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[PMID]: 27502995
[Au] Autor:Fernández-Barriales M; Vázquez Marcos V; Álvarez A; Odriozola B; Alonso J; Egea Santaolalla C
[Ad] Address:Oral and Maxillofacial Surgery Department and Sleep Disorders Department, Araba University Hospital, Vitoria-Gasteiz, Spain. Electronic address: marcosfbarriales@gmail.com.
[Ti] Title:A 51-Year-Old Woman With Hypoacusia and Increased Respiratory Effort in the Supine Position and OSA.
[So] Source:Chest;150(2):e59-64, 2016 Aug.
[Is] ISSN:1931-3543
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A 51-year-old woman with a personal history of vitiligo, normal thyroid hormone studies, a simple hysterectomy for multiple uterine myomas at age 35 years, and childhood adenotonsillectomy was seen for progressive hearing loss. She reported mild asthenia, cold intolerance, mild dysphagia with frequent choking while eating and drinking, and a progressive increase in inspiratory effort, especially in the supine position. Her partner described a progressively worsening history of snoring and witnessed apneic episodes, mostly in the supine position. Mild to moderate daytime sleepiness was also present.
[Mh] MeSH terms primary: Goiter, Nodular/complications
Hyperthyroidism/etiology
Lingual Thyroid/complications
Sleep Apnea, Obstructive/etiology
[Mh] MeSH terms secundary: Antithyroid Agents/therapeutic use
Female
Goiter, Nodular/diagnostic imaging
Goiter, Nodular/surgery
Hearing Loss/etiology
Humans
Hyperthyroidism/diagnosis
Hyperthyroidism/drug therapy
Lingual Thyroid/diagnostic imaging
Lingual Thyroid/surgery
Magnetic Resonance Imaging
Methimazole/therapeutic use
Middle Aged
Radionuclide Imaging
Radiopharmaceuticals
Sleep Apnea, Obstructive/surgery
Sodium Pertechnetate Tc 99m
Supine Position
Tomography, X-Ray Computed
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; VIDEO-AUDIO MEDIA
[Nm] Name of substance:0 (Antithyroid Agents); 0 (Radiopharmaceuticals); 554Z48XN5E (Methimazole); A0730CX801 (Sodium Pertechnetate Tc 99m)
[Em] Entry month:1705
[Cu] Class update date: 170524
[Lr] Last revision date:170524
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:160810
[St] Status:MEDLINE

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[PMID]: 27509681
[Au] Autor:Wemeau JL; Vincent C; Dubrulle F; Ladsous M
[Ti] Title:Syndromes de Pendred et surdités apparentées une même entité? [Pendred syndrome and nonsyndromic related deafness: a same entity?].
[So] Source:Bull Acad Natl Med;199(4-5):601-15; discussion 615-6, 2015 Apr-May.
[Is] ISSN:0001-4079
[Cp] Country of publication:Netherlands
[La] Language:fre
[Ab] Abstract:Pendred syndrome is an autosomal recessive familial disorder, defined as a sensorineural deafness coinciding with a goiter related to an iodine organification defect. It constitutes 4 to 10 % of all causes of familial congenital hearing loss. It is now well established that this condition was caused by mutations in the SLC26A4 gene which codes for pendrin, a protein involved in the transport of anions (I-, Cl, HCO3-), particularly in apical iodine efflux in thyroid cells and chloride (Cl-|HCO3-) at the cochlear level. A current issue is to determine factors that distinguish Pendred syndrome from other varieties of isolated deafness also including enlargement of the vestibular aqueduct, but without evidence of thyroid expression. A prospective investigation of these 2 situations, conducted in Lille, leads us to redefine diagnostic criteria and assessment methods, and to discuss genetic or environmental factors contributing to the phenotypes.
[Mh] MeSH terms primary: Deafness/diagnosis
Goiter, Nodular/diagnosis
Hearing Loss, Sensorineural/diagnosis
[Mh] MeSH terms secundary: Adolescent
Adult
Child
Child, Preschool
DNA Mutational Analysis
Deafness/genetics
Diagnosis, Differential
Female
Goiter, Nodular/genetics
Hearing Loss, Sensorineural/genetics
Humans
Male
Middle Aged
Thyroid Gland/pathology
Vestibular Aqueduct/pathology
Young Adult
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1609
[Cu] Class update date: 160811
[Lr] Last revision date:160811
[Js] Journal subset:IM
[Da] Date of entry for processing:160812
[St] Status:MEDLINE

