Key Communication Skills in Cosmetic Dermatology: A 3-Pillar Model. / Dermatología Estética: habilidades humanas claves en comunicación. Modelo de los tres pilares.

Cosmetic dermatology deals with the beauty and appearance of the skin - a most important element of body image. Treatments used in cosmetic dermatology (hygiene, hydration, protection, repair) aim to enhance the characteristics of the skin, its anatomy, its function, and its vitality, to produce aesthetic improvements. Communication with the patient is essential in medical consultations and we believe that it has special connotations in cosmetic dermatology that must be taken into account. In this article, we present a 3-pillar model for communication with cosmetic dermatology patients that rests on 3 skills: assertiveness, empathy, and critical judgement.

[A cross-sectional study of the impact of educational information on topical photoprotection habits in medical students]. / Estudio transversal sobre la repercusión de la información educativa en los hábitos de fotoprotección tópica en estudiantes de medicina.

OBJECTIVES: Skin cancer (melanoma and non-melanoma) is the most common cancer in humans, with melanoma being the most aggressive. Due to the fact that ultraviolet (UV) radiation exposure is the only adjustable aetiological factor, UV protection is the essential preventive measure. Based on these grounds, a study was conducted in order to compare three population groups with different levels of knowledge about UV protection, as well as to determine any differences in sun exposure habits, and the level of awareness of the damaging effects of the sun on the skin. MATERIALS AND METHODS: An observational, cross-sectional study was conducted using a questionnaire survey of 317 Spanish university students aged 18-25years old, between October and December 2015. Descriptive statistics methods and Pearson's Chi-squared were used. RESULTS: Six questions were used to evaluate the sun exposure habits. Significant differences were detected in two of them: mole self-assessment (P<.001) and the use of an appropriate sun protection factor (P=.025). Five questions were asked concerning the level of knowledge about UV protection, with differences (P<.001) being found in all cases. CONCLUSIONS: Despite having more knowledge about the risks of sun exposure in the medical dermatology students group, only two of the six habits questioned were improved. Other factors that could be involved are the aesthetic or sociocultural factors. The early prevention of skin cancer is essential, with health promotion programs needing to be established that take into account all these conditions.

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.

Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determine the frequency of SCN1A mutations (in the exon 26) in a cohort of Mexican patients with DS and refractory epilepsy (RE). We recruited 24 Mexican patients (14 males and 10 females), of which 15 were diagnosed with RE and 9 were diagnosed with DS. The SCN1A gene was sequenced to uncover mutations in exon 26. We detected 2 novel genotypes in 2 DS patients. One was a synonymous variant, c.5418 G > A (E1806E), and the other was a missense variant, c. 5324 T > C (L1775P). The missense mutation was predicted to be damaging with a score of 100% by the PolyPhen-2 program. The frequency of pathogenic variants was 4.17% in all the patients and 11.1% in DS patients, which, together with other publications, emphasize that specific and more severe phenotypes are associated with SCN1A mutations.

Unilateral uveitis associated with IgA nephropathy. / Uveítis unilateral asociada a nefropatía IgA.

CASE REPORT: The case is presented of a 42 year-old man with episodes of unilateral uveitis in his right eye. Ophthalmic examination showed a granulomatous anterior uveitis with vitritis. Systemic investigations revealed non-nephrotic proteinuria and microhaematuria. A renal biopsy showed IgA nephropathy. DISCUSSION: Uveitis and glomerulonephritis may have common immunological pathogenesis. IgA nephropathy should be a differential diagnosis in patients with uveitis and nephropathy.

Chemical characterization of diesel and hydrotreated vegetable oil (HVO) soot after reactive gas probing using diffuse reflectance FTIR spectroscopy (DRIFTS).

