ABSTRACT
Retinoblastoma (Rb), the most frequent malignant intraocular tumor in childhood, is caused by mutations in the retinoblastoma gene (RB1) situated on chromosome 13q14.2. The incidence of retinoblastoma is approximately 1 in 17,000 live births with approximately 8,000 new cases diagnosed each year worldwide. Rb is the prototypical hereditary cancer in humans. Autosomal dominant inheritance is seen in 30-40% of cases whereas the non-inherited sporadic type accounts for the remaining 60-70%. Rb arises due to inactivation of both alleles of the Rb tumor suppressor gene, which results in a defective Rb protein (pRB) with subsequent cell cycle impairment and uncontrolled cell proliferation. Patients with Rb have survival rates higher than 95-98% in industrialized countries but mortality remains high in developing countries. For example, the mortality rate in Africa is 70%. In all cases of intraocular and extraocular retinoblastoma, there is a need for new therapies that are more effective and carry less risk of toxicity. The Bruckner test is a practical and easy test for the detection of Rb, this test consists of assessing the fundus reflex through the pupil (red reflex) in both eyes simultaneously with a bright coaxial light produced with the direct ophthalmoscope. Rb can be detected by the Bruckner test showing a pupil that shines white or "Leukocoria". Although the diagnosis of Rb remains essentially clinical, the newly identified biomarkers could contribute to early molecular detection, timely detection of micrometastases and establish new therapeutic options for Rb.
ABSTRACT
Abstract: Proteomics is the study of the expression of changes and post-translational modifications (PTM) of proteins along a metabolic condition either normal or pathological. In the field of health, proteomics allows obtaining valuable data for treatment, diagnosis or pathophysiological mechanisms of different illnesses. To illustrate the aforementioned, we describe two projects currently being performed at the Instituto Nacional de Pediatría: The immuno-proteomic study of cow milk allergy and the Proteomic study of childhood cataract. Cow's milk proteins (CMP) are the first antigens to which infants are exposed and generate allergy in some of them. In Mexico, the incidence of CMP allergy has been estimated at 5-7%. Clinical manifestations include both gastrointestinal and extra-gastrointestinal symptoms, making its diagnosis extremely difficult. An inappropriate diagnosis affects the development and growth of children. The goals of the study are to identify the main immune-reactive CMP in Mexican pediatric population and to design more accurate diagnostic tools for this disease. Childhood cataract is a major ocular disease representing one of the main causes of blindness in infants; in developing countries, this disease promotes up to 27% of cases related to visual loss. From this group, it has been estimated that close to 60% of children do not survive beyond two years after vision lost. PTM have been pointed out as the main cause of protein precipitation at the crystalline and, consequently, clouding of this tissue. The study of childhood cataract represents an outstanding opportunity to identify the PTM associated to the cataract-genesis process.
Resumen: La proteómica estudia los cambios de expresión y post-traduccionales (PTM) de las proteínas durante una condición metabólica normal o patológica. En el campo de la salud, la proteómica permite obtener datos útiles para el tratamiento, diagnóstico o en la fisiopatología de diferentes enfermedades. Para ilustrar lo anterior, describimos dos proyectos realizados en el Instituto Nacional de Pediatría: El estudio inmunoproteómico de la alergia a la leche y el estudio proteómico de la catarata infantil. Las proteínas de leche bovina (PLB) son los primeros antígenos a los que se exponen los infantes y un porcentaje de ellos generará alergias. En México, se estima que la incidencia de alergias a las PLB es del 5-7%. Las manifestaciones clínicas incluyen tanto síntomas gastrointestinales como extra-gastrointestinales, dificultando su diagnóstico. Un mal diagnóstico afecta el desarrollo y crecimiento del infante. Los objetivos del estudio son identificar las principales PLB inmunoreactivas en población infantil mexicana y diseñar herramientas diagnósticas más precisas para esta patología. La catarata infantil es una enfermedad ocular que representa una de las causas principales de ceguera infantil; en países subdesarrollados genera cerca del 27% de casos relacionados con pérdida visual. De este grupo, se estima que cerca del 60% de los infantes no sobreviven más allá de los dos años después de perder la visión. Se señala a las PTM como las responsables de la precipitación de proteínas del cristalino y, por tanto, de su opacidad. El estudio de la catarata infantil representa una oportunidad para identificar las PTM vinculadas con la cataratogénesis.
