Purpose: Intrapartum antibiotic prophylaxis (IAP) prevents group B streptococcus (GBS) early-onset disease (EOD). No European study evaluates the relative impact of risk factors (RFs) for EOD after a screening-based strategy and widespread IAP use We aimed to evaluate the risks of EOD in an Italian region where a screening-based strategy for preventing EOD was implemented. Materials and methods: Cases of EOD born at or above 35 weeks' gestation were reviewed and matched with controls. Results: There were 109 cases of EOD among 532,154 live births. Most cases had negative GBS prenatal screening (56/91, 61.5%) and were unexposed to IAP (86/109, 78.9%). At multivariate analysis, GBS bacteriuria (OR = 6.99), positive prenatal screening (OR = 13.7) and maternal intrapartum fever (OR = 188.3) were associated with an increased risk of EOD, whereas intrapartum beta-lactam antibiotics were associated with a decreased risk of EOD (>= 4 h: OR = 0.008; OR = 0.04). Neonates born to nonfebrile, GBS positive pregnant women, receiving beta-lactam antibiotics had very low probability of EOD, particularly if IAP was adequate. Conclusions: GBS positive prenatal screening, GBS bacteriuria and intrapartum fever are associated with EOD. Intrapartum beta-lactam antibiotics reduce the probability of EOD in neonates born to nonfebrile mothers.

Objective: Group B streptococcus (GBS) early-onset sepsis (EOS) has declined after widespread intrapartum antibiotic prophylaxis. However, strategies for preventing EOS may differ across countries. The analysis of their strategies allows to compare the effectiveness of prevention in different countries and suggests opportunities for improvement.Methods: We compared six western countries. Prevention strategies, incidence rates of EOS and approaches for managing neonates at-risk were analysed. Countries were selected because of availability of recommendations for prevention and sufficient epidemiological data for comparison.Results: Five of six countries recommend antenatal vagino-rectal screening. The decline of GBS cases is relevant in most countries, particularly in those with a screening-based strategy, which have reached incidence rates from 0.1 to 0.3/1000 live births and zero or close to zero mortality in full-term newborns. The recommendation for managing asymptomatic neonates at risk for EOS varies according to gestational age and ranges from observation only to laboratory testing plus empirical antibiotics. Chorioamnionitis (suspected or confirmed) is the main indication for carry out laboratory testing and for administering empirical antibiotics.Conclusions: Wide variations exists in preventing EOS. They depend on national epidemiology of GBS infections, compliance, cost, and feasibility of the strategy. The extreme variability of approaches for managing neonates at risk for EOS reflects the even greater uncertainty regarding this issue, and may explain the persisting, great use of resources to prevent a disease that has become very rare nowadays.

