the degree of fatness in relation with different components of fitness, in children and adolescents. This combination of proxies may cover an unexpectedly helpful screening of the youth population, for both health and performance.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8090762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470229PMC
August 2021

Transcriptomic Analysis of HCN-2 Cells Suggests Connection among Oxidative Stress, Senescence, and Neuron Death after SARS-CoV-2 Infection.

Cells 2021 08 25;10(9). Epub 2021 Aug 25.

IRCCS Centro Neurolesi "Bonino-Pulejo", Via Provinciale Palermo, Contrada Casazza, 98124 Messina, Italy.

According to the neurological symptoms of SARS-CoV-2 infection, it is known that the nervous system is influenced by the virus. We used pediatric human cerebral cortical cell line HCN-2 as a neuronal model of SARS-CoV-2 infection, and, through transcriptomic analysis, our aim was to evaluate the effect of SARS-CoV-2 in this type of cells. Transcriptome analyses revealed impairment in gene, resulting in deregulation of its antioxidant functions, as well as a decrease in the DNA-repairing mechanism, as indicated by the decrease in . Western blot analyses of SOD1 and iNOS confirmed the impairment of reduction mechanisms and an increase in oxidative stress. Upregulation of and a decrease in and point to the blocking of the cell cycle that, according to the deregulation of repairing mechanism, has apoptosis as the outcome. A high level of proapoptotic gene is indeed coherent with neuronal death, as also supported by increased levels of caspase 3. The upregulation of cell-cycle-blocking genes and apoptosis suggests a sufferance state of neurons after SARS-CoV-2 infection, followed by their inevitable death, which can explain the neurological symptoms reported. Further analyses are required to deeply explain the mechanisms and find potential treatments to protect neurons from oxidative stress and prevent their death.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/cells10092189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472605PMC
August 2021

Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca and Voltage-Activated K Channel Activity in Human Insulin Secretion.

Curr Issues Mol Biol 2021 Aug 31;43(2):1036-1042. Epub 2021 Aug 31.

Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.

Liang-Wang syndrome (LIWAS) is a polymalformative syndrome first described in 2019 caused by heterozygous mutation of the KCNMA1 gene encoding the Ca and voltage-activated K channel (BKC). The KCNMA1 variant p.(Gly356Arg) abolishes the function of BKC and blocks the generation of K current. The phenotype of this variant includes developmental delay, and visceral and connective tissue malformations. So far, only three cases of LWAS have been described, one of which also had neonatal diabetes (ND). We present the case of a newborn affected by LIWAS carrying the p.(Gly375Arg) variant who manifested diabetes in the first week of life. The description of our case strongly increases the frequency of ND in LIWAS patients and suggests a role of BK inactivation in human insulin secretion. The knowledge on the role of BKC in insulin secretion is very poor. Analyzing the possible mechanisms that could explain the association of LIWAS with ND, we speculate that BK inactivation might impair insulin secretion through the alteration of ion-dependent membrane activities and mitochondrial functions in β-cells, as well as the impaired intra-islet vessel reactivity.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/cimb43020073DOI Listing
August 2021

Poor Health Related Quality of Life and Unhealthy Lifestyle Habits in Weight-Loss Treatment-Seeking Youth.

Int J Environ Res Public Health 2021 09 4;18(17). Epub 2021 Sep 4.

Department of Movement Sciences and Wellbeing, Parthenope University of Naples, 80133 Naples, Italy.

Obesity is associated with unhealthy lifestyle behaviors and poor Health Related Quality of Life (HRQOL). The cumulative effect of lifestyle behaviors on HRQOL has been demonstrated in chronically ill adolescents, but not in adolescents with obesity. The present study aimed to assess the association between HRQOL and adherence to the Mediterranean Diet (MD) and/or low levels of physical activity (PA) in a large sample of outpatient adolescents with overweight or obesity seeking weight loss treatment. Four-hundred-twenty participants were enrolled from 10 Italian outpatient clinics. The demographics and anthropometric features, KIDMED scores, and exercise levels of the participants were collected, together with parental features. The HRQOL was assessed by the Pediatric Quality of Life Inventory (PedsQL™), Adolescents Version 4.0. PedsQL total score and functioning subscales were lower in adolescents who reported one or two unhealthy habits. Compared with the high/intermediate groups, the risk of low HRQOL was twice as high for each unit increase in BMI SDS, while the percentage was reduced by 12.2% for every unit increase in the KIDMED score and by 32.3% for each hour increase of exercise. The clustering of these two unhealthy behaviors conferred a 120% higher risk of low HRQOL. Similarly, adolescents displaying better diet quality and/or a physically more active lifestyle have better physical and psychological functioning. Further studies are needed to disclose whether these characteristics may be predictive of better adherence to weight loss treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijerph18179355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431705PMC
September 2021

Metabolic Derangement in Pediatric Patient with Obesity: The Role of Ketogenic Diet as Therapeutic Tool.

Nutrients 2021 Aug 16;13(8). Epub 2021 Aug 16.

Pediatric Department, "Vittore Buzzi" Children's Hospital, 20154 Milan, Italy.

Obesity is defined as a condition characterized by an excessive fat accumulation that has negative health consequences. Pediatric obesity is associated with an increased risk for many diseases, including impaired glycemic and lipidic control that may lead to the development of chronic, and potentially disabling, pathologies, such as type 2 diabetes mellitus (T2DM) and cardiovascular events, in adult life. The therapeutic strategy initially starts with interventions that are aimed at changing lifestyle and eating behavior, to prevent, manage, and potentially reverse metabolic disorders. Recently, the ketogenic diet (KD) has been proposed as a promising dietary intervention for the treatment of metabolic and cardiovascular risk factors related to obesity in adults, and a possible beneficial role has also been proposed in children. KD is very low in carbohydrate, high in fat, and moderate to high in protein that may have the potential to promote weight loss and improve lipidic derangement, glycemic control, and insulin sensitivity. In this review, we present metabolic disorders on glycemic and lipidic control in children and adolescents with obesity and indication of KD in pediatrics, discussing the role of KD as a therapeutic tool for metabolic derangement. The results of this review may suggest the validity of KD and the need to further research its potential to address metabolic risk factors in pediatric obesity.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/nu13082805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8400548PMC
August 2021

Acanthosis Nigricans in Children and Adolescents with Type 1 Diabetes or Obesity: The Potential Interplay Role between Insulin Resistance and Excess Weight.

