ABSTRACT
Objective To explore the clinical characteristics and genetic mutation types of the Mediterranean anemia in Guangxi region in the early neonatal period.Methods The observation group was the children who hospitalized in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomons Region during the period of January 2013 and November 2015,and diagnosed Mediterranean anemia were 85 cases.And 85 newborns that were in the hospital at the same time were selected as the control group.The matching condition between the observation group and the control group was the gestational age.We retrospectively analyzed the general situation (birth weight and gender) and the treatment procedure (the characteristic of blood routine examinations;the day-old of the onset of anemia;the endurance of jaundice;assisted ventilation;the time of oxygen therapy;the dayold of enteral feeding;the blood transfusion times) of the two groups.And the gene was detected in the observation group.Results The observation group's days of life [(13.00 ± 3.79) d] of the oral feeding were higher than that [(9.33 ± 1.95) d] of the control group's (t =2.730,P ＜ 0.05);the observation group's frequency [(3.0 ± 1.0) times] of the blood transfusion was higher than that [(1.0 ± 0.2) times] of the control group's (t =4.268,P ＜ 0.05).The observation group's days of life [(4 ± 1) d] of anaemic onset was shorter than that [(8 ± 2) d] of the control group's (t =-3.258,P ＜ 0.05).The mean corpuscular volume [(80 ± 12) fl] in the blood routine of the observation group was smaller than that [(91 ± 28) fl] of the control group (t =6.712,P ＜ 0.05).In the observation group,the mother's age of pregnancy was (29.19 ± 0.91) years,the birth weight of the newborns was (2.356 ± 0.748) kg,the service time of the ventilator was (7.11 ± 5.07) h,the time of continue positive airway pressure was (27.40 ± 15.17) h,the time of the oxygen provision was (84.98 ± 30.65) h,the time of duration of the jaundice last was (10 ± 3) d;and in the control group,the mother's age of pregnancy was (27.9i ± 0.88) years,the birth weight of the newborns was (2.507 ± 0.783) kg,the service time of the ventilator was (6.21 ± 2.55) h,the time of continue positive airway pressure was (9.64 ± 4.89) h,the time of the oxygen provision was(63.07 ± 21.87) h,the time of duration of the jaundice last was (15 ± 2) d.The parameters showed above were not statistically different between the two groups (all P ＞ 0.05).In 85 cases the detection of α-thalassemia in 60 cases,24 patients with β-thalassemia,1 cases of α-thalassemia combined with β-thalassemia.The logistic regression analysis showed that the age of the oral feeding completely (OR =0.233,95％ CI =0.081-0.673) and the times of blood transfusion (OR =6.621,95％ CI =2.777-15.784) were the independence factors of the Mediterranean anemia.Conclusion The early clinical performance of Mediterranean anemia is lack of specificity,and we must improve genetic testing and regulate blood transfusion as soon as possible to the one who has anemia and other clinical manifestations within a week immediately following birth or who is suspected of Mediterranean anemia patients by the blood routine examination.
ABSTRACT
Objective To study the clinical characteristics and imaging features of perinatal autosomal recessive polycystic kidney disease ( ARPKD) and a systematic review of the literature was performed to improve awareness of the disease. Methods A newborn with infantile ARPKD admitted to the neonatal department of our hospital was studied and her clinical data and imaging features retrospectively reviewed. CNKI, CBMdisc, MEDLINE and Embase databases were searched using autosomal recessive, perinatal and polycystic kidney as keywords. 9 case reports were retrieved from 2005 to 2015 and a total of 9 patients were analyzed. Results The gestational age of patients with infantile ARPKD was from 33 to 37 weeks. 6 of them were diagnosed using prenatal ultrasound and one patient was diagnosed using genetic sequencing. One of 10 infants had a family history, 4 patientsˊ mothers had abnormal pregnancy history (spontaneous abortion or miscarriage) and 7 (70. 0%) patients with respiratory failure needed mechanical ventilation. The ultrasound of all the patients showed enlarged and hyperechogenic kidneys. 9 patients died, and only one patient was alive after renal transplant. Conclusions The characteristics of perinatal APRKD are enlarged and polycystic kidneys, hepatic cysts and liver fibrosis. Infants with this disease have poor outcomes and high mortality rate. Respiratory failure and renal failure are the main causes of death in the neonatal period and early diagnosis and treatment are necessary.
ABSTRACT
Bronchopulmonary dysplasia (BPD) is a severe respiratory disease which is common in premature infants.The pathogenesis of BPD has not been clear completely.However,the inflammation factor is considered to be an important pathogenetic factor.In recent years,the understanding of the role of inflammation in the pathogenesis of BPD also has further development at home and abroad.Factors,such as infection,oxidative stress,and mechanical ventilation in the role of inflammation in the pathogenesis of premature BPD are reviewed in this article.