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1.
Int J Mol Sci ; 24(9)2023 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-37176120

RESUMO

Childhood obesity represents a worldwide concern as many countries have reported an increase in its incidence, with possible cardiovascular long-term implications. The mechanism that links cardiovascular disease to obesity is related to low-grade inflammation. We designed this study to investigate the diagnostic utility of inflammatory indices (NLR, neutrophil-to-lymphocyte ratio; PLR, platelet-to-lymphocyte ratio; SII, systemic immune-inflammation index; SIRI, systemic inflammation response index) in obese children with metabolic syndrome (MetS) and their relationship with cardiometabolic risk biomarkers, such as the Homeostasis Model Assessment of Insulin Resistance (HOMA-IR), triglyceride-to-high-density lipoprotein cholesterol (TG:HDL-C), and non-high-density lipoprotein cholesterol (non-HDL-C). A total of 191 obese children from one large Romanian reference center was included in the study. Patients were classified in two groups according to the presence (MetS group) or absence (non-MetS group) of metabolic syndrome. According to our results, the SII index proved to have diagnostic value in distinguishing MetS patients among children with obesity (AUC = 0.843, a sensitivity of 0.83, and a specificity of 0.63). Furthermore, the SII was positively associated with cardiometabolic risk biomarkers (HOMA-IR, p < 0.001; TG:HDL-C, p = 0.002; non-HDL-C, p = 0.021), highlighting its possible role as an additional measure of cardiometabolic instability in obese children.


Assuntos
Doenças Cardiovasculares , Resistência à Insulina , Síndrome Metabólica , Obesidade Infantil , Humanos , Criança , Síndrome Metabólica/epidemiologia , Obesidade Infantil/complicações , Resistência à Insulina/fisiologia , Inflamação/complicações , Colesterol , Doenças Cardiovasculares/etiologia , Triglicerídeos , HDL-Colesterol , Biomarcadores
2.
Heart Lung Circ ; 30(11): 1647-1657, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34393048

RESUMO

The paper aims to review the available data about the main mechanisms enabling improvement or accelerating vascular ageing due to food choices, considering recent experimental and clinical data, and emphasising potential implications for clinical practice and therapy. The main food choices which will be discussed are diets rich in fruits and vegetables, the Mediterranean diet, polyunsaturated fatty acids, cocoa, caffeine, tea, meat, dairy products, sodium, and potassium intake.


Assuntos
Dieta , Humanos
3.
Clin Lab ; 64(7): 1241-1248, 2018 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-30146849

RESUMO

BACKGROUND: Pregnancy-induced hypertension (PIH) is a multifactorial disorder that increases the risk of morbidity and mortality in both mother and newborn. Although there are many studies that track the effects of PIH on maternal and neonatal outcome, the results are contradictory. This retrospective study focuses on the effect of maternal PIH on neonatal hematological changes (thrombocytopenia and neutropenia). It also tries to determine whether neonatal thrombocytopenia and neutropenia are direct consequences of maternal PIH, rather than of the small for gestational age (SGA) status of the newborn. METHODS: A three year restrospective observational study was conducted, from 1st of January 2014 to 31st of December 2016, on 6,077 newborns registered at the Neonatology Department of the Clinic of Obstetrics, Gynecology, and Neonatology, Emergency County Hospital, Timișoara, România. Selection of newborns with maternal PIH was made using the case-mix records RO DRG v1., according to which PIH was classified in gestational hypertension, preeclampsia and eclampsia. Patients were divided into four study groups, according to birth weight for gestational age and presence or absence of maternal PIH: 5,867 appropriate for gestational age (AGA) neonates form healthy mothers (AGA-Controls), 152 small for gestational age neonates from healthy mothers (SGA-Controls), 40 AGA newborns with maternal PIH (AGA-PIH) and 18 SGA newborns with maternal PIH (SGA-PIH). Regression and correlation analysis using the XLSTAT Microsoft Excel® tool pack, was performed to compare data from the study groups of neonates from mothers with PIH and the control groups of neonates from normotensive mothers. RESULTS: SGA-PIH neonates were the most affected with regard to the hematological abnormalities (33.3% neutropenic and 27.7% thrombocytopenic newborns) followed by AGA-PIH neonates (22.5% neutropenia and 17.5% thrombocytopenia). SGA-Controls had much lower percentages of both neutropenia and thrombocytopenia (2.63% and 1.97% respectively), whereas AGA-Controls had no record of any hematological changes. CONCLUSIONS: Maternal PIH has a strong influence on the development of newborn hematologic abnormalities, such as neutropenia and thrombocytopenia. The incidence and severity of these hematological changes are increased in neonates of mothers with PIH, that are born preterm and/or SGA.


