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[PMID]: 25141071
[Au] Autor:Kuenzig ME; Rezaie A; Seow CH; Otley AR; Steinhart AH; Griffiths AM; Kaplan GG; Benchimol EI
[Ad] Address:Department of Medicine, University of Calgary, Calgary, AB, Canada.
[Ti] Title:Budesonide for maintenance of remission in Crohn's disease.
[So] Source:Cochrane Database Syst Rev;8:CD002913, 2014.
[Is] ISSN:1469-493X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Corticosteroids are effective for induction, but not maintenance of remission in Crohn's disease. Significant concerns exist regarding the risk for adverse events, particularly when corticosteroids are used for long treatment courses. Budesonide is a glucocorticoid with limited systemic bioavailability due to extensive first-pass hepatic metabolism and is effective for induction of remission in Crohn's disease. OBJECTIVES: To evaluate the efficacy and safety of oral budesonide for maintenance of remission in Crohn's disease. SEARCH METHODS: The following databases were searched from inception to 12 June 2014: PubMed, MEDLINE, EMBASE, CENTRAL, the Cochrane IBD/FBD Group Specialised Trial Register, and ClinicalTrials.gov. Reference lists of articles, as well as conference proceedings were manually searched. SELECTION CRITERIA: Randomized controlled trials comparing budesonide to a control treatment, or comparing two doses of budesonide, were included. The study population included patients of any age with quiescent Crohn's disease. DATA COLLECTION AND ANALYSIS: Two independent investigators reviewed studies for eligibility, extracted data and assessed study quality using the Cochrane risk of bias tool. The primary outcome was maintenance of remission at various reported follow-up times during the study. Secondary outcomes included: time to relapse, mean change in CDAI, clinical, histological, improvement in quality of life, adverse events and study withdrawal. We calculated the risk ratio (RR) and corresponding 95% confidence interval (95% CI) for dichotomous outcomes and the mean difference (MD) and 95% CI for continuous outcomes. Data were analysed on an intention-to-treat basis. The Chi(2) and I(2) statistics were used to assess heterogeneity. Random-effects models were used to allow for expected clinical and statistical heterogeneity. The overall quality of the evidence supporting the primary outcome was assessed using the GRADE criteria. MAIN RESULTS: Twelve studies (n = 1273 patients) were included in the review: eight studies compared budesonide to placebo, one compared budesonide to 5-aminosalicylates, one compared budesonide to traditional systemic corticosteroids, one compared budesonide to azathioprine, and one compared two doses of budesonide. Nine studies used a controlled ileal release form of budesonide, while three used a pH-modified release formulation. Nine studies were judged to be at low risk of bias. Three studies were judged to be at high risk of bias due to blinding and one of these studies also had inadequate allocation concealment. Budesonide 6 mg daily was no more effective than placebo for maintenance of remission at 3 months, 6 months or 12 months. At three months 64% of budesonide 6 mg patients remained in remission compared to 52% of placebo patients (RR 1.25, 95% CI 1.00 to 1.58; 6 studies, 540 patients). A GRADE analysis indicated that the overall quality of the evidence for this outcome was low due to moderate heterogeneity (I(2) = 56%) and sparse data (315 events). At six months 61% of budesonide 6 mg patients remained in remission compared to 52% of placebo patients (RR 1.15, 95% CI 0.95 to 1.39; 5 studies, 420 patients). A GRADE analysis indicated that the overall quality of the evidence for this outcome was moderate due to sparse data (238 events). At 12 months 55% of budesonide 6 mg patients remained in remission compared to 48% of placebo patients (RR 1.13; 95% CI 0.94 to 1.35; 5 studies, 420 patients). A GRADE analysis indicated that the overall quality