1.Clinical analysis of nephrotic syndrome combined with H1N1 influenza in 15 children
Tingyan HE ; Weiguo YANG ; Yanxia HE ; Yijiao MA ; Jun YANG
Journal of Clinical Pediatrics 2017;35(6):412-414
Objective To explore the clinical features of nephrotic syndrome combined with H1N1 influenza. Methods The clinical manifestations, laboratory and image examinations, treatment, and prognosis of nephrotic syndrome combined H1N1 influenza were retrospectively analyzed in 15 children with. Results All of 15 children with nephrotic syndrome met the diagnostic criteria of H1N1 influenza. The median age of all children was 4-year-8-month old (2-year-2-month to 6-year-9-month). All children were treated with hormone alone or combined with other immunosuppressive drugs. Three cases were severe and another 5 cases were critically ill. Four cases were complicated with recurrence of nephrotic syndrome, 2 of which suffered from acute renal insufficiency. All children were given oseltamivir as antiviral treatment at admission. Four cases took oseltamivir within 48 hours of onset and showed mild symptoms. Fourteen children with H1N1I influenza were cured, their urinary proteins were significantly decreased or converted to negative, and the median hospital stay was 8 days (1 to 25 days). One child died of acute necrotizing encephalopathy and brain herniation. Conclusions Children with nephrotic syndrome are susceptible to severe or critical H1N1 influenza infections. During the epidemic of H1N1 influenza, the clinical preventive measures should be taken in children with nephrotic syndrome.
2.Tyk2 gene mutations in primary immunodeficiency disease:a case report and literature review
Tingyan HE ; Li YU ; Fangfang LIANG ; Yu XIA ; Jun YANG
Journal of Clinical Pediatrics 2016;34(10):779-782
Objective To explore the clinical features and diagnosis of primary immunodeifciency disease caused byTyk2 gene mutations.Methods Clinical data from the ifrst case in China diagnosed of primary immunodeifciency disease caused by Tyk2 gene mutation were retrospectively analyzed, and related literature was reviewed.Results One year and 3 month old boy suffered with repeated pulmonary infection, chronic otitis media, intractable eczema like rash, repeated skin abscess, HSV infection, intracellular bacterial infection, and remarkedly increased total IgE. It was detected that compound heterozygous mutations of c.2269C>G in No. 16 exon and c.149delC in No. 3 exon inTyk2 gene. Literature searching found other 8 cases (5 males and 3 females) of immune deifciency patients caused byTyk2 gene defects, all of which hadTyk2 gene homozygous mutations and presented with repeated infection of paranasal sinus and lung. In the 8 cases 6 cases were combined with mycobacterium tuverculosis infection, 4 cases had repeated virus infection, 4 cases had meningonecephalitis, 3 cases had intractable eczema like rash, 2 cases had salmonella enteritis, 1 case had remarkedly increased total IgE, one case had elevated eosinophils, 5 cases were born in intermarriage family and 1 case died of meningitis caused by unknown etiology.Conclusions When patients have repeated paranasal sinus infection and lung infection, combined with intracellular bacterial infection (including mycobacterium tuberculosis infection), and repeated virus infection or intractable eczema like rash, with or without increased total IgE, immunodeifciency disease caused by Tyk2 gene defection should be considered. Gene sequence analysis can assist in early diagnosis.
3.IPEX with congenital ichthyosiform skin lesions:a case report and literature review
Tingyan HE ; Yu XIA ; Fangfang LIANG ; Ying LUO ; Shilei JIA ; Jun YANG
Journal of Clinical Pediatrics 2017;35(8):620-624
Objective To explore the clinical phenotype, treatment and prognosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, and to improve pediatricians' knowledge of this disease. Methods Clinical data of a case of IPEX with congenital ichthyosiform skin lesions were retrospectively analyzed, and related literatures China were reviewed. Results The 2-month-11-day old boy came to our hospital due to ichthyosiform skin lesions accompanied by blood oozing in the head and feet exudatation, with severe sepsis and gastrointestinal perforation. He was died of multiple organ failure. DNA sequencing of whole-genome exon group showed a hemizygous mutation of c.1150G> A, p.A384> T in FOXP3 gene. His mother was a heterozygous mutation carrier, while his father was normal. Conclusions In addition to typical symptoms including early-onset refractory diarrhea, multiple endocrine disease and growth retardation, IPEX should be considered also in infants with ichthyosiform rash and severe infection. Gene sequencing will help diagnose the disease.
