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Diabetic cardiomyopathy (DbCM) is a common complication in individuals with type 2 diabetes mellitus (T2DM), and its exact pathogenesis is still debated. It was hypothesized that chronic hyperglycemia and insulin resistance activate critical cellular pathways that are responsible for numerous functional and anatomical perturbations in the heart. Interstitial inflammation, oxidative stress, myocardial apoptosis, mitochondria dysfunction, defective cardiac metabolism, cardiac remodeling, hypertrophy and fibrosis with consequent impaired contractility are the most common mechanisms implicated. Epigenetic changes also have an emerging role in the regulation of these crucial pathways. The aim of this review was to highlight the increasing knowledge on the molecular mechanisms of DbCM and the new therapies targeting specific pathways.
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Diabetes Mellitus Tipo 2 , Cardiomiopatías Diabéticas , Estrés Oxidativo , Humanos , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/patología , Diabetes Mellitus Tipo 2/complicaciones , Cardiomiopatías Diabéticas/metabolismo , Cardiomiopatías Diabéticas/patología , Cardiomiopatías Diabéticas/genética , Cardiomiopatías Diabéticas/etiología , Animales , Resistencia a la Insulina , Epigénesis Genética , Miocardio/metabolismo , Miocardio/patología , Apoptosis/genéticaRESUMEN
The purpose of the present study was to evaluate the concentrations of some bone turnover markers in preterm neonates with uncomplicated clinical course in the first month of life. Samples from 13 preterm neonates were collected at three different times: at birth (T0) from umbilical cord blood (UCB); and at 15 (T1) and 30 (T2) days of life from peripheral blood (PB). The concentrations of calcium (Ca), phosphate (P), total alkaline phosphatase (ALP), Collagen Type 1 Amino-terminal Propeptide (PINP), osteocalcin (OC), Collagen Type 1 Carboxyl-Terminal Telopeptide (CTX) and Leptin were assessed. A statistically significant difference for ALP concentration at birth versus T1 and T2 was found. An evident increase in the median concentrations of CTX, OC and PINP from T0 to T2 were observed. A significant difference was also found for Leptin concentration at T0 compared to T1. In preterm infants, in the absence of acute or chronic medical conditions and without risk factors for metabolic bone disease (MBD) of prematurity, there is a significant increase in bone turnover markers during the first month of life. The knowledge of the variations in these markers in the first weeks of life, integrated by the variations in the biochemical indicators of bone metabolism, could help in recognizing any conditions at risk of developing bone diseases.
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BACKGROUND/AIM: Late vitamin K deficiency bleeding (VKDB) during early infancy is a serious problem worldwide. Vitamin K (VK) deficiency commonly occurs in newborns who are exclusively breastfed. Protein Induced by VK Absence (PIVKA-II) has been identified as an early indicator of subclinical VK deficiency in neonates, surpassing prothrombin time. To assess PIVKA-II levels at 48 h, 1 and 3 months of age in full-term newborns who were exclusively breastfed and received varying VKDB prophylaxis regimens. METHODS: A prospective observational study was conducted in four hospitals, enrolling 105 newborns. PIVKA-II levels were measured using a sandwich-type enzyme-linked immunosorbent assay. RESULTS: At 48 h of age, there was no significant difference in PIVKA-II concentrations between newborns who received intramuscular administration of 1 mg of phylloquinone (VK1) and those who received oral administration of 2 mg of VK1 at birth. At 1 and 3 months of life, infants who received any supplementation regimen between 2 and 14 weeks exhibited significantly lower PIVKA-II concentrations compared to infants who received only 1 mg of intramuscular VK1 at birth. The prophylaxis involving a dose of 1 mg of intramuscular VK1 at birth followed by oral administration of 150 µg/day of VK1 from the 2nd to the 14th week of life showed the lowest PIVKA-II blood concentrations. CONCLUSIONS: Oral supplementation of VK1 after discharge significantly reduced PIVKA-II concentrations in exclusively breastfed term infants. These findings suggest the importance of oral VK1 supplementation in exclusively breastfed infants during their first 3 months of life to avoid the risk of VK insufficiency.
