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Objective:To explore the clinical and genetic features of Xp21 contiguous gene deletion syndrome, in order to improve clinicians′ understanding of the disease.Methods:The clinical manifestations, diagnosis and treatment process as well as genetic characteristics of 3 brothers from 1 family with Xp21 contiguous gene deletion syndrome were studied.Literatures were retrieved with key words including " Xp21 contiguous gene deletion syndrome" and " complex glycerol kinase deficiency" in CNKI, VIP database, Wanfang database, Biomedicine Literature database (PubMed) and Web of Science from the database establishment to December 2019, and the relevant features were reviewed.Results:The surviving proband was a boy, the fourth child and the fourth birth.He was suspected as congenital adrenal hyperplasia(salt-losing type) because of significant hyperpigmentation and obviously increased plasma adrenocorticotropic hormone (ACTH)in the neonatal period.Serum triglyceride and creatine phosphokinase were elevated, and urine analysis revealed massive glyceroluriam in this patient.But his serum 17-hydroxyprogesterone was normal.5.16 Mbp deletion in Xp21.3p21.1 was detected by single nucleotide polymorphisms, and the diagnosis of Xp21 contiguous gene deletion syndrome was confirmed.After the supplements of hydrocortisone and fludrocortisone, pigmentation was improved, and the serum ACTH became normal.Now, the patient was 3 years and 8 months old, having pseudomuscle hypertrophy, intellectual and language developmental delay, but no the electrolyte disorder.His parents and 18-years-old sister were healthy.While his two elder brothers who were suspected as cerebral palsy and muscular atrophy due to the symptoms of dark skin color and psychomotor development delay after birth died at the age of 1 year and 1.5 years, respectively.Deletions in Xp21.3p21.1 region were found in his mother and elder sister.A total of 22 cases with full and complete clinical data and definite genetic diagnosis were collected from domestic and foreign literature, and 13 cases of them had the onset during the neonatal period.The main symptoms were congenital adrenal insufficiency, muscular dystrophy, hypertriglyceridemia, developmental retardation in most cases, and special facial features in a few cases.Besides, these patients had large fragment deletion in Xp21 region and the major deleted genes included NR0B1, GK and DMD genes, etc. Conclusions:Xp21 contiguous gene deletion syndrome has a complex clinical phenotype and is easy to be misdiagnosed, it can lead to adrenal insufficiency and poor prognosis in the neonatal period.It is necessary to make differential diagnosis by serum biochemical and genetic analysis.
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Objective To study the clinical manifestations and antibiotic sensitivity features of early-and late-onset invasive infections caused by group B Streptococcus (GBS). Methods A total of 96 infants with invasive GBS infections were enrolled prospectively from seven tertiary hospitals of GBS Infection Research Cooperative Group in southwest Fujian, such as Xiamen Maternal and Child Care Hospital, etc., from January 2016 to June 2018. According to the onset time of infection after birth, they were divided into early-onset GBS disease (GBS-EOD) group (<7 d, n=67) and the late-onset GBS disease (GBS-LOD) group (7-89 d, n=29). Clinical manifestations, disease spectrum, complications and outcomes of the two groups were compared. Drug sensitivity test was carried out using disk diffusion test. Chi-square or Fisher's exact test, two independent sample t-test or Mann-Whitney U tests were used for statistical analysis. Results (1) The average ages at onset in GBS-EOD and GBS-LOD groups were (15.8±6.7) h (0.5-142.0 h) and (25.0±8.1) d (9-89 d), respectively. The incidence of tachypnea, pallor, fever and convulsion were noted in 68.7% (46/67) vs 44.8% (13/29), 52.2% (35/67) vs 17.2% (5/29), 23.9% (16/67) vs 65.5% (19/29) and 7.5% (5/67) vs 48.3% (14/29) of GBS-EOD and GBS-LOD groups with χ2 values of 6.282, 10.199, 15.146 and 21.237 (all P<0.05). The main clinical manifestations of GBS-EOD were tachypnea and pallor, while most of the patients in the GBS-LOD group developed fever and convulsions. (2) The incidence of pneumonia, sepsis, meningitis, sepsis complicated by septic joints, pneumonia complicated by sepsis, sepsis complicated by meningitis and pneumonia complicated by sepsis and meningitis were noted in 43.3% (29/67) vs 20.7% (6/29), 9.0% (6/67) vs 17.2% (5/29), 0.0% (0/67) vs 3.4% (1/29), 0.0% (0/67) vs 6.9% (2/29), 31.3% (21/67) vs 13.8% (4/29), 6.0% (4/67) vs 31.0% (9/29) and 10.4% (7/67) vs 6.9% (2/29) of GBS-EOD and GBS-LOD groups. There was a statistically significant difference in the disease spectrum between the two groups (Fisher's exact test, all P<0.001). Compared with the GBS-LOD group, the GBS-EOD group had a higher incidence of pneumonia [85.1% (57/67) vs 41.4% (12/29), χ2=19.116, P<0.001] and a lower incidence of meningitis [16.4% (11/67) vs 41.4% (12/29), χ2=6.922, P=0.009]. Complications such as acute respiratory distress syndrome (ARDS), pulmonary hemorrhage, shock and persistent pulmonary hypertension of the newborn (PPHN) occurred much more in the GBS-EOD group than the GBS-LOD group [28.4% (19/67) vs 6.9% (2/29), 13.4% (9/67) vs 