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Screening salivare della malattia celiaca in bambini e adolescenti geneticamente predisposti
Full text linkIntroduzione: La celiachia (CD) è un disordine multifattoriale in cui il test genetico è di rilevanza clinica fondamentale. La malattia, infatti, solo raramente si sviluppa in assenza di aplotipi HLA-DQ2 e/o HLA-DQ8. Il quadro clinico della CD è estremamente variabile e, spesso, i pazienti sono asintomatici; pertanto, è di fondamentale importanza un intervento di prevenzione mirato alla diagnosi precoce di malattia nei soggetti a rischio.
Obiettivo: Screening salivare mediante determinazione degli anticorpi anti-transglutaminasi IgA (TGA-IgA) con metodica radioimmunologica (RIA) per la diagnosi precoce di CD in una coorte di soggetti geneticamente predisposti.
Metodi: Sono stati arruolati 883 bambini frequentanti due scuole primarie del Comune di Roma e 91 familiari di I grado di pazienti celiaci seguiti presso l’ambulatorio di Gastroenterologia Pediatrica del Policlinico Umberto I. 289 scolari e 70 familiari sono risultati geneticamente predisposti. 359 campioni di saliva sono stati raccolti e analizzati per il dosaggio dei TGA IgA con metodo RIA; contestualmente sono stati raccolti 359 campioni di siero per la determinazione dei TGA-IgA con metodo RIA ed ELISA. I bambini con TGA-IgA positivi sono stati successivamente inseriti nell’iter diagnostico previsto dalle Linee Guida ESPGHAN 2020. La sensibilità e la specificità di entrambe le metodiche sono state calcolate confrontando i risultati con le diagnosi eseguite secondo i criteri EPSGHAN 2020. Il test salivare è stato confrontato con la metodica ELISA su siero mediante l’utilizzo del test di Mc Nemar.
Risultati: In una prima fase dello studio sono stati arruolati 359 soggetti geneticamente predisposti. Di questi, 19 bambini (5.3%) sono risultati positivi al test salivare: 16 bambini (84.2%) sono stati confermati alla determinazione sierologica con metodo RIA ed ELISA ed hanno ricevuto la diagnosi di CD; in particolare, 9 hanno mostrato valori di anticorpi TGA-IgA superiori di 10x il range di riferimento e anti-endomisio (EMA) positivi, mentre i restanti 7 bambini con valori inferiori a 10x sono stati sottoposti ad esofagogastroduodenoscopia (EGDS) che ha mostrato le tipiche lesioni istologiche. Un bambino (5.3%) con screening salivare positivo confermato con metodica RIA sul siero, ma con anticorpi negativi con ELISA è stato sottoposto ad EGDS che ha confermato la diagnosi. 2 bambini (10.5%) con valori salivari debolmente positivi non si sono confermati sul siero con entrambi i metodi e non hanno proseguito il follow-up.
Due dei 340 bambini (0.6%) con screening salivare negativo hanno mostrato valori sierici positivi con metodo RIA ed ELISA e hanno ricevuto la conferma istologica di CD. I restanti 338 bambini (99.4%) negativi al test salivare si sono confermati negativi alle determinazioni sierologiche con entrambi i metodi.
Il test salivare con metodo RIA ha mostrato una sensibilità pari a 94.4% (IC 95% 0.914-0.965) e una specificità pari a 99.4% (IC 95% 0.977-0.999); la sensibilità e specificità del metodo RIA su siero sono state del 100% (IC 95% 0.987-1); quelle del metodo ELISA sono state rispettivamente del 94.7% (IC 95% 0.918-0.967) e 100% (IC 95% 0.987-1). Il test di Mc Nemar ha mostrato la completa sovrapponibilità dei due test in esame (p=1).
Conclusioni: La metodica RIA su saliva ha mostrato risultati sovrapponibili a quelli ottenuti su siero con metodica ELISA; potrebbe rappresentare pertanto un valido test di screening affidabile, semplice, riproducibile, economico e non invasivo. Insieme al kit Gene Celiac Screen, anch’esso poco invasivo, di facile utilizzo ed economico, potrebbe essere inserita in una strategia di screening di massa per la celiachia
Autonomic imbalance during apneic episodes in pediatric obstructive sleep apnea
No full textOBJECTIVES: To investigate the activity of the autonomic nervous system (ANS) during sleep in children with obstructive sleep apnea (OSA), in order to detect a possible cardiac ANS imbalance analyzing heart rate variability (HRV).
