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[PMID]: 29509141
[Au] Autor:Joller S; Stettler M; Locher I; Dettwiler M; Seefried F; Meylan M; Drögemüller C
[Ad] Address:Institut für Genetik, Vetsuisse-Fakultät, Universität Bern.
[Ti] Title:Fanconi-Bickel-Syndrom: eine bislang unerkannte Erbkrankheit beim Braunvieh. [Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh].
[So] Source:Schweiz Arch Tierheilkd;160(3):179-184, 2018 Mar.
[Is] ISSN:0036-7281
[Cp] Country of publication:Switzerland
[La] Language:ger
[Ab] Abstract:INTRODUCTION: This case report describes a new genetic disease of the Braunvieh breed in Switzerland. The bovine disorder also occurs in German Fleckvieh, and corresponds to human Fanconi-Bickel syndrome which is an inherited glycogen storage disease caused by mutations of the SLC2A2 gene encoding the glucose transporter GLUT2. This case report describes a single affected Original Braunvieh calf genotyped as homozygous for the FH2-associated SLC2A2 frame shift mutation. The clinical examination showed stunted growth, polyuria and polydipsia, as well as poor claw horn and coat quality. Necropsy revealed a pale cortex of the kidneys and a unilateral renal hypoplasia. Histology showed tubulonephrosis of the proximal tubules with protein- and glucose-rich contents. Glycogen accumulation was not evident in any organ. This finding is different from the reported lesions in two previously described GLUT2-deficient Fleckvieh heifers. In the presented case, growth retardation mainly seems to be associated with renal dysfunction. A direct gene test is available to eliminate the mutant allele from the population.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.17236/sat00152

  2 / 6164 MEDLINE  
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[PMID]: 29428045
[Au] Autor:White VB; Walsh KK; Foss KS; Amacker-North L; Lenarcic S; McNeely L; White RL
[Ti] Title:Genetic Testing for Hereditary Breast Cancer: The Decision to Decline.
[So] Source:Am Surg;84(1):154-160, 2018 Jan 01.
[Is] ISSN:1555-9823
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Genetic testing is important for comprehensive cancer care. Commercial analysis of the BRCA1/2 genes has been available since 1996, and testing for hereditary breast and ovarian cancer syndrome is well established. The National Comprehensive Cancer Network (NCCN) guidelines identify individuals for whom BRCA1/2 analysis is appropriate and define management recommendations for mutation carriers. Despite recommendations, not all who meet NCCN criteria undergo genetic testing. We assess the frequency that individuals meeting NCCN criteria decline BRCA1/2 analysis, as well as factors that affect the decision-making process. A retrospective chart review was performed from September 2013 through August 2014 of individuals who received genetic counseling at the Levine Cancer Institute. A total of 1082 individuals identified through the retrospective chart review met NCCN criteria for BRCA1/2 analysis. Of these, 267 (24.7%) did not pursue genetic testing. Of the Nontested cohort, 59 (22.1%) were disinterested in testing and 108 (40.4%) were advised to gather additional genetic or medical information about their relatives before testing. The remaining 100 (37.5%) individuals were insured and desired to undergo genetic testing but were prohibited by the expense. Eighty five of these 100 patients were responsible for the total cost of the test, whereas the remaining 15 faced a prohibitive copay expense. Financial concerns are a major deterrent to the pursuit of BRCA1/2 analysis among those who meet NCNN criteria, especially in patients diagnosed with breast or ovarian cancer. These findings highlight the need to address financial concerns for genetic testing in this high-risk population.
[Mh] MeSH terms primary: BRCA1 Protein/genetics
BRCA2 Protein/genetics
Biomarkers, Tumor/genetics
Breast Neoplasms/genetics
Decision Making
Genetic Testing
Patient Compliance
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
DNA Mutational Analysis
Female
Genetic Counseling
Humans
Male
Middle Aged
Pedigree
Risk Assessment
Risk Factors
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (BRCA1 Protein); 0 (BRCA1 protein, human); 0 (BRCA2 Protein); 0 (BRCA2 protein, human); 0 (Biomarkers, Tumor)
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[Js] Journal subset:IM
[Da] Date of entry for processing:180212
[St] Status:MEDLINE

