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Objective:To study the clinical and genetic features of neonatal Smith-Kingsmore syndrome (SKS).Methods:The clinical data of a newborn with SKS admitted to our hospital in November 2021 were reviewed. Using "Smith-Kingsmore", "rapamycin gene", "newborn", "premature infant", "the mammalian target of rapamycin", "MTOR", "mTOR", "Smith-Kingsmore syndrome", "megalencephaly", "macrocephaly" and "hemimegalencephaly" as keywords, databases including CNKI, Wanfang Database, VIP database, PubMed, Embase, Web of Science and the Cochrane Library were searched from the date of establishment to January 1, 2022. The clinical and genetic features of neonatal SKS from published literature were summarized.Results:The case admitted to our hospital was a male preterm infant. The presenting symptoms were groan and hypotonia. The facial abnormalities included macrocrania, ocular hypertelorism, depressed nasal bridge and low-set ears. Brain MRI showed lateral ventricle enlargement. Whole-genome sequencing (WGS) showed mTOR gene nonsense heterozygous mutation (NM_004958.4:c.7255G>A:p.Glu2419Lys). Neither father nor mother had any pathogenic gene mutations. The infant had seizure at 2-month and phenobarbital was effective reducing seizure. Gross motor delay was present at 3-month. Sixteen related articles were retrieved, including eight articles with 10 neonatal cases. Among them, 6 cases were male. The main clinical features were megalencephaly or hemimegalencephaly (9/10), facial developmental malformation (8/10), hypotonia (6/10), large-for-gestational age (LGA) infants (5/10), cerebral ventricle dilation (4/10) and abnormal corpus callosum (4/10). All the gene mutations were missense mutations, including c.5395G>A(p.Glu1799Lys) mutation in 5 cases, c.4448G>T(p.Cys1483Phe) mutation in 1 case, c.4448G>T(p.Cys1483Tyr) mutation in 1 case, c.7235A>T(p.Asp2412Val) mutation in 1 case, c.5663T>G(p.Phe1888Cys) mutation in 1 case, c.5390C>T(p.Thr1799IIe) mutation in 1 case.Conclusions:The clinical phenotypes of neonatal SKS are diverse, including megalencephaly, facial malformation, LGA and hypotonia. The brain MR findings included (hemi) megalencephaly, cerebral ventricle dilation and corpus callosum hypoplasia. Most of the gene mutations are missense mutations and c.5395G>A(p.Glu1799Lys) is the hotspot.
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Objective@#To establish a rat model of preeclampsia (PE) in early pregnancy and to observe the changes in phenotype，pregnancy outcome and cognitive ability of offspring．@*Methods @#The pregnant rats were randomly divided into model group and control group．Ultra-low dose lipopolysaccharide (LPS) (0. 5 μg / kg) and an equal volume of normal saline were injected into the tail vein of pregnant rats on the fifth day of pregnancy．The levels of blood pressure ，12-hour urinary protein ，peripheral blood coagulation factors and placental cytokines in the two groups were measured．Furthermore，placental pathology，pregnancy outcomes，and cognitive abilities of offspring were observed. @*Results@#Blood pressure and urinary protein levels of model group were significantly higher than those of control group levels．Compared with the control group，the levels of platelet and antithrombin Ⅲ (AT Ⅲ) in the peripheral blood of pregnant rats in the model group were lower than those in the control group，while D-dimer was higher than that in the control group，the weight of the fetus and placenta in the model group decreased (P ＜0. 001) ，the expression levels of interleukin ( IL) -6，tumor necrosis factor α ( TNF-α) and interferon gamma (INF-γ) in peripheral blood increased，while the expression level of transforming growth factor β1 (TGF-β1) decreased(P＜0. 001) ．The water maze test showed that the latency of the offspring of the model group to the plat- form was longer than that of the control group (P＜0. 05) ，while the frequency of crossing the platform quadrant and the time of staying in the platform quadrant of the model group were lower than those of the control group (P < 0. 05 ) ．HE and PAS staining showed that there were infiltration of inflammatory cells in the basal layer of placenta， obvious decrease of blood vessels in labyrinthine area，slight edema of renal interstitium and degeneration of local renal tubular epithelial cells in the model group，while there were no above pathological changes in placenta and kidney in the control group．@*Conclusion@#A single injection of LPS in early pregnancy can successfully induce PE- related symptoms and adverse pregnancy outcomes such as fetal growth restriction and lead to the decline of cogni- tive ability of offspring.