METHODS:
43 subjects between 4 and 12years of age (7.26±2.8years), undergoing a diagnostic assessment for OSA were evaluated. A time domain index (R-apnea index) was developed to evaluate HRV strictly related to obstructive events during sleep. Poincaré plot of RR intervals during the whole night was calculated.
RESULTS:
R-apnea index was negatively correlated with apnea hypopnea index (AHI) (r=-0.360, p=0.028). AHI and the duration of the disease were the only variables that were significantly correlated with R-apnea index. Three groups were subsequently created according to polysomnographic findings considering AHI. R-apnea index resulted significantly lower in patient with severe OSA compared to primary snoring/mild OSA subjects (p<0.05). Looking at Poincaré plot, SD1 showed a diminishing trend with severity of OSA, however not reaching statistical significance.
CONCLUSIONS:
Our findings suggest an autonomic impairment in OSA children evidenced by the altered HRV both in the very short term (R-apnea index) and in short term (SD1)
Increased GLP-1 response to oral glucose in pre-pubertal obese children
No full textBACKGROUND: Gastrointestinal hormones, such as glucagon-like peptide (GLP-1), have been hypothesized to play a role in the pathogenesis of obesity-related complications. However, few data are available in youth. The objective of this study was to investigate the GLP-1 response to oral glucose load in obese pre-pubertal children and its relationship with insulin secretion. METHODS: Ten pre-pubertal obese children [five boys; 10.5±1.6 years; body mass index-standard deviation score (BMI-SDS): 2.2±0.5] and 10 controls (eight boys; 9.9±1.2 years; BMI-SDS: -0.7±0.5) underwent a modified oral glucose tolerance test (OGTT) to evaluate post-load glucose, insulin and GLP-1 responses. Insulin sensitivity [homeostasis model assessment of insulin resistance (HOMA-IR), whole body insulin sensitivity index (WBISI)] and secretion [HOMA-beta, insulinogenic index (IGI)] indexes, area under the curve (AUC) for glucose, insulin and GLP-1 were calculated. RESULTS: In obese children GLP-1 AUC values were higher and correlated with BMI-SDS (r=0.45; p=0.04), HOMA-IR (r=0.53; p=0.01) and fasting glucose (r=0.68; p=0.001)
Celiac disease: New therapeutic options
No full textCeliac disease (CD) is an autoimmune pathology, caused by a permanent intolerance to gluten contained in wheat and to similar prolamines present in barley and rye. It is a common disease as its prevalence, in Caucasian populations, is about 1-1.16%. There are several patterns of CD: symptomatic CD and silent CD, both characterized by typical histological lesions in the duodenum mucosa. The classic manifestation is distinguished by gastrointestinal symptoms such as diarrhoea, vomiting, abdominal distension and failure to thrive. On the other hand atypical forms are characterized by extraintestinal symptoms (anemia, low height, delayed puberty, headaches).The gluten-free diet for life is the only therapy currently available for CD. In this way it is ensured to coeliac patient a comparable growth and a state of health to that of a healthy subject. About 70% of the subjects respond with an improvement in symptoms within a few weeks from the start of the gluten-free diet, although histological healing is more delayed and not always complete. The ingestion of gluten in trace amounts can cause the persistence of enteric mucosal lesions. A recent study by Aziz et al. has shown that a large proportion of patients with celiac disease is not satisfied with the gluten-free diet.Considerable progress have been made regarding the biotechnology field, which led to a better understanding of the molecular mechanisms of coeliac disease and the identification of pathogenetic pathways that could be targeted by new drugs. We can distinguish different categories of drugs according to their mechanism of action:• Endopeptidases capable to detoxify gluten in order to decrease its immunogenic power.• Modulation of permeability by the pill AT-1001.• Block of antigen presentation made by inhibitors of TG2 and HLA-DQ2.• Inflammation modulation using monoclonal antibodies directed against inflammatory cytokines.• Block of the recruitment of lymphocytes by molecules that inhibit the migration to the intestinal mucosa.• Immunomodulation and induction of gluten tolerance. © 2013 Nova Science Publishers, Inc. All rights reserved
Diagnosis of pediatric obstructive sleep apnea syndrome in settings with limited resources
