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AIM: To systematically assess the impact of commercially available hybrid closed loop (HCL) systems on psychological outcomes in youths with type 1 diabetes and their parents. METHODS: We performed a systematic review including studies published in the last 10 years. PICOS framework was used in the selection process, and evidence was assessed using the GRADE system. RESULTS: A total of 215 studies were identified after duplicate removal, and 31 studies were included in this systematic review: 20 on first-generation HCL and 11 on second-generation HCL systems. According to studies with moderate- to high-level quality of evidence, HCL systems led to better, or in some studies, unchanged psychological outcomes such as distress and burden related to diabetes management, fear of hypoglycemia, quality of life, satisfaction; instead, quality of sleep was perceived as improved, although results were not confirmed in studies using actigraphy. From semi-structured interviews, answers were more homogeneous, and participants reported a positive experience and attitude towards HCL technology, which was felt to be easy to use and apt to achieve glycemic targets. CONCLUSIONS: Evidence confirms the importance of evaluating the psychosocial needs of youths with diabetes and their families when starting HCL systems and during follow-up, and to set realistic expectations of what can be achieved along with awareness of the limitations of the systems, and educate and motivate families to overcome barriers.
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Diabetes Mellitus Tipo 1 , Humanos , Adolescente , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/psicología , Hipoglucemiantes/uso terapéutico , Calidad de Vida , Glucemia , Insulina/uso terapéutico , Sistemas de Infusión de Insulina , Padres/psicología , Automonitorización de la Glucosa Sanguínea/métodosRESUMEN
BACKGROUND: Given that the widely acknowledged influence of the doctor-patient relationship on objective health parameters and treatment adherence in chronic illnesses, this study sought to explore how patients perceived the patient-doctor relationship across virtual and in-person contexts. METHODS: Parents' and patients' perceptions of doctor-patient relationship were evaluated in 610 children and adolescents (12.17 ± 4.19 years, 50.9% girls) with type 1 diabetes who visited via video-conferencing or in person during the COVID-19 pandemic. RESULTS: No differences were found between video consultations and in-person visits in terms of care satisfaction (p > .05), doctor-patient relationship-for the dimensions agreement on tasks (p = .506) and bond (p = .828)-as perceived by parents and physician empathy as perceived by patients (p = .096). Parents rated patient-doctor agreement on explicit goals of treatment higher in video consultation than in person (p = .009, d = .211). Agreement on goals (ß = - .180, p = .016) and bond with doctor (ß = - .160, p = .034) were negatively and significantly associated with HbA1c values, but only in participants who visited in person. CONCLUSIONS: Parents' care satisfaction and perceptions of doctor-patient relationship, along with patients' perceptions of physician empathy, did not substantially differ between visits carried out in person or via video consultations. Given the high risk of psychological problems described in young people with diabetes, video consultation can be considered a useful opportunity to maintain access to a healthcare provider in a challenging time, such as the COVID-19 pandemic.
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COVID-19 , Diabetes Mellitus Tipo 1 , Adolescente , Niño , Femenino , Hemoglobina Glucada , Humanos , Masculino , Pandemias , Padres , Satisfacción del Paciente , Relaciones Médico-Paciente , Derivación y ConsultaRESUMEN
AIM: To evaluate the impact of a virtual educational camp (vEC) on glucose control in children and adolescents with type 1 diabetes using a closed-loop control (CLC) system. MATERIALS AND METHODS: This was a prospective multicentre study of children and adolescents with type 1 diabetes using the Tandem Basal-IQ system. Insulin pumps were upgraded to Control-IQ, and children and their parents participated in a 3-day multidisciplinary vEC. Clinical data, glucose metrics and HbA1c were evaluated over the 12 weeks prior to the Control-IQ update and over the 12 weeks after the vEC. RESULTS: Forty-three children and adolescents (aged 7-16 years) with type 1 diabetes and their families participated in the vEC. The median percentage of time in target range (70-180 mg/dL; TIR) increased from 64% (interquartile range [IQR] 56%-73%) with Basal-IQ to 76% (IQR 71%-81%) with Control-IQ (P < .001). After the vEC, more than 75% of participants achieved a TIR of more than 70%. The percentage of time between 180 and 250 mg/dL and above 250 mg/dL decreased by 5% (P < .01) and 6% (P < .01), respectively, while the time between 70 and 54 mg/dL and below 54 mg/dL remained low and unaltered. HbA1c decreased by 0.5% (P < .01). There were no episodes of diabetic ketoacidosis or severe hypoglycaemia. CONCLUSIONS: In this study of children managing their diabetes in a real-world setting, more than 75% of children who participated in a vEC after starting a CLC system could obtain and maintain a TIR of more than 70%. The vEC was feasible and resulted in a significant and persistent improvement in TIR in children and adolescents with type 1 diabetes.
