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- Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.Publication . Moreira, M.C.; Barbot, C.; Tachi, N.; Kozuka, N.; Mendonça, P.; Barros, J.; Coutinho, P.; Sequeiros, J.; Koenig, M.Am J Hum Genet. 2001 Feb;68(2):501-8. Epub 2001 Jan 22. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonça P, Barros J, Coutinho P, Sequeiros J, Koenig M. Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université Louis-Pasteur, Illkirch, C.U. de Strasbourg, France. Abstract Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and immunodeficiency. We studied 13 Portuguese families with AOA and found that the two largest families show linkage to 9p, with LOD scores of 4.13 and 3.82, respectively, at a recombination fraction of 0. These and three smaller families, all from northern Portugal, showed homozygosity and haplotype sharing over a 2-cM region on 9p13, demonstrating the existence of both a founding event and linkage to this locus, AOA1, in the five families. Three other families were excluded from this locus, demonstrating nonallelic heterogeneity in AOA. Early-onset cerebellar ataxia with hypoalbuminemia (EOCA-HA), so far described only in Japan, is characterized by marked cerebellar atrophy, peripheral neuropathy, mental retardation, and, occasionally, oculomotor apraxia. Two unrelated Japanese families with EOCA-HA were analyzed and appeared to show linkage to the AOA1 locus. Subsequently, hypoalbuminemia was found in all five Portuguese patients with AOA1 with a long disease duration, suggesting that AOA1 and EOCA-HA correspond to the same entity that accounts for a significant proportion of all recessive ataxias. The narrow localization of AOA1 should prompt the identification of the defective gene. PMID: 11170899 [PubMed - indexed for MEDLINE]PMCID: PMC1235299Free PMC Article Images from this publication.See all images (3) Free text Figure 1Simplified pedigrees of the families with AOA that show linkage to 9p13, and of family AOAP9. Markers are shown, from top to bottom, in their pter-qter order (from GeneMap'99). Haplotypes linked to the disease are boxed, and homozygosity in patients is shaded in gray. Distance (cM) to the previous m...Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic HeterogeneityAm J Hum Genet. 2001 February;68(2):501-508.Figure 2Haplotypes in families AOAP1, -P4, -P5, -P7, -P11, and -P9 and in AOAJ1 and -J2. Homozygous alleles are indicated only once per family. Alleles homozygous by descent are in boldface. The shared haplotypes are boxed and shaded in gray. Alleles that might belong to the founding haplotypes are boxed wi...Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic HeterogeneityAm J Hum Genet. 2001 February;68(2):501-508.Figure 3Geographical distribution, on the Portuguese mainland, of families with AOA. Districts where the survey is already completed are shaded in gray. Family AOAP13 is not represented, because of its African (Cabo Verde) origin. The three families in the Braga region that show linkage to 9p are AOAP4, -P7...Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic HeterogeneityAm J Hum Genet. 2001 February;68(2):501-508.
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Publication . Moreira, M.C.; Klur, S.; Watanabe, M.; Németh, A.H.; Le Ber, I.; Moniz, J.C.; Tranchant, C.; Aubourg, P.; Tazir, M.; Schöls, L.; Pandolfo, M.; Schulz, J.B.; Pouget, J.; Calvas, P.; Shizuka-Ikeda, M.; Shoji, M.; Tanaka, M.; Izatt, L.; Shaw, C.E.; M'Zahem, A.; Dunne, E.; Bomont, P.; Benhassine, T.; Bouslam, N.; Stevanin, G.; Brice, A.; Guimarães, J.; Mendonça, P.; Barbot, C.; Coutinho, P.; Sequeiros, J.; Dürr, A.; Warter, J.M.; Koenig, M.Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M. IGBMC (Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, ULP) 67404 Illkirch, C.U. de Strasbourg, France. Abstract Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. PMID: 14770181 [PubMed - indexed for MEDLINE]
- Conjunctival lymphangioma: a case report and brief review of the literaturePublication . Seca, M.; Borges, P.; Gomes, M.; Meireles, A.Background. Lymphangioma is a rare venolymphatic lesion, characterized by dilation of lymphatic vessels. It may occur as an isolated lesion or, more often, represent the surface component of a deep orbital lymphangioma. Case. We report a case of a conjunctival lymphangioma on a 58-year-old male that had simultaneously an upper respiratory tract infection. Excision and biopsy confirmed the nature of the lesion, and there has been no relapse to date. Conclusion. Conjunctival lymphangioma is a rare condition in which the diagnose, must be kept in mind in patients with a red eye resistance to topical therapy and in association with an upper respiratory tract infection. Finally, it is also necessary to be aware of possible recurrence of the lesion.