of the evidence for this outcome was moderate due to sparse data (215 events). Similarly, there was no significant benefit for budesonide 3 mg compared to placebo at 6 and 12 months. There was no statistically significant difference in continued remission at 12 months between budesonide and weaning doses of prednisolone (RR 0.79; 95% CI 0.55 to 1.13; 1 study, 90 patients). A GRADE analysis indicated that the overall quality of the evidence supporting this outcome was low due to sparse data (51 events) and high risk of bias (no blinding). Budesonide 6 mg was better than mesalamine 3 g/day at 12 months (RR 2.51, 95% CI 1.03 to 6.12; 1 study, 57 patients). A GRADE analysis indicated that the overall quality of the evidence supporting this outcome was very low due to very sparse data (18 events) and high risk of bias (no blinding). There was no statistically significant difference in continued remission at 12 months between budesonide and azathioprine (RR 0.81; 95% CI 0.61 to 1.08; 1 study 77 patients). A GRADE analysis indicated that the overall quality of the evidence supporting this outcome was very low due to sparse data (55 events) and high risk of bias (single-blind and no allocation concealment). The use of budesonide 6 mg resulted in slight improvements in CDAI scores when assessed at 6 months (MD -24.30, 95% CI -46.31 to -2.29) and 12 months (MD -23.49, 95% CI -46.65 to -0.32) and mean time to relapse of disease (MD 59.93 days, 95% CI 19.02 to 100.84). Mean time to relapse was significantly shorter for patients receiving budesonide than for those receiving azathioprine (MD -58.00, 95% CI -96.68 to -19.32). Adverse events were not more common in patients treated with budesonide compared to placebo (6 mg: RR 1.51, 95% CI 0.90 to 2.52; 3 mg: RR 1.19, 95% CI 0.63 to 2.24). These events were relatively minor and did not result in increased rates of study withdrawal. Commonly reported treatment-related adverse effects included acne, moon facies, hirsutism, mood swings, insomnia, weight gain, striae, and hair loss. Abnormal adrenocorticoid stimulation tests were seen more frequently in patients receiving both 6 mg (RR 2.88, 95% CI 1.72 to 4.82) and 3 mg daily (RR 2.73, 95% CI 1.34 to 5.57) compared to placebo. AUTHORS' CONCLUSIONS: These data suggest budesonide is not effective for maintenance of remission in CD, particularly when used beyond three months following induction of remission. Budesonide does have minor benefits in terms of lower CDAI scores and longer time to relapse of disease. However, these benefits are offset by higher treatment-related adverse event rates and more frequent adrenocorticoid suppression in patients receiving budesonide.
[Mh] MeSH terms primary: Anti-Inflammatory Agents/administration & dosage
Budesonide/administration & dosage
Crohn Disease/drug therapy
Maintenance Chemotherapy/methods
[Mh] MeSH terms secundary: Administration, Oral
Humans
Induction Chemotherapy/methods
Randomized Controlled Trials as Topic
Recurrence/prevention & control
Risk
[Pt] Publication type:JOURNAL ARTICLE; META-ANALYSIS; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Name of substance:0 (Anti-Inflammatory Agents); 51333-22-3 (Budesonide)
[Em] Entry month:1409
[Js] Journal subset:IM
[Da] Date of entry for processing:140901
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD002913.pub3

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[PMID]: 25049390
[Au] Autor:Chen PC; Yin J; Yu HW; Yuan T; Fernandez M; Yung CK; Trinh QM; Peltekova VD; Reid JG; Tworog-Dube E; Morgan MB; Muzny DM; Stein L; McPherson JD; Roberts AE; Gibbs RA; Neel BG; Kucherlapati R
[Ad] Address:Department of Genetics, Harvard Medical School, Boston, MA 02115;Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115;Institute of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 70457, Ta...
[Ti] Title:Next-generation sequencing identifies rare variants associated with Noonan syndrome.
[So] Source:Proc Natl Acad Sci U S A;111(31):11473-8, 2014 Aug 5.