Assuntos
Doenças Hematológicas/sangue , Hipertensão Induzida pela Gravidez/sangue , Doenças do Recém-Nascido/sangue , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Peso ao Nascer , Feminino , Idade Gestacional , Doenças Hematológicas/diagnóstico , Humanos , Hipertensão Induzida pela Gravidez/diagnóstico , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Neutropenia/sangue , Neutropenia/diagnóstico , Gravidez , Estudos Retrospectivos , Fatores de Risco , Romênia , Trombocitopenia/sangue , Trombocitopenia/diagnóstico
4.
Clin Lab ; 64(10): 1593-1610, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-30336534

RESUMO

BACKGROUND: The first line of defence against oxidative stress (OS) are the endogenous antioxidants, such as the Se containing compounds. During pregnancy, OS is caused by the intense growth activity of the fetus; therefore, the placenta is a key place for the activity of many seleno-compounds such as glutathione-peroxidase and thioredoxinreductase. METHODS: This review aims to establish the link between the type of selenium compounds, their concentration, their metabolic pathways, and their role in both physiologic and pathologic processes during pregnancy. RESULTS: A review of current literature establishes that Se containing compounds have a strong antioxidant effect. The limits that define deviations from the normal concentration range of selenium are very close. Both selenium deficiency and excess have an effect on human health. It is well known that oxidative stress, namely the increase in the concentration of reactive species of oxygen and nitrogen (ROS and RNS) and the disruption of cellular redox homeostasis, are responsible for a number of inflammatory, degenerative, autoimmune, and neoplastic diseases. Selenium deficiency in the pregnant woman's body is considered a risk factor for immune deficiency, PIH, spontaneous abortions, and premature birth. In regard to the fetus, while there seems to be a certain protection against selenium-induced toxicity, studies have shown that selenium defficiency leads to IUGR and SGA newborns. Also, combined deficiency of selenium and iodine has been linked to endemic cretinism in newborns. CONCLUSIONS: The antioxidant role that selenium performs through selenoproteins is major. Selenium-containing proteins, especially glutathione peroxidase, as antioxidant enzymes, are involved in regulating the ROS and RNS levels and redox balancing in almost all tissues. Among the multiple benefits of selenium in optimal concentrations in the body are stimulation and support of female fertility, as well as good development of the fetus. Hypertensive pathologies that occur in one of ten pregnant women, especially during the second part of the gestation period, are largely due to selenium deficiency.


Assuntos
Antioxidantes/metabolismo , Hipertensão Induzida pela Gravidez/metabolismo , Estresse Oxidativo , Compostos de Selênio/metabolismo , Selênio/metabolismo , Feminino , Homeostase , Humanos , Hipertensão Induzida pela Gravidez/fisiopatologia , Oxirredução , Gravidez
5.
Rev Esp Enferm Dig ; 110(6): 352-357, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29465250

RESUMO

INTRODUCTION: the majority of studies of acute gastrointestinal bleeding in children are retrospective, focusing on therapeutic endoscopy. Previous studies performed in adult patients have demonstrated that both scheduled second look endoscopy and high dose continuous omeprazole infusion are effective in the prevention of peptic ulcer rebleeding. The aim of this study was to compare the efficacy of these two strategies using esomeprazole for the prevention of rebleeding following primary endoscopic hemostasis in children with peptic ulcers. The main outcome was to assess the rebleeding rate within 30 days after the initial hemostasis. METHODS: consecutive pediatric cases who underwent endoscopic treatment for bleeding peptic ulcers were randomized into two treatment groups following hemostasis. The first group received esomeprazole as an intravenous bolus every 12 hours for 72 hours and a routine second look endoscopy within 12-24 hours with endotherapy retreatment in the case of a persistent stigmata of bleeding. The second group received a continuous high dose esomeprazole infusion for 72 hours without endoscopic reassessment unless required due to rebleeding. RESULTS: a total of 63 children were randomized to the second look endoscopy group and 64 to the esomeprazole infusion group. Rebleeding occurred within 30 days in four patients (6.3%) in the first group and in three patients (4.6%) in the second group (p = 0.7). CONCLUSIONS: a pharmaceutical approach using a high dose continuous esomeprazole infusion in children after an initial endoscopic hemostasis has a similar efficacy compared to second look endoscopy and bolus esomeprazole administration for the prevention of peptic ulcer rebleeding. Thus, the discomfort of a second endoscopy in children can be avoided and is only recommended for selected high risk cases.