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Diabetes Mellitus Tipo 1 , Adolescente , Glucemia , Automonitorización de la Glucosa Sanguínea , Niño , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Humanos , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Sistemas de Infusión de Insulina , Estudios ProspectivosRESUMEN
"Blueberry muffin baby" is an expression applied to newborns displaying a generalized purpuric rash caused by dermal erythropoiesis. This presentation is typically associated with TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpesvirus) complex infections. However, alternative diagnoses should be considered, including other infections, neoplastic diseases, congenital vascular lesions, and metabolic diseases. We report a case of perinatal-lethal-type Gaucher disease presenting with cholestasis, hepatosplenomegaly, persistent thrombocytopenia, and blueberry muffin-like skin lesions.
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Exantema , Enfermedad de Gaucher , Púrpura , Enfermedades de la Piel , Femenino , Enfermedad de Gaucher/complicaciones , Enfermedad de Gaucher/diagnóstico , Humanos , Recién Nacido , Embarazo , SíndromeRESUMEN
INTRODUCTION: Celiac disease (CD) is among the diseases most commonly associated with type 1 diabetes (T1D). This study aimed to evaluate the worldwide practices and attitudes of physicians involved in pediatric diabetes care regarding diagnosing and managing CD in children with T1D. METHODS: The 30-item survey was conducted between July and December 2023 aimed at targeting pediatricians with special interest in T1D and CD. It was shared by the JENIOUS - young investigators group of the International Society of Pediatric and Adolescent Diabetes (ISPAD) - and the YES - early career group of the European Society for Pediatric Endocrinology (ESPE). RESULTS: Overall, 180 physicians (67.8% female) from 25 countries responded. Among respondents, 62.2% expected sustaining optimal glycemic control in children with T1D and CD (T1D + CD) to be more difficult than in children with T1D alone. Majority (81.1%) agreed that more specific guidelines are needed. The follow-up routine for patients with T1D + CD differed, and one-quarter of physicians scheduled more frequent follow-up checkups for these patients. Seventy percent agreed multidisciplinary outpatient clinics for their follow-up is needed. In the multivariate ordinal logistic regression model, a statistically significant predictor of a higher degree of practice according to ISPAD 2022 guidelines was a higher level of country income (OR = 3.34; p < 0.001). CONCLUSIONS: These results showed variations in physicians' practices regarding managing CD in children with T1D, emphasizing the need for more specific guidelines and intensive education of physicians in managing this population, especially in lower-income countries. Our data also suggest the implementation of multidisciplinary outpatient clinics for their follow-up.
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In people with type 1 diabetes, Automated Insulin Delivery (AID) systems adjust insulin delivery in response to sensor glucose data and consist of three components: an insulin pump, a continuous glucose sensor, and an algorithm that determines insulin delivery. To date, all the available AID systems require users to announce carbohydrate intake and deliver meal boluses, as well as respond to system alarms. The use of AID devices both initially and over time may be influenced by a variety of psychological factors. Analysis of patient-related outcomes should be taken into account, while recruiting applicants for the systems who are motivated and have realistic expectations in order to prevent AID dropout. We report an up-to-date summary of the available measures and semi-structured interview content to assess AID expectations, acceptance, and satisfaction using the AID systems. In conclusion, we suggest, before and after starting using AID systems, performing a specific evaluation of the related psychological implications, using validated measures and semi-structured interviews, that allows diabetes care providers to tailor their education approach to the factors that concern the patient at that time; they can teach problem-solving skills and other behavioral strategies to support sustained use of the AID system.
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BACKGROUND: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations. CASES PRESENTATION: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed. CONCLUSIONS: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease.