[Is] ISSN:1091-6490
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities. Known causative genes account for 70-80% of clinically diagnosed NS patients, but the genetic basis for the remaining 20-30% of cases is unknown. We performed next-generation sequencing on germ-line DNA from 27 NS patients lacking a mutation in the known NS genes. We identified gain-of-function alleles in Ras-like without CAAX 1 (RIT1) and mitogen-activated protein kinase kinase 1 (MAP2K1) and previously unseen loss-of-function variants in RAS p21 protein activator 2 (RASA2) that are likely to cause NS in these patients. Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis. Two patients had more than one disease-associated variant. Moreover, the diagnosis of an individual initially thought to have NS was revised to neurofibromatosis type 1 based on an NF1 nonsense mutation detected in this patient. Another patient harbored a missense mutation in NF1 that resulted in decreased protein stability and impaired ability to suppress RAS-ERK activation; however, this patient continues to exhibit a NS-like phenotype. In addition, a nonsense mutation in RPS6KA3 was found in one patient initially diagnosed with NS whose diagnosis was later revised to Coffin-Lowry syndrome. Finally, we identified other potential candidates for new NS genes, as well as potential carrier alleles for unrelated syndromes. Taken together, our data suggest that next-generation sequencing can provide a useful adjunct to RASopathy diagnosis and emphasize that the standard clinical categories for RASopathies might not be adequate to describe all patients.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Em] Entry month:1408
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1073/pnas.1324128111

  3 / 5339 MEDLINE  
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[PMID]: 25097048
[Au] Autor:El-Karaksy H; Anwar G; El-Raziky M; Mogahed E; Fateen E; Gouda A; El-Mougy F; El-Hennawy A
[Ad] Address:Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address: hanaakaraksy@kasralainy.edu.eg....
[Ti] Title:Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.
[So] Source:Arab J Gastroenterol;15(2):63-7, 2014 Jun.
[Is] ISSN:2090-2387
[Cp] Country of publication:Egypt
[La] Language:eng
[Ab] Abstract:BACKGROUND AND STUDY AIMS: Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability. PATIENTS AND METHODS: We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt. RESULTS: Eighteen patients (58%) were males. Their ages ranged between 6 months to 12 years. The main presenting complaint was progressive abdominal distention in 55%. Twelve patients (38.7%) had a history of recurrent attacks of convulsions; four had an erroneous diagnosis of hypocalcaemia and epilepsy. Doll-like facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound. Hypertriglyceridaemia was present in 93.6%, hyperlactacidaemia in 51.6% and hyperuricaemia in 19.4%. Liver biopsy showed markedly distended hepatocytes with well distinct cytoplasmic boundaries and 32% had macrovesicular fatty changes. Serum creatine kinase was elevated in 64.6% of patients and correlated positively and significantly with age (r=0.7 and P=<0.001), while serum triglycerides correlated negatively with age (r=-0.4 and P=0.05). CONCLUSION: Blood glucose assessment and search for hepatomegaly in an infant with recurrent seizures may prevent delay in the diagnosis. A huge soft liver reaching the left midclavicular line that appears echogenic on ultrasonography is characteristic of GSD III. A distended hepatocyte with rarified cytoplasm is pathognomonic but not diagnostic. Hypertriglyceridaemia correlates negatively with age, in contrary to CK level.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1408
[Js] Journal subset:IM
[St] Status:In-Process

  4 / 5339 MEDLINE  
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[PMID]: 24225993
[Au] Autor:Carapito R; Paul N; Untrau M; Ott L; Corradini N; Poignant S; Geffroy L; Caldagues E; Heymann MF; Cassagnau E; Isidor B; Bahram S
[Ad] Address:Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie. Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France....
[Ti] Title:A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.
[So] Source:J Hum Genet;59(1):57-9, 2014 Jan.
[Is] ISSN:1435-232X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Noonan syndrome (NS), an autosomal dominant multisystem disorder, is caused by the dysregulation of the RAS-MAPK pathway and is characterized by short stature, heart defects, pectus excavatum, webbed neck, learning problems, cryptorchidism and facial dysmorphism. We here present the clinical and molecular characterization of a family with NS and multiple giant cell lesions (MGCLs). The proband is a 12-year-old girl with NS and MGCL. Her mother shows typical NS without MGCL. Whole-exome sequencing of the girl, her mother and her healthy maternal grand parents revealed a previously unobserved mutation in exon 5 of the PTPN11 gene (c.598 A>T; p.N200Y), transmitted from the mother to the proband. As no other modification in the RAS-MAPK pathway genes as related to Rasopathies was detected in the proband, this report demonstrates for the first time that a unique mutation affecting this, otherwise unaffected signaling route, can cause both NS and NS/MGCL in the same family. This observation further confirms that NS/MGCL is not a distinct entity but rather that MGCL represents a rare complication of NS. Moreover, the localization of the p.N200Y mutation suggests an alternative molecular mechanism for the excessive phosphatase activity of the PTPN11-encoded protein.
