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1.
J Mother Child ; 28(1): 8-13, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38438129

RESUMO

BACKGROUND: The nutritional practice for newborns with hypoxic-ischaemic encephalopathy during therapeutic hypothermia differs among Polish neonatal care units, as no guidelines are provided. We assessed the prevailing procedures. MATERIAL AND METHODS: Data was collected through an anonymous, web-based questionnaire. We surveyed aspects of the current nutritional practices and the reasoning behind the choice of the feeding strategy. RESULTS: Thirty-one responses were obtained (31/33, 94%). Based on participants' estimations, 342 newborns are diagnosed with hypoxic-ischaemic encephalopathy and qualified for therapeutic hypothermia annually. Among them, almost ⅓ is fed exclusively parenterally, while 71% both ways-parenterally and enterally. In the vast majority of units, the introduction of enteral nutrition takes place during the first 48 hours of therapeutic hypothermia, and breast milk is primarily provided, although with substantial first feeding volume differentiation (an average of 2,9 ml/kg (0,3 - 10ml/kg)). Adverse events, such as necrotising enterocolitis, sepsis, and glycemia level disturbances that derive from the initiation of enteral nutrition, are difficult to estimate as no official statistics are provided. CONCLUSIONS: The majority of newborns after hypoxic-ischaemic encephalopathy treated with therapeutic hypothermia are fed both parenterally and enterally during the procedure, predominantly with expressed or donor breast milk. However, due to the lack of nutritional guidelines, significant variability of nutritional strategies concerning initiation time, type and volume of enteral feeds given is noted. Therefore, further studies are required to clarify feeding recommendations.


Assuntos
Hipotermia Induzida , Hipóxia-Isquemia Encefálica , Feminino , Humanos , Recém-Nascido , Hipóxia-Isquemia Encefálica/etiologia , Hipóxia-Isquemia Encefálica/terapia , Polônia , Estado Nutricional , Hipotermia Induzida/efeitos adversos , Leite Humano
2.
Eur J Pediatr ; 183(6): 2683-2692, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38517518

RESUMO

The purpose of the study was to assess and compare short- and long-term cardiac complications of the multisystem inflammatory syndrome in children (MIS-C) by predominant severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants throughout the pandemic. The analysis of prospectively collected data comparing cardiac complications of MIS-C during and after hospitalization across the original/alpha, delta, and omicron waves. Cardiac complications were defined as cardiac failure with systolic function impairment or hypotension or abnormalities in echocardiographic findings (decrease in LVEF, FS, valvular insufficiency, pericardial effusion, or coronary artery abnormalities). A total of 120 patients with MIS-C admitted to the Children's Hospital of Krakow between November 1, 2020, and May 5, 2023, were included in the study (74 during original/alpha dominance, 31 delta, and 15 omicron). Patients in the omicron group were found to be younger than those in the alpha and delta groups (37 vs. 75 vs. 80 months, p = 0.03). The frequency of cardiac failure with systolic function impairment or hypotension was diagnosed more frequently in the original/alpha and delta groups than in the omicron group (44.59% vs. 41.94% vs. 13.33%, p = 0.08) also echocardiographic abnormalities changed, with rates of 60.8%, 35.5%, and 13.3% (p < 0.001) accordingly. The multivariable regression revealed an older age (OR = 1.19, 95% CI = 1.07-1.33, p = 0.002) as the only independent factors of cardiac failure with systolic function impairment or hypotension. In all patients, signs of cardiac failure resolved during the hospitalization. Moreover, in 98.3% of patients, all echocardiagraphic abnormalities resolved completely during the observation period.    Conclusion: The cardiac complications of MIS-C appeared to advance less severely in younger children during the Omicron outbreak. In long-term observation, symptoms of cardiac failure resolve completely. Similarly, also echocardiographic abnormalities normalize in the vast majority of patients. What is Known: • Knowledge about the long-term cardiac complications of MIS-C is still evolving and uncertain. • The greatest concern of MIS-C is cardiac complications, including cardiac failure and coronary artery dilatation. What is New: • Long-term observations revealed complete resolution of cardiac complications in the vast majority of patients with MIS-C, irrespective of the dominant variant. • Cardiac complications of MIS-C were less common in younger children during subsequent pandemic waves in our patient population.