Subject(s)
Child , Humans , Cataract/diagnosis , Milk Hypersensitivity/diagnosis , Proteomics/methods , Protein Processing, Post-Translational/physiology , Milk Hypersensitivity/immunology , Mexico , Milk Proteins/immunologyABSTRACT
Proteomics is the study of the expression of changes and post-translational modifications (PTM) of proteins along a metabolic condition either normal or pathological. In the field of health, proteomics allows obtaining valuable data for treatment, diagnosis or pathophysiological mechanisms of different illnesses. To illustrate the aforementioned, we describe two projects currently being performed at the Instituto Nacional de Pediatría: The immuno-proteomic study of cow milk allergy and the Proteomic study of childhood cataract. Cow's milk proteins (CMP) are the first antigens to which infants are exposed and generate allergy in some of them. In Mexico, the incidence of CMP allergy has been estimated at 5-7%. Clinical manifestations include both gastrointestinal and extra-gastrointestinal symptoms, making its diagnosis extremely difficult. An inappropriate diagnosis affects the development and growth of children. The goals of the study are to identify the main immune-reactive CMP in Mexican pediatric population and to design more accurate diagnostic tools for this disease. Childhood cataract is a major ocular disease representing one of the main causes of blindness in infants; in developing countries, this disease promotes up to 27% of cases related to visual loss. From this group, it has been estimated that close to 60% of children do not survive beyond two years after vision lost. PTM have been pointed out as the main cause of protein precipitation at the crystalline and, consequently, clouding of this tissue. The study of childhood cataract represents an outstanding opportunity to identify the PTM associated to the cataract-genesis process.
Subject(s)
Cataract/diagnosis , Milk Hypersensitivity/diagnosis , Proteomics/methods , Child , Humans , Mexico , Milk Hypersensitivity/immunology , Milk Proteins/immunology , Protein Processing, Post-Translational/physiologyABSTRACT
Congenital toxoplasmosis is an obstetric problem in Mexico, but its actual frequency is unknown. Using a network for screening of non-infectious disorders, we performed a pilot study to determine the frequency of IgM antibodies to Toxoplasma gondii in 1,003 infants (53.1% male, mean +/- SD age = 18.3 +/- 13.0 days, birth weight = 3.116 +/- 0.453 kg) in Mexico City from March to April 2003. Blood samples embedded in filter paper were assayed for IgM antibodies using a capture enzyme-linked immunosorbent assay and results were confirmed by Western blot. Two asymptomatic newborns, one of them premature, had IgM and IgG antibodies in a serum sample taken from both the infant and the mother and were clinically followed. Our data suggest a frequency of approximately two cases of congenital T. gondii infection per 1,000 newborns in Mexico City.
Subject(s)
Infectious Disease Transmission, Vertical/prevention & control , Toxoplasmosis, Congenital/epidemiology , Toxoplasmosis, Congenital/prevention & control , Adult , Animals , Antibodies, Protozoan/blood , Blotting, Western , Enzyme-Linked Immunosorbent Assay , Female , Humans , Infant, Newborn , Male , Mexico/epidemiology , Pilot Projects , Prevalence , Risk Factors , Toxoplasma/immunology , Toxoplasmosis, Congenital/etiology , Toxoplasmosis, Congenital/transmissionABSTRACT
BACKGROUND: The seasonal allergic conjunctivitis is an inflammatory disease of the ocular surface that affects mainly children, with predominance of male sex. It is an immunological disease with a typical reaction of hypersensitivity type 1 (IgE), resulted from several biological reactions (antigen-antibody) and it's associated to several risk factors. OBJECTIVE: To determine the more frequently identified allergens and the associated risk factors to the seasonal allergic conjunctivitis in children living in Mexico City. MATERIAL AND METHODS: Ophthalmologic clinical study done to 50 patients with diagnosis of seasonal allergic conjunctivitis, during the months of March to October, 2001, at the Ophthalmology Department of the National Pediatric Institute. A control group was integrated by 50 patients of the consultation of ophthalmology with non-allergic ocular pathology, and percutaneous skin tests were made. A direct interrogation was applied to both groups to investigate associated risk factors of atopy. RESULTS: The associated risk factors to the development of allergic conjunctivitis are: family atopic background, negative antecedent of breast feeding, asthma o rhinitis (statistically significant). The most frequently identified allergens were Dermatophagoides pteronissinus, Dermatophagoides farinae, Lolium perenne and Atriplex bacteosa, of the group of dust mites and pollen, respectively. CONCLUSION: It is important to see our patients in an integral way. In the case of patients with seasonal allergic conjunctivitis, it should not be forgotten to make an interrogation of the factors associated to atopy and, if it is possible, to inform to the patient and their relatives about these, in order to prevent them.
