RESUMO
Este artículo consta de imágenes solamente(AU)
Assuntos
Humanos , Feminino , Pneumonia Aspirativa/complicações , Distrofia Muscular Oculofaríngea/complicações , DesnutriçãoRESUMO
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal-recessive disorder which is due to mutations in TYMP. The case reported here is of an 18-year-old male with MNGIE syndrome who presented for two different operations on two different occasions under regional anesthesia. The patient presented with urinary incontinence and abdominal pain. A cystoscopy under spinal anesthesia was scheduled. At 3 months after discharge, gastric perforation was diagnosed and combined spinal-epidural anesthesia, surgical repair was planned. Surgical and perioperative periods were uneventful. Based on this experience, we believe that regional anesthesia can be considered safe for use in patients with MNGIE disease.
Assuntos
Anestesia por Condução , Pseudo-Obstrução Intestinal , Encefalomiopatias Mitocondriais , Distrofia Muscular Oculofaríngea , Adolescente , Humanos , Masculino , Encefalomiopatias Mitocondriais/complicações , Timidina FosforilaseRESUMO
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5' region of the polyadenylate RNA binding protein 1 (PABPN1) gene. The frequency of a particular (GCN) expansion in a given population of patients with OPMD is largely influenced by the occurrence of founder mutations. Analysis of large groups of patients with OPMD from different ethnic origins will help to estimate the relative contribution of each expanded allele to the disease. The purpose of this study was to characterize the type of PABPN1 expanded alleles in a large cohort of OPMD individuals from Mexico. Molecular analysis procedures included genomic DNA extraction from blood leukocytes in each patient followed by PCR amplification of PABPN1 exon 1, and direct nucleotide sequencing of PCR products. A total of 102 patients with OPMD were included in the study. Expanded PABPN1 gene alleles were demonstrated in all patients: 65% (66 out of 102) had a (GCN)15 expansion while the remaining 35% (36 out of 102) exhibited a (GCN)13 expansion. This is one of the largest series of molecularly confirmed patients with OPMD in a non-Caucasian population. Ethnic-specific differences in the prevalence of specific PABPN1 expansions must be considered for genetic screening of patients with OPMD.
Assuntos
Distrofia Muscular Oculofaríngea/genética , Proteína I de Ligação a Poli(A)/genética , Expansão das Repetições de Trinucleotídeos/genética , Sequência de Bases , Estudos de Coortes , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Mutação , Análise de Sequência de DNARESUMO
Antecedentes: La Distrofia Muscular Oculofaríngea es un trastorno hereditario de rara ocurrencia. Este síndrome se caracteriza fundamentalmente por ptosis palpebral progresiva, disfagia y debilidad proximal de las extremidades. Casos Clínicos: Se presenta una familia en la cual se encontraron dos casos afectados, en la confección del árbol genealógico se encontró consanguineidad entre los padres apoyando la existencia de un posible patrón hereditario para esta alteración. Conclusión: El conocimiento de esta entidad es fundamental para sospecharla, por lo infrecuente de esta condición y las pocas publicaciones en la literatura latinoamericana de estos casos se presenta la siguiente revisión...(AU)
Assuntos
Humanos , Masculino , Feminino , Adulto , Blefaroptose , Serviços de Saúde Ocular , Distrofia Muscular Oculofaríngea , Oftalmoplegia Externa Progressiva CrônicaRESUMO
RESUMO Relato de caso de distrofia muscular oculofaríngea, doença genética de herança autossômica dominante e uma das causas de ptose miogênica adquirida. A paciente apresentou quadro de ptose palpebral bilateral e disfagia, achados clínicos típicos da doença, foi submetida a tratamento cirúrgico da ptose, com bom resultado estético e funcional.