- Isolated Bulbar Conjunctival Kaposi's Sarcoma as a Primary Presentation of AIDS: A Case ReportPublication . Maia, S.; Gomes, M.; Oliveira, L.; Torres, P.Kaposi's sarcoma (KS) is a malignant vascular tumor, caused by the human herpesvirus 8. It is one of the commonest tumors in human immunodeficiency virus (HIV) patients and not uncommonly the first manifestation of acquired immunodeficiency syndrome (AIDS). Case. We present a case of an isolated bulbar conjunctival KS on a 43-year-old HIV positive male, with no other lesions. Excision and cryotherapy were performed, and the patient remains free of lesions to date. Conclusion. Isolated bulbar conjunctival KP is an unusual site for its initial presentation and must be kept in mind in HIV positive patients.
- Management of pediatric traumatic macular holes - case reportPublication . Azevedo, S.; Ferreira, N.; Meireles, A.PURPOSE: To report and describe the clinical course of four pediatric traumatic macular hole (TMH) cases and respective management. CASE REPORT: Four pediatric patients with macular hole following blunt ocular trauma underwent early pars plana vitrectomy, with consecutive hole closure. Initial visual acuity was <20/400 or worse in all patients. After surgery, all patients had visual acuity improvement, with final visual acuity being <20/50 in 2 of the patients by the end of the follow-up. Macular hole closure was achieved in all patients with a single procedure, and anatomical success was confirmed by optical coherence tomography until the end of the follow-up. CONCLUSIONS: Although spontaneous closure of TMH is not uncommon, especially in pediatric patients, early pars plana vitrectomy seems to be a safe and effective choice in pediatric TMH management. The risk/benefit ratio of surgery seems to be better than observation.
- Bilateral proliferative retinopathy as the initial presentation of chronic myeloid leukemia.Publication . Macedo, M.; Figueiredo, A.; Ferreira, N.; Barbosa, I.; Furtado, M.; Correia, N.; Gomes, M.; Lume, M.; Menéres, M.; Santos, M.; Meireles, M.The authors report a rare case of a 48-year-old male with chronic myeloid leukemia (CML) who initially presented with a bilateral proliferative retinopathy. The patient complained of recent visual loss and floaters in both eyes (BE). Ophthalmologic evaluation revealed a best corrected visual acuity (BCVA) of 20/50 in the right eye and 20/200 in the left eye (LE). Fundoscopy showed the presence of bilateral peripheral capillary dropout with multiple retinal sea fan neovascularisations, which were confirmed on fluorescein angiography. Full blood count revealed hyperleukocytosis, thrombocytosis, anemia, and hyperuricemia. Bone marrow aspiration and biopsy showed the reciprocal chromosomal translocation t (9;22), diagnostic of CML. The patient was started on hydroxyurea, allopurinol and imatinib mesylate. He received bilateral panretinal laser photocoagulation and a vitrectomy was performed in the LE. The patient has been in complete hematologic, cytogenetic, and major molecular remission while on imatinib and his BCVA is 20/25 in BE.
- Atypical Cogan’s SyndromePublication . Queirós, J.; Maia, S.; Seca, M.; Friande, A.; Araújo, M.; Meireles, A.Background. Cogan's syndrome is a rare clinical entity whose etiopathology is still unknown, and the treatment strategies are not clearly defined. Case. A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. The diagnosis of atypical Cogan's syndrome was established, and the patient was treated with systemic corticosteroids and later on with cyclophosphamide and methotrexate. There were improvement of visual symptoms and stabilisation of left hearing. Conclusion. Cogan's syndrome is a very rare disease with no specific biological tests for the diagnosis. The diagnostic exams are mostly important to exclude other etiologies. The atypical ocular and audiovestibular manifestations make the diagnosis difficult, delaying the institution of appropriate therapy which may result in profound bilateral deafness.
