Unilateral clubbing-like digital thickening as a clinical manifestation of low-flow vascular malformations: a series of 13 cases.

BACKGROUND: Digital clubbing is a well-known clinical sign characterized by thickening of the distal phalanges of the fingers and toes. Unilateral clubbing occurs less frequently. A previous report showed for the first time two cases of unilateral clubbing as a clinical manifestation of lower limb venous malformation. The objective of the present study is to describe a series of 13 patients with a low-flow vascular malformation where a clubbing-like unilateral digital thickening is also observed. METHODS: All patients were retrospectively included after reviewing clinical photographs from a vascular malformations database. RESULTS: A total of 13 patients with low-flow vascular malformations were included in this study. The mean age at diagnosis was 11 years (range 5-26 years) with a female predominance (nine patients). The most frequent vascular malformation collected was a blue rubber bleb nevus syndrome in four patients, followed by common venous malformations in three patients. All patients characteristically exhibited a clubbing-like digital thickening. Seven patients had foot involvement and six patients hand involvement. CONCLUSIONS: Although the number of cases is limited, our study is the first series of cases where a clubbing-like digital thickening is described in patients with a low-flow vascular malformation. The unilateral presence of clubbing or pseudoclubbing should lead to the suspicion of an underlying vascular malformation.

Estado actual de la atención multidisciplinar para pacientes con artritis psoriásica en España: proyecto NEXUS 2.0 / Current status of multidisciplinary care in psoriatic arthritis in Spain: NEXUS 2.0 project

OBJETIVO: 1) Analizar la implementación de los modelos de atención multidisciplinar en pacientes con artritis psoriásica (APs), y 2) definir estándares de calidad de mínimos y de excelencia. MÉTODOS: Se envió una encuesta a profesionales que ya realizan atención multidisciplinar o están en vías preguntando por: 1) tipo de modelo de abordaje multidisciplinar, y 2) grado, prioridad y facilidad de la implementación de los estándares de calidad de estructura, proceso y resultado. En 6 reuniones regionales se presentaron y discutieron los resultados de la encuesta, tanto a nivel nacional como regional, y se definió la prioridad definitiva de los estándares de calidad. En una reunión de grupo nominal, 11 expertos (reumatólogos y dermatólogos) analizaron los resultados de la encuesta y las reuniones regionales. Con ello definieron qué estándares de calidad son actualmente de mínimos y cuáles de excelencia. RESULTADOS: Los modelos de atención multidisciplinar conjunto y paralelo son los más implementados, y los de los estándares de calidad es muy variable: en los de estructura varía del 22 al 74%, en los de proceso del 17 al 54% y en los de resultado del 2 al 28%. De los 25 estándares de calidad originales, 9 se consideran solo de mínimos, 4 de excelencia y 12 tienen definidos unos criterios para ser de mínimos y otros para la excelencia. CONCLUSIONES: La definición de estándares de calidad de mínimos y de excelencia ayudará en la consecución del objetivo de la atención multidisciplinar para pacientes con APs, que es la mejor asistencia sanitaria posible

OBJECTIVE: 1) To analyze the implementation of multidisciplinary care models in psoriatic arthritis (PsA) patients, 2) To define minimum and excellent standards of care. METHODS: A survey was sent to clinicians who already performed multidisciplinary care or were in the process of undertaking it, asking: 1) Type of multidisciplinary care model implemented; 2) Degree, priority and feasibility of the implementation of quality standards in the structure, process and result for care. In 6 regional meetings the results of the survey were presented and discussed, and the ultimate priority of quality standards for care was defined. At a nominal meeting group, 11 experts (rheumatologists and dermatologists) analyzed the results of the survey and the regional meetings. With this information, they defined which standards of care are currently considered as minimum and which are excellent. RESULTS: The simultaneous and parallel models of multidisciplinary care are those most widely implemented, but the implementation of quality standards is highly variable. In terms of structure it ranges from 22% to 74%, in those related to process from 17% to 54% and in the results from 2% to 28%. Of the 25 original quality standards for care, 9 were considered only minimum, 4 were excellent and 12 defined criteria for minimum level and others for excellence. CONCLUSIONS: The definition of minimum and excellent quality standards for care will help achieve the goal of multidisciplinary care for patients with PAs, which is the best healthcare possible

Current status of multidisciplinary care in psoriatic arthritis in Spain: NEXUS 2.0 project. / Estado actual de la atención multidisciplinar para pacientes con artritis psoriásica en España: proyecto NEXUS 2.0.