Children (Basel) 2021 Aug 18;8(8). Epub 2021 Aug 18.

Department of Pediatrics, Children's Hospital "Vittore Buzzi", 20154 Milan, Italy.

Acanthosis nigricans (AN) is associated with obesity and type 2 diabetes, where insulin resistance (IR) is considered a predisposing factor. IR can also affect patients with type 1 diabetes (T1D). We evaluated the prevalence of AN in patients with T1D compared to subjects with obesity in order to define the interplay between IR and excess weight. We considered 138 pediatric patients who presented with T1D and 162 with obesity. As controls, 100 healthy normal-weight subjects were included. A physical examination with the detection of AN and biochemical assessments was performed. IR was calculated by using the homeostasis model assessment for IR in patients with obesity and the estimated glucose disposal rate in T1D. The AN prevalence was higher in T1D and obese subjects compared with controls in whom AN was not detected ( = 0.02 and < 0.001, respectively). A greater number of AN cases were observed in subjects with obesity compared with T1D ( < 0.001). Patients with AN were older than subjects without AN ( = 0.005), and they had higher body mass index (BMI) values, waist circumference (WC), fasting triglycerides and blood pressure (all < 0.001). Thirty-five patients with AN exhibited IR with an association between AN presence and IR in patients with obesity ( < 0.001). In T1D, there was an association between AN and being overweight/obese ( = 0.02), independently of IR. AN is a dermatological condition associated with obesity. In T1D, the presence of AN was significantly associated with overweight status or obesity but not IR. The presence of AN in the absence of IR supports the interplay role between impaired insulin signaling, IR and excess weight in the pathogenic mechanism.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8080710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391689PMC
August 2021

Interaction between Autonomic Regulation, Adiposity Indexes and Metabolic Profile in Children and Adolescents with Overweight and Obesity.

Children (Basel) 2021 Aug 9;8(8). Epub 2021 Aug 9.

BIOMETRA Department, University of Milan, 20133 Milan, Italy.

Early obesity predicts initial modifications in cardiac and vascular autonomic regulation. The aim of this study was to assess the possible interaction between non-invasive measures of autonomic cardiovascular control and peripheral endothelium regulation in children with overweight and obesity. We involved 114 young subjects (77M/37F, 12.7 ± 2.2 years) with normal weight (NW, = 46) to overweight or obesity (OB, = 68). Multivariate statistical techniques utilizing a collection of modern indices of autonomic regulation, adiposity indexes and metabolic profile were employed. Resting values show substantial equivalence of data. Conversely, blood pressure variance is greater in NW/OB groups. The correlation matrix between major autonomic and metabolic/hemodynamic variables shows a clustered significant correlation between homogeneous indices. A significant correlation between metabolic indices and endothelial and autonomic control, mostly in its vascular end, was recorded. Particularly, the alpha index is significantly correlated with triglycerides (r = -0.261) and endothelial indices (RHI, r = 0.276). Children with obesity show a link between indices of autonomic and endothelial function, fat distribution and metabolic profile. The optimization of autonomic control, for instance by exercise/nutrition interventions, could potentially prevent/delay the occurrence of structural vascular damage leading to reduced cardiovascular health.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8080686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394084PMC
August 2021

Type 1 diabetes onset in Lombardy region, Italy, during the COVID-19 pandemic: The double-wave occurrence.

EClinicalMedicine 2021 Sep 12;39:101067. Epub 2021 Aug 12.

Pediatric Diabetology Unit, Diabetes Research Institute, Istituto Scientifico San Raffaele, Milano, Italy.

Background: The Italian Lombardy region has been the epicenter of COVID-19 since February 2020. This study analyses the epidemiology of pediatric type 1 diabetes (T1D) onset during the first two pandemic waves and three previous years.

Methods: All the 13 pediatric diabetes centers in Lombardy prospectively evaluated charts of children at T1D onset (0-17 years), during year 2020. After calculating the annual incidence, the data were compared with those of the 3 previous years, using generalized linear models, adjusted for age and sex. Monthly T1D new onsets and diabetic ketoacidosis (DKA) were investigated yearly from 2017 to 2020. Data were extracted from outpatients charts of the pediatric diabetes centers and from the database of the national institute of statistics.

Findings: The estimated incidence proportion of T1D was 16/100·000 in 2020, compared to 14, 11 and 12 in 2019, 2018 and 2017, respectively. When adjusting for age and gender, the incidence was significantly lower in 2018 and 2017 compared to 2020 (adjusted incidence ratio: 0.73 and 0.77 respectively, with 95% CI: 0.63 to 0.84, and 0.67 to 0.83;  = 0·002 and  = 0·01), but no difference was found between the years 2020 and 2019. A reduction trend in the percentage of T1D diagnosis during the first wave (March-April) over the total year diagnoses was observed compared to previous years (11·7% in 2020, 17·7% in 2019, 14·1% in 2018 and 14·4% 2017). No difference was observed during the second wave (October-December) (32·8% in 2020, 33·8% in 2019, 34% in 2018, 30·7% in 2017). The proportion of DKA over the total T1D diagnoses during the second wave had higher trend than the first one (41·7% vs 33·3%), while severe DKA over the total DKA appeared higher during the first wave (60% vs 37·1%).