- Terapêutica biológica na Artrite Idiopática Juvenil (AIJ) – experiência do Centro Hospitalar PortoPublication . Nascimento, J.; Zilhão, C.; Sousa, H.; Miranda, V.; Marinho, A.; Vasconcelos, C.; Guedes, M.Introdução: A terapêutica com agentes biológicos contribuiu para a melhoria da qualidade de vida dos doentes com AIJ grave. No entanto, a sua utilização tem potenciais riscos aliada a custo económicos elevados, o que conduziu à elaboração de recomendações (Sociedade Portuguesa Reumatologia), para a seleção e monitorização dos doentes. Objetivo: Avaliar a eficácia e segurança da terapêutica biológica nos doentes com AIJ, seguidos na Unidade Reumatologia Pediátrica do CHP. Material/Métodos: Estudo transversal dos doentes com AIJ que efetuaram biológicos e cujos registos foram inseridos no Reuma.pt, com análise do tipo AIJ, agente(s) biológico(s) administrado(s), efeitos adversos e custos económicos associados. A evolução clínica, analítica e funcional foi avaliada num subgrupo com 36 meses de terapêutica através da escala visual analógica (EVA:0-100), Child Health Assessment Questionnaire (CHAQ:0-3), nº articulações ativas e velocidade de sedimentação. Resultados: De um total de 97 doentes com AIJ, 38,1% (n=37) efetuaram terapêutica biológica. A idade média no início da doença foi de 7,9 ±4,5anos, no diagnóstico 8,6 ±4,8anos e no início do 1º biológico 10,9 ±4,4anos. Os subtipos de AIJ mais frequentes, foram a AIJ poliarticular FR e a AIJ entesite, com 21,6% (n=8), cada tipo. Foi diagnosticada uveíte em 32,4% (n=12), tendo sido, determinante, para o início ou switch do agente biológico em 5 casos. Dos doentes expostos a este tipo de terapêutica, 78,4% (n=29) foram medicados com etanercept; 16,2% (n=6) infliximab; 13,5% (n=5) adalimumab; 13,5% (n=5) tocilizumab e 2,7%(n=1) anakinra, com média de exposição de 3 ±2,6 anos (mín:0,1/máx:12). Ocorreram 8 eventos adversos não graves e 2 doentes suspenderam temporariamente a terapêutica. O custo económico mensal estimado, por doente, para cada biológico é: 464€ - etanercept; 448€ - infliximab; 994€ - adalimumab; 335€ - tocilizumab; 870€ - anakinra. No início da terapêutica biológica, o valor médio de EVA era 55,1 ±19,3; o CHAQ 1,1 ±0,6; o número médio de articulações ativas era 5,3 ±2,6 e o valor médio de VS 36,8 ±23,3mm/h. Aos 36 meses de terapêutica biológica, o valor médio de EVA era 17,5 ±20,1; o CHAQ 0,3 ±0,4; o número médio de articulações ativas era 1,8 ±3,8 e o valor médio de VS 15,8 ±15,7mm/h. Conclusão: Os critérios da SPR para a administração de terapêutica biológica são adequados na seleção e monitorização destes doentes. Nesta amostra, a terapêutica demonstrou ser eficaz e segura. Apesar dos custos elevados inerentes, a sua introdução precoce teve um impacto fundamental na melhoria da qualidade de vida e redução da morbilidade associada à doença.
- Aqueous humor erythropoietin levels in open-angle glaucoma patients with and without TTR V30M familial amyloid polyneuropathyPublication . Beirão, João; Moreira, L.; Oliveira, J.; Menéres, M.; Pessoa, Bernardete; Matos, M.; Costa, P.; Torres, P.; Beirão, I.Purpose: Glaucoma is the leading cause of irreversible blindness in familial amyloidotic polyneuropathy (FAP) patients. Erythropoietin (EPO) is a cytokine that has been shown to play a role in neuroprotection and is endogenously produced in the eye. EPO levels in the aqueous humor are increased in eyes with glaucoma. In this study, we evaluated the EPO concentration in the aqueous humor of FAP and non-FAP patients, with and without glaucoma. Methods: Undiluted aqueous humor samples were obtained from 42 eyes that underwent glaucoma surgery, phacoemulsification, or vitrectomy. EPO concentration in the aqueous humor and blood were measured using the Immulite 2000 Xpi using an automatic analyzer (Siemens Healthcare Diagnostics). Results: The mean EPO concentration in the aqueous humor of non-FAP glaucoma eyes group 2 (75.73±13.25 mU/ml) was significantly higher than non-FAP cataract eyes (17.22±5.33 mU/ml; p<0.001), FAP glaucoma eyes (18.82±10.16 mU/ml; p<0.001), and FAP nonglaucoma eyes (20.62±6.22 mU/ml; p<0.001). There was no statistically significant difference between FAP nonglaucoma eyes versus non-FAP cataract eyes (p = 0.23) and FAP glaucoma eyes versus FAP nonglaucoma eyes (p = 0.29). In the glaucoma groups, there was no correlation between the aqueous humor EPO concentration and the ocular pressure (p = 0.95) and mean deviation (p = 0.41). There was no correlation between the EPO serum concentration and EPO aqueous humor concentration in our patients (p = 0.77). Conclusions: Unlike other glaucomatous patients, FAP patients with glaucoma do not show increased and potentially neuroprotective endocular EPO production in the aqueous humor and may need more aggressive glaucoma management.
- Photodynamic therapy for diffuse choroidal hemangioma in sturge-weber syndromePublication . Monteiro, S.; Casal, I.; Santos, M.; Meireles, A.Purpose. To report the treatment outcome of photodynamic therapy with verteporfin (PDT) for exudative retinal detachment (RD) associated with diffuse choroidal hemangioma in Sturge-Weber syndrome (SWS). Methods. An interventional case report of a 10-year-old girl with SWS who developed an exudative RD (visual acuity hand motions) that was treated with PDT. She was treated with a first session of multispot PDT. Posteriorly, a choroidotomy for drainage of subretinal fluid was created, combined with an intravitreal injection of gas (SF6) and cryoapplication. Finally, a second session of PDT was applied. Results. Subretinal fluid resolved over a period of one year and visual acuity increased to 20/125. Conclusions. PDT is an effective therapeutic option for exudative RD associated with diffuse choroidal hemangioma.