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1.
Arch Soc Esp Oftalmol ; 84(11): 563-8, 2009 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-19967609

RESUMO

PURPOSE: After studying 3 clinical cases, we have reviewed the clinical and radiological characteristics of meningocele, meningioma and optic nerve glioma. The differential diagnosis and therapeutic management are also discussed. METHODS: Review of three clinical reports of three patients seen in our unit and a bibliographic search concerning the diagnosis and therapeutic management of these three entities at the present time. RESULTS: Differential diagnosis has to be based on a wide range of parameters: epidemiologic (age, race, sex, prevalence of the tumors), clinical (visual acuity, perimetry, Hertel exophthalmometry and funduscopy) and radiologic (computed tomography and magnetic resonance). Anatomopathologic study is required only rarely. The therapeutic options are: observation, surgery and radiotherapy. CONCLUSION: A correct differential diagnosis is mandatory to be able to individualize the treatment for each entity (Arch Soc Esp Oftalmol 2009; 84: 563-568).


Assuntos
Meningioma/diagnóstico , Meningioma/terapia , Meningocele/diagnóstico , Meningocele/terapia , Neoplasias do Nervo Óptico/diagnóstico , Neoplasias do Nervo Óptico/terapia , Adulto , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Glioma do Nervo Óptico/diagnóstico , Glioma do Nervo Óptico/terapia
2.
Arch. Soc. Esp. Oftalmol ; 84(11): 563-568, nov. 2009. ilus
Artigo em Espanhol | IBECS | ID: ibc-77429

RESUMO

Objetivo: Estudiar a partir de 3 casos las característicasclínicas y radiológicas del meningocele,meningioma y glioma del nervio óptico (NO) paradiscutir su diagnóstico diferencial así como su enfoqueterapéutico.Método: Se revisaron las historias clínicas de trespacientes afectos de las patologías anteriormentemencionadas que fueron estudiados en nuestro servicio,y se realizó una revisión bibliográfica sobre eldiagnóstico y tratamiento actual de estas entidades.Resultados: El diagnóstico diferencial debe basarseen un amplio abanico de aspectos: edad, raza,sexo y frecuencia de la tumoración como factoresepidemiológicos a tener en cuenta. Clínicamentelos pilares fundamentales son: agudeza visual (AV),campimetría, exoftalmometría Hertel y funduscopia,que nos servirán para controlar la evolución delproceso. Las características radiológicas que nosaportan la resonancia magnética (RM) y la tomografíacomputerizada (TC) como técnicas de elecciónnos ayudan a diferenciar un cuadro de otro. Enraras ocasiones hay que recurrir al estudio anatomopatológicopara confirmar la entidad. Las opcionesterapéuticas son observación, cirugía, quimioterapiay radioterapia en función de las características del caso.Conclusión: El diagnóstico diferencial de estaspatologías es difícil, y hay que basarse en sus característicasclínicas y radiológicas para así orientarcorrectamente su tratamiento, individualizandocada caso y teniendo en cuenta el comportamientorelativamente benigno de estos tumores para evitaruna decisión terapéutica precipitada(AU)


Purpose: After studying 3 clinical cases, we havereviewed the clinical and radiological characteristicsof meningocele, meningioma and optic nerveglioma. The differential diagnosis and therapeuticmanagement are also discussed.Methods: Review of three clinical reports of threepatients seen in our unit and a bibliographic searchconcerning the diagnosis and therapeutic managementof these three entities at the present time.Results: Differential diagnosis has to be based on awide range of parameters: epidemiologic (age, race,sex, prevalence of the tumors), clinical (visualacuity, perimetry, Hertel exophthalmometry andfunduscopy) and radiologic (computed tomographyand magnetic resonance). Anatomopathologicstudy is required only rarely. The therapeuticoptions are: observation, surgery and radiotherapy.Conclusion: A correct differential diagnosis ismandatory to be able to individualize the treatmentfor each entity(AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Adulto , Meningioma/diagnóstico , Meningioma/etiologia , Meningioma/terapia , Meningocele/diagnóstico , Meningocele/terapia , Glioma/diagnóstico , Glioma/terapia , Nervo Óptico/patologia , Nervo Óptico , Traumatismos do Nervo Óptico
3.
Arch Soc Esp Oftalmol ; 83(7): 445-8, 2008 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-18592447