A chemical characterization of diesel and hydrotreated vegetable oil (HVO) soot has been developed using diffuse reflectance infrared Fourier transform spectroscopy (DRIFTS) before and after the reaction with different probe gases. Samples were generated under combustion conditions corresponding to an urban operation mode of a diesel engine and were reacted with probe gas-phase molecules in a Knudsen flow reactor. Specifically, NH2OH, O3 and NO2 were used as reactants (probes) and selected according to their reactivities towards specific functional groups on the sample surface. Samples of previously ground soot were diluted with KBr and were introduced in a DRIFTS accessory. A comparison between unreacted and reacted soot samples was made in order to establish chemical changes on the soot surface upon reaction. It was concluded that the interface of diesel and HVO soot before reaction mainly consists polycyclic aromatic hydrocarbons, nitro and carbonyl compounds, as well as ether functionalities. The main difference between both soot samples was observed in the band of the C=O groups that in diesel soot was observed at 1719 cm-1 but not in HVO soot. After reaction with probe gases, it was found that nitro compounds remain on the soot surface, that the degree of unsaturation decreases for reacted samples, and that new spectral bands such as hydroxyl groups are observed.

Surgical treatment in combined hamartoma of the retina and retinal pigment epithelium. / Tratamiento quirúrgico en un hamartoma combinado de retina y epitelio pigmentario.

CASE REPORT: The case is presented of a 39 year-old man with a combined hamartoma of the retina and retinal pigment epithelium, who experienced progressive visual loss and worsening of metamorphopsia. The patient underwent vitrectomy and epiretinal component peeling, with improvement in visual acuity, metamorphopsia, and retinal architecture, assessed by optical coherence tomography. DISCUSSION: Selected patients with combined hamartomas of the retina and retinal pigment epithelium may benefit from surgical management.

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

PURPOSE: There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. METHODS: Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX). A case-control association study was performed to establish its prevalence in Spanish population, in a series of 1477 BRCAX families and 589 controls further screened, and NGS panels were used for ATM mutational screening in a cohort of 392 HBOC Spanish BRCAX families and 350 patients affected with diseases not related to breast cancer. RESULTS: Although the interrogated mutation was not prevalent in case-control association study, a comprehensive mutational analysis of the ATM gene revealed 1.78% prevalence of mutations in the ATM gene in HBOC and 1.94% in breast cancer-only BRCAX families in Spanish population, where data about ATM mutations were very limited. CONCLUSION: ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility.

Manejo endoscópico de litiasis en ureterocele / Endoscopic management of lithiasis in ureteroce

Introducción: El ureterocele corresponde a una dilatación sacular del uréter distal, la cual puede ser congénita o ectópica. Ocurren más frecuentemente en mujeres que hombres, presentándose de manera bilateral en el 10 por ciento de los casos. Su importancia radica en que son factores de riesgo tanto para infección como para la formación de cálculos. No existe consenso en el tratamiento de cálculos asociados a ureterocele, si bien el tratamiento endoscópico pareciera ser el de elección.(AU)

Introduction: The ureterocele corresponds to a saccular dilation of the distal ureter, which may be congenital or ectopic. They occur more frequently in women than men, presenting bilaterally in 10 pertcent of cases. Their importance lies in the fact that they are risk factors for both infection and stone formation. There is no consensus in the treatment of stones associated with ureterocele, although endoscopic treatment seems to be the one of choice Clinical Case: A 69-year-old patient was referred for a long-term illness characterized by repeated episodes of UTI, associated with 2 hematuria events. An imaging study was performed (UROTAC), and a large left ureterocele was documented with 3 cm stones in its interior

eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease.

Fabry disease (FD) is an inherited X-linked lysosomal disease that causes renal failure in a high percentage of affected individuals. The eNOS gene encodes for endothelial nitric oxide synthase, which plays an important role in glomerular hemodynamics. This gene has two main polymorphisms (Glu298Asp and 4b/a) that have been studied in the context of many different diseases, including those involving cardiovascular and renal alterations. Considering the lack of information regarding eNOS variants and FD, we investigated whether there were associations between eNOS genetic variants and renal function parameters in Mexican patients with FD and renal impairment. In total, 15 FD patients with renal alterations were included in the present study, and associations between eNOS polymorphisms and renal function parameters (urea, creatinine, and GFR) were evaluated. The Asp298 and 4a alleles of the eNOS gene were found to be significantly associated with increased levels of urea and creatinine, and a decreased glomerular filtration rate in FD patients, and this association behaved in a co-dominant fashion. Our results coincide with previous reports showing an association between these polymorphisms and kidney disease, and along with other studies regarding their role in the nitric oxide pathway, suggest that these variants affect the severity of nephropathy in patients with FD.

