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1.
J Neonatal Perinatal Med ; 13(1): 47-54, 2020.
Article in English | MEDLINE | ID: mdl-31594258

ABSTRACT

BACKGROUND: Early onset bacterial sepsis in neonates (EOS) is recognized as an important health condition. Early diagnosis is crucial. However, blood culture results are released in 48-72 hours. Many biomarkers have been investigated but none have been accepted as the gold standard. This study aimed to investigate the diagnostic value of the molecules: soluble form of triggering receptor expressed on myeloid cells-1 (sTREM-1), pentraxin-3 (PTX-3) and pro adrenomedullin (pro-ADM) in EOS and compare with currently used biomarkers. METHODS: In this multicenter prospective study, patients were enrolled from different NICUs around the Turkey. Patient data were collected via web-based registry system from attending centers. Neonates, hospitalized with a suspicion of EOS were enrolled. Blood culture and routine blood tests were collected and a serum sample was obtained and kept in - 80°C for studying the molecules. According to laboratory results, patients were divided into three groups as; proven sepsis, clinical sepsis and control group. Groups were compared in terms of demographic, clinical and laboratory findings. The primary outcome of the study was to assess any difference between groups in terms of the diagnostic value of the markers aforementioned. RESULTS: A total of 130 patients were enrolled; proven sepsis (n = 36), clinical sepsis (n = 53) and control (n = 41) groups. Groups were similar in terms of demographic findings; mean WBC (P = 0.445), procalcitonin (PCT) (P = 0.083) and IL-6 (P = 0.814) levels. Mean C-reactive protein (CRP) level was significantly higher in clinical sepsis and proven sepsis groups compared to control group (P < 0.001). Mean PTX-3 (P = 0.547), pro-ADM (P = 0.766) and sTREM-1 (P = 0.838) levels were similar between groups. CONCLUSION: These promising molecules failed to help in early diagnosis of EOS. Their relation to correlation with disease progression may make more sense as they seem to be expressed in higher amounts with the progression of the disease in previous studies. CRP was the most frequently used biomarker for detecting the sepsis in our study population.


Subject(s)
Adrenomedullin/blood , C-Reactive Protein/metabolism , Neonatal Sepsis/diagnosis , Protein Precursors/blood , Serum Amyloid P-Component/metabolism , Triggering Receptor Expressed on Myeloid Cells-1/blood , Case-Control Studies , Early Diagnosis , Female , Gestational Age , Humans , Infant, Newborn , Infant, Premature , Interleukin-6/blood , Leukocyte Count , Male , Neonatal Sepsis/blood , Procalcitonin/blood , ROC Curve
3.
Genet Couns ; 24(4): 387-91, 2013.
Article in English | MEDLINE | ID: mdl-24551981

ABSTRACT

Su Partial trisomy 3p and partial monosomy 11q are rare chromosomal disorders with a deletion of part of chromosome 11 combined with a duplication of part of chromosome 3. These are usually inherited from a parent who carries a balanced translocation involving chromosome 3, which can result in the unbalanced translocation trisomy 3p in a child. In this paper, we report a newborn who has dysmorphic facial features, double outlet right ventricle, hypotonia, hypospadias, neonatal thrombocytopenia, hydroureteronephrosis, talipes equinovarus and septum pellucidum et vergae. Cytogenetic investigation revealed 46,XY,der(11)t(3;11)(p22.2;q23.3) and the karyotype of his father showed a balanced translocation, 46XY,t(3;11)(p22.2;p23.3).


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 11/genetics , Monosomy/genetics , Trisomy/genetics , Abnormalities, Multiple/pathology , Abnormalities, Multiple/physiopathology , Chromosomes, Human, Pair 3/genetics , Double Outlet Right Ventricle/genetics , Double Outlet Right Ventricle/pathology , Humans , Infant, Newborn , Karyotype , Male , Monosomy/pathology , Monosomy/physiopathology , Septum Pellucidum/pathology , Trisomy/pathology , Trisomy/physiopathology
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