Assuntos
COVID-19 , Síndrome de Resposta Inflamatória Sistêmica , Humanos , COVID-19/complicações , COVID-19/epidemiologia , Síndrome de Resposta Inflamatória Sistêmica/epidemiologia , Síndrome de Resposta Inflamatória Sistêmica/diagnóstico , Masculino , Feminino , Pré-Escolar , Criança , Lactente , SARS-CoV-2 , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/epidemiologia , Ecocardiografia , Polônia/epidemiologia , Estudos Prospectivos , Adolescente , Hospitalização/estatística & dados numéricos
3.
Allergol. immunopatol ; 52(2): 32-44, mar. 2024. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-231089

RESUMO

Morbihan syndrome (MS) is characterized by solid facial edema, usually related to rosacea or acne vulgaris. The facial edema deforms the patient’s features, can impair peripheral vision, and affects quality of life. Its pathophysiology remains unclear. The disease usually has a slow and chronic course. MS most commonly affects middle-aged Caucasian men with rosacea and is rare in people below 20 years of age. MS is a diagnosis of exclusion. There is no standard treatment for MS, though systemic isotretinoin and antihistamines are mainly used. We present the case of an adolescent girl with MS nonresponding to 19 months of isotretinoin treatment with add-on antihistamines. Therapy with monthly administration of omalizumab (anti-IgE) for 6 months was an effective therapeutic option, improving the quality of life. Our case is the second description of omalizumab use in Morbihan syndrome, the first in an adolescent. (AU)


Assuntos
Humanos , Adolescente , Adulto Jovem , Edema , Rosácea , Acne Vulgar , Isotretinoína , Antagonistas dos Receptores Histamínicos , Omalizumab
4.
Allergol Immunopathol (Madr) ; 52(2): 23-31, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38459887

RESUMO

Morbihan syndrome (MS) is characterized by solid facial edema, usually related to rosacea or acne vulgaris. The facial edema deforms the patient's features, can impair peripheral vision, and affects quality of life. Its pathophysiology remains unclear. The disease usually has a slow and chronic course. MS most commonly affects middle-aged Caucasian men with rosacea and is rare in people below 20 years of age. MS is a diagnosis of exclusion. There is no standard treatment for MS, though systemic isotretinoin and antihistamines are mainly used. We present the case of an adolescent girl with MS nonresponding to 19 months of isotretinoin treatment with add-on antihistamines. Therapy with monthly administration of omalizumab (anti-IgE) for 6 months was an effective therapeutic option, improving the quality of life. Our case is the second description of omalizumab use in Morbihan syndrome, the first in an adolescent.


Assuntos
Angioedema , Rosácea , Masculino , Pessoa de Meia-Idade , Feminino , Humanos , Adolescente , Isotretinoína/uso terapêutico , Omalizumab/uso terapêutico , Qualidade de Vida , Rosácea/diagnóstico , Rosácea/tratamento farmacológico , Síndrome , Edema/diagnóstico , Edema/tratamento farmacológico , Antagonistas dos Receptores Histamínicos/uso terapêutico
5.
Respir Res ; 24(1): 284, 2023 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-37968635

RESUMO

IMPACT: Bronchopulmonary dysplasia has multiple definitions that are currently based on phenotypic characteristics. Using an unsupervised machine learning approach, we created BPD subclasses (e.g., endotypes) by clustering whole microarray data. T helper 17 cell differentiation was the most significant pathway differentiating the BPD endotypes. INTRODUCTION: Bronchopulmonary dysplasia (BPD) is the most common complication of extreme prematurity. Discovery of BPD endotypes in an unbiased format, derived from the peripheral blood transcriptome, may uncover patterns underpinning this complex lung disease. METHODS: An unsupervised agglomerative hierarchical clustering approach applied to genome-wide expression of profiling from 62 children at day of life five was used to identify BPD endotypes. To identify which genes were differentially expressed across the BPD endotypes, we formulated a linear model based on least-squares minimization with empirical Bayes statistics. RESULTS: Four BPD endotypes (A, B,C,D) were identified using 7,319 differentially expressed genes. Across BPD endotypes, 5,850 genes had a p value < 0.05 after multiple comparison testing. Endotype A consisted of neonates with a higher gestational age and birthweight. Endotypes B-D included neonates between 25 and 26 weeks and a birthweight range of 640 to 940 g. Endotype D appeared to have a protective role against BPD compared to Endotypes B and C (36% vs. 62% vs. 60%, respectively). The most significant pathway focused on T helper 17 cell differentiation. CONCLUSION: Bioinformatic analyses can help identify BPD endotypes that associate with clinical definitions of BPD.