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Anemia Megaloblástica , Sordera , Diabetes Mellitus , Pérdida Auditiva Sensorineural , Humanos , Niño , Adulto , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/tratamiento farmacológico , Diabetes Mellitus/genética , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/tratamiento farmacológico , Pérdida Auditiva Sensorineural/genética , Tiamina/uso terapéutico , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/tratamiento farmacológico , Diagnóstico Precoz , Sordera/complicaciones , Sordera/tratamiento farmacológicoRESUMEN
AIMS: To evaluate the impact of gluten free diet (GFD) on growth, metabolic control and quality of life in children and adolescents with type 1 diabetes (T1D) and celiac disease (CD). METHODS: A systematic search was performed including studies published in the last 15 years. PICOS framework was used in the selection process and evidence was assessed using the GRADE system. RESULTS: Overall, studies comparing youth with T1D + CD on GFD to those with T1D only, showed no significant differences in growth parameters, HbA1c, number of episodes of hypoglycemia, total daily insulin doses. Studies assessing the effect of GFD introduction showed stable BMI and HbA1c. Only two studies assessed QoL of life, which was not different between T1D + CD vs T1D only youth, as well as pre- and post-CD diagnosis and introduction of GFD. CONCLUSION: This systematic review, including only studies of moderate-high evidence quality level and reporting data on objectively assessed adherence to GFD, highlights that adherence to GFD in youth with T1D + CD leads to regular growth, stable BMI, without any negative effect on HbA1c and insulin requirements. Although assessed in few studies, lipid profile and QoL improved with the introduction of GFD.
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Enfermedad Celíaca , Diabetes Mellitus Tipo 1 , Adolescente , Niño , Dieta Sin Gluten , Hemoglobina Glucada , Humanos , Insulina , Insulina Regular Humana , Lípidos , Cooperación del Paciente , Calidad de VidaRESUMEN
BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations. Since Wolfram and Wagener first described WS in 1938, new phenotypic/genotypic variants of the syndrome have been observed and the clinical picture has been significantly enriched. To date, two main subtypes of WS that associated with two different mutations are known: WS type 1 (WS1), caused by the mutation of the wolframine gene (WS1; 606201), and WS type 2 (WS2), caused by the mutation of the CISD2 gene (WS2; 604928). METHODS: A systematic review of the literature was describe the phenotypic characteristics of WS2 in order to highlight the key elements that differentiate it from the classic form. CONCLUSION: WS2 is the rarest and most recently identified subtype of WS; its clinical picture is partially overlapping with that of WS1, from which it traditionally differs by the absence of diabetes insipidus and the presence of greater bleeding tendency and peptic ulcers.
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Diabetes Mellitus Tipo 2 , Enfermedades Mitocondriales , Atrofia Óptica , Síndrome de Wolfram , Diabetes Mellitus Tipo 2/complicaciones , Humanos , Proteínas de la Membrana/genética , Enfermedades Mitocondriales/complicaciones , Enfermedades Mitocondriales/genética , Mutación , Atrofia Óptica/complicaciones , Atrofia Óptica/diagnóstico , Atrofia Óptica/genética , Síndrome de Wolfram/diagnóstico , Síndrome de Wolfram/genéticaRESUMEN
The aim of this systematic review was to report the evidence on optimal prandial timing of insulin bolus in youths with type 1 diabetes. A systematic search was performed including studies published in the last 20 years (2002-2022). A PICOS framework was used in the selection process and evidence was assessed using the GRADE system. Up to one third of children and adolescents with type 1 diabetes injected rapid-acting insulin analogues after a meal. Moderate-high level quality studies showed that a pre-meal bolus compared with a bolus given at the start or after the meal was associated with a lower peak blood glucose after one to two hours, particularly after breakfast, as well as with reduced HbA1c, without any difference in the frequency of hypoglycemia. There were no differences related to the timing of bolus in total daily insulin and BMI, although these results were based on a single study. Data on individuals' treatment satisfaction were limited but did not show any effect of timing of bolus on quality of life. In addition, post-prandial administration of fast-acting analogues was superior to rapid-acting analogues on post-prandial glycemia. There was no evidence for any difference in outcomes related to the timing of insulin bolus across age groups in the two studies. In conclusion, prandial insulin injected before a meal, particularly at breakfast, provides better post-prandial glycemia and HbA1c without increasing the risk of hypoglycemia, and without affecting total daily insulin dose and BMI. For young children who often have variable eating behaviors, fast-acting analogues administered at mealtime or post-meal could provide an additional advantage.
