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Objective@#To investigate the clinical and molecular genetic features of neonatal congenital lipoid adrenal hyperplasia (CLAH) caused by mutations in steroidogenic acute regulatory protein (StAR) encoding gene.@*Methods@#This study retrospectively analyzed the clinical data of a CLAH neonate admitted to Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University in April 2017. StAR gene was analyzed using high-throughput sequencing and Sanger sequencing. Relevant literature retrieved from databases including China National Knowledge Infrastructure (CNKI), Wanfang and PubMed were reviewed, and the reported cases with relatively complete clinical data and results of serum hormone test and StAR gene mutation analysis were collected.@*Results@#The index patient presented with hyperpigmentation and growth retardation soon after birth. Laboratory tests revealed hyponatremia, hyperkalemia, increased serum adrenocorticotrophic hormone (263.4 pmol/L) and decreased 17-hydroxyprogesterone (0.16 ng/ml), dehydroepiandrosterone (<0.95 μmol/L), androstenedione (<1.0 nmol/L), testosterone (<0.025 ng/ml), progesterone (0.02 ng/ml) and cortisol (1.6 μg/ml). High-throughput sequencing showed that the patient carried a compound heterozygous mutation of p.Thr240fs in exon 6 and p.Gln258X in exon 7, inherited from the father and mother, respectively. Sanger sequencing confirmed the diagnosis of CLAH caused by StAR gene mutation. After steroid replacement therapy, the patient's symptoms resolved and the concentrations of electrolytes returned to normal. The neonate was followed up to two years of age and no abnormality was found in physical or neurological development. Two Chinese and 11 English publications were retrieved and altogether 96 cases of neonatal CLAH, including the index one, were reviewed and 42 of them had detailed clinical data. The most common clinical manifestations were skin pigmentation (85.7%, 36/42). Other manifestations included vomiting (35.7%, 15/42) and growth retardation (14.3%, 6/42). All patients with physical examination records had female external genitalia (100.0%, 35/35). The common laboratory abnormalities included hyponatremia (95.2%, 40/42), hyperkalemia (88.1%, 37/42), elevated serum adrenocorticotrophic hormone (100.0%, 37/37) and decreased 17-hydroxyprogesterone (90.5%, 19/21), cortisol (86.2%, 25/29), testosterone (9/10) and dehydroepiandrosterone (14/14). p.Gln258X was the most common StAR gene mutation in neonates in Eastern Asia, including China. Most cases had a good prognosis after appropriate steroid replacement.@*Conclusions@#CLAH should be considered for neonates with adrenocortical hypofunction, especially with female phenotypes and low 17-hydroxyprogesterone. Karyotyping and StAR gene analysis may be helpful in diagnosis. Timely and appropriate treatment could improve the prognosis.
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Objective:To investigate the clinical characteristics, pathogen distribution and risk factors of late-onset sepsis (LOS) in very low birth weight infants (VLBWI).Methods:In this retrospective case-control study, 107 VLBWIs diagnosed with LOS and hospitalized in Fujian Provincial Maternity and Children's Hospital from January 1, 2010 to December 31, 2015 were enrolled as LOS group. Another 107 VLBWIs without infection were assigned as control group with an allocation ratio of 1 to 1. The clinical data between groups were compared using two-independent sample t-test, Chi-square test, sum-rank test and univariate analysis of variance, and multivariate logistic regression was used to analyze the risk factors of LOS. Results:The incidence of LOS in VLBWI was 8.6% (107/1 239). Among the 107 cases with LOS, 87 recovered with a cure rate of 81.3%. Various clinical presentations were observed, and the most common included lethargy (83/107, 77.6%), abdominal distention (77/107, 72.0%) and dyspnea (76/107, 71.0%). Increased C-reactive protein (CRP) level was the most common laboratory markers (82/107, 76.6%). The blood cultures were positive in 45 (42.1%) cases and the dominant pathogen was Gram-negative bacteria (32/45, 71.1%), especially Klebsiella. The logistic regression analysis showed that mechanical ventilation ( OR=21.181, 95% CI: 1.542-290.948, P=0.022), feeding intolerance ( OR=12.480, 95% CI: 2.602-59.856, P=0.002), combined application of antibiotics before LOS occurs ( OR=22.457, 95% CI: 3.933-128.237, P<0.001), duration of antibiotic treatment before LOS occurs ( OR=1.388, 95% CI: 1.158-1.663, P<0.001) were the independent risk factors of LOS for VLBWI. Conclusions:The clinical presentation of LOS in VLBWI are diverse and non-specific. Increased CRP level is a sensitive laboratory marker. The main pathogen is Gram-negative bacteria. LOS are more prone to occur in VLBWI with mechanical ventilation, feeding intolerance, combined application of antibiotics or long duration of antibiotic treatment.
