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ObjectiveTo investigate the regulatory effect and molecular mechanism of berberine （BBR） on lipophagy in the prevention and treatment of atherosclerotic （AS） lesions in mice. MethodFifty apolipoprotein E-knockout （ApoE-/-） mice were randomly divided into an AS model group， an atorvastatin group （5 mg·kg-1）， and low-， medium-， and high-dose BBR groups （2.5， 5， 10 mg·kg-1）. Ten C57BL/6J mice were assigned to the control group. After 12 weeks， hematoxylin-eosin （HE） and oil red O staining were performed to assess the histopathological changes of AS plaques in the aorta. Biochemical analysis was used to measure serum lipid levels， and enzyme-linked immunosorbent assay （ELISA） was employed to measure the levels of inflammatory cytokines interleukin-6 （IL-6） and tumor necrosis factor-α （TNF-α）， oxidative stress marker reactive oxygen species （ROS）， and serum lipophagy marker Beclin1 and microtubule-associated protein 1 light chain 3 Ⅱ （LC3Ⅱ）. The xanthine oxidase method was used to measure serum superoxide dismutase （SOD） activity. Immunohistochemistry （IHC） was used to detect the distribution of wingless-type MMTV integration site family member 5a （Wnt5a） and Nieman Pick type C1 （NPC1） in the aorta， and Western blot was used to determine the protein expression of Wnt5a and NPC1 in the aorta. ResultCompared with the control group， the AS model group showed significant AS plaque formation， significantly elevated levels of serum total cholesterol （TC）， triglycerides （TG）， low-density lipoprotein cholesterol （LDL-C）， IL-6， TNF-α， and ROS， aortic Wnt5a distribution and protein expression （P<0.01）， and significantly reduced levels of serum high-density lipoprotein cholesterol （HDL-C）， SOD， Beclin1， LC3Ⅱ， and aortic NPC1 distribution and protein expression （P<0.01）. Compared with the AS model group， the atorvastatin group， and high- and medium-dose BBR groups showed a significant reduction in AS plaque area （P<0.05， P<0.01）， significantly decreased levels of serum TC， TG， LDL-C， IL-6， TNF-α， ROS， and aortic Wnt5a distribution and protein expression （P<0.05， P<0.01）， and significantly increased levels of serum HDL-C， SOD， Beclin1， LC3Ⅱ， and aortic NPC1 distribution and protein expression （P<0.05， P<0.01）. There was no statistically significant difference in the above indicators between the atorvastatin group and the medium-dose BBR group. ConclusionBBR can competitively bind to Wnt5a to activate NPC1 expression， upregulate lipophagy levels， reduce blood lipids， and inhibit the release of inflammatory mediators and oxidative stress damage， thereby exerting a preventive and therapeutic effect on AS.
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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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Objective To investigate the clinical and genetic characteristics of focal dermal hypoplasia (FDH) in children. Methods Clinical data, relevant examinations, histopathological features and genetic test results of a male newborn with FDH who was admitted to the neonatal ward of Beijing Children's Hospital of Capital Medical University were retrospectively analyzed. Reports of pediatric FDH patients with complete clinical data were retrieved from PubMed, Wanfang database and China National Knowledge Infrastructure from the establishment of these databases to March 2018 and characteristics of FDH was summarized. Results The case we reported here was a male neonate diagnosed with FDH in China, who was born with microcephaly, bilateral auricular cartilage dysplasia, tooth germ dysplasia and bipedal deformity and his skin, bone, gingiva, bilateral iris and pupils were all involved. Histopathological examination of the skin suggested dermal dysplasia. Genetic analysis showed a suspected chimeric nucleotide variation in PORCN gene (c.268 C>T), whereas no abnormalities were found in his parents and sister. A total of 60 cases (including the one we reported) of FDH diagnosed in childhood were reviewed, and 19 of them were confirmed in neonatal period. Fifty-seven of the 60 cases (95.0%) developed typical skin dysplasia and 56 cases (93.3%) with skeletal malformations, while other clinical manifestations vary. Histopathological examination suggested as dermis dysplasia, adipose tissue migration and reduction of appendage and collagen fibers. Among the 60 children, 19 (including four onset at neonatal period) underwent genetic testing and the results indicated PORCN gene mutation. Mutations in the four with neonatal-onset were c.956dupA, c.1061T>C, c.749C>T and c.268C>T. As the reported case was a boy, with only one X chromosome, the PORCN gene mutation could directly affected its function resulting in the abnormal phenotype. It was a de novo mutation as the same mutation was not detected in his parents. Conclusions FDH is a hereditary disease involving multiple systems with various clinical manifestations. Skin histopathological examination and genetic testing should be performed as soon as possible for early diagnosis and intervention. Accurate diagnosis is essential for genetic counseling, reproductive planning, prospective guidance and prognosis.
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Objective To study the application of the array comparative genomic hybridization (Array-CGH) for the detection of chromosomal disorders in newborns.Method The Array-CGH technique was used to analyze the whole genome of the patients who were suspected of chromosomal disease in neonatal ward of our hospital from January to December in 2014,and further verification in genomic unbalanced ectopia was carried out by FISH (fluorescence in situ hybridization,FISH).Result Among 514 patients,104 were found carrying chromosomal abnormalities with a detection rate of 20.2％.The most common chromosomal disease is the Down syndrome syndrome (24 cases),followed by the chubby Willy and Angel syndrome(17 cases),while the Wolf-Hirschhorn syndrome in 5 cases,Williams syndrome in 5 cases and the Criduchat syndrone in 5 cases.The results of FISH were consistent with Array-CGH.Conclusion The technique of Array-CGH can be used to scan the whole genome of children with unknown disease.As a high-throughput and rapid research method,this technique has important clinical significance in the screening of chromosomal diseases.
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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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<p><b>OBJECTIVE</b>To determine the disease-causing mutation in a newborn with hereditary spherocytosis.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Next-generation sequencing was used to analyze the related genes. Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing.</p><p><b>RESULTS</b>An insertional mutation g.834_833insC was identified in the coding region of ankyrin-1 (ANK1) gene, which has caused a frame shift, resulting premature termination of protein translation.</p><p><b>CONCLUSION</b>The hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.</p>
الموضوعات
Female , Humans , Infant, Newborn , Amino Acid Sequence , Ankyrins , Genetics , Base Sequence , Infant, Newborn, Diseases , Diagnosis , Genetics , Molecular Sequence Data , Mutation , Spherocytosis, Hereditary , Diagnosis , Geneticsالملخص
Objective To study the efficacy and complications of reconstruction of failed urethro-plasty for hypospadias with pedicle flap , bladder mucosa , buccal mucosa , and biological patch . Methods 23 patients were enrolled from Jul .2005 to Dec.2011.8 patients, with good local skin condition , were performed with pedicle flap urethroplasty .The other 15 patients, with bad local skin condition or with long segment urethral stricture , were performed with free grafts , including 6 bladder mucosa , 7 buccal muco-sal and 2 biological patch. Results Of the 23 cases, 7 cases were cured by one phase operation .There were 16 (16/25) cases had complications.3 (3/16) cases were failed because of serious infection (2 pedi-cle flap, 1 bladder mucosa ) .The failed cases were implemented with urethroplasty 6 months later by the buccal mucosa installments operation .4 (4/16) cases had solitary urethral fistula (1 pedicle flap, 2 bladder mucosa, and 1 buccal mucosal), who were successfully treated with simple fistula repair 3 to 6 months later. 9 ( 9/16) cases had urethral stricture ( 2 pedicle flap , 3 bladder mucosa , 3 buccal mucosal , and 1 biologi-cal patch graft ) , who were treated with urethral sound and got good result .We had reconstructed the urethra using mucosa graft onlay urethroplasty .All of the 23 patients were followed up with an average of 14.5 ( 6-24) months.23 cases were satisfied with the stretched penis , urination and no need to expand the urethra more than 6 months.3 cases were not satisfied with penile appearance .After communication, these patients did not require a further penis orthopedic surgery . Conclusions Pedicle flap, bladder mucosa , buccal mucosa and biological patch can be used in urethral repair and construction of failed urethroplasty for hypos -padias.Urethral sound dilation plays an important role in hypospadias repair .