[Mh] MeSH terms primary: Giant Cells/pathology
Mutation
Noonan Syndrome/genetics
Noonan Syndrome/pathology
Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics
src Homology Domains/genetics
[Mh] MeSH terms secundary: Biopsy
Child
DNA Mutational Analysis
Exome
Facies
Female
Humans
Male
Phenotype
Protein Tyrosine Phosphatase, Non-Receptor Type 11/chemistry
Synovial Membrane/metabolism
Synovial Membrane/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 11)
[Em] Entry month:1407
[Cu] Class update date: 140917
[Lr] Last revision date:140917
[Js] Journal subset:IM
[Da] Date of entry for processing:140127
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2013.118

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[PMID]: 23495752
[Au] Autor:Maystadt I; Destree A; Benoit V; Aeby A; Lederer D; Moortgat S; Jurkiewicz D; Krajewska-Walasek M; Hanauer A; Thomas GM
[Ad] Address:Centre de Génétique Humaine.
[Ti] Title:RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.
[So] Source:Clin Genet;85(1):96-9, 2014 Jan.
[Is] ISSN:1399-0004
[Cp] Country of publication:Denmark
[La] Language:eng
[Mh] MeSH terms primary: Coffin-Lowry Syndrome/diagnosis
Coffin-Lowry Syndrome/genetics
Mutation
Nondisjunction, Genetic
Phenotype
Ribosomal Protein S6 Kinases, 90-kDa/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/diagnosis
Abnormalities, Multiple/genetics
Facies
Female
Humans
Male
Pedigree
[Pt] Publication type:CASE REPORTS; LETTER
[Nm] Name of substance:EC 2.7.11.1 (Ribosomal Protein S6 Kinases, 90-kDa); EC 2.7.11.1 (ribosomal protein S6 kinase, 90kDa, polypeptide 3)
[Em] Entry month:1407
[Cu] Class update date: 140916
[Lr] Last revision date:140916
[Js] Journal subset:IM
[Da] Date of entry for processing:131216
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12122

  6 / 5339 MEDLINE  
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[PMID]: 25165005
[Au] Autor:Amalfitano S; Del Bon A; Zoppini A; Ghergo S; Fazi S; Parrone D; Casella P; Stano F; Preziosi E
[Ad] Address:Water Research Institute (IRSA-CNR), Via Salaria Km 29.300, 00015 Monterotondo, Rome, Italy. Electronic address: amalfitano@irsa.cnr.it....
[Ti] Title:Groundwater geochemistry and microbial community structure in the aquifer transition from volcanic to alluvial areas.
[So] Source:Water Res;65:384-94, 2014 Nov 15.
[Is] ISSN:1879-2448
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Groundwaters may act as sinks or sources of organic and inorganic solutes, depending on the relative magnitude of biochemical mobilizing processes and groundwater-surface water exchanges. The objective of this study was to link the lithological and hydrogeological gradients to the aquatic microbial community structure in the transition from aquifer recharge (volcanic formations) to discharge areas (alluvial deposits). A field-scale analysis was performed along a water table aquifer in which volcanic products decreased in thickness and areal extension, while alluvial deposits became increasingly important. We measured the main groundwater physical parameters and the concentrations of major and trace elements. In addition, the microbial community structure was assessed by estimating the occurrence of total coliforms and Escherichia coli, the prokaryotic abundance, the cytometric and phylogenetic community composition. The overall biogeochemical asset differed along the aquifer flow path. The concentration of total and live prokaryotic cells significantly increased in alluvial waters, together with the percentages of Beta- and Delta-Proteobacteria. The microbial propagation over a theoretical groundwater travel time allowed for the identification of microbial groups shifting significantly in the transition between the two different hydrogeochemical facies. The microbial community structure was intimately associated with geochemical changes, thus it should be further considered in view of a better understanding of groundwater ecology and sustainable management strategies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1409
[Js] Journal subset:IM
[St] Status:In-Data-Review

  7 / 5339 MEDLINE  
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[PMID]: 25222778
[Au] Autor:Kotecha UH; Movva S; Sharma D; Verma J; Puri RD; Verma IC
[Ti] Title:Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.