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Sangrado por Deficiencia de Vitamina K , Vitamina K , Lactante , Femenino , Recién Nacido , Humanos , Protrombina/metabolismo , Precursores de Proteínas , Biomarcadores/metabolismo , Vitamina K 1 , Sangrado por Deficiencia de Vitamina K/prevención & controlRESUMEN
Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypotonia, and an increased risk for cerebrovascular disease and insulin resistance. Autosomal recessive biallelic loss-of-function genomic variants in the centrosomal pericentrin (PCNT) gene on chromosome 21q22 cause MOPDII. Over the past decade, exome sequencing (ES) and massive RNA sequencing have been effectively employed for both the discovery of novel disease genes and to expand the genotypes of well-known diseases. In this paper we report the results both the RNA sequencing and ES of three patients affected by MOPDII with the aim of exploring whether differentially expressed genes and previously uncharacterized gene variants, in addition to PCNT pathogenic variants, could be associated with the complex phenotype of this disease. We discovered a downregulation of key factors involved in growth, such as IGF1R, IGF2R, and RAF1, in all three investigated patients. Moreover, ES identified a shortlist of genes associated with deleterious, rare variants in MOPDII patients. Our results suggest that Next Generation Sequencing (NGS) technologies can be successfully applied for the molecular characterization of the complex genotypic background of MOPDII.
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Enanismo , Microcefalia , Osteocondrodisplasias , Humanos , Femenino , Embarazo , Microcefalia/genética , Exoma/genética , Transcriptoma , Retardo del Crecimiento Fetal/genética , Enanismo/genética , Osteocondrodisplasias/genética , Genotipo , MutaciónRESUMEN
BACKGROUND: Bronchiolitis is a major cause of hospitalization in infants, particularly in the first six months of life, with approximately 60-80% of admissions due to respiratory syncytial virus (RSV) infection. Currently, no prophylactic options are available for healthy infants. The present study aimed at describing the demographic, clinical, and epidemiological characteristics of infants hospitalized for bronchiolitis in the Apulia region of Italy in 2021. METHODS: From January to December 2021, data on children aged 0-12 months admitted for bronchiolitis in nine neonatal or pediatric units covering 61% of pediatric beds of hospitals in the Apulia region of Italy were analyzed. Demographic data, comorbidities, need for oxygen support, length of hospital stay, palivizumab administration, and outcomes were collected. For the purpose of the analysis, patients were divided into those aged 0-3 months and > 3 months. A multivariate logistic regression model was used to explore associations between the need for oxygen support and sex, age, comorbidities, history of prematurity, length of hospital stay, and palivizumab administration. RESULTS: This study included 349 children aged 0-12 months admitted for bronchiolitis, with a peak of hospitalization in November (7.4 cases/1,000 children). Of these patients, 70.5% were RSV positive, 80.2% were aged 0-3 months, and 73.1% required oxygen support. Moreover, 34.9% required observation in the sub-intensive care unit, and 12.9% in the intensive care unit. Of the infants who required intensive care, 96.9% were aged 0-3 months and 78.8% were born at term. Three patients required mechanical ventilation and one, who required Extra Corporeal Membrane Oxygenation, died. Children aged 0-3 months were more likely to show dyspnea, need oxygen support, and have a longer hospital stay. CONCLUSIONS: The present study showed that almost all of the children who required intensive care support were aged ≤ 3 months and most were born at term. Therefore, this age group remains the highest risk group for severe bronchiolitis. Preventive measures such as single-dose monoclonal antibody immunoprophylaxis, and maternal and childhood vaccination against RSV, may reduce the high public health burden of bronchiolitis.