Pediatric DermatologyVolume 24, Issue 4 p. 426-428 Dermatologic Features in Pallister–Killian Syndrome and their Importance to the Diagnosis E GUARESCHI M.D., E GUARESCHI M.D. Department of Dermatology, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorL GARAVELLI M.D., L GARAVELLI M.D. Department of Pediatrics, Clinical Genetic-Unit, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorS PEDORI M.D., S PEDORI M.D. Department of Pediatrics, Clinical Genetic-Unit, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorV DI LERNIA M.D., V DI LERNIA M.D. Department of Dermatology, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorL GRENZI M.D., L GRENZI M.D. Department of Dermatology, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorF FRANCHI M.D., F FRANCHI M.D. Laboratory of Genetics, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorM MARINELLI M.D., M MARINELLI M.D. Laboratory of Genetics, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorGF CROCI M.D., GF CROCI M.D. Laboratory of Genetics, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorE PEDRETTI M.D., E PEDRETTI M.D. Department of Pediatrics, Fiorenzuola Hospital, Piacenza, ItalySearch for more papers by this authorSERGIO AMARRI M.D., SERGIO AMARRI M.D. Department of Pediatrics, Clinical Genetic-Unit, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorG BANCHINI M.D., G BANCHINI M.D. Department of Pediatrics, Clinical Genetic-Unit, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorGIUSEPPE ALBERTINI M.D., GIUSEPPE ALBERTINI M.D. Department of Dermatology, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this author E GUARESCHI M.D., E GUARESCHI M.D. Department of Dermatology, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorL GARAVELLI M.D., L GARAVELLI M.D. Department of Pediatrics, Clinical Genetic-Unit, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorS PEDORI M.D., S PEDORI M.D. Department of Pediatrics, Clinical Genetic-Unit, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorV DI LERNIA M.D., V DI LERNIA M.D. Department of Dermatology, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorL GRENZI M.D., L GRENZI M.D. Department of Dermatology, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorF FRANCHI M.D., F FRANCHI M.D. Laboratory of Genetics, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorM MARINELLI M.D., M MARINELLI M.D. Laboratory of Genetics, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorGF CROCI M.D., GF CROCI M.D. Laboratory of Genetics, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorE PEDRETTI M.D., E PEDRETTI M.D. Department of Pediatrics, Fiorenzuola Hospital, Piacenza, ItalySearch for more papers by this authorSERGIO AMARRI M.D., SERGIO AMARRI M.D. Department of Pediatrics, Clinical Genetic-Unit, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorG BANCHINI M.D., G BANCHINI M.D. Department of Pediatrics, Clinical Genetic-Unit, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this authorGIUSEPPE ALBERTINI M.D., GIUSEPPE ALBERTINI M.D. Department of Dermatology, S. Maria Nuova Hospital, Reggio EmiliaSearch for more papers by this author First published: 05 September 2007 https://doi.org/10.1111/j.1525-1470.2007.00469.xCitations: 6 Address correspondence to Giuseppe Albertini, M.D., Struttura Complessa di Dermatologia, Arcispedale S. Maria Nuova, Azienda Ospedaliera, Viale Risorgimento, 80 42100 Reggio Emilia, Italy, or e-mail: albertini.giuseppe@asmn.re.it. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume24, Issue4July/August 2007Pages 426-428 RelatedInformation

Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature.

CONTEXT GnRH analogs (GnRHa) are considered the treatment of choice for central precocious puberty (CPP). During GnRHa administration, the suppression of the pituitary-gonadal axis results in decreased rates of linear growth and skeletal maturation and in improved adult height. However, in some patients, the growth deceleration is so marked that the expected improvement in predicted adult height is not achieved. OBJECTIVE The objective of this study was to assess whether the addition of oxandrolone (Ox) may affect the height outcome of patients with CPP and growth deceleration during GnRHa treatment. DESIGN This was an open-label, clinical study. SETTING The study was performed at a pediatric endocrinology referral clinic. PATIENTS Twenty patients with CPP and marked growth deceleration during GnRHa treatment were studied. INTERVENTIONS Treatment consisted of GnRHa (Leuprorelina, 3.75 mg im every 28 d) alone (10 patients) or in combination with Ox (0.06 mg/kg.d by mouth) (10 patients). MAIN OUTCOME MEASURE The main outcome measure was the patients' adult height. RESULTS The adult height of the patients treated with GnRHa plus Ox was significantly higher than pretreatment predicted adult height (162.6 +/- 2.3 vs. 154.8 +/- 1.7 cm, mean +/- sem; P < 0.05) and target height (162.6 +/- 2.3 vs. 158.0 +/- 1.9; P > 0.05). Patients treated with GnRHa alone reached an adult height similar to the pretreatment predicted adult height (151.9 +/- 1.2 vs. 155.4 +/- 2.1 cm) but significantly lower than target height (151.9 +/- 1.2 vs. 156.6 +/- 1.4 cm; P < 0.005). No side effects were recorded in either group of patients. CONCLUSIONS Combined GnRHa and Ox therapy is a viable treatment option for children with CPP and marked growth deceleration during treatment with GnRHa alone.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.

Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation. It is caused by mutations in the zinc finger homeo box 1B gene, ZFHX1B (SIP1). To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. In 39 patients where this information was available, hypospadias was present in 46% of patients (18/39). In the 3 Italian male cases reported here, hypospadias was always present. MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype.