The survival rate was high and the morbidity rate at discharge home was low in the present study, compared with previous population-based studies. With the exception of ROP, the morbidity rates among the survivors were not higher at the lowest GAs, possibly because withholding treatment was considered more acceptable for the most immature infants. The need for intensive care increased markedly for survivors with the lowest GAs.

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.

ABSTRACT. Objectives. To investigate the occurrence of and risk factors for late-onset septicemia (LOS) in a national cohort of extremely premature infants who received very early full human milk feeding.Methods. A prospective study of all infants born in Norway in 1999 and 2000 with gestational age of <28 weeks or birth weight of <1000 g was performed. Extensive clinical information, including data on feeding practices and episodes of septicemia, was collected on predefined forms. LOS was defined as growth of bacteria or fungi in blood cultures in conjunction with clinical symptoms consistent with systemic infection occurring after day 6 of life. Cox regression models, including models allowing for time-dependent covariates, were applied in the analysis of LOS.Results. Of 464 eligible infants, 462 (99.6%) were enrolled and 405 (87.7%) survived until day 7. LOS was diagnosed for 80 (19.7%). The predominant pathogens were coagulase-negative staphylococci, followed by Candida spp. Case fatality rates associated with septicemia were 10% in general and 43% for Candida spp septicemia. Necrotizing enterocolitis or bowel perforation was diagnosed for 19 infants (4%). Enteral feeding with human milk was initiated within the third day for 98% of patients, and 92% were receiving full enteral feeding (FEF) with human milk within the third week. Both high Clinical Risk Index for Babies scores and an umbilical venous catheter in situ at 7 days of age significantly predicted LOS. However, the overall most influential risk factor for LOS was the number of days without establishment of FEF with human milk, with an adjusted relative risk of 3.7 (2.0 -6.9) for LOS if FEF was not established within the second week of life.Conclusions. The incidence and case fatality rate of septicemia for this cohort of extremely preterm infants were lower than values in comparable studies. The main difference, compared with other studies, was the feeding practice, and the data suggest that very early FEF with human milk significantly reduces the risk of LOS among extremely premature infants. L ate-onset septicemia (LOS) remains an important cause of death, morbidity, and long-term sequelae among premature infants. 1-9 The reported incidence of LOS among infants with birth weight (BW) of Ͻ1500 g ranges between 16 and 30%, [1][2][3][4]8,9 approaching 50% among infants with BW of Ͻ1000 g, 8 and case fatality rates are high (17-21%). [1][2][3]8 Gram-positive bacterial flora, mainly coagulase-negative staphylococci (CONS), has dominated bloodstream recovery for some years. 1,5,10,11 However, among the smallest infants, systemic fungal infections have become a major problem, with high case fatality rates and high rates of severe sequelae among survivors. 7 For these patients, the risk of invasive infection is high, dependent on a number of clinical factors, and inversely related to BW and gestational age (GA). [1][2][3][4]8,9 Enteral feeding with human milk is generally regarded as beneficial 12,13 and may reduce the incidence of necrotizing enterocoli...