RESUMO

CLINICAL CASES: A 94-year-old woman, who had had a chalazion for a period of 8 months, presented because of thickening of the eyelid with necrosis, madarosis and adenopathy. A 67-year-old woman, previously operated on for a sebaceous carcinoma, presented because of reddening of the conjunctiva and eyelid. Clinical evaluation revealed inflammation of the eyelid and an irregular and erythematous superior bulbar conjunctiva with disruption of the limbal architecture. DISCUSSION: A sebaceous carcinoma is a tumour which is difficult to diagnose and treat, because it can be patchy and has a tendency to pagetoid dissemination. Diagnosis requires a biopsy of the lesion and mapping of biopsies from the conjunctiva of the eyelid and eyebrow. The subsequent treatment depends on the extent of the tumour, and may involve simple cleavage, topical mitomycin C, radiotherapy or exenteration of the eyebrow.


Assuntos
Adenocarcinoma Sebáceo/diagnóstico , Neoplasias Palpebrais/diagnóstico , Neoplasias das Glândulas Sebáceas/diagnóstico , Adenocarcinoma Sebáceo/radioterapia , Adenocarcinoma Sebáceo/secundário , Adenocarcinoma Sebáceo/cirurgia , Idoso , Idoso de 80 Anos ou mais , Calázio/etiologia , Neoplasias Palpebrais/patologia , Neoplasias Palpebrais/radioterapia , Neoplasias Palpebrais/cirurgia , Feminino , Humanos , Metástase Linfática , Microscopia Acústica , Cuidados Paliativos , Neoplasias das Glândulas Sebáceas/radioterapia , Neoplasias das Glândulas Sebáceas/cirurgia , Tomografia Computadorizada por Raios X
4.
Arch. Soc. Esp. Oftalmol ; 83(7): 445-448, jul. 2008. ilus
Artigo em Es | IBECS | ID: ibc-66569

RESUMO

Casos clínicos: Mujer de 94 años que consulta por chalazión de 8 meses de evolución. Presenta engrosamiento palpebral con necrosis y madarosis, y una adenopatía preauricular. Mujer de 67 años operada de un carcinoma de glándulas sebáceas que acude por enrojecimiento conjuntival y palpebral. La biomicroscopía manifestaba inflamación del párpado y presencia de una conjuntiva bulbar superior irregular y muy eritematosa con desestructuración de la arquitectura limbar. Discusión: El carcinoma de glándulas sebáceas es un tumor de diagnóstico y manejo difícil ya que puede presentarse de manera parcheada y tiene tendencia a la diseminación pagetoide. Para su diagnóstico se debe realizar biopsia escisional y mapa de biopsias de conjuntiva palpebral y bulbar. El tratamiento posterior dependerá de la extensión del tumor, bien escisión simple, Mitomicina C tópica, radioterapia o exenteración orbitaria


Clinical cases: A 94-year-old woman, who had had a chalazion for a period of 8 months, presented because of thickening of the eyelid with necrosis, madarosis and adenopathy. A 67-year-old woman, previously operated on for a sebaceous carcinoma, presented because of reddening of the conjunctiva and eyelid. Clinical evaluation revealed inflammation of the eyelid and an irregular and erythematous superior bulbar conjunctiva with disruption of the limbal architecture. Discussion: A sebaceous carcinoma is a tumour which is difficult to diagnose and treat, because it can be patchy and has a tendency to pagetoid dissemination. Diagnosis requires a biopsy of the lesion and mapping of biopsies from the conjunctiva of the eyelid and eyebrow. The subsequent treatment depends on the extent of the tumour, and may involve simple cleavage, topical mitomycin C, radiotherapy or exenteration of the eyebrow