4.The clinical curative effect and evaluation of transumbilical single port laparoscopic cholecystectomy
Jianqiu WANG ; Haihua ZHOU ; Tingyan YANG ; Peidong SHI ; Jianping WANG ; Yueyu CHEN
Journal of Chinese Physician 2014;(z1):18-20
Objective To explore the feasibility and clinical value of transumbilical single port laparoscopic cholecystectomy . Methods In our hospital from 2010 October to 2013 August were selected with 120 patients were randomly divided into standard into two groups , 60 cases of transumbilical single port laparoscopic cholecystectomy ( Transumbilical Single Port Laparoscopic Cholecystec-tomy, TUSPLC) , 60 cases of the traditional four hole laparoscopic cholecystectomy ( Laparoscopic Cholecystectomy , LC) .Change rate were compared between the two groups , operation time , postoperative pain , postoperative intestinal function recovery time , postopera-tive drainage tube pulled out of time , postoperative hospitalization time , complications and wound condition index .Results The two groups in comparison , postoperative pain , postoperative drainage tube pulled out of time , postoperative hospitalization time of group TUSPLC and group LC were statistically different ( P <0.05 );while in operation , operation time , rate of change of postoperative in-testinal function recovery time , complications in two groups had no statistical difference ( P >0.05 ) , TUSPLC group wound high sat-isfaction.During the follow-up of 1~3 months, no abdominal pain and other symptoms , TUSPLC group umbilical scar .Conclusions TUSPLC is safe and effective , more minimally invasive , beauty effect is good;the operation is relatively difficult , conditional hospi-tal can be carried out gradually and promotion .
5. Clinical and genetic analysis of 11 cases with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome
Zhi YANG ; Tingyan HE ; Xiaodong ZHAO ; Jun YANG
Chinese Journal of Pediatrics 2018;56(7):524-528
Objective:
To investigate the clinical, inflammatory and genetic characteristics of cases with periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Methods:
Clinical and inflammatory manifestations and gene sequencing of 11 cases with PFAPA were retrospectively analyzed. Inflammatory markers including white blood cell (WBC) , C reactive protein (CRP) , and serum amyloid A (SAA) were compared between febrile period and intermittent period. Fifteen normal children were taken as healthy controls. The levels of plasma inflammatory cytokines including interleukin(IL)1β, IL-6, IL-17, tumor necrosis factor(TNF)-α, interferon (IFN)-γ, and granulocyte-colony stimulating factor(G-CSF) were compared between febrile period and intermittent period with paired-sample
6.Clinical outcomes of bridging therapy with fondaparinux versus low-molecular-weight heparin in patients undergoing atrial fibrillation ablation.
Feifei ZHANG ; Donghua ZHAO ; Xinhui PENG ; Hao YANG ; Tingyan ZHU ; Fumei HUANG ; Jian PENG
Journal of Southern Medical University 2014;34(4):448-452
OBJECTIVETo compare the efficacy and safety of bridging therapy with fondaparinux versus low-molecular-weight heparin (LMWH) in patients undergoing radiofrequency ablation for atrial fibrillation (AF).
METHODSAF patients undergoing radiofrequency ablation between January, 2009 and June, 2013 in Nanfang Hospital were analyzed. The patients received subcutaneous injection of either fondaparinux or LMWH as a bridging therapy during warfarin discontinuation 5 days before the ablation until a post-ablation international normalized ratio (INR) of 2.0-3.0 was achieved. Anticoagulant-related complications, identified and classified as thromboembolic and bleeding events, were compared between the two groups.
RESULTSA total of 465 patients (68% male; mean age 52.3∓15 years, range 25 to 80 years) were enrolled in the study, including 265 in fondaparinux group and 200 in LMWH group. Anticoagulation-related complications were observed in 3 patients in fondaparinux group, as compared with 13 in LMWH group (P=0.002), but the thromboembolic rate did not differ significantly between the two groups (P=0.111). Two patients in fondaparinux group and 8 in LMWH group showed bleeding complications (P=0.039). No cardiovascular death occurred in these patients during a mean follow-up period of 3 months.
