Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report

We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder.     

Calidad de vida en personas con depresión y comorbilidad física desde una perspectiva de género

ObjetivoEl objetivo del estudio es describir la percepción de la calidad de vida relacionada con la salud de personas con depresión y comorbilidad física bajo una perspectiva de género. Se incluyeron 380 individuos mayores de 49 años con, al menos, una patología de las siguientes: diabetes, enfermedad obstructiva pulmonar crónica y cardiopatía isquémica, reclutadas en 31 equipos de atención primaria de Cataluña. La calidad de vida se midió con la escala EuroQol (EQ-5D). Además, se recogieron variables sociodemográficas, gravedad de depresión, índice de privación económica y ámbito de residencia. Se evaluó la relación ajustada entre el sexo y las dimensiones de calidad de vida, mediante una regresión logística multivariante.ResultadosEl 81,3% fueron mujeres; la media de edad fue de 68,4 años (DE: 8,8), La media de la escala visual analógica fue de 57,8 (DE: 17,4) en hombres y 55,8 (DE: 18,6) en mujeres. La media del EQ-Health Index fue de 0,74 (DE: 0,17) en hombres y 0,65 (DE: 0,21) en mujeres (p = 0,001). La probabilidad de presentar problemas en las dimensiones del EQ-5D mostró el sexo como factor de más peso (mujer = 1/hombre = 0) en: autocuidado OR: 2,29 (IC 95% 1,04 a 5,07) y actividades cotidianas OR: 3,09 (IC 95% 1,67 a 5,71). La movilidad se asoció con la edad OR: 1,87 (IC 95% 1,22 a 2,86), el ámbito de residencia con el dolor OR: 2,51 (IC 95% 1,18 a 5,34) y el Beck Depression Inventory (BDI) con la ansiedad/depresión OR: 4,77 (IC 95% 1,77 a 12,88).ConclusiónLa percepción en la calidad de vida de las mujeres con depresión y comorbilidad física es inferior a la de los hombres, siendo en ambos casos inferior a la de población general.Palabras clave: Calidad de vida, Depresión, Comorbilidad física, Género, Atención Primaria     

Uncommon causes of nerve compression in the distal forearm

IntroductionNerve compression by anomalous masses located at the wrist and distal forearm is an infrequent condition. They may compress underlying structures in the carpal tunnel region, causing pain and paresthesias, which leads to the wrong diagnosis of carpal tunnel syndrome.Clinical casesWe present three cases of patients with symptomatology and clinical tests compatible with compression of the median nerve in the carpal tunnel but whose physical examination showed a soft mass in the distal region of the forearm which was compressing the median nerve, as demonstrated by ultrasound evaluation.DiscussionThe reported cases of accessory muscles or lipomas described in the literature as causes of median nerve compression clinic are mainly described only after the surgical decompression of the carpal tunnel, due to the maintenance of residual symptoms.ConclusionCareful examination with an ultrasound evaluation prior to surgery may help to identify these cases and help planning surgical treatment.     

El Registro de Gemelos de Murcia. Un recurso para la investigación sobre conductas relacionadas con la salud

Genetically informative designs and, in particular, twin studies, are the most widely used methodology to analyse the relative contribution of genetic and environmental factors to inter-individual variability. These studies basically compare the degree of phenotypical similarity between monozygotic and dizygotic twin pairs. In addition to the traditional estimate of heritability, this kind of registry enables a wide variety of analyses which are unique due to the characteristics of the sample. The Murcia Twin Registry is population-based and focused on the analysis of health-related behaviour. The observed prevalence of health problems is comparable to that of other regional and national reference samples, which guarantees its representativeness. Overall, the characteristics of the Registry facilitate developing various types of research as well as genetically informative designs, and collaboration with different initiatives and consortia.     

Effect of iron on bovine enamel and on the composition of the dental biofilm formed "in situ"

OBJECTIVES: This study investigated in situ the effect of iron (Fe) on the reduction of demineralization of bovine enamel, as well as on the composition of dental biofilm. DESIGN AND METHODS: Twelve volunteers were included in this blind crossover study, which was conducted in two stages of 14 days each. For each stage, the volunteers received palatal appliances containing four blocks of bovine enamel (4 mm x4 mm x 2.5 mm). Six volunteers dripped a solution of 15 mmol L(-1) ferrous sulphate onto the fragments and the remaining six dripped deionized water (eight times per day). After five minutes, a fresh 20% (w/v) sucrose solution was dripped onto all enamel blocks. During the experimental period the volunteers brushed their teeth with non-fluoridated dentifrice. After each stage, the percentage of surface microhardness change (%SMHC) and area of mineral loss (DeltaZ) were determined on enamel and the dental biofilm formed on the blocks was collected and analysed for F, P, Ca, Fe and alkali-soluble carbohydrates. The concentrations of F, Ca and Fe in enamel were also analysed after acid biopsies. RESULTS: There was a statistically significant increase in the P and Fe concentrations in the biofilms treated with ferrous sulphate (p<0.05), which was not observed for F, Ca and alkali-soluble carbohydrates. The group treated with ferrous sulphate had significantly lower %SMHC and DeltaZ when compared to control (p<0.05). CONCLUSIONS: These results showed that ferrous sulphate reduced the demineralization of enamel blocks and altered the ionic composition of the dental biofilm formed in situ.     

Microhardness of resin-based materials polymerized with LED and halogen curing units

The purpose of this study was to evaluate the microhardness of resin-based materials polymerized with a LED (light-emitting diode) light-curing unit (LCU) and a halogen LCU. Twenty cylindrical specimens (3.0 mm in diameter and 2.0 mm high) were prepared for each tested material (Z100, Definite and Dyract). Specimens were light-cured with two LCUs (Ultraled and Curing Light 2500) for either 40 or 60 s on their top surfaces. Hardness was measured on top and bottom surfaces of each specimen. Statistical analysis was done by ANOVA and Tukey's test (p<0.05). There was no significant difference in hardness between LED LCU and halogen LCU for Z100 and Dyract on top surface. Conversely, lower hardness was recorded when Definite was light-cured with the LED LCU than with the halogen lamp. On bottom surface, hardness was significantly lower for all materials light-cured with LED LCU. Z100 was harder than Dyract and Definite regardless of the light curing unit. There was no significant difference in hardness between the exposure times on top surface. Higher hardness was obtained when the materials were light-cured for 60 s on bottom surface. The tested LED was not able to produce the same microhardness of resin-based materials as the halogen LCU.