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Bronquiolitis , Infecciones por Virus Sincitial Respiratorio , Recién Nacido , Lactante , Humanos , Niño , Palivizumab/uso terapéutico , Antivirales/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Hospitalización , Bronquiolitis/epidemiología , Bronquiolitis/prevención & control , Infecciones por Virus Sincitial Respiratorio/epidemiología , Infecciones por Virus Sincitial Respiratorio/prevención & control , Italia/epidemiologíaRESUMEN
The renin-angiotensin-aldosterone system (RAAS) plays a key role in development of fetal kidney. Angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor type 1 (AT1) antagonists alter RAAS-signaling compromising metanephrogenesis, and vascular and tubular development. The result is a fetal "RAS blockage syndrome" that may occur not only following exposure during the second and third trimester, but also after the use of these drugs at the beginning of pregnancy. The in-utero exposure to AT1 antagonists is not confined exclusively to the risk of neonatal renal failure, but also to skull ossification defect that worsens the neonatal prognosis. We report the case of early arterial hypertension development, marked increase of plasma renin and aldosterone, severe hypocalvaria, and low bone mineralization in a female preterm infant in-utero exposed to AT1 antagonists.
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Sistema Renina-Angiotensina , Renina , Recién Nacido , Embarazo , Femenino , Humanos , Sistema Renina-Angiotensina/fisiología , Renina/farmacología , Recien Nacido Prematuro , Riñón , Angiotensinas/farmacologíaRESUMEN
BACKGROUND: Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to evaluate the incidence and etiological classification of CH in Apulia in a three-year period according to the reorganization of the regional screening program in a single central laboratory, as well as to analyze the growth characteristics and the associated risk factors of the CH newborns diagnosed during the study period. METHODS: Data derived from the reorganization of the newborn screening program for CH in a single central laboratory that collects dried blood spot (DBS) from 27 Maternity Hospitals are analyzed over a three-year period. Birth weight and length, daily dose of L-T4 at specific key points (3, 6, 12 and 18 months, 2, 2.5 and 3 years) were also obtained from medical records of the CH newborns during the study period and calculated as standard deviation score (SDS). RESULTS: The screening program diagnosed 90 newborns with confirmed CH (incidence 1:990; recall rate: 3.6%). In detail, 75.6% newborns had an eutopic thyroid, and 24.4% had thyroid dysgenesis; 33 out of the 90 newborns (36.6%) had one or more risk factors. Among these, the multiple pregnancies are the most important because they tripled the risk of CH. At diagnosis, TSH levels were different between patients with dysgenesis and those with an eutopic thyroid (p = 0.005). Treatment was started at a mean of 18.5 ± 12.8 days of life. The mean starting dose of levothyroxine (L-T4) was 11.38 ± 2.46 µg/kg/day. CONCLUSIONS: The results of these study show an increase of CH cases in newborns with an eutopic thyroid compared to the traditional classification. The centralization of the screening program allows a closer cooperation between laboratory and clinical centers and facilitates the implementation of appropriate diagnostic evaluations and timely initiation of treatment, with positive effects on the management of the condition.
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Hipotiroidismo Congénito , Hipotiroidismo Congénito/diagnóstico , Hipotiroidismo Congénito/epidemiología , Femenino , Humanos , Recién Nacido , Tamizaje Neonatal , Embarazo , Tirotropina , Tiroxina/uso terapéuticoRESUMEN
The risk of developing cardiovascular diseases (CVDs) arises from the interaction of prenatal factors; epigenetic regulation; neonatal factors; and factors that affect childhood and adolescence, such as early adiposity rebound (AR) and social and environmental influences. Thus, CVD risk varies between the group of low-risk metabolically healthy normal-weight subjects (MHNW); the intermediate-risk group, which includes metabolically healthy obese (MHO) and metabolically unhealthy normal-weight subjects (MUHNW); and the high-risk group of metabolically unhealthy obese (MUHO) subjects. In this continuum, several risk factors come into play and contribute to endothelial damage, vascular and myocardial remodeling, and atherosclerotic processes. These pathologies can occur both in prenatal life and in early childhood and contribute to significantly increasing CVD risk in young adults over time. Early intervention in the pediatric MUHO population to reduce the CVD risk during adulthood remains a challenge. In this review, we focus on CVD risk factors arising at different stages of life by performing a search of the recent literature. It is urgent to focus on preventive or early therapeutic strategies to stop this disturbing negative metabolic trend, which manifests as a continuum from prenatal life to adulthood.