No full textImportance Although polysomnographic (PSG) testing is the gold standard for the diagnosis of obstructive sleep apnea syndrome (OSAS) in children, the number of pediatric sleep laboratories is limited. Developing new screeningmethods for identifying OSAS may reduce the need for PSG testing. Objective To evaluate the combined use of the sleep clinical record (SCR) and nocturnal oximetry testing for predicting PSG results in children with clinically suspected OSAS. Design, Setting, and Participants Prospective study over 10 months. A cohort of 268 consecutive children (mean [SD], age 6 [3] years) referred for clinically suspected OSAS was studied at a pediatric sleep center at a university hospital. Children with disorders other than adenotonsillar hypertrophy or obesity were excluded. Main Outcomes and Measures Mild OSAS (obstructive apnea-hypopnea index [AHI], 1-5 episodes/h) and moderate-to-severe OSAS (AHI, >5 episodes/h) were the main outcome measures. Sleep clinical record scores greater than or equal to6.5 were considered positive, as were McGill oximetry scores (MOS) greater than 1, and these positive scores were the main explanatory variables in our study. Each participant was evaluated by the SCR, followed by pulse oximetry test the first night and PSG test in the sleep laboratory the second night. Results Of the total participants, 236 (88.1%) were diagnosed with OSAS, 236 (88.1%) had a positive SCR score, and 50 (18.7%) had a positive MOS. Participants with positive SCR scores had significantly increased risk of an AHI greater than or equal to 1 (adjusted odds ratio [AOR], 9.3; 95%CI, 3.7-23.2; P < .001). Children with an MOS greater than 1 were significantly more likely to have an AHI greater than 5 episodes/h than children with an MOS equal to 1 (AOR, 26.5; 95%CI, 7.8-89.2; P < .001). A positive SCR score had satisfactory sensitivity (91.9%) and positive predictive value (91.9%) but limited specificity (40.6%) and negative predictive value (40.6%) for OSAS. An MOS greater than 1 had excellent specificity (97.4%) and positive predictive value (94%) but low sensitivity (39.2%) and fair negative predictive value (60.8%) for moderate-to-severe OSAS among children with a positive SCR score. The combination of SCR scores and MOS correctly predicted primary snoring, mild OSAS, or moderate-to-severe OSAS in 154 of 268 (57.4%) participants. Conclusions and Relevance The combined use of the SCR score and nocturnal oximetry results has moderate success in predicting sleep-disordered breathing severity when PSG testing is not an option
Oropharyngeal exercises to reduce symptoms of OSA after AT
No full textPurpose This study evaluated the efficacy of oropharyngeal exercises in children with symptoms of obstructive sleep apnea syndrome (OSA) after adenotonsillectomy. Methods Polysomnographic recordings were performed before adenotonsillectomy and 6 months after surgery. Patients with residual OSA (apnea-Hypopnea Index, AHI > 1 and persistence of respiratory symptoms) after adenotonsillectomy were randomized either to a group treated with oropharyngeal exercises (group 1) or to a control group (group 2). A morphofunctional evaluation with Glatzel and Rosenthal tests was performed before and after 2 months of exercises. All the subjects were re-evaluated after exercise through polysomnography and clinical evaluation. The improvement in OSA was defined by ΔAHI: (AHI at T1 - AHI at T2)/AHI at T1 × 100. Results Group 1 was composed of 14 subjects (mean age, 6.01 ± 1.55) while group 2 was composed of 13 subjects (mean age, 5.76 ± 0.82). The AHI was 16.79 ± 9.34 before adenotonsillectomy and 4.72 ± 3.04 after surgery (p < 0.001). The ΔAHI was significantly higher in group 1 (58.01 %; range from 40.51 to 75.51 %) than in group 2 (6.96 %; range from -23.04 to 36.96 %). Morphofunctional evaluation demonstrated a reduction in oral breathing (p = 0.002), positive Glatzel test (p < 0.05), positive Rosenthal test (p < 0.05), and increased labial seal (p < 0.001), and lip tone (p < 0.05). Conclusions Oropharyngeal exercises may be considered as complementary therapy to adenotonsillectomy to effectively treat pediatric OSA. © 2014 Springer-Verlag Berlin Heidelberg
Use of the sleep clinical record in the follow-up of children with obstructive sleep apnea (OSA) after treatment
No full textThe aim of our study was to evaluate the utility of the sleep clinical record (SCR) in the follow-up of children with obstructive sleep apnea (OSA) after treatment
Rapid maxillary expansion outcomes in treatment of obstructive sleep apnea in children