[So] Source:Indian J Med Res;140(1):55-9, 2014 Jul.
[Is] ISSN:0971-5916
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:BACKGROUND & OBJECTIVES: Multiple suphphatase deficiency (MSD) is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1). We describe here the mutation analysis of a case of MSD. METHODS: The proband was a four year old boy with developmental delay followed by neuroregression. He had coarse facies, appendicular hypertonia, truncal ataxia and ichthyosis limited to both lower limbs. Radiographs showed dysostosis multiplex. Clinical suspicion of MSD was confirmed by enzyme analysis of four enzymes of the sulphatase group. RESULTS: The patient was compound heterozygote for a c.451A>G (p.K151E) substitution in exon 3 and a single base insertion mutation (c.690_691 InsT) in exon 5 in the SUMF1 gene. The bioinformatic analysis of the missense mutation revealed no apparent effect on the overall structure. However, the mutated 151-amino acid residue was found to be adjacent to the substrate binding and the active site residues, thereby affecting the substrate binding and/or catalytic activity, resulting in almost complete loss of enzyme function. CONCLUSIONS: The two mutations identified in the present case were novel. This is perhaps the first report of an insertion mutation in SUMF1 causing premature truncation of the protein.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1409
[Js] Journal subset:IM
[St] Status:In-Data-Review

  8 / 5339 MEDLINE  
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[PMID]: 23709540
[Au] Autor:Mohan RP; Verma S; Agarwal N; Singh U
[Ad] Address:Department of Oral Medicine & Radiology, Kothiwal Dental College & Research Center, Moradabad, Uttar Pradesh, India. sasan_ravi@rediffmail.com
[Ti] Title:Treacher Collins syndrome: a case report.
[So] Source:BMJ Case Rep;2013, 2013.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome.
[Mh] MeSH terms primary: Mandibulofacial Dysostosis/genetics
[Mh] MeSH terms secundary: Adolescent
Facies
Female
Humans
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1409
[Js] Journal subset:IM
[Da] Date of entry for processing:130527
[St] Status:MEDLINE

  9 / 5339 MEDLINE  
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[PMID]: 25190157
[Au] Autor:Zheng J; Huang Y; Zhao X; Sheng H; Cheng J; Zhou Z; Li X; Mao X; Liu L
[Ad] Address:The Guangzhou Women and Children's Medical Centre, Guangzhou 510623, China....
[Ti] Title:[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
[So] Source:Zhonghua Er Ke Za Zhi;52(6):403-8, 2014 Jun.
