ABSTRACT
CONTEXT: Bilirubin has been shown to influence the mechanisms of both apoptosis and inflammation. AIMS: The aim of the following study is to investigate the relationship between the serum bilirubin level with sepsis progression. SETTINGS AND DESIGN: A total of 20 patients from intensive care unit were included for this study. MATERIALS AND METHODS: Patients were divided into two groups: Patients diagnosed with sepsis according to the American College of Chest Physicians/Society of Clinical Care Medicine consensus conference criteria (n0 = 10) and patients treated for various other diagnoses ( n = 10). Blood samples were collected for both groups at the time of origin (defined as the time of diagnosis) and 24 and 48 h after diagnosis. Serum interleukin (IL)-6, IL-10 and bilirubin levels were analyzed and compared. Acute physiology and chronic health evaluation (APACHE) II and sepsis related organ failure (SOFA) scores of the patients were also evaluated. STATISTICAL ANALYSIS USED: We used Statistical Package for Social Sciences (SPSS for Windows, version 17.0, SPSS Inc. 233 South Wacker Drive, Chicago) for statistical analysis. RESULTS: At all-time intervals, serum IL-6, IL-10 and total, direct and indirect serum bilirubin levels were significantly higher in the sepsis group ( P < 0.05); APACHE II and SOFA scores were also significantly higher. Both SOFA scores and serum IL-10 levels were positively correlated with bilirubin levels 24 h after diagnosis (P < 0.05, r = -0.76). CONCLUSIONS: Although levels of bilirubin and other associated parameters were higher for the sepsis group, only SOFA score and bilirubin levels were correlated. Because bilirubin is already a SOFA parameter, this correlation was not considered as clinically significant.
Subject(s)
Interleukin-10/blood , Interleukin-6/blood , Sepsis/blood , Sepsis/mortality , APACHE , Adolescent , Adult , Aged , Bilirubin , Cohort Studies , Female , Humans , Male , Middle Aged , Turkey/epidemiology , Young AdultABSTRACT
Classical neonatal diabetes mellitus is defined as hyperglycemia that occurs within the first month of life in term infants. It can be either permanent or transient. Cerebellar agenesis and permanent neonatal diabetes has been previously reported as a new autosomal recessive disorder. Pancreas Transcription Factor 1 Alpha (PTF1A) mutations have been related with this constellation of abnormalities. Here we report a new case of cerebellar agenesis and neonatal diabetes mellitus whose parents are PTF1A mutation carriers.
Subject(s)
Cerebellum/abnormalities , DNA Mutational Analysis , Diabetes Mellitus, Type 1/genetics , Transcription Factors/genetics , Cerebellum/parasitology , Consanguinity , Cordocentesis , Diabetes Mellitus, Type 1/diagnosis , Fetal Growth Retardation/genetics , Frameshift Mutation , Genetic Carrier Screening , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Male , Pedigree , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/geneticsABSTRACT
Schwartz-Jampel syndrome is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and growth retardation. Three types have been described: type 1A, usually recognized in childhood, with moderate bone dysplasia; type 1B similar to type 1A but recognizable at birth, with more prominent bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. In this paper we report three pediatric cases, one with neonatal manifestation.