Assuntos
Displasia Broncopulmonar , Recém-Nascido , Criança , Humanos , Displasia Broncopulmonar/diagnóstico , Displasia Broncopulmonar/genética , Peso ao Nascer , Transcriptoma , Teorema de Bayes , Recém-Nascido Prematuro
6.
Postepy Dermatol Alergol ; 40(3): 341-349, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37545834

RESUMO

Introduction: The connection between prematurity and atopic dermatitis (AD) is an intensively investigated topic with existing knowledge gaps. The last review with a meta-analysis in this field was published in 2018. Since then, there have been great advances in the comprehension of AD pathophysiology. Aim: To update the knowledge and to discuss the recent findings in the field of AD and its association with prematurity in light of the newest publications. Material and methods: An electronic search of Medline was conducted, limited to the last eleven years. The screening of the full version of English articles was performed to ensure the fulfilment of the selection criteria. Results: Thirteen articles met the inclusion criteria, with a total of over 4 million participants. In the majority of the studies (n = 8), prematurity was associated with a lower risk of atopic dermatitis, although there were also publications (n = 5) that did not find an association between these factors. Conclusions: According to this study, prematurity is associated with a lower risk of atopic dermatitis.

7.
Artigo em Inglês | MEDLINE | ID: mdl-36734392

RESUMO

INTRODUCTION: Introduction: Because neonates in the intensive care units (ICU) experience recurrent stress due to painful medical procedures, they are at risk of dysregulation of the hypothalamus-pituitary-adrenal (HPA) axis. Aim of the study: To evaluate the influence of repeated pain exposure on morning salivary cortisol (SC) in newborns admitted to the ICU. MATERIAL AND METHODS: The neonates were divided into 3 groups: term (370/7-416/7 weeks), moderate to late preterm (320/7-366/7 weeks), and very preterm (< 320/7 weeks). The hospital stay was prospectively monitored for the number of the most common medical procedures. At least 2 saliva samples for morning SC were collected after completion of 35 weeks of postmenstrual age (PMA) in preterm infants and before discharge in term neonates. The results of SC were compared with the reference intervals for healthy term newborns. RESULTS: The study group consisted of 57 patients: 21 term, 17 moderate to late preterm, and 19 very preterm neonates. Very preterm neonates obtained the highest values of mean morning SC in comparison to moderate to late preterm and term infants (3.83 [1.67-8.81] ng/ml vs. 2.44 [1.94-4.38] ng/ml vs. 2.15 [1.5-5.25] ng/ml, p = 0.45). The relationship between mean morning SC and the number of invasive blood samplings was found only in term newborns (Rs = -0.44, p < 0.05). 46% of all SC measurements in very preterm, 47% in moderate to late preterm, and 46% in term infants were within the reference intervals for healthy newborns. CONCLUSIONS: High exposure to painful procedures seems to dampen the morning SC in term, but not in preterm infants.


Assuntos
Hidrocortisona , Recém-Nascido Prematuro , Lactente , Recém-Nascido , Humanos , Dor/etiologia , Sistema Hipófise-Suprarrenal
8.
Eur J Pediatr ; 182(4): 1647-1656, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36719477

