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1.
Clin Chem Lab Med ; 62(8): 1643-1648, 2024 Jul 26.
Article in English | MEDLINE | ID: mdl-38353160

ABSTRACT

OBJECTIVES: Early sepsis detection and diagnosis still constitutes an open issue since the accuracy of standard-of care parameters is biased by a series of perinatal factors including hypoxia. Therefore, we aimed at investigating the effect of fetal chronic hypoxia insult on urine levels of a promising new marker of sepsis, namely presepsin (P-SEP). METHODS: We conducted a prospective case-control study in 22 cases of early-intrauterine growth restriction (E-IUGR) compared with 22 small-for-gestational-age (SGA) newborns and 66 healthy controls. P-SEP urine samples were collected over the first 72 h from birth. Blood culture and C-reactive protein (CRP) blood levels were measured in E-IUGR and SGA infants. Perinatal standard monitoring parameters and main outcomes were also recorded. RESULTS: No significant urinary P-SEP differences (p>0.05, for all) were observed among studied groups. Moreover, no significant correlations (p>0.05, for both) between urinary P-SEP and blood CRP levels in both E-IUGR and SGA groups (R=0.08; R=0.07, respectively) were observed. CONCLUSIONS: The present results showing the lack of influence of fetal chronic hypoxia on urinary P-SEP levels offer additional data to hypothesize the possible use of urinary P-SEP measurement in neonates in daily clinical practice. Further multicenter prospective data are needed, including infants with early-onset sepsis.


Subject(s)
Lipopolysaccharide Receptors , Peptide Fragments , Humans , Infant, Newborn , Female , Case-Control Studies , Prospective Studies , Peptide Fragments/urine , Peptide Fragments/blood , Male , Pregnancy , Fetal Hypoxia/urine , Fetal Hypoxia/diagnosis , Fetal Hypoxia/blood , C-Reactive Protein/analysis , Biomarkers/urine , Biomarkers/blood , Infant, Small for Gestational Age , Fetal Growth Retardation/urine , Fetal Growth Retardation/diagnosis , Fetal Growth Retardation/blood , Sepsis/urine , Sepsis/diagnosis , Sepsis/blood
2.
Clin Chem Lab Med ; 60(8): 1136-1144, 2022 07 26.
Article in English | MEDLINE | ID: mdl-35562321

ABSTRACT

Perinatal sepsis constitutes a medical emergency and is still one of the major causes of mortality and morbidity. The possibility of an early diagnosis of sepsis is still debated and controversial. In particular, clinical symptoms can be hidden by the association of sepsis with other perinatal diseases and/or by therapeutic strategies performed. In this context, there is evidence that the accuracy of standard of care diagnostic parameters (i.e. blood culture, C-reactive protein, procalcitonin) can be biased by additional confounding factors (gestational age, birth-weight, acute-chronic hypoxia). Therefore, the inclusion in clinical daily practice of new biomarkers of sepsis is of utmost importance. Of a panel of biomarkers, Presepsin (P-SEP) plays an important role in the development and response of the immune system and as an early marker of sepsis both in adult and pediatric patients. Therefore, in the present review we aim to offer an overview of the role of P-SEP in the early detection of perinatal sepsis as a trustworthy marker according to actual statements of official international institutions. Future perspectives regard the possibility of a longitudinal non-invasive biological fluids P-SEP assessment thus limiting the sample stress in high risk newborns.


Subject(s)
Infant, Newborn, Diseases , Sepsis , Adult , Biomarkers , C-Reactive Protein/analysis , Child , Female , Humans , Infant, Newborn , Lipopolysaccharide Receptors , Peptide Fragments , Pregnancy , Procalcitonin , Sepsis/diagnosis
3.
J Rheumatol ; 40(6): 943-8, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23547210

ABSTRACT

OBJECTIVE: To investigate the effect of 1-year treatment with the anti-tumor necrosis factor-α (TNF-α) drug etanercept on lipid profile and oxidative stress in children and adolescents with juvenile idiopathic arthritis (JIA). METHODS: Thirty children with JIA (22 females; mean age 12.3 ± SD 5.7 yrs), all eligible for anti-TNF-α treatment, were assessed at baseline and after 6- and 12-month treatment with etanercept. Disease activity was determined using the Juvenile Arthritis Disease Activity Score (JADAS). Blood samples were drawn to measure the acute-phase reactants C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR), lipids, and the proinflammatory cytokines TNF-α, interleukin-1ß (IL-1ß), IL-6 and interferon-γ. To measure the oxidative stress marker 8-iso-prostaglandin F2α, 24-h urine samples were collected. RESULTS: Inflammatory indicators (CRP and ESR) and JADAS scores improved significantly after 1 year of etanercept treatment (all p < 0.001). Proinflammatory cytokines showed significant reduction during the study period (all p < 0.001). Similar reductions were detected in total cholesterol (p < 0.001), low-density lipoprotein cholesterol (p = 0.04), and triglycerides (p < 0.001), whereas no significant change was found in high-density lipoprotein cholesterol. No side effects were observed during the treatment period. CONCLUSION: This study shows for the first time that anti-TNF-α therapy for JIA is associated not only with a beneficial effect on clinical disease activity and inflammatory indexes, but also with improved lipid profile and oxidative stress. These findings suggest that TNF-α blockers might reduce atherosclerotic risk in children with JIA.


