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| 1 | Pediatric Wilson disease presenting as acute liver failure:Prognostic indices显示文摘BACKGROUND Acute liver failure(ALF)can be a primary presentation of Wilson disease(WD).Mortality rates are high in WD with ALF(WDALF).Predictions of mortality in WDALF vary by model and are sometimes contradictory,perhaps because few patients are studied or WD diagnoses are questionable.AIM To determine the outcomes among well-documented WDALF patients and assess mortality model performance in this cohort.METHODS We reviewed the medical records of our pediatric WDALF patients(n=41 over 6-years-old,single-center retrospective study)and compared seven prognostic models(King’s College Hospital Criteria,model for end-stage liver disease/pediatric end-stage liver disease scoring systems,Liver Injury Unit[LIU]using prothrombin time[PT]or international normalized ratio[INR],admission LIU using PT or INR,and Devarbhavi model)with one another.RESULTS Among the 41 Han Chinese patients with ALF,WD was established by demonstrating ATP7B variants in 36.In 5 others,Kayser-Fleischer rings and Coombs-negative hemolytic anemia permitted diagnosis.Three died during hospitalization and three underwent liver transplantation(LT)within 1 mo of presentation and survived(7.3%each);35(85.4%)survived without LT when given enteral D-penicillamine and zinc-salt therapy with or without urgent plasmapheresis.Parameters significantly correlated with mortality included encephalopathy,coagulopathy,and gamma-glutamyl transpeptidase activity,bilirubin,ammonia,and serum sodium levels.Area under the receiver operating curves varied among seven prognostic models from 0.981 to 0.748 with positive predictive values from 0.214 to 0.429.CONCLUSION WDALF children can survive and recover without LT when given D-penicillamine and Zn with or without plasmapheresis,even after enlisting for LT. | Wei-Yuan Fang Kuerbanjiang Abuduxikuer Peng Shi Yi-Ling Qiu Jing Zhao Yu-Chuan Li Xue-Yuan Zhang Neng-Li Wang Xin-Bao Xie Yi Lu A S Knisely Jian-She Wang | 2021 | World Journal of Clinical Cases2021，9，14： | 4 |
| 2 | Diagnosis in bile acid-CoA:Amino acid N-acyltransferase deficiency显示文摘Cholate-CoA ligase(CCL) and bile acid-CoA:amino acid N-acyltransferase(BAAT) sequentially mediate bile-acid amidation.Defects can cause intrahepatic cholestasis.Distinction has required gene sequencing.We assessed potential clinical utility of immunostaining of liver for CCL and BAAT.Using commercially available antibodies against BAAT and CCL,we immunostained liver from an infant with jaundice,deficiency of amidated bile acids,and transcription-terminating mutation in BAAT.CCL was normally expressed.BAAT expression was not detected.Immunostaining may facilitate diagnosis in bileacid amidation defects. | Nedim Hadzi Laura N Bull Peter T Clayton AS Knisely | 2012 | World Journal of Gastroenterology2012，18，25： | 3 |
| 3 | Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis显示文摘Progressive familial intrahepatic cholestasis(PFIC) type 2 is caused by mutations in ABCB11,which encodes bile salt export pump(BSEP).We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age,with normal serumγ-glutamyltransferase.Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi,while multidrug resistance protein 3 was expressed adequately.Novel mutations in ABCB11,a four-nucleotide deletion in exon 3,c.90_93delGAAA,and a single-nucleotide insertion in exon 5,c.249_250insT, were identified,with confirmation in her parents. These mutations were predicted to lead to synthesis of truncated forms of BSEP.Immunostaining and mutation analysis thus established the diagnosis of PFIC type 2. | Suporn Treepongkaruna Amornphun Gaensan Paneeya Pienvichit Ondrej Luksan AS Knisely Pattana Sornmayura Milan Jirsa | 2009 | World Journal of Gastroenterology2009，15，34： | 3 |