ABSTRACT The authors report a case of oculopharyngeal muscular dystrophy, an autosomal dominant genetic disease, which leads to miogenic ptosis. This patient presented bilateral palpebral ptosis and dysphagia and underwent ptosis surgical treatment, with a good functional and aesthetic result.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Blefaroptose/cirurgia , Blefaroptose/etiologia , Transtornos da Motilidade Ocular/cirurgia , Transtornos da Motilidade Ocular/etiologia , Blefaroplastia/métodos , Distrofia Muscular Oculofaríngea/complicações , Blefaroptose/diagnóstico , Transtornos de Deglutição , Transtornos da Motilidade Ocular/diagnóstico , Distrofia Muscular Oculofaríngea/diagnóstico , Pálpebras/cirurgia , Pálpebras/patologia , Músculos Oculomotores/cirurgia , Músculos Oculomotores/patologiaRESUMO
Patient registries remove barriers to performing research by assembling patient cohorts and data in a systematic, efficient, and proactive manner. Consequently, registries are a valuable strategy for facilitating research and scientific discovery. Registries for rare diseases are arguably even more valuable since there is difficulty in assembling cohorts of adequate size for study. Recently, the NIH Office of Rare Diseases Research created a rare disease registry Standard to facilitate research across multiple registries. We implemented the Standard for the Oculopharyngeal Muscular Dystrophy patient registry created at the University of New Mexico Health Sciences Center. We performed a data element analysis for each Common Data Element defined in the Standard. Problems included the use of previous HL7 versions, non-structured data types, and a recent update to the Standard. Overall, the Standard is an excellent first step toward standardizing patient registries to facilitate work on broader questions and promote novel interdisciplinary collaborations.
Assuntos
Distrofia Muscular Oculofaríngea , Doenças Raras , Sistema de Registros/normas , Pesquisa Biomédica/estatística & dados numéricos , Nível Sete de Saúde , Humanos , Disseminação de Informação/métodos , National Institutes of Health (U.S.) , New Mexico , Estados Unidos , Vocabulário ControladoRESUMO
O objetivo deste estudo foi analisar a infl uência dafi sioterapia respiratória através das respostas do Peak Flow e oManovacuômetro antes e depois de um período de quatro anos defi sioterapia respiratória na Clínica Escola de Fisioterapia do UNIFAEem uma paciente com distrofi a muscular oculofaríngea (DMO),atendida na Clínica Escola de Fisioterapia do Centro Universitáriodas Faculdades Associadas de Ensino (UNIFAE). Métodos: Foirealizado um estudo de caso com análise de prontuário da pacientedo sexo feminino, 57 anos, fumante, com diagnóstico de DMO.Resultados: Após tratamento, foram observados aumentos signifi cativosentre o valor inicial e fi nal dos resultados obtidos no Peak Flowe Manovacuômetro, mostrando uma redução de obstrução das viasaéreas e um aumento na força da musculatura inspiratória mesmosendo uma doença de caráter progressivo. Conclusão: Os resultadosdeste estudo mostram que a paciente com DMO, após tratamentode fi sioterapia respiratória, obteve melhora da capacidade respiratóriae física pela maior resistência à fadiga, em consequência do aumentoda força da musculatura inspiratória observado nos valores obtidosatravés do manovacuômetro e com menor grau de obstrução dasvias aéreas de acordo com os valores obtidos através do Peak Flow...
The aim of this study was to analyze the infl uenceof respiratory therapy through Peak Flow and the Manovacuometerresponses in a female patient with Oculopharyngeal Muscular Dystrophy(OPMD) before and after four years of respiratory therapyin the School of Physical Th erapy Clinic of Centro Universitáriodas Faculdades Associadas de Ensino (UNIFAE). Methods: We conducteda case study with analysis of records of a female patient, 57years, smoker, diagnosed with OPMD. Results: Although OPMDis a progressive disease, we observed signifi cant increases betweenbaseline and fi nal results on Peak Flow and Manovacuometer, showinga reduction of airway obstruction and an increase in musclestrength. Conclusion: Th e results of this study show that the patientwith OPMD, after respiratory therapy treatment, improved physicaland breathing capacity due to more resistance to fatigue as aresult of an increase in inspiratory muscle strength observed in themanometer values and a lower level of airway obstruction accordingto the peak fl ow values...
Assuntos
Humanos , Distrofias Musculares , Distrofia Muscular Oculofaríngea , Especialidade de Fisioterapia , RespiraçãoRESUMO
Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement. OPMD typically presents with ptosis, dysarthria, and dysphagia. It can also be associated with proximal and distal extremity weakness. We report two patients with the disease. A 79 years old female presenting with ptosis, dysphagia and a history of three aspiration pneumonias. The patient was subjected to a myotomy of the cricopharyngeal muscle of 4.5 cm of length. The patient had a symptomatic improvement and is in good conditions five months after the operation. A 75 years old male presenting with dysphagia and ptosis. He was operated, performing a myotomy of the cricopharyngeal muscle of 3.5 cm of length. Two and a half months after operation the patient is devoid of dysphagia.