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[PMID]: 26581587
[Au] Autor:Gu T; Jiang B; Wang N; Xia F; Wang L; Gu A; Xu F; Han Y; Li Q; Lu Y
[Ad] Address:Institute and Department of Endocrinology and Metabolism, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, 200011, China.
[Ti] Title:New insight into ectopic thyroid glands between the neck and maxillofacial region from a 42-case study.
[So] Source:BMC Endocr Disord;15:70, 2015 Nov 18.
[Is] ISSN:1472-6823
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Ectopic thyroid is a rare disease. In the present study at the 9th People's Hospital in Shanghai, China, 42 patients' ectopic thyroid glands between the neck and maxillofacial region were subjected to a retrospective and transverse study based on data from 1978 to 2012 to explore the natural characteristics of ectopic thyroid. METHODS: The patients' clinical data were collected. In addition, scintigraphy (Tc-99 m, Iodine-131), CT scan, histology and pathology were performed. The protein expression of thyroid transcription factor-1 (TTF-1), thyroglobulin (TG), calcitonin (CT), Ki-67 and parathyroid hormone (PTH) were analyzed from paraffin wax-stored specimens of ectopic thyroid tissue compared with those of orthotopic thyroid tissue. RESULTS: There were 42 total ectopic thyroid patients, approximately 1.24 patients per year on average at our hospital. These patients were aged from 6 to 85 years old, and there were 35 females (83.3 %), seven males (16.7 %). In total, 27 of the patients had lingual thyroid (64 %); seven, sublingual thyroid (17 %); five, dual areas occupied by ectopic thyroid (12 %) and three, other types (7 %). The following conditions were also presented: nodular goiter (13 %), adenoma (8.7 %) and Hashimoto's thyroiditis (4.3 %), no malignancy and no accompanying ectopic parathyroid. TTF-1 expression was significantly higher in ectopic samples than that in orthotopic samples (P = 0.007), but CT and Ki-67 levels displayed no difference. PTH was negative in ectopic tissue. CONCLUSION: Ectopic thyroid is a rare disease and females were more prone to the disease. The most frequent location was lingual thyroid. Nodular goiter, adenoma and Hashimoto's thyroiditis was observed as orthotopic thyroid without accompanying ectopic parathyroid. TTF-1 was highly expressed in ectopic tissue, which may be related to abnormal embryogenesis leading to the thyroid gland being in an abnormal position. The expression of calcitonin (CT) and Ki-67 was not increased, and there were no malignant cells in any sample, which could indicate that it is not easy for ectopic thyroids to become malignant between the neck and maxillofacial region.
[Mh] MeSH terms primary: Biomarkers/metabolism
Neck/pathology
Pathology, Oral
Thyroid Diseases/pathology
Thyroid Dysgenesis/pathology
[Mh] MeSH terms secundary: Adolescent
Adult
Aged
Aged, 80 and over
Child
Female
Follow-Up Studies
Humans
Iodine Radioisotopes/metabolism
Male
Middle Aged
Prognosis
Radiopharmaceuticals/metabolism
Retrospective Studies
Thyroid Diseases/metabolism
Thyroid Dysgenesis/metabolism
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Biomarkers); 0 (Iodine Radioisotopes); 0 (Radiopharmaceuticals)
[Em] Entry month:1608
[Cu] Class update date: 151123
[Lr] Last revision date:151123
[Js] Journal subset:IM
[Da] Date of entry for processing:151120
[St] Status:MEDLINE
[do] DOI:10.1186/s12902-015-0066-6