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Neoplasias das Glândulas Sebáceas/complicações , Neoplasias das Glândulas Sebáceas/diagnóstico , Carcinoma/complicações , Carcinoma/diagnóstico , Porfiromicina/uso terapêutico , Blefaroptose/complicações , Conjuntivite/complicações , Conjuntivite/diagnóstico , Blefarite/radioterapia , Biópsia , Tomografia Computadorizada de Emissão
5.
Arch Soc Esp Oftalmol ; 82(10): 641-4, 2007 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-17929208

RESUMO

CASE REPORT: We present the case of a patient who suffered from rupture of her left eye due to moderate blunt trauma. The lens, which was dislocated to the nasal and superior subconjunctival space, was extracted and the wound explored and repaired; when the process had stabilized secondary vitrectomy and suture of an IOL to the sulcus were performed, achieving a final visual acuity of 0.3. DISCUSSION: Eye trauma is common and eye rupture may occur in those patients who have undergone ocular surgery or suffer from a debilitating condition of the eye. None of these predisposing factors existed in our case. Despite the seriousness of the problem, appropriate treatment achieved good visual function.


Assuntos
Traumatismos Oculares/complicações , Subluxação do Cristalino/etiologia , Idoso , Túnica Conjuntiva , Traumatismos Oculares/cirurgia , Feminino , Humanos , Subluxação do Cristalino/cirurgia , Ruptura
6.
Arch. Soc. Esp. Oftalmol ; 82(10): 641-644, oct. 2007. ilus
Artigo em Es | IBECS | ID: ibc-056453

RESUMO

Caso clínico: Se describe el caso de una paciente que sufre estallido del globo ocular izquierdo secundario a un traumatismo de moderada intensidad. Se produjo luxación del cristalino al espacio subconjuntival nasal superior. El cristalino fue extraído y al producirse la estabilidad del cuadro se realizó vitrectomía y sutura de lente intraocular a sulcus, alcanzando una agudeza visual de 0,3. Discusión: Los traumatismos oculares son muy frecuentes y el estallido ocular suele producirse en aquellos casos que presentan patología debilitante del globo ocular o antecedentes de cirugías previas, hechos que no se presentaban en nuestro caso. A pesar de la gravedad del cuadro, la paciente alcanzó una buena función visual final


Case report: We present the case of a patient who suffered from rupture of her left eye due to moderate blunt trauma. The lens, which was dislocated to the nasal and superior subconjunctival space, was extracted and the wound explored and repaired; when the process had stabilized secondary vitrectomy and suture of an IOL to the sulcus were performed, achieving a final visual acuity of 0.3. Discussion: Eye trauma is common and eye rupture may occur in those patients who have undergone ocular surgery or suffer from a debilitating condition of the eye. None of these predisposing factors existed in our case. Despite the seriousness of the problem, appropriate treatment achieved good visual function


Assuntos
Feminino , Idoso , Humanos , Traumatismos Oculares/complicações , Subluxação do Cristalino/diagnóstico , Subluxação do Cristalino/cirurgia , Tomografia Computadorizada por Raios X , Imageamento por Ressonância Magnética , Resultado do Tratamento
7.
Arch Soc Esp Oftalmol ; 82(6): 369-71, 2007 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-17573648

RESUMO

CASE: A 53-year-old man who showed a loss of tarsal suspension in the lateral third of both lower eyelids underwent lateral canthoplasty with a good post-operative result. DISCUSSION: Disinsertion of the union of the inferior tarsus with the lateral canthus, of unknown cause, is a very uncommon finding that has almost never been reported in the world literature. There are two cases described of eyelid elastolysis with loss of lateral tarsal suspension, as in our case, but both showed eyelid skin atrophy and had histopathologic confirmation. Our case did not have skin atrophy.