Subject(s)
Allergens/adverse effects , Conjunctivitis, Allergic/immunology , Animals , Animals, Domestic , Breast Feeding , Cell Adhesion Molecules/metabolism , Chemokines/metabolism , Child , Child, Preschool , Conjunctiva/pathology , Conjunctivitis, Allergic/drug therapy , Conjunctivitis, Allergic/epidemiology , Conjunctivitis, Allergic/metabolism , Cornea/pathology , Cross-Sectional Studies , Dermatitis, Atopic/epidemiology , Female , Humans , Hypersensitivity, Immediate/genetics , Infant , Infant Food , Male , Mexico/epidemiology , Rhinitis, Allergic, Seasonal/epidemiology , Risk Factors , Seasons , Skin Tests , Th2 Cells/immunology , Tobacco Smoke PollutionABSTRACT
Objetivo: Este es el primero de siete artículos en los cuales se revisarán la genética, epidemiología, patología, características clínicas, estudios de gabinete, tratamiento y diagnóstico diferencial del retinoblastoma. En éste estudiaremos las características genéticas del retinoblastoma y revisaremos la literatura. Método: Se estudiaron los expedientes de pacientes con retinoblastoma para conocer el sexo, la edad al diagnóstico, cuántos casos son heredados o esporádicos, y si afectó uno o ambos ojos. Resultados: De 405 casos de retinoblastoma, 196 hombres y 209 mujeres, 317 fueron esporádicos unilaterales con un rango de edades de 46 días a 17 años y un promedio de 32 meses de edad, 67 casos fueron bilaterales sin antecedentes familiares con un rango de 30 días a 12 años y un promedio de 28 meses de edad, 18 fueron bilaterales con antecedentes familiares, con un rango de 10 días a 9 años, y un promedio de 16 meses, y 3 fueron hereditarios unilaterales de 60 días, 180 días y 9 años de edad respectivamente. Conclusiones: No hay diferencia significativa en el sexo de los pacientes con retinoblastoma; los casos esporádicos se presentan más tardíamente que los hereditarios, aunque esto no es la regla; se debe dar consejo genético a todos los pacientes con retinoblastoma, y es necesario revisar a los padres, hermanos, primos, tíos y abuelos del paciente.
Subject(s)
Humans , Male , Child, Preschool , Child , Adolescent , Female , Infant, Newborn , Infant , Oncogenes , Retinoblastoma , Eye NeoplasmsABSTRACT
Se realizó un estudio retrospectivo en el Instituto Nacional de Pediatría del año 1993 a 1998 donde se estudiaron 104 expedientes de pacientes con diagnóstico de artritis reumatoide juvenil (ARJ) y se buscaron datos de uveítis, encontrándose 13 pacientes con esta complicación, siendo el sexo femenino con ARJ de tipo pauciarticular y anticuerpos antinucleares positivos el de mayor riesgo; los hombres que presentaron datos de uveítis fueron el grupo que presentó un peor pronóstico visual y mayores complicaciones. La detección temprana y el tratamiento oportuno de todos los pacientes con ARJ sin importar el sexo nos da un mejor pronóstico visual.
