Database : MEDLINE
Search on : Macroglossia [Words]
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[PMID]: 29377879
[Au] Autor:Brioude F; Kalish JM; Mussa A; Foster AC; Bliek J; Ferrero GB; Boonen SE; Cole T; Baker R; Bertoletti M; Cocchi G; Coze C; De Pellegrin M; Hussain K; Ibrahim A; Kilby MD; Krajewska-Walasek M; Kratz CP; Ladusans EJ; Lapunzina P; Le Bouc Y; Maas SM; Macdonald F; Õunap K; Peruzzi L; Rossignol S; Russo S; Shipster C; Skórka A; Tatton-Brown K; Tenorio J; Tortora C; Grønskov K; Netchine I; Hennekam RC; Prawitt D; Tümer Z; Eggermann T; Mackay DJG; Riccio A; Maher ER
[Ad] Address:Sorbonne Université, Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, 26 Avenue du Docteur Arnold Netter, F-75012 Paris, France.
[Ti] Title:Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
[So] Source:Nat Rev Endocrinol;14(4):229-249, 2018 Apr.
[Is] ISSN:1759-5037
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1038/nrendo.2017.166

  2 / 2075 MEDLINE  
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[PMID]: 29485435
[Au] Autor:Derlin T; Hartung D; Hueper K
[Ti] Title:18F-FDG PET/CT for Molecular Imaging of Hepatoblastoma in Beckwith-Wiedemann Syndrome.
[So] Source:Clin Nucl Med;, 2018 Feb 27.
[Is] ISSN:1536-0229
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder variably characterized by macrosomia, macroglossia, congenital hypoglycemia, and hemihyperplasia. The BWS predisposes affected individuals to embryonal tumors during childhood. The BWS is caused by abnormal gene regulation in a particular region of chromosome 11. We present the case of a 1-year-old boy with BWS who underwent an F-FDG PET/CT scan for restaging of hepatoblastoma. On the F-FDG PET scan, increased tracer accumulation was observed in hepatoblastoma lesions. In addition, marked hemihyperplasia was noted. This case highlights the usefulness of F-FDG PET/CT for restaging of hepatoblastoma in BWS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher
[do] DOI:10.1097/RLU.0000000000002040

  3 / 2075 MEDLINE  
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[PMID]: 29476667
[Au] Autor:Alonso-Rodriguez E; Gómez E; Martín M; Muñoz JM; Hernández-Godoy J; Burgueño M
[Ad] Address:Paseo de la Castellana, 261, 28046 Madrid, Spain, Department of Oral and Maxillofacial Surgery, stfania@hotmail.com.
[Ti] Title:Beckwith-Wiedemann Syndrome: Open bite evolution after tongue reduction.
[So] Source:Med Oral Patol Oral Cir Bucal;23(2):e225-e229, 2018 Mar 01.
[Is] ISSN:1698-6946
[Cp] Country of publication:Spain
[La] Language:eng
[Ab] Abstract:BACKGROUND: Macroglossia causes functional deficits such as airway obstruction, drooling, phonation difficulties, and leads to protrusion of dentoalveolar structures resulting in an anterior open bite and a prognathic mandibular appearance. Macroglossia is present in the majority of patients with Beckwith-Wiedemann syndrome (BWS) and surgical treatment may be indicated. MATERIAL AND METHODS: A retrospective review was conducted including BWS patients who underwent surgical tongue reduction between 2000 and 2015 at the Hospital Universitario La Paz, Madrid. RESULTS: Out of 16 patients with BWS, surgery was performed in 11 cases. Tongue protrusion with open bite was the main indication for surgical treatment. Reduction glossectomy was performed using the keyhole technique. We analysed the relationship between age at surgery and evolution of open bite. Complications were minimal and satisfactory outcomes were observed with a decrease in anterior open bite. CONCLUSIONS: In this study we have observed that surgical treatment in patients with BWS and open bite accompanied by macroglossia seems to provide positive results with a satisfactory outcome in dentoskeletal alterations.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Process
[do] DOI:10.4317/medoral.21319