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Enfermedades Cardiovasculares , Síndrome Metabólico , Adolescente , Adulto , Índice de Masa Corporal , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Enfermedades Cardiovasculares/metabolismo , Niño , Preescolar , Epigénesis Genética , Humanos , Recién Nacido , Síndrome Metabólico/epidemiología , Obesidad/epidemiología , Fenotipo , Factores de Riesgo , Adulto JovenRESUMEN
BACKGROUND AND AIMS: Coronavirus disease 2019 (COVID-19) lockdown has represented an inedited model of increased metabolic risk in all age groups, due to negative changes in dietary habits, physical activity, lifestyle. These effects have been generally explored at a population level in distinct age groups. Potential intra-familial, specific effects in adults and children sharing the same socio-economic, cultural level and living habits have been scarcely explored. We aimed to characterize changes of anthropometric indices in parents and in their children during COVID-19 lockdown. METHODS: A cohort of 149 couple parent/children were prospectively enrolled. By a validated questionnaire we explored changes of body mass index (BMI) and individual lifestyle during a 2-month lockdown (May- July 2020). RESULTS: BMI increased in 70.5% of parents and in 67.8% of their children, with a Δ-BMI of 1.44+0.09 kg/ m 2 and 0.36+0.02 Kg/m 2 , respectively. BMI increments, however, were only significant in adults and did not correlate in the couple parents/children. Most adults (80.5%) and children (71.4%) did not perform regular physical activity during the lockdown. Direct correlations between dietary changes and BMI variations became evident in children, mainly in terms of a decreased consumption of fresh fruit, pulses, fish, and an increased consumption of cereals, carbohydrates, dairy products, olive oil. In normal weight, overweight and obese children, but not in adults, the increase in sleep hours increased with BMI. CONCLUSIONS: Despite marked lifestyle changes imposed by the COVID-19 lockdown, BMI variations in parents were independent from those observed in their children, pointing to different outcomes in response to the same external, critical event. Thus, primary prevention measures aimed at maintaining a healthy lifestyle require different approaches according to age.
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COVID-19 , Obesidad Infantil , Animales , Índice de Masa Corporal , COVID-19/epidemiología , Niño , Control de Enfermedades Transmisibles , Conducta Alimentaria , Humanos , Estilo de Vida , Obesidad Infantil/diagnóstico , Obesidad Infantil/epidemiología , Obesidad Infantil/prevención & controlRESUMEN
INTRODUCTION: Multiple daily injections (MDI) and continuous subcutaneous insulin infusion (CSII) are two modalities of treating type 1 diabetes mellitus (T1DM). The benefits of CSII on long-term metabolic control and outcomes compared to those of MDI are still debated. We investigated both vascular function and myocardial performance in T1DM adolescents on MDI or CSII treatment. METHODS: One hundred twenty-three T1DM subjects (mean age 14.16±2.55 years), 63 on MDI regimen, 60 on CSII, and 57 controls were enrolled. Anthropometric and biochemical characteristics were evaluated. Ultrasound assessments of carotid intima-media thickness (cIMT), flow-mediated dilatation of brachial artery, anteroposterior diameter of the infrarenal abdominal aorta (APAO), and transthoracic echocardiography were performed. RESULTS: T1DM subjects on the CSII regimen showed better glycemic control than those on MDI, expressed as glycated haemoglobin (HbA1c). c-IMT and APAO were higher in MDI than CSII patients (0.61±0.11 mm vs. 0.56±0.07 mm, p=0.04; 13.61±3.29 mm vs. 11.65±1.84 mm, p=0.01, respectively). Left and right Tei index and left E/e' ratio were higher in MDI than CSII subjects (0.82±0.40 vs. 0.52±0.19, p=0.002; 0.86±0.41 vs. 0.64±0.1, p=0.02; 5.89±2.0 vs. 4.73±1.59, p=0.02, respectively). Multiple regression analyses showed that glucose level, HbA1c and diabetes onset were significantly related to vascular and echocardiographic parameters in MDI and CSII patients. CONCLUSIONS: CSII regimen in T1DM adolescents improves glycemic control and seems to ameliorate endothelial function and global myocardial performance as compared to MDI therapy.
