Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage

Background: Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited disorder of fatty acid beta-oxidation. Signs and symptoms of MCADD typically appear during infancy or early childhood and include vomiting, lethargy, and hypoglycemia. Pulmonary haemorrhage has previously been described in patients with MCADD, but has always been considered a pre-terminal complication caused by heart failure. Case presentation: We report on a newborn term infant that presented on the second day of life with signs of encephalopathy, followed by hypovolemia and respiratory distress caused by a severe pulmonary haemorrhage. Fluid resuscitation and mechanical ventilation were initiated and the coagulopathy was corrected by the administration of fresh frozen plasma. Echocardiography revealed a normal cardiac function. After 6 days of full intensive care, the patient survived without sequellae. The clinical presentation in absence of signs of infection raised a strong suspicion for a metabolic disorder and genetic testing revealed MCADD due to a homozygous A985G mutation. Conclusion: The key towards successful management of severe pulmonary haemorrhage in newborns with a coagulopathy and suspicion of an underlying metabolic disorder consists of adequate mechanical ventilation and aggressive use of fresh frozen plasma, while treating the metabolic decompensation and initiating an early diagnostic work-up. MCADD can lead to acute decompensation and present with complications such as pulmonary haemorrhage independent of cardiac function. Hence, in the context of MCADD, pulmonary haemorrhage should not be considered a pre-terminal complication caused by heart failure, and rather than withdrawing care, intensive treatment must be initiated

Using an audit tool (MAPS Global) to assess the characteristics of the physical environment related to walking for transport in youth : reliability of Belgian data

Background: The aim was to examine inter-rater and alternate-form reliability of the Microscale Audit of Pedestrian Streetscapes (MAPS) Global tool to assess the physical environment along likely walking routes in Belgium. Methods: For 65 children participating in the BEPAS-children study, routes between their individual homes and the nearest pre-defined destination were defined. Using MAPS Global, physical environmental characteristics of the routes were audited by 4 trained auditors (2 on-site, 2 online using Google Street View). Inter-rater reliability was studied for on-site and online ratings separately. Alternate-form reliability was examined by comparing on-site with online ratings. Results: Inter-rater reliability for on-site ratings was acceptable for 68% of items (kappa range 0.03–1.00) and for online ratings for 60% of items (kappa range −0.03 to 1.00). Acceptable alternate-form reliability was reported for 60% of items (kappa range −0.01 to 1.00/r range 0.31–1.00). Conclusions: MAPS Global can be used to assess the physical environment of potential walking routes. For areas where Google Street View imagery is widely covered and often updated, MAPS Global can be completed online

Photography-based taxonomy is inadequate, unnecessary, and potentially harmful for biological sciences

The question whether taxonomic descriptions naming new animal species without type specimen(s) deposited in collections should be accepted for publication by scientific journals and allowed by the Code has already been discussed in Zootaxa (Dubois & Nemésio 2007; Donegan 2008, 2009; Nemésio 2009a–b; Dubois 2009; Gentile & Snell 2009; Minelli 2009; Cianferoni & Bartolozzi 2016; Amorim et al. 2016). This question was again raised in a letter supported by 35 signatories published in the journal Nature (Pape et al. 2016) on 15 September 2016. On 25 September 2016, the following rebuttal (strictly limited to 300 words as per the editorial rules of Nature) was submitted to Nature, which on 18 October 2016 refused to publish it. As we think this problem is a very important one for zoological taxonomy, this text is published here exactly as submitted to Nature, followed by the list of the 493 taxonomists and collection-based researchers who signed it in the short time span from 20 September to 6 October 2016

Blood culture indications in critically ill neonates: a multicenter prospective cohort study

Due to potential lethality of healthcare-associated sepsis (HAS), a low threshold for blood culturing and antimicrobial therapy (ABT) initiation is accepted. We assessed variability in the trigger for blood culturing between three neonatal intensive care units. A multicenter prospective cohort study was conducted. In newborns with suspicion of HAS, 10 predefined clinical signs, nosocomial sepsis (NOSEP) score, C-reactive protein, ABT initiation, and risk factors were registered at time of culturing. Outcome was lab-confirmed HAS, defined according to the NeoKISS-criteria. Two hundred ninety-nine suspected HAS episodes were considered in 212 infants, of which 118 had birth-weight ≤ 1500\ua0g; proportion of lab-confirmed HAS per suspected episode was 30/192 (center 1), 28/60 (center 2), and 8/47 (center 3) (p

A microRNA Approach to Discriminate Cortical Low Bone Turnover in Renal Osteodystrophy.

A main obstacle to diagnose and manage renal osteodystrophy (ROD) is the identification of intracortical bone turnover type (low, normal, high). The gold standard, tetracycline-labeled transiliac crest bone biopsy, is impractical to obtain in most patients. The Kidney Disease Improving Global Outcomes Guidelines recommend PTH and bone-specific alkaline phosphatase (BSAP) for the diagnosis of turnover type. However, PTH and BSAP have insufficient diagnostic accuracy to differentiate low from non-low turnover and were validated for trabecular turnover. We hypothesized that four circulating microRNAs (miRNAs) that regulate osteoblast (miRNA-30b, 30c, 125b) and osteoclast development (miRNA-155) would provide superior discrimination of low from non-low turnover than biomarkers in clinical use. In 23 patients with CKD 3-5D, we obtained tetracycline-labeled transiliac crest bone biopsy and measured circulating levels of intact PTH, BSAP, and miRNA-30b, 30c, 125b, and 155. Spearman correlations assessed relationships between miRNAs and histomorphometry and PTH and BSAP. Diagnostic test characteristics for discriminating low from non-low intracortical turnover were determined by receiver operator curve analysis; areas under the curve (AUC) were compared by χ2 test. In CKD rat models of low and high turnover ROD, we performed histomorphometry and determined the expression of bone tissue miRNAs. Circulating miRNAs moderately correlated with bone formation rate and adjusted apposition rate at the endo- and intracortical envelopes (ρ = 0.43 to 0.51; p < 0.05). Discrimination of low versus non-low turnover was 0.866, 0.813, 0.813, and 0.723 for miRNA-30b, 30c, 125b, and 155, respectively, and 0.509 and 0.589 for PTH and BSAP, respectively. For all four miRNAs combined, the AUC was 0.929, which was superior to that of PTH and BSAP alone and together (p < 0.05). In CKD rats, bone tissue levels of the four miRNAs reflected the findings in human serum. These data suggest that a panel of circulating miRNAs provide accurate noninvasive identification of bone turnover in ROD. © 2020 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.status: Published onlin