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Cerebral palsy (CP) is still the most common cause of disability developing in infancy. How such a complex disorder affects adult life raises important questions on the critical issues to consider and the most appropriate care pathway right from early childhood. We conducted a multicenter study on a sample of 109 individuals with CP followed up from infancy and recalled for an assessment at ages ranging between 18 and 50 years (mean age 26 years). Semi-structured interviews and specific questionnaires (SF36, LIFE-H and Hollingshead Index) were conducted to assess general psychological state, quality of life, and socio-economic conditions. Our findings showed a globally positive perception of quality of life, albeit with lower scores for physical than for mental health. Our cases generally showed good scores on participation scales, though those with more severe forms scored lower on parameters such as mobility, autonomy, and self-care. These findings were investigated in more depth in interviews, in which our participants painted a picture showing that gradual improvements have been made in several aspects over the years, in the academic attainment and employment, for instance. On the downside, our sample reported persistent limitations on autonomy in daily life. As for the more profound psychological domain, there was evidence of suffering due to isolation and relational difficulties in most cases that had not emerged from the questionnaires. Our data have possible implications for the management of CP during childhood, suggesting the need to avoid an exclusive focus on motor function goals, and to promote strategies to facilitate communication, participation, autonomy, and social relations., (© 2021. Fondazione Società Italiana di Neurologia.)

Background  The aim of this study was to evaluate the association between red blood cell (RBC) transfusions on the risk of death, retinopathy of prematurity (ROP), bronchopulmonary dysplasia (BPD), and necrotizing enterocolitis (NEC) in very low birth weight (VLBW) infants. Study Design and Methods  This is an observational study. Data were entered prospectively into the study database at the time of the first transfusion. Clinical characteristics, adverse events, and outcomes of the patients transfused in the first 28 days of life were compared with the population of VLBW infants not transfused during the same period. The association among birth weight, gestational age, comorbidities, and the number of transfusions was estimated with a Poisson regression model. The association between the composite outcome and the occurrence of death, ROP, or BPD separately considered and a set of covariates was estimated with a logistic regression model. Results  We enrolled 641 VLBW infants, 42% of whom were transfused. Transfusions were associated with the risk of developing the composite outcome, independently from other conditions; this risk correlated with several transfusions ≥ 3 (odds ratio: 5.88, 95% confidence interval: 2.74-12.6). ROP and BPD were associated with several transfusions ≥ 3. Conclusion  We observed an association between RBC transfusions and the composite risk of death or ROP, BPD, and NEC., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Evolutionary transitions from parasitism toward beneficial or mutualistic associations may encompass a change from horizontal transmission to (strict) vertical transmission. Parasites with both vertical and horizontal transmission are amendable to study factors driving such transitions. In a long-term experiment, microcosm populations of the protozoan Paramecium caudatum and its bacterial parasite Holospora undulata were exposed to three growth treatments, manipulating vertical transmission opportunities over ca. 800 host generations. In inoculation tests, horizontal transmission propagules produced by parasites from a "high-growth" treatment, with elevated host division rates increasing levels of parasite vertical transmission, showed a near-complete loss of infectivity. A similar reduction was observed for parasites from a treatment alternating between high growth and low growth (i.e., low levels of population turn-over). Parasites from a low-growth treatment had the highest infectivity on all host genotypes tested. Our results complement previous findings of reduced investment in horizontal transmission and increased vertical transmissibility of high-growth parasites. We explain the loss of horizontal transmissibility by epidemiological feedbacks and resistance evolution, reducing the frequency of susceptible hosts in the population and thereby decreasing the selective advantage of horizontal transmission. This illustrates how environmental conditions may push parasites with a mixed transmission mode toward becoming vertically transmitted nonvirulent symbionts., (© 2015 The Author(s).)

Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D). The phenotype of the disease has been associated with several mutations in the WFS1 gene, a nuclear gene localized on chromosome 4. Since the discovery of the association between WFS1 gene and Wolfram syndrome, more than 150 mutations have been identified in WS patients. We previously described the first case of perinatal onset of Wolfram syndrome newborn carrying a segmental uniparental heterodysomy affecting the short arm of chromosome 4 responsible for a significant reduction in wolframin expression. Here we review and discuss the pathophysiological mechanisms that we believe responsible for the perinatal onset of Wolfram syndrome as these data strongly suggest a role for WFS1 gene in foetal and neonatal neurodevelopment., Case Presentation: We described a male patient of 30 weeks' gestation with intrauterine growth restriction and poly-hydramnios. During the first days of life, the patient showed a 19% weight loss associated with polyuria and hypernatremia. The presence of persistent hypernatremia (serum sodium 150 mEq/L), high plasma osmolarity (322 mOsm/L) and low urine osmolarity (190 mOsm/l) with a Uosm/Posm ratio < 1 were consistent with CDI. The diagnosis of CDI was confirmed by the desmopressin test and the brain magnetic resonance imaging (MRI) at 34 weeks of age, that showed the lack of posterior pituitary hyperintense signal. In addition, a bilateral asymmetrical optic nerve hypoplasia associated with right orbital bone hypoplasia was observed, suggesting the diagnosis of WF. During the five years follow-up the patient did not developed glucose intolerance or diabetes mellitus. By the end of the second year of life, primary non-autoimmune central hypothyroidism and mild neurodevelopment retardation were diagnosed., Conclusions: The analysis of our case, in the light of the most recent literature, suggests a possible role for WFS1 gene in the development of certain brain structures during the fetal period. Wolfram syndrome should be considered in the differential diagnosis of the rare cases of congenital central diabetes insipidus developed in the neonatal period.

Paramecium quadecaurelia is a rare species (previously known only from two locations) belonging to the P. aurelia species complex. In the present paper, fragments of an rDNA gene (ITS1-5.8S-ITS2-5' rDNA) and mtDNA genes (cytochrome oxidase subunit I and cytochrome b regions) were employed to assist in the identification and characterization of three new strains collected from Ecuador and Thailand. Molecular data were confirmed by mating reactions. In rDNA and mtDNA trees constructed for species of the P. aurelia complex, all P. quadecaurelia strains, including the three new strains discussed in this study and two known previously from Australia and Africa, form a monophyletic but differentiated clade. The present study shows that genetic differentiation among the strains of P. quadecaurelia is equal to or even greater than the distances between some other P. aurelia species, e.g., P. primaurelia and P. pentaurelia. Such great intra-specific differentiation may indicate a future splitting of the P. quadecaurelia species into reproductively isolated lines., (Copyright © 2012 Elsevier GmbH. All rights reserved.)

Objective: To evaluate the accuracy of clinical assessment of adenoidal obstruction based on a standardized score of the degree of mouth breathing and speech hyponasality (nasal obstruction index [NOI]) in comparison to nasal fiberoptic endoscopy., Study Design: Cross-sectional study with planned data collection., Setting: Outpatient clinics of the Departments of Maternal and Pediatric Sciences and Specialized Surgical Sciences, University of Milan, Italy., Subjects and Methods: Children aged three to 12 years with adenoidal obstruction suspected on the grounds of persistent/recurrent otitis media or perceived obstructive nasal breathing were eligible. Ear, nose, and throat examination, allergy testing, NOI measurement, and nasal fiberoptic endoscopy to assess the degree of adenoidal hypertrophy were performed. Agreement between the NOI and adenoidal hypertrophy grade was assessed in the patients as a whole and by clinical subgroups., Results: A total of 202 children were enrolled: 54.9 percent had otological diseases and 45.1 percent had perceived obstructive nasal breathing. Most of the children (79.2%) showed mild or moderate clinical nasal obstruction. Adenoidal hypertrophy ranged from no obstruction (18%) to severe obstruction (38%). There was no substantial agreement between the NOI and the degree of adenoidal obstruction in the population as a whole and in all the clinical subgroups. False positive findings were significantly more frequent among allergic children (50%) than non-allergic children (22.4%, P = 0.009)., Conclusion: Clinical assessment based on the NOI is incapable of accurately predicting the degree of adenoidal obstruction. In children with clinical nasal obstruction not explainable by adenoidal size, the clinician should consider, among causes of more anterior obstruction, nasal allergy., (Copyright 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.)