Assuntos
Antiulcerosos/administração & dosagem , Esomeprazol/administração & dosagem , Úlcera Péptica Hemorrágica/prevenção & controle , Prevenção Secundária/métodos , Antiulcerosos/uso terapêutico , Criança , Esquema de Medicação , Esomeprazol/uso terapêutico , Feminino , Hemostase Endoscópica , Humanos , Infusões Intravenosas , Injeções Intravenosas , Masculino , Úlcera Péptica Hemorrágica/terapia , Estudos Prospectivos , Recidiva , Resultado do Tratamento
6.
Clin Lab ; 63(5): 887-899, 2017 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-28627816

RESUMO

BACKGROUND: Selenium is a chemical element found in the human body that plays a crucial role in its regulation. Depending on the concentration, it may have beneficial or have toxic effects. Selenium is incorporated as selenocysteine amino acid residue in selenoproteins which play an important role in many biological functions: anti-oxidant defense, regulation of the immune function and of the inflammatory response, metabolism of thyroid hormones, functioning of the central nervous system, biosynthesis of DNA and RNA, fertility, and reproduction. Excess selenium, altough less common than selenium deficiency, has equally important negative effects. METHODS: Given the importance of selenium quantification in various samples, the study proposes a simple and direct spectrophotometric determination of selenium using triiodide anions. The method is based on the oxidation of iodide in acidic medium by selenium (IV) contained in the sample, to form elemental iodine which, in turn, reacts with the excess iodide to form the triiodide anions, the most stable soluble species in aqueous solution. Triiodide is colored from yellow to brown, depending on the concentration. The coloured compound has maximum absorbance at specific wavelengths and thus, the stage of interaction with a chromogenic agent is eliminated. Due to the sensitivity of the reaction, the detection limit of triiodide, and therefore selenium, is extended toward lower values. RESULTS: The optimal conditions for the measurements were established: λ = 290 nm, pH = 1.0 - 1.5, reaction time = 15 minutes. Two areas of selenium detection were determined from the samples: 0.025 - 0.100 ppm, and 0.1 - 4.0 ppm. The detection limit of selenium was lowered at 0.100 ppm and even at 0.025 ppm, which significantly improves the sensitivity of the determination. Types of samples were specified which are suitable for analysis using the proposed method and explained why, in case of biological fluids, it must be used only accompanied by an adequate digestion method of the samples. CONCLUSIONS: Selenium can be measured by direct spectrophotometric determination of the triiodide anion resulting from the oxidation of iodide by selenium (IV) compounds from the sample. In this regard, a simple, direct, and sensitive determination method of selenium from the samples by UV-Vis spectrophotometry, without the use of chromogenic agents has been optimized.


Assuntos
Selênio/análise , Espectrofotometria , Humanos , Iodo , Oxirredução , Água
7.
J Clin Med ; 13(5)2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38592680

RESUMO

Background: Inflammatory bowel diseases (IBDs) have seen an exponential increase in incidence, particularly among pediatric patients. Psychological stress is a significant risk factor influencing the disease course. This review assesses the interaction between stress and disease progression, focusing on articles that quantified inflammatory markers in IBD patients exposed to varying degrees of psychological stress. Methods: A systematic narrative literature review was conducted, focusing on the interaction between IBD and stress among adult and pediatric patients, as well as animal subjects. The research involved searching PubMed, Scopus, Medline, and Cochrane Library databases from 2000 to December 2023. Results: The interplay between the intestinal immunity response, the nervous system, and psychological disorders, known as the gut-brain axis, plays a major role in IBD pathophysiology. Various types of stressors alter gut mucosal integrity through different pathways, increasing gut mucosa permeability and promoting bacterial translocation. A denser microbial load in the gut wall emphasizes cytokine production, worsening the disease course. The risk of developing depression and anxiety is higher in IBD patients compared with the general population, and stress is a significant trigger for inducing acute flares of the disease. Conclusions: Further large studies should be conducted to assess the relationship between stressors, psychological disorders, and their impact on the course of IBD. Clinicians involved in the medical care of IBD patients should aim to implement stress reduction practices in addition to pharmacological therapies.