La distrofia muscular oculofaríngea (DMOF) es una enfermedad de carácter hereditario, que cursa con disfagia, ptosis palpebral y debilidad proximal de las extremidades. Para su valoración la realización de manometría y estudio radiológico contrastado pueden ser de gran utilidad a pesar de que el diagnóstico de seguridad se obtiene por el estudio genético del gen PABPN1 del cromosoma 14. La enfermedad se desarrolla al sufrir este gen pequeñas expansiones en el triplete (GCG)7-13. Presentamos dos pacientes diagnosticados genéticamente de DMOF, uno de herencia autosómica dominante y otro de herencia autosómica recesiva, ambos tratados mediante miotomía del cricofaringeo debido a la intensidad de la disfagia. En ambos casos se obtuvo una mejoría clínica evidente después de la intervención.
Assuntos
Humanos , Masculino , Feminino , Idoso , Distrofia Muscular Oculofaríngea/cirurgia , Cartilagem Cricoide/cirurgia , Distrofia Muscular Oculofaríngea/diagnóstico , Distrofia Muscular Oculofaríngea/genética , Eletromiografia , Proteína I de Ligação a Poli(A)/genéticaRESUMO
PURPOSE: To clinically characterize blepharoptosis in Hispanic New Mexicans with oculopharyngeal muscular dystrophy and examine eyelid surgery outcomes. METHODS: A retrospective noncomparative case series and retrospective, nonrandomized, comparative interventional case series was performed on medical records from 86 patients. Main outcome measures included preoperative correlations between margin reflex distance, palpebral fissure height, levator function, and age and postoperative change in palpebral fissure height and time to reoperation for recurrent blepharoptosis after blepharoplasty, levator advancement, or frontalis sling surgery. RESULTS: Preoperative measurements between the right and left eye were symmetrical with respect to margin reflex distance, palpebral fissure height, and levator function (all p < 0.001). There were correlations between age and margin reflex distance, palpebral fissure height, and levator function (all p < or = 0.02). There was no gender difference detected with respect to age, margin reflex distance, palpebral fissure height, and levator function (p > 0.39). Eighty-three patients underwent eyelid surgery. As initial surgery, 15 underwent blepharoplasty, 17 levator advancement, and 51 frontalis suspension. Overall, 93.3% of blepharoplasty patients, 47.1% levator advancement patients, and 7.84% undergoing frontalis suspension had additional surgery for recurrent ptosis (rates differed, p < 0.001). Postoperative change for palpebral fissure height was 0.33 +/- 1.83 mm OD and 1.1 +/- 0.86 mm OS for levator advancement and 2.63 +/- 1.34 mm OD and 2.68 +/-1.47 mm OS for frontalis suspension (p = 0.03, OD and p = 0.004, OS). CONCLUSIONS: Oculopharyngeal muscular dystrophy in Hispanic New Mexicans is a symmetrical, progressive disease that affects men and women similarly. Frontalis suspension is an effective primary surgery with respect to upper eyelid elevation, need for reoperation, and time to reoperation in this patient population.
Assuntos
Blefaroplastia , Blefaroptose/etnologia , Blefaroptose/etiologia , Hispânico ou Latino , Distrofia Muscular Oculofaríngea/complicações , Distrofia Muscular Oculofaríngea/etnologia , Idoso , Idoso de 80 Anos ou mais , Blefaroptose/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , New Mexico/etnologia , Recidiva , Reoperação , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset hereditary myopathy of autosomal dominant transmission characterised by ptosis, dysphagia and limb weakness. The disease is caused by short heterozygous expansions of a (GCN)(10) triplet located in the first exon of the PABPN1 gene at chromosome 14q11.1. Most affected individuals from North America and Europe carry a mutant (GCN)(13) allele. Although evidence for a founder mutation effect has been shown in several populations with OPMD, analysis of large groups of patients from different ethnic backgrounds will help to identify the relative contribution of each allele to the disease and a possible genotype-phenotype correlation. METHODS: 22 unrelated patients with OPMD from Mexico, a previously uncharacterised population, were clinically and molecularly analysed. Detailed ophthalmological and clinical examinations were performed in each proband and molecular analysis of the PABPN1 gene was carried out by PCR amplification and allele-specific cloning/sequencing. Two single nucleotide polymorphisms (SNPs) linked to PABPN1 were determined in each individual and in a number of affected first-degree relatives. RESULTS: 15 subjects (68%) carried a mutant (GCN)(15) or (GCG)(11)(GCA)(3)(GCG) PABPN1 allele; the remaining 7 (32%) exhibited an abnormal (GCN)(13) or (GCG)(9)(GCA)(3)(GCG) allele. Analysis of two SNPs linked to PABPN1 strongly suggests that both expanded alleles originate from two independent founder effects. In addition, in this particular population the (GCN)(15) allele was associated with an earlier onset of the disease (mean 46.5 years) compared with the (GCN)(13) allele (mean 54.7 years). CONCLUSION: The results of this study suggest that OPMD in the Mexican population is mostly due to (GCG)(11) or (GCG)(9) PABPN1 expanded alleles arising from two independent founder effect mutations. These findings add to the definition of the genetic features of the disease and to the establishment of a probable genotype-phenotype correlation.