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Diabetes Mellitus Tipo 1 , Adolescente , Grosor Intima-Media Carotídeo , Niño , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hemoglobina Glucada/metabolismo , Humanos , Hipoglucemiantes , Inyecciones Subcutáneas , Insulina , Sistemas de Infusión de InsulinaRESUMEN
BACKGROUND: Filamin A (FLNA) is an intracellular actin-binding protein, encoded by the FLNA gene, with a wide tissue expression. It is involved in several cellular functions, and extracellular matrix structuring. FLNA gene alterations lead to diseases with a wide phenotypic spectrum, such as brain periventricular nodular heterotopia (PVNH), cardiovascular abnormalities, skeletal dysplasia, and lung involvement. CLINICAL FINDINGS: We present the case of a female infant who showed at birth aortic valve stenosis and PVNH, and subsequently developed interstitial lung disease with severe pulmonary hypertension. PRIMARY DIAGNOSIS: The association of aortic valve dysplasia, left ventricular outflow obstruction, persistent patent ductus arteriosus, and brain heterotopic gray matter suggested a possible FLNA gene alteration. A novel heterozygous intronic variant in the FLNA gene (NM_001110556.1), c.4304-1G >A, was detected. INTERVENTIONS: In consideration of valve morphology and severity of stenosis, the neonate was scheduled for a transcatheter aortic valvuloplasty. At 3 months of life, she developed hypoxemic respiratory failure with evidence of severe pulmonary hypertension. Inhaled nitric oxide (iNO) and milrinone on continuous infusion were started. Because of a partial response to iNO, an intravenous continuous infusion of sildenafil was introduced. OUTCOMES: In consideration of severe clinical course and fatal outcome, the new FLNA gene mutation described in our patient seems to be associated with a loss of function of FLNA. PRACTICE RECOMMENDATIONS: Lung and brain involvement, in association with left ventricular outflow obstruction and persistent patency of ductus arteriosus, should be considered highly suggestive of FLNA gene alterations, in a female newborn.
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Hipertensión Pulmonar , Heterotopia Nodular Periventricular , Obstrucción del Flujo Ventricular Externo , Encéfalo/diagnóstico por imagen , Femenino , Filaminas/genética , Humanos , Hipertensión Pulmonar/genética , Lactante , Recién Nacido , Pulmón/diagnóstico por imagen , Mutación , Heterotopia Nodular Periventricular/genéticaRESUMEN
Bone loss associated with type 1 diabetes mellitus (T1DM) begins at the onset of the disease, already in childhood, determining a lower bone mass peak and hence a greater risk of osteoporosis and fractures later in life. The mechanisms underlying diabetic bone fragility are not yet completely understood. Hyperglycemia and insulin deficiency can affect the bone cells functions, as well as the bone marrow fat, thus impairing the bone strength, geometry, and microarchitecture. Several factors, like insulin and growth hormone/insulin-like growth factor 1, can control bone marrow mesenchymal stem cell commitment, and the receptor activator of nuclear factor-κB ligand/osteoprotegerin and Wnt-b catenin pathways can impair bone turnover. Some myokines may have a key role in regulating metabolic control and improving bone mass in T1DM subjects. The aim of this review is to provide an overview of the current knowledge of the mechanisms underlying altered bone remodeling in children affected by T1DM.
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OBJECTIVES: To assess ductal size correlated to spontaneous closure, pharmacological or surgical treatment; to index ductal diameter to body weight and body surface area; to evaluate the morbidities. STUDY DESIGN: Retrospective study on preterms ≤32 weeks, birth weight ≤1500 g, extremely low birth weight (ELBW) and very low birth weight (VLBW). Inclusion criteria: patent ductus arteriosus (PDA) with a diameter ≥1 millimeter (mm) at 72 h from birth; need for ibuprofen treatment on the basis of a hemodynamically significant ductus arteriosus (HsPDA). RESULTS: One hundred infants with the diagnosis of PDA have been included. We observed a prevalence of spontaneous closure in 34% of newborns (41.3% VLBW versus 26.7% ELBW). The percentage of response to a single course of ibuprofen was of 62% (68.5% ELBW versus 54.3% VLBW). The mean of absolute ductal diameter was of 2.26 ± 0.62 mm in ELBW and 2.18 ± 0.42 mm in VLBW. The indexing of ductus size to body weight demonstrated a higher value in ELBW than VLBW (2.76 ± 0.97 mm/kg versus 1.84 ± 0.40 mm/kg). CONCLUSIONS: Our results confirmed that HsPDA can develop in presence of a ductus >1.5 mm as absolute value or >1.4 mm/kg as indexed to body weight. In ELBW infants the ductal size indexed for body weight and body surface area could be more predictive of spontaneous closure or need for pharmacological treatment compared to the absolute value of ductal size. A strong association between HsPDA and short- or long-term morbidities was confirmed particularly in ELBW.