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Objective To investigate the clinical and molecular genetic features of neonatal congenital lipoid adrenal hyperplasia (CLAH) caused by mutations in steroidogenic acute regulatory protein (StAR) encoding gene.Methods This study retrospectively analyzed the clinical data of a CLAH neonate admitted to Fujian Provincial Matemity and Children's Hospital,Affiliated Hospital of Fujian Medical University in April 2017.StAR gene was analyzed using high-throughput sequencing and Sanger sequencing.Relevant literature retrieved from databases including China National Knowledge Infrastructure (CNKI),Wanfang and PubMed were reviewed,and the reported cases with relatively complete clinical data and results of serum hormone test and StAR gene mutation analysis were collected.Results The index patient presented with hyperpigrnentation and growth retardation soon after birth.Laboratory tests revealed hyponatremia,hyperkalemia,increased serum adrenocorticotrophic hormone (263.4 pmol/L) and decreased 17-hydroxyprogesterone (0.16 ng/ml),dehydroepiandrosterone (＜0.95 μmol/L),androstenedione (＜1.0 nmol/L),testosterone (＜0.025 ng/ml),progesterone (0.02 ng/ml) and cortisol (1.6 μ g/ml).High-throughput sequencing showed that the patient carried a compound heterozygous mutation of p.Thr240fs in exon 6 and p.Gln258X in exon 7,inherited from the father and mother,respectively.Sanger sequencing confirmed the diagnosis of CLAH caused by StAR gene mutation.After steroid replacement therapy,the patient's symptoms resolved and the concentrations of electrolytes returned to normal.The neonate was followed up to two years of age and no abnormality was found in physical or neurological development.Two Chinese and 11 English publications were retrieved and altogether 96 cases of neonatal CLAH,including the index one,were reviewed and 42 of them had detailed clinical data.The most common clinical manifestations were skin pigmentation (85.7％,36/42).Other manifestations included vomiting (35.7％,15/42) and growth retardation (14.3％,6/42).All patients with physical examination records had female external genitalia (100.0％,35/35).The common laboratory abnormalities included hyponatremia (95.2％,40/42),hyperkalemia (88.1％,37/42),elevated serum adrenocorticotrophic hormone (100.0％,37/37) and decreased 17-hydroxyprogesterone (90.5％,19/21),cortisol (86.2％,25/29),testosterone (9/10) and dehydroepiandrosterone (14/14).p.Gln258X was the most common StAR gene mutation in neonates in Eastern Asia,including China.Most cases had a good prognosis after appropriate steroid replacement.Conclusions CLAH should be considered for neonates with adrenocortical hypofunction,especially with female phenotypes and low 17-hydroxyprogesterone.Karyotyping and StAR gene analysis may be helpful in diagnosis.Timely and appropriate treatment could improve the prognosis.
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Objective To summarize the clinical features of neonatal lupus erythematosus (NLE) and to have a better clinical understanding. Methods We retrospectively analyzed the clinical data of 13 patients with NLE who were hospitalized in Fujian Provincial Maternity and Children's Hospital from September 2010 to September 2017. The pathogenesis, clinical manifestations, laboratory examinition, management and long term outcomes of these babies were summarized, and the relevant literatures were also reviewed. Descriptive statistical analysis was performed. ResuLts The 13 NLE cases included eight boys and five girls. Among them, skin lesions, cardiac impairment, hematological problems, hepatobiliary system damage, central nervous system involvement and renal function damage occurred in eight, seven (six cases were atrioventricular block), seven, three, one and one case, respectively. Antinuclear antibodies and anti-Sjogren's syndrome antigen A antibodies were positive in all neonates, anti-Sjogren's syndrome antigen B antibodies were positive in 11, and anti-double-stranded DNA antibodies were positive in two cases. Among the 13 mothers, three were diagnosed with Sjogren's syndrome and two had systemic lupus erythematosus(SLE) before pregnancy, two were diagnosed with Sjogren's syndrome and one developed SLE during pregnancy. Eight babies with skin lesions were asked to avoid light and the skin rash all gradually receded within 1-6 months after birth. Five cases with thrombocytopenia were treated with intravenous immunoglobulin and one anemic baby received erythrocyte transfusion. Within 2 to 3 months, the impaired blood system in these babies were back to normal. For the three babies with abnormal liver functions, hepatic protectants and jaundice relieving agents were given, and 2 to 6 months later they recovered. The 13 patients were followed up for five months to seven years, among which, seven improved with normal growth and development; five still had grade Ⅲ atrioventricular block; one installed an atrial pacemaker at 11 months. Three mothers who were asymptomatic during pregnancy were found to have autoimmune diseases after their babies were diagnosed with NLE, including one case of Sjogren's syndrome and two of SLE. ConcLusions NLE is mainly characterized by skin lesions and congenital heart block, while liver, blood system, central nervous system and other organs may also be involved. For high-risk mothers and babies, timely autoantibody screening and relevant examinations are suggested for early diagnosis and interventions. In addition, long term follow-up is required for affected cases.
