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1.
Lancet Reg Health Eur ; 5: 100081, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34104902

ABSTRACT

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.

3.
J Clin Endocrinol Metab ; 89(11): 5669-74, 2004 Nov.
Article in English | MEDLINE | ID: mdl-15531527

ABSTRACT

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.


Subject(s)
DNA-Binding Proteins/genetics , Mutation , Nuclear Proteins/genetics , Thyroid Gland/abnormalities , Trans-Activators/genetics , Amino Acid Sequence , DNA/metabolism , Gene Deletion , HeLa Cells , Humans , Molecular Sequence Data , PAX8 Transcription Factor , Paired Box Transcription Factors , Phenotype , Transcription, Genetic
4.
Eur J Endocrinol ; 149(1): 1-6, 2003 Jul.
Article in English | MEDLINE | ID: mdl-12824859

ABSTRACT

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 microg/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-Lezine 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, chi(2)=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%; chi(2)=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.


Subject(s)
Bone Development , Hypothyroidism/diagnosis , Psychomotor Disorders/diagnosis , Cohort Studies , Congenital Hypothyroidism , Humans , Hypothyroidism/drug therapy , Hypothyroidism/epidemiology , Infant , Infant, Newborn , Neonatal Screening , Predictive Value of Tests , Prevalence , Prognosis , Psychomotor Disorders/epidemiology , Retrospective Studies , Severity of Illness Index , Thyroxine/administration & dosage
5.
J Pediatr Gastroenterol Nutr ; 35(4): 527-31, 2002 Oct.
Article in English | MEDLINE | ID: mdl-12394379

ABSTRACT

BACKGROUND: Rotavirus is one of the leading etiologic agents of nosocomial infections among children. The development of preventive measures is therefore important. The efficacy of GG in the treatment of rotavirus infection has been reported in literature, but there is only one recent study about its effectiveness in prevention of infection. The role of breast-feeding in the prevention of rotavirus infection is still debated. The aim of our study was to assess the efficacy of GG and breast-feeding in the prevention of nosocomial rotavirus infections. METHODS: In a randomized, placebo-controlled, double-blind study, 220 children aged 1 to 18 months hospitalized from December 1999 to May 2000, received GG (n = 114) at a dose of 10 colony-forming units or a comparable placebo (n = 106) every day of their hospital stay. Rotavirus testing on stool samples was performed for every patient on admission, during hospitalization, and after discharge. RESULTS: The total incidence of nosocomial rotavirus infections was 27.7% (61 of 220 patients). The attack rate of rotavirus infections among the patients who received probiotic was 25.4% (29 of 114 patients), while for the placebo group it was 30.2% (32 of 106 patients). The difference is not significant (P = 0.432). Forty-seven of 220 infants (21.4%) were breast-fed, and 173 of 220 (78.6%) were non-breast-fed. The attack rate of rotavirus infections among breast-fed infants was 10.6% (5 of 47 infants), while for non-breast-fed infants it was 32.4% (56 of 173 infants). The difference is significant (P = 0.003). CONCLUSION: In our study, GG was ineffective in preventing nosocomial rotavirus infections, whereas breast-feeding was effective.


Subject(s)
Breast Feeding , Cross Infection/prevention & control , Lactobacillus/physiology , Milk, Human/immunology , Probiotics/administration & dosage , Rotavirus Infections/prevention & control , Colony Count, Microbial , Cross Infection/epidemiology , Double-Blind Method , Feces/virology , Female , Hospitals, Pediatric , Humans , Infant , Male , Rotavirus Infections/epidemiology
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