Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations

METHODS. Eight patients-four diagnosed with retinitis pigmentosa (RP) and four with conerod dystrophy (CRD), carrying causal C8orf37 mutations-were clinically evaluated, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography (ERG), spectral-domain optical coherence tomography (SD-OCT), autofluorescence (AF) imaging, and fundus photography. RESULTS. In families A and D, respectively, one and three patients showed a classic RP phenotype with night blindness followed by concentric loss of visual field. Severe visual loss to light perception occurred early in the course of the disease. The symptoms initiated during infancy (family A) or adolescence (family D). Ophthalmoscopy revealed macular atrophy, bone spicules, attenuated vessels, and waxy pale optic discs. SD-OCT showed profound photoreceptor degeneration and AF demonstrated atrophy of the retinal pigment epithelium (RPE). ERG responses were nonrecordable in these patients. In families B and C, the patients were diagnosed with CRD. Initial symptoms were photophobia or loss of visual acuity and occurred during infancy (family B) or adolescence (family C). Ophthalmoscopy and AF revealed profound macular RPE atrophy and SD-OCT demonstrated macular photoreceptor degeneration. ERG responses were severely reduced in a cone-rod pattern or were nonrecordable. Interestingly, both patients in family B demonstrated polydactyly. CONCLUSIONS. Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive CRD or RP phenotype with early macular atrophy. The occurrence of postaxial polydactyly in one family suggests a syndromic phenotype, which may indicate C8orf37 has a ciliary function

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene

Item does not contain fulltextPURPOSE: To provide the clinical features in patients with retinal disease caused by C8orf37 gene mutations. METHODS: Eight patients--four diagnosed with retinitis pigmentosa (RP) and four with cone-rod dystrophy (CRD), carrying causal C8orf37 mutations--were clinically evaluated, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography (ERG), spectral-domain optical coherence tomography (SD-OCT), autofluorescence (AF) imaging, and fundus photography. RESULTS: In families A and D, respectively, one and three patients showed a classic RP phenotype with night blindness followed by concentric loss of visual field. Severe visual loss to light perception occurred early in the course of the disease. The symptoms initiated during infancy (family A) or adolescence (family D). Ophthalmoscopy revealed macular atrophy, bone spicules, attenuated vessels, and waxy pale optic discs. SD-OCT showed profound photoreceptor degeneration and AF demonstrated atrophy of the retinal pigment epithelium (RPE). ERG responses were nonrecordable in these patients. In families B and C, the patients were diagnosed with CRD. Initial symptoms were photophobia or loss of visual acuity and occurred during infancy (family B) or adolescence (family C). Ophthalmoscopy and AF revealed profound macular RPE atrophy and SD-OCT demonstrated macular photoreceptor degeneration. ERG responses were severely reduced in a cone-rod pattern or were nonrecordable. Interestingly, both patients in family B demonstrated polydactyly. CONCLUSIONS: Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive CRD or RP phenotype with early macular atrophy. The occurrence of postaxial polydactyly in one family suggests a syndromic phenotype, which may indicate C8orf37 has a ciliary function

Perfil bioquímico y estrés de los estudiantes de medicina en Universidad privada Antenor Orrego-Piura.

Introducción: En la actualidad los niveles de estrés son los que limitan gran parte de las actividades en el trabajo, sobre todo en poblaciones vulnerables. Nuestro objetivo fue determinar la asociación del perfil bioquímico y el estrés en estudiantes de medicina humana de la Universidad Privada Antenor Orrego-Piura. Material y Métodos: Estudio transversal analítico, se usó un muestreo no probabilístico por conveniencia de los resultados del examen médico que pasaron 132 estudiantes del 1ero-6to año de la Universidad Privada Antenor Orrego Piura en su proceso de matrícula 2013-II. Se utilizó el Inventario de Ansiedad Estado y Riesgo (State and Trait Anxiety Inventory-STAI) y los valores del perfil lipídico, hemoglobina, PCR y peso. Se usó el programa Stata 11,0 para el análisis estadístico uni y bivariado. Resultados: El 51% (78) fueron mujeres. El 11% (14) tuvo un puntaje de la escala STAI considerado como estrés moderado/severo; esto estuvo asociado al valor promedio de los trigilcéridos (estrés moderado/severo: 160 mg/dL y estrés leve/sin estrés: 126 mg/dL, valor p: 0,020), de la hemoglobina (estrés moderado/severo: 11,1 mg/dL y estrés leve/sin estrés: 12,6 mg/dL, valor p: <0,001) y del PCR positivo (estrés moderado/severo: 21% y estrés leve/sin estrés: 5%, valor p: 0,045). No se encontró asociación de los valores bioquímicos según el año de estudio, pero si con el peso del estudiante (p: 0,036). Conclusión: Algunos valores bioquímicos estuvieron altos en aquellos estudiantes de medicina que estuvieron más estresados, se deberían realizar estudios longitudinales para determinar si es que existe causalidad en la relación. &nbsp