Orbital Subperiosteal Hematoma in the Newborn Causing Unilateral Proptosis: Ultrasound as First-Line Imaging Modality.

Proptosis in the neonatal period is relatively infrequent and has diverse underlying etiologies. One of the more common causes appears to be orbital subperiosteal hematoma. Early detection, differentiation from other causes, and regular follow-up are essential as loss of vision can occur. We describe two cases of neonatal proptosis caused by orbital subperiosteal hematoma highlighting different diagnostic and management approaches, and provide a summary of previously reported cases. Spontaneous resolution occurs in most cases; however, emergent surgical evacuation is warranted in cases of optic nerve compression. This is the first report to provide orbital ultrasound images of uncomplicated neonatal orbital subperiosteal hematoma. Orbital ultrasound followed by magnetic resonance imaging (MRI) is a valid nonradiation approach for assessing neonatal proptosis due to subperiosteal orbital hematoma.

Lactobacillus Sepsis following a Laparotomy in a Preterm Infant: A Note of Caution.

Probiotics for preterm infants have been shown to reduce the incidence of necrotising enterocolitis and all-cause mortality in a recent meta-analysis. It has been argued, however, that some of these results may not be applicable to specific subgroups, e.g. infants with a birth weight of <1,000 g. The specific role of probiotics in improving health outcomes in preterm and term infants following intestinal surgery is not well defined. We report a case of a premature infant diagnosed with late-onset sepsis due to Lactobacillus rhamnosus following a laparotomy. We review pertinent published cases. This case highlights the importance of considering preterm infants as being at a higher risk of systemic probiotic infection following intestinal surgery.

Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.

Mitochondrial disease can present with a wide range of clinical phenotypes, and knowledge of the clinical spectrum of mitochondrial DNA mutation is constantly expanding. Leigh syndrome (LS) has been reported to be caused by the m.13513G>A mutation in the ND5 subunit of complex I (MT-ND5 m.13513G>A). We present a case of a 12-month-old infant initially diagnosed with tachyarrhythmia requiring defibrillation, subsequent presentation with hypertension and hyponatraemia secondary to renal salt loss and presumed inappropriate ADH secretion. Complex I activity in the muscle tissue was 54%, and mutation load in the muscle and lymphocytes was 50%. This case of Leigh syndrome caused by the m.13513G>A mutation in the ND5 gene illustrates that hyponatraemia due to renal sodium loss and inappropriate ADH secretion and hypertension can be features of this entity in addition to the previously reported cardiomyopathy and WPW-like conduction pattern and that they present additional challenges in diagnosis and management.

The outcome of treatment limitation discussions in newborns with brain injury.

BACKGROUND: Most deaths in severely brain-injured newborns in neonatal intensive care units (NICUs) follow discussions and explicit decisions to limit life-sustaining treatment. There is little published information on such discussions. OBJECTIVE: To describe the prevalence, nature and outcome of treatment limitation discussions (TLDs) in critically ill newborns with severe brain injury. DESIGN: A retrospective statewide cohort study. SETTING: Two tertiary NICUs in South Australia. PATIENTS: Ventilated newborns with severe hypoxic ischaemic encephalopathy and periventricular/intraventricular haemorrhage (P/IVH) admitted over a 6-year period from 2001 to 2006. MAIN OUTCOME MEASURES: Short-term outcome (until hospital discharge) including presence and content of TLDs, early childhood mortality, school-age functional outcome. RESULTS: We identified 145 infants with severe brain injury; 78/145 (54%) infants had documented TLDs. Discussions were more common in infants with severe P/IVH or hypoxic-ischaemic encephalopathy (p<0.01). Fifty-six infants (39%) died prior to discharge, all following treatment limitation. The majority of deaths (41/56; 73%) occurred in physiologically stable infants. Of 78 infants with at least one documented TLD, 22 (28%) survived to discharge, most in the setting of explicit or inferred decisions to continue treatment. Half of long-term survivors after TLD (8/16, 50%) were severely impaired at follow-up. However, two-thirds of surviving infants with TLD in the setting of unilateral P/IVH had mild or no disability. CONCLUSIONS: Some critically ill newborn infants with brain injury survive following TLDs between their parents and physicians. Outcome in this group of infants provides valuable information about the integrity of prognostication in NICU, and should be incorporated into counselling.

Rearrangement and expression of myeov and hst in NIH/3T3 transfectants: a caveat for the interpretation of DNA transfection analyses.

By means of the tumorigenicity assay applying DNA from a patient with a gastric carcinoma (MA) we have already reported the identification of the putative oncogene myeov. In addition we have shown its involvement in t(11;14)-positive multiple myelomas and amplifications of breast tumours and esophageal carcinomas. The failure of myeov cDNA to induce tumour formation in NIH/3T3 cells prompted us to analyze the human sequences present in our MA-T1a1 tertiary transfectants. Sequence analysis revealed the presence of the human oncogene hst (fgf4) at a distance of approximately 9kb from the myeov gene in our MA-T1a1 tertiary transfectants. Both myeov and hst (fgf4) are normally situated approximately 475-kb apart at band 11q13, a region that is frequently amplified and overexpressed in various tumours. Southern and Northern blot analyses confirmed our sequence data and showed rearrangement of hst sequences during the transfection process and its expression in our MA-T1a1 tertiary transfectants.

Activation of gef-h1, a guanine nucleotide exchange factor for RhoA, by DNA transfection.

Several oncogenes isolated by the NIH/3T3 transformation assay, i.e., dbl, dbs, lbc, lfc, lsc, net, ost and tim, contain a Dbl homology (DH) and a pleckstrin-homology (PH) domain and act as GEFs (guanine nucleotide exchange factors) for Rho-like GTPases. In a search for genes with oncogenic potential in DNA from the monocytic leukaemia cell line U937, we identified an amino-terminal truncated form of gef-h1, a gene encoding a GEF for RhoA. These data support the idea that a systematic search for mutations and/or deletions of GEFs in human cancer is promising.