RESUMO

The purpose of this study is to assess the rate, clinical picture, and management of multisystem inflammatory syndrome in children (MIS-C) during the different COVID-19 variants of concern (VOC) domination periods. This was a retrospective analysis of prospectively collected data. The incidence and clinical picture of MIS-C during the original/Alpha (group 1) and Delta/Omicron (Group 2) variant domination periods were compared. Among 108 eligible patients, 74 (68.5%) were hospitalized during the group 1 domination period, and 34 (31.5%) were hospitalized during the group 2 domination period. The median (Me) patient ages were 76 months (interquartile range [IQR] 35-130) and 73 months (IQR 45-118), and 61% and 65% of patients were male, respectively. There was no significant difference in the presence of positive SARS-CoV 2 antibody test results (IgM or IgG) between the groups (84 vs. 90%; p = 0.54).No differences between groups were observed in fever duration prior to admission (Me [IQR]: 5 days [3-6] vs. 5 days [4-6]; p = 0.26) or the presence of mucocutaneous (95 vs. 100%; p = 0.41), circulatory (70.3 vs. 61.8%; p = 0.86), neurological (6.8 vs. 2.9%; p = 0.662), or gastrointestinal symptoms (84 vs. 79%; p = 0.59). Respiratory symptoms were more common in group 2 (70 vs. 91%; p = 0.015). The need for intensive care unit admission was similar in both groups (16.2 vs. 17.6%, p = 1.0). No deaths occurred in the entire cohort. The studied children were characterized by high C-reactive protein and procalcitonin levels, concentrations of ferritin within normal limits, lymphopenia, moderate hypoalbuminemia, and high B-type natriuretic peptide/brain natriuretic peptide (NT-proBNP) concentrations; however, there were no differences between the groups. Intravenous immunoglobulins were administered as a first-line treatment for almost all patients. There was no significant difference in corticosteroid administration between the groups (87% vs. 74%; p = 0.11); however, the summary dose of methylprednisolone was higher in group 2 (Me [IQR]″ 12.6 mg/kg [10.5-17.8] vs. 16.4 mg/kg [13.3-19.5]; p = 0.03). The median length of stay was 11 days [IQR]: [9-14] and 10 days [8-12], respectively (p = 0.065). CONCLUSION: The clinical course of MIS-C is similar in subsequent pandemic waves; however, the incidence of MIS-C seems to be decreasing. WHAT IS KNOWN: • The clinical picture of COVID-19 is evolving. Multisystem inflammatory syndrome in children (MIS-C) is a relatively new serious disease connected with SARS-CoV-2 infection, and in subsequent waves of the pandemic, new cases of the disease have been recorded. WHAT IS NEW: • The clinical picture of MIS-C is not specific, but the course is still severe. • The incidence of MIS-C during the different pandemic waves is decreasing and the diagnosis in the period of lower prevalance is challenging.


Assuntos
COVID-19 , Infecções por Coronavirus , Pneumonia Viral , Criança , Humanos , Masculino , Feminino , COVID-19/epidemiologia , SARS-CoV-2 , Pneumonia Viral/epidemiologia , Infecções por Coronavirus/epidemiologia , Estudos Retrospectivos , Pandemias
9.
J Perinat Med ; 51(4): 564-572, 2023 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-36282969

RESUMO

OBJECTIVES: The study aimed to evaluate the usefulness of salivary cortisol (SC) for the assessment of procedural pain intensity in preterm and term newborns. METHODS: Three groups of neonates (term, 370-416 weeks; moderate to late preterm, 320-366; and very preterm, <320) hospitalized in neonatal intensive care unit were assessed for the study. Response to nappy change, lung ultrasound (LUS), and blood sampling was analyzed. The intensity of pain was evaluated using continuous heart rate and blood oxygen saturation (SpO2) monitoring, Neonatal Infant Pain Scale (NIPS), and SC concentrations. Saliva samples were collected before and 20 min after the procedure's end. RESULTS: Seventy-one infants were examined: 30 term, 21 moderate to late preterm, and 20 very preterm. SC has increased significantly in response to nappy change only in very preterm newborns (2.13 ng/mL [1.55-3.68] vs. 2.84 ng/mL [1.93-9.06], p = 0.01). LUS did not affect concentrations of SC in any group. Significant increase in SC was observed after blood sampling in term and very preterm infants (2.2 ng/mL [1.45-2.92] vs. 4.29 ng/mL [3.88-5.73], p = 0.002, and 1.88 ng/mL [1.47-4.13] vs. 5.3 ng/mL [3.42-8.02], p = 0.002, respectively). A significant correlation between values of SC increase and NIPS scores was found (Spearman's rank correlation coefficient [rs] = 0.31, p = 0.001). CONCLUSIONS: We observed the increase in SC concentrations in response to painful stimulus. The presence of a correlation between NIPS scores and SC increase suggests that SC can be used as an objective parameter to assess pain in neonates.


