Oral findings in Midline Syndrome: a case report and literature review

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital conditions, dental anomalies have only rarely been mentioned when reporting midline syndromes. These dental phenotypical traits, present in the patient and her family, could be considered part of the midline syndrome in carriers as well as in the patients.

Análisis de dos traducciones de la obra The Importance of Being Earnest, de Oscar Wilde

El siguiente trabajo consiste en el análisis de dos traducciones, una al catalán y otra al castellano, de la comedia The Importance of Being Earnest de Oscar Wilde. El análisis se centra en los aspectos más problemáticos de la traducción de esta obra

Proton Therapy for Uveal Melanoma in 43 Juvenile Patients: Long-Term Results.

PURPOSE: To examine the metastatic and survival rates, eye retention probability, and the visual outcomes of juvenile patients after proton beam radiotherapy (PBRT) for uveal melanoma (UM). DESIGN: Retrospective case-factor matched control study. PARTICIPANTS AND CONTROLS: Forty-three patients younger than 21 years treated with PBRT for UM were compared with 129 matched adult control patients. METHODS: Information on patient demographics and clinical characteristics were recorded before and after treatment from patients' files. The control group was composed of adult patients (>21 years) matched for tumor size (largest tumor diameter, ±2 mm; height, ±2 mm) and anterior margin location (iris, ciliary body, pre-equatorial or postequatorial choroid). For each juvenile patient, 3 adults were selected. MAIN OUTCOME MEASURES: Comparing outcomes of juvenile and adult patients in terms of metastatic and eye retention rates using the log-rank statistic, relative survival using the Hakulinen method, as well as their visual outcomes. RESULTS: Forty-three juvenile and 129 control cases were reviewed. The metastatic rate at 10 years was significantly lower in juvenile UM patients than in adult controls (11% vs. 34%; P <0.01), with an associated relative survival rate of 93% versus 65% (P = 0.02). Six juvenile patients (14%) demonstrated metastases. One patient underwent enucleation because of a presumed local tumor recurrence and 4 additional patients underwent enucleation because of complications (9.3%). In the adult control group, 27% (n = 35) of matched patients demonstrated metastases, there were 2 cases of local recurrence, and 16% (n = 21) underwent enucleation because of complications. A visual acuity of more than 0.10 was maintained in most cases, without any significant differences before or after treatment observed between both groups. CONCLUSIONS: After PBRT, metastatic and survival rates are significantly better for juvenile than for adult patients with UM. Clinically, juvenile and adult eyes react similarly to PBRT, with patients having a comparable eye retention probability and maintaining a useful level of vision in most cases. This is the largest case-control study of proton therapy in juvenile eyes to date and further validates PBRT as an appropriate conservative treatment for UM in patients younger than 21 years.

N-myc controls proliferation, morphogenesis, and patterning of the inner ear

Myc family members play crucial roles in regulating cell proliferation, size, and differentiation during organogenesis. Both N-myc and c-myc are expressed throughout inner ear development. To address their function in the mouse inner ear, we generated mice with conditional deletions in either N-myc or c-myc. Loss of c-myc in the inner ear causes no apparent defects, whereas inactivation of N-myc results in reduced growth caused by a lack of proliferation. Reciprocally, the misexpression of N-myc in the inner ear increases proliferation. Morphogenesis of the inner ear in N-myc mouse mutants is severely disturbed, including loss of the lateral canal, fusion of the cochlea with the sacculus and utriculus, and stunted outgrowth of the cochlea. Mutant cochleas are characterized by an increased number of cells exiting the cell cycle that express the cyclin-dependent kinase inhibitor p27Kip1 and lack cyclin D1, both of which control the postmitotic state of hair cells. Analysis of different molecular markers in N-myc mutant ears reveals the development of a rudimentary organ of Corti containing hair cells and the underlying supporting cells. Differentiated cells, however, fail to form the highly ordered structure characteristic for the organ of Corti but appear as rows or clusters with an excess number of hair cells. The Kölliker's organ, a transient structure neighboring the organ of Corti and a potential source of ectopic hair cells, is absent in the mutant ears. Collectively, our data suggest that N-myc regulates growth, morphogenesis, and pattern formation during the development of the inner ear.