CONCLUSIONSFondaparinux as the bridging therapy during catheter ablation for AF does not increase the risk of thromboembolic complications but slightly reduces the risk of bleeding compared to LMWH, suggesting its safety and effectiveness for periprocedural anticoagulation management in AF patients undergoing radiofrequency ablation.
Adult ; Aged ; Aged, 80 and over ; Anticoagulants ; therapeutic use ; Atrial Fibrillation ; surgery ; Catheter Ablation ; methods ; Female ; Heparin, Low-Molecular-Weight ; therapeutic use ; Humans ; Male ; Middle Aged ; Polysaccharides ; therapeutic use
7. Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review
Tingyan HE ; Nan ZHANG ; Yu XIA ; Ying LUO ; Chengrong LI ; Jun YANG
Chinese Journal of Pediatrics 2017;55(12):942-946
Objective:
To investigate the clinical features and genetic characteristics of cases with NBAS gene defects.
Method:
Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS’.
Result:
A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day’. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction. Her head circumference and height were 43.5 cm and 60 cm, respectively. She seemed pale. She had progeroid appearance with loose skin, sparse hair, proptosis and low-set ears. The cranial suture did no close and the anterior fontanel was about 6 cm×5 cm. Abdominal palpation showed that the liver was 2 cm below the right costal margin, and the spleen was 1.5 cm below the left rib. Both alanine aminotransferase(100-1 991 IU/L) and aspartate aminotransferase (191-1 367 IU/L) were persistently abnormal. Visual evoked potentials and fundus examination revealed optic nerve atrophy. Bone mineral density assessment showed osteoporosis. The IgG level was 2.0 g/L (3.41-19.6) and absolute count of CD19+B cells was 231.27/μl (608.8-2 167.7) . Her hemoglobin level was 53 g/L. Bone marrow smear showed serious hypoplasia in erythroid cell. The gene sequencing results showed NBAS gene c.5741C> T, pR1914H and c.6496-6497insA, p.S2166Ffs* 2 compound heterozygous mutations. A total of 8 literatures were collected including 57 cases with NBAS gene homozygous or compound heterozygous mutation. These 57 cases were characterized by short stature(88%, 50/57) , Pelger-Huët anomaly (75%, 43/57) , skeletal dysplasia (74%, 42/57), optic nerve atrophy (72%, 41/57), abnormality of liver enzymes or acute liver failure (42%,24/57), abnormalities of immune system(19%, 11/57), development delay of mental, language or sports(11%, 6/57). Other clinical manifestations such as progeroid appearance, proptosis and hypotonia were also common. NBAS gene c.5741G>A homozygous mutation accounted for 61% (35/57) cases.
Conclusion
Cases with NBAS gene defects often manifests as short stature, optic nerve atrophy, Pelger-Huët anomaly, skeletal dysplasia, recurrent infections, abnormality of liver enzymes, progeroid appearance, proptosis, hypotonia and immunodeficiency. Gene sequencing analysis showed NBAS gene homozygous or compound heterozygous mutations, and homozygous mutation of c.5741G>A was most common.
8.Effects of cucurbitacin B on cell proliferation and apoptosis in Hep-2 cells.
Tingyan LIU ; Meixia ZHANG ; Yihui DENG ; Hongliang ZHANG ; Chunyan SUN ; Xiaolin YANG ; Wenyue JI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2008;22(9):403-407
OBJECTIVE:
To investigate the mechanism underlying the anticancer activity of cucurbitacin B on human laryngeal cancer.
METHOD:
Hep-2 cells were treated with different concentrations of cucurbitacin B for different time. MTT assay was used to evaluate cell proliferation. Flow cytometry with PI staining and fluorescent microscopy with Hoechst 33258 staining were used to estimate cell cycle distribution and cell apoptosis. Expression of p-STAT3, cyclin B1 and Bcl-2 proteins was evaluated by Western blot assay. In vivo inhibitory effects of cucurbitacin B on tumor growth was evaluated in a nude mouse xenograft model.