Choroidal metastasis as a presenting manifestation of a lung adenocarcinoma with response to afatinib. / Metástasis coroidea como signo de presentación de un adenocarcinoma de pulmón con respuesta a afatinib.

CASE REPORT: We present the case of a 55-year-old man with a non-small cell lung adenocarcinoma, who presented with choroidal metastasis. The patient showed a decrease in visual acuity. His evaluation revealed unilateral choroidal metastasis secondary to carcinoma of the lung. The patient received afatinib with complete regression of choroidal metastasis after one year follow-up. DISCUSSION: Choroidal metastasis may be the initial sign of lung cancer. This case highlights the importance of a thorough systemic evaluation in patients with choroidal tumours. Afatinib was effective against choroidal metastasis of a lung adenocarcinoma with EFGR mutation.

Churg-Strauss syndrome associated with antiphospholipid antibodies in a patient with retinal vasculitis. / Síndrome de Churg-Strauss asociado con anticuerpos antifosfolipídicos en un paciente con vasculitis retiniana.

CASE REPORT: We present the case of a 69-year-old woman with unilateral retinal vasculitis. Investigations showed asthma, rhinosinusitis, nasal polyposis, peripheral blood eosinophilia, increased sedimentation rate, proteinuria, and antiphospholipid antibodies. Anti-neutrophil cytoplasmic antibodies (ANCA) were negative. DISCUSSION: Although her anti-neutrophil cytoplasmatic antibody (ANCA) status was negative, taking into account the other clinical and laboratory features, retinal vasculitis was thought to be an ocular manifestation of Churg-Strauss syndrome. Treatment was started with high-dose corticosteroids and anticoagulant therapy.

Molecular Characterization of the Gas-Particle Interface of Soot Sampled from a Diesel Engine Using a Titration Method.

Surface functional groups of two different types of combustion aerosols, a conventional diesel (EN 590) and a hydrotreated vegetable oil (HVO) soot, have been investigated using heterogeneous chemistry (i.e., gas-particle surface reactions). A commercial sample of amorphous carbon (Printex XE2-B) was analyzed as a reference substrate. A Knudsen flow reactor was used to carry out the experiments under molecular flow conditions. The selected gases for the titration experiments were: N(CH3)3 for the identification of acidic sites, NH2OH for the presence of carbonyl groups, CF3COOH and HCl for basic sites of different strength, and O3 and NO2 for reducing groups. Reactivity with N(CH3)3 indicates a lower density of acidic functionalities for Printex XE2-B in relation to diesel and HVO soot. Results for NH2OH experiments indicates that commercial amorphous carbon exhibits a lower abundance of available carbonyl groups at the interface compared to the results from diesel and HVO soot, the latter being the one with the largest abundance of carbonyl functions. Reactions with acids indicate the presence of weak basic oxides on the particle surface that preferentially interact with the strong acid CF3COOH. Finally, reactions with O3 and NO2 reveal that diesel and especially HVO have a significantly higher reactivity with both oxidizers compared to that of Printex XE2-B because they have more reducing sites by roughly a factor of 10 and 30, respectively. The kinetics of titration reactions have also been investigated.

Immunopathogenesis of olmesartan-associated enteropathy.