Assuntos
Doenças Palpebrais/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade
8.
Arch. Soc. Esp. Oftalmol ; 82(6): 369-372, jun. 2007. ilus
Artigo em Es | IBECS | ID: ibc-055422

RESUMO

Caso clínico: Varón de 53 años, que presentaba ausencia de tarso en tercio externo del párpado inferior de ambos ojos. Se realizó cantoplastia lateral, con buen resultado postoperatorio. Discusión: La dehiscencia de la unión del tarso inferior con el canto lateral sin causa conocida es un hallazgo muy infrecuente y que apenas tiene reflejo en la literatura. Están descritos dos casos de elastólisis de los párpados que asociaban ausencia de la suspensión tarsal lateral, pero ambos presentaban atrofia de la piel palpebral con alteración del componente elástico de la piel, confirmada histológicamente, mientras que en este caso la piel era normal


Case: A 53-year-old man who showed a loss of tarsal suspension in the lateral third of both lower eyelids underwent lateral canthoplasty with a good post-operative result. Discussion: Disinsertion of the union of the inferior tarsus with the lateral canthus, of unknown cause, is a very uncommon finding that has almost never been reported in the world literature. There are two cases described of eyelid elastolysis with loss of lateral tarsal suspension, as in our case, but both showed eyelid skin atrophy and had histopathologic confirmation. Our case did not have skin atrophy


Assuntos
Masculino , Pessoa de Meia-Idade , Humanos , Blefaroptose/complicações , Blefaroptose/diagnóstico , Pestanas/anormalidades , Doenças Palpebrais/complicações , Doenças Palpebrais/diagnóstico , Pálpebras/patologia , Pálpebras/cirurgia , Pálpebras , Doenças Palpebrais/cirurgia , Blefaroptose/cirurgia , Condicionamento Palpebral/fisiologia , Pálpebras/lesões , Pálpebras/fisiopatologia
9.
Pharmacoepidemiol Drug Saf ; 16(9): 1018-23, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17455181

RESUMO

PURPOSE: To assess the prevalence and characteristics of psychiatric drug use in pregnancy. METHODS: A prospective observational study was performed on a total of 1332 consecutive women admitted for delivery, during a 3 months period, in the public obstetric services of Tenerife Island (covering a population of 1 000 000 inhabitants). RESULTS: Less than 4% (3.6%) of the women recognised having a psychiatric disorder, and only 2.5% were receiving psychiatric drug treatment at the moment they knew they were pregnant; of those, 68.7% introduced substantial modifications in their treatment at that moment, 47.9% did not report any change with respect to the period before pregnancy and 35.4% recognised that their mood was worse than previously. Although patients affected by a psychiatric disorder registered a higher rate of abdominal delivery, no differences in delivery or obstetric complications were found between women with and without psychiatric illness or in relation to psychiatric drug treatment. CONCLUSIONS: Compared to the literature, the studied population shows a lower rate of psychiatric problems and pharmacological treatment. This might reflect underrecognition or undertreatment.


Assuntos
Revisão de Uso de Medicamentos/estatística & dados numéricos , Complicações na Gravidez/tratamento farmacológico , Psicotrópicos/uso terapêutico , Inquéritos e Questionários , Adolescente , Adulto , Antidepressivos/administração & dosagem , Antidepressivos/uso terapêutico , Benzodiazepinas/uso terapêutico , Cesárea/estatística & dados numéricos , Transtorno Depressivo/tratamento farmacológico , Revisão de Uso de Medicamentos/métodos , Transtornos da Alimentação e da Ingestão de Alimentos/tratamento farmacológico , Feminino , Humanos , Recém-Nascido , Compostos de Lítio/uso terapêutico , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/tratamento farmacológico , Paroxetina/uso terapêutico , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Espanha , Resultado do Tratamento , Suspensão de Tratamento/estatística & dados numéricos
10.
Eye (Lond) ; 21(2): 164-8, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16254590

RESUMO

AIM: To compare 6 months of treatment with bimatoprost and timolol in terms of their hypotensive efficacy and secondary effects, including changes in macular thickness and the inflammatory reaction induced in the anterior chamber. METHODS: A prospective, randomized, parallel-group trial performed on 30 eyes of 30 patients per group. The main outcome measure was the difference between the IOP value taken between the baseline visit and the 6-month-visit. Macular thickness determined through optical coherence tomography and anterior chamber inflammation estimated using the laser flare meter was also evaluated. Adverse events were recorded during the study period. RESULTS: Bimatoprost treatment gave rise to a significantly lower mean IOP than timolol in all follow-up visits as from the first month (P<0.05). Bimatoprost achieved high percentage IOP reductions from baseline in a significantly higher proportion of patients (P<0.05). Macular thickness and anterior chamber flare failed to vary significantly both between the two groups and within each group during the 6-month evaluation (P>0.05). CONCLUSIONS: Bimatoprost 0.03% once daily showed a greater efficacy then timolol 0.05% twice daily in patients with elevated IOP. No significant differences were detected in macular thickness or anterior uveitis using optical coherence tomography and laser flare photometry.