الملخص
<p><b>OBJECTIVE</b>To investigate the clinical effect of modified Koyanagi technique with coverage by tunica vaginalis of testis in severe hypospadias.</p><p><b>METHODS</b>49 cases with severe hypospadias treated from Jan. 2009 to Sep. 2011 were retrospectively studied. 25 patients underwent Koyanagi technique with coverage by tunica vaginalis of testis. 24 cases underwent one-stage Duplay + Duckett technique in the same term. The patients were followed up for 7-24 months.</p><p><b>RESULTS</b>Among the 25 children treated with Koyanagi procedure, 20 cases were cured, 5 patients had postoperative complications, including urethral fistula in 3 cases,urethral stenosis in 2 cases. At the same time, in the Duplay + Duckett group, 17 cases were cured, 7 children had postoperative complications, including urethral fistula in 4 cases, and urethral stenosis in 3 cases. All the patients with urethral fistula were repaired successfully 6 months after the first surgery; The urethral stenosis were cured by dilatation within 1 to 3 months. The successful rate in the 2 groups had no significant difference(P >0.05).</p><p><b>CONCLUSIONS</b>Koyanagi technique with coverage by tunica vaginalis of testis is relatively simple with similar effect as Duplay + Duckett technique for severe hypospadias.</p>
الموضوعات
Child , Child, Preschool , Humans , Male , Hypospadias , General Surgery , Postoperative Complications , Therapeutics , Retrospective Studies , Surgical Flaps , Transplantation , Testis , General Surgery , Urethral Diseases , Therapeutics , Urethral Stricture , Therapeutics , Urinary Fistula , General Surgeryالملخص
Objective To observe the therapeutic effects of intravenous immunoglobulin (IVIG) between the higher dose (1 g/kg) and the lower dose (400 mg/(kg?d)1~3 d) for severe ABO hemolytic disease of newborn. Methods 48 term infants with severe hyperbilirubinemia receiving IVIG were divided into 2 groups. 24 cases in group A with higher dose, while 24 cases in group B with lower dose, another 20 cases without IVIG in the control group C. Phototherapy were used concomitantly for all infants in these 3 groups. The days of life on admission, the days of jaundice appearance, and the peak of serum bilirubin concentration (TB) in each group were macthed. The theraputic effects in TB reduced between each group were compared. Results The infants admitted on the 1st day of life in group A,B,and C were 11, 11, and 8 cases respectively, the range of TB(MTB) in the 3 groups were 230~237?mol/L (13.5~13.9 mg/dl). After treatment, the MTB declined to 203?mol/L (12 mg/dl) in group A within 24hrs, vs 285~316 ?mol/L (17~18 mg/dl) in group B and C,P
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Objective To observe the effect of intravenous immune globulin (IVIG) therapy on newborn infants of Rh hemolytic disease. Methods IVIG group (n=14) received conventional treatments including albumin administration and phototherapy with additional IVIG therapy at a daily dose of 400 mg/kg given for 1～5 consecutive days,and control group (n=16) only received conventional treatments. Effects were compared between the two groups. Result There were 25 patients with hyperbilirubinemia caused by Rh hemolytic disease received exchange transfusions. IVIG was infused in 12 cases,100% of them had the total serum bilirubin level dropped down during the treatment before the exchange transfusions, vs 5 (38%) of 13 cases in control group (P