Enfermedad de Darier white: Reporte de caso y relación con enfermedades neuropsiquiátricas / Darier white disease: Case report and relationship with neuropsychiatric diseases

La enfermedad de Darier White es una enfermedad autosómica dominante, de penetrancia completa con expresividad variable que afecta al cromosoma 12q23-24.1. Se caracteriza por manifestaciones dermatológicas como: placas o pápulas no foliculares en zonas seborreicas, que tienen un olor característico. La presente investigación busca presentar reportes de casos de dos pacientes, en un Hospital Universitario en Bogotá-Colombia y la relación que existe con enfermedades psiquiátricas, tales como: trastorno afectivo bipolar y retraso mental. Se realizó una historia clínica y examen físico completo. Posteriormente, se firmó un consentimiento informado para toma de fotos y uso de las mismas, con fines educativos. Con estos elementos, se buscó información en las bases de datos más requeridas hoy en día, como: Pubmed, Science Direct, Embase y Scielo utilizando búsquedas con palabras claves, relacionando enfermedad de Darier White y enfermedades psiquiátricas en general. Consecutivamente, se buscó información de trastorno afectivo bipolar y retraso mental. En definitiva se enfocó cada uno de los casos descritos, como enfermedad de Darier con la asociación clínica de enfermedades psiquiátricas, en relación con el trastorno afectivo bipolar y retraso mental, con los que esta enfermedad muestra una relación estrecha.

Darier White or dyskeratosis follicularis disease is a genetic disorder of autosomal dominant trait, affecting chromosome 12q23-24.1. It starts at first or second decade of life, it is characterized by cutaneous manifestations due to several hyperkeratotic papules that affect seborrheic areas such as head, neck and thorax. This article seeks to present reports of cases of two patients in a Hospital in Bogotá-Colombia and their relationship with psychiatric illnesses such as bipolar affective disorder and mental retardation. A complete clinical history was made, the patients were examined, and informed consent was signed for taking pictures and using them for educational purposes. With this information, we proceeded to look for bibliography in the most recognized databases such as: Pubmed, Science Direct, Embase using advanced searches with key words, related words like Darier White disease and its relationship with psychiatric illnesses in general. Finally, each of the cases described as Darier's disease was approached with the clinical association of psychiatric illnesses such as bipolar affective disorder and mental retardation, with which this disease shows a close relationship in relation to the percentages of presentation.

Long-term adherence to topical psoriasis treatment can be abysmal: a 1-year randomized intervention study using objective electronic adherence monitoring.

BACKGROUND: Most people with psoriasis have limited disease that could be treated with topicals, but topical efficacy is limited by low short-term adherence. Psoriasis is a chronic disease, and long-term adherence is an even bigger problem. OBJECTIVES: To determine how well medication is used in the long-term topical treatment of psoriasis and to assess the potential of an internet-based reporting intervention to improve treatment adherence and outcomes. METHODS: An investigator-blinded, prospective study evaluated topical fluocinonide adherence in 40 patients with mild-to-moderate psoriasis over 12 months. Subjects were randomized in a 1 : 1 ratio to standard-of-care or internet-based reporting group. Adherence was objectively monitored with Medication Event Monitoring System® caps. RESULTS: Fifty per cent of subjects discontinued the treatment. Greater adherence was seen in the intervention group compared with the standard-of-care group (50% vs. 35%, P = 0·08). Psoriasis Area and Severity Index improved more in the intervention group at month 1 (1·61 vs. -0·12, P = 0·003), month 3 (2·50 vs. 0·79, P = 0·025) and month 12 (3·32 vs. 0·34, P = 0·038) than in the standard-of-care group. CONCLUSIONS: This study likely underestimates the challenge of long-term adherence, as adherence tends to be better in research studies than in clinical practice. This study also did not fully account for primary nonadherence. Adherence to topical treatment is low in the short term and decreased further in the long term, a considerable challenge for dermatologists to address. A reporting intervention may be one of the ways we can improve our patients' treatment outcomes.

Entrance and propagation pattern of high-frequency electrical currents in biological tissues as applied to fractional skin rejuvenation using penetrating electrodes.

BACKGROUND: Fractional resurfacing of the skin using radiofrequency devices has been used for collagen remodeling and rejuvenation. OBJECTIVES: To determine how radiofrequency current enters and propagates through tissue, and the pattern of the resulting effect. MATERIALS AND METHODS: An electrosurgical device with a 0.4 MHz frequency output was used as the source of radiofrequency current. Current was applied via a metallic needle introduced into a large piece of cow liver, with different amounts of energy delivered at multiple points. Cross-sections of the liver were then studied for tissue effect. RESULTS: Thermal coagulation of tissue started from the tip of the electrode. With higher energy, a rim of coagulated tissue formed around the entire length of the needle. This rim of coagulated tissue was thicker around the tip of the electrode. CONCLUSION: Radiofrequency currents have a tendency to move toward the center of the bulk of tissue. When an electrode of a fractional radiofrequency device enters the skin, maximum heating effect will be around the tip of the electrode in the dermis. This phenomenon can preserve epidermis from injury during dermal heating, reducing post-procedural skin surface side effects seen with many skin rejuvenation procedures.

Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra-rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), resulting in diminished enzyme function and reduced sialic acid biosynthesis. A founder variant GNE p.M712T was first described in patients of Iranian and Middle-Eastern descent living outside of Iran. Asymptomatic heterozygote or carrier frequency has been reported as high as 1 in 11 within the Persian-Jewish community residing in Los Angeles, CA. To investigate the prevalence of the p.M712T variant in Iran, we studied 792 samples collected from random individuals in Sangesar (Mahdishahr) in Northern Iran. DNA samples were obtained by buccal swab, and genotyping was performed by melting curve analysis. The results included 31 of 792 (3.91%) heterozygous carriers and 5 (0.31%) homozygotes for GNE p.M712T. All five homozygous individuals, age 30-64 years, were already symptomatic at the start of the study. Our findings suggest that the prevalence of GNE p.M712T is higher in the Sangesar population, comprised mostly of Muslim and Bahai descendants, compared with the general world population. Additional HIBM distribution studies are warranted within various subpopulations of Iran.

Healthier oils stabilized in konjac matrix as fat replacers in n-3 PUFA enriched frankfurters.

Nutritional, sensory and technological properties of frankfurters as affected by reformulation processes designed to reduce fat content and improve fatty acid profile were investigated. Healthier oils stabilized in oil in water emulsion or in konjac matrix gel were used as fat replacers. Results showed that improved fat content by the replacement of pork backfat with konjac gel and by the addition of healthier oils stabilized by various different systems, both resulted in products with very similar characteristics. From a nutritional standpoint, reformulated frankfurters with konjac gel and/or added a healthier oil combination may claim "reduced fat content" and/or "high omega 3 fatty acid content" according to European Regulation, since they could contain less than 30% of the fat in the reference product and more than 0.6 g of ALA/100 g and more than 80 mg of the sum of EPA plus DHA per 100 g, respectively. Chill storage over 40days generally had little effect on the technological characteristics of frankfurters.

Phytoavailability of antimony and heavy metals in arid regions: the case of the Wadley Sb district (San Luis, Potosí, Mexico).

This paper presents original results on the Sb and heavy metals contents in sediments and waste tailings, plants and water from the giant Wadley antimony mine district (San Luis Potosí State, Mexico). The dominant antimony phases in mining wastes are stibiconite, montroydite and minor hermimorphite. The waste tailings contain high concentrations of metals and metalloids (antimony, iron, zinc, arsenic, copper, and mercury). Manganese, copper, zinc, and antimony contents exceed the quality guidelines values for groundwater, plants and for waste tailings. Results indicate that peak accumulation is seasonal due to the concentration by high metabolism plants as Solanaceae Nicotiana. The metal phytoavailability in waste tailings is highly dependant on the metal speciation, its capability to be transported in water and, more particularly, the plant metabolism efficiency.

[Compartmental syndrome of the thigh and Morel-Lavallée lesion]. / Síndrome compartimental de muslo y lesión de Morel-Lavallée.

Serious soft tissue lesions in patients with high energy trauma are usually underdiagnosed. They are considered as true surgical emergencies that, without an early diagnosis and treatment, lead to high morbidity and mortality rates. We report herein the case of a patient who sustained a high energy lesion and developed compartmental syndrome of the thigh associated with a Morel-Lavallée lesion, including the therapeutic approach used and the results obtained.

Vasoactive and antioxidant activities of plants used in Mexican traditional medicine for the treatment of cardiovascular diseases.

This study demonstrated that the aqueous extracts of plants employed in Mexican traditional medicine for the treatment of cardiovascular diseases are able to modify the tone of arterial smooth muscle. Agastache mexicana (Kunth) Lint & Epling (Labiatae), Chenopodium murale L. (Chenopodiaceae), Chirantodendron pentadactylon Larreat (Sterculiaceae), Dracocephalum moldavica L. (Labiatae), Psittacanthus calyculatus G. Don (Loranthaceae), Prunus serotina ssp. capuli (Cav. ex Spreng) McVaugh (Rosaceae), and Sechium edule Sw. (Cucurbitaceae) contain secondary metabolites that promote vascular relaxation and display antioxidant activities. As expected, their antioxidant effects showed a significant correlation with the polyphenolics content. However, a lower correlation was found between the antioxidant activity and the maximum vasodilatory effect, suggesting that the vasodilatation elicited by the plant extracts could be only partly attributed to their antioxidant properties. The extract of P. calyculatus, which displayed a maximum vasorelaxant effect that was higher than that of acetylcholine, induced endothelium-dependent vasodilatation. Futhermore, the vasorelaxant response to the P. calyculatus extract was reduced after adding an inhibitor of soluble guanylate cyclase activity, providing evidence that the NO/cGMP pathway is involved. On the other hand, the extracts of Bocconia frutescens L. (Papaveraceae), Magnolia grandiflora L. (Magnoliaceae), and Solanum rostratum Dunal (Solanaceae) induced concentration-dependent contraction of rat aortic rings, suggesting that these plants have potential health benefits for the treatment of ailments such as venous insufficiency. The pharmacological activities of the extracts studied provide scientific support for their ethnomedical use.

