CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.

Abnormal development of the ocular anterior segment may lead to a spectrum of clinical phenotypes ranging from primary congenital glaucoma (PCG) to variable anterior segment dysgenesis (ASD). The main objective of this study was to identify the genetic alterations underlying recessive congenital glaucoma with ASD (CG-ASD). Next-generation DNA sequencing identified rare biallelic CPAMD8 variants in four patients with CG-ASD and in one case with PCG. CPAMD8 is a gene of unknown function and recently associated with ASD. Bioinformatic and in vitro functional evaluation of the variants using quantitative reverse transcription PCR and minigene analysis supported a loss-of-function pathogenic mechanism. Optical and electron microscopy of the trabeculectomy specimen from one of the CG-ASD cases revealed an abnormal anterior chamber angle, with altered extracellular matrix, and apoptotic trabecular meshwork cells. The CPAMD8 protein was immunodetected in adult human ocular fluids and anterior segment tissues involved in glaucoma and ASD (i.e., aqueous humor, non-pigmented ciliary epithelium, and iris muscles), as well as in periocular mesenchyme-like cells of zebrafish embryos. CRISPR/Cas9 disruption of this gene in F0 zebrafish embryos (96 hpf) resulted in varying degrees of gross developmental abnormalities, including microphthalmia, pharyngeal maldevelopment, and pericardial and periocular edemas. Optical and electron microscopy examination of these embryos showed iridocorneal angle hypoplasia (characterized by altered iris stroma cells, reduced anterior chamber, and collagen disorganized corneal stroma extracellular matrix), recapitulating some patients' features. Our data support the notion that CPAMD8 loss-of-function underlies a spectrum of recessive CG-ASD phenotypes associated with extracellular matrix disorganization and provide new insights into the normal and disease roles of this gene.

Development of a concise clinical index for predicting chronic chikungunya arthritis.

OBJECTIVE: To evaluate the performance of an instrument for predicting chronic chikungunya arthritis (CCA) in adult patients. METHODS: A diagnostic test study was conducted and data from 217 confirmed cases of chikungunya virus (CHIKV) illness were analyzed. Two chronic chikungunya arthralgia scales (3-item CCAS-3 and 4-item CCAS-4) were constructed. RESULTS: Modest performance of the CCAS-3 scale was documented at the two given cut-off points. A CCAS-4 score ≥3 showed high sensitivity and specificity for predicting the persistence of CCA at 12 months after acute disease. CONCLUSIONS: If replicated in other populations, these results could be useful in the medical management of patients with symptomatic CHIKV infection.

Morphologic differences observed by scanning electron microscopy according to the reason for pseudophakic IOL explantation.

PURPOSE: To compare variations in surface morphology, as studied by scanning electron microscopy (SEM), of explanted intraocular lenses (IOLs) concerning the cause leading to the explantation surgery. METHODS: In this prospective multicenter study, explanted IOLs were analyzed by SEM and energy-dispersive X-ray spectroscopy. The IOLs were explanted in the centers of the research group from 2006 to 2012. The primary procedure was phacoemulsification in all cases. RESULTS: The study evaluated 40 IOLs. The main causes for explantation were IOL dislocation, refractive error, and IOL opacification. Those explanted due to dislocation demonstrated calcifications in 8 lenses (50%), salt precipitates in 6 cases (37.5%), and erythrocytes and fibrosis/fibroblasts in 2 cases (12.5%). In the refractive error cases, the SEM showed proteins in 5 cases (45.5%) and salt precipitates in 4 lenses (36.4%). In IOL opacification, the findings were calcifications in 2 of the 3 lenses (66.6%) and proteins in 2 lenses (66.6%). CONCLUSIONS: A marked variation in surface changes was observed by SEM. Findings did not correlate with cause for explantation. Scanning electron microscopy is a useful tool that provides exclusive information regarding the IOL biotolerance and its interactions with surrounding tissues.

Novel biodegradable polyesteramide microspheres for controlled drug delivery in Ophthalmology.

Most of the posterior segment diseases are chronic and multifactorial and require long-term intraocular medication. Conventional treatments of these pathologies consist of successive intraocular injections, which are associated with adverse effects. Successful therapy requires the development of new drug delivery systems able to release the active substance for a long term with a single administration. The present work involves the description of a new generation of microspheres based on poly(ester amide)s (PEA), which are novel polymers with improved biodegradability, processability and good thermal and mechanical properties. We report on the preparation of the PEA polymer, PEA microspheres (PEA Ms) and their characterization. PEA Ms (~15µm) were loaded with a lipophilic drug (dexamethasone) (181.0±2.4µg DX/mg Ms). The in vitro release profile of the drug showed a constant delivery for at least 90days. Based on the data from a performed in vitro release study, a kinetic ocular model to predict in vivo drug concentrations in a rabbit vitreous was built. According to the pharmacokinetic simulations, intravitreal injection of dexamethasone loaded PEA microspheres would provide release of the drug in rabbit eyes up to 3months. Cytotoxicity studies in macrophages and retinal pigment epithelial cells revealed a good in vitro tolerance of the microsystems. After sterilization, PEA Ms were administered in vivo by subtenon and intravitreal injections in male Sprague-Dawley rats and the location of the microspheres in rat eyes was monitored. We conclude that PEA Ms provide an alternative delivery system for controlling the delivery of drugs to the eye, allowing a novel generation of microsphere design.