8.
J Clin Med ; 13(9)2024 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-38731111

RESUMO

(1) Background: Although most cases of new-onset type 1 diabetes mellitus (T1DM) are managed without serious events, life-threatening complications do arise in a subset of patients. Our objective was to assess the correlation between elevated SIRI values and adverse events related to the onset of T1DM. (2) Methods: This retrospective study, spanning ten years, included 187 patients with new-onset T1DM divided into three groups based on SIRI tertiles. The primary outcome was the occurrence of acute complications during hospital admission, while the secondary outcome was prolonged Intensive Care Unit (ICU) admission. (3) Results: Patients with high SIRI values were more likely to experience higher disease activity, leading to longer ICU admission times and more frequent complications. Multivariate logistic regression analysis revealed that the SIRI was independently associated with acute complications (p = 0.003) and prolonged ICU length of stay (p = 0.003). Furthermore, receiver operating characteristic analysis demonstrated the SIRI's superior predictive accuracy compared to venous pH (AUC = 0.837 and AUC = 0.811, respectively) and to the individual component cell lineages of the SIRI. (4) Conclusions: These findings emphasize the potential utility of the SIRI as a prognostic marker in identifying patients at increased risk during T1DM hospital admissions.

9.
Foods ; 13(9)2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38731672

RESUMO

Food neophobia involves avoiding new foods due to reluctance, aversion, or disgust. The Food Neophobia Scale (FNS) is the most reliable and common adult food neophobia test. It helps compare food neophobia across cultures by being translated into numerous languages. This study adapted, translated, and validated the FNS for Romania. This translated version was piloted in November 2023 on 59 students in the medical field from two distinct Romanian cities. Between December 2023 and February 2024, 375 adults were surveyed, representing Romania's population within a 90% confidence interval. The average age of responders was 38.07 years, with a standard deviation of 10.75 and a 4:1 female-to-male sex ratio. The Cronbach's alpha test was used to validate the questionnaire. Our study found that the mean FNS value was 31.86; most Romanian respondents (69.20%) were neutral towards trying new foods, with a significant portion being neophobes (18.21%) outnumbering neophiles (12.59%). When compared to international study results, Romanian adults, on average, exhibited a higher percentage of neophobes compared to those in Korea (13%), Hungary (16.8%), Italy (17%), and Brazil (17.5%), but a lower percentage than those in Lebanon (21.5%). The findings indicate that the translated scale can be utilized to assess neophobia among Romanian speakers.

10.
J Clin Med ; 13(8)2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38673639

RESUMO

Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is necessary to determine its underlying cause, whether it presents acutely or chronically, and to tailor treatment based on its severity. Among the potential causes of chronic hypocalcemia, primary hypoparathyroidism stands out. The case of a seven-year-old male patient with hypocalcemia reported in this article serves as an illustration, wherein targeted next-generation sequencing revealed a homozygous p.R257X mutation in the AIRE gene, indicative of autoimmune polyendocrine syndrome type 1 (APS-1). It poses challenges due to its multisystemic nature and involvement of specific autoantibodies, often leading to underdiagnosis, owing to its rarity, varied manifestations, and incomplete penetrance. A comprehensive review of the APS-1 literature was conducted to provide insights into the clinical manifestations, genetic spectrum, potential immunological mechanisms, and current medical strategies. Additionally, the recognition of AIRE gene mutations is crucial for facilitating genetic diagnosis, prognosis, and potential treatment strategies for APS-1. The management of such cases involves individualized approaches to treatment, regular monitoring, medication adjustments, and the early identification of associated conditions.