  3 / 6164 MEDLINE  
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[PMID]: 29193904
[Au] Autor:Asur RS; Kimble DC; Lach FP; Jung M; Donovan FX; Kamat A; Noonan RJ; Thomas JW; Park M; Chines P; Vlachos A; Auerbach AD; Smogorzewska A; Chandrasekharappa SC
[Ad] Address:Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
[Ti] Title:Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
[So] Source:Mol Genet Genomic Med;6(1):77-91, 2018 Jan.
[Is] ISSN:2324-9269
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA. RESULTS: We describe here an FA-B patient with a mild phenotype. The DEB diagnostic test for FA revealed somatic mosaicism. We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. A four bp homology (GTAG) present at both ends of the breakpoint is consistent with microhomology-mediated duplication mechanism. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*). Duplication levels in the peripheral blood DNA declined from 93% to 7.9% in the span of eleven years. Moreover, the patient fibroblasts have shown 8% of wild-type (WT) allele and his carrier mother showed higher than expected levels of WT allele (79% vs. 50%) in peripheral blood, suggesting that the duplication was highly unstable. CONCLUSION: Unlike sequence point variants, intragenic duplications are difficult to precisely define, accurately quantify, and may be very unstable, challenging the proper diagnosis. The reversion of genomic duplication to the WT allele results in somatic mosaicism and may explain the relatively milder phenotype displayed by the FA-B patient described here.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review
[do] DOI:10.1002/mgg3.350

  4 / 6164 MEDLINE  
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[PMID]: 29390364
[Au] Autor:Salehi P; Stafford HJ; Glass RP; Leavitt A; Beck AE; McAfee A; Ambartsumyan L; Chen M
[Ad] Address:Division of Endocrine, Seattle Children's Hospital.
[Ti] Title:Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study.
[So] Source:Medicine (Baltimore);96(50):e9256, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Feeding intolerance in Prader-Willi syndrome (PWS) infants is well-recognized, but their swallow physiology is not well understood. Swallow dysfunction increases risks of respiratory compromise and choking, which have a high incidence in PWS. To investigate swallow pathology in PWS infants we undertook a retrospective review of videofluoroscopic swallow studies (VFSS) in infants with PWS seen at our institution. We hypothesize that VFSS will characterize swallow pathology suspected by clinical observation during a feeding evaluation and may help determine feeding safety in these infants.Retrospective review of 23 VFSS on 10 PWS infants (average age 9.7 ±â€Š8.4 months; range 3 weeks-29 months). Logistic regression models evaluated associations between gender, genetic subtype, and growth hormone (GH) use on aspiration incidence. Polysomnographic (PSG) studies conducted on the same participant ±1 year from VFSS were examined to characterize respiratory abnormalities.There was a high rate of swallowing dysfunction (pharyngeal residue 71%, aspiration events 87%) and disordered sleep. All aspiration events were silent. There were no differences in rates of aspiration for gender, genetic subtype, or GH use.A high incidence of aspiration was identified indicating swallow dysfunction may frequently be present in infants with PWS. Comprehensive evaluation of feeding and swallowing is essential and requires a multidisciplinary approach. Providers should recognize risk factors for swallow dysfunction and consider a multidisciplinary approach to guide decision making and optimize feeding safety in PWS.
[Mh] MeSH terms primary: Deglutition Disorders/physiopathology
Prader-Willi Syndrome/physiopathology
Respiratory Aspiration/diagnostic imaging
Respiratory Aspiration/physiopathology
[Mh] MeSH terms secundary: Child, Preschool
Female
Fluoroscopy
Humans
Infant
Infant, Newborn
Male
Retrospective Studies
Risk Factors
Video Recording
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009256

