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1.
Bol Med Hosp Infant Mex ; 79(1): 26-32, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35086126

RESUMO

BACKGROUND: Ocular trauma is one of the leading causes of decreased visual acuity and monocular blindness in the pediatric population. Since its occurrence is potentially preventable, it is essential to understand its demographic characteristics and risk factors to alert and implement prevention and health promotion programs. METHODS: We conducted a retrospective study in which we reviewed 187 clinical records of patients ≤ 15 years old with the diagnosis of severe ocular trauma admitted in 2017 to the Hospital Civil de Guadalajara. We analyzed demographic variables, circumstances of the event, type of treatment, and the evolution of visual acuity and complications. RESULTS: In total, 187 patients and 188 eyes were included; the average age was 6.99 ± 4.1 years. Children of 2 to 5 years of age (41%) were the most affected, and a higher occurrence was observed in males (73%). Open ocular trauma was the most common type of injury (72.7%) caused by sharp objects (45.4%). Most injuries occurred at home (78.1%), without adult supervision (48.1%), and during leisure time (74.9%). Most events were accidental (80.4%), although 12.3% were direct aggression. Surgery was required in 179 patients, in whom corneal injury repair (43.2%) was the most commonly used procedure. Final visual acuity was quantified in 132 eyes, and visual acuity < 20/200 was found in 18.1%. Loss of 4.2% of the eyeballs was recorded. CONCLUSIONS: The highest proportion of cases was identified in male patients ≤5 years old, unsupervised by an adult. Many eye injuries are preventable, so it is necessary to implement socio-educational programs in alliance with pediatric organizations that alert the severity of the problem and promote safe environments.


INTRODUCCIÓN: El trauma ocular es una de las principales causas de disminución de la agudeza visual y de ceguera monocular en la población pediátrica. Su ocurrencia es potencialmente prevenible, por lo que es importante entender sus características demográficas y riesgos para alertar e implementar programas enfocados hacia la prevención y la promoción de la salud. MÉTODOS: Estudio retrospectivo en el que se analizaron 187 expedientes de pacientes ≤ 15 años con diagnóstico de trauma ocular grave ingresados en 2017 al Hospital Civil de Guadalajara. Se analizaron variables demográficas, circunstancias del evento y tipo de tratamiento, así como la evolución de la agudeza visual y las complicaciones. RESULTADOS: Se incluyeron 187 pacientes y 188 ojos; el promedio de edad en el momento del trauma fue de 6.99 ± 4.1 años. Los niños de 2-5 años (41%) fueron los más afectados y se observó una mayor ocurrencia en el sexo masculino (73%). El trauma ocular abierto fue el tipo de lesión más común (72.7%), causado por objetos punzantes (45.4%). La mayoría de las lesiones ocurrieron en casa (78.1%), sin supervisión de un adulto (48.1%) y durante el tiempo libre (74.9%). La mayoría de los sucesos fueron accidentales (80.4%), aunque el 12.3% fue por agresiones directas. Se requirió cirugía en 179 pacientes, en quienes la reparación de lesión corneal (43.2%) fue el procedimiento más utilizado. La agudeza visual final se cuantificó en 132 ojos y se encontró < 20/200 en el 18.1%. Se registró la pérdida del 4.2% de los globos oculares. CONCLUSIONES: La proporción más alta de casos se identificó en pacientes de sexo masculino ≤ 5 años, que se encontraban sin supervisión. Una gran proporción de las lesiones oculares son prevenibles, por lo que es necesario implementar programas educativos sociales en coordinación con organizaciones pediátricas que alerten de la gravedad del problema y promuevan entornos seguros.


Assuntos
Traumatismos Oculares , Adolescente , Adulto , Criança , Pré-Escolar , Traumatismos Oculares/complicações , Traumatismos Oculares/diagnóstico , Traumatismos Oculares/epidemiologia , Hospitais , Humanos , Masculino , México/epidemiologia , Estudos Retrospectivos , Acuidade Visual
2.
Am J Med Genet A ; 182(5): 1223-1229, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32022998

RESUMO

We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein truncation. From our review, we found at least 39 published CFNS patients with extracranial midline defects, comprising congenital diaphragmatic hernia, congenital heart defects, umbilical hernia, hypospadias, and less frequently, sacrococcygeal teratomas, and internal genital anomalies in females. These findings support that the EFNB1 mutations have systemic consequences disrupting morphogenetic events at the extracranial midline. Though these are not rigorously included as midline defects, we found at least 10 CFNS patients with congenital anomalies of the kidney and urinary tract, all females. Additionally, uterus didelphys and ocular melanocytosis observed in our patient are proposed also as a previously unreported EFNB1-related midline defects. In addition, this case may be useful for considering the intentional search for genitourinary anomalies in future patients with CFNS, which will be helpful to define their frequency in this entity.


Assuntos
Agenesia do Corpo Caloso/genética , Anormalidades Craniofaciais/genética , Efrina-B1/genética , Hérnias Diafragmáticas Congênitas/genética , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/patologia , Criança , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/patologia , Éxons/genética , Feminino , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/patologia , Heterozigoto , Humanos , Lactente , Masculino , Mutação/genética , Crânio/diagnóstico por imagem , Crânio/patologia
3.
Matern Child Health J ; 19(6): 1417-25, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25452216

RESUMO

To describe the characteristics of infants with bilateral Stage 4b or 5 ROP (i.e. with subtotal or total retinal detachment) who presented to eye departments in two major cities in Mexico, to identify reasons why they may have become blind in order to recommend how programs could be improved. A large case-series of infants with Stage 4b or 5 ROP in both eyes confirmed by ultrasound who attended the ROP Clinic, Hospital Civil de Guadalajara from September 2010 to November 2012, and the Department of Ophthalmology, Hospital Infantil de Mexico Federico Gomez from December 2011 to December 2012 were identified from the diagnostic databases of each hospital. Mothers of infants in Guadalajara had a telephone interview. 89/94 eligible infants were included in the study, 48 in Guadalajara and 41 in Mexico City. Cases came from 22 of the 32 states in Mexico. Half of the infants attending Guadalajara 24/48 (50 %) had been cared for in NICUs without ROP screening programs and were not examined. Among the 24 infants cared for in NICUs with ROP programs, 7/24 (29.1 %) mothers reported that their infant had not been examined while in the NICU, and a further 9/24 (37.5 %) were either not referred for screening after discharge or they did not attend. Two infants had failed laser treatment. Strategies and resources to prevent end stage ROP have not been firmly established in Mexico. There is an urgent need to expand the coverage and quality of ROP programs, to ensure that existing screening guidelines are better adhered to, and to improve communication with parents.


Assuntos
Diagnóstico Tardio/estatística & dados numéricos , Retinopatia da Prematuridade/diagnóstico , Adolescente , Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Masculino , Idade Materna , México/epidemiologia , Oftalmologia/estatística & dados numéricos , Retinopatia da Prematuridade/etiologia , Fatores de Risco , Atenção Terciária à Saúde/estatística & dados numéricos , Adulto Jovem
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