BACKGROUND: Olmesartan-associated enteropathy (OAE) is characterised by diarrhoea, nausea, vomiting, abdominal pain, weight loss and severe sprue-like enteropathy, all of which are resolved after discontinuation of olmesartan medoximil. AIM: To determine the mechanistic similarities of OAE with coeliac sprue. METHODS: Duodenal biopsies were extracted from OAE patients before (n = 11) or after (n = 17) discontinuation of olmesartan medoxomil (on or off olmesartan medoxomil). There were seven 'on/off' paired samples. Formalin-fixed biopsies were stained for CD8, CD4, FoxP3, IL-15R and psmad 2/3. Caco2 cells (human colonic epithelial line) were treated with olmesartan medoxomil and stained for IL-15, IL-15R and ZO-1. RESULTS: In the 'on olmesartan medoxomil' duodenal biopsies, a significant increase in the numbers of CD8+ cells and the number of cells that are FoxP3+ (a regulatory T-cell marker) are present in the duodenum as compared to the duodenal biopsies from patients who discontinued olmesartan medoxomil. IL15R expression is also increased with olmesartan medoxomil use. Evaluation of the effect of olmesartan medoxomil upon Caco-2 cells demonstrated that IL15 expression is increased in response to olmesartan medoxomil treatment. Further, ZO-1, a tight junction protein, is disrupted in olmesartan medoxomil-treated Caco-2 cells. CONCLUSIONS: Olmesartan-associated enteropathy shares many features with coeliac disease, including symptoms and immunopathogenic pathways, such as increased numbers of CD8+ cells and corresponding overexpression of IL15 by epithelial cells. Taken together, the treatment of epithelial cells with olmesartan medoxomil induces a response by intestinal epithelial cells that is similar to the innate effects of gluten upon the epithelium of coeliac patients.

The use of heterogeneous chemistry for the characterization of functional groups at the gas/particle interface of soot from a diesel engine at a particular running condition.

Two gases, O3 and NO2, were selected to probe the surface of a diesel fuel combustion aerosol sample, diesel soot, and amorphous carbon nanoparticles (PRINTEX XE2-B) using heterogeneous (i.e., gas-surface reactions). The gas uptake to saturation of the probes was measured under molecular flow conditions using a Knudsen flow reactor in order to quantify and characterize surface functional groups. Specifically, O3 and NO2 are used for the titration of oxidizable groups. Diesel soot samples interacted with the probe gases to various extents which points to the coexistence of different functional groups on the same aerosol surface such as reduced groups. The carbonaceous particles displayed significant differences: PRINTEX XE2-B amorphous carbon had a significantly lower surface functional group density of both total and strongly reducing groups despite its significantly larger internal surface area, compared to diesel soot. The uptake kinetics of the gas-phase probe molecules (uptake probabilities) were also measured in order to obtain further information on the reactivity of emitted soot aerosols in order to enable the potential prediction of health effects.

Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.

The 9p trisomy is a relatively frequent disorder, while pure 9p trisomies are less frequent and usually derived from 9;22 translocations, duplications or 9p extra chromosomes. Here we report a patient with pure trisomy 9p derived from a terminal balanced unreciprocal translocation. The patient derived to the genetic service by psychomotor delay, presented at 2 years and 11 months: short stature, open anterior fontanelle, dysplastic ears, facial dysmorphisms, long and broad first toes with hypoplastic nails, central nervous system and skeletal alterations. The patient karyotype was: 46,XY,der(10)t(9;10) (p13.1;qter)mat while the mother karyotype was: 46,XX,t(9;10)(p13.1;qter). The presence of the subtelomeric region of 10q showed by FISH as well as the duplication of 9p subtelomere was further confirmed with multiplex ligation dependent probe amplification (MLPA) for the subtelomeric region of all chromosomes. The mechanism of formation seems to be due to a telomere break in 10q leading to loss of telomeric functions, permitting the 9p fusion; this has been supported with molecular probes showing telomere shortening in interstitial telomeric repeats, which are unable to prevent chromosome fusion. This is one of the few cases reported with terminal translocations (not jumping) preserving the subtelomeric region and highlights the importance of subtelomeric probes in terminal arrangements, and the utility of molecular probes, such as MLPA in defining this kind of abnormalities. In the clinical context, the patient presented a high proportion of 9p trisomy features which is expected considering the large 9p segment involved and the presence of the critical region 9p22.