OBJECTIVE: We conducted a blinded, randomized, controlled trial to examine whether mildly dysplastic but stable or instable hips would benefit from early treatment, as compared with watchful waiting. PATIENTS AND METHODS: A total of 128 newborns with mild hip dysplasia (sonographic inclination angle [α angle] of 43°–49°) and stable or instable but not dislocatable hips were randomly assigned to receive either 6 weeks of abduction treatment (immediate-treatment group) or follow-up alone (active-sonographic-surveillance group). The main outcome measurement was the acetabular inclination angle, measured by radiograph, at 1 year of age. RESULTS: Both groups included 64 newborns, and there was no loss to follow-up. With the exception of a small but statistically significant excess of girls in the active-sonographic-surveillance group, there were no statistically significant differences in baseline characteristics between the 2 groups. The mean inclination angle at 12 months was 24.2° for both groups (difference: 0.1 [95% confidence interval (CI): −0.8 to 0.9]), and all children had improved and were without treatment. The mean α angle was 59.7° in the treatment group and 57.1° in the active-surveillance group for a difference of 2.6° evaluated after 1.5 and 3 months (95% CI: 1.8 to 3.4; P &lt; .001). At 1.5 months of age, the hips had improved in all treated children but not in 5 children under active surveillance (P = .06). Among the sonographic-surveillance group, 47% received treatment after the initial surveillance period of 1.5 months. CONCLUSIONS: Active-sonographic-surveillance halved the number of children requiring treatment, did not increase the duration of treatment, and yielded similar results at 1-year follow-up. Given a reported prevalence of 1.3% for mildly dysplastic but stable hips, a strategy of active surveillance would reduce the overall treatment rate by 0.6%. Our results may have important implications for families as well as for health care costs.

ABSTRACT. Objectives. To investigate the incidence, causes, predictors, and outcomes of septicemia in the first week of life in a national cohort of extremely premature infants.Methods. A prospective study of survival of all infants with gestational age of <28 weeks or birth weight of <1000 g who were born in Norway in 1999 -2000 was performed. Data on the maternal prenatal history, delivery, and neonatal course, including detailed information on episodes of microbiologically verified septicemia, were collected on predefined forms. Septicemia was reported in 2 groups, ie, episodes diagnosed on the day of delivery (ie, very early-onset septicemia [VEOS]) and episodes diagnosed from day 2 to day 7 of life (ie, earlyonset septicemia [EOS]). Logistic regression models were used for the selection of variables for predictor analysis in each group.Results. Of 462 included infants, VEOS occurred for 15 (32.5 per 1000 population) and EOS for 15 (35.5 per 1000 population). The most prevalent bacteria were Escherichia coli in VEOS (n ‫؍‬ 9) and staphylococci (coagulase-negative staphylococci and Staphylococcus aureus) (n ‫؍‬ 15) in EOS. Case fatality rates were 40% and 13%, respectively. Independent predictive factors for VEOS were clinical chorioamnionitis (odds ratio [OR]: 10.5; 95% confidence interval [CI]: 3.3-33.4) and high maternal age (OR: 1.2; 95% CI: 1.0-1.3), whereas not receiving systemic antibiotic therapy within 2 days of age (OR: 13.6; 95% CI: 3.7-50.2) and receiving nasal continuous positive airway pressure (n-CPAP) support at 24 hours of age (OR: 9.8; 95% CI: 2.5-38.4) independently predicted septicemia after the first day of life.Conclusions. Whereas vertically transmitted septicemia was dominated by Gram-negative bacteria, with predictors being exclusively of maternal origin, EOS was dominated by typically nosocomial flora, with n-CPAP treatment at 24 hours of age being a powerful predictor. Early n-CPAP treatment, as opposed to mechanical ventilation, as a powerful predictor of septicemia in the early neonatal period, even with adjustment for early systemic antibiotic treatment, is a new observation among extremely premature infants that warrants additional study. Pediatrics 2005;115:e262-e268. URL: www.pediatrics.org/cgi/ doi/10.1542/peds.2004-1834; early-onset septicemia, neonatal septicemia, population-based study, prospective study, very low birth weight, extreme prematurity, predictor analysis, logistic regression.

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The first 16 years of a standardised selective US screening programme for developmental dysplasia of the hip resulted in acceptable rates of early treatment and US follow-ups and low rates of late subluxated/dislocated hips compared to similar studies.

A case of congenital absence of the nose is presented. The etiology of this rare condition is unknown. A review of the literature reveals that the previously applied terms, e.g. 'arhinia', are unclear. In the reviewed cases there seems to be a pattern of facial anomalies associated with nasal absence. In most cases, one could probably expect a lack of the olfactory bulbs and tracts. We suggest a new terminology and summarize the aims of the radiological evaluation of this condition.