Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.

PURPOSE: To describe the clinical and genetic characteristics (novel mutation in BEST1 gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB). METHODS: The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system. RESULTS: A 55-year-old male presented with a BCVA of 20/25 in the right eye and 20/20 in the left eye. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence results were consistent with pattern dystrophy. A homozygous frameshift mutation in BEST1 (c.341_342del; p.(Leu114Glnfs*57)) was identified as the cause of the disease. CONCLUSION: ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease.

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.

Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gene and cell therapies hold promise for treating this degenerative disease. However, lack of understanding and incomplete comprehension of disease's mechanism and the role of EYS in the healthy retina are critical limitations for the translation of current technical advances into real therapeutic possibilities. This review recapitulates the present knowledge about EYS-retinopathies, their clinical presentations and proposed genotype-phenotype correlations. Molecular details of the gene and the protein, mainly based on animal model data, are analysed. The proposed cellular localisation and roles of this large multi-domain protein are detailed. Future therapeutic approaches for EYS-retinopathies are discussed.

Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene.

Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of the donor, affected of a perifoveal-bilateral macular dystrophy includes one frameshift deletion and one hypomorphic allele. ESi082-A cell line has been characterized for pluripotency and will be used to prepare retinal cellular models to study the dysfunction leading to the disease.

Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.

Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family. Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent comprehensive eye examinations for best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, retinal fluorescein angiography (FA), and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant genes (SureSelect Focused Exome, Agilent) was performed using the Illumina HiSeq 3000 system. Candidate variants were validated and segregated by Sanger sequencing. Results: The affected siblings had bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy, ERG, and FA results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer. Our data analysis pipeline identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs*25). Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome.

Generation of a human iPS cell line (CABi003-A) from a patient with age-related macular degeneration carrying the CFH Y402H polymorphism.

Age-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized by progressive degeneration of the macula, the central region of the retina. A human induced pluripotent stem cell (hiPSC) line was derived from peripheral blood mononuclear cells (PBMCs) from a patient with a clinical diagnosis of dry AMD carrying the CFH Y402H polymorphism. Sendai virus was using for reprogramming and the pluripotent and differentiation capacity of the cells were assessed by immunocytochemistry and RT-PCR.

Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation.

Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a heterozygous double mutation in EYS gene was generated by non-integrative reprogramming technology, using hOCT3/4, hSOX2, hc-MYC and hKLF4 reprogramming factors. Pluripotency and differentiation capacity were assessed by immunocytochemistry and RT-PCR. This iPSC line can be further differentiated towards the affected cells to understand the pathophysiology of the disease and test new therapeutic strategies.

Avaliação do desempenho de enfermagem em um programa de previdência social / Evaluation of nursing performance in a social security program

Resumo Objetivo Avaliar o desempenho da enfermagem no controle do diabetes de pacientes ambulatoriais do IMSS (Instituto Mexicano de Seguro Social) - hospital Prospera número 44 em Tamazunchale, San Luis Potosi, México. Métodos Estudo quantitativo, transversal e descritivo, com amostra de 30 enfermeiros recrutados de agosto de 2014 a abril de 2015. Foi utilizado um guia de observação de desempenho que avaliou as funções administrativas, assistenciais, de ensino e de comunicação. O desempenho foi classificado como bom, razoável e ruim por meio de estatísticas descritivas. Resultados Um total de 93.3% da amostra consistiu de mulheres, auxiliares de enfermagem certificadas; 70% com estudo de nível técnico. As medidas globais das funções administração, assistencial, de ensino e de comunicação indicaram que 6,7% apresentaram desempenho bom, 40% desempenho razoável e 53,3% desempenho ruim. Conclusão As funções de cuidar e ensinar mostraram oportunidades significativas para melhorar o autocuidado ao paciente. A avaliação do desempenho de enfermagem forneceu evidências para a gestão dos serviços no programa de diabetes.

Abstract Objective To evaluate nursing performance in the control of diabetic outpatients of the IMSS (Instituto Mexicano del Seguro Social [Mexican Social Security Institute])-Prospera hospital number 44 in Tamazunchale, San Luis Potosi, Mexico. Methods This quantitative, descriptive, cross-sectional study consisted of a sample of 30 nurses recruited from August 2014 to April 2015. A performance observation guide that evaluated administrative, care, teaching, and communication functions was used. Performance was classified as good, fair, and poor by means of descriptive statistics. Results A total of 93.3% of the sample consisted of female certified nurse assistants, 70% with studies at the technician level. The overall measurements of the administrative, care, teaching, and communication functions indicated that 6.7% presented good performance, 40% fair performance, and 53.3% poor performance. Conclusion Care and teaching functions show significant opportunities for improving patient self-care. Nursing performance evaluation provides evidence for the management of services in the diabetes program.

[Acute abdomen with actinomycosis of the colon: A case report]. / Abdomen agudo por actinomicosis con afección colónica: reporte de un caso.

BACKGROUND: Actinomyces infection is a chronic inflammatory process that can sometimes, clinically and radiographically, closely mimic a malignant tumour, which may lead to giving a delayed or inappropriate treatment. CLINICAL CASE: Male 41 years old, with no previous history, with abdominal pain of one month onset, as well as weight loss, intermittent fever and diarrhoea. He developed acute abdomen and underwent surgery, finding a tumour in the distal ileum with necrosis and punctiform perforations. A resection was performed on the affected part of the ileum and colon, as well as an ileostomy using Hartmann's procedure. CONCLUSIONS: Actinomycosis is a disease that must be considered by the surgeon when faced with a clinical picture of subacute onset with intermittent fever, weight loss, abdominal pain, and even anaemia in patients with abdominal and retroperitoneal abscesses or previous history of surgery.

Chemical composition and anti-inflammatory activity of the volatile fractions from the bark of eight Mexican Bursera species.

The volatile fractions from the bark of eight species of Mexican Bursera were obtained using steam distillation and were subjected to tandem GC-MS analysis for identification of the main constituents. The most abundant components of steam volatiles were monoterpenoids from which alpha-terpineol, terpinen-4-ol, alpha-thujene, linalool and limonene were most frequently isolated. A series of sesquiterpenes and long-chain hydrocarbons were isolated and identified from the barks of some of the studied species . Some volatiles were assayed for anti-inflammatory activity using the TPA-induced ear edema bioassay in mice. The volatile fraction from Bursera lancifolia was about half as active as indomethacin.