Assuntos
Recém-Nascido Prematuro , Dor Processual , Lactente , Recém-Nascido , Humanos , Recém-Nascido Prematuro/fisiologia , Dor Processual/diagnóstico , Dor Processual/etiologia , Dor Processual/prevenção & controle , Hidrocortisona , Saliva , Dor/diagnóstico , Dor/etiologia
10.
Am J Physiol Lung Cell Mol Physiol ; 324(1): L76-L87, 2023 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-36472344

RESUMO

Bronchopulmonary dysplasia (BPD) is the most common lung disease of extreme prematurity, yet mechanisms that associate with or identify neonates with increased susceptibility for BPD are largely unknown. Combining artificial intelligence with gene expression data is a novel approach that may assist in better understanding mechanisms underpinning chronic lung disease and in stratifying patients at greater risk for BPD. The objective of this study is to develop an early peripheral blood transcriptomic signature that can predict preterm neonates at risk for developing BPD. Secondary analysis of whole blood microarray data from 97 very low birth weight neonates on day of life 5 was performed. BPD was defined as positive pressure ventilation or oxygen requirement at 28 days of age. Participants were randomly assigned to a training (70%) and testing cohort (30%). Four gene-centric machine learning models were built, and their discriminatory abilities were compared with gestational age or birth weight. This study adheres to the transparent reporting of a multivariable prediction model for individual prognosis or diagnosis (TRIPOD) statement. Neonates with BPD (n = 62 subjects) exhibited a lower median gestational age (26.0 wk vs. 30.0 wk, P < 0.01) and birth weight (800 g vs. 1,280 g, P < 0.01) compared with non-BPD neonates. From an initial pool (33,252 genes/patient), 4,523 genes exhibited a false discovery rate (FDR) <1%. The area under the receiver operating characteristic curve (AUC) for predicting BPD utilizing gestational age or birth weight was 87.8% and 87.2%, respectively. The machine learning models, using a combination of five genes, revealed AUCs ranging between 85.8% and 96.1%. Pathways integral to T cell development and differentiation were associated with BPD. A derived five-gene whole blood signature can accurately predict BPD in the first week of life.


Assuntos
Displasia Broncopulmonar , Recém-Nascido , Humanos , Displasia Broncopulmonar/diagnóstico , Displasia Broncopulmonar/genética , Peso ao Nascer , Transcriptoma/genética , Inteligência Artificial , Recém-Nascido Prematuro , Idade Gestacional
11.
J Clin Med ; 11(24)2022 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-36555963

RESUMO

Since the beginning of the pandemic, many reports have pointed to age as the most important risk factor for severe COVID-19 in adults, but this relationship is less clear in children. Between March 2020 and April 2022, 1405 pediatric COVID-19 patients were included in our prospective study, which aimed to analyze the disease's characteristics in three age groups: infants, toddlers (1-5 years), and children (5-18 years). We observed male prevalence of the disease in infants and toddlers compared to female prevalence in children. Comorbidities appeared most often in children. In the first pandemic wave, the vast majority of pediatric patients were children, but later, the percentage of infant and toddler patients increased significantly. A total of 74% of hospitalized children were younger than five years. Upper respiratory tract symptoms were most common in infants and toddlers, and lower respiratory tract symptoms and gastroenterocolitis were more common in children. Neurological symptoms appeared similarly in all age groups. The activities of ALT, CK, and LDH were the most elevated in infants, along with D-dimers. The median length of hospitalization fluctuated between three and four days and was highest in infants. Severe courses were more common in adolescents.