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[PMID]: 25223473
[Au] Autor:Park MK; Sagong B; Lee JD; Bae SH; Lee B; Choi KS; Choo YS; Lee KY; Kim UK
[Ad] Address:Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Seoul National University, Seoul, South Korea.
[Ti] Title:A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome.
[So] Source:Int J Pediatr Otorhinolaryngol;78(11):1996-9, 2014 Nov.
[Is] ISSN:1872-8464
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:Hearing loss (HL) is genetically heterogeneous and can be caused by mutations in multiple gene lesions. Pendred syndrome, caused by mutation of SLC26A4, is one of the common causes of recessive syndromic profound HL. Mitochondrial mutation is another rare cause of genetic HL, resulting in late onset sensorineural HL. Recently, we evaluated a young woman representing bilateral progressive moderate HL with delayed language development, along with her family. Hearing test, temporal bone computed tomography, and genetic evaluation of GJB2, MT-RNR1, SLC26A4 gene mutations were performed on each family member. Her mother was prelingually deaf and displayed enlarged vestibular aqueduct (EVA) along with goiter. Interestingly, subject's mother showed both SLC26A4 mutation and mitochondrial A1555G heteroplasmic mutation at the same time. The sisters did not display EVA or goiter. Although the subject's older sister showed both prelingual deafness and mitochondrial A1555G heteroplasmy, her younger sister showed only A1555G homoplasmy, which suggests A1555G homoplasmy as the genetic cause of hearing loss. This is the first report of HL caused by mitochondrial A1555G homoplasmy from a mother with Pendred syndrome coexistent with A1555G heteroplasmy in the Korean population.
[Mh] MeSH terms primary: DNA, Mitochondrial/genetics
Goiter, Nodular/genetics
Hearing Loss, Sensorineural/genetics
Mutation
[Mh] MeSH terms secundary: Adult
Connexins
Deafness/genetics
Female
Hearing Loss/genetics
Humans
Pedigree
Radiography
Temporal Bone/diagnostic imaging
Vestibular Aqueduct/abnormalities
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Connexins); 0 (DFNA3 protein, human); 0 (DNA, Mitochondrial)
[Em] Entry month:1512
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[Js] Journal subset:IM
[Da] Date of entry for processing:140917
[St] Status:MEDLINE

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[PMID]: 24484950
[Au] Autor:Zatonski T; Bolanowski M; Jedrzejuk D; Zatonska K; Krecicki T
[Ad] Address:Department of Otolaryngology, Head & Neck Surgery, Medical University in Wroclaw, Head: Tomasz Krecicki, Poland. Electronic address: tzatonski@gmail.com.
[Ti] Title:Intralaryngeal ectopic thyroid.
[So] Source:Otolaryngol Pol;68(1):46-9, 2014 Jan-Feb.
[Is] ISSN:2300-8423
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:Lingual thyroid is the most common presentation of ectopic thyroid tissue. In contrast, to that laryngeal location is extremely rare. We report a case of 59 years old woman with a history of progressive dyspnea and nodular thyroid goiter. Endoscopic examination revealed subglottic smooth tumor of the right side of the larynx. CT scans revealed mass localized in infraglottic part of the larynx, causing infraglottic stenosis. The biopsy of the tumor revealed: Struma nodosa. Reviewing the literature we found only seven cases described. We present development of the thyroid gland and origins causing ectopy.
[Mh] MeSH terms primary: Laryngeal Neoplasms/diagnosis
Laryngeal Neoplasms/surgery
Lingual Thyroid/diagnosis
Lingual Thyroid/surgery
Thyroid Dysgenesis/diagnosis
Thyroid Dysgenesis/surgery
[Mh] MeSH terms secundary: Female
Humans
Larynx/diagnostic imaging
Middle Aged
Tomography, X-Ray Computed
Treatment Outcome
Ultrasonography
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1511
[Cu] Class update date: 161125
[Lr] Last revision date:161125
[Js] Journal subset:IM
[Da] Date of entry for processing:140204
[St] Status:MEDLINE

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[PMID]: 24227901
[Au] Autor:Pellini R; Mercante G; Ruscito P; Cristalli G; Spriano G
[Ad] Address:Department of Otolaryngology, Head and Neck Surgery, "Regina Elena" National Cancer Institute, Rome, Italy.
[Ti] Title:Ectopic lingual goiter treated by transoral robotic surgery.
[So] Source:Acta Otorhinolaryngol Ital;33(5):343-6, 2013 Oct.
[Is] ISSN:1827-675X
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract:Multinodular goiter in lingual thyroid is quite rare. Surgical removal is indicated in symptomatic patients and when cancer is suspected. An external approach is most often used, but is associated with morbidity and sequelae. In this study, we present for the first time the technique of transoral robotic surgery (TORS) for removal of a massive lingual goiter. Prospective patient data were collected, including demographics, medical history, symptoms, comorbidities and drugs prescribed. The da Vinci Surgical System was used for a transoral approach to the oropharynx. The technique was validated in a 31-year-old woman with signs and symptoms of multinodular goiter presenting since childhood. The procedure required 115 min, with intervals as follows: tracheotomy, 25 min; robot setting time, 20 min; and console time, 70 min. TOR S is feasible in cases of multinodular goiter in a lingual thyroid. The procedure appears to be safe, with quick recovery of swallowing and speech.
[Mh] MeSH terms primary: Lingual Goiter/surgery
Robotic Surgical Procedures
[Mh] MeSH terms secundary: Adult
Female
Humans
Mouth
Robotic Surgical Procedures/methods
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1502
[Cu] Class update date: 150422
[Lr] Last revision date:150422
[Js] Journal subset:IM
[Da] Date of entry for processing:131115
[St] Status:MEDLINE