OBJECTIVE: 1) To analyze the implementation of multidisciplinary care models in psoriatic arthritis (PsA) patients, 2) To define minimum and excellent standards of care. METHODS: A survey was sent to clinicians who already performed multidisciplinary care or were in the process of undertaking it, asking: 1) Type of multidisciplinary care model implemented; 2) Degree, priority and feasibility of the implementation of quality standards in the structure, process and result for care. In 6 regional meetings the results of the survey were presented and discussed, and the ultimate priority of quality standards for care was defined. At a nominal meeting group, 11 experts (rheumatologists and dermatologists) analyzed the results of the survey and the regional meetings. With this information, they defined which standards of care are currently considered as minimum and which are excellent. RESULTS: The simultaneous and parallel models of multidisciplinary care are those most widely implemented, but the implementation of quality standards is highly variable. In terms of structure it ranges from 22% to 74%, in those related to process from 17% to 54% and in the results from 2% to 28%. Of the 25 original quality standards for care, 9 were considered only minimum, 4 were excellent and 12 defined criteria for minimum level and others for excellence. CONCLUSIONS: The definition of minimum and excellent quality standards for care will help achieve the goal of multidisciplinary care for patients with PAs, which is the best healthcare possible.

Expression patterns of aquaporin 1 in vascular tumours.

BACKGROUND: Aquaporins (AQPs) are a family of water channels expressed in various body tissues. Beyond osmotic balance, AQPs have recently been confirmed to be involved in processes related to cancer (tumour proliferation, angiogenesis, etc.). OBJECTIVES: To analyse the presence of these proteins in the endothelium of several vascular tumours, both benign and malignant, in order to establish whether AQPs may be used as a marker or future therapeutic target. MATERIALS AND METHODS: We studied AQP1 expression in 39 patients with vascular tumours, classified into six groups according to ISSVA classification: haemangiomas, benign vascular tumours different from infantile haemangiomas, angiosarcomas, classic Kaposi's sarcoma (KS), and epidemic KS. RESULTS: AQP1 expression was present in 28 of 39 patients, representing 92.9% benign lesions, whereas no expression was found in 72% of malignant lesions. AQP1 expression was associated with benign lesions with an OR of 34.5 (95% CI: 5-250); p<0.0005, and was most frequently identified with a focal endothelial pattern (38%). A kappa index of 0.823 (95% CI: 0.678-0.971) was determined regarding the patterns of expression overall. CONCLUSION: The expression of AQP1 was greater in benign lesions than malignant lesions and this difference was statistically significant, thus AQP1 expression could serve as a marker for benignity of vascular tumours. In addition, the expression pattern of AQP1 was different according to the type of vascular tumour.

Obesity treatment by very low-calorie-ketogenic diet at two years: reduction in visceral fat and on the burden of disease.

The long-term effect of therapeutic diets in obesity treatment is a challenge at present. The current study aimed to evaluate the long-term effect of a very low-calorie-ketogenic (VLCK) diet on excess adiposity. Especial focus was set on visceral fat mass, and the impact on the individual burden of disease. A group of obese patients (n = 45) were randomly allocated in two groups: either the very low-calorie-ketogenic diet group (n = 22), or a standard low-calorie diet group; (n = 23). Both groups received external support. Adiposity parameters and the cumulative number of months of successful weight loss (5 or 10 %) over a 24-month period were quantified. The very low-calorie-ketogenic diet induced less than 2 months of mild ketosis and significant effects on body weight at 6, 12, and 24 months. At 24 months, a trend to regress to baseline levels was observed; however, the very low-calorie-ketogenic diet induced a greater reduction in body weight (-12.5 kg), waist circumference (-11.6 cm), and body fat mass (-8.8 kg) than the low-calorie diet (-4.4 kg, -4.1 cm, and -3.8 kg, respectively; p < 0.001). Interestingly, a selective reduction in visceral fat measured by a specific software of dual-energy x-ray absorptiometry (DEXA)-scan (-600 g vs. -202 g; p < 0.001) was observed. Moreover, the very low-calorie-ketogenic diet group experienced a reduction in the individual burden of obesity because reduction in disease duration. Very low-calorie-ketogenic diet patients were 500 months with 5 % weight lost vs. the low-calorie diet group (350 months; p < 0.001). In conclusion, a very low-calorie-ketogenic diet was effective 24 months later, with a decrease in visceral adipose tissue and a reduction in the individual burden of disease.

Oral Nadolol for Children with Infantile Hemangiomas and Sleep Disturbances with Oral Propranolol.