12.
J Clin Med ; 11(22)2022 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-36431283

RESUMO

This is a single-center, prospective study that compared the clinical presentation and laboratory findings of hospitalized children during the first five waves of the COVID-19 pandemic. Data were collected, according to a standardized questionnaire, from 1407 children from 23 March 2020 to 30 April 2022. Significant differences in clinical courses were found among the five waves probably due to different SARS-CoV-2 variants. The median age was 95.8 months in the first wave versus 14.6-23 months in the others. The number of patients with upper respiratory infection was the highest in the fifth wave (74.4% versus 43.8-56.9% in the others) and for lower respiratory infection in the first wave (50.0% versus 16.4-32.5%). Gastroenterocolitis was more common in the fifth wave (24.4% versus 8.9-16.5%); neurological diagnoses appeared more frequently in the fourth wave (16.6% versus 0.6-9.9%), while anosmia and ageusia were higher in the fifth wave (13% versus 1.5-4%). Life-threatening courses were relatively rare. However, children with pneumonia, dehydration from high fever, gastrointestinal symptoms, loss of smell and taste, and neurological symptoms required hospitalization.

13.
Pediatr Ann ; 51(10): e396-e404, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36215088

RESUMO

Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease of extreme prematurity. Despite more than 50 years of research, current treatments are ineffective, and clinicians are largely unable to accurately predict which neonates the condition will develop in. A deeper understanding of the molecular mechanisms underlying the characteristic arrest in lung development are warranted. Integrating high-fidelity technology from precision medicine approaches may fill this gap and provide the tools necessary to identify biomarkers and targetable pathways. In this review, we describe insights garnered from current studies using omics for BPD prediction and stratification. We conclude by describing novel programs that will integrate multi-omics in efforts to better understand and treat the pathogenesis of BPD. [Pediatr Ann. 2022;51(10):e396-e404.].


Assuntos
Displasia Broncopulmonar , Doenças do Prematuro , Big Data , Biomarcadores , Displasia Broncopulmonar/diagnóstico , Displasia Broncopulmonar/terapia , Humanos , Recém-Nascido , Medicina de Precisão
14.
J Vasc Access ; : 11297298221100441, 2022 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-35674147

RESUMO

BACKGROUND: Umbilical vessels present after birth allow a unique central access for both venous and arterial catheterization, yet the catheterization complications can be misdiagnosed as the complications of prematurity per se. METHODS: A prospective observational study of 41 used polyurethane umbilical catheters, both venous and arterial was conducted in a tertiary neonatal intensive care unit. The study consisted of bedside ultrasound imaging and post-removal microbiological and microstructural analysis to assess the in vivo catheters' changes and their clinical significance. RESULTS: The study has shown that catheters' surface thrombosis and bacterial colonization happen more often within umbilical venous than within arterial catheters (31% vs 8% in both cases) and are inversely proportional to the patient's gestational age (thrombosis: Me: 28 weeks vs no thrombosis: 32 weeks; p = 0.05, bacterial colonization: 27 weeks vs no colonization: 30 weeks; p = 0.013), respectively. The clots formed near the catheter's tip are correlated with catheter's bacterial colonization. Chemical analysis with energy dispersive spectroscopy showed a higher calcium composition in used catheters (19.89% vs 0%, p = 0.016) and structure analysis in the scanning electron microscopy proved that within hours catheters become covered with an external coating of a constant thickness, not affected by the catheterization time. CONCLUSION: The following observations give a better insight to the complex in vivo interactions and call for a more intense bedside-monitoring of the indwelling devices.

15.
Postepy Dermatol Alergol ; 39(1): 13-19, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35369644

RESUMO

The objective of the review is to present recent updates on anaphylaxis in paediatric population worldwide. The article summarizes the results of epidemiological studies, diagnostic methods and treatments. We present a new WAO definition of anaphylaxis (2019), which broader criteria excluding dermal symptoms should facilitate faster life-saving adrenaline use. Adrenaline remains the best treatment to manage severe symptoms and to prevent biphasic reactions. There is ongoing effort to increase adrenaline use, such as modified autoinjectors, individual training, and diversified dosing. There are five independent risk factors of lethal anaphylaxis in children, including history of asthma, almost immediate onset of symptoms, unwell appearance, tachycardia and hypotension. We also report improvements in diagnostics, like component-resolved diagnostics, and novel therapies stimulating immunotolerance. We signal the development of ICD-11 with updated coding of anaphylaxis, which corresponds better to clinical observations.