Iowa Immunization Program Annual Report 2010, March 31, 2011

The Bureau of Immunization is part of the Division of Acute Disease Prevention and Emergency Response (ADPER) at the Iowa Department of Public Health (IDPH). The ADPER division provides support, technical assistance and consultation to local hospitals, public health agencies, community health centers, emergency medical service programs and local health care providers regarding infectious diseases, disease prevention and control, injury prevention and public health and health care emergency preparedness and response. The division encompasses the Center for Acute Disease Epidemiology (CADE), the Bureau of Immunization and Tuberculosis (ITB), the Bureau of Emergency Medical Services (EMS), the Bureau of Communication and Planning (CAP), the Office of Health Information Technology (HIT), and the Center for Disaster Operations and Response (CDOR). The Bureau of Immunization and Tuberculosis includes the Immunization Program, the Tuberculosis Control Program, and the Refugee Health Program. The mission of the Immunization Program is to decrease vaccine‐preventable diseases through education, advocacy and partnership. While there has been major advancement in expanding immunizations to many parts of Iowa’s population, work must continue with public and private health care providers to promote the program’s vision of healthy Iowans living in communities free of vaccine‐preventable diseases. Accomplishing this goal will require achieving and maintaining high vaccination coverage levels, improving vaccination strategies among under‐vaccinated populations, prompt reporting and thorough investigation of suspected disease cases, and rapid institution of control measures. The Immunization Program is comprised of multiple programs that provide immunization services throughout the state: Adolescent Immunization Program, Adult Immunization Program, Immunization Registry Information System (IRIS), Vaccines for Children Program (VFC), Perinatal Hepatitis B Program, and Immunization Assessment Program.

Iowa Immunization Program Annual Report 2011, February 20, 2012

The Bureau of Immunization is part of the Division of Acute Disease Prevention and Emergency Response (ADPER) at the Iowa Department of Public Health (IDPH). The ADPER division provides support, technical assistance and consultation to local hospitals, public health agencies, community health centers, emergency medical service programs and local health care providers regarding infectious diseases, disease prevention and control, injury prevention and public health and health care emergency preparedness and response. The division encompasses the Center for Acute Disease Epidemiology (CADE), the Bureau of Immunization and Tuberculosis (ITB), the Bureau of Emergency Medical Services (EMS), the Bureau of Communication and Planning (CAP), the Office of Health Information Technology (HIT), and the Center for Disaster Operations and Response (CDOR). The Bureau of Immunization and Tuberculosis includes the Immunization Program, the Tuberculosis Control Program, and the Refugee Health Program. The mission of the Immunization Program is to decrease vaccine‐preventable diseases through education, advocacy and partnership. While there has been major advancement in expanding immunizations to many parts of Iowa’s population, work must continue with public and private health care providers to promote the program’s vision of healthy Iowans living in communities free of vaccine‐preventable diseases. Accomplishing this goal will require achieving and maintaining high vaccination coverage levels, improving vaccination strategies among under‐vaccinated populations, prompt reporting and thorough investigation of suspected disease cases, and rapid institution of control measures. The Immunization Program is comprised of multiple programs that provide immunization services throughout the state: Adolescent Immunization Program, Adult Immunization Program, Immunization Registry Information System (IRIS), Vaccines for Children Program (VFC), Perinatal Hepatitis B Program, and Immunization Assessment Program.

Iowa Immunization Program Annual Report 2012, February 20, 2012

The Bureau of Immunization is part of the Division of Acute Disease Prevention and Emergency Response (ADPER) at the Iowa Department of Public Health (IDPH). The ADPER division provides support, technical assistance and consultation to local hospitals, public health agencies, community health centers, emergency medical service programs and local health care providers regarding infectious diseases, disease prevention and control, injury prevention and public health and health care emergency preparedness and response. The division encompasses the Center for Acute Disease Epidemiology (CADE), the Bureau of Immunization and Tuberculosis (ITB), the Bureau of Emergency Medical Services (EMS), the Bureau of Communication and Planning (CAP), the Office of Health Information Technology (HIT), and the Center for Disaster Operations and Response (CDOR). The Bureau of Immunization and Tuberculosis includes the Immunization Program, the Tuberculosis Control Program, and the Refugee Health Program. The mission of the Immunization Program is to decrease vaccine‐preventable diseases through education, advocacy and partnership. While there has been major advancement in expanding immunizations to many parts of Iowa’s population, work must continue with public and private health care providers to promote the program’s vision of healthy Iowans living in communities free of vaccine‐preventable diseases. Accomplishing this goal will require achieving and maintaining high vaccination coverage levels, improving vaccination strategies among under‐vaccinated populations, prompt reporting and thorough investigation of suspected disease cases, and rapid institution of control measures. The Immunization Program is comprised of multiple programs that provide immunization services throughout the state: Adolescent Immunization Program, Adult Immunization Program, Immunization Registry Information System (IRIS), Vaccines for Children Program (VFC), Perinatal Hepatitis B Program, and Immunization Assessment Program.