  4 / 2075 MEDLINE  
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[PMID]: 29390268
[Au] Autor:Sun L; Zhang L; Hu W; Li TF; Liu S
[Ad] Address:Department of Rheumatology and Clinical Immunology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
[Ti] Title:Case report: One case of primary AL amyloidosis repeatedly misdiagnosed as scleroderma.
[So] Source:Medicine (Baltimore);96(50):e8771, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Amyloid light chain (AL) results from the deposition of immunoglobulin light chain fragments, and can affect multiple organs/systems. Our patient was diagnosed as scleroderma repeatedly because of extensive skin thickening and hardening, but the treatment was not effective. We did extensive laboratory examinations including serum/urine protein electrophoresis and flow cytometry assay of bone marrow aspiration. CONCLUSION: A diagnosis of primary AL amyloidosis was established.
[Mh] MeSH terms primary: Amyloidosis/diagnosis
Diagnostic Errors
[Mh] MeSH terms secundary: Biopsy
Deglutition Disorders/etiology
Female
Hoarseness/etiology
Humans
Macroglossia/etiology
Middle Aged
Scleroderma, Localized/diagnosis
Skin/pathology
[Pt] Publication type:CASE REPORTS; 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.0000000000008771

  5 / 2075 MEDLINE  
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[PMID]: 29395995
[Au] Autor:Simmonds JC; Patel AK; Mader NS; Scott AR
[Ad] Address:Department of Otolaryngology-Head and Neck Surgery, Tufts Medical Center, Boston, MA, USA. Electronic address: jsimmonds@tuftsmedicalcenter.org.
[Ti] Title:National trends in tongue reduction surgery for macroglossia in children.
[So] Source:J Craniomaxillofac Surg;46(3):498-503, 2018 Mar.
[Is] ISSN:1878-4119
[Cp] Country of publication:Scotland
[La] Language:eng
[Ab] Abstract:OBJECTIVES: To examine the frequency of partial glossectomy performed for the indication of macroglossia in children within the United States, assessing for differences in rates of intervention across various demographics. To identify potential morbidities associated with partial glossectomy in this population and determine how such factors may influence length of stay and cost of admission following tongue reduction surgery. STUDY DESIGN: Retrospective cross-sectional study. SETTING: The Kids' Inpatient Database 2003, 2006, 2009, and 2012. SUBJECTS: Patients under age 5 diagnosed with macroglossia who underwent partial glossectomy. METHODS: Demographics were analyzed and cross tabulations, linear regression modeling, and multivariate analysis were performed. RESULTS: During the four-years studied, partial glossectomy was performed in 196 children under age 5 with macroglossia. A disproportionately higher rate of intervention was seen in white children (p = 0.001), patients undergoing surgery in the mid-west (p < 0.001) and patients in the highest socioeconomic quartile (p = 0.015). Most patients underwent glossectomy in their second year of life. The average length of stay in patients who underwent partial glossectomy for macroglossia was 9.59 days (Range 1-211 days, median 3.45 days) and the average cost was $56,602 (median $16,330). CONCLUSION: Partial glossectomy for macroglossia is typically performed prior to age 2 in the United States. A higher rate of intervention is seen in white children, those who have surgery in the mid-west and affluent children even when controlling for confounding variables. LEVEL OF EVIDENCE: III.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180223
[Lr] Last revision date:180223
[St] Status:In-Process

  6 / 2075 MEDLINE  
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[PMID]: 29390460
[Au] Autor:Martínez M; Romero MG; Guereta LG; Cabrera M; Regojo RM; Albajara L; Couce ML; Pipaon MS
[Ad] Address:Department of Neonatology-Pediatrics.
[Ti] Title:Infantile-onset Pompe disease with neonatal debut: A case report and literature review.
[So] Source:Medicine (Baltimore);96(51):e9186, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. PATIENT CONCERNS: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. The patient was asymptomatic, with a general physical examination revealing only a murmur. The clinical presentation was dominated by the neonatal detection of hypertrophic cardiomyopathy, without hypotonia or macroglossia. DIAGNOSES: Pompe disease was confirmed in the first week of life by GAA activity in dried blood spots, and a GAA genetic study showed the homozygous mutation p.Arg854X. INTERVENTIONS: Parents initially refused replacement therapy. OUTCOMES: The patient experienced recurrent episodes of ventricular fibrillation during central line placement and could not be resuscitated. LESSONS: Although Pompe disease is rare, and universal screening has not been established, neonatologists should be alerted to the diagnosis of Pompe in the presence of hypertrophic cardiomyopathy. Diagnosis is achieved in a few days with the aid of dried blood spots.
[Mh] MeSH terms primary: Cardiomyopathy, Hypertrophic/etiology
Glycogen Storage Disease Type II/diagnosis
Glycogen Storage Disease Type II/genetics
Ventricular Fibrillation/diagnosis
alpha-Glucosidases/genetics
[Mh] MeSH terms secundary: Biopsy, Needle
Cardiomyopathy, Hypertrophic/physiopathology
Cardiomyopathy, Hypertrophic/therapy
Disease Progression
Fatal Outcome
Glycogen Storage Disease Type II/complications
Homozygote
Humans
Immunohistochemistry
Infant, Newborn
Infant, Newborn, Diseases/diagnosis
Infant, Newborn, Diseases/therapy
Male
Mutation
Rare Diseases
Risk Assessment
Severity of Illness Index
Ventricular Fibrillation/etiology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases)
[Em] Entry month:1802
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009186