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Conducto Arterioso Permeable , Recien Nacido Prematuro , Superficie Corporal , Conducto Arterioso Permeable/epidemiología , Humanos , Ibuprofeno , Recien Nacido con Peso al Nacer Extremadamente Bajo , Recién Nacido , Morbilidad , Estudios RetrospectivosRESUMEN
BACKGROUND: Preterm neonates are likely to require red blood cell (RBC) transfusion, and extremely low birth weight infants almost invariably receive multiple transfusions. Transfusion-reduction strategies can reduce transfusion rates, and might diminish certain adverse outcomes associated with transfusions. MATERIALS AND METHODS: In a single centre, we retrospectively evaluated RBC transfusion rates among preterm infants ≤32 weeks' gestational age (GA), over a 6-year period before and after adopting national transfusion-reduction strategies. We compared demographic data, adverse events, and outcomes between transfused vs not-transfused neonates. Univariate logistic regression was used to evaluate associations between dichotomous outcomes and number of transfusions, and day of first transfusion. Multivariate logistic regression evaluated the correlation between dichotomous outcomes and transfusion as an independent risk factor. RESULTS: During the 6 years studied, 181 infants born at ≤32 weeks' GA were admitted to our Neonatal Intensive Care Unit of whom 80 (44%) received at least one RBC transfusion. The transfusion rate tended downwards after adopting transfusion-reduction strategies, reaching 31% in 2018. The reduction was largely due to a marked fall in transfusions of neonates born at 29-32 weeks' GA (p<0.001). The number of transfusions received correlated with odds of having intraventricular haemorrhage (IVH) (OR=1.9; 95% CI: 1.3-2.7; p=0.0001) and the duration of oxygen supplementation (rho=0.51; 95% CI: 0.33-0.66; p≤0.0001). In multivariate logistic regression analysis, transfusion was an independent risk factor for IVH (adjusted OR=7.38; 95% CI: 2.24-24.30; p=0.0001). DISCUSSION: The application of national, standardised transfusion-reduction strategies was associated with a lower transfusion rate in neonates born at 29-32 weeks' GA, but was less effective among neonates ≤28 weeks, in whom transfusions appeared to be an independent risk factor for severe IVH.
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Transfusión de Eritrocitos , Nacimiento Prematuro/terapia , Transfusión de Eritrocitos/efectos adversos , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Masculino , Nacimiento Prematuro/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Resultado del TratamientoRESUMEN
PURPOSE: Short stature is a common clinical presentation, thus it is widely accepted that it is a polygenic trait. However, genome wide association and next generation sequencing studies have recently challenged this view, suggesting that many of the children classified as idiopathic short stature could instead have monogenic defects. Linear growth is determined primarily by chondrogenesis at the growth plate. This process results from chondrocyte proliferation, hypertrophy, and extracellular matrix secretion, and it is perfectly coordinated by complex networks of local paracrine and endocrine factors. Alterations in genes which control growth plate development can explain a large number of cases of isolated short stature, allowing an etiological diagnosis. METHODS/RESULTS: We reviewed recent data on the genetic alterations in fundamental cellular processes, paracrine signaling, and cartilage matrix formation associated with impaired growth plate chondrogenesis. In particular we focused on growth plate gene involvement in nonsyndromic short stature. CONCLUSIONS: The identification of genetic basis of growth failure will have a significant impact on the care of children affected with short stature.