Interpretation: The study suggests an increase in the incidence of pediatric T1D in Lombardy throughout the past five years. Pandemic waves may have affected the clinical presentation at onset.

Funding: None.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eclinm.2021.101067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365462PMC
September 2021

Nutritional, Gastrointestinal and Endo-Metabolic Challenges in the Management of Children with Spinal Muscular Atrophy Type 1.

Nutrients 2021 Jul 13;13(7). Epub 2021 Jul 13.

Department of Pediatrics, Vittore Buzzi Children's Hospital, University of Milan, 20154 Milan, Italy.

The management of patients with spinal muscular atrophy type 1 (SMA1) is constantly evolving. In just a few decades, the medical approach has switched from an exclusively palliative therapy to a targeted therapy, transforming the natural history of the disease, improving survival time and quality of life and creating new challenges and goals. Many nutritional problems, gastrointestinal disorders and metabolic and endocrine alterations are commonly identified in patients affected by SMA1 during childhood and adolescence. For this reason, a proper pediatric multidisciplinary approach is then required in the clinical care of these patients, with a specific focus on the prevention of most common complications. The purpose of this narrative review is to provide the clinician with a practical and usable tool about SMA1 patients care, through a comprehensive insight into the nutritional, gastroenterological, metabolic and endocrine management of SMA1. Considering the possible horizons opened thanks to new therapeutic frontiers, a nutritional and endo-metabolic surveillance is a crucial element to be considered for a proper clinical care of these patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/nu13072400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8308588PMC
July 2021

SARS-CoV-2 Infected Pediatric Cerebral Cortical Neurons: Transcriptomic Analysis and Potential Role of Toll-like Receptors in Pathogenesis.

Int J Mol Sci 2021 Jul 28;22(15). Epub 2021 Jul 28.

IRCCS Centro Neurolesi "Bonino-Pulejo", Via Provinciale Palermo, Contrada Casazza, 98124 Messina, Italy.

Different mechanisms were proposed as responsible for COVID-19 neurological symptoms but a clear one has not been established yet. In this work we aimed to study SARS-CoV-2 capacity to infect pediatric human cortical neuronal HCN-2 cells, studying the changes in the transcriptomic profile by next generation sequencing. SARS-CoV-2 was able to replicate in HCN-2 cells, that did not express , confirmed also with Western blot, and . Looking for pattern recognition receptor expression, we found the deregulation of scavenger receptors, such as SR-B1, and the downregulation of genes encoding for Nod-like receptors. On the other hand, , and encoding for Toll-like receptors (TLRs) were upregulated. We also found the upregulation of genes encoding for ERK, JNK, NF-κB and Caspase 8 in our transcriptomic analysis. Regarding the expression of known receptors for viral RNA, only RIG-1 showed an increased expression; downstream RIG-1, the genes encoding for TRAF3, IKKε and IRF3 were downregulated. We also found the upregulation of genes encoding for chemokines and accordingly we found an increase in cytokine/chemokine levels in the medium. According to our results, it is possible to speculate that additionally to ACE2 and TMPRSS2, also other receptors may interact with SARS-CoV-2 proteins and mediate its entry or pathogenesis in pediatric cortical neurons infected with SARS-CoV-2. In particular, TLRs signaling could be crucial for the neurological involvement related to SARS-CoV-2 infection.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms22158059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8347089PMC
July 2021

Airway Malacia: Clinical Features and Surgical Related Issues, a Ten-Year Experience from a Tertiary Pediatric Hospital.

Children (Basel) 2021 Jul 20;8(7). Epub 2021 Jul 20.

Department of Pediatrics, V. Buzzi Children's Hospital, 20154 Milan, Italy.

Background: Few studies have been carried out with the aim of describing the clinical course and follow-up of patients with tracheomalacia. We aim to describe the symptoms at diagnosis and the post-treatment clinical course of patients affected by airway malacia.

Methods: We retrospectively analyzed characteristics of pediatric patients with a diagnosis of airway malacia. Patients were classified into three groups: bronchomalacia (BM), tracheomalacia (TM) and tracheo-bronchomalacia (TBM). Demographic and clinical data, diagnostic work-up and surgical treatment were recorded.

Results: 13/42 patients were affected by congenital syndromes (30.9%). Esophageal atresia with or without tracheal-esophageal fistula (EA/TEF) was detected in 7/42 patients (16.7%). Cardiovascular anomalies were found in 9/42 (21.4%) and idiopathic forms in 13/42 (30.9%). BM occurred in 7/42 (16.6%), TM in 23/42 (54.7%) and TBM in 12/42 (28.6%). At the diagnosis stage, a chronic cough was reported in 50% of cases with a higher prevalence in EA/TEF ( = 0.005). Surgery was performed in 16/42 (40%) of children. A chronic cough and acute respiratory failure were correlated to the need for surgery. During follow-up, there was no difference in persistence of symptoms between conservative vs surgical treatment ( = 0.47).

Conclusion: the management of tracheomalacia remains a challenge for pediatricians. Clinical manifestations, such as a barking cough and acute respiratory failure may suggest the need for surgery. Follow-up is crucial, especially in those patients affected by comorbidities, so as to be able to manage effectively the possible persistence of symptoms, including those that may continue after surgical treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8070613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307910PMC
July 2021

"CoVidentary": An online exercise training program to reduce sedentary behaviours in children with type 1 diabetes during the COVID-19 pandemic.

J Clin Transl Endocrinol 2021 Sep 10;25:100261. Epub 2021 Jul 10.

Laboratory of Adapted Motor Activity (LAMA) - Department of Public Health, Experimental Medicine and Forensic Science, University of Pavia, Pavia, Italy.