16.
Pediatr Endocrinol Diabetes Metab ; 28(2): 114-122, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35399045

RESUMO

INTRODUCTION: Some storage diseases, caused by a deficiency of a specific enzyme, which results in the systemic accumulation of non-metabolized substances, can be treated with enzyme replacement therapy (ERT), which can protect many organs, including the endocrine system. AIM: The aim of the study was to assess the function and morphology of the thyroid gland in children with storage diseases treated with ERT, and to review the literature. MATERIAL AND METHODS: Eight patients were included in the study: 3 with Fabry disease (age: 17; 9.9; 10 years), 3 with Hunter's disease (12.3; 4.1; 9,3), and 2 with Pompe disease (6.8; 9,5). Thyroid function and morphology were assessed in each patient during ERT, and 4 of them were reassessed 27 months later. RESULTS: One patient with Fabry disease had been treated for hypothyroidism due to autoimmune thyroiditis diagnosed before the study. The remaining patients had normal thyroid tests and negative anti-thyroid antibodies at first and second evaluation; however, in all reassessed patients a decrease in TSH value was noted. Among the remaining patients with Fabry disease, one had normal and a second had heterogeneous echogenicity of the thyroid during first assessment. In the second patient, normalisation of echogenicity was observed at reassessment. Both patients with Pompe disease assessed once had slightly heterogeneous thyroid echogenicity. In 3 patients with Hunter's disease in the first ultrasound examination, no abnormalities were found. In re-evaluation, 2 of them showed heterogeneous thyroid echogenicity. CONCLUSIONS: We conclude that patients with storage diseases should undergo assessment of thyroid function and morphology before and during ERT.


Assuntos
Doença de Fabry , Doença de Depósito de Glicogênio Tipo II , Tireoidite Autoimune , Criança , Terapia de Reposição de Enzimas , Doença de Fabry/tratamento farmacológico , Humanos
17.
Am J Med Genet A ; 188(6): 1848-1852, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35199468

RESUMO

This is the first report of the concurrent development of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and Crigler-Najjar syndrome type 1 (CNs1) inherited via uniparental disomy of chromosome 2, which are both autosomal recessive pathologies. Through an expanded newborn metabolic panel, a male infant was identified as having an acylcarnitine pattern typical for LCHADD, later confirmed to be caused by a well-characterized pathogenic variant in the HADHA gene located at 2p23. Prolonged non-hematologic jaundice requiring repetitive phototherapy prompted further genetic analysis, leading to the identification of another genetic abnormality consistent with CNs1, which was caused by a novel pathogenic variant in the UGT1A1 gene located at 2q37. The two identified point mutations in chromosome 2 were homozygous and present on separate arms, which indicated potential uniparental disomy. Microarray analysis of the genetic material from the patient and his parents confirmed paternal isodisomy of chromosome 2. Further studies are needed to identify other possible pathogenic variants located on the same defective chromosome, evaluate the combined effect of the two metabolic abnormalities, and plan the best possible treatment and care.


Assuntos
Síndrome de Crigler-Najjar , Cardiomiopatias , Cromossomos Humanos Par 2/genética , Síndrome de Crigler-Najjar/genética , Humanos , Lactente , Recém-Nascido , Erros Inatos do Metabolismo Lipídico , Masculino , Miopatias Mitocondriais , Proteína Mitocondrial Trifuncional/deficiência , Doenças do Sistema Nervoso , Rabdomiólise , Dissomia Uniparental/genética
18.
Minerva Pediatr (Torino) ; 74(2): 121-131, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-29381011