Assuntos
Efeito Fundador , Distrofia Muscular Oculofaríngea/genética , Proteína I de Ligação a Poli(A)/genética , Adulto , Idoso , Alelos , Sequência de Bases , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Repetições de TrinucleotídeosRESUMO
The dominant oculo-pharyngeal muscular dystrophy mutation consists of an expanded (GCN)(12-17) in the coding region of the PolyA Binding Protein Nuclear 1 gene. A founder effect has been demonstrated in Canadian and Bukhara Jewish populations with relatively high prevalence of this disease. Since the oculo-pharyngeal muscular dystrophy prevalence was remarkably high in Southern Uruguay, a founder effect was hypothesized. To identify the ancestral haplotype we determined the (GCN) repeat number and the variants of four intragenic SNPs in Uruguayan OPMD families and a control sample. All families carrying the mutation (GCG)(11)(GCA)(3)(GCG) shared a common ancestral haplotype and the age of the mutation was estimated in 37-53 generations by a composite likelihood method. One family carrying the (GCG)(9)(GCA)(3)(GCG) allele had a different haplotype. The genealogical and molecular data suggested that the common ancestors were Canary Islands' settlers that arrived in Uruguay in the XIX century.
Assuntos
Efeito Fundador , Distrofia Muscular Oculofaríngea/genética , Mutação/genética , Proteína II de Ligação a Poli(A)/genética , Expansão das Repetições de Trinucleotídeos/genética , Análise Mutacional de DNA , Saúde da Família , Feminino , Genealogia e Heráldica , Testes Genéticos , Haplótipos , Heterozigoto , Humanos , Masculino , Distrofia Muscular Oculofaríngea/metabolismo , Distrofia Muscular Oculofaríngea/fisiopatologia , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , UruguaiRESUMO
La Distrofia Muscular Oculofaríngea es un trastorno hereditario de rara ocurrencia. Este síndrome se caracteriza fundamentalmente por alteraciones oftalmológicas, musculares y digestivas entre otras. Se presenta una familia en la cual a partir del caso control se fueron detectando otros familiares afectados, con un cuadro clínico similar o con signos y síntomas incipientes de la enfermedad, demostrándose la existencia de un patrón de herencia autosómica dominante para esta alteración. Por lo infrecuente de esta enfermedad, en la cual, los trastornos se van agudizando de manera progresiva, llegando a ser invalidantes para el paciente y además por su carácter hereditario se pone a consideración de otros especialistas esta familia(AU)
Assuntos
INFORME DE CASO , Humanos , Feminino , Adulto , Distrofia Muscular Oculofaríngea/genéticaRESUMO
La Distrofia Muscular Oculofaríngea es un trastorno hereditario de rara ocurrencia. Este síndrome se caracteriza fundamentalmente por alteraciones oftalmológicas, musculares y digestivas entre otras. Se presenta una familia en la cual a partir del caso control se fueron detectando otros familiares afectados, con un cuadro clínico similar o con signos y síntomas incipientes de la enfermedad, demostrándose la existencia de un patrón de herencia autosómica dominante para esta alteración. Por lo infrecuente de esta enfermedad, en la cual, los trastornos se van agudizando de manera progresiva, llegando a ser invalidantes para el paciente y además por su carácter hereditario se pone a consideración de otros especialistas esta familia