11.
Cells ; 13(5)2024 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-38474406

RESUMO

Juvenile Idiopathic Arthritis (JIA), the leading childhood rheumatic condition, has a chronic course in which persistent disease activity leads to long-term consequences. In the era of biologic therapy and tailored treatment, precise disease activity assessment and aggressive intervention for high disease activity are crucial for improved outcomes. As inflammation is a fundamental aspect of JIA, evaluating it reflects disease severity. Recently, there has been growing interest in investigating cellular immune inflammation indices such as the neutrophil-to-lymphocyte ratio (NLR) and systemic immune inflammation index (SII) as measures of disease severity. The aim of this retrospective study was to explore the potential of the SII in reflecting both inflammation and disease severity in children with JIA. The study comprised 74 JIA patients and 50 healthy controls. The results reveal a notable increase in median SII values corresponding to disease severity, exhibiting strong correlations with traditional inflammatory markers, including CRP and ESR (ρ = 0.714, ρ = 0.661), as well as the JADAS10 score (ρ = 0.690). Multiple regression analysis revealed the SII to be independently associated with JADAS10. Furthermore, the SII accurately distinguished patients with high disease activity from other severity groups (AUC = 0.827, sensitivity 81.5%, specificity 66%). These findings suggest that integrating the SII as an additional measure holds potential for assessing disease activity in JIA.


Assuntos
Artrite Juvenil , Criança , Humanos , Estudos Retrospectivos , Índice de Gravidade de Doença , Inflamação , Gravidade do Paciente
12.
Nutrients ; 16(6)2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38542680

RESUMO

Food neophobia (FN), the fear of sampling new foods, can have a significant impact on children's eating habits. Children with phenylketonuria (PKU), a hereditary condition that inhibits the body's capacity to metabolize phenylalanine, should take this attitude with caution. Patients with PKU must follow a rigorous phenylalanine (Phe)-restricted diet to avoid brain malfunction that can include intellectual disability, seizures, and behavioral difficulties. The novelty of our work stems from the fact that we explored the origins of this incorrect intake pattern, which exacerbates PKU patients' already fragile health. We conducted a cross-sectional study on 34 previously diagnosed phenylketonuria patients and a control group ranging in age from 7 months to 40 years, with a sex ratio of M/F 2:1. The Food Neophobia Scale (FNS) was used to determine neophobia. We used JASP (version 0.18.1) statistical analysis to examine the relationship between neophobia and PKU condition, age and nutritional status at the time of study, diet compliance, parental educational level, period from birth to PKU diagnosis, and environmental (rural/urban) provenience of PKU patients. According to the data, 61.76% of patients with PKU were neophobic, as were 70.57% of the control group. Food neophobia was associated with PKU patients' present age, the period from birth to PKU diagnosis, and parental educational level.


Assuntos
Fenilcetonúrias , Criança , Humanos , Estudos Transversais , Prevalência , Comportamento Alimentar , Fenilalanina
13.
Life (Basel) ; 13(10)2023 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-37895421

RESUMO

Celiac disease (CD) is an immune-mediated enteropathy caused by exposure to gluten and related prolamins in genetically susceptible individuals. It is a complex genetic disorder with multiple contributing genes. Linkage studies have identified several genomic regions that probably contain CD susceptibility genes. The most important genetic factors are HLA-DQ2 and DQ8. Several known environmental triggers promote the onset of CD at any age after gluten introduction in individuals with a genetic background, such as viral infections and intestinal dysbiosis. Recent publications have described the interference of the intestinal microbiome in gluten metabolism, modulation of local immune reactions, and in maintaining normal gut permeability. These results have promoted further lines of research on the benefit of probiotic administration to prevent disease onset or alleviate clinical symptoms along with a gluten-free diet (GFD). The relationship between gut microbiome changes and the onset of CD is incompletely understood, still being the subject of current research. This narrative review analyzes the interplay between environmental factors, intestinal microbiome alterations, and the course of CD. Furthermore, this review sets out to discuss if modulation of intestinal microflora with pre- and probiotics along with a GFD could represent a reliable therapeutic target for celiac patients.