Assuntos
Amidas/uso terapêutico , Anti-Hipertensivos/uso terapêutico , Cloprostenol/análogos & derivados , Glaucoma de Ângulo Aberto/tratamento farmacológico , Lipídeos/uso terapêutico , Hipertensão Ocular/tratamento farmacológico , Timolol/uso terapêutico , Adulto , Amidas/efeitos adversos , Câmara Anterior/efeitos dos fármacos , Câmara Anterior/patologia , Anti-Hipertensivos/efeitos adversos , Bimatoprost , Cloprostenol/efeitos adversos , Cloprostenol/uso terapêutico , Glaucoma de Ângulo Aberto/patologia , Humanos , Pressão Intraocular/efeitos dos fármacos , Lipídeos/efeitos adversos , Macula Lutea/efeitos dos fármacos , Macula Lutea/patologia , Hipertensão Ocular/patologia , Estudos Prospectivos , Timolol/efeitos adversos , Resultado do Tratamento
11.
J Perinatol ; 27(1): 4-8, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17180126

RESUMO

OBJECTIVE: To analyze the clinical and sonographic variables that predicts the success of labor induction. STUDY DESIGN: We studied the Bishop score, cervical length and parity in 196 pregnant women in the prediction of successful vaginal delivery within 24 h of induction. Logistic regression and segmentation analysis were performed. RESULTS: Cervical length (odds ratio (OR) 1.089, P<0.001), Bishop score (OR 0.751, P=0.001) and parity (OR 4.7, P<0.001) predict the success of labor induction. In a global analysis of the variables studied, the best statistic sequence that predicts the labor induction was found when we introduced parity in the first place. The success of labor induction in nulliparous was 50.8 and 83.3% in multiparous women (P=0.0001). CONCLUSIONS: Cervical length, Bishop score and parity, integrated in a flow chart, provide independent prediction of vaginal delivery within 24 h of induction.


Assuntos
Trabalho de Parto Induzido , Adulto , Peso ao Nascer , Colo do Útero/diagnóstico por imagem , Cesárea , Parto Obstétrico , Feminino , Humanos , Recém-Nascido , Variações Dependentes do Observador , Paridade , Gravidez , Resultado do Tratamento , Ultrassonografia
13.
J Perinat Med ; 34(1): 56-65, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16489886

RESUMO

AIM: To construct normal standards for fetal neurobehavioral development using longitudinal observations through all trimesters by four-dimensional sonography. SUBJECT AND METHODS: A group of 100 healthy normal singleton pregnancies were recruited for longitudinal 4D US examinations to evaluate fetal neurodevelopmental parameters between 7 to 40 weeks' gestation. Variables of maternal and fetal characteristics including gestational age, eight fetal movements patterns in the first trimester and 14 parameters of fetal movement and fetal facial expression patterns recorded thereafter for the construction of fetal neurological charts. RESULTS: Measurement of 7 parameters in the first trimester and 11 parameters in the second and third trimesters correlated with gestational age (P<0.05). Those parameters have been followed longitudinally through all trimesters and showed increasing frequency of fetal movements during the first trimester. A tendency towards decreased frequency of facial expressions and movement patterns with increasing gestational age from second to third trimesters has been noticed. CONCLUSION: With 4D sonography, it is possible to quantitatively assess normal neurobehavioral development. There is urgent need for further multicentric studies until a sufficient degree of normative data is available and the predictive validity of the specific relationship between fetal neurobehavior and child developmental outcome is better established.