BACKGROUND/OBJECTIVE: Oral propranolol has been shown to be safe and effective in infants with infantile hemangioma (IH). Side effects such as sleep disturbances have been associated with propranolol. The aim of this study was to evaluate the efficacy and safety of oral nadolol in a small series of patients whose propranolol therapy was discontinued due to sleep disturbances. METHODS: A retrospective study of patients with IHs who were treated with oral nadolol due to propranolol-related sleep disturbances at a pediatric tertiary care center between July 2008 and March 2013. Clinical response to oral nadolol and disappearance of propranolol-related side effects were analyzed. RESULTS: A total of 97 patients presenting IH received oral propranolol. Nine patients (9.3%) developed sleep disturbances. Oral propranolol was discontinued in seven patients and switched to oral nadolol, with resolution of these side effects in 5 (71%) of the cases. One patient developed sleep disturbances again after four months of oral nadolol. LIMITATIONS: The sample size was too small to draw generalizable conclusions and to draw any statistical inference as to the incidence of sleep disturbances with nadolol therapy. CONCLUSIONS: The use of oral nadolol in the treatment of IH in our series of 7 patients, resolved the propranolol-related sleep disturbances in 5 (71%), while in one patient the symptoms recurred after 4 months of oral nadolol at a dose of 2 mg/kg/day. In most cases, switching beta-blockers did not compromise efficacy, and is recommended when sleep disturbance necessitates discontinuation of beta-blocker therapy of IH.

Matricoma melanocítico: hallazgos clinicopatológicos e inmunohistoquímicos. Presentación de un caso y revisión de la literatura / Clinicopathological and immunohistochemical findings in melanocytic matricoma. A case report and a review of the literature

El matricoma melanocítico es una neoplasia cutánea inusual descrita recientemente. Clínicamente se presenta como una lesión papulo-nodular pigmentada en personas añosas, localizada en zonas con daño solar crónico. Histológicamente se caracteriza por una proliferación celular bifásica constituida por células dendríticas melanocíticas y células epiteliales de hábito basalioide con áreas focales de atipia citológica y figuras mitóticas dispersas entremezcladas con células en sombra. El estudio inmunohistoquímico muestra positividad del componente basalioide para -catenina y focal para citoqueratinas AE1/AE3, mientras que las células dendríticas melanocíticas son positivas para Melan A, HMB45 y S-100. Presentamos los hallazgos clinicopatológicos, inmunohistoquímicos, diagnóstico diferencial y revisión de la literatura de un nuevo caso recientemente diagnosticado en nuestro servicio. En la actualidad existen aproximadamente 12 casos publicados en la literatura (AU)

The matricoma melanoma is a rare, recently described cutaneous neoplasm. It appears in elderly patients as a papulo-nodular pigmented lesion in areas with long standing exposure to the sun. The histopathological characteristics are a biphasic proliferation of both dendritic melanocytes and basaloid epithelial cells with varying nuclear atypia and mitotic activity, and numerous interspersed shadow cells. Immunohistochemical studies for -catenin highlighted the morphology of the basaloid cells and focal expression of cytokeratins AE1/AE3, while studies for Melan A, HMB-45 and S-100 protein confirmed the dendritic melanocyte component. The clinicopathological and immunohistochemical findings and differential diagnosis of a new case are described, together with a review of the literature. Approximately only 12 cases have been previously reported(AU)

Comparison of a very low-calorie-ketogenic diet with a standard low-calorie diet in the treatment of obesity.

The global prevalence of obesity has significantly increased in most industrialized countries. Anti-obesity drugs are scarce, and indications to change their life style are impractical. Therefore, to identify diets able to produce significantly and maintained weight loss is mandatory. The present work evaluated the efficacy of a very low-calorie-ketogenic (VLCK) diet in obesity. A group of obese patients were randomized into two groups: the VLCK diet group and a standard low-calorie diet (LC group). The follow-up period was 12 months. Both groups received external support, counseling, to perform physical activity and adhered to the diet. The VLCK diet induced a 30-45 days of mild ketosis and significant effects on body weight within 15 days. At 2 months, the weight reductions in the VLCK diet and LC diet groups were 13.6 ± 3.9 and 4.8 ± 2.7 kg, respectively (p < 0.0001). At the end of the study, at 12 months, the weight reductions were 19.9 ± 12.3 and 7.0 ± 5.6 kg, respectively (p < 0.0001), and more than 88 % of patients in the VLCK diet group lost more of 10 % of their initial weight. Lean mass was practically unaffected. The VLCK diet was well tolerated and the side effects were moderate and transitory. In a group of obese patients, the VLCK diet was significantly more effective than a standard LC diet. At one year follow-up in the group with VLCK diet, most of the patients loss more than 10 % of their initial weight and lean mass was well preserved.

Adrenal insufficiency and adrenal replacement therapy. Current status in Spain.

