Erythema multiforme as first sign of incomplete Kawasaki disease

ABSTRACT: Incomplete Kawasaki disease represents a diagnostic challenge for pediatricians. In the absence of classical presentation, the laboratoristic evaluation of systemic inflammation can help in placing the correct diagnosis to promptly start adequate therapy. Erythema multiforme is an acute, self-limiting condition considered to be a hypersensitivity reaction commonly associated with various infections or medications. This aspecific skin condition has been rarely described as a sign of Kawasaki disease. We report on the case of a 4 years old boy presenting high-grade fever associated with erythema multiforme and evidence of systemic inflammation who showed a good response to prompt treatment with intravenous immunoglobulins

Role of OPRM1, clinical and anthropometric variants in neonatal pain reduction

An increased awareness on neonatal pain-associated complications has led to the development of pain scales adequate to assess the level of pain experienced by newborns such as the ABC score. A commonly used analgesic procedure is to administer a 33% oral dextrose solution to newborns prior to the painful intervention. Although this procedure is very successful, not in all subjects it reaches complete efficacy. A possible explanation for the different response to the treatment could be genetic variability. We have investigated the genetic variability of the OPRM1 gene in 1077 newborns in relation to non-pharmacologic pain relief treatment. We observed that the procedure was successful in 966 individuals and there was no association between the genotypes and the analgesic efficacy when comparing individuals that had an ABC score = 0 and ABC score >0. However, considering only the individuals with ABC score>0, we found that the homozygous carriers of the G allele of the missense variant SNP rs1799971 (A118G) showed an interesting association with higher ABC score. We also observed that individuals fed with formula milk were more likely to not respond to the analgesic treatment compared to those that had been breastfed

Extrauterine growth restriction in preterm infants: growth patterns, nutrition and epigenetic markers. A pilot study

Background/Aims: IntraUterine (IUGR) and ExtraUterine Growth Restriction (EUGR) may induce reprogramming mechanisms, finalized to survive before and after birth. Nutritional factors and other environmental signals could regulate gene expression through epigenetic modification, but the molecular mechanisms involved are not yet well understood. Epigenetic mechanisms could be considered as a bridge between environmental stimuli and long lasting phenotype, acquired during the intrauterine life and the first weeks of life. Our aim was to investigate the relationship between growth patterns, nutritional determinants, and epigenetic pathways. Methods: We enrolled 38 newborns admitted to Neonatal Intensive Care Unit (NICU) at University Hospital of Pisa. Gestational age at birth was 1 SD. We also evaluated DNA methylation of Imprinting Centre 1 (IC1) at birth and at discharge. Results: We observed a decrease in SD of weight and head circumference mainly during the first weeks of life. We found a correlation between EUGR for weight and for head circumference and an increased IC1 methylation (p = 0.018 and p = 0.0028, respectively). We observed a relationship between reduced protein and lipid intake and IC1 hypermethylation (p = 0.009 and p = 0.043, respectively). Conclusion: IC1 hypermethylation could be a reprogramming mechanism to promote a catch-up growth, by means of an increased Insulin-like growth factor 2 (IGF2) expression, that may have potential effects on metabolic homeostasis later in life

A novel missense mutation of the NsD1 gene associated with overgrowth in three generations of an Italian family: Case report, differential diagnosis, and review of mutations of NsD1 gene in familial sotos syndrome

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages. The patient showed neonatal jaundice, hypotonia, feeding difficulties, frequent vomiting, and gastroesophageal reflux. After the age of 6 months, his weight, length, and head circumference were above the 97th centile; psychomotor development was delayed. At the age of 9 years, the patient showed also joint laxity and scoliosis. DNA sequence analysis of NSD1 gene detected a novel heterozygous mutation (c.521T > A, p. Val174Asp) in exon 2. The same mutant allele was also found in the mother and in the maternal grandfather of the proband; both the mother and the maternal grandfather of the proband showed isolated overgrowth with height above the 97th centile in absence of other features of SoS. At present 23 familial cases of SoS have been described (two cases with mutation in exon 2 of NSD1 gene); no familial cases of SoS with mutation of NSD1 gene and isolated overgrowth have been reported. Probably, point mutations of NSD1 gene, and particularly mutations between exon 20 and exon 23, are not likely to affect reproductive fitness. Epigenetic mechanisms and intrauterine environment may influence phenotypes, therefore genetic tests are not useful to predict the phenotype but they are indispensable for the diagnosis of SoS. This is the first Italian familial case of SoS with genetic confirmation and the third report in which a missense mutation of NSD1 gene is found in three generations of the same family

Correlation between placental histopathology and foetal/neonatal outcome: chorioamnioitis and funisitis are associated to intraventricular haemorrhage and retinopathy of prematurity in preterm newborns