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BACKGROUND: To date, no consistent data are available on the possible impact of CFTR modulators on glucose metabolism. The aim of this study was to test the hypothesis that treatment with CFTR modulators is associated with an improvement in the key direct determinants of glucose regulation in children and young adults affected by Cystic Fibrosis (CF). METHODS: In this study, 21 CF patients aged 10-25 underwent oral glucose tolerance test (OGTT) before and after 12-18 months of treatment with Lumacaftor/Ivacaftor or Elexacaftor-Ivacaftor-Tezacaftor. ß-cell function (i.e., first and second phase of insulin secretion measured as derivative and proportional control, respectively) and insulin clearance were estimated by OGTT mathematical modelling. Insulin sensitivity was estimated by the Oral Glucose Sensitivity Index (OGIS). The dynamic interplay between ß-cell function, insulin clearance and insulin sensitivity was analysed by vector plots of glucose-stimulated insulin bioavailability vs. insulin sensitivity. RESULTS: No changes in glucose tolerance occurred after either treatment, whereas a significant improvement in pulmonary function and chronic bacterial infection was observed. Beta cell function and insulin clearance did not change in both treatment groups. Insulin sensitivity worsened in the Lumacaftor/Ivacaftor group. The analysis of vector plots confirmed that glucose regulation was stable in both groups. CONCLUSIONS: Treatment of CF patients with CFTR modulators does not significantly ameliorate glucose homeostasis and/or any of its direct determinants.
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AIMS: We aimed to estimate the prevalence of Diabetic peripheral neuropathy (DPN) and Cardiac autonomic neuropathy (CAN) in youth with type 1 diabetes; identify key risk factors; identify the most useful tests for the diagnostic evaluation of DPN and CAN; identify key treatment options for DPN and CAN. METHODS: A systematic search was performed including studies published in the last 15 years. PICO framework was used in the selection process and evidence was assessed using the GRADE system. RESULTS: A total of 758 studies were identified and a final number of 49 studies were included in this systematic review. According to moderate-high level quality studies, the prevalence of probable DPN, ranged between 13.5 and 62%; subclinical DPN between 22 and 88%; confirmed DPN between 2.6 and 11%. The Michigan Neuropathy Screening Instrument was the tool with higher sensitivity and specificity for detecting DPN, which needs to be confirmed by nerve conduction velocity. The prevalence of CAN was 4-39%. Specific treatment options for DPN or CAN in patients younger than 25 years are not available. Key risk factors for DPN and CAN are hyperglycemia/HbA1c, age, diabetes duration, the presence of other microvascular complications, waist/height ratio, lipid profile and blood pressure. For CAN, additional risk factors were cigarette smoking, BMI and total daily insulin. CONCLUSIONS: Prevalence of neuropathy in youth with type 1 diabetes varies depending on different screening methods and characteristics of the study populations. However, the assessed studies confirmed a relatively high prevalence of subclinical neuropathy, reiterating the importance of early identification of risk factors to prevent this complication.
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Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Neuropatías Diabéticas , Adolescente , Niño , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 2/complicaciones , Neuropatías Diabéticas/diagnóstico , Neuropatías Diabéticas/epidemiología , Neuropatías Diabéticas/etiología , Humanos , Prevalencia , Factores de Riesgo , Adulto JovenRESUMEN
The aim of this study was to investigate the association between uric acid (UA) and cardiometabolic risk factors (CMRFs) by sex in youth with type 1 diabetes (T1D). Retrospective data collected from 1323 children and adolescents (5-18 years; 716 boys) with T1D recruited in 9 Italian Pediatric Diabetes Centers were analyzed. CMRFs included UA, HbA1c, blood pressure (BP), cholesterol (TC), HDL, triglycerides (TG), neutrophils (N) and lymphocytes (L) count, glomerular filtration rate (eGFR) (calculated using Schwartz-Lyon equation). In boys, we found a higher age, daily insulin dose, TG, TG/HDL ratio, TC/HDL ratio, systolic BP, N/L ratio and lower HDL, and eGFR across UA tertiles (p = 0.01-0.0001). Similar results were found in girls but not for TG and systolic BP. In boys, the odds ratio (OR) of high levels of TG/HDL ratio, TC/HDL ratio, BP and mildly reduced eGFR (MRGFR) increased for 0.5 mg/dL of UA. Instead, in girls an increased levels of 0.5 mg/dL of UA were associated with high OR of TC/HDL ratio, N/L ratio and MRGFR. Uric acid may represent a useful marker for identifying youth with T1D at high cardiometabolic risk, and this association appears to vary by sex.