No full textObjectives: Theobjectivesofthisstudyweretoconfirmtheefficacyofrapidmaxillaryexpansioninchildren withmoderateadenotonsillarhypertrophyinalargersampleandtoevaluateretrospectivelyitslong-term benefits in a group of children who underwent orthodontic treatment 10 years ago. Methods: After general clinical examination and overnight polysomnography, all eligible children underwent cephalometric evaluation and started 12 months of therapy with rapid maxillary expansion. Anewpolysomnographywasperformedattheendoftreatment(T1).Fourteenchildrenunderwentclinical evaluation and Brouilette questionnaire, 10 years after the end of treatment (T2). Results: Forty patients were eligible for recruitment. At T1, 34/40 (85%) patients showed a decrease of apnea–hypopneaindex(AHI)greaterthan20%(ΔAHI67.45%±25.73%)andweredefinedresponders.Only 6/40 (15%) showed a decrease <20% of AHI at T1 and were defined as non-responders (ΔAHI −53.47%±61.57%).Moreover,57.5%ofpatientspresentedresidualOSA(AHI>1ev/h)aftertreatment.Disease duration was significantly lower (2.5±1.4 years vs 4.8±1.9 years, p<0.005) and age at disease onset was higher in responder patients compared to non-responders (3.8±1.5 years vs 2.3±1.9 years, p<0.05). Cephalometric variables showed an increase of cranial base angle in non-responder patients (p<0.05). Fourteen children (mean age 17.0±1.9 years) who ended orthodontic treatment 10 years previously showed improvement of Brouilette score. Conclusion: Starting an orthodontic treatment as early as symptoms appear is important in order to increase the efficacy of treatment. An integrated therapy is needed
Cognitive function in preschool children with sleep-disordered breathing
No full textPURPOSE: The purposes of this study were to assess cognitive functions in preschool children with sleep-disordered breathing (SDB) and to compare them with matched control children.
METHODS:
A clinical sample of 2.5- to 6-year-old children with SDB was recruited. All children underwent sleep clinical record (SCR), which is a polysomnography (PSG)-validated questionnaire for diagnosing SDB, a polysomnography and a neurocognitive assessment. Normal controls were recruited from a kindergarten. They underwent the SCR and the cognitive assessment.
RESULTS:
We studied 41 children with primary snoring (PS)-mild obstructive sleep apnea syndrome (OSAS; M/F = 15/26, mean age 4.43 ± 0.94), 36 children with moderate-severe OSAS (M/F = 22/14, mean age 4.33 ± 1.02), and 83 controls (M/F = 33/50, mean age 4.5 ± 0.64). In the two groups, no differences were found in duration and age of onset of SDB, while a significant difference emerged in SCR score (p < 0.005). No differences emerged in the three groups in Verbal IQ, Performance IQ, and Global IQ scores, nor in any cognitive subtests.
CONCLUSIONS:
We demonstrated that SDB of all severities is not associated with cognitive impairment compared to the control group in preschool age
SURGICAL AND NON-SURGICAL THERAPY OF OBSTRUCTIVE SLEEP APNEA SYNDROME IN CHILDREN.
No full textInterventions of paediatric obstructive sleep apnea syndrome are complex, varied and multidisciplinary. The goal of the treatment is to restore optimal breathing during the night and to relieve associated symptoms. Evidence suggests that the surgical intervention with removal of the tonsils and adenoids will lead to significant improvements in the most incomplicated cases, as recently reported from a meta-analysis. However, post-operative persistence of this syndrome in paediatric population is more frequent than expected, which supports the idea of the complexity of this syndrome. Adenotomy alone may not be sufficient in children with OSAS, because it does not address oropharyngeal obstruction secondary to tonsillar hyperplasia. Continuous positive airway pressure can effectively treat this syndrome in selected groups of children, improving both nocturnal and daytime symptoms, but poor adherence is a limiting factor. For this reason, CPAP is not recommended as first-line therapy for OSAS when adenotonsillectomy is an option. It is now being investigated the incorporation of nonsurgical approaches for milder forms and for residual OSAS after surgical intervention. Althought adeno-tonsillar hypertrophy is the most common for OSAS in children; obesity is emerging as an equally important etiological factor. Therefore an intensive weight reduction program and adequate sleep hygiene are also important lifestyle changes that may be very effective in mitigating the symptoms of this syndrome. Pharmacological therapy (leukotriene antagonists, topical nasal steroids) is usually use for mild forms of OSAS and in children with associated allergic diseases. Special orthodontic treatment and oropharyngeal exercises are a relatively new and promising alternative therapeutic modality used in selected groups of children with OSAS
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