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[PMID]: 24137585
[Au] Autor:Qiu ZL; Xue YL; Shen CT; Zhu RS; Luo QY
[Ad] Address:Department of Nuclear Medicine, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University, 600 Yishan Road, Shanghai, 200233, P.R. China. lqyn@sh163.net.
[Ti] Title:Graves' disease in an adolescent with dual congenital ectopia and no orthotopic thyroid gland identified by Tc-99m-pertechnetate SPET/CT imaging.
[So] Source:Hell J Nucl Med;16(3):237-9, 2013 Sep-Dec.
[Is] ISSN:1790-5427
[Cp] Country of publication:Greece
[La] Language:eng
[Ab] Abstract:This is the first case of Graves' disease in an adolescent with lingual and prelaryngeal dual congenital ectopia and no orthotopic thyroid gland identified by technetium-99m-pertechnetate (99mTcO-4) SPET/CT imaging in a 15 years old boy. After 8 weeks treatment with methimazole, Graves' disease subsided. Fine needle aspiration cytology of the mass revealed the normal colloid and normal follicular cells without an atypia or lymphoid elements, suggesting a benign ectopic thyroid gland. In conclusion, there is no report in the literature with DETT lingual and prelaryngeal absence of orthotopic thyroid tissue and Graves' disease as in our case. This case also highlights the potential ascendancy of 99mTcO-4 SPET/CT in diagnosing the DETT.
[Mh] MeSH terms primary: Abnormalities, Multiple/diagnostic imaging
Graves Disease/diagnosis
Laryngeal Diseases/diagnosis
Thyroid Gland
Tomography, Emission-Computed, Single-Photon/methods
Tomography, X-Ray Computed/methods
Tongue Diseases/diagnosis
[Mh] MeSH terms secundary: Adolescent
Choristoma
Diagnosis, Differential
Humans
Male
Multimodal Imaging/methods
Radiopharmaceuticals
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Radiopharmaceuticals)
[Em] Entry month:1404
[Cu] Class update date: 161128
[Lr] Last revision date:161128
[Js] Journal subset:IM
[Da] Date of entry for processing:131019
[St] Status:MEDLINE
[do] DOI:10.1967/s002449910099

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[PMID]: 23966462
[Au] Autor:Mariani M; Palpacelli A; Mussoni A; Rossodivita AN
[Ad] Address:Department of Paediatrics, Catholic University, Rome, Italy.
[Ti] Title:Hashimoto's thyroiditis: an accidental discovery of a lingual thyroid in a 7-year-old child.
[So] Source:BMJ Case Rep;2013, 2013 Aug 21.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:An ectopic thyroid located at the base of the tongue is a rare entity, resulting from early developmental defects of thyroid gland embryogenesis during its descent from the foramen caecum to its normal eutopic pretracheal site. This condition is the main cause of congenital primary hypothyroidism, even though signs and symptoms of thyroid dysfunction may also appear later in childhood. Lingual thyroid may sometimes present with symptoms of respiratory obstruction or feeding difficulties. We illustrate the case of a 7-year-old girl with subclinical hypothyroidism due to Hashimoto's thyroiditis arising in a lingual thyroid. She had never suffered from upper airway obstructive symptoms, but did refer a 3-month history of cough. Rapid normalisation of thyroid-stimulating hormone levels and termination of the cough were attained when the L-thyroxine treatment started. After 6 months a significant reduction of lingual thyroid size was also noted. The diagnostic procedures and therapeutic options in childhood are discussed.
[Mh] MeSH terms primary: Asymptomatic Diseases
Hashimoto Disease/complications
Hypothyroidism/complications
Lingual Thyroid/diagnosis
[Mh] MeSH terms secundary: Child
Female
Humans
Incidental Findings
Lingual Goiter/diagnosis
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1403
[Cu] Class update date: 170220
[Lr] Last revision date:170220
[Js] Journal subset:IM
[Da] Date of entry for processing:130823
[St] Status:MEDLINE