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Enfermedades Cardiovasculares , Diabetes Mellitus Tipo 1 , Adolescente , Presión Sanguínea , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Niño , HDL-Colesterol , Diabetes Mellitus Tipo 1/complicaciones , Femenino , Humanos , Masculino , Estudios Retrospectivos , Factores de Riesgo , Triglicéridos , Ácido ÚricoRESUMEN
Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population and is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that encodes for a chloride/bicarbonate channel expressed on the membrane of epithelial cells of the airways and of the intestine, as well as in cells with exocrine and endocrine functions. A common nonpulmonary complication of CF is cystic fibrosis-related diabetes (CFRD), a distinct form of diabetes due to insulin insufficiency or malfunction secondary to destruction/derangement of pancreatic betacells, as well as to other factors that affect their function. The prevalence of CFRD increases with age, and 40-50% of CF adults develop the disease. Several proposed hypotheses on how CFRD develops have emerged, including exocrine-driven fibrosis and destruction of the entire pancreas, as well as contrasting theories on the direct or indirect impact of CFTR mutation on islet function. Among contributors to the development of CFRD, in addition to CFTR genotype, there are other genetic factors related and not related to type 2 diabetes. This review presents an overview of the current understanding on genetic factors associated with glucose metabolism abnormalities in CF.
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Wolfram syndrome (WFS) is a rare autosomal recessive neurodegenerative disease whose diagnosis requires diabetes mellitus and optic atrophy (OA). WFS includes a wide spectrum of other possible complications such as diabetes insipidus, sensorineural deafness, urinary tract problems, neurological and psychiatric disorders. Most WFS patients show type 1 syndrome (WFS1) caused by mutations in the WFS1 gene, encoding Wolframin protein, while few patients are affected by WFS type 2 (WFS2) due to a pathogenetic variants in the CISD2 gene encoding an endoplasmic reticulum intermembrane small protein. WFS2 is considered a phenotypic and genotypic variant of WFS, from which differs only for the increased risk of bleeding and presence of peptic ulcers. OA and diabetes are considered cardinal features of WFS. We hereby report the ophthalmologic evaluation in a patient, previously described, with WFS2 after 8 years of follow-up. A 20-year-old white woman was referred to our retinal center for the first time in 2012 following a diagnosis of a novel intragenic exon 2 CISD2 homozygous deletion, for the suspicion of an associated bilateral OA. Fundus examination, spectral-domain optical coherence tomography, visual field, visual evoked potentials were performed and confirmed the presence of an optic neuropathy that remained stable over 8 years follow up. A slowly progressive optic neuropathy, rather than OA can characterize patients with WFS2 and CISD2 intragenic deletion.
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BACKGROUND: Cystic Fibrosis Related Diabetes (CFRD) is a frequent comorbidity of patients with Cystic Fibrosis (CF). A worsening of clinical conditions appears before CFRD. It has been demonstrated a decline in pulmonary function and nutritional status also in patients with prediabetes. Few trials show that insulin may be beneficial in prediabetic CF patients, to date guidelines do not recommend for this condition. CASE PRESENTATION: We report a case of a patient treated with insulin glargine at 13 years, due to glycemic intolerance, and with Lumacaftor/Ivacaftor at 15 years. A reduction of pulmonary exacerbations was observed after glargine therapy, also confirmed after the starting of Lumacaftor/ Ivacaftor in this patient. Pulmonary function improved only after the first year of glargine therapy, then a deterioration appeared due to the natural history of CF lung damage. During the COVID-19 lockdown, poor adherence to care contributed to diabetes mellitus onset needing high insulin requirements. After two weeks the patient returned to prediabetic condition and his previous dose of glargine. CONCLUSIONS: our case highlights firstly that insulin glargine has contributed to preserve him from further clinical worsening due to prediabetes in the years before pandemic, secondly the negative impact of COVID-19 lockdown on the clinical course of a chronic disease as CF.
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COVID-19/epidemiología , Fibrosis Quística/complicaciones , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hipoglucemiantes/uso terapéutico , Insulina Glargina/uso terapéutico , Adolescente , Fibrosis Quística/fisiopatología , Humanos , Masculino , Pandemias , Estado Prediabético , Pruebas de Función Respiratoria , SARS-CoV-2RESUMEN
Hypoglycemia is the result of defects/impairment in glucose homeostasis. The main etiological causes are metabolic and/or endocrine and/or other congenital disorders. Despite hypoglycemia is one of the most common emergencies in neonatal age and childhood, no consensus on the definition and diagnostic work-up exists yet. Aims of this review are to present the current age-related definitions of hypoglycemia in neonatal-pediatric age, to offer a concise and practical overview of its main causes and management and to discuss the current diagnostic-therapeutic approaches. Since a systematic and prompt approach to diagnosis and therapy is essential to prevent hypoglycemic brain injury and long-term neurological complications in children, a comprehensive diagnostic flowchart is also proposed.