Aim: We explored the physical activity (PA) level and the variation in glycaemic control in children with type 1 diabetes (T1D) before and during the lockdown. Then, we proposed an online training program supported by sport-science specialists.

Methods: Parents of children with T1D (<18 years) filled out an online survey. Anthropometric characteristics, PA, play, sport and sedentary time and the medical related outcomes were recorded. An adapted online program "Covidentary" was proposed through full-training (FT) and active breaks (AB) modality.

Results: 280 youth (11.8 ± 3.3 years) were included in the analysis. We reported a decline in sport (-2.1 ± 2.1 h/week) and outdoor-plays (-73.9 ± 93.6 min/day). Moreover, we found an increase in sedentary time (+144.7 ± 147.8 min/day), in mean glycaemic values (+25.4 ± 33.4 mg/dL) and insulin delivery (71.8% of patients). 37% of invited patients attended the training program, 46% took part in AB and 54% in FT. The AB was carried out for 90% of the total duration, while the FT for 31%. Both types of training were perceived as moderate intensity effort.

Conclusion: A decline of participation in sport activities and a subsequent increase of sedentary time influence the management of T1D of children, increasing the risk of acute/long-term complications. Online exercise program may contrast the pandemic's sedentary lifestyle.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcte.2021.100261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283025PMC
September 2021

Metabolically Unhealthy Phenotype: A Key Factor in Determining "Pediatric" Frailty.

Pediatr Rep 2021 Jul 1;13(3):340-346. Epub 2021 Jul 1.

Clinical Epidemiology & Biometry, IRCCS Policlinico San Matteo Foundation, 27100 Pavia, Italy.

Frailty (FI) and metabolic syndrome (MS) are each associated with adverse health outcomes. A relationship between FI and MS has previously been described in adults. We considered the prevalence of a metabolically unhealthy phenotype (MUP) in malnourished children with neurological impairment and in subjects with obesity in comparison to a group of elderly individuals at risk of FI, and we did so in order to define the potential similarities that may underline the risk of FI in specific children. We considered 50 undernourished (defined as having a body mass index of BMI ≤ 2, standard deviation score, SDS, according to World Health Organization) disabled children; 50 children with obesity (BMI ≥ 2 SDS); 50 children who were a normal weight (-1 SDS ≤ BMI ≤ +1 SDS); 21 patients who were >75 years old. MUP was defined as the presence of at least one of the following risk factors: hypertension, hyperglycemia or diabetes, hypercholesterolemia, and hypertriglyceridemia. In children with a disability and obesity, a higher prevalence ( < 0.001) and risk (disability OR 54.88, obesity OR 13.37) of MUP was noted compared to children of a normal weight. Compared to elderly patients, the prevalence of MUP did not differ in disabled children. On the contrary, MUP was lower in children with obesity ( < 0.001) and in pediatric subjects of a normal weight ( < 0.01). MS might play a key role in "pediatric" frailty. The extremities of the aging process and malnutrition are likely key factors in the development of FI. A multidisciplinary approach to FI may represent an important milestone for pediatric care.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/pediatric13030042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293425PMC
July 2021

Self-Reported Physical Fitness in Children and Adolescents with Obesity: A Cross-Sectional Analysis on the Level of Alignment with Multiple Adiposity Indexes.

Children (Basel) 2021 Jun 4;8(6). Epub 2021 Jun 4.

Pediatric Department, "Vittore Buzzi" Children's Hospital, 20154 Milan, Italy.

Obesity has been associated with several alterations that could limit physical activity (PA) practice. In pediatrics, some studies have highlighted the importance of enjoyment as a motivation to begin and maintain adherence in PA. Since self-reported physical (SRPF) fitness was related to motivation, the aim of this study was to investigate the existence of differences between SRPF in children with obesity (OB) compared to normal weight (NW). The International Fitness Enjoyment Scale (IFIS) questionnaire was administered to 200 OB and 200 NW children. In all the subjects, height, weight, and BMI and in OB children adiposity indexes including waist circumference (WC), body shape index (ABSI), triponderal mass index (TMI), and fat mass were measured. NW group showed higher IFIS item scores than the OB group ( < 0.01), except in muscular strength. In OB, the anthropometric outcomes were inversely correlated to SRPF outcome except for muscular strength. OB children reported a lower perception of fitness that could limit participation in PA/exercise programs. The evaluation of anthropometric patterns may be useful to prescribe a tailored exercise program considering individual better self-perception outcomes to obtain an optimal PA adherence.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8060476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230218PMC
June 2021

Adipose Tissue Immunomodulation and Treg/Th17 Imbalance in the Impaired Glucose Metabolism of Children with Obesity.

Children (Basel) 2021 Jun 27;8(7). Epub 2021 Jun 27.

Pediatric Department, "Vittore Buzzi" Children's Hospital, 20154 Milano, Italy.

In the last few decades, obesity has increased dramatically in pediatric patients. Obesity is a chronic disease correlated with systemic inflammation, characterized by the presence of CD4 and CD8 T cell infiltration and modified immune response, which contributes to the development of obesity related diseases and metabolic disorders, including impaired glucose metabolism. In particular, Treg and Th17 cells are dynamically balanced under healthy conditions, but imbalance occurs in inflammatory and pathological states, such as obesity. Some studies demonstrated that peripheral Treg and Th17 cells exhibit increased imbalance with worsening of glucose metabolic dysfunction, already in children with obesity. In this review, we considered the role of adipose tissue immunomodulation and the potential role played by Treg/T17 imbalance on the impaired glucose metabolism in pediatric obesity. In the patient care, immune monitoring could play an important role to define preventive strategies of pediatric metabolic disease treatments.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8070554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305706PMC
June 2021

Insulin resistance and potential modulators of ovarian reserve in young reproductive-aged women with obesity and type 1 diabetes.