Introduction. Placental anatomopathologic lesions are usually associated with pregnancy complications and neonatal impaired outcome. Patients and methods. We included in our study 122 patients with gestational age of 26-35 weeks. From the analysis of three pathological aspects (chorioamnionitis, funisitis and chronic hypoxia), a score was assigned to each lesion depending on the severity of the alteration, to establish a correlation with an impaired neonatal outcome in preterm newborns. Results. We found a correlation between chronic hypoxia and preeclampsia, intrauterine growth restriction and/or small-for-gestational age status at birth. Our results also showed the strong association of fetal placental inflammatory status (chorioamnionitis and funisitis) with premature rupture of membranes, very low birth weight, birth at/before 32 gestational weeks, late-onset sepsis, patent duct arteriosus, intraventricular haemorrhage (IVH) and retinopathy of prematurity (ROP). Conclusions. We confirm that placental lesions are associated with impaired pregnancy and neonatal outcome. During pregnancy it may be useful to identify some markers of inflammatory status and chronic hypoxia for an early diagnosis and a detailed monitoring of pregnancy course. Placental pathological analysis is very important to predict the risk of developing serious complications of preterm birth as ROP and IVH

Correlation between placental histopathology and fetal/neonatal outcome: chorioamnionitis and funisitis are associated to intraventricular haemorrage and retinopathy of prematurity in preterm newborns

Introduction. Placental anatomopathologic lesions are usually associated with pregnancy complications and neonatal impaired outcome. Patients and methods. We included in our study 122 patients with gestational age of 26-35 weeks. From the analysis of three pathological aspects (chorioamnionitis, funisitis and chronic hypoxia), a score was assigned to each lesion depending on the severity of the alteration, to establish a correlation with an impaired neonatal outcome in preterm newborns. Results. We found a correlation between chronic hypoxia and preeclampsia, intrauterine growth restriction and/or small-for-gestational age status at birth. Our results also showed the strong association of fetal placental inflammatory status (chorioamnionitis and funisitis) with premature rupture of membranes, very low birth weight, birth at/before 32 gestational weeks, late-onset sepsis, patent duct arteriosus, intraventricular haemorrhage (IVH) and retinopathy of prematurity (ROP). Conclusions. We confirm that placental lesions are associated with impaired pregnancy and neonatal outcome. During pregnancy it may be useful to identify some markers of inflammatory status and chronic hypoxia for an early diagnosis and a detailed monitoring of pregnancy course. Placental pathological analysis is very important to predict the risk of developing serious complications of preterm birth as ROP and IVH

Neonatal outcome in newborns from mothers with endocrinopathies

Introduction. Hypothyroidism and gestational diabetes are common endocrine disorders in pregnancy. Our aim is to evaluate the outcome of newborns from mothers with hypothyroidism and from mothers with gestational diabetes. Patients and methods. The study analysed 216 newborns: 112 from mothers with gestational diabetes and 104 from mothers with hypothyroidism. For each case, we included as a control a newborn of same sex and gestational age from a mother without diabetes or thyreopathy. Results. In newborns from mothers with gestational diabetes there was an increased frequency of hypoglycaemia and hypocalcaemia, of lower head circumference and of small-for-gestational age (SGA) birth or macrosomy (LGA) than controls. The newborns from mothers with hypothyroidism are more frequently SGA or LGA and they have a slightly increased risk of hypoglycaemia. Conclusions. Newborns from mothers with diabetes mellitus or hypothyroidism have an increased risk of being SGA or LGA, and to develop a mild transient hypoglycaemia. Newborns from mothers with diabetes mellitus have also an increased risk to develop hypocalcacmia and to have a lower head circumference than controls. Thus, to prevent SGA or LGA births, it is very important an early diagnosis and treatment, and a strict metabolic control of these conditions

Comparison of artificial rearing systems using clinical and hematological parameters: A preliminary study

Comparison of clinical and hematological profile of Anglo Nubian kids was performed under three different rearing systems. Animals were separated from their dams and rearing from birth until pre-weaning at 24 days of age. Kids were fed with goat milk, reconstituted cow powder milk and reconstituted cow powder milk with enrofloxacin in a sutbherapeutical doses. Clinical exam and blood analysis were performed at 3, 10 and 21 days of treatment. Body weight did not show significant differences between treatments. Values of heart rate, cholesterol, urea, serum alkaline phosphatase and segmented neutrophils (%) were outside reference values. However, changes could be explained by physiological state and age of the animals. The use of diet supplemented with enrofloxacin did not generate substantial benefits in the animals that received it. In addition, the use of antibiotics in farms needs to be reconsidered in order to avoid negative environmental effects

Comparison of Artificial Rearing Systems Using Clinical and Hematological Parameters: a Preliminary Study

Comparison of clinical and hematological profile of Anglo Nubian kids was performed under three different rearing systems. Animals were separated from their dams and rearing from birth until pre-weaning at 24 days of age. Kids were fed with goat milk, reconstituted cow powder milk and reconstituted cow powder milk with enrofloxacin in a sutbherapeutical doses. Clinical exam and blood analysis were performed at 3, 10 and 21 days of treatment. Body weight did not show significant differences between treatments. Values of heart rate, cholesterol, urea, serum alkaline phosphatase and segmented neutrophils (%) were outside reference values. However, changes could be explained by physiological state and age of the animals. The use of diet supplemented with enrofloxacin did not generate substantial benefits in the animals that received it. In addition, the use of antibiotics in farms needs to be reconsidered in order to avoid negative environmental effects