[Is] ISSN:0578-1310
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase B(ARSB), which is required in the degradation of dermatan sulfate and chondroitin sulfate. The deficiency of ARSB leads to an accumulation of dermatan sulfate and chondroitin sulfate in lysosomes and gross excretion in the urine.Few articles about clinical study and ARSB gene mutation analysis of Chinese MPS VI patients were published. This study aimed to explore the clinical features and characteristics of ARSB gene in Chinese children with MPS VI. METHOD: Thirteen children were diagnosed as MPS VI by ARSB enzyme activity determination during the period from 2009 to 2013. Their clinical features, radiological findings and urine glycosaminoglycan (GAG) levels were retrospectively reviewed. Direct sequencing was used to identify any mutation in the ARSB gene. RESULT: Thirteen children were diagnosed at the average age of (3.9 ± 2.2) years with 6 male and 7 female. All of these children presented with severe form and onset at an early age of (1.5 ± 0.8) years.Other clinical features included coarse facies, short stature, skeleton deformity, corneal clouding, hepatosplenomegaly with normal intelligence. The radiological findings in all children were characteristic of dysostosis multiplex, like abnormal development of vertebral bodies of the spine, campylorrhachia and paddle-shaped widened ribs. The MRI in case 2 showed cervical cord compression and multiple cysts degeneration in the corona radiate, cella lateralis and callosum.High urine GAG levels were detected, (307.10 ± 112.14) mg/L (Normally below 70 mg/L) and (722.28 ± 245.68) µg/mg creatinine. The ARSB enzyme activity in leukocytes was low, (13.29 ± 6.22) nmol/(mg×h) [Normal range (47-169) nmol/(mg×h)] by fluorogenic assay and (0.24 ± 0.18) U/g [Normal range (1.01-11.47) U/g] by colorimetric assay. A total of 11 mutations were identified by molecular analysis, including seven previously reported mutations (p.L72R, p.G167R, p.G303E, p.F399L, p. T442M, p.Y255X and p.R327X) and four novel mutations (p.Y175D, p.S403X, p.S464X and large deletion including ex. 2, 3). The c.1197C>G (p.F399L) mutation was the most common mutation in this study (31%). CONCLUSION: The severe form of MPS VI is characterized by early onset and rapid illness progression. Both the radiological findings and increased urine GAG are important clues to diagnose MPS VI.Large decrease or absence of ARSB activity is diagnostic for MPS VI.Four novel mutations of ARSB gene were identified. The reported mutation c.1197C>G (p.F399L) was the hot-spot mutation in this study.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1409
[Js] Journal subset:IM
[St] Status:In-Process

  10 / 5339 MEDLINE  
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[PMID]: 20500075
[Au] Autor:Makeyev AV; Bayarsaihan D
[Ti] Title:Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
[So] Source:Cleft Palate Craniofac J;48(1):109-16, 2011 Jan.
[Is] ISSN:1545-1569
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: The aim of this study is to identify gene targets of TFII-I transcription factors involved in craniofacial development. DESIGN: Recent findings in individuals with Williams-Beuren syndrome who show facial dysmorphism and cognitive defects have pointed to TFII-I genes (GTF2I and GTF2IRD1) as the prime candidates responsible for these clinical features. However, TFII-I proteins are multifunctional transcriptional factors regulating a number of genes during development, and how their haploinsufficiency leads to the Williams-Beuren syndrome phenotype is currently unknown. RESULTS: Here we report the identification of three genes with a well-established relevance to craniofacial development as direct TFII-I targets. These genes, craniofacial development protein 1 (Cfdp1), Sec23 homolog A (Sec23a), and nuclear receptor binding SET domain protein 1 (Nsd1), contain consensus TFII-I binding sites in their proximal promoters; the chromatin immunoprecipitation analysis showed that TFII-I transcription factors are recruited to these sites in vivo. CONCLUSIONS: The results suggest that transcriptional regulation of these genes by TFII-I proteins could provide a possible genotype-phenotype link in Williams-Beuren syndrome.
[Mh] MeSH terms primary: Carrier Proteins/genetics
Nuclear Proteins/genetics
Proteins/genetics
Transcription Factors, TFII/genetics
Vesicular Transport Proteins/genetics
Williams Syndrome/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/genetics
Animals
Chromatin Immunoprecipitation
Electrophoretic Mobility Shift Assay
Embryonic Development/genetics
Gene Expression Profiling
Mice
Microarray Analysis
Muscle Proteins/genetics
Phenotype
Real-Time Polymerase Chain Reaction
Trans-Activators/genetics
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Carrier Proteins); 0 (Cfdp protein, mouse); 0 (Gtf2i protein, mouse); 0 (Gtf2ird1 protein, mouse); 0 (Muscle Proteins); 0 (Nsd1 protein, mouse); 0 (Nuclear Proteins); 0 (Proteins); 0 (Sec23a protein, mouse); 0 (Trans-Activators); 0 (Transcription Factors, TFII); 0 (Vesicular Transport Proteins)
[Em] Entry month:1407
[Cu] Class update date: 140914
[Lr] Last revision date:140914
[Js] Journal subset:D; IM
[Da] Date of entry for processing:110126
[St] Status:MEDLINE
[do] DOI:10.1597/09-093


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