Subject(s)
Antirheumatic Agents/therapeutic use , Arthritis, Juvenile/drug therapy , Immunoglobulin G/therapeutic use , Lipids/blood , Oxidative Stress/drug effects , Receptors, Tumor Necrosis Factor/therapeutic use , Acute-Phase Proteins/metabolism , Adolescent , Antirheumatic Agents/pharmacology , Arthritis, Juvenile/metabolism , C-Reactive Protein/metabolism , Child , Cytokines/blood , Etanercept , Female , Humans , Immunoglobulin G/pharmacology , Male , Tumor Necrosis Factor-alpha/antagonists & inhibitors
4.
Headache ; 51(3): 447-450, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21352219

ABSTRACT

Hemiplegic migraine is a rare form of migraine characterized by periodic attacks of migraine with neurologic aura and transient hemiplegia. There are familial and sporadic cases, both on a genetic basis; we describe the case of a 6-year-old boy affected by sporadic hemiplegic migraine, showing a novel ATP1A2 gene missense mutation (p.Gly715Arg) in exon 16. Long-term treatment with flunarizine resulted in good clinical response and prevention of further attacks.


Subject(s)
Hemiplegia/genetics , Migraine with Aura/genetics , Mutation, Missense/genetics , Sodium-Potassium-Exchanging ATPase/genetics , Anticonvulsants/therapeutic use , Child , Flunarizine/therapeutic use , Humans , Migraine with Aura/diagnosis , Migraine with Aura/drug therapy , Treatment Outcome
5.
Eur J Pediatr ; 170(2): 157-67, 2011 Feb.
Article in English | MEDLINE | ID: mdl-20556424

ABSTRACT

Advances in understanding the pathogenesis of rheumatic diseases have led to the discovery of mechanisms of inflammation and autoimmunity and have made possible the invention of new target-specific drugs. Biologic drugs, designed to inhibit specific components of the immune system, such as cytokines, cytokine gene expression, and their complex interactions, have revolutionized the treatment options in pediatric rheumatology. Only three agents are currently available for treating juvenile idiopathic arthritis (JIA): etanercept, at the dose of 0.8 mg/kg once weekly, adalimumab at the dose of 24 mg/m(2) every 2 weeks, and abatacept at the dose of 10 mg/kg at weeks 0, 2, 4, and then every 4 weeks. They are well tolerated and relatively safe in children: Side effects are generally mild and include injection site reactions and infections. Infliximab, rilonacept, and canakinumab are also approved by the Food and Drug Administration for treatment of pediatric autoimmune disorders and are currently investigated in JIA. This review summarizes the current state of biologic drugs, their clinical application, and their efficacy and safety in the pediatric age.


Subject(s)
Antibodies, Monoclonal/administration & dosage , Antirheumatic Agents/administration & dosage , Autoimmune Diseases/therapy , Biological Products/administration & dosage , Antibodies, Monoclonal/adverse effects , Antirheumatic Agents/adverse effects , Arthritis, Juvenile/therapy , Autoimmune Diseases/immunology , Biological Products/adverse effects , Child , Humans , Treatment Outcome
6.
Ital J Pediatr ; 36: 57, 2010 Sep 03.
Article in English | MEDLINE | ID: mdl-20813071

ABSTRACT

During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis and treatment of these diseases.


Subject(s)
Autoimmunity/immunology , Glucocorticoids/therapeutic use , Hereditary Autoinflammatory Diseases , Immunosuppressive Agents/therapeutic use , Tonsillectomy/methods , Child , Diagnosis, Differential , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/immunology , Hereditary Autoinflammatory Diseases/therapy , Humans , Prognosis , Syndrome
7.
Semin Arthritis Rheum ; 40(1): 53-72, 2010 Aug.
Article in English | MEDLINE | ID: mdl-19246077