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[PMID]: 29248130
[Au] Autor:Capoluongo E; Ellison G; López-Guerrero JA; Penault-Llorca F; Ligtenberg MJL; Banerjee S; Singer C; Friedman E; Markiefka B; Schirmacher P; Büttner R; van Asperen CJ; Ray-Coquard I; Endris V; Kamel-Reid S; Percival N; Bryce J; Röthlisberger B; Soong R; de Castro DG
[Ad] Address:Catholic University of the Sacred Heart and A. Gemelli Teaching Hospital Foundation, Rome, Italy.
[Ti] Title:Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
[So] Source:Semin Oncol;44(3):187-197, 2017 06.
[Is] ISSN:1532-8708
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing services are offered to patients with ovarian cancer. Ovarian cancer patients are now being referred for BRCA1/2 genetic testing for treatment decisions, in addition to familial risk estimation, and irrespective of a family history of breast or ovarian cancer. Furthermore, testing of tumor samples to identify the estimated 3%-9% of patients with somatic BRCA1/2 mutations who, in addition to germline carriers, could benefit from PARPi therapy is also now being considered. This new testing paradigm poses some challenges, in particular the technical and analytical difficulties of analyzing chemically challenged DNA derived from formalin-fixed, paraffin-embedded specimens. The current manuscript reviews some of these challenges and technical recommendations to consider when undertaking BRCA1/2 testing in tumor tissue samples to detect both germline and somatic BRCA1/2 mutations. Also provided are considerations for incorporating genetic analysis of ovarian tumor samples into the patient pathway and ethical requirements.
[Mh] MeSH terms primary: BRCA1 Protein/genetics
BRCA2 Protein/genetics
Genetic Testing
Hereditary Breast and Ovarian Cancer Syndrome/diagnosis
Ovarian Neoplasms/genetics
[Mh] MeSH terms secundary: Female
Germ-Line Mutation
Hereditary Breast and Ovarian Cancer Syndrome/genetics
Humans
Ovarian Neoplasms/drug therapy
Phthalazines/therapeutic use
Piperazines/therapeutic use
Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use
Practice Guidelines as Topic
[Pt] Publication type:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (BRCA1 Protein); 0 (BRCA1 protein, human); 0 (BRCA2 Protein); 0 (BRCA2 protein, human); 0 (Phthalazines); 0 (Piperazines); 0 (Poly(ADP-ribose) Polymerase Inhibitors); WOH1JD9AR8 (olaparib)
[Em] Entry month:1712
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[Js] Journal subset:IM
[Da] Date of entry for processing:171218
[St] Status:MEDLINE

  6 / 6164 MEDLINE  
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[PMID]: 29446030
[Au] Autor:Bitsori M; Vergadi E; Galanakis E
[Ad] Address:Department of Paediatrics, Heraklion University Hospital, Crete, Greece.
[Ti] Title:Slow progression of renal failure in a child with infantile cystinosis.
[So] Source:CEN Case Rep;, 2018 Feb 14.
[Is] ISSN:2192-4449
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:Cystinosis is a rare autosomal recessive lysosomal transport disorder, characterized by the accumulation of the aminoacid cystine and progressive dysfunction of several organs. Kidneys are severely affected, and the most frequent form, infantile nephropathic cystinosis, presents with growth failure in infancy, renal Fanconi syndrome and end-stage renal disease by the first decade of life. We report of a girl with infantile nephropathic cystinosis that has reached adolescence without the need of renal replacement therapy and without extrarenal manifestations despite her delayed diagnosis and treatment initiation. The girl with this intermediate phenotype was found to have compound heterozygosity of one known (1015G > A) and one novel (587_588insA) mutation in CTNS gene. Our case points to the wide clinical presentation of infantile nephropathic cystinosis and suggest that long-term outcome is not always ominous as generally thought.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:Publisher
[do] DOI:10.1007/s13730-018-0316-3

  7 / 6164 MEDLINE  
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[PMID]: 29421779
[Au] Autor:Bastug F; Nalcacioglu H; Ozaltin F; Korkmaz E; Yel S
[Ti] Title:Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
[So] Source:Iran J Kidney Dis;12(1):61-63, 2018 Jan.
[Is] ISSN:1735-8604
[Cp] Country of publication:Iran
[La] Language:eng
[Ab] Abstract:Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Data-Review