2014 Immunizations in Iowa, Iowa Immunization Program Annual Report, January 11, 2016

The Bureau of Immunization is part of the Division of Acute Disease Prevention and Emergency Response (ADPER) at the Iowa Department of Public Health (IDPH). The ADPER division provides support, technical assistance and consultation to local hospitals, public health agencies, community health centers, emergency medical service programs and local health care providers regarding infectious diseases, disease prevention and control, injury prevention and public health and health care emergency preparedness and response. The division encompasses the Center for Acute Disease Epidemiology (CADE), the Bureau of Immunization and Tuberculosis (ITB), the Bureau of Emergency Medical Services (EMS), the Bureau of Communication and Planning (CAP), the Office of Health Information Technology (HIT), and the Center for Disaster Operations and Response (CDOR). The Bureau of Immunization and Tuberculosis includes the Immunization Program, the Tuberculosis Control Program, and the Refugee Health Program. The mission of the Immunization Program is to decrease vaccine‐preventable diseases through education, advocacy and partnership. While there has been major advancement in expanding immunizations to many parts of Iowa’s population, work must continue with public and private health care providers to promote the program’s vision of healthy Iowans living in communities free of vaccine‐preventable diseases. Accomplishing this goal will require achieving and maintaining high vaccination coverage levels, improving vaccination strategies among under‐vaccinated populations, prompt reporting and thorough investigation of suspected disease cases, and rapid institution of control measures. The Immunization Program is comprised of multiple programs that provide immunization services throughout the state: Adolescent Immunization Program, Adult Immunization Program, Immunization Registry Information System (IRIS), Vaccines for Children Program (VFC), Perinatal Hepatitis B Program, and Immunization Assessment Program.

Exploration of the visual system: Part 1: Dissection of the mouse eye for RNA, protein, and histological analyses

Due to the power of genetics, the mouse has become a widely used animal model in vision research. However, its eyeball has an axial length of only about 2 mm. The present protocol describes how to easily dissect the small rodent eye post mortem. This allows collecting different tissues of the eye, i.e., cornea, lens, iris, retina, optic nerve, retinal pigment epithelium (RPE), and sclera. We further describe in detail how to process these eye samples in order to obtain high‐quality RNA for RNA expression profiling studies. Depending on the eye tissue to be analyzed, we present appropriate lysis buffers to prepare total protein lysates for immunoblot and immuno‐precipitation analyses. Fixation, inclusion, embedding, and cryosectioning of the globe for routine histological analyses (HE staining, DAPI staining, immunohistochemistry, in situ hybridization) is further presented. These basic protocols should allow novice investigators to obtain eye tissue samples rapidly for their experiments.

Systematic review protocol to define classical IgE-associated diseases from birth to adolescence: the MeDALL study

BACKGROUND: Classical disease phenotypes are mainly based on descriptions of symptoms and the hypothesis that a given pattern of symptoms provides a diagnosis. With refined technologies there is growing evidence that disease expression in patients is much more diverse and subtypes need to be defined to allow a better targeted treatment. One of the aims of the Mechanisms of the Development of Allergy Project (MeDALL,FP7) is to re-define the classical phenotypes of IgE-associated allergic diseases from birth to adolescence, by consensus among experts using a systematic review of the literature and identify possible gaps in research for new disease markers. This paper describes the methods to be used for the systematic review of the classical IgE-associated phenotypes applicable in general to other systematic reviews also addressing phenotype definitions based on evidence. METHODS/DESIGN: Eligible papers were identified by PubMed search (complete database through April 2011). This search yielded 12,043 citations. The review includes intervention studies (randomized and clinical controlled trials) and observational studies (cohort studies including birth cohorts, case-control studies) as well as case series. Systematic and non-systematic reviews, guidelines, position papers and editorials are not excluded but dealt with separately. Two independent reviewers in parallel conducted consecutive title and abstract filtering scans. For publications where title and abstract fulfilled the inclusion criteria the full text was assessed. In the final step, two independent reviewers abstracted data using a pre-designed data extraction form with disagreements resolved by discussion among investigators. DISCUSSION: The systematic review protocol described here allows to generate broad,multi-phenotype reviews and consensus phenotype definitions. The in-depth analysis of the existing literature on the classification of IgE-associated allergic diseases through such a systematic review will 1) provide relevant information on the current epidemiologic definitions of allergic diseases, 2) address heterogeneity and interrelationships and 3) identify gaps in knowledge.

Delivery of antisense oligonucleotide to the cornea by iontophoresis.