RESULT:
Cucurbitacin B inhibited cellular proliferation in a dose and time dependent manner (P <0.05 or 0.01). Flow cytometry analysis showed that treatment with cucurbitacin B resulted in accumulation of cells at the G2/M phase of the cell cycle and cell apoptosis in a dose and time dependent manner (P <0.05 or P <0.01). Marked morphological changes of cell apoptosis including condensation of chromatin, nuclear fragmentation and apoptotic bodies were observed clearly by Hoechst 33258 staining. Western blot analysis demonstrated that the expression of p-STAT3, cyclin B1 and Bcl-2 proteins was suppressed significantly. In vivo studies showed that the inhibitory rates on laryngeal squamous carcinoma xenograft model were 32.43%, 43.24% and 70.27% for lower, moderate and higher dosage group, respectively.
CONCLUSION
Cucurbitacin B inhibited cell proliferation and induced apoptosis of Hep-2 cells by suppressing STAT3 signal pathway, down regulating the expression of cyclin B1 and Bcl-2 proteins.
Animals
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Apoptosis
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drug effects
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Cell Cycle
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drug effects
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Cell Line, Tumor
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Cell Proliferation
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drug effects
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Cyclin B1
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metabolism
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Gene Expression Regulation, Neoplastic
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Humans
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Mice
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Mice, Inbred BALB C
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Mice, Nude
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Proto-Oncogene Proteins c-bcl-2
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metabolism
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STAT3 Transcription Factor
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metabolism
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Triterpenes
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pharmacology
;
Xenograft Model Antitumor Assays
9.Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome.
Tingyan HE ; Dong CUI ; Yanyan HUANG ; Xianze LUO ; Jun YANG
Chinese Journal of Medical Genetics 2018;35(6):844-847
OBJECTIVE:
To explore the clinical phenotype, genetic variant, treatment and prognosis of a child with mosaic variegated aneuploidy syndrome (MVAS).
METHODS:
Immunological marker screening, chromosomal karyotyping and whole exome sequencing were carried out.
RESULTS:
The 1-year-11-month old girl has featured severe growth retardation, feeding difficulty, short stature, microcephaly, facial anomalies, scoliosis, visual impairment, hypotonia, chylothorax, and renal lesions. Karyotype analysis of peripheral blood lymphocytes has discovered variegated aneuploidy cells (6/11). DNA sequencing has identified compound heterozygous c.826delG (p.Asp276Metfs*21) and c.2441G>A (p.Arg814His) variants in the BUB1B gene, which were inherited from her father and mother, respectively.
CONCLUSION
The compound heterozygous variants of the BUB1B gene probably underlie the pathogenesis in this patient.
Aneuploidy
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Chromosome Disorders
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diagnosis
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genetics
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DNA Mutational Analysis
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Female
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Genetic Testing
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Humans
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Infant
;
Mosaicism
10.Clinical features and genetic characteristics of primary immunodeficiency disease with skin symptoms in 15 children
Tingyan HE ; Yanyan HUANG ; Zhongxiang QI ; Xianze LUO ; Jun YANG
Journal of Clinical Pediatrics 2018;36(1):19-24
Objective To explore the clinical features and genetic characteristics of primary immunodeficiency disease (PIDs) with skin symptoms in children. Methods The clinical data of PIDs with skin symptoms in 15 children from January 2014 to March 2017 were analyzed retrospectively. Results The median age at onset in 15 children was 4 months (neonatal period to 11 years 8 months). All of them showed obvious skin symptoms, including eczema or chilblain rash, pustular psoriasis, skin infections, subcutaneous hemorrhage or skin ecchymosis, ichthyosiform erythroderma, progeroid appearance, or other cutaneous vasculitis. The accompanying manifeslations included recurrent infections, auto inflammation, autoimmunity, growth retardation, or lymphoid proliferation, and impairment of brain, lung, kidney and other important organs. Eosinophil counts were increased in 5 children, IgE levels were elevated in 5 children, and 4 children were abnormal in both indicators. Gene detection showed WAS, RNASEH2C, NLRP12, IL36RN, NRAS, PIK3CD, STAT1, FOXP3, STAT3, DOCK8, TYK2, SPINK5, NBAS or ITGB2 gene mutations, respectively. Two children died from multiple organ dysfunction syndrome, 1 child was lost for follow up, the remaining 12 children survived and were under the individualized treatment. Conclusions A variety of PIDs can have skin symptoms. When accompanied by recurrent infections, auto inflammation, autoimmune, growth retardation, or lymph proliferation, PIDs should be considered, and gene detection is helpful for the diagnosis.