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Objective:To study the early risk factors for the failure of INtubation-SURfactant-Extubation (INSURE) strategy in preterm infants with respiratory distress syndrome (RDS).Methods:From November 2016 to October 2020, preterm infants with gestational age (GA) <34 weeks admitted to our hospital were enrolled in this study. Infants required invasive ventilation within 72 hours after extubation were assigned into INSURE failure group and other infants INSURE success group. SPSS 25.0 was used to compare the clinical data of the two groups and Logistic regression analysis was used to analyze the independent risk factors of INSURE failure.Results:The incidence of INSURE strategy failure was 25.0% (34/136). The antenatal dexamethasone use, GA, birth weight, 1 min Apgar score, 5 min Apgar score, respiratory index (PaO 2/FiO 2) and mean hemoglobin (Hb) in INSURE failure group were significantly lower than INSURE success group ( P<0.05). INSURE failure group had significantly delayed use of first-time pulmonary surfactant (PS), longer duration of positive pressure ventilation resuscitation, higher respiratory score in Apgar, higher procalcitonin (PCT) level, more placental chorioamnionitis and more RDS radiological grade ≥3 cases than INSURE success group ( P<0.05). Logistic regression analysis showed that respiratory score ≥8 ( OR=10.609, 95% CI 2.630~42.797, P=0.001), RDS radiological grade ≥ 3 ( OR=8.813, 95% CI 2.022~38.423, P=0.004) and Hb<145 g/L ( OR=9.074, 95% CI 1.771~46.147, P=0.008) were independent risk factors for INSURE failure. And antenatal dexamethasone use ( OR=0.270, 95% CI 0.075~0.978, P=0.046) was a protective factor for INSURE failure. Conclusions:Respiratory score ≥8 in Apgar, RDS radiological grade ≥3, Hb<145 g/L and the insufficient use of antenatal dexamethasone are independent risk factors for INSURE failure.
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OBJECTIVE@#To investigate the effects of ALKBH5 on migration, invasion and epithelial-mesenchymal transition (EMT) of human trophoblast cells.@*METHODS@#The expression plasmid of ALKBH5 or a negative control plasmid (ALKBH5-NC) was transfected in human trophoblast HTR-8 /SVneo cells, and the expressions of ALKBH5 mRNA and protein were detected by qRT-PCR and Western blotting. Transwell assay was used to assess the changes in migration and invasion abilities of the trophoblast cells after the transfection. Western blotting was performed to detect the expressions of EMT-related proteins in the cells including vimentin, fibronectin, E-cadherin, N-cadherin, MMP9 and MMP2.@*RESULTS@#ALKBH5 mRNA and protein expressions were significantly higher in ALKBH5 group than in the control group (@*CONCLUSIONS@#ALKBH5 is involved in the pathogenesis of preeclampsia by inhibiting EMT of trophoblast cells and hence reducing their migration and invasion abilities.
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Female , Humans , Pregnancy , AlkB Homolog 5, RNA Demethylase , Cell Line, Tumor , Cell Movement , Epithelial-Mesenchymal Transition , Pre-Eclampsia , Trophoblasts , Vimentin/geneticsABSTRACT
Objective@#To summarize the clinical features of 7 rare cases of hemolytic disease of newborn (HDN), and to improve the understanding of rare HDN.@*Methods@#Data of clinical information, laboratory findings, treatments and outcomes were collected and analyzed for four cases with HDN due to anti-M, two cases due to anti-Kidd, and one case due to anti-Duffy. All of them were admitted to the Department of Neonatology, Beijing Children's Hospital Affiliated to Capital Medial University from July 2007 to June 2017.@*Results@#Among the four MN hemolytic babies, two were males and two were females. Jaundice was found in three cases. Two cases had hyperbilirubinemia, one of them had severe hyperbilirubinemia. All the four cases developed anemia, including severe anemia in three cases. Two cases of Kidd hemolytic disease and 1 case of Duffy hemolytic disease had jaundice and anemia, but did not reach the level of severe hyperbilirubinemia and severe anemia. MN hemolytic disease babies got negative results in direct antiglobulin test, whereas the Kidd and Duffy hemolytic disease babies had positive findings in direct antiglobulin test. None of the babies had blood transfusion, and they were discharged from the hospital.@*Conclusions@#Without maternal and fetal blood group incompatibility (ABO or Rh blood-group system), for early onset of jaundice, severe jaundice or anemia, antiglobulin test to mother and child earlier should be administered, and MN, Kidd, Duffy and other rare hemolytic disease of the newborn should be pay attention to.
