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Acute rheumatic fever (ARF) is a non-septic complication of group A β-hemolytic streptococcal (GAS) throat infection. Since 1944, ARF diagnosis relies on the Jones criteria, which were periodically revised. The 2015 revision of Jones criteria underlines the importance of knowing the epidemiological status of its own region with updated data. This study aims to describe ARF features in a retrospective cohort retrieved over a 10-year timespan (2009-2018) and to report the annual incidence of ARF among children in the Province of Monza-Brianza, Lombardy, Italy during the same period. This is a multicentric cross-sectional/retrospective study; 70 patients (39 boys) were diagnosed with ARF. The median age at diagnosis was 8.5 years (range, 4-14.2 years). Overall, carditis represented the most reported major Jones criteria followed by arthritis and chorea (40, 27, and 20 cases, respectively). In order to calculate the annual incidence of ARF, only children resident in the Province of Monza-Brianza were included in this part of the analysis. Therefore, 47 patients aged between 5 and 14 years were identified. The median incidence during the study time was 5.7/100,000 (range, 2.8-8.3/100,000). In the Province of Monza-Brianza, we found an incidence rate of ARF among children aged 5-14 years constantly above the threshold of low-risk area as defined in the 2015 revision of Jones criteria. Therefore, the diagnosis of ARF should be based on the moderate-high-risk set of Jones criteria. However, given the burden of secondary prophylaxis, expert opinion is advisable when the diagnosis of ARF is uncertain., Competing Interests: The open access publication fee was covered by PEDIATRICA SPECIALIST srl. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Marino, Cimaz, Pelagatti, Tattesi, Biondi, Menni, Sala, Calzi, Morandi, Cortinovis, Cogliardi, Addis, Bellù, Andreotti and Varisco.)

Background: In recent years, bacterial cellulose (BC), or biocellulose, a natural polymer synthesized by certain bacteria, has attracted great interest in dermatology and cosmetic applications. Several bioactive ingredients are currently loaded into BC masks. However, only a few studies have reported the effectiveness of such delivery systems., Aim: The aim of this study was to evaluate the effect on skin parameters of three biocellulose masks formulated to have different cosmetic effects (anti-aging, lifting, and cell renewal). In particular, skin moisturizing, skin color, skin viscoelastic properties, skin surface smoothness, wrinkle reduction, dermal homogeneity, and stratum corneum renewal were evaluated., Materials and Methods: The study involved 69 healthy Caucasian female volunteers between 25 and 64 years, who were divided into three different studies. Biocellulose facial masks were applied using the split-face method three times a week for 4-8 weeks depending on the study., Results: The results obtained from this work highlight that biocellulose masks are very well tolerated. A significant decrease in skin roughness and wrinkle breadth, and an improvement in dermal homogeneity and firmness, was observed after 2 months of treatment with "anti-aging" masks. A significant improvement in skin firmness and elasticity was observed after 1 month of treatment with "lifting" masks. Furthermore, a 1-month treatment with "cell renewal" masks promoted the production of new skin cells through a mild exfoliating action., Conclusions: This study highlights that biocellulose masks are effective delivery systems to successfully release into the skin several types of active compounds exerting many beneficial effects., (© 2019 The Authors. Journal of Cosmetic Dermatology Published by Wiley Periodicals, Inc.)

Purpose: We performed an evaluation of dysphagia in an unselected series of strokes to identify factors causing persisting dysphagia at 1 month after onset and to formulate a predictive score., Methods: We evaluated the association between dysphagia and clinical aspects (univariate analysis) at the 7th and 30th days after admission. We performed a multivariate logistic regression at the 30th day on the factors that were significant. We computed a simple score for predicting persistent dysphagia., Results: We recruited 249 patients. At the 7th day, 94 patients were dysphagic (37.75%). Factors associated with dysphagia included TACI (OR 3.85), mRS ≥ 3 (OR 4.45), malnutrition (OR 2.69), and BMI ≥ 20 (OR 0.52). At the 30th day, 217 patients remained in the study, and dysphagia persisted in 75 (36.76%). The factors that were associated with dysphagia were age > 74 years (OR 1.99), TACI (OR 5.82), mRS score ≥ 3 (OR 4.31), malnutrition (OR 3.27), and BMI ≥ 20 (OR 0.45). The multivariate analysis indicated that mRS ≥ 3 (OR 1.80) and BMI ≥ 20 (OR 0.45) remained significantly associated with dysphagia. The best correlation with dysphagia was the sum of mRS and the reciprocal of the BMI multiplied by 100 ((mRS + 1 ∕ BMI) × 100). We named this score PreDyScore that ranged between 3.7 and 10.47. Using < 6 and > 8 as cutoffs, the sensitivity was 67.03%, and the specificity 95.65%., Conclusion: BMI < 20 and mRS ≥ 3 are easily measurable bedside predictive factors of persistent dysphagia. PreDyScore showed good sensitivity and very good specificity and enables the prediction of persistent dysphagia with great accuracy in any clinical setting.