ABSTRACT

OBJECTIVES: We reviewed the literature to evaluate the role of common laboratory tests and to examine the recent progress in the laboratory diagnosis of pediatric rheumatic diseases. METHODS: We used the PubMed database (1950-2008) to search for the keywords "laboratory," "erythrocyte sedimentation rate" (ESR), "C-reactive protein" (CRP), "blood cytology," "procalcitonin" (PCT), "complement system," "ferritin," "antistreptolysin O titer" (ASO), "autoantibodies," "genetic studies," in conjunction with "rheumatic disease in children" and "pediatric autoimmune diseases." All relevant original and review articles in English were reviewed as well as textbooks of pediatric rheumatology. RESULTS: Laboratory tests (ESR, CRP, blood cytology, complement system, ferritin, ASO titer) play an important role in confirming a diagnosis and in the follow-up of rheumatic diseases in the pediatric age group. The ESR is probably the most widely measured index of the acute phase response. Measurement of CRP is very useful in the rapid diagnosis of infection as a progressive increase can be shown in the first 48 hours. Also, the subsequent fall in serum CRP concentration on resolution of inflammation is useful for monitoring the efficacy of treatment. In chronic diseases, a combination of CRP and ESR may provide the most useful information. Cytopenia and different forms of anemia can be encountered in many rheumatic diseases: they can be related to disease activity or to therapeutic side effects. Determination of complement levels (C3 and/or C4) is useful in the follow-up of systemic lupus erythematosus (SLE) and membranoproliferative glomerulonephritis. Ferritin is a laboratory hallmark of primary and secondary hemophagocytic lymphohistiocytosis. ASO titer should be obtained to confirm a diagnosis of acute rheumatic fever; other important antibody markers of streptococcal infection include antihyaluronidase, antideoxyribonuclease B, and antistreptokinase antibodies. We also found that, in the pediatric age, the main indication for synovial fluid analysis is suspected joint infection. Antinuclear antibodies, anti-Smith antigen, and anti-double-stranded DNA antibodies are important in the diagnosis of SLE, are useful prognostic markers, and facilitate clinical and treatment follow-up. Anti-SSA/Ro and anti-SSB/La antibodies are associated with Sjögren's syndrome and congenital heart block, while the anti-U1 small nuclear ribonucleoprotein antibodies show high specificity for mixed connective tissue disease. Repetitive spontaneous abortions, thrombocytopenia, and many types of venous or arterial thrombosis are associated with antiphospholipid antibodies. The presence of cytoplasmic antineutrophil antibodies is essential in the diagnosis of Wegener granulomatosis. The discovery of underlying single causative gene defects led to the identification of several autoinflammatory diseases, a group of genetic disorders characterized by recurrent attacks of inflammation (hereditary periodic fever syndromes). These include familial Mediterranean fever due to mutations in the Mediterranean fever (MEFV) gene, hyperimmunoglobulinemia D syndrome due to mutations in the MK gene for mevalonate kinase, cryopyrinopathies such as Muckle-Wells syndrome or neonatal-onset multisystemic inflammatory disease (neonatal-onset multisystemic inflammatory disease or chronic infantile neurological cutaneous and articular (CINCA)) associated with cold-induced autoinflammatory syndrome 1 gene mutations, and tumor necrosis factor receptor-associated periodic syndrome due to mutation of TNF receptor I gene. CONCLUSIONS: Laboratory investigations play an important role in the diagnosis and follow-up of inflammatory rheumatic diseases in children. A good history and a complete physical examination are the best screening tests. Routine laboratory tests are useful to confirm a suspected diagnosis, to assess disease activity, and to measure the response and toxicity to treatment. Only a few tests represent diagnostic criteria such as antinuclear antibodies and anti-double-stranded DNA in SLE or cytoplasmic antineutrophil cytoplasmic autoantibodies in Wegener's granulomatosis. Recent advances in molecular genetics have impacted diagnosis, pathogenesis, and treatment in genetic fever syndromes.


Subject(s)
Biomarkers/blood , Clinical Laboratory Techniques , Rheumatic Diseases/blood , Rheumatic Diseases/diagnosis , Child , Diagnosis, Differential , Disease Progression , Follow-Up Studies , Humans , Prognosis
8.
Rheumatol Int ; 29(12): 1487-9, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19156420

ABSTRACT

Non-tuberculous mycobacteria (NTM) are an unusual cause of osteomyelitis in immunocompetent children. Diagnosis is often difficult due to the paucity of clinical symptoms and a subtle course of the disease. NTM comprise a group of about 91 identified species of environmental mycobacteria that cause infections most frequently in immunocompromised individuals or in patients with predisposing factors. Cervical lymphadenitis is the most common presentation of NTM infection in children. Invasive and recurrent infections with these organisms have been associated with a genetic defect of the interferon gamma-receptor. We report a 3-year-old immunocompetent girl who presented a NTM osteomyelitis of the left femur. Four months before she had been treated with medical and surgical therapy for a mycobacterium avium complex cervical lymphadenitis. Polymerase chain reaction assay on bone aspirate specimens confirmed the diagnosis of mycobacterium avium osteomyelitis. The patient was treated successfully with clarithromycin and rifampicin for 6 months.


Subject(s)
Arthralgia/etiology , Immunocompetence , Mycobacterium avium-intracellulare Infection/complications , Mycobacterium avium-intracellulare Infection/diagnosis , Osteomyelitis/diagnosis , Osteomyelitis/microbiology , Anti-Bacterial Agents/therapeutic use , Arthralgia/microbiology , Child, Preschool , Clarithromycin/therapeutic use , Drug Therapy, Combination , Female , Humans , Mycobacterium avium Complex , Osteomyelitis/drug therapy , Rifampin/therapeutic use , Treatment Outcome
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