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ObjectiveTo analyze the clinical manifestation of hemolytic disease of the newborn (HDN) due to anti-M and Rhesus system.MethodsClinical information was collected and analyzed for three cases with HDN due to anti-M and 64 with Rhesus hemolytic disease, who were admitted to Department of Neonatology, Beijing Children's Hospital Affiliated to Capital Medical University from February 2011 to January 2015, as well as another 28 cases of HDN due to anti-M with complete information retrieved from literature in Wanfang and China National Knowledge lnfrastructure (CNKI) Database from 1992 to 2014.Chi-square test was performed for statistical analysis.ResultsTwo out of the 64 Rh hemolytic babies gave up therapy due to kernicterus and another two out of the 31 MN hemolytic babies, obtained from literature, died 24 h after birth because of anemia or edema, while the rest survived. Although more babies were the first child of the family in HDN due to anti-M than those of Rh hemolytic disease [26%(8/31) vs 9%(6/64),χ2=4.487, P=0.034], but lower incidence of jaundice [81%(25/31) vs 98%(63/64),χ2=9.686,P=0.002], less proportion of presentation of jaundice within 24 h after birth [29% (9/31) vs 64%(41/64),χ2=10.279,P=0.001] and lower positive rate of direct antiglobulin test [39%(12/31) vs 100%(64/64), Fisher exact test,P=0.000] were shown in HDN due to anti-M. No significant difference was found in the incidences of hyperbilirubinemia [58%(18/31) vs 66%(42/64),χ2=0.513], severe hyperbilirubinemia [23%(7/31) vs 36%(23/64),χ2=1.724], anemia [81%(25/31) vs 89%(57/64),χ2=1.253] and severe anemia [29%(9/31) vs 34%(22/64),χ2=0.271] between HDN due to anti-M and Rh hemolytic babies (allP>0.05).ConclusionsHDN due to anti-M and Rhesus hemolytic disease can cause severe pathological jaundice and/or anemia in newborns. Indirect antiglobulin test should be offered when direct antiglobulin test is negative which is helpful in the diagnosis of HDN due to anti-M.
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Objective To investigate the feasibility, safety and efficiency of endovascular treatment for patients with aorto-bilateral-iliac artery total occlusive disease.Methods A total of 35 patients with aorto-bi-iliac artery total occlusive disease treated with endovascular therapy in Peking Union Medical College Hospital and the First Hospital of Shijiazhuang between Jan 2012 and Dec 2013 were retrospectively analyzed.Results There were 33 males and 2 females, mean age (67 ± 6) years treated during the study period.Technical success rate was 100％.129 bare stents and 4 covered stents were implanted.There were no peri-operative death.Postoperative leg ankle brachial index (ABI) improved significantly (0.86 vs.0.28, P ＜ 0.28).Postoperative complications occurred in 2 patients (5.7％), including brachial artery thrombosis and rupture of external iliac artery post-dilation.The mean follow-up period was 16.5 months (2-28 months).Two patients (5.7％) were lost to follow up.Re-intervention was performed in 3 patients (8.6％) due to reocclusion of the stents.Primary patency was 91％ (30/33) Conclusions Endovascular treatment is effective for aorto-bi-iliac artery total occlusive disease with low complications and acceptable mid-term patent rate.