Gynecol Endocrinol 2021 Sep 17;37(9):823-830. Epub 2021 Jun 17.

Department of Pediatrics, "Vittore Buzzi" Children's Hospital, Milano, Italy.

Introduction: Both obesity and diabetes play a significant role in reproductive disorders in women and insulin resistance (IR) is a confirmed . We evaluated the relationship between IR and an established ovarian reserve biomarker such as anti-mullerian hormone (AMH) together with other potential modulators of ovarian physiology (adiponectin and kisspeptin) in young reproductive-aged group women with obesity and type 1 diabetes (T1D).

Patients And Methods: We recruited 32 female youths: 14 of them presented with T1D (14.6 ± 2.6 years) and 18 with obesity (15.1 ± 2.6 years). The control group included 20 age-matched normal weight females. Each patient underwent physical examination and hormonal assessment. AMH, kisspeptin and adiponectin levels were also measured. IR was calculated as the homeostasis model assessment for insulin resistance (HOMA-IR) and the glucose disposal rate (eGDR) in patients with obesity and with T1D, respectively.

Results: adiponectin and kisspeptin levels were significantly different into groups ( ≤ .001), whereas AMH levels were not. Adiponectin values were higher in controls compared to patients with obesity ( < .001) and T1D ( = .02). Kisspeptin levels were lower in controls compared to patients with obesity ( = .001), without reaching statistical significance when compared to T1D ( = .06). IR was associated with lower adiponectin and higher kisspeptin levels ( < .001 and  = .02, respectively), but not with AMH.

Conclusions: IR displays a relationship with adiponectin and kisspeptin in young reproductive-aged women with obesity and T1D. Interventions to correct IR in adolescents could be part of an early approach to prevent reproductive disorders and to promote factors associated with longevity in adult women.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09513590.2021.1940127DOI Listing
September 2021

Predictive Fat Mass Equations for Children With Inflammatory Bowel Disease.

J Pediatr Gastroenterol Nutr 2021 10;73(4):e98-e104

Department of Pediatrics, "V. Buzzi" Children's Hospital, University of Milan, Milan.

Objective: Evaluate accuracy of skinfold thicknesses and body mass index (BMI) for the prediction of fat mass percentage (FM%) in paediatric inflammatory bowel disease (IBD) and to develop population-specific formulae based on anthropometry for estimation of FM%.

Methods: IBD children (n = 30) and healthy controls (HCs, n = 144) underwent anthropometric evaluation and dual-energy X-ray absorptiometry (DEXA) scan, as the clinical reference for measurement of body composition. Body FM% estimated with skinfolds thickness was compared with FM% measured with DEXA. By means of 4 prediction models, population specific formulae for estimation of FM% were developed.

Results: No significant difference in terms of FM% measured by DEXA was found between IBD population and HCs (FM% 29.6% vs 32.2%, P = 0.108). Triceps skinfold thickness (TSF, Model 2) was better than BMI (Model 1) at predicting FM% (82% vs 68% of variance). The sum of 2 skinfolds (biceps + triceps; SF2, Model 3) showed an improvement in the prediction of FM% as compared with TSF, Model 2 (86% vs 82% of variance). The sum of 4 skinfolds (biceps + triceps + suprailiac + subscapular; Model 4) showed further improvement in the prediction of FM% as compared with SF2 (88% vs 86% of variance).

Conclusions: The sum of 4 skinfolds is the most accurate in predicting FM% in paediatric IBD. The sum of 2 skinfolds is less accurate but more feasible and less prone to error. The newly developed population-specific formulae could be a valid tool for estimation of body composition in IBD population and an alternative to DEXA measurement.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000003188DOI Listing
October 2021

Sex-Specific Differences in the Relationship between Insulin Resistance and Adiposity Indexes in Children and Adolescents with Obesity.

Children (Basel) 2021 May 26;8(6). Epub 2021 May 26.

Department of Pediatrics, "Vittore Buzzi" Children's Hospital, 20154 Milan, Italy.

New indexes of adiposity have been introduced to evaluate body-fat distribution and cardiometabolic risk. However, data on the correlation between Insulin Resistance (IR) and these new indexes are limited. We therefore evaluated the relationship between IR and adiposity indexes in children and adolescents with obesity, focusing on gender differences. We retrospectively enrolled 586 patients with obesity (10.80 ± 2.63; 306F/279M). As adiposity indexes we considered body mass index (BMI), BMI-z score, WC, waist-to-height ratio (WHtR), a body shape index (ABSI), triponderal mass index (TMI), visceral adiposity index (VAI) and conicity index (ConI). The homeostasis model assessment for insulin resistance (HOMA-IR), HOMA of percentage β-cell function (HOMA-β), quantitative insulin sensitivity check index (QUICKI), and triglyceride and glucose index (TyG-index) were measured and recorded as IR surrogates. In both sexes, WC and VAI significantly correlated with all IR measurements ( < 0.001). BMI significantly correlated ( < 0.001) with all IR parameters except for the TyG-index in females. Fat mass and TMI correlated with IR parameters only in females, BMI-z score with IR markers except for HOMA-β in males, WHtR with HOMA-β in both sexes ( < 0.05), free fat mass with HOMA-IR and QUICKI only in females ( < 0.01), ConI correlated with the TyG index in females ( = 0.01). Tryglicerides and SBP were correlated with all IR measurements ( < 0.001), in both sexes. Correlations between different sex parameters were significantly more evident in middle puberty. The relationship between IR surrogates and obesity indexes is influenced by gender in pediatrics. Sex-specific differences in obesity-related complications should be considered in preventive intervention decision-making.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8060449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226600PMC
May 2021

Bariatric Surgery in Adolescents: To Do or Not to Do?