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Hipoglucemia/diagnóstico , Niño , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Hipoglucemia/sangre , Hipoglucemia/etiología , Hipoglucemia/terapiaRESUMEN
Diagnosis of systemic cat scratch disease may be challenging. Here, we describe a case of an immunocompetent girl exhibiting fever and multifocal hepatosplenic abscesses. Diagnostic tests for Bartonella henselae infection (enzyme immunoassay and polymerase chain reaction) were found steadily negative and the diagnosis, suspected on the basis of the Margilet's criteria, was finally confirmed by indirect immunofluorescent antibodies.
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Bartonella henselae/inmunología , Enfermedad por Rasguño de Gato/diagnóstico , Adolescente , Antibacterianos/administración & dosificación , Antibacterianos/uso terapéutico , Azitromicina/administración & dosificación , Azitromicina/uso terapéutico , Bartonella henselae/aislamiento & purificación , Enfermedad por Rasguño de Gato/sangre , Enfermedad por Rasguño de Gato/tratamiento farmacológico , Doxiciclina/administración & dosificación , Doxiciclina/uso terapéutico , Quimioterapia Combinada , Femenino , Fiebre/diagnóstico , Técnica del Anticuerpo Fluorescente/métodos , Humanos , Pruebas SerológicasRESUMEN
BACKGROUND: Congenital Hyperinsulinism typically occurs with a neonatal hypoglycemia but can appear even in childhood or in adolescence with different types of glucose metabolism derangements. Current diagnostic algorithms don't take into account cases with a late presentation. PATIENTS AND METHODS: Clinical and laboratory data of twenty-two subjects diagnosed at Federico II University of Naples have been described: patients have been divided according to the molecular defect into channel defects, metabolic defects and unidentified molecular defects. A particular focus has been made on three cases with a late presentation. RESULTS AND CONCLUSIONS: Late presentation cases may not be identified by previous diagnostic algorithms. Consequently, it seems appropriate to design a new flow-chart starting from the age of presentation, also considering that late presentation cases can show glucose metabolism derangements other than hypoglycaemic crises such as diabetes, glucose intolerance, postprandial hypoglycaemia and gestational diabetes.
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Hiperinsulinismo Congénito/diagnóstico , Adolescente , Factores de Edad , Algoritmos , Niño , Estudios de Cohortes , Hiperinsulinismo Congénito/complicaciones , Hiperinsulinismo Congénito/genética , Femenino , Humanos , Italia , MasculinoRESUMEN
AIMS: To analyze the factors associated with non-albuminuric reduced estimated glomerular filtration rate (NAeGFR-) phenotype in young people with type 1 diabetes (T1DM). METHODS: In this cross-sectional study were enrolled 140 outpatient diabetic children (age 7-18â¯years), consecutively observed in the period 2016-2017. Eighteen subjects with microalbuminuria (defined as albumin excretion rateâ¯≥â¯30â¯mg/24â¯h) were excluded. Fasting HbA1c, uric acid (UA), neutrophils and lymphocytes count were recorded. Estimated glomerular filtration rate (eGFR) was calculated using the Schwartz's bed-side formula and reduced eGFR was defined by a value <90â¯mL/min/1.73â¯m2. RESULTS: Out of 122 subjects analyzed, 76 (62%) showed normal eGFR and 46 (38%) showed NAeGFR- phenotype. They were characterized by higher prevalence of male sex (57% vs 33%, pâ¯=â¯0.010), autoimmune diseases (26% vs 12%, pâ¯=â¯0.043), high UA levels (4.0⯱â¯0.9 vs 3.3⯱â¯0.9â¯mg/dl, pâ¯<â¯0.0001) and high Neutrophils/Lymphocytes ratio (1.5 [1.2-2.0] vs 1.3 [1.0-1.8], pâ¯=â¯0.023). CONCLUSIONS: In our population, the prevalence on NAeGFR- phenotype is 38% and it is associated with male sex, high levels of UA, presence of other autoimmune diseases and low-grade inflammation. It should encourage pediatricians to monitor early both eGFR and UA in order to intercept diabetic youth more likely prone to develop progressive renal impairment.