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[PMID]: 22450542
[Au] Autor:Chung J; Cushing SL; James AL; Gordon KA; Papsin BC
[Ad] Address:Department of Otolaryngology­Head and Neck Surgery, University of Toronto, Toronto, Ontario, Canada. janchung@gmail.com
[Ti] Title:Congenital cholesteatoma and cochlear implantation: Implications for management.
[So] Source:Cochlear Implants Int;14(1):32-5, 2013 Jan.
[Is] ISSN:1754-7628
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Cholesteatoma is an uncommon condition that has occasionally been associated with cochlear implantation (CI). Cases of secondary acquired cholesteatoma have been described, in which intra-operative breech of the posterior canal wall is thought to be a contributing factor. Primary acquired cholesteatoma is not typically associated with congenital sensorineural hearing loss (SNHL) or CI in children. Congenital cholesteatoma is a rarer entity yet with an incidence in the literature of 2­4% of all cholesteatomas. We present lessons learned from our experience of congenital cholesteatoma in CI candidates. METHODS: Retrospective reviews of departmental CI and cholesteatoma databases in a tertiary/quaternary pediatric center were conducted. Cases of congenital cholesteatoma were identified. The proportion of congenital cholesteatoma cases in CI candidates was compared with number of acquired cholesteatoma. Optimum management of congenital cholesteatoma in CI candidates was reviewed. RESULTS: In our pediatric CI population, 2/794 patients (0.25%) were recognized as having a congenital cholesteatoma during their evaluation for CI. No cases of primary acquired cholesteatoma were identified in this population at presentation or at follow up to 18 years. DISCUSSION: The 0.25% incidence of congenital cholesteatoma in our population of CI patients is higher than expected of this rare condition. It is surprisingly common given the absence of any cases of primary acquired cholesteatoma, which is considerably more common even in the pediatric population. Both patients likely had an inherited form of hearing loss and a genetic contribution to the presence of congenital cholesteatoma cannot be excluded. The presence of congenital cholesteatoma has implications for the algorithm currently employed for the assessment of CI. We consider that surgery should be staged to ensure complete removal of the cholesteatoma before implantation. Thus bilateral CI should be provided sequentially rather than simultaneously in the presence of unilateral cholesteatoma.
[Mh] MeSH terms primary: Cholesteatoma/genetics
Cochlear Implantation
Deafness/genetics
Deafness/rehabilitation
[Mh] MeSH terms secundary: Anion Transport Proteins/genetics
Child, Preschool
Cholesteatoma/diagnostic imaging
Cholesteatoma/epidemiology
Cholesteatoma/rehabilitation
Comorbidity
Cross-Sectional Studies
DNA Mutational Analysis
Deafness/diagnostic imaging
Deafness/epidemiology
Ear, Inner/abnormalities
Ear, Middle/abnormalities
Follow-Up Studies
Genetic Testing
Goiter, Nodular/diagnostic imaging
Goiter, Nodular/epidemiology
Goiter, Nodular/genetics
Goiter, Nodular/rehabilitation
Hearing Loss, Sensorineural/diagnostic imaging
Hearing Loss, Sensorineural/epidemiology
Hearing Loss, Sensorineural/genetics
Hearing Loss, Sensorineural/rehabilitation
Humans
Incidental Findings
Male
Multidetector Computed Tomography
Retrospective Studies
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Anion Transport Proteins); 0 (SLC26A1 protein, human)
[Em] Entry month:1309
[Cu] Class update date: 161125
[Lr] Last revision date:161125
[Js] Journal subset:IM
[Da] Date of entry for processing:120328
[St] Status:MEDLINE

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[PMID]: 22001633
[Au] Autor:Hze-Khoong EP; Xu L; Shen S; Yin X; Wang L; Zhang C
[Ad] Address:Oral and Maxillofacial Department, Khoo Teck Puat Hospital, Singapore, PR China.
[Ti] Title:Ectopic lingual thyroid with a multinodular goiter.
[So] Source:Surgery;153(2):294-6, 2013 Feb.
[Is] ISSN:1532-7361
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Lingual Goiter/diagnostic imaging
Lingual Goiter/surgery
Thyroid Dysgenesis/diagnostic imaging
Thyroid Dysgenesis/surgery
[Mh] MeSH terms secundary: Hormone Replacement Therapy
Humans
Male
Middle Aged
Otorhinolaryngologic Surgical Procedures
Thyroid Hormones/administration & dosage
Tomography, X-Ray Computed
Treatment Outcome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Thyroid Hormones)
[Em] Entry month:1304
[Cu] Class update date: 161125
[Lr] Last revision date:161125
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:111018
[St] Status:MEDLINE


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