Children (Basel) 2021 05 27;8(6). Epub 2021 May 27.

Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

Pediatric obesity is a multifaceted disease that can impact physical and mental health. It is a complex condition that interweaves biological, developmental, environmental, behavioral, and genetic factors. In most cases lifestyle and behavioral modification as well as medical treatment led to poor short-term weight reduction and long-term failure. Thus, bariatric surgery should be considered in adolescents with moderate to severe obesity who have previously participated in lifestyle interventions with unsuccessful outcomes. In particular, laparoscopic sleeve gastrectomy is considered the most commonly performed bariatric surgery worldwide. The procedure is safe and feasible. The efficacy of this weight loss surgical procedure has been demonstrated in pediatric age. Nevertheless, there are barriers at the patient, provider, and health system levels, to be removed. First and foremost, more efforts must be made to prevent decline in nutritional status that is frequent after bariatric surgery, and to avoid inadequate weight loss and weight regain, ensuring successful long-term treatment and allowing healthy growth. In this narrative review, we considered the rationale behind surgical treatment options, outcomes, and clinical indications in adolescents with severe obesity, focusing on LSG, nutritional management, and resolution of metabolic comorbidities.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8060453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204230PMC
May 2021

Polycystic Ovary Syndrome in Insulin-Resistant Adolescents with Obesity: The Role of Nutrition Therapy and Food Supplements as a Strategy to Protect Fertility.

Nutrients 2021 May 28;13(6). Epub 2021 May 28.

Pediatric Department, "Vittore Buzzi" Children's Hospital, 20154 Milan, Italy.

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in young reproductive-aged women. PCOS is often associated with obesity and impairs reproductive health. Even though several theories have been proposed to explain the pathogenic mechanism of PCOS, the role of insulin resistance (IR) as a key etiological component, independently of (but amplified by) obesity, is well recognized. The consequent hyperinsulinemia activates excessive ovarian androgen production, leading to PCOS. Additionally, the state of chronic inflammation related to obesity impacts ovarian physiology due to insulin sensitivity impairment. The first-line treatment for adolescents with obesity and PCOS includes lifestyle changes; personalized dietary interventions; and, when needed, weight loss. Medical nutrition therapy (MNT) and the use of specific food supplements in these patients aim at improving symptoms and signs, including insulin resistance and metabolic and reproductive functions. The purpose of this narrative review is to present and discuss PCOS in adolescents with obesity, its relationship with IR and the role of MNT and food supplements in treatment. Appropriate early dietary intervention for the management of adolescents with obesity and PCOS should be considered as the recommended approach to restore ovulation and to protect fertility.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/nu13061848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228678PMC
May 2021

Impaired Glucose-Insulin Metabolism in Multisystem Inflammatory Syndrome Related to SARS-CoV-2 in Children.

Children (Basel) 2021 May 13;8(5). Epub 2021 May 13.

Pediatric Department, "Vittore Buzzi" Children's Hospital, 20154 Milan, Italy.

An interaction between metabolic glucose impairment and coronavirus disease 2019 is reported. The development of a severe multisystem inflammatory syndrome in children (MIS-C) related to SARS-CoV-2 infection has been described. We evaluated the impact of MIS-C on glycemic patterns in pediatric patients. A group of 30 children and adolescents affected by MIS-C were considered; all patients were normal weight. Clinical and biochemical assessments, including surrogate markers of insulin resistance (IR) such as homeostasis model analysis-IR (HOMA-IR) and triglyceride-glucose (TyG) indexes, were recorded. Patients were also invited to undergo an intermittently scanned continuous glucose monitoring (isCGM). HOMA-IR index was calculated in 18 patients (60%), of which 17 (94%) revealed a pathological value. TyG index was computed for all patients and pathological values were detected in all cases. In 15 patients, isCGM data were recorded on average for 9 days (±3 days). Overall, average glucose was 105 mg/dL (±16 mg/dL) and average time spent in the 70-180 mg/dL range (TIR) was 93.76%, with nearly 10% of glucose readings in the 141-180 mg/dL range; glycemic fluctuations over the hyperglycemic threshold were detected in four patients. Regular glucose monitoring may be useful to prevent metabolic imbalance and obtain a better outcome.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8050384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8152288PMC
May 2021

Supporting the Regional Network for Children with Burn Injuries in a Pediatric Referral Hospital for COVID-19.

Healthcare (Basel) 2021 May 8;9(5). Epub 2021 May 8.

Pediatric Department, "Vittore Buzzi" Children's Hospital, 20154 Milan, Italy.

Considerable reorganization of the regional network for pediatric burn treatment during the pandemic was required to cope with severe burn injuries in small children. In support of the emergency network for burns during the COVID-19 pandemic, we referred to regional indications for centralization in our hospital for all children aged less than 5 years who presented with severe burns, >15% of total body surface area (TBSA), or who necessitated admittance to the pediatric intensive care unit (PICU). A new service with a dedicated management protocol was set up to treat pediatric burns in our SARS-CoV-2 pediatric hospital during the lockdown period. A multidisciplinary burn treatment team was set up to offer compassionate and comprehensive burn care. Patient's clinical data, burn features, treatment and follow up were recorded. A higher number of admissions was recorded from February to December 2020 compared with the same period in 2019 (52 vs. 32 admissions). Eighteen patients were admitted to the COVID-19 Service (10 M/8 F; 3.10 ± 2.6 yrs); ten children (55.5%) were hospitalized in the ward and eight in the ICU (44.5%). Fifty percent of the cases presented with lesions extending over >15% TBSA; in one case, TBSA was 35%. All patients suffered 2nd-degree burns; while five patients also had 3rd degree lesions covering more than 15% TBSA. All of the injuries occurred at home. No major secondary infections were recorded. Successful treatment was achieved in 94.4% of cases. The average length of stay was 15.2 ± 12.6 days. A proactive, carefully planned service, involving a multidisciplinary team, was created to ensure appropriate care in a pediatric hospital during the COVID-19 period, despite the effective pandemic associated challenges. Better health promotion in pediatric burn cases should also include dedicated TBSA assessment and a database of children's burn characteristics.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/healthcare9050551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8150957PMC
May 2021

Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene.