  7 / 2075 MEDLINE  
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[PMID]: 29262449
[Au] Autor:Ge CX; Tai MZ; Chen T; Li KL; Qin ZP
[Ad] Address:Special Department of Hemangiomas, Linyi Tumor Hospital, Linyi 276001, Shandong Province, China.
[Ti] Title:[Treatment analyses of 143 patients with maxillofacial and cervical venous malformations involved in isthmus faucium area].
[So] Source:Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi;52(12):909-914, 2017 Dec 07.
[Is] ISSN:1673-0860
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:To analyze the clinical data and summarize therapeutic experiences of cervicofacial venous malformations involving isthmus faucium area. Clinical records from 143 patients with venous malformations involving isthmus faucium area treated at our hospital between January 2012 and January 2016 were reviewed. There were 70 males and 73 females. Age ranged from 1 to 52 years old, with a median age of 14.5 years. There were 19 cases with lesions involving in only 1 subanatomic area above and 124 cases with lesions involving in more than 1 subanatomic areas, including 63 cases with lesions involving in more than 2 areas. There were 50 patients presenting with additional maxillofacial and cervical lesions. Clinical symptoms included snoring ( =98), indistinct phonation ( =49), and tonsil hypertrophy more than degree â…¡ ( =19). Tracheotomy was performed in 3 patients prior to hospitalization, contigency tracheotomy during hospitalization in 10 patients, and oral trachea cannula in other patients. All therapeutic procedures, including single chemical ablation with ethanol injection ( =94), single lesion resection ( =9) and both of them ( =40), were performed under general anesthesia. Treatment remedies included mesh suture, macroglossia reduction and excision of maxillofacial and cervical lesions for patients presenting with extensive malformations extending to maxillofacial and cervical area. Tonsil resection were done in patients having tonsil venous malformations or tonsil hypertrophy more than degree II. Achauer's 4-grade criterion was applied to evaluate the treatment outcomes. SPSS 18.0 software was used to analyze the data. Trachea cannula were not extubated untill 24 to 48 hours after treatment. Emergency tracheotomy was done in 2 cases after extubations because of dyspnea, and successful extubations were obtained in other cases. There were no advents of pulmonary vascular spasm or pulmonary embolism. There was significant difference between before and after operation (snore: χ(2)=105.431, ambiguous pronunciation: χ(2)=59.698, tonsil hypertrophy more than degree â…¡: χ(2)=33.530, all <0.01). The patients were followed-up for 1-4 years, and there were 123 cases at grade â…£ (complete disappear of lesions in 62 cases without recurrence), 17 at grade â…¢ , 3 at grade â…¡, and no case at gradeâ… . Chemical ablation with ethanol injection for venous malformations involving isthmus faucium area is recommended, wheras combined remedies including injection, mesh suture, macroglossia reduction, and excision of cervicofacial lesions are suggested in treatment of extensive lesions extending to maxillofacial and cervical area. Tonsil resection should be done in patients having tonsil venous malformations or tonsil hypertrophy more than degree â…¡, which is safe and highly effective, with good reservation of function, in the treatment of maxillofacial and cervical venous malformations involving isthmus faucium area.
[Mh] MeSH terms primary: Ethanol/administration & dosage
Oropharynx/blood supply
Vascular Malformations/therapy
Veins/abnormalities
[Mh] MeSH terms secundary: Adolescent
Adult
Child
Child, Preschool
Combined Modality Therapy/methods
Female
Humans
Hypertrophy/surgery
Infant
Injections
Male
Middle Aged
Neck/blood supply
Palatine Tonsil/blood supply
Palatine Tonsil/pathology
Palatine Tonsil/surgery
Recurrence
Tracheotomy
Treatment Outcome
Vascular Malformations/complications
Vascular Malformations/pathology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:3K9958V90M (Ethanol)
[Em] Entry month:1802
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[Js] Journal subset:IM
[Da] Date of entry for processing:171221
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1673-0860.2017.12.007