Background: Most cases of acute otitis media (AOM) follow an upper respiratory infection due to viruses, including influenza viruses. As effective and safe influenza vaccines are available, their use has been considered among the possible measures of AOM prophylaxis., Objectives: To evaluate the efficacy of an inactivated virosomal-adjuvanted influenza vaccine in preventing AOM in children with a history of noncomplicated recurrent AOM (rAOM) or rAOM complicated by spontaneous perforation., Methods: In this prospective, randomized, single-blinded, placebo-controlled study, 180 children aged 1 to 5 years with a history of rAOM and previously unvaccinated against influenza were randomized to receive the inactivated virosomal-adjuvanted subunit influenza vaccine (n = 90) or no treatment (n = 90), and AOM-related morbidity was monitored every 4 to 6 weeks for 6 months., Results: The number of children experiencing at least 1 AOM episode was significantly smaller in the vaccinated group (P < 0.001), as was the mean number of AOM episodes (P = 0.03), the mean number of AOM episodes without perforation (P < 0.001), and the mean number of antibiotic courses (P < 0.001); the mean duration of bilateral OME was significantly shorter (P = 0.03). The only factor that seemed to be associated with the significantly greater efficacy of influenza vaccine in preventing AOM was the absence of a history of recurrent perforation (crude odds ratio, P = 0.01; adjusted odds ratio, P = 0.006)., Conclusions: The intramuscular administration of injectable trivalent inactivated virosomal-adjuvanted influenza vaccine in children with a history of rAOM significantly reduces AOM-related morbidity. However, the efficacy of this preventive measure seems to be reduced in children with rAOM associated with repeated tympanic membrane perforation.

Objective: To evaluate the incidence and persistence of bacteremia in children undergoing adenoidectomy or adenotonsillectomy for different medical reasons., Methods: We enrolled 130 children scheduled for adenoidectomy because of recurrent acute otitis media (rAOM, 15) or persistent otitis media with effusion (pOME, 33), or for adenotonsillectomy because of obstructive sleep apnea syndrome (OSAS, 41) or recurrent tonsillopharyngitis (rTF, 41). Nasopharyngeal aspirates taken just before surgery, swabs of the ablated central adenoidal and tonsillar tissues, and blood samples taken within the first 30s of beginning the operation and 20min after its end were used for bacterial cultures., Results: The incidence of positive blood cultures after the beginning of the operation was significantly higher in the children who underwent adenotonsillectomy than in those who underwent adenoidectomy, and in those with rAOM or rTF than in those with pOME or OSAS. Children with nasopharyngeal colonisation were significantly more likely to have a positive blood culture than those without. Twenty of the 25 children with a positive blood culture (80.0%), had the same bacteria in their nasopharyngeal and adenoidal/tonsillar tissues., Conclusions: Our results show that bacteremia is significantly more frequently associated with adenotonsillectomy than with adenoidectomy, and significantly more frequent in patients with a history of rAOM or rTF.

The development of children who have syndromes with mental retardation and/or language delay can be worsened by sensorineural or conductive hearing loss (HL). Given the existing scarcity of data, we investigated the prevalence of otitis media with effusion and/or HL in 50 children with Cornelia de Lange syndrome (CdLS) aged 1-18 years, and its impact on the children's performance. The children underwent otological and audiological examinations in order to ascertain the relative frequencies of otitis media with effusion and/or hearing impairment; their demographic and clinical data were obtained by questionnaires and from information in their medical charts. Otitis media with effusion was diagnosed in 94%, and its prevalence was similar in all age groups; HL was detected in 40 children (80%). Conductive HL due to middle ear effusion was the main cause of hearing impairment alone (60%) or in combination with sensorineural deficit (20%). HL had a negative impact on performance regardless of the type. A history of routine audiological and/or otological assessments was reported by a minority of parents. Our findings indicate that otitis media with effusion and/or HL is an important feature of children with CdLS and may negatively affect their performance. Careful follow-up throughout childhood is necessary to detect and treat any hearing loss in children with CdLS in order to minimize its impact on performance.