| 4 | Recurrent acute liver failure associated with novel SCYL1 mutation:A case report显示文摘BACKGROUND Pediatric recurrent acute liver failure(RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside;intermittent exposure to toxins, as with ingestions; and metabolic disorders,among them the fever-associated crises ascribed to biallelic mutations in SCYL1,with RALF beginning in infancy. SCYL1 disease manifest with RALF, as known to date, includes central and peripheral neurologic and muscular morbidity(hepatocerebellar neuropathy syndrome). Primary ventilatory and skeletal diseases also have been noted in some reports.CASE SUMMARY We describe a Han Chinese boy in whom fever-associated RALF began at age 14 mo. Bilateral femoral head abnormalities and mild impairment of neurologic function were first noted aged 8 years 6 mo. Liver biopsy after the third RALF episode(7 years) and during resolution of the fourth RALF episode(8 years 6 mo) found abnormal architecture and hepatic fibrosis, respectively. Whole-exome sequencing revealed homozygosity for the novel frameshift mutation c.92_93 insGGGCCCT, p.(H32 Gfs~*20) in SCYL1(parental heterozygosity confirmed).CONCLUSION Our findings expand the mutational and clinical spectrum of SCYL1 disease. In our patient a substantial neurologic component was lacking and skeletal disease was identified relatively late. | Jia-Qi Li Jing-Yu Gong A S Knisely Mei-Hong Zhang Jian-She Wang | 2019 | World Journal of Clinical Cases2019，7，4： | 2 |
| 5 | Importance of hypoxia in the biology and treatment of brain tumors显示文摘 | Knisely JP Rockwell S | 2002 | Neuroimaging Clin N Am2002，12，4： | 1 |
| 6 | Expression of inducible nitric oxide synthase and interleukin-12 in experimental necrotizing enterocolitis显示文摘 | Nadler EP Dickinson E Knisely A | 2000 | J Surg Res2000，92，1： | 1 |
| 7 | The low density lipoprotein receptor-related protein 1B retains beta-amyloid precursor protein at the cell surface and reduces amyloid-beta peptide production显示文摘 | Cam JA Zerbinatti CV Knisely JM | 2004 | Biological Chemistry2004，279，29： | 1 |
| 8 | Mutations in Bile Salt Export Pump ( ABCB11 ) in Two Children with Progressive Familial Intrahepatic Cholestasis and Cholangiocarcinoma显示文摘 | A.O. Scheimann S.S. Strautnieks A.S. Knisely J.A. Byrne R.J. Thompson M.J. Finegold | 2007 | The Journal of Pediatrics2007，，5： | 1 |
| 9 | Production of latent transforming growth factor-beta and other inhibitory factors by cultured murine iris and ciliary body cells显示文摘 | Bleicher P A Vibbaral C A | 1991 | Curr Eye Res1991，10，8： | 1 |
| 10 | The 7/al and e/a2 Hemicomplexes of Clathrin Adaptors AP-1 and AP-2 Harbor the Dileucine Recognition Site显示文摘 | DORAY B LEE I KNISELY J | 2007 | Molecular Biology of the Cell2007，18，5： | 1 |
| 11 | Mature survival results with preoperative cisplatin protracted infusion 5-fluorouracil,and 44-Gy radiotherapy for esophageal cancer显示文摘 | Kleinberg L Knisely J P Heitmiller R | 2003 | Int J Radiat Oncol Biol Phys2003，56，2： | 1 |
| 12 | Effective treatment of stage Ⅰ uterine papillary serous carcinoma with high dose-rate vaginal apex radiation (192Ir) and chemotherapy显示文摘 | Turner BC Knisely JPS Kacinski BM | 1998 | Int J Radiat Oncol Biol Phys1998，40，1： | 1 |
| 13 | Role of the immune system in mediating the antitumor effect of benzophenothiazine photodynamic therapy显示文摘 | Knisely TL Cincotta L | 1999 | Photochem Photobiol1999，69，： | 1 |
| 14 | The relationship between social support,help-seeking behavior and psychological distress in psychiatric clients Archive of Psychiatric显示文摘 | Knisely JE Northouse L | 1994 | Nursing1994，8，： | 1 |
| 15 | Expression of inducible nitric oxide synthase and interleukin 12 in experimental necrotizing cnterocolitis显示文摘 | Nadlcr EP Dickinson E Knisely A | | 0，，01： | 1 |
| 16 | Effective treatment of Stage Ⅰuterine papillary serous carcinoma with high dose-rate vaginal apex radiation (192 Ir) and chemotherapy显示文摘 | Turner BC Knisely JPS Kacinski BM | 1998 | Int J Radiat Oncol Biol Phys1998，40，1： | 1 |
| 17 | Role of the immune system in mediating the antitumor effect of benzophenothiazine photodynamic therapy 显示文摘 | Hendrzak-Henion JA Knisely TL Cincotta L | 1999 | Photochem Photobiol1999，69，： | 1 |
| 18 | MR imaging of the pleura and chest wall显示文摘 | KNISELY B L BRODERICK L S KUHLMAN J E | 2000 | Magn Reson Imaging Clin N Am2000，8，1： | 1 |
| 19 | Radiosurgery alone for 5 or more brain metastases:expert opinion survey显示文摘 | Knisely JP Yamamoto M Gross CP | | 0，，： | 1 |
| 20 | Decreased carbon dioxide sensitivity in infants of substance-abusing mothers显示文摘 | Knisely JS Sehnoll SH | 1995 | Pediatrics1995，95，6： | 1 |
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