Use of procalcitonin as a biomarker for sepsis in pediatric burns.

Infection and sepsis continue to be the leading cause of morbidity and death in burn injuries. Diagnosing sepsis in burns is challenging as signs and symptoms of sepsis are not specific and overlap with those related to the burn injury. While the use of procalcitonin (PCT) as a biomarker is recommended for diagnosing sepsis in burns, evidence for children with burns is scarce. In this study, we aimed to investigate the role of PCT in distinguishing sepsis in pediatric burns. A prospective observational study was conducted in a single pediatric burn unit. Children hospitalized with burns ≤ 30% of total body surface area were included while patients with chemical burn, inhalation injury, or concomitant chronic diseases were excluded. Patients were classified into three groups for sepsis, systemic inflammatory response syndrome (SIRS), or controls using the American Burn Association (ABA) criteria. The predictive role of C-reactive protein (CRP) and PCT was investigated for distinguishing sepsis. Seventy-two patients were included in the study. The median total body surface area (TBSA) size was 12% (2.0-28.5%), and the median abbreviated burn severity index (ABSI) score was 3 (2-7). The median length of burn unit stay was 9.5 days (1-59 days). Sepsis was diagnosed in 11 patients (15.2%), and SIRS was present in 23 patients (40.0%), whereas 38 patients (52.8%) had neither SIRS nor sepsis (control group). Receiver operating characteristic analysis revealed that CRP and PCT levels distinguished sepsis patients from non-sepsis patients while PCT had a higher positive predictive value (50.0% vs. 45.0%). Optimal cutoff values of CRP and PCT for distinguishing sepsis were 66.75 mg/L and 0.95 ng/mL. CONCLUSIONS: PCT levels could distinguish sepsis in children with burn injuries, performing better than CRP levels. Confirmatory studies are needed to evaluate the development of sepsis and the role of PCT in diagnosing sepsis in pediatric burn patients. WHAT IS KNOWN: • Even though there are excellent criteria for the diagnosis of infection and sepsis in children and several clinical parameters and biomarkers are being studied, it's difficult to diagnose burn wound sepsis in children. WHAT IS NEW: • Data from this study showed that procalcitonin levels performed better than CRP levels as a biomarker for distinguishing sepsis from systemic inflammatory response syndrome (SIRS) in children with burn injuries.

Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome.

Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. We present a male patient who was admitted to our center with clinical findings of hypotonia-cystinuria syndrome and diagnosed with megaconial congenital muscular dystrophy and cystinuria. Case Presentation: A 16-month-old male patient was admitted with complaints of restlessness and body laxity. It was stated that the patient had hypotonia and growth retardation at the age of 2 months. Physical examination revealed mild hypotonia, growth retardation, and development delay, while laboratory examinations identified elevated serum creatine kinase and elevated dibasic amino acid in urine analysis. Because of the findings of hypotonia, growth retardation, developmental delay, and cystinuria, hypotonia-cystinuria syndrome was considered as a differential diagnosis. However, by chromosomal microarray no contiguous deletion in region 2p21 was found, while a novel homozygous c.225-2A>T pathogenic variant in the CHKB gene and a c.1266_1267delGT heterozygous variant in the SLC7A9 gene inherited from the mother were identified with whole-exome sequencing. The co-occurrence of megaconial congenital muscular dystrophy and cystinuria, mimicking hypotonia-cystinuria syndrome, was confirmed. Conclusion: This case suggests that in countries with a high frequency of consanguineous marriage, even if the molecular genetic analysis results are not compatible with the clinical findings, it should be kept in mind that different genetic diseases may coexist.

A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.

ABSTRACT: Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable features of this condition include failure to thrive, and developmental delay or intellectual disability. Additional symptoms consist of cognitive impairment, skeletal and dental abnormalities, delayed motor milestones, cardiomyopathy, dysphagia, and respiratory insufficiency. MLASA has previously been associated with mutations in pseudouridylate synthase 1 (PUS1) and YARS2. PUS1 encodes the nuclear PUS1 enzyme, which is located in both the nucleus and the mitochondria. PUS1 converts uridine into pseudouridine in several cytosolic and mitochondrial transfer RNA positions and increases the efficiency of protein synthesis in both compartments.In the present report, we report on 2 Turkish sisters 4 and 11 of years with an MLASA plus phenotype. Both patients have sideroblastic anemia, lactic acidosis, failure to thrive, developmental delay, and chronic diarrhea; in addition, the older sister has strabismus and skeletal anomalies. The sequencing of the PUS1 gene revealed a novel homozygous p.Glu311* mutation. The phenotype of the older sibling is also unique because of the strabismus and skeletal anomalies, when compared with her sister and other previously reported patients with MLASA. The structural differences in the nuclear versus mitochondrial isoforms of PUS1 and modifier genes may be implicated in the variability of the clinical presentations in MLASA. CONCLUSION: This report adds to the growing number of mutations causing complex clinical manifestations of MLASA including lactic acidosis, sideroblastic anemia, chronic diarrhea, and myopathy.