14.
Front Pediatr ; 11: 1157689, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37063670

RESUMO

Background: Pregnancy represents a state of increased oxidative stress and antioxidants, in which selenium (Se) plays a pivotal role, contribute to maintain the oxidative balance. If antioxidant defenses are depleted, placental function is disrupted, resulting in pregnancy complications, including pregnancy-induced hypertension (PIH). Little is known about fetal selenium status in concomitant relation to maternal PIH, gestational age (GA) and birthweight (BW). Methods: We examined over a 3-year period the serum (SeS) and urine selenium (SeU) status in term neonates from normotensive (nonPIH) and hypertensive (PIH) mothers as clinical markers of oxidative stress. In this retrospective observational study, 72 neonates with maternal PIH were matched for GA and BW to 72 neonates of normotensive mothers. Four groups were obtained, based on maternal PIH and BW relative to GA (appropriate-for-gestational-age-AGA, small-for-gestational-age-SGA): nonPIH-AGA (control group), nonPIH-SGA, PIH-AGA, and PIH-SGA. Results: The results showed significant differences (p < 0.001) in selenium levels among the study groups: SeS - 44.85 ± 7.56 µg/L in nonPIH-AGA, 39.62 ± 11.42 µg/L in nonPIH-SGA, 40.01 ± 10.07 µg/L in PIH-AGA, and 25.39 ± 8.99 µg/L in PIH-SGA; SeU - 27.98 ± 7.99 µg/L in nonPIH-AGA, 22.85 ± 9.48 µg/L in nonPIH-SGA, 23.44 ± 6.73 µg/L in PIH-AGA, and 13.05 ± 5.86 µg/L in PIH-SGA. Selenium depletion was more common in neonates born from hypertensive mothers and those born small for gestational age. Though moderate in intensity, selenium levels were positively correlated with BW (0.319 for SeS, 0.397 for SeU) and negatively correlated with maternal systolic blood pressure (-0.313 for SeS, -0.324 for SeU). The main independent effects on SeS and SeU of each maternal blood pressure and birth weight turned out statistically significant. In interaction, a more pronounced effect was reached in PIH-SGA neonates. Conclusion: Selenium status seemed to reflect the negative impact that PIH exerts in neonates during intrauterine development. Clinical markers of selenium status could thus be of great value for tracking responses of individuals to selenium supplementation as part of health improvement and harm mitigation approaches.

15.
Biomedicines ; 11(11)2023 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-38001976

RESUMO

Diabetic ketoacidosis (DKA), a common onset modality of type 1 diabetes mellitus (T1DM), can lead, in rare instances, to the development of cerebral edema, which is the leading cause of mortality in T1DM. Aside from the identification of several demographic and clinical risk factors for cerebral edema, attention has also been drawn to the possible link between systemic inflammation and neuroinflammation. This single-center retrospective study of 98 children with severe DKA aimed to investigate the possible relationship between neutrophil-to-lymphocyte ratio NLR) levels and the presence of cerebral edema. Patients were classified into three groups: alert (n = 28), subclinical cerebral edema (n = 59), and overt cerebral edema (n = 11). Lower blood pH and elevated NLR and blood urea were correlated with the presence of cerebral edema (p < 0.001). After a multivariable risk adjustment for possible confounding factors, such as age, pH, corrected sodium, and BUN, the NLR remained positively associated with cerebral edema (p = 0.045). As such, NLR may be an additional instrument to help practitioners target patients with a higher risk of severe cerebral edema. These patients would benefit from more rigorous neurologic surveillance, enabling the prompt identification of early signs of cerebral edema.

16.
Front Endocrinol (Lausanne) ; 14: 1150323, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37251677

RESUMO

Prader-Willi syndrome (PWS, OMIM176270) is a rare genetic disorder with recognizable dysmorphic features and multisystemic consequences such as endocrine, neurocognitive and metabolic ones. Although most patients with Prader-Willi syndrome exhibit hypogonadotropic hypogonadism, there is variability regarding sexual maturation, with precocious puberty occurring in rare cases. Our aim is to elaborate a thorough review of Prader-Willi patients with central precocious puberty, in order to raise awareness of such cases and to enhance our knowledge regarding the diagnosis and prompt treatment of this particular PWS patients.


