ABSTRACT
We report a 1-day-old girl who was affected by peritonitis and bacteremia caused by Clostridium tertium following perforation of congenital intestinal atresia. Splenic infarction was also suspected during C. tertium bacteremia. C. tertium was identified by using mass spectrometry and 16S rRNA sequencing. This patient was successfully treated with emergency laparotomy and broad-spectrum antibiotics.
Subject(s)
Bacteremia/microbiology , Clostridium Infections/microbiology , Clostridium tertium/isolation & purification , Peritonitis/microbiology , Vancomycin/therapeutic use , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/therapeutic use , Clostridium Infections/pathology , Female , Humans , Infant, Newborn , Meropenem/administration & dosage , Meropenem/therapeutic use , Splenic Infarction/pathology , Splenic Infarction/surgery , Vancomycin/administration & dosageABSTRACT
BACKGROUND: Congenital chloride diarrhea (CCD) is characterized by persistent chloride (Cl)-rich diarrhea evident from birth. CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl- /HCO3- , Na+ -independent exchanger. Various mutations of SLC26A3 have been described in CCD. However, no de novo mutations have been found to be responsible for CCD. Here we report the first such occurrence. METHODS: Clinical and laboratory findings during the perinatal period were obtained retrospectively from medical records. Mutations involving SLC26A3 were detected by Sanger sequencing. RESULTS: The male infant reported here was delivered at 29 weeks of gestation. Just after birth, he had watery diarrhea without meconium passage. High chloride concentrations in the diarrhea led to a diagnosis of CCD. Direct sequencing of all coding exons in SLC26A3 including exon-intron boundaries disclosed 2 compound heterozygous mutations: c.382G>A, p.G128S and c.2063-1g>t. The c. 2063-1g>t mutation was confirmed in his mother's DNA, but c.382G>A, p.G128S was absent in both mother and father. CONCLUSION: We concluded that c.382G>A, p.G128S represented a de novo mutation of SLC26A3, a very rare event in autosomal recessive disorders. To our knowledge, this is the first CCD case involving a de novo novel mutation of SLC26A3.
Subject(s)
Chloride-Bicarbonate Antiporters/genetics , Diarrhea/congenital , Metabolism, Inborn Errors/genetics , Mutation , Sulfate Transporters/genetics , Diarrhea/genetics , Diarrhea/pathology , Humans , Infant, Newborn , Male , Metabolism, Inborn Errors/pathologyABSTRACT
OBJECTIVES: This study aimed to describe postnatal physiological changes in maximum values of peak electrical activity of the diaphragm (Edi) in extremely preterm infants during the preterm period. WORKING HYPOTHESIS: The amplitude and frequency of neural sigh are different at each postmenstrual age in extremely preterm infants. STUDY DESIGN: A retrospective, observational study. PATIENT-SUBJECT SELECTION: Edi values were evaluated in 14 extremely preterm infants with neurally-adjusted ventilatory assist. METHODOLOGY: Data of Edi peak and Edi minimum were collected from a ventilator. Edi-sigh was defined as the Edi peak value that was more than twice as large as the median Edi peak at each postmenstrual week in each patient. The frequency of Edi-sigh, and median values of Edi-sigh, Edi peak, and Edi minimum were evaluated at each postmenstrual week. The Jonckheere-Terpstra test was used to analyze the trend between postmenstrual weeks and Edi values. RESULTS: From 26 to 35 postmenstrual weeks, the number of Edi-sighs per hour significantly increased as postmenstrual weeks increased (P < .001). Furthermore, the median values of Edi-sigh significantly increased as postmenstrual weeks increased (16.9 µV at 26 weeks to 25.4 µV at 35 weeks, P < .001). There were no significant changes in the median values of Edi peak and Edi minimum at each week. CONCLUSIONS: The amplitude and frequency of neural sigh in extremely preterm infants increase with the number of postmenstrual weeks.