Adrenal insufficiency (AI) is a rare endocrine disease, associated to increased mortality if left untreated. It can be due to a primary failure of the adrenal glands (primary AI) or malfunctioning of the hypothalamic-pituitary-adrenal axis (HPA) (secondary AI). The lack of data on incidence/prevalence of adrenal insufficiency in Spain complicates any evaluation of the magnitude of the problem in our country. Initial symptoms are non-specific, so often there is a delay in diagnosis. Current therapy with available glucocorticoids is associated with decreased quality of life in patients with treated AI, as well as with increased mortality and morbidity, probably related to both over-treatment and lack of hydrocortisone, associated with non-physiological peaks and troughs of the drug over the 24 hours. The availability of a new drug with a modified dual release (immediate and retarded), that requires one only daily dose, improves and simplifies the treatment, increases compliance as well as quality of life, morbidity and possibly mortality. This revision deals with the knowledge on the situation both globally and in Spain, prior to the availability of this new drug.

Insuficiencia suprarrenal y su tratamiento sustitutivo. Su realidad en España / Adrenal insufficiency and adrenal replacement therapy. Current status in Spain

Con las pautas actuales sustitutivas de glucocorticoides en los pacientes con IS tratados la calidad de vida está disminuida y existe una mayor morbimortalidad, probablemente en relación tanto con la sobredosificación como con la falta de glucocorticoides con picos y nadires no fisiológicos a lo largo de las 24h. La disponibilidad de un nuevo fármaco con liberación modificada dual (inmediata y retardada) que requiere una sola dosis diaria mejora y simplifica el tratamiento, incrementa la adherencia, mejora la calidad de vida, la morbilidad y posiblemente la mortalidad. Esta revisión repasa la realidad y conocimientos sobre el tema tanto globalmente como en España ante la situación previsible de disponer en el futuro de este nuevo fármaco. La insuficiencia suprarrenal (IS) es una enfermedad poco frecuente pero con riesgo vital si no se trata. Puede ser por fallo primario de las glándulas suprarrenales (IS primaria) o por mal funcionamiento del eje hipotalámico-hipófiso-adrenal (HPA) (IS secundaria). La carencia de datos sobre la incidencia/prevalencia de la IS en España dificulta apreciar la magnitud del problema en nuestro país. Los síntomas iniciales son inespecíficos, por lo que con frecuencia se retrasa el diagnóstico (AU)

Adrenal insufficiency (AI) is a rare endocrine disease, associated to increased mortality if left untreated. It can be due to a primary failure of the adrenal glands (primary AI) or malfunctioning of the hypothalamic-pituitary-adrenal axis (HPA) (secondary AI). The lack of data on incidence/prevalence of adrenal insufficiency in Spain complicates any evaluation of the magnitude of the problem in our country. Initial symptoms are non-specific, so often there is a delay in diagnosis. Current therapy with available glucocorticoids is associated with decreased quality of life in patients with treated AI, as well as with increased mortality and morbidity, probably related to both over-treatment and lack of hydrocortisone, associated with non-physiological peaks and troughs of the drug over the 24hours. The availability of a new drug with a modified dual release (immediate and retarded), that requires one only daily dose, improves and simplifies the treatment, increases compliance as well as quality of life, morbidity and possibly mortality. This revision deals with the knowledge on the situation both globally and in Spain, prior to the availability of this new drug (AU)

Weight-related quality of life in Spanish obese subjects suitable for bariatric surgery is lower than in their North American counterparts: a case-control study.

BACKGROUND: Obesity impairs quality of life, but the perception of the impairment could be different from one country to another. The purpose was to compare weight-related quality of life (QOL) between cohorts from Spain and North America. METHODS: A cross-sectional case-control study was performed between two populations. Four hundred Spanish and 400 North American obese subjects suitable for bariatric surgery closely matched for race, gender, age, and body mass index (BMI) were included. Two non-obese control groups matched for gender, age, and BMI from each population were also evaluated (n = 400 in each group). The participants completed the Impact of Weight on Quality of Life-Lite (IWQOL-Lite) questionnaire, a measure of weight-related QOL. RESULTS: Spanish morbidly obese patients showed poorer QOL than their North American counterparts in physical function, sexual life, work, and total score. By contrast, Spanish non-obese control subjects reported better QOL in all domains than their North American counterparts. Women, both in Spain and North America, reported reduced QOL compared to men on the domain of self-esteem. In addition, North American women reported reduced QOL on the sexual life domain compared to men. BMI correlated negatively with all domains of QOL except for self-esteem in both national groups. CONCLUSIONS: Spanish obese subjects suitable for bariatric surgery report poorer weight-related quality of life than their North American counterparts, and obese women, regardless of nationality, perceive a reduced quality of life compared to men.

Primary cutaneous cryptococcosis of the penis.

Primary cutaneous cryptococcosis is characterized by skin lesions confined to one body region, without evidence of simultaneous dissemination. Skin lesions frequently occur in immunocompromised patients. We report a case of primary cutaneous cryptococcosis in an immunocompetent patient affecting genital area successfully treated with oral itraconazole.