Pediatr Rep 2021 May 2;13(2):210-215. Epub 2021 May 2.

Pediatric Unit, Department of Pediatrics, "Vittore Buzzi" Children's Hospital, 20154 Milan, Italy.

Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysis via next generation sequencing (NGS) was performed finding two mutations associated with thyroid dyshormonogenesis: c.7813 C > T, homozygous in the exon 45 of the thyroglobulin gene (TG) and c.1682 G > A heterozygous in exon 15 of the SLC26A4 gene (pendrin). Sanger sequencing of parents' DNA samples revealed that the first mutation (c.7813 C > T) was inherited from both of them, while the second one (c.1682 G > A) was inherited from the mother. Hormone replacement therapy was started, following which a gradual decrease in the size of the goiter was seen with the normalization of hormonal levels. Normal infant growth status and neurological development were recorded during follow-up. Neonatal dyshormonogenetic goiter with hypothyroidism may represent an unusual cause of neonatal neck mass. Early identification and hormone replacement therapy are crucial for a better neurodevelopmental outcome. Genetic analysis is mandatory in order to reach a specific diagnosis and to elucidate new patterns of thyroid disorder.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/pediatric13020029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163152PMC
May 2021

Diabetes and Prediabetes in Children With Cystic Fibrosis: A Systematic Review of the Literature and Recommendations of the Italian Society for Pediatric Endocrinology and Diabetes (ISPED).

Front Endocrinol (Lausanne) 2021 29;12:673539. Epub 2021 Apr 29.

Diabetes Unit, Bambino Gesù Children's Hospital, Rome, Italy.

Cystic fibrosis related diabetes (CFRD) is a comorbidity of cystic fibrosis (CF) that negatively impacts on its clinical course. Prediabetes is an important predictor of either CFRD development and unfavorable prognosis of CF in both pediatric and adult patients. International guidelines recommend insulin only in case of CFRD diagnosis. Whether early detection and treatment of prediabetes may contribute to improve the clinical course of CF is still debated. A subgroup of pediatric diabetologists of the Italian Society for Pediatric Endocrinology and Diabetology (ISPED) performed a systematic review of the literature based on predefined outcomes: impact of pre-diabetes on clinical outcomes and on the risk of developing CFRD; diagnosis of diabetes and pre-diabetes under 10 years of age; effectiveness of therapy on glycemic control, impact of therapy on pulmonary function and nutritional status. Thirty-one papers were selected for the analysis data presented in these papers were reported in tables sorted by outcomes, including comprehensive evidence grading according to the GRADE approach. Following the grading of the quality of the evidence, the entire ISPED diabetes study group achieved consensus for the Italian recommendations based on both evidence and clinical experience. We concluded that in patients with CF, prediabetes should be carefully considered as it can evolve into CFRD. In patients with CF and prediabetic conditions, after complete evaluation of the OGTT trend, glucometrics, glycemic values measured during pulmonary exacerbations and/or steroid therapy, early initiation of insulin therapy could have beneficial effects on clinical outcomes of patients with CF and prediabetes.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2021.673539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130616PMC
April 2021

Brown Adipose Tissue: New Challenges for Prevention of Childhood Obesity. A Narrative Review.

Nutrients 2021 Apr 24;13(5). Epub 2021 Apr 24.

Department of Pediatrics, Vittore Buzzi Children's Hospital, University of Milan, 20154 Milan, Italy.

Pediatric obesity remains a challenge in modern society. Recently, research has focused on the role of the brown adipose tissue (BAT) as a potential target of intervention. In this review, we revised preclinical and clinical works on factors that may promote BAT or browning of white adipose tissue (WAT) from fetal age to adolescence. Maternal lifestyle, type of breastfeeding and healthy microbiota can affect the thermogenic activity of BAT. Environmental factors such as exposure to cold or physical activity also play a role in promoting and activating BAT. Most of the evidence is preclinical, although in clinic there is some evidence on the role of omega-3 PUFAs (EPA and DHA) supplementation on BAT activation. Clinical studies are needed to dissect the early factors and their modulation to allow proper BAT development and functions and to prevent onset of childhood obesity.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/nu13051450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145569PMC
April 2021

Exploring the inter-subject variability in the relationship between glucose monitoring metrics and glycated hemoglobin for pediatric patients with type 1 diabetes.

J Pediatr Endocrinol Metab 2021 May 7;34(5):619-625. Epub 2021 Apr 7.

Department of Electrical, Computer and Biomedical Engineering, Università degli Studi di Pavia, Pavia, Italy.

Objectives: Despite the widespread diffusion of continuous glucose monitoring (CGM) systems, which includes both real-time CGM (rtCGM) and intermittently scanned CGM (isCGM), an effective application of CGM technology in clinical practice is still limited. The study aimed to investigate the relationship between isCGM-derived glycemic metrics and glycated hemoglobin (HbA1c), identifying overall CGM targets and exploring the inter-subject variability.

Methods: A group of 27 children and adolescents with type 1 diabetes under multiple daily injection insulin-therapy was enrolled. All participants used the isCGM Abbott's FreeStyle Libre system on average for eight months, and clinical data were collected from the Advanced Intelligent Distant-Glucose Monitoring platform. Starting from each HbA1c exam date, windows of past 30, 60, and 90 days were considered to compute several CGM metrics. The relationships between HbA1c and each metric were explored through linear mixed models, adopting an HbA1c target of 7%.