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Objective To compare the efficacies between nasal packing and no nasal packing after endoscopic sinus surgery for chronic sinusitis,and explore the feasibility of no nasal packing after endoscopic sinus surgery.Methods Eighty-two type 1 or type 2 chronic sinusitis patients who received endoscopic sinus surgery under general anesthesia were divided into no nasal packing group (44 cases,75 sides) and nasal packing group (38 cases,65 sides) by random digits table method.The patients in 2 groups were taken preoperative anti-inflammatory and regulation blood pressure treatment.The volume of bleeding,postoperative pain (visual analogue score,VAS),degree of mucosal edema,efficacy and postoperative complications between 2 groups were compared.Results There were no statistical difference in volume of bleeding and efficacy between 2 groups (P ＞ 0.05).The postoperative VAS in no nasal packing group was significantly lower than that in nasal packing group [(2.46 ± 0.54) scores vs.(5.49 ± 1.26) scores],there was statistical difference (P＜ 0.01).There was no statistical difference in mucosal edema score postoperative 1 week and 6 months between 2 groups (P ＞ 0.05),but the mucosal edema score postoperative 1 month in no nasal packing group was significantly lower than that in nasal packing group [(1.32 ±0.63) scores vs.(3.52 ±0.72) scores],there was statistical difference (P ＜ 0.01).Postoperative comphcations in nasal packing group were significantly more than those in no packing group.Conclusion No nasal packing can be performed for type 1 or type 2 chronic sinusitis patients who has no significant bleeding after endoscopic sinus surgery under general anesthesia,it is actually beneficial of relieving distress of the patient and reducing postoperative complications.
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Objective To investigate the changes of uvulopalatopharyngoplasty on the auditory function in adult patients with severe obstructive sleep apnea-hypopnea syndrome (OSAHS).The possible mechanism of hypoxemia was analyzed,and hypercapnia might affect auditory function and the effect of operation to hearing was improved.Methods A total of 82 adult patients who were made a diagnosis by polysomnography (PSG) with severe OSAHS had been diagnosed by pure tone audiometry,tympa-nometry,auditory brainstem responses (ABR),and otoacoustic emissions (OAE) before and 6 months after surgical treatments.The control group included 43 non-snoring healthy people through the same line of the above test.Results (1)Among 82 patients who underwent uvulopalatopharyngoplasty,symptoms were resolved in 51 patients,significantly improved in 24 patients,and somewhat improved in7 patients at 6 months followed-up,yielding a total effective rate of 100％.(2)There were no significant differences in hearing threshold across 250 to 4 000 Hz on pure tone audiometry between OSAHS and control groups (P ＞ 0.05),although hearing thresholds at high frequencies showed significant differences (P ＜ 0.05).(3)The latencies of ABR waves Ⅰ and Ⅴ in the OSAHS group were significantly longer than control group (P ＜ 0.05).The interpeak lantency intervals of wave Ⅲ ～ Ⅴ in patients with OSAHS were longer than that in the control group (P ＜ 0.05).No significant difference was showed before and after surgery (P ＞ 0.05).(4)Distortion product otoacoustic emission (DPOAE) detection rate and amplitudes at all frequencies were poorer in OSAHS group before surgery compared with the control group (P ＜ 0.05),and significant changes were found after surgical treatments (P ＜ 0.05).Conclusions OSAHS can impair auditory function,probably from chronic hypoxia,which can be improved by surgical treatment in adult patients with severe OSAHS.
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BACKGROUND:The cryopreservation of single tissue has achieved great advancement and is gradual y applied in clinics. However, the cryopreservation of complex tissue is rarely reported. OBJECTIVE:To investigate the morphological change in rabbit limb tissue after replantation through different rewarming methods, find the best rewarming methods of compound textured blood vessels, and provide theoretical basis for the feasibility of limb replantation after long-term cryopreservation. METHODS:Thirty New Zealand white rabbits were randomly divided into control group, slow freezing-slow thawing group, and slow freezing-rapid thawing group. The right posterior limbs of al the rabbits were cut off 1 cm above the knee joint. Except control group, the latter two groups were given limb replantation after thawing, and then the right posterior limb was again cut off after the replanted limbs were survived for 6 hours. For al groups, the histological changes and gross observation in aorta tissue were observed by light microscopy and transmission electron microscope, and the results were analyzed with statistical methods. RESULTS AND CONCLUSION:In the slow freezing-slow thawing, slow freezing-rapid thawing groups, the pathological changes (gross specimen, light microscope, electron microscope) of rabbit limbs 6 hours after replantation were worse than those in control group. Compared with slow freezing-rapid thawing group, better integrity of endothelial cells and less damage of the organel es were found in slow freezing-slow thawing group. Through deep cryogenic freezing-thawing process, rabbit limb blood vessels can maintain the structural integrity after replantation and survived at 6 hours. Slow freezing-slow thawing is better than slow freezing-rapid thawing for the preservation of severed limbs, providing evidences for the long-term survival fol owing a deep cry ogenic treatment after the severed limb replantation.