Novel Mutation of SLC26A3 Gene Observed in Congenital Chloride Diarrhea

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene on chromosome 7q31. Affected neonates are vulnerable to dehydration, electrolyte imbalance in the form of hyponatremia, metabolic alkalosis, failure to thrive, or even death if left untreated. Genetic testing for mutations should be considered if the clinical diagnosis remains uncertain because early diagnosis and appropriate management are critical to the disease course in CLD. Several mutations have been reported in Korean patients with CLD, with the most common being the c.2063-1G>T mutation. Here, we report the case of a neonate with prenatally suspected CLD with confirmed novel mutations in the SLC26A3 gene (c.2147C>G; p.Ala716Gly).

Predictive Factors for Severe Thrombocytopenia and Classification of Causes of Thrombocytopenia in Premature Infants

PURPOSE: This study investigated predictive factors for severe neonatal thrombocytopenia, which greatly increases the need for intensive care and is associated with a high mortality rate in premature infants. Factors adopted for prompt identification of at-risk newborns include blood test results and birth history. This study analyzed the relationship between the presence of severe neonatal thrombocytopenia and the mortality rate. The causes of thrombocytopenia in premature infants were also examined. METHODS: This retrospective study evaluated 625 premature infants admitted to the neonatal intensive care unit (NICU) at Chung-Ang University Medical Center. The neonates were classified into 3 groups according to the severity of thrombocytopenia: mild (100×10⁹/L≤platelet < 150×10⁹/L), moderate (50×10⁹/L≤platelet < 100×10⁹/L), or severe (platelet < 50×10⁹/L). Analysis of blood samples obtained at the onset of thrombocytopenia included platelet count, white blood cell (WBC) count, hemoglobin level, hematocrit level, absolute neutrophil count, and high-sensitivity C-reactive protein level. RESULTS: Of the 625 premature infants admitted to our NICU, 214 were detected with thrombocytopenia. The mortality rate in thrombocytopenic neonates was 18.2% (39/214), whereas a mortality rate of only 1.0% was observed in non-thrombocytopenic neonates. The major causes of thrombocytopenia were perinatal insufficiency and sepsis in premature infants. Severe thrombocytopenia was noted more frequently in premature infants with higher WBC counts and in those with a younger gestational age. CONCLUSION: Platelet count, WBC count, and gestational age are reliable predictors for severe neonatal thrombocytopenia. The major causes of thrombocytopenia were perinatal insufficiency and sepsis in premature infants.

Application of ultrasound guided thoracic paravertebral blockade combined with dexmedetomidine in tho-racoscopic sympathectomy / 临床麻醉学杂志

Objective To evaluate the anesthetic effect of ultrasound guided thoracic paraverte-bral blockade combined with intravenous dexmedetomidine in thoracoscopic sympathectomy. Methods Eighty patients (38 male and 42 female ) undergoing selected thoracoscopic sympathectomy,aged from 16 to 28 years,in ASA physical status Ⅰ or Ⅱ,were equally divided into study group and control group,40 patients in each,according to random number table.Fifteen mi-nutes before paravertebral blockade,while study group received loading dose (0.5 μg/kg)of dexme-detomidine (4 μg/ml)intravenously within 10 min and received continuous intravenous pumping (0.3-0.5 μg·kg-1·h-1 )throughout the operation,control group received isovolumetric normal saline in the same pattern.Patients'heart rate (HR),respiratory rate (RR),mean arterial pressure (MAP),SpO 2 ,observer's assessment of alertness/sedation (OAA/S)scale and adverse reactions were recorded in several time points,namely timing of entrance (T0 ),timing of paravertebral block-ade (T1 ),timing of skin incision (T2 ),timing of sympathectomy (T3 )and the end (T4 ),respective-ly.Results Compared to the control group,while MAP and HR in the study group were obviously decreased through T1-T4 (P <0.05),RR was obvious increased in T2 and T3 (P <0.05)and OAA/S scale was obviously lowered in the study group (P <0.05 ).The study group and the control group had one case and two cases of adverse reaction,respectively,with no significant difference between the two groups.Conclusion The application of ultrasound guided thoracic paravertebral blockade combined with intravenous dexmedetomidine in thoracoscopic sympathectomy is safe and effective.