Results: Time in Range and Time in Target Range show a negative relationship with HbA1c (R>0.88) whereas Time Above Range and Time Severely Above Range show a positive relationship (R>0.75). Focusing on Time in Range in 30-day windows, random effect represented by the patient's specific intercept reveals a high variability compared to the overall population intercept.

Conclusions: This study confirms the relationship between several CGM metrics and HbA1c; it also highlights the importance of an individualized interpretation of the CGM data.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2020-0725DOI Listing
May 2021

A Multivariate Pattern Analysis of Metabolic Profile in Neurologically Impaired Children and Adolescents.

Children (Basel) 2021 Mar 1;8(3). Epub 2021 Mar 1.

Pediatric Department, "V. Buzzi" Children's Hospital, 20154 Milan, Italy.

Background: The prevalence of pediatric metabolic syndrome is usually closely linked to overweight and obesity; however, this condition has also been described in children with disabilities. We performed a multivariate pattern analysis of metabolic profiles in neurologically impaired children and adolescents in order to reveal patterns and crucial biomarkers among highly interrelated variables.

Patients And Methods: We retrospectively reviewed 44 cases of patients (25M/19F, mean age 12.9 ± 8.0) with severe disabilities. Clinical and anthropometric parameters, body composition, blood pressure, and metabolic and endocrinological assessment (fasting blood glucose, insulin, total cholesterol, high-density lipoprotein cholesterol, triglycerides, glutamic oxaloacetic transaminase, glutamate pyruvate transaminase, gamma-glutamyl transpeptidase) were recorded in all patients. As a control group, we evaluated 120 healthy children and adolescents (61M/59F, mean age 12.9 ± 2.7).

Results: In the univariate analysis, the children-with-disabilities group showed a more dispersed distribution, thus with higher variability of the features related to glucose metabolism and insulin resistance (IR) compared to the healthy controls. The principal component (PC1), which emerged from the PC analysis conducted on the merged dataset and characterized by these variables, was crucial in describing the differences between the children-with-disabilities group and controls.

Conclusion: Children and adolescents with disabilities displayed a different metabolic profile compared to controls. Metabolic syndrome (MetS), particularly glucose metabolism and IR, is a crucial point to consider in the treatment and care of this fragile pediatric population. Early detection of the interrelated variables and intervention on these modifiable risk factors for metabolic disturbances play a central role in pediatric health and life expectancy in patients with a severe disability.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/children8030186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998889PMC
March 2021

Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review.

Pediatr Rep 2021 Mar 1;13(1):104-112. Epub 2021 Mar 1.

Pediatric Cardiology Unit, "Vittore Buzzi" Children's Hospital, 20154 Milano, Italy.

: Cardiac rhabdomyomas (CRs) are the most common cardiac tumors in newborns. Approximately 80-90% of cases are associated with tuberous sclerosis complex (TSC). In selective cases, Everolimus has resulted in a remarkable tumoral regression effect in children with TS. The optimal dosage for neonates is still unknown. : We describe the use of Everolimus in a neonate with multiple biventricular CRs, causing subaortic obstruction, in which a low-dose treatment (0.1 mg/die), in an effort to maintain serum trough levels of 3-7 ng/mL, was successfully used off-label, without adverse effects. : We showed that a low-dose Everolimus regimen may be an effective and safe treatment for CR regression in TS neonates, when the minimum therapeutic range was maintained.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/pediatric13010015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7931111PMC
March 2021

Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association.

Case Rep Pediatr 2021 8;2021:6633541. Epub 2021 Mar 8.

Department of Pediatrics, Children's Hospital "V. Buzzi", 20157 Milano, Italy.

Background: Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. . We present the case of a boy with a neonatal diagnosis of SW-CAH who showed low potassium blood levels from the age of 15 years. This electrolytic alteration was, at first, attributed to an excessive action of mineralocorticoid drugs. Due to persistence of hypokalemia, SLC12A3 whole genome sequencing was performed, showing a heterozygous C to base pair substitution at position 965 in gene SLC12A3. This mutation is related to Gitelman syndrome with autosomal recessive transmission.

Conclusions: SW-CAH and GS determine opposite values of potassium in the absence of specific therapy, with a natural tendency to compensate each other. The symptom overlap makes diagnosis difficult. Organic causes of hypokalemia in patients undergoing life-saving therapy should not be excluded.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1155/2021/6633541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7964118PMC
March 2021

Case Report: Eosinophilic Myenteric Ganglionitis in a Child With Hirschsprung's Disease: A Challenge in Pseudo-Obstruction.

Front Pediatr 2020 4;8:617309. Epub 2021 Feb 4.

Department of Biomedical and Clinical Science "L. Sacco", University of Milan, Milan, Italy.

The presentation of eosinophilic myenteric ganglionitis (EMG) can be similar to that of Hirschsprung's disease (HD). In a limited number of cases of pediatric patients, the diagnosis of both EMG and HD are reported. A case of pseudo-obstruction in EMG occurring in a child with HD diagnosis is discussed with literature review. A boy aged 2 years and 6 months presented with intractable constipation and abdominal distension. Histological HD diagnosis was carried out and transanal Soave pullthrough was performed. At the age of 3 years and 2 months, an infectious enterocolitis occurred. One month later, he presented with constipation, marked abdominal distension and melena. Full thickness colonic biopsies revealed eosinophilic myenteric ganglionitis. Specific IgE tests were positive for several foods. Dietary exclusion was adopted with resolution of clinical symptoms and histologic remission. EMD may occur in patients with HD. At the onset, EMD may be associated with functional intestinal obstruction. The use of an elimination diet proved effective for the relief of symptoms. Long term follow-up is mandatory to define the timing of the reintroduction of foods.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2020.617309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890130PMC
February 2021
-->