Coexistence of obesity and anemia in children between 2 and 18 years of age in Mexico

Background. According to the most recent national nutrition survey (ENSANUT 2006) in Mexico, 18.4% of the population aged 5 years or older was obese, and 19.6% of those children aged 1 year or older were anemic. Although these are two of the most highly prevalent conditions, coexistence of both conditions has not been previously described at the national level. Methods. We carried out a secondary data analysis to determine the frequency of anemia in different categories of body mass index (BMI) and the frequency in which obesity and anemia co-occurred in children between 2 and 18 years of age. We included data from 29,893 children <18 years of age. Results. The highest prevalence of anemia was found among children with low BMI (13.1%), whereas in obese children the corresponding prevalence was 9.6%. Only 1.3% of children presented obesity and anemia, and its coexistence was observed mainly in children <5 years of age (p = 0.001). Being female and being <9 years of age were the two factors significantly associated with the phenomenon under study. Conclusions. The risk for coexistence of obesity and anemia varied according to the gender and age of the children. Integral nutrition education programs are required to simultaneously address both of these issues.

Dermatosis por medicamentos: relación de 169 casos revisados en 3 años / Dermatosis induced by drugs: relation of 169 cases revised in 3 years

Se comunica la frecuencias de farmacodermias en el Instituto Dermatológico Guanajuatense de Irapuato, Gto. La incidencia fue de 2.2 por ciento en relación con otras dermatosis. Los medicamentos responsables con más frecuencia fueron el piroxicam, corticoesteroides y dimetilpirazolona. Se encontraron 11 formas clínicas diferentes; las más comunes: fotosensibilización, dermatosis acneiformes, urticaria y eritema pigmentado fijo

Manifestaciones cutáneas en la insuficiencia renal crónica: estudio de 97 pacientes tratados con diálisis peritoneal ambulatoria / Skin disorders in chronic renal failure. A study of 97 patients with ambulatory peritoneal dialysis

Todos los pacientes presentaron por lo menos una manifestación dermatológica. Los cambios de coloración fueron los más frecuentes. No ha sido reportada la hiperpigmentación de salientes óseas que observamos en el 38 por ciento de los casos. En el 76 por ciento se encontró xerosis, infecciones en el 66 por ciento, dermopatía diabética en 32 por ciento, prurito en 50 por ciento, queilitis en 17.52 por ciento, uñas mitad y mitad en 28 por ciento y sólo un caso de foliculitis urémica

Lepra tuberculoide reaccional versus reacción de reversa: comentarios a propósito de tres casos desencadenados por la politerapia / Reactional tuberculoid leprosy versus reversal reaction: comments apropos of 3 cases developped by multitherapy

La lepra tuberculoide reaccional (reacción de reversa es una entidad clínica poco frecuente en la práctica leprológica. Se presentan tres casos desencadenados por el tratamiento y se comentan las características de los pacientes

Cirugía refractiva y reconocimiento médica para vuelo / Refractive surgery and flight medical check

Debido a la gran importancia de la visión en el medio aeronáutico, la legislación vigente es bastante restrictiva en cuanto a los requisitos establecidos en el apartado de oftalmología de los reconocimientos médicos que se exigen al personal con responsabilidad de vuelo, tanto inicialmente a su ingreso, como pare revalidar su aptitud con periodicidad. El desarrollo de nuevas técnicas en la corrección quirúrgica de los errores de refracción, supone la necesidad de actualizar dicho marco legal, que de continuo queda obsoleto. Se realiza una revisión bibliográfica sobre la cirugía refractiva y las condiciones especiales del medio aeronáutico, principalmente las ocasionadas por la hipoxia y la altitud, poniendo de manifiesto que éstas pueden producir ligeras desviaciones de la refracción hacia la miopía o hipermetropía, dependiendo de la técnica quirúrgica empleada (AU)

Due to the fact that the vision in aeronautical environment is very important, the current legislation is quite restrictive for initial and periodical medical test for the flight personnel, as far as the requirements in the ophthalmologic area are concerned (initial and periodical tests). The development of new techniques on the surgical correction of refraction errors means the review of the current legislation and its continuous update. The bibliography about refractive surgery and its special conditions in the aeronautical environment, mainly those produced by hypoxia, is reviewed. Depending on which surgical technique you use, slight refraction changes towards myopia and hyperopia can be produced by hypoxia (AU)

Micetomas en el estado de Guanajuato / Mycetoma in the Guanajuato state

Se comunican 50 casos de micetoma procedentes del estado de Guanajuato, México. En 92 por ciento se presentaron en las extremidades inferiores. Se originaron por Nocardia en 54 por ciento, por Actinomadura madurae en 42 por ciento y por S. somaliensis en 2 por ciento. La frecuencia de micetoma por A. madurae en Guanajuato es la más alta en México, sobre todo en la parte sur del Estado y con predominio en mujeres en 71 por ciento