Assuntos
Desenvolvimento Fetal , Movimento Fetal , Aumento da Imagem/métodos , Ultrassonografia Pré-Natal/métodos , Encéfalo/embriologia , Encéfalo/fisiologia , Expressão Facial , Feminino , Idade Gestacional , Humanos , Estudos Longitudinais , Gravidez , Trimestres da Gravidez
14.
Arch Soc Esp Oftalmol ; 80(12): 725-8, 2005 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-16372216

RESUMO

CASE REPORT: We report the case of a patient with Multiple Myeloma Ig G Kappa stage IIIA and hepatic infiltration, who presented with ocular infiltration. The initial sign was a rapidly growing sub-conjunctival mass that caused ophthalmoplegia and increased intraocular pressure secondary to progressive infiltration of the orbit. DISCUSSION: Multiple Myeloma is a malignant tumor of plasma cells that can affect the eye and orbit, not only as an infiltration secondary to the disease but also primary as an isolated tissue proliferation (extramedullary plasmacytoma). Chemotherapy is the usual treatment given. Radiotherapy with or without excisional surgery is the first option for plasmacytomas.


Assuntos
Neoplasias Hepáticas/secundário , Mieloma Múltiplo/secundário , Neoplasias Orbitárias/secundário , Antineoplásicos/uso terapêutico , Humanos , Pressão Intraocular , Neoplasias Hepáticas/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/diagnóstico por imagem , Mieloma Múltiplo/tratamento farmacológico , Hipertensão Ocular/etiologia , Oftalmoplegia/etiologia , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/tratamento farmacológico , Tomografia Computadorizada por Raios X , Resultado do Tratamento
15.
Arch. Soc. Esp. Oftalmol ; 80(12): 725-728, dic. 2005. ilus
Artigo em Es | IBECS | ID: ibc-044479

RESUMO

Caso clínico: Se describe un caso de infiltración ocular en un paciente con mieloma múltiple Ig G Kappa estadio IIIA con infiltración hepática. El cuadro clínico ocular debutó como masa subconjuntival de rápido crecimiento que produjo oftalmoplejia e incremento de la presión intraocular por infiltración progresiva orbitaria.Discusión: El mieloma múltiple es una neoplasia maligna de células plasmáticas que puede presentarse en el territorio ocular como infiltración secundaria al mieloma o como proliferación aislada (plasmocitoma extramedular). El tratamiento de elección es la quimioterapia y en los plasmocitomas la radioterapia local con o sin excisión quirúrgica


Case report: We report the case of a patient with Multiple Myeloma Ig G Kappa stage IIIA and hepatic infiltration, who presented with ocular infiltration. The initial sign was a rapidly growing sub-conjunctival mass that caused ophthalmoplegia and increased intraocular pressure secondary to progressive infiltration of the orbit. Discussion: Multiple Myeloma is a malignant tumor of plasma cells that can affect the eye and orbit, not only as an infiltration secondary to the disease but also primary as an isolated tissue proliferation (extramedullary plasmacytoma). Chemotherapy is the usual treatment given. Radiotherapy with or without excisional surgery is the first option for plasmacytomas


Assuntos
Masculino , Pessoa de Meia-Idade , Humanos , Mieloma Múltiplo/secundário , Neoplasias Hepáticas/secundário , Neoplasias Orbitárias/secundário , Antineoplásicos/uso terapêutico , Pressão Intraocular , Mieloma Múltiplo/tratamento farmacológico , Mieloma Múltiplo , Hipertensão Ocular/etiologia , Oftalmoplegia/etiologia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Orbitárias/tratamento farmacológico , Neoplasias Orbitárias
17.
Prenat Diagn ; 14(3): 219-22, 1994 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8052572

RESUMO

We present a case of prenatal diagnosis of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a decreased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1/2a and EF13/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking the SMA gene, on chromosome 5q11.2-13.3. The fetus was diagnosed as homozygous for the deleterious SMA gene.


Assuntos
DNA Satélite/análise , Ligação Genética , Diagnóstico Pré-Natal/métodos , Atrofias Musculares Espinais da Infância/diagnóstico , Cordão Umbilical/química , Adulto , Sequência de Bases , Feminino , Marcadores Genéticos , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo Genético , Gravidez , Sequências Repetitivas de Ácido Nucleico
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