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Estatura , Trastornos del Crecimiento , Estatura/genética , Niño , Estudio de Asociación del Genoma Completo , Trastornos del Crecimiento/genética , Placa de Crecimiento , Humanos , MutaciónRESUMEN
INTRODUCTION: Subjects affected with Turner Syndrome (TS) suffer low bone mineral density and high risk of fracture from a young age. Estrogen deficiency is considered the main risk factor but other factors, such as intrinsic bone abnormalities, enhanced osteoclastogenesis, vitamin D deficiency and other comorbidities may contribute to the exalted bone fragility. AREAS COVERED: The authors performed a literature search in PubMed and EMBASE, using selected key words. They focused their search on pathogenetic mechanisms of osteoporosis in TS and updated the diagnosis, prevention and therapeutic interventions. EXPERT OPINION: Bone health is a concern in subjects with TS, and strategies to prevent osteoporosis and fractures should be considered from childhood. Advice on how to live a healthy lifestyle, including physical activity and correct nutrition, should be given during childhood in order to prevent bone impairment later in life. The screening for vitamin D deficiency should be performed between the ages of 9 and 11, and every 2-3 years thereafter. Early initiation of estrogen replacement therapy (ERT) between 11-12 years of age, prompt titration to the adult dose after 2 years, and long-term follow-up to guarantee compliance with ERT, are the key points of osteoporosis prevention in women with TS.
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Terapia de Reemplazo de Hormonas , Osteoporosis/etiología , Osteoporosis/prevención & control , Síndrome de Turner/complicaciones , Deficiencia de Vitamina D/complicaciones , Densidad Ósea , Huesos/anomalías , Enfermedad Celíaca/complicaciones , Femenino , Fracturas Óseas/etiología , Fracturas Óseas/prevención & control , Humanos , Enfermedades Inflamatorias del Intestino/complicaciones , Menopausia Prematura , Insuficiencia Ovárica Primaria/complicaciones , Síndrome de Turner/diagnóstico , Síndrome de Turner/tratamiento farmacológico , Deficiencia de Vitamina D/tratamiento farmacológicoRESUMEN
Obesity may affect bone health, but literature reports are contradictory about the correlation of body mass index (BMI) and bone markers. LIGHT, one of the immunostimulatory cytokines regulating the homeostasis of bone and adipose tissue, could be involved in obesity. The study involved 111 obese subjects (12.21 ± 3.71 years) and 45 controls. Patients underwent the evaluation of bone status by quantitative ultrasonography (QUS). LIGHT amounts were evaluated in sera by ELISA, whereas its expression on peripheral blood cells was evaluated by flow cytometry. Osteoclastogenesis was performed by culturing peripheral blood mononuclear cells (PBMCs) with or without anti-LIGHT antibodies. Obese patients showed significant high BMI-standard deviation score (SDS), weight-SDS, and Homeostatic model assessment for insulin resistance (HOMA-IR) that negatively correlated with the reduced Amplitude Dependent Speed of Sound (AD-SoS)-Z-score and Bone Transmission Time (BTT-Z)-score. They displayed significantly higher serum levels of LIGHT compared with controls (497.30 ± 363.45 pg/mL vs. 186.06 ± 101.41 pg/mL, p < 0.001). LIGHT expression on monocytes, CD3+-T-cells, and neutrophils was also higher in obese patients than in the controls. Finally, in PBMC cultures, the addition of anti-LIGHT antibodies induced a significant osteoclastogenesis inhibition. Our study highlighted the high serum levels of LIGHT in obese children and adolescents, and its relationship with both the grade of obesity and bone impairment.