Assuntos
Hipogonadismo , Síndrome de Prader-Willi , Puberdade Precoce , Humanos , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/diagnóstico , Puberdade Precoce/diagnóstico , Puberdade Precoce/etiologia , Maturidade Sexual , Hipogonadismo/complicações , Hipogonadismo/diagnóstico , Conhecimento
17.
Children (Basel) ; 10(10)2023 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-37892278

RESUMO

Sepsis represents one of the leading causes of death in newborns and infants, and prompt diagnosis is essential for achieving favorable outcomes. Regarding malnourished children with concurrent infection, most studies have focused, besides blood culture, on C-reactive protein and procalcitonin. Because malnutrition has a deleterious effect on cellular immune competence, the present study characterized the acute-phase response, including hematological indices, in response to sepsis. Among the examined laboratory biomarkers, procalcitonin and neutrophil-to-lymphocyte ratio were the most accurate discriminators between sepsis patients and those with bacterial infection. Moreover, these two parameters showed a gradual increase between sepsis, severe sepsis, and septic shock patients (p < 0.001). Subgroup analysis of the sepsis group revealed positive correlations of NLR with prolonged ICU stay (<0.001), acute organ dysfunction (0.038), mechanical ventilation (<0.001), and fatality (<0.001). In summary, our results suggest that the neutrophil-to-lymphocyte ratio can be used as an auxiliary diagnostic index in discriminating the presence and severity of bacterial sepsis in malnourished infants.

18.
Children (Basel) ; 10(10)2023 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-37892364

RESUMO

Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in SLC34A1 and CYP24A1 genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes.

19.
Life (Basel) ; 13(10)2023 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-37895355

RESUMO

VIPomas are a type of neuroendocrine tumor that independently produces vasoactive intestinal peptide (VIP). VIPomas causing watery diarrhea, hypokalemia, and achlorhydria (WDHA) syndrome are not frequently observed in adult patients without pancreatic ailments. However, in children, the occurrence of a VIPoma originating in the pancreas is exceedingly uncommon. Instead, WDHA syndrome is more commonly associated with neurogenic tumors that secrete VIP, often located in the retroperitoneum or mediastinum. Among infants, chronic diarrhea is a prevalent issue that often necessitates the attention of pediatric gastroenterologists. The underlying causes are diverse, and delays in arriving at a definitive diagnosis can give rise to complications affecting the overall well-being of the child. The authors present the case of an infant with chronic watery diarrhea, subocclusion manifestations, mild hypokalemia, and metabolic hyperchloremic acidosis secondary to a VIPoma in the retroperitoneum that was diagnosed via abdominal ultrasound and tomography. The laboratory results revealed lowered potassium levels and an excessive secretion of VIP. Following the surgical removal of the tumor, the diarrhea resolved, and both electrolyte levels and the imbalanced hormone levels returned to normal. Immunohistochemical examination confirmed the diagnosis of ganglioneuroblastoma, with N-MYC negative on molecular biology tests. We present the clinical and histo-genetic aspects of this rare clinical entity, with a literature review.

20.
Biomedicines ; 12(1)2023 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-38255172

RESUMO

In pediatric care, the range of potential diagnoses for arthritis can be relatively extensive, primarily involving infectious and inflammatory causes and, to a lesser extent, oncological conditions. Specifically, when addressing inflammatory causes, differentiating between Juvenile Idiopathic Arthritis (JIA) and Reactive Arthritis (ReA) can prove to be challenging during the first weeks, owing to the lack of specific antibodies in several JIA subtypes. This single-center retrospective study of 108 children with arthritis aimed to evaluate in greater detail the complete blood count (CBC) profiles of children with JIA and ReA in greater detail. The most significant differences were noted in terms of the Systemic Immune-Inflammation Index (SII), with higher values in the JIA group. Moreover, within the JIA group, SII displayed a significant positive correlation with conventional inflammatory biomarkers, specifically C-reactive protein (ρ = 0.579) and Erythrocyte Sedimentation Rate (ρ = 0.430). It was the only independent factor associated with the presence of JIA after adjusting for age (p = 0.030). Also, even with the moderate diagnostic value, the discriminating capacity of SII was superior to those of each of its component CBC parameters according to receiver operating characteristic (ROC) analysis. In summary, this study identified elevated SII values in the JIA group compared to the ReA group, indicating the potential utility of SII as an adjuvant discriminatory marker between these two arthritis forms.

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