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Objective To evaluate the effects of the quality-improving program on reducing the bloodstream infection of preterm infants in NICU.The program included emphasizing hand hygiene,strictly controlling the use of antibiotics and following the extubation indications of peripherally inserted central catheter (PICC).Method From October 2016 to March 2017,preterm infants admitted to NICU after the implementation of quality improvement program were assigned into the intervention group,and the infants admitted from April 2016 to September 2016 without the program were in the control group.The x2 test and t test were used to analyse the effects of the program,the rate of bloodstream infection and related complications.Result A total of 432 cases were enrolled in this study.Among them,221 cases were in the intervention group and 211 cases the control group.The rate of hand hygiene in the intervention group was significantly higher and the duration of antibiotic use per 1 000 hospitalization days and the average days of retaining the PICC were significantly shorter than the control group (P ＜ 0.001).The incidence of bloodstream infection in the intervention group was lower than the control group (5.9％ vs.11.4％,P =0.047),and the duration of non-invasive ventilation,parenteral nutrition,average hospitalization days,and the incidence of stage 11 and above necrotizing enterocolitis were lower than the control group (P ＜ 0.05).Conclusion The evidence-based quality improvement program has positive effects on reducing the bloodstream infections and related complications of preterm infants in NICU.
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Objective To identify the risk factors for nosocomial sepsis in preterm infants.Methods A case-control study (1 ∶ 2) was conducted in 81 preterm infants with nosocomial sepsis and 162 preterm infants without nosocomial sepsis as age-matched controls (admission time was the most closely) hospitalized in Fujian Maternity and Children Hospital from January 1,2007 to December 31,2011.Data of preterm infants including maternal,delivery and neonatal records were collected.Risk factors for nosocomial sepsis were analyzed using t test,x2 test and multivariate Logistic regression.Results Nosocomial sepsis occurred in 81 preterm infants with an incidence rate of 1.50％ (81/5 392).Univariate analysis showed that the gestational age [(31.8 ±2.4)vs(33.8 ± 1.8)weeks,t=-7.260,P＜0.01] and birth weight [(1 545± 349) vs (2 174±465) g,t=-10.750,P＜0.01] of neonates with nosocomial sepsis were lower than those in the controls.Compared with the controls,the neonates with nosocomial sepsis had higher incidence of small for gestational age [27.2％ (22/81) vs 11.7％ (19/162)],multiple birth [35.8％ (29/81) vs 21.6％ (35/162)],neonatal asphyxia [19.8％(16/81)vs 8.6％(14/162)],admission to neonatal intensive care unit [81.5％(66/81) vs 49.4％ (80/162)],incubator usage [87.7％ (71/81) vs 29.0％ (47/162)],intracranial hemorrhage [27.2％ (22/81)vs 14.2％ (23/162)],noninvasive ventilation [35.8％ (29/81)vs 14.8％ (24/162)],feeding intolerance [64.2％ (52/81) vs 17.9％ (29/162)],using probiotics [65.4％ (53/81) vs 37.0％ (60/162)],duration of parenteral nutrition ＞7 days [77.8％ (63/81) vs 16.0％ (26/162)],combined administration of antibiotics [61.7％(50/81) vs 43.8％(71/162)],duration of antibiotics administration ＞7 days [65.4％(53/81) vs 9.3％ (15/162)],intravenous immunoglobulin [76.5％ (62/81) vs 46.9％ (76/162)] and central vena catheterization [16.0％ (13/81) vs 1.2％ (2/162)] (all P＜0.05).The Logistic regression analysis showed that low birth weight (OR=2.087,95％CI:1.074 4.057),duration of parenteral nutrition ＞7 days (OR=3.075,95％CI:1.158 8.164),feeding intolerance (OR-4.328,95％CI:1.776-10.544) and duration of antibiotic administration ＞7 days (OR=18.443,95％CI:5.084-66.913) were independent risk factors for nosocomial sepsis in preterm infants (all P＜0.05).Conclusions Preterm infants with low birth weight,long duration of parenteral nutrition,long-term antibiotic treatment and feeding intolerance have high risk for nosocomial sepsis.