  8 / 6164 MEDLINE  
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[PMID]: 29377497
[Au] Autor:Xu J; Li X; Cole A; Sherman Z; Du W
[Ad] Address:Institute for Brain Research and Rehabilitation, South China Normal University, Guangzhou, People's Republic of China.
[Ti] Title:Reduced Cell Division Control Protein 42 Activity Compromises Hematopoiesis-Supportive Function of Fanconi Anemia Mesenchymal Stromal Cells.
[So] Source:Stem Cells;, 2018 Jan 27.
[Is] ISSN:1549-4918
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hematopoietic stem cells preserve their ability to self-renew and differentiate to different lineages in the bone marrow (BM) niche, which is composed in large part by BM stromal cells. Studies have shown that altered signaling in the BM niche results in leukemia initiation or progression. Fanconi anemia (FA) is an inherited BM failure syndrome associated with extremely high risk of leukemic transformation. By using two FA mouse models, here we have investigated the hematopoiesis-supportive function of FA BM mesenchymal stroma cells (MSCs). We found that MSCs deficient for Fanca or Fancc gene are defective in proliferation and prone to undergo senescence in vitro. Mechanistically, we show that the activity of cell division control protein 42 (Cdc42), a Rho GTPase known to be a critical regulator for cytoskeleton organization, is significantly reduced in FA MSCs. Furthermore, we demonstrate that this reduction in Cdc42 activity plays a causal role in defective hematopoiesis-supportive function of the FA MSCs. The progenies of wild-type hematopoietic stem and progenitor cells cocultured on FA MSCs exhibit compromised self-renewal capacity both in vitro and in vivo. Genetic correction of FA deficiency restores Cdc42 activity and improves the hematopoiesis-supportive capacity of FA MSC. Finally, ectopic expression of a constitutively active Cdc42 mutant, Cdc42F28L, or pretreatment with Wnt5a, increases the active Cdc42 level and rescues the hematopoietic supportive defects of FA MSCs. Taken together, our results identify a novel link between Cdc42 activity and the hematopoiesis-supportive function of MSCs and suggest that a niche-specific increase of Cdc42 activity may be beneficial for FA therapy. Stem Cells 2018.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:Publisher
[do] DOI:10.1002/stem.2789

  9 / 6164 MEDLINE  
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[PMID]: 29355456
[Au] Autor:Li Y; Li X; Cole A; McLaughlin S; Du W
[Ad] Address:a Institue for Brain Research and Rehabilitation , South China Normal University , Guangzhou , China.
[Ti] Title:Icariin improves Fanconi anemia hematopoietic stem cell function through SIRT6-mediated NF-kappa B inhibition.
[So] Source:Cell Cycle;:1-10, 2018 Feb 08.
[Is] ISSN:1551-4005
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Icariin (ICA) is a flavonoid glucoside derived from the Epimedium plant genus, which has potent regenerative properties and is used in western medicine to treat impotence. Recently, ICA has generated great interest in improving hepatic stellate cell function and cardiac rejuvenation. However, how this natural component functions in hematopoiesis remains unexplored. Here we have examined the role of ICA on hematopoietic stem cells (HSCs) using the cancer-prone disease model of Fanconi anemia (FA), an inherited bone marrow failure syndrome with extremely high risk of leukemic predisposition. We show that ICA reverses the less quiescent status of HSCs deficient for the Fanca or Fancd2 gene, and improves the ability of these mutant stem cells to form colony formation units (CFU) in vitro and reconstitutes hematopoiesis in transplanted recipients. Further analysis reveals that ICA upregulates enzyme activity of the chromatin binding protein SIRT6 in Fanca and Fancd2 HSCs, both of which have an intrinsic low SIRT6 activity. Furthermore, forced expression of SIRT6 blocks the natural decline of quiescent HSCs in Fanca or Fancd2 mice and improves the repopulating capacity of these mutant HSCs in irradiated recipients. Mechanistically, ICA enhances SIRT6-mediated H3K9 deacetylation on the promoter of NF-κB and represses the expression of NF-κB target genes. Together, our findings indicate that ICA improves the function of HSCs by stimulating SIRT6 activity and contributes to the regenerative effect of ICA.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:Publisher
[do] DOI:10.1080/15384101.2018.1426413

  10 / 6164 MEDLINE  
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[PMID]: 29205674
[Au] Autor:Mori A; Watanabe S; Tsuruga K; Joh K; Tanaka H
[Ad] Address:Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
[Ti] Title:Free light chain-associated Fanconi syndrome in an adolescent.
[So] Source:Pediatr Int;59(12):1281-1282, 2017 Dec.
[Is] ISSN:1442-200X
[Cp] Country of publication:Australia
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Process
[do] DOI:10.1111/ped.13430


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