Subject(s)
Humans , Male , Female , Child, Preschool , Adolescent , Arthritis, Juvenile/physiopathology , Uveitis , Antibodies, Antinuclear , Rheumatoid Factor , Iridocyclitis , Eye/physiopathologyABSTRACT
Revisión retrospectiva de casos de trauma ocular pediátrico, determinando causas, características y asociaciones.Las caídas y el involucro de objetos metálicos fueron el origen más común, ocasionando equimosis palpebral, hifema y herida corneal, principalmente. Asociación con traumatismo craneoencefálico, abuso infantil y neoplasias preexistentes.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Adolescent , Eye Injuries/etiology , Craniocerebral Trauma , Child Abuse , Wounds and Injuries , Exophthalmos/physiopathology , Conjunctiva/injuries , Ecchymosis/physiopathologyABSTRACT
El síndrome de McCune Albright, se caracteriza por una triada de signos físicos, integrada por pubertad precoz, áreas pigmentadas en piel, café con leche, y lesiones óseas, conocidas en su conjunto como displasia fibrosa poliostótica, que se presenta en la primera década de la vida. Estas lesiones óseas pueden afectar cráneo y órbita ocasionando deterioro importante de la función visual y producir pérdida del ojo afectado si este padecimiento no es diagnosticado y tratado oportunamente.En este artículo se presenta un caso de síndrome de McCune-Albright que involucró ambas órbitas, con proptosis progresiva y dolorosa en ambos ojos. Se efectuó orbitotomía y legrado óseo de bordes orbitarios superiores, presentándose posterior a la cirugía mejoría en la agudeza visual de 20/20 en ojo derecho y de 20/50 en ojo izquierdo, así como resolución de la sintomatología y mejoría de la proptosis.
Subject(s)
Humans , Female , Child, Preschool , Exophthalmos , Fibrous Dysplasia, Polyostotic/diagnosis , Orbit/surgery , Puberty, Precocious , Endocrine System/pathology , HyperthyroidismABSTRACT
Se presenta el caso de una niña de 2 años 10 meses de edad con síndrome de Crouzón con luxación espontánea de globo ocular izquierdo, se realiza revisión de la literatura y se comentan los posibles errores diagnósticos
Subject(s)
Humans , Female , Child, Preschool , Exophthalmos , Craniofacial Dysostosis/complications , Joint Dislocations , Eye ManifestationsABSTRACT
Se presenta el caso de un niño de ascendencia mexicana de 4 años 8 meses de edad. El paciente más joven reportado en nuestro país, con síndrome de Vogt-Koyanagi-Harada. El cual presentó un cuadro de panuveítis bilateral severa que se complicó con catarata y glaucoma secundario, requiriendo de manejo médico y quirúrgico para mejorar su visión. Simultáneamente, presentó alopecia, vitiligo e hipoacusia, datos que en conjunto conformaron el diagnóstico de esta enfermedad
Subject(s)
Humans , Male , Child, Preschool , Cataract , Panuveitis/complications , Glaucoma , Uveomeningoencephalitic Syndrome/surgery , Uveomeningoencephalitic Syndrome/diagnosisABSTRACT
Las facomatosis son un grupo de enfermedades que afectan piel, sistema nervioso central, vasos sanguíneos y globo ocular. La mayoría de ellas se presentan desde la niñez. Para su diagnóstico es necesario un grupo multidisciplinario, incluyendo al oftalmólogo pediatra. En este estudio retrospectivo se encontraron las manifestaciones oculares más frecuentes que se observan en cada entidad. En la neurofibromatosis tipo 1, los nódulos de Lisch se observaron en 74 por ciento de los casos y neorofibroma plexiforme del párpado en 10 por ciento. En la esclerosis tuberosa el dato más frecuente fue la hipopigmentación de iris en el 10 por ciento de los pacientes. El glaucoma estuvo presente en 60 por ciento de los casos con síndrome de Sturge Weber. Por último en la ataxia telangiectasia el signo ocular relevante para el diagnóstico fue la telangiectasia conjuntival en 85 por ciento de los pacientes. No se registro ningún paciente con síndrome de von Hippel Lindau ni síndrome de Wyburn Mason