We wished to evaluate the potential of iontophoresis to promote the delivery of antisense oligonucleotides (ODN) directed at the vascular endothelial growth factor (VEGF)-R2 receptor (KDR/Flk) to the cornea of the rat eye. Fluorescence (CY5)-labeled ODNs in phosphate-buffered saline (PBS) (20 microM) were locally administered to rat eyes, and their fate within the anterior segment was studied. Thirty-four male, 5-week-old Wistar rats were used for all experiments. The rats were divided in four groups. In group I (12 rats, 12 eyes), the ODNs (20 microM) were delivered by iontophoresis (300 microA for 5 minutes) using a specially designed corneal applicator. In group II (12 rats, 12 eyes), the ODNs (20 microM) were delivered using the same applicator, but no electrical current was applied. In group III (6 rats, 6 eyes), a corneal neovascular reaction was induced prior to the application of ODNs (20 microM), and iontophoresis electrical current was delivered as for group I rats. Group IV (4 rats, 4 eyes) received ODN (60 microM) iontophoresis application (300 microA for 5 minutes) and were used for ODN integrity studies. The animals were killed 5 minutes, 90 minutes, and 24 hours after a single ODN application and studied. Topically applied ODNs using the same iontophoresis applicator but without current do not penetrate the cornea and remain confined to the superficial epithelial layer. ODNs delivered with transcorneoscleral iontophoresis penetrate into all corneal layers and are also detected in the iris. In corneas with neovascularization, ODNs were particularly localized within the vascular endothelial cells of the stroma. ODNs extracted from eye tissues 24 hours after iontophoresis remained unaltered. The iontophoresis current did not cause any detectable ocular damage under these conditions. Iontophoresis promotes the delivery of ODNs to the anterior segment of the eye, including all corneal layers. Iontophoresis of ODNs directed at VEGF-R2 may be used for the design of specific antiangiogenic strategy in diseases of the cornea.

T-Flux implant versus Healon GV in deep sclerectomy.

PURPOSE: To compare the efficacy and safety of T-Flux implant versus Healon GV in deep sclerectomy. METHODS: Randomized prospective trial of 23 eyes of 20 patients with medically uncontrolled open angle glaucoma over a period of 24 months, who underwent deep sclerectomy with either Healon GV or T-Flux implant. RESULTS: Mean postoperative intraocular pressure was 13.2 +/- 3.0 mm Hg with T-Flux implant (group 1) and 12.2 +/- 3.5 mm Hg with Healon GV (group 2), with a pressure reduction of 53.0% in group 1 (13.2 mm Hg vs. 28.1 mm Hg) and of 48.1% in group 2 (12.2 mm Hg vs. 23.5 mm Hg). Qualified and complete successes were 100% and 95.4% respectively. Pressures equal to or less than 15 mm Hg were 81.8% in group 1 and 90.9% in group 2 with or without treatment, and 63.6% in group 1 and 81.8% in group 2 without treatment. The number of glaucoma treatments dropped from 2.5 +/- 0.9 to 0.4 +/- 0.7 in group 1 and from 2.2 +/- 1.0 to 0.2 +/- 0.4 in group 2. The goniopuncture rate was 63.6% in group 1 and 36.4% in group 2, with a mean pressure drop of 6.1 +/- 3.9 mm Hg and 3.25 +/- 1.2 mm Hg respectively. Overall, slit-lamp diagnosed surgery-related complications included positive Seidel (13.6%), hyphaema (22.7%), choroidal detachment, and iris incarceration (4.5% each). At 2 years, ultrasound biomicroscopy showed mainly low reflective (40.1%) and flattened (36.4%) blebs. Principally latter ones were associated with the need for adjunctive treatment. A hypoechoic area in the suprachoroidal space was seen in at least 59.1% of eyes at 2 years and was not associated with lower intraocular pressure. CONCLUSION: Deep sclerectomy is an effective and safe surgery. However, longer follow up and larger study groups are required to assess the additional benefit of nonabsorbable implants.

Valoració de la suplementació proteica en el residents d'un geriàtric que presenten baixos nivells de proteïna sèrica

El percentatge de població major de 65 anys ha anat augmentant de forma considerable en els últims anys en tots els països desenvolupats. A Espanya, es preveu que a l'any 2020 aquest grup de població suposarà el 20% de la població total, amb un augment dels majors de 85 anys. Per a fer una correcta avaluació nutricional d'aquest grup poblacional cal conèixer els canvis fisiològics que es produeixen durant el procés d'envelliment, entre els quals trobem la disminució de la massa muscular magra (sarcoénia), que fins i tot pot anar acompanyada d'un excés de la massa grassa (obesitat sarcopénica).

Contribució al coneixement de la flora catalana occidental, III

En aquest treball s'aporten dades sobre la presència de nous tàxons a la plana occidental catalana, i que impliquen, en la majoria dels casos, ampliar de manera notable l'àrea de distribució de l'espècie. Són de destacar Cheirolophus intybaceus (Lam.) Dostál, Iris spuria L., Lathyrus annuus L., Phagnalon rupestre (L.) DC., Succisa pratensis Moench, Trigonella gladiata Steven ex Bieb. i Orchis laxiflora Lam. subsp. palustris (Jacq.) Bonnier & Layens.