Prostatic profile, premature ejaculation, erectile function and andropause in an at-risk Mexican population.

OBJECTIVE: To determine the frequency of prostatic symptomatology, premature ejaculation (PE), erectile function, symptoms in the older adult/andropause assessment and to determine the risk factors involved. MATERIALS AND METHODS: The study was conducted by the Mexican Society of Urology and was carried out from June to October 2006. Epidemiological information was obtained through the completion of four validated questionnaires by patients receiving non-institutional urology treatment. The large database was statistically analyzed using a logistic regression model. RESULTS: A total of 1,779 men with an average age of 56.6 years were included in the study. The average prostate-specific antigen value in the sample was 1.73 (n = 1,316). Prostatic symptomatology in accordance with the international prostate symptom score was 7.96 points. A total of 41.9% of participants reported experiencing PE. The average time to reach ejaculation was 10.97 min. Of the participating individuals, 39.5% were diagnosed with andropause. Prostatic symptomatology was associated with risk factors of age and prostatitis, P < 0.01. Premature ejaculation and erectile dysfunction were associated with age, P < 0.01. Vasomotor problems in the older adult were identified with an association tendency towards alcoholism and excess weight, P < 0.063, but without statistical significance. Sexual problems in the older adult were associated with diabetes mellitus, P < 0.01. Andropause was associated with traumatic problems in general.

Patrones normales de potenciales evocados auditivos del tallo cerebral (PEATC) en recién nacidos sanos / Normal patterns of auditory evoked potentials brain stem (PEATC) in healthy newborns

El presente trabajo tiene como finalidad el estudio de los patrones normales de los Potenciales Evocados Auditivos del Tallo Cerebral (PEATC) en recién nacidos hospitalizados en el Servicio de Neonatología, Unidad de Recién Nacidos del Hospital Central de San Cristóbal, en número de 30, en el período comprendido entre los meses de mayo a octubre del año 2007. El objetivo general es el de valorar la conducción nerviosa en la vía auditiva del tallo cerebral en recién nacidos sanos. Además del estudio de la respuesta auditiva tronco encefálica en los recién nacidos a término sanos, para tener como marco de referencia estos valores en el Hospital Central de San Cristóbal, el establecer los valores de normalidad para la latencia de las Ondas I, III, V de los PEATC en recién nacidos sanos y estimar la utilidad de los PEATC como técnica de investigación auditiva en el período neonatal, para diseñar a futuro un protocolo que determine precozmente la hipoacusia. Es una investigación prospectiva, transversal, analítica, no experimental, observacional. Los parámetros de estimulación son: tipo: Click; Duración: 100 ms; Ratio: 19/seg; Polaridad: alternante; Intensidad: 90 dB nHL; Auriculares: Beyerdynamic DT48. Los parámetros de registro son: Electrodos: Cz Fz M1 M2, Filtro de paso alto: 160 Hz; Filtro de paso bajo: 3.2 kHz; Sensibilidad: 50 mV; n° de promediaciones: 2000. Los resultados se presentan en valores de medias en milisegundos y desviaciones típicas para latencias de la onda I, III y V del total de sujetos estudiados n=30 para oído izquierdo a 80 dB y n=80 para oído derecho. Se incluyen los valores de ± 2,5 desviaciones típicas a 80 dB. También se presentaron las diferencias interaurales entre ambos oídos registradas en este estudio y una comparación de los valores PEATC de este estudio con los valores normales en pediatría. En conclusión se consiguieron una serie de patrones locales de los PEATC que sirven como guía para los futuros estudios.

The PCR-based detection of Trypanosoma cruzi in the faeces of Triatoma infestans fed on patients with chronic American trypanosomiasis gives higher sensitivity and a quicker result than routine xenodiagnosis.