Context: In recent years changes in screening strategies for congenital hypothyroidism (CH) led to an increased detection of mild forms of CH, associated with eutopic thyroid gland., Objectives: We aimed to determine the clinical evolution of CH with eutopic thyroid gland and to find out prognostic factors at diagnosis and follow-up., Patients and Methods: We retrospectively analyzed a group of 84 children with CH and eutopic thyroid gland treated at our institution. They all underwent clinical re-evaluation after the age of 3, based on thyroid function testing after l-thyroxine therapy withdrawal, thyroid ultrasonography, and (123)I scintigraphy with perchlorate discharge test. Genetic analysis was performed in selected cases., Results: At re-evaluation, 34.5% of patients showed permanent hypothyroidism and needed l-thyroxine reintroduction, 27.4% had persistent hyperthyrotropinemia (TSH 5-10 mU/L), and 38.1% had transient hypothyroidism. Major risk factors for permanent CH were prematurity, first-degree familial history of goiter/nodules, thyroid hypoplasia at diagnosis, and high l-thyroxine requirements at follow-up. Iodine organification defects were found in 29.7% of patients, 30% of whom harbored DUOX2 mutations. TSH receptor gene mutations were found in 8.7% of patients with persistent thyroid dysfunction and negative perchlorate discharge test., Conclusions: Only one-third of patients with CH and eutopic thyroid gland needed to continue l-thyroxine therapy after re-evaluation. A frequent finding was the persistence of mild hyperthyrotropinemia. The evolution of CH remains difficult to predict, although different clinical features might suggest different outcomes. Mutations in the genes commonly linked to mild forms of CH were documented in a minority of cases.

Consumptive hypothyroidism is a rare condition related to massive infantile hemangiomas producing an excess of the thyroid-hormone-inactivating enzyme type 3 iodothyronine deiodinase. We report the first case of consumptive hypothyroidism secondary to a large parotid hemangioma, highlighting the difficulties in selecting an adequate therapeutic strategy. The affected child was initially referred to our center for congenital hypothyroidism with a hypoplastic thyroid gland. L-Thyroxine (L-T4) replacement therapy was started at seven days of life. In the following weeks, the hemangioma rapidly increased in volume and the child developed severe hypothyroidism refractory to high doses of L-T4 therapy. The concentration of reverse triiodothyronine was elevated, suggesting that the underlying cause was an excessive conversion of thyroid hormones by high type 3 iodothyronine deiodinase levels in the tumor. Corticosteroid treatment showed only partial benefit. Introduction of propranolol instead led to normalization of thyroid hormones along with a dramatic involution of the hemangioma.

Context: The guidelines of the National Academy of Clinical Biochemistry advocated the use of low bloodspot TSH (b-TSH) threshold for newborn screening of congenital hypothyroidism (CH). The impact generated by the application of this indication is largely unknown., Objective: To determine the impact on CH epidemiology and classification generated by the introduction of low b-TSH cutoff., Design: Retrospective study of 629,042 newborns screened with b-TSH cutoffs of 12 (years 1999-2002) or 10 mU/l (2003-2005)., Measurements: Congenital hypothyroidism incidence and classification. Results were compared with those virtually obtained with the previous cutoff (20 mU/l). Clinical re-evaluation after L-T4 withdrawal of a representative group of 140 CH children at 3-5 years., Results: Low b-TSH cutoffs allowed the detection of 435 newborns with confirmed CH (incidence 1:1446). Forty-five percent of CH infants, including 12/141 dysgenesis, would have been missed using the 20 mU/l cutoff. In contrast to current classification, 32% CH newborns had thyroid dysgenesis and 68% had a gland in situ (GIS). Premature birth was present in 20% of cases being associated with a 3-5 fold increased risk of GIS CH. Re-evaluation at 3-5 years showed a permanent thyroid dysfunction in 78% of 59 CH toddlers with GIS., Conclusions: The use of low b-TSH cutoff allowed the detection of an unsuspected number of children with neonatal hypothyroidism, evolving in mild permanent thyroid dysfunction later in life. The incidence of CH in this Italian population appears to be double than previously thought with a clear-cut prevalence of functional defects over dysgenetic ones.

Context: Dual oxidase 2 (DUOX2) is the catalytic core of the H(2)O(2) generator crucial for the iodination of thyroglobulin in thyroid hormone synthesis. DUOX2 deficiency produces congenital hypothyroidism (CH) in humans and mice. We recently cloned a novel gene, the product of which (dual oxidase maturation factor 2; DUOXA2) is required to express DUOX2 enzymatic activity., Objective: Our objective was to identify DUOXA2 mutations as a novel cause of CH due to dyshormonogenesis., Patients: Subjects included 11 CH patients with partial iodine organification defect but negative for other known genetic causes of partial iodine organification defect., Results: One Chinese patient born to nonconsanguineous parents was homozygous for a nonsense mutation (p.Y246X), producing a truncated DUOXA2 protein lacking transmembrane helix 5 and the C-terminal cytoplasmic domain. The mutant protein was inactive in reconstituting DUOX2 in vitro. Pedigree analysis demonstrated recessive inheritance, because heterozygous carriers had normal thyroid function including negative results in neonatal TSH screening. One heterozygous carrier of Y246X was identified in unrelated Chinese controls (n = 92) but not in Caucasian or Japanese controls, indicating that homozygosity for Y246X could be a frequent cause of CH in Chinese. Functional studies suggest that the DUOXA2 paralog (DUOXA1) can partially compensate DUOXA2 deficiency, consistent with the proband having a milder CH phenotype than patients with biallelic DUOX2 nonsense mutations., Conclusions: We report the first mutation in DUOXA2, identified in a patient with CH and dyshormonogenic goiter. Results of our studies provide evidence for the critical role of DUOXA2 in thyroid hormonogenesis. Biallelic DUOXA2 mutations are a novel genetic event in permanent CH.