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Obesidad Infantil/sangre , Miembro 14 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral/sangre , Adolescente , Biomarcadores/sangre , Índice de Masa Corporal , Densidad Ósea/fisiología , Remodelación Ósea/fisiología , Estudios de Casos y Controles , Niño , Femenino , Humanos , Resistencia a la Insulina/fisiología , Leucocitos Mononucleares/metabolismo , Modelos Lineales , Masculino , Osteogénesis/fisiología , Obesidad Infantil/diagnóstico por imagen , Obesidad Infantil/fisiopatología , Miembro 14 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral/fisiologíaRESUMEN
BACKGROUND: The frequency of childhood obesity has increased over the last 3 decades, and the trend constitutes a worrisome epidemic worldwide. With the raising obesity risk, key aspects to consider are accurate body mass index classification, as well as metabolic and cardiovascular, and hepatic consequences. DATA SOURCES: The authors performed a systematic literature search in PubMed and EMBASE, using selected key words (obesity, childhood, cardiovascular, liver health). In particular, they focused their search on papers evaluating the impact of obesity on cardiovascular and liver health. RESULTS: We evaluated the current literature dealing with the impact of excessive body fat accumulation in childhood and across adulthood, as a predisposing factor to cardiovascular and hepatic alterations. We also evaluated the impact of physical and dietary behaviors starting from childhood on cardio-metabolic consequences. CONCLUSIONS: The epidemic of obesity and obesity-related comorbidities worldwide raises concerns about the impact of early abnormalities during childhood and adolescence. Two key abnormalities in this context include cardiovascular diseases, and nonalcoholic fatty liver disease. Appropriate metabolic screenings and associated comorbidities should start as early as possible in obese children and adolescents. Nevertheless, improving dietary intake and increasing physical activity performance are to date the best therapeutic tools in children to weaken the onset of obesity, cardiovascular diseases, and diabetes risk during adulthood.
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Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Hepatopatías/epidemiología , Hepatopatías/etiología , Obesidad Infantil/complicaciones , Obesidad Infantil/epidemiología , Factores de Edad , Niño , Salud Global , HumanosRESUMEN
Sweet cherry (Prunus avium L.) is one of the most popular and appreciated temperate fruit not only for its sensory and nutritional properties, but also for its content in bioactive compounds. Consumption of sweet cherries brings beneficial effects on to health, which include prevention and modulatory effects in several chronic diseases such as (diabetes mellitus, cancer, cardiovascular and other inflammatory diseases). The presence of natural polyphenolic compounds with high antioxidant potential might drive and partly explain such beneficial effects, but more translational and clinical studies should address this topic. Here, we review the health-promoting properties of cherries and their bioactive compounds against human diseases.
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BACKGROUND: The application of noninvasive ventilation (NIV) modalities from birth in the delivery room (DR) during fetal-neonatal transition reduces the need for invasive mechanical ventilation, mortality, and bronchopulmonary dysplasia (BPD). The use of a RAM nasal cannula (RAM NC) in the DR for resuscitation results in less need for intubation, chest compressions, and epinephrine administration when compared with using a face mask for PPV in the DR. OBJECTIVE: To evaluate the need for endotracheal intubation in the DR among extremely low gestational age neonates treated at birth with sustained inflation (SI) followed by a nasal continuous positive airway pressure (NCPAP) (range: 6-8 cm of H2O) delivered through the RAM NC. STUDY DESIGN: A retrospective study was conducted to compare the use of NIV techniques in the DR and the need for intubation in the DR in premature infants 23 to 28 weeks' gestational age from December 2016 to July 2018 (group A). These data were compared with those of premature inborn infants with similar GA born between April 2015 and November 2016 (group B). In the DR, immediately after birth, neonates in group A received SI through RAM NC followed by CPAP ranging from 6 to 8 cm H2O, whereas the neonates in group B were treated in the DR with SI administered through a face mask followed by the application of CPAP of 5 cm H2O delivered through a nasopharyngeal tube. RESULTS: A total of 65 preterm infants 23 to 28 weeks of gestational age, 31 in group A and 34 in group B, were included in the study. The percentage of neonates intubated in the DR was significantly lower in group A (p < 0.008). In both groups, no neonates died in the DR, and no one required epinephrine and/or chest compressions. For those neonates who did not require intubation in the DR, there was no significant difference in the average FiO2 on arrival in the neonatal intensive care unit, rate of intubation within 24 hours, and use of surfactant. The incidence of BPD was similar in the two groups. Only one infant in group A developed moderate BPD, and no one needed oxygen and/or ventilatory assistance at discharge. Mortality was similar in the two groups, with a slight prevalence in group B (27.7 vs. 19.2%). CONCLUSION: SI with RAM NC followed by NCPAP ranging from 6 to 8 cm H2O, administered with RAM NC resulted in a significant reduction of intubation in the DR.