In the xenodiagnosis (XD) of American trypanosomiasis (Chagas disease), Trypanosoma cruzi in the triatomine bugs fed on the patient can now be detected using PCR (XD-PCR) as well as by microscopy (XD-M). In a study to compare XD-PCR with XD-M, triatomine bugs were fed on 50 cases of chronic American trypanosomiasis, of whom only 25 were ever found positive by XD-M. Overall, the bugs fed on 34 of the patients (all 25 cases found positive by XD-M and nine of the other patients) were found PCR-positive, giving a 330-bp fragment corresponding to part of the hyper variable region of the kinetoplast DNA of T. cruzi. Of the 25 patients who were ever found positive by XD-M, 20 gave bugs that were smear-positive on day 90 and a similar number (24; P=0.125) gave bugs that were PCR-positive at this time. On day 30, however, the bugs fed on only 11 of these 25 patients were found positive by microscopy, whereas 23 of these patients were found positive by XD-PCR (P=0.0016). Thus, not only was XD-PCR more sensitive than XD-M but it was also quicker, revealing more cases within 30 days than detected using XD-M over a period of 90 days.

SNPs in human beta-defensin 1 gene (DEFB1): frequencies in a Mexican population and new PCR-RFLPs assays.

Polymerase chain reaction-restriction fragment length polymorphism assays for two single nucleotide polymorphisms in the human beta-defensin 1 gene have been validated with real-time PCR in 101 healthy individuals from western Mexico. Allele frequencies were 52.5% (692-A) and 98.5% (1836-A). These assays can be confidently used as a cheaper alternative genotyping method for these sites.

Electron spin resonance and raman scattering spectroscopy of multi-walled carbon nanotubes: a function of acid treatment.

We compare the fundamental transport mechanism in multi-walled carbon nanotubes (MWNTs) by means of electron spin resonance (ESR) and Raman spectroscopy as a function of acid treatment. The ESR and Raman results show that the acid treatment reduces the density of states at the Fermi level. Defects introduced through the acid treatment move the Fermi level closer to the K points in the valence band, and consequently conduction is reduced. These defects are identified as Stone-Wales type from the Raman results.

Forensic potential of the STR DXYS156 in Mexican populations: inference of X-linked allele null.

The pentanucleotide STR (TAAAA)n DXYS156 offers advantages for genetic identity testing. In addition to establish the gender, DXYS156 expands the DNA profile and is able to indicate the possible geographic origin of the individual. We analyzed DXYS156 in 757 individuals of both sexes from Mexican populations. We studied the cosmopolitan Mestizo population and six Mexican ethnic groups: Tarahumaras, Purépechas, Nahuas, Mayas, Huicholes and Mezcala Indians. The six shorter (4-10) and the three larger alleles (11-13) were specific for the X and Y-chromosomes, respectively. A random distribution of alleles into genotypes was observed in males and females from each population. We estimated the power of exclusion for paternity testing according to the son's gender, and the power of discrimination in forensic casework. In addition, we detected a relatively high frequency of an X-linked allele null, principally in Mexican-Mestizos (3.6%), which must be considered when DXYS156 be applied for identification purposes.

Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia.

The etiology of preeclampsia is still a matter of controversy. An association between hyperhomocysteinemia and preeclamptic patients has been described. A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with increased plasma homocysteine concentrations. In addition, the polymorphism of gene encoding for Factor V Leiden G1691A is associated with a prothrombotic state in heterozygous subjects. Both mutations in these thrombophilic proteins appear to have different prevalence in the general population and in patients with preeclampsia/eclampsia (PE/E). We studied single nucleotide polymorphisms for MTHFR C677T and coagulation Factor V Leiden in 33 Mexican patients with PE/E as a genetic risk factor for these diseases, comparing with a normotensive pregnant control group. The genotype and allele frequencies of MTHFR C677T and Factor V Leiden mutations between Mexican women with PE/E and healthy controls were not different. We conclude that these polymorphisms do not contribute in the etiology of PE/E as it has been reported in other populations.

HLA-DQB1, -DQA1, -DRB1 linkage disequilibrium and haplotype diversity in a Mestizo population from Guadalajara, Mexico.

HLA-DQB1, -DQA1, and -DRB1 genes were typed by polymerase chain reaction with sequence-specific primer (PCR-SSP) in 159 healthy volunteers from 32 families living in Guadalajara, Mexico. Three-locus genotype data from all family members were used to infer haplotypes in 54 unrelated individuals of the sample, from which estimate of segregating haplotype frequencies and linkage disequilibrium (LD) between loci were computed. Genotype distributions were concordant with Hardy-Weinberg expectations (HWE) for all three loci, and allele distributions were similar to the ones observed in other Latin-American populations. Of the 56 distinct three-site (DQB1-DQA1-DRB1) haplotypes observed in the sample, the five most common (i.e., with frequencies of five counts or more) were: *0302-*0301-*04, *0201-*0201-*07, *0301-*0501-*14, *0402-*0401-*08, and *0501-*0101-*01. These common three-locus haplotypes also contributed to the majority of the significant two-locus linkage disequilibria of these three sites.