Purpose: Prompt initiation of L-thyroxine therapy in neonates with congenital hypothyroidism (CH) often prevents the performance of functional studies. Aetiological diagnosis is thus postponed until after infancy, when the required investigations are performed after L-thyroxine withdrawal. The aim of this study was to verify the efficacy and safety of new protocols for rhTSH (Thyrogen) testing during L-thyroxine replacement in the differential diagnosis of CH., Methods: Ten CH patients (15-144 months old) were studied. Seven had neonatal evidence of gland in situ at the ultrasound examination performed at enrolment and received two rhTSH injections (4 microg/kg daily, i.m.) with 123I scintigraphy and perchlorate test on day 3. Three patients with an ultrasound diagnosis of thyroid dysgenesis received three rhTSH injections with 123I scintigraphy on days 3 and 4. TSH and thyroglobulin (Tg) determinations were performed on days 1, 3 and 4, and neck ultrasound on day 1., Results: rhTSH stimulation caused Tg levels to increase in eight cases. Blunted Tg responses were seen in two patients with ectopia and hypoplasia. Interestingly, in two cases the association of different developmental defects was demonstrated. Perchlorate test revealed a total iodide organification defect in two patients, including one with a neonatal diagnosis of Pendred's syndrome, who were subsequently found to harbour TPO mutations. rhTSH did not cause notable side-effects., Conclusion: These new rhTSH protocols always resulted in accurate disease characterisation, allowing specific management and targeted genetic analyses. Thus, rhTSH represents a valid and safe alternative to L: -thyroxine withdrawal in the differential diagnosis of CH in paediatric patients.

Notwithstanding its research and clinical relevance, the dimensionality and validity of the DSM-IV avoidant, dependent, and obsessive-compulsive personality disorders (PDs) criteria is still a largely unexplored topic. The aim of this study was to test the factor structure for DSM-IV Cluster C PD criteria in a sample of 641 consecutively admitted outpatients. Factor analysis results suggested that avoidant, dependent, and obsessive-compulsive PDs share a common latent dimension, and supported the three-factor structure of both observer and self-report ratings of DSM-IV Cluster C PD criteria. The pattern of factor loadings, however, was different from the one expected according to the DSM-IV classification.

The aim of this study was to examine the latent structure of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), Narcissistic Personality Disorder (NPD) criteria in a group of 641 outpatients. The consecutively admitted outpatients were administered the Structured Clinical Interview for DSM-IV Axis II Personality Disorders, Version 2.0, and the Personality Questionnaire. Both confirmatory and exploratory factor analyses (CFA and EFA, respectively) were used to evaluate whether the NPD criteria measure a single latent trait. Latent class analysis was used to assess the diagnostic accuracy of the individual DSM-IV NPD criteria. Mean above minus below a cut (MAMBAC) and maximum covariance (MAXCOV) taxometric analyses were used to evaluate whether the latent distribution of the DSM-IV NPD features is actually discrete. Both CFA and EFA results showed that the 9 DSM-IV NPD criteria loaded on 2 correlated factors. The latent class analysis results suggested a 3-class solution for NPD criteria; relevant differences in diagnostic efficiency were observed among the NPD criteria. MAMBAC and MAXCOV analyses provided consistent evidence of taxonic (ie, discrete) latent structure for NPD. This study gave only partial support to the validity of the DSM-IV NPD construct. Taxometric analyses indicated that a typological model is appropriate for describing NPD, but CFA and EFA suggested the existence of 2 distinct-albeit correlated-clusters of narcissistic features. As a whole, the DSM-IV criteria discriminated NPD from other personality disorders, but diagnostic accuracy statistics did not replicate the rank order of diagnostic efficiency of NPD criteria proposed by the DSM-IV.

The use of omega-3 fatty acids for diabetic patients is based on well confirmed observations concerning the presence of cardiovascular risk factors in these patients. Changes of lipid metabolism, reduced erythrocyte deformability, increased platelet aggregation, and high blood pressure often found in subjects with diabetes mellitus are all favourably influenced by the administration of eicosapentanoic and docosahexanoic acid. In non insulin dependent subjects, these fatty acids may bring about a rapid reversible deterioration of blood glucose balance while in insulin dependent patients there is no relevant interference. Therefore, omega-3 administration would appear advisable in insulin dependent diabetics with increased cardiovascular risk factors.