0.0% (0/29), 11.9% (8/67) vs 10.3% (3/29), 4.5% (3/67) vs 0.0% (0/29), χ2=13.683, P<0.001]. (3) Among the 96 patients, 23 (24.0%) had meningitis and 73 (76.0%) developed pneumonia and sepsis. Meningitis resulted in a higher fatality rate [17.4% (4/23) vs 4.1% (3/73), χ2=4.564, P=0.035] and longer average hospital stay [(37.2±12.6) vs (14.1±5.3) d, t=7.831, P<0.001] than pneumonia and sepsis. Seven out of the 19 meningitis survivors developed intracranial complications. (4) The overall fatality rate in this study was 7.3% (7/96) and no significant difference was found between GBS-EOD and GBS-LOD group [7.5% (5/67) vs 6.9% (2/29), χ2=0.010, P=0.982]. Among the 67 GBS-EOD infants, 58 (86.6%) occurred within 24 h and five of them died, but no death was reported in the other nine cases occurred after 24 h. (5) Totally 96 strains of GBS were isolated with 100% sensitivity to penicillin, ampicillin, cefazolin and meropenem, and 97% to vancomycin. Around 79.3%-91.0% of GBS isolates were resistant to clindamycin and erythromycin. Conclusions Clinial features vary greatly in GBS-LOD and GBS-EOD cases. Infants with meningitis have poor prognosis. The drug resistance rate of GBS to erythromycin and clindamycin are relatively high.
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Objective To study the effects of cystic fibrosis transmembrane conductance regulator (CFTR) on neonatal rats with bronchopulmonary dysplasia (BPD).Method The hyperoxia (FiO2＞ 90％)-induced neonatal BPD rat models were established and assigned into three groups:the model group,the agonist group and the antagonist group.Room air (FiO2 21％) was inhaled by the rats in the control group.50 μl of phosphate buffered saline (PBS),genistein (50 mg/kg),arachidonic acid (500 mg/kg) and PBS were injected intraperitoneally respectively in the model group,the agonist group,the antagonist group and the control group at 24,48 and 72 h after birth.The survival rates of the neonatal rats were calculated,the survival curves were drawn,the pathological changes of the lung tissues were examined (the control group and the model group:3,14 and 21 d after birth;the agonist group and antagonist group:14 and 21 d after birth),and the expression of CFTR were studied using western blot method.The acute lung injury scores of the model group,the agonist group and the antagonist group were compared and the gray value was analyzed using Graphpad software.Result (1) The survival rates in the control group,the model group,the agonist group and the antagonist group were 96.8％,93.3％,100％ and 34.5％ respectively.The antagonist group had significantly lower survival rate than the other three groups (P＜0.001).(2)The alveoli developed gradually with age in the control group.The pulmonary pathology of the model group showed:alveolar congestion,hemorrhage,infiltration or aggregation of neutrophils in airspace or vessel wall,thickness of alveolar wall,with some enlarged alveolar spaces and reduced alveolar cavities.As the inflammation gradually decreased,some alveolar spaces significantly enlarged and the numbers of alveolar cavities significantly reduced.No significant differences existed of the acute lung injury scores among the agonist group,the antagonist group and the model group at 14 and 21 d after birth (P＞0.05).(3) The expressions of CFTR in the lungs were lower in the model group than the control group 3 d after birth (P＜0.01).No significant differences existed of the CFTR expression between the model group and the control group 14 d after birth(P＞0.05).The CFTR expression was much higher in the agonist group than the model group (P＜0.01) and also higher in the antagonist group than the model group (P＜0.05) 14 d after birth.The CFTR expression was lower in the model group than the control group,and higher in the agonist group than the model group 21 d after birth (P＜ 0.05).No significant differences existed of CFTR expression between the antagonist group and the model group 21 d after birth (P＞0.05).Conclusion CFTR may play a protective role in the pathogenesis of BPD.
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Objective To evaluate the values of amplitude-integrated electroencephalogram(aEEG) on the diagnosis of hypoxic ischemic encephalopathy(HIE),and the changes of aEEG in HIE with hypother-mia treatment.And to assess the therapeutic effect of hypothermia.Methods The changes of aEEG were continuously monitored before and after hypothermia treatment,and the proportions of various waveforms ap-pearing in aEEG were analyzed.Results A total of 90 cases were enrolled in this study,the changes of aEEG were monitored,including aEEG normal in 43 cases,mild abnormalities in 33 cases and severe abnor-malities in 14 cases.aEEG monitoring had a higher consistency with HIE grade and cranial MRI examination (Kappa ﹦0.584,P 〈0.001 ;Kappa ﹦0.590,P 〈0.001 ).The sensitivity,specificity,positive predictive val-ue,and negative predictive values of aEEG were high in predicting the severity of HIE.The index of with mild and severe abnormalities of aEEG was significant difference before and after the treatment of hypother-mia(P 〈0.05).Conclusion aEEG has a better evaluation effect on early diagnosis and severity assessing of HIE.Hypothermia can significantly reduce the proportion of abnormal aEEG after HIE,have a neuroprotective effect on the treatment of mild to moderate HIE.