Clinically significant variation in intravenous insulin delivery will occur in the neonatal setting unless counter-measures are taken, such as sequential preconditioning and flushing of the delivery system or the addition of albumin to the infusate.
Background: The first consensus standardised neonatal parenteral nutrition formulations were implemented in many neonatal units in Australia in 2012. The current update involving 49 units from Australia, New Zealand, Singapore, Malaysia and India was conducted between September 2015 and December 2017 with the aim to review and update the 2012 formulations and guidelines. Methods: A systematic review of available evidence for each parenteral nutrient was undertaken and new standardised formulations and guidelines were developed. Results: Five existing preterm Amino acid-Dextrose formulations have been modified and two new concentrated Amino acid-Dextrose formulations added to optimise amino acid and nutrient intake according to gestation. Organic phosphate has replaced inorganic phosphate allowing for an increase in calcium and phosphate content, and acetate reduced. Lipid emulsions are unchanged, with both SMOFlipid (Fresenius Kabi, Australia) and ClinOleic (Baxter Healthcare, Australia) preparations included. The physicochemical compatibility and stability of all formulations have been tested and confirmed. Guidelines to standardise the parenteral nutrition clinical practice across facilities have also been developed. Conclusions: The 2017 PN formulations and guidelines developed by the 2017 Neonatal Parenteral Nutrition Consensus Group offer concise and practical instructions to clinicians on how to implement current and up-to-date evidence based PN to the NICU population.
The first reported case of clinically significant congenital Factor VII deficiency in association with the 13q deletion syndrome is presented. It illustrates the importance of knowledge of the specific genes involved in gross deletion syndromes and adds to the current clinical experience of this rare disease. Am. J.
CASE REPORTA 2-year-old ethnic Chinese female presented with hematemesis and melena. She had severe intellectual disability and dysmorphic features attributable to known 13q deletion syndrome, karyotype 46,XX,del(13q32-34). A gastrostomy had been placed at age 14 months. This procedure was not associated with any abnormal bleeding. There was no history of easy bruising, epistaxis or hemarthroses.Microscopic hematuria had been noted over the preceding 6 months; however, investigations including urine culture, urine calcium/creatinine ratio, complement studies, anti-streptococcal titers, renal ultrasound, plain abdominal radiographs, and parental urinalysis did not reveal a cause.The child was admitted with a 5-day history of hematemesis and melena. Laboratory investigations demonstrated hemoglobin 80 g/L and platelet count 596 × 10 9 /L. Liver function tests were normal; however, the prothrombin time (PT) was significantly prolonged at 38 sec. The activated partial thromboplastin time (APTT) was slightly low at 23 sec (normal range, 27-37 sec).Because vitamin K deficiency was thought likely, an infusion of 10 mL/kg of FFP and a 2-mg intravenous dose of vitamin K were given. The FFP infusion was discontinued after 3 mL/kg due to the development of fever, wheezing, and urticaria. Seventy-two hours later the PT remained prolonged at 42 sec.A review of the gene map of chromosome 13 indicated that Factors VII and X are coded on the long arm of chromosome 13, within the deleted region. Functional Factor VII and X assays were performed for the patient and her parents. The index case demonstrated a Factor X level of 49% and a Factor VII level of only 2%. Factor VII deficiency was diagnosed. Maternal results were 94% (Factor X) and 75% (Factor VII), and paternal results were 107% (Factor X) and 134% (Factor VII).Following admission there was no evidence of ongoing bleeding. Subsequently, the patient was commenced on regular tranexamic acid via gastrostomy tube and a course of oral iron therapy. Ten months after the initial admission with hematemesis and melena, there had been no further significant gastrointestinal bleeding, and the anemia had resolved.
DISCUSSIONThere have been no previous reports of patients with 13q deletion syndrome and significant Factor VII deficiency. Pfeiffer [1] described two cases of 13q terminal deletion with associated subclinical deficiency of Factors
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