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Objective:To study the clinical and genetic features of neonatal Schaaf-Yang Syndrome (SYS).Methods:The clinical data of a newborn with SYS admitted to our hospital in October 2022 were retrospectively analyzed. Using "Schaaf-Yang syndrome", "newborn", "preterm", "neonate" as keywords, we searched the CNKI, Wanfang Database, VIP database, Chinese Medical Journal Full Text Database, PubMed, Embase, Web of Science and the Cochrane Library for literature published during the date of establishment to March 24th, 2023. The clinical and genetic features of neonatal SYS from published literature were summarized.Results:The patient in this case was a female preterm infant with a gestational age of 33 +3 weeks, characterized by epiglottic collapse, hypotonia, poor response, weak sucking and swallowing, respiratory failure, and abnormalities such as bilateral low ear position and short limbs. The patient received symptomatic treatment, often failed to withdraw the ventilator, and had difficulty intubating. Meanwhile, whole exome sequencing identified a de novo truncated variant c.2892del (p.Trp965Glyfs*3) in the MAGEL2 gene of the patient. At 30 d after birth, the patient died after giving up treatment by her family. A total of 11 retrieved literatures had neonatal records, including 17 cases. The clinical features involved joint contracture (15/17), hypotonia (14/17), respiratory failure (12/17), and feeding difficulties (12/17). Most of the gene variation was truncated mutation, and only 1 heterozygote deletion mutation was found. These gene variation included c.1996dupC(p.Gln-666Profs*47) variation in 7 cases, c.1912C>T(p.Q638X) variation in 3 cases, c.1996C>T(p.Q666*) in 1 case, c.2847-2883del37 in 1 case, c.2118delT(p.Leu708Trpfs*7) in 1 case, c.1850G>A(p.RP617*) in 1 case, c.2167delG (p.Ala723Profs*4) in 1 case, c.2005C>T(p.Gln669) in 1 case, c.2892del(p.Trp965Glyfs*3) in 1 case, respectively. Conclusions:The main manifestations of neonatal SYS included hypotonia, feeding difficulties, respiratory failure and joint contracture. Most of the mutations were truncated mutations of c.1996dupC (p.Gln-666Profs*47).
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Objective To study the value of new 16S rRNA gene chip in pathogen detection of neonatal sepsis.Method Newborns with suspected sepsis hospitalized in Peking University Shenzhen Hospital from January 2015 to December 2017 were chosen as the subjects.Blood culture and gene chip were both used to detect the pathogens of these infants.The positive rate,the detection time,and the blood volume needed for detection were compared between the two methods.Result A total of 306 cases of suspected neonatal sepsis were included in the study.Among them,34 (11.1％) were positive for blood culture and 54 (17.6％) were positive for gene chip.98 cases were diagnosed as neonatal sepsis,34 (34.7％) were positive for blood culture,and 52 (53.1％) were positive for gene chip.The positive rate of gene chip was higher than that of blood culture (P ＜ 0.05).For the 5 common pathogens of neonatal sepsis,the positive rate of gene chip was higher than that of blood culture.Time to positivity (TTP) and pathogen identification time of blood culture were (14.6 ± 5.5) h and (72.9 ± 19.0) h,respectively.TTP and pathogen identification time of gene chip were both 3 h.The detection time of gene chip was significantly less than that of blood culture (P ＜ 0.001).The blood volume needed for detection of blood culture and gene chip was 1 ～ 2 ml and 0.5 ml.Gene chip needs less blood volume than blood culture.Conclusion Compared with the traditional blood culture,gene chip can quickly detect the pathogens in the blood with higher positive rate and less blood volume.Gene chip is of great value in the diagnosis of neonatal sepsis.
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Objective To investigate the clinical value of of procalcitonin detection in neonatal necrotizing enterocolitis (NEC).Methods Sixty cases eligible NEC infants were randomly divided into observation group and control group(n=30 each group).All the infants were divided into Ⅰ grade group(19cases),Ⅱ-Ⅲ grade group(41 cases) according to NEC classification.All infants received PCT detection after NEC diagnosis.The observation group received antibiotic treatment base on the serum PCT levels.The control group received antibiotic treatment according to treatment routine and physician's clinical experience.Results PCT increased in 28 (46.7％) of the 60 NEC infants.In the Ⅰ grade group and Ⅱ-m grade group,the proportion of PCT increased cases were 26.3％,61.3％ respectively,and the PCTmax in PCT positive cases were (0.81±0.25) μg/L,(1.76±0.89) μg/L respectively,the differences were signifiacnt(x2 =4.627,t=-2.608,P＜0.05).The time of antibiotic usage in observation group was significantly less than that in control group ((4.9±3.0) d vs.(8.6±2.5) d,t=-3.645,P＜0.01).The fasting time and the cure time of the two groups had no significant difference (P＞ 0.05).Conclusion PCT detection can help to understand the cause and severity of NEC.Using antibiotics according to PCT levels can reduce the time of antibiotic usage without affecting the effect of the NEC treatment.
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Objective To observe the effect of salmeterol/flutieasone propionate on children with asthma. Methods Salmeterol/flutieasone propionate inhalation of different dosages were given according to different illness condition of asthma. Investigate the effects of 180 days inhalation of SM/FP among children. Results After 180 days' treatment, the PEFam and PEFpm of those children of asthma were significantly increased. The lung function has a perceptible improvement. In addition, the daytime and noctural symptom scores and asthma symptom were improved. Moreover, the shore-acting β2 agonist was used with decreasing frequency. The effects of SM/FP inhalation were marvelous after 1 week of treatment and should make a long persisting time alter six months of treatment. Conclusion SM/FP is an effective medicine for children with asthma and should be make more widespread.