In our study, GG was ineffective in preventing nosocomial rotavirus infections, whereas breast-feeding was effective.

The PAX8 gene, mapped on 2q12-q14, encodes for a transcription factor involved in thyroid cell proliferation and differentiation. Five mutations in PAX8 have been so far described in both sporadic and rare familial forms of thyroid dysgenesis with proposed autosomal dominant inheritance, all associated with thyroid hypoplasia and/or dysfunction. Fifty-four subjects with congenital hypothyroidism detected during neonatal screening and associated with an ultrasound or scintiscan picture of thyroid dysgenesis were investigated for PAX8 mutations. The entire PAX8 coding region with exon-intron boundaries was amplified from genomic DNA, and a mutational screening was performed by denaturing HPLC followed by direct sequencing when denaturing HPLC elution abnormalities appeared. A new heterozygous deletion (c.989_992delACCC) in exon 7 causing a frameshift with premature stop codon after codon 277 was identified in a subject with thyroid hypoplasia. This mutation is the only one so far identified that lies outside the paired domain. The predicted mutant protein completely lacks the C-terminal region but contains the paired box, octapeptide, and homeodomain. It retains the ability to bind a paired-domain sequence in vitro but is transcriptionally inactive. These results provide evidence that the C-terminal region is essential for transcriptional activity. The new mutation has been inherited from the completely euthyroid mother. It was also present in a brother with slightly elevated TSH only. Thus, it is associated with thyroid dysgenesis in the proband and both euthyroidism and compensated hypothyroidism in her family. This suggests that other factors/genes may modulate phenotypic expression.

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Objective: To evaluate in a cohort of infants with congenital hypothyroidism (CH): (a) the frequency of bone maturation (BM) retardation at birth and (b) whether BM delay at birth may be considered as a tool to make a prognosis of psychomotor status at the age of 1 year, irrespective of other variables related to treatment. Design: BM at birth, CH severity and developmental quotient (DQ) at the age of 1 year were retrospectively evaluated in 192 CH infants selected by the following inclusion criteria: (a) gestation age ranging between 38 and 42 weeks; (b) onset of therapy within the first month of life; (c) initial thyroxine (L-T 4 ) dosage ranging from 10 to 12 mg/kg/day; (d) normalization of serum thyrotropin (TSH) levels before the age of 3 months; (e) monthly adjustments of L-T 4 dose during the first year of life with serum TSH levels ranging from 0.5 to 4 mIU/l; (f) no major diseases and/or physical handicaps associated with CH; (g) availability of both thyroid scanning and knee X-rays at the time of treatment initiation; (h) availability of DQ assessment at an average age of 12 months. Methods: BM was considered normal if the distal femur bony nucleus diameter exceeded 3 mm (group A) or retarded if either this nucleus was absent (subgroup B1) or its diameter was , 3 mm (subgroup B2). DQ was evaluated with the Brunet -Lézine test. Results: In 44.3% of cases BM was either delayed (23.5%) or severely delayed (20.8%). The risk of BM retardation was higher in the patients with athyreosis than in the remaining patients (41/57 vs 44/135, x 2 ¼ 25.13, P , 0.005). BM-retarded infants showed a more severe biochemical picture of CH at birth and a lower DQ at the age of one year compared with the group A patients. If compared with infants of subgroup B2 those of subgroup B1 exhibited significantly lower T 4 levels at birth and a more frequent association with athyreosis (70.0 vs 30.0%; x 2 ¼ 7.49, P , 0.01), whereas DQ was superimposable in both subgroups. Conclusions: (a) BM at birth is delayed in almost half of CH patients and (b) CH severity per se can affect DQ at the age of 1 year irrespective of other variables related to therapy.

Background COVID-19 pandemic caused huge decrease of pediatric admissions to Emergency Department (ED), arising concerns about possible delays in diagnosis and treatment of severe disorders. Methods Impact of COVID-19 on Pediatric Emergency Room (ICOPER) was a retrospective multicentre observational study including 23 Italian EDs. All the children <18 years admitted, between March 9th and May 3rd 2020 stratified by age, priority code, cause of admission and outcome have been included and compared to those admitted in the same period of 2019. Our objectives were to assess the characteristics of pediatric admissions to EDs since COVID-19 outbreak until the end of lockdown, and to describe the features of critical children. Findings 16,426 children were admitted in 2020, compared to 55,643 in 2019 (-70·48%). Higher reduction was reported in hospitals without Pediatric Intensive Care Unit (PICU) (-73·38%) than in those with PICU (-64·08%) ( P <0·0001). Admissions with low priority decreased more than critical ones (-82·77% vs. 44·17% respectively; P <0·0001). Reduction of discharged patients was observed both in hospitals with (-66·50%) and without PICU (-74·65%) ( P <0·0001). No difference in the duration of symptoms before admission was reported between 2019 and 2020, with the majority of children accessing within 24 h (55·08% vs. 57·28% respectively; P = 0·2344). Interpretation Admissions with low priority decreased significantly more than those with high priority; we suppose that the fear of being infected in hospital maybe overcame the concerns of caregivers. Compared to 2019, no significant referral delay by caregivers was reported. Our data suggest the need of adaptation of EDs and primary care services to different needs of children during COVID-9 pandemic.