  8 / 2075 MEDLINE  
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[PMID]: 29244185
[Au] Autor:Park KS; Mitra A; Rahat B; Kim K; Pfeifer K
[Ad] Address:Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20814, USA.
[Ti] Title:Loss of imprinting mutations define both distinct and overlapping roles for misexpression of IGF2 and of H19 lncRNA.
[So] Source:Nucleic Acids Res;45(22):12766-12779, 2017 Dec 15.
[Is] ISSN:1362-4962
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Imprinted genes occur in discrete clusters that are coordinately regulated by shared DNA elements called Imprinting Control Regions. H19 and Igf2 are linked imprinted genes that play critical roles in development. Loss of imprinting (LOI) at the IGF2/H19 locus on the maternal chromosome is associated with the developmental disorder Beckwith Wiedemann Syndrome (BWS) and with several cancers. Here we use comprehensive genetic and genomic analyses to follow muscle development in a mouse model of BWS to dissect the separate and shared roles for misexpression of Igf2 and H19 in the disease phenotype. We show that LOI results in defects in muscle differentiation and hypertrophy and identify primary downstream targets: Igf2 overexpression results in over-activation of MAPK signaling while loss of H19 lncRNA prevents normal down regulation of p53 activity and therefore results in reduced AKT/mTOR signaling. Moreover, we demonstrate instances where H19 and Igf2 misexpression work separately, cooperatively, and antagonistically to establish the developmental phenotype. This study thus identifies new biochemical roles for the H19 lncRNA and underscores that LOI phenotypes are multigenic so that complex interactions will contribute to disease outcomes.
[Mh] MeSH terms primary: Beckwith-Wiedemann Syndrome/genetics
Genomic Imprinting
Insulin-Like Growth Factor II/genetics
Mutation
RNA, Long Noncoding/genetics
[Mh] MeSH terms secundary: Animals
Beckwith-Wiedemann Syndrome/metabolism
Cell Differentiation/genetics
Cells, Cultured
Disease Models, Animal
Gene Expression Profiling/methods
Humans
Insulin-Like Growth Factor II/metabolism
Mice
Muscle, Skeletal/metabolism
Myoblasts/cytology
Myoblasts/metabolism
RNA, Long Noncoding/metabolism
Signal Transduction/genetics
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (H19 long non-coding RNA); 0 (RNA, Long Noncoding); 67763-97-7 (Insulin-Like Growth Factor II)
[Em] Entry month:1801
[Cu] Class update date: 180115
[Lr] Last revision date:180115
[Js] Journal subset:IM
[Da] Date of entry for processing:171216
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx896

  9 / 2075 MEDLINE  
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[PMID]: 29328013
[Au] Autor:van Lieshout BP; Karagozoglu KH; Schulten EAJM
[Ad] Address:Vrije Universiteit medisch centrum, afd. Mondziekten, Kaak- en Aangezichtschirurgie, Amsterdam.
[Ti] Title:Een vrouw met een pijnlijk vergrote tong. [A woman with a painful and enlarged tongue].
[So] Source:Ned Tijdschr Geneeskd;162(0):D2119, 2018.
[Is] ISSN:1876-8784
[Cp] Country of publication:Netherlands
[La] Language:dut
[Ab] Abstract:A 53-year-old woman presented with painful macroglossia and periorbital papules. Based on this clinical features and biopsies the diagnosis of nodular amyloidosis was established. Further analysis revealed that multiple myeloma was the underlying hematological disorder.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180112
[Lr] Last revision date:180112
[St] Status:In-Data-Review

  10 / 2075 MEDLINE  
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[PMID]: 29327538
[Au] Autor:More AV
[Ad] Address:Assistant Professor, Rajiv Gandhi Medical College, Thane, Maharashtra.
[Ti] Title:Angiotensin-converting Enzyme (ACE) Inhibitor Induced Macroglossia.
[So] Source:J Assoc Physicians India;65(12):108, 2017 Dec.
[Is] ISSN:0004-5772
[Cp] Country of publication:India
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180112
[Lr] Last revision date:180112
[St] Status:In-Data-Review


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