RESUMO

BACKGROUND: Immature immune systems predispose very low birth weight (VLBW) neonates to systemic infections in early life. Defective inflammasome function may increase a neonate's susceptibility to late-onset sepsis (LOS). METHODS: Blood samples were taken on the 5th day of life (DOL) for all VLBW neonates (non-LOS and before-LOS groups; N.=76), and within 24 hours of sepsis onset (LOS group; N.=39). Monocyte (MO) subsets and intracellular interleukin-1ß (IL-1ß) expression were analyzed using flow cytometry. Inflammasome function, defined as level of IL-1ß and interleukin-18 (IL-18) was measured with enzyme-linked immunosorbent assay. IRA B cells were reported as a fraction of all B cells. RESULTS: Stimulation of classical MO in non-LOS cells demonstrated a higher expression of intracellular IL-1ß in comparison to MO from before LOS group. Serum from the LOS group revealed a higher level of IL-18. Stimulation of mononuclear cultures from samples taken during LOS resulted in significantly increased supernatant level of IL-1ß and IL-18 in comparison to samples taken on 5th DOL. No changes in the levels of IRA B cells were detected with the onset of sepsis. CONCLUSIONS: We did not observe a difference in the functioning of the inflammasome within monocytes taken on 5th DOL from premature VLBW neonates. Furthermore, there was no observable change in the IRA B cells of the septic and non-septic groups. The decreased expression of intracellular IL-1ß within classical MO of the before-LOS group may be an independent risk factor for LOS development.


Assuntos
Doenças do Recém-Nascido , Sepse , Humanos , Recém-Nascido , Doenças do Recém-Nascido/metabolismo , Recém-Nascido de muito Baixo Peso , Inflamassomos/metabolismo , Interleucina-18/metabolismo , Monócitos/metabolismo
19.
Minerva Pediatr (Torino) ; 74(4): 416-420, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-29968446

RESUMO

BACKGROUND: Irisin is a newly discovered myokine with antiobesity properties. The delivery of irisin with the breast milk or formula is an emerging concept that myokine present at human milk influences postnatal energy balance and developmental parameters. The aim of the study was to evaluate irisin concentration in breast milk of mothers with term and preterm babies and in infant formulas. METHODS: A total of 49 lactating mothers were enrolled in the study: 31 mothers of very low birth weight preterm infants and 18 mothers of term infants. Milk samples were collected twice: during the first week after delivery and after 4 weeks of delivery. Irisin concentration was determined using ELISA kits both in human milk and in samples of 14 different infant formulas. RESULTS: There were no differences in milk irisin levels between preterm and full-term milk samples during both the 1st and the 4th week after delivery. There were also no differences in irisin concentration between transitional milk and mature milk in both tested groups. Irisin concentrations in preterm and full-term milk were significantly higher than in formulas for 30 days period after delivery. A significant increase of irisin concentration in natural milk 4 weeks postdelivery in comparison to 1st week after delivery was observed (mean difference 0.362 µg/mL; P=0.0063). CONCLUSIONS: This study provides evidence that irisin is present in infant formulas, although in less amount than in human milk. Further research is needed to assess, if children fed with infant formulas may disadvantage from lower irisin supply.


Assuntos
Fibronectinas , Fórmulas Infantis , Leite Humano , Feminino , Fibronectinas/análise , Humanos , Lactente , Fórmulas Infantis/química , Recém-Nascido , Recém-Nascido Prematuro , Leite Humano/química
20.
Pediatr Rep ; 15(1): 1-8, 2022 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-36649001

RESUMO

Objective: A restrospective analysis of the clinical picture (inflammatory markers, characteristics of fever, comorbidities) in different clinical manifestations of human adenovirus (HAdV) infections confirmed using point-of-care testing in a group of hospitalized children. Material and Methods: A total of 135 children with confirmed HAdV infections were divided into three groups according to their clinical symptoms: Group A­respiratory (n = 57), Group B­gastrointestinal (n = 40), and Griup C­mixed (n = 38). Results: Respiratory and mixed HAdV-infected patients, as compared with gastrointestinal HAdV-infected patients, were younger (median value (Me) and interquartile range (IQR) (months): 17 (12−30) and 17 (12−27) vs. 30 (16−50), p = 0.04), had a longer duration of fever (days): 3 (1−5) and 3 (1−4) vs. 1 (1−2), p = 0.01), and had higher C-reactive protein values (mg/L): 29.2 (10.4−69.1) and 28.7 (10.8−49.1) vs. <5 (<5−20.6), p < 0.001). There were no correlations between CRP levels and patient's age, fever duration, the occurrence of acute otitis media and lower respiratory tract infection, and antibiotic treatment before admission. Conclusions: Patients with respiratory HAdV infections have fevers more often, the duration of the fever prior to admission is longer, and CRP levels are higher.

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