Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

BACKGROUND: Recessive LARS mutations were recently reported to cause a novel syndrome, infantile liver failure syndrome type 1 (ILFS1), in six Irish Travellers. We have since identified four additional patients, including one of Ashkenazi origin, representing the largest ILFS1 cohort to date. Our study aims to define the ILFS1 clinical phenotype to help guide diagnosis and patient management. METHODS: We clinically evaluated and reviewed the medical records of ten ILFS1 patients. Clinical features, histopathology and natural histories were compared and patient management strategies reviewed. RESULTS: Early failure to thrive, recurrent liver dysfunction, anemia, hypoalbuminemia and seizures were present in all patients. Most patients (90 %) had developmental delay. Encephalopathic episodes triggered by febrile illness have occurred in 80 % and were fatal in two children. Two patients are currently >28 years old and clinically well. Leucine supplementation had no appreciable impact on patient well-being. However, we suggest that the traditional management of reducing/stopping protein intake in patients with metabolic hepatopathies may not be appropriate for ILFS1. We currently recommend ensuring sufficient natural protein intake when unwell. CONCLUSIONS: We report the first non-Irish ILFS1 patient, suggesting ILFS1 may be more extensive than anticipated. Low birth weight, early failure to thrive, anemia and hypoalbuminemia are amongst the first presenting features, with liver dysfunction before age 1. Episodic hepatic dysfunction is typically triggered by febrile illness, and becomes less severe with increasing age. While difficult to anticipate, two patients are currently >28 years old, suggesting that survival beyond childhood may be associated with a favourable long-term prognosis.

Secondary traumatic stress among domestic violence advocates: workplace risk and protective factors.

This study identified workplace factors associated with secondary traumatic stress (STS) in a sample of 148 domestic violence advocates working in diverse settings. Findings indicate that coworker support and quality clinical supervision are critical to emotional well-being and that an environment in which there is shared power-that is, respect for diversity, mutuality, and consensual decision making-provides better protection for advocates than more traditional, hierarchical organizational models. Furthermore, shared power emerged as the only workplace variable to significantly predict STS above and beyond individual factors. The discussion includes implications for practice and policy as well as directions for future research.

Timing of administration of antenatal magnesium sulfate and umbilical cord blood magnesium levels in preterm babies.

BACKGROUND: The optimum timing of administration of magnesium sulfate (MgSO4) in relation to delivery is not known. The general consensus is to achieve administration to the mother at least 4 hours prior to preterm delivery. OBJECTIVE: To investigate potential predictors of umbilical cord blood magnesium (Mg) concentrations, in particular, timing of antenatal MgSO4 administration in relation to delivery. STUDY DESIGN: A prospective observational study of infants delivered at less than 32 weeks' gestational age. Cord bloods samples were collected at delivery and Mg levels analyzed. RESULTS: Of the 81 included cases, five received no antenatal MgSO4, 65 received a 4 g bolus only, and 11 received a 4 g bolus and 1 g/hour infusion. The median time of bolus administration before delivery was 104 minutes (IQR: 57-215). The mean magnesium level was 0.934 mmol/L in the no antenatal MgSO4 group, 1.018 mmol/L in the bolus only group, and 1.225 mmol/L in the bolus and infusion group (p < .05). In the bolus only group, the highest mean magnesium concentration (1.091 mmol/L) was achieved with administration 1-2 hours before delivery, but the difference was small and not statistically significant. On multiple regression analysis, lower birthweight Z scores and gestational age were independently associated with higher cord blood Mg levels. CONCLUSIONS: In the bolus only group, the highest mean Mg levels were observed with administration 1-2 hours before delivery, but the findings were not statistically significant. Compared to the rest of the cohort, higher Mg levels were found when a bolus was followed by an infusion. Following a MgSO4 bolus, some growth restricted extremely preterm babies may have higher Mg levels than would be otherwise expected.