Amelanotic melanoma in a patient with oculocutaneous albinism.

Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized decreased or absence of melanin pigment in the eyes, hair, and skin. These patients have a greater sensitivity to UV radiation and a predisposition to skin tumors, mainly squamous cell carcinoma and basal cell carcinomas, and to a lesser extent malignant melanomas. Melanoma can be one of the most challenging cancers to diagnose in patients with albinism. We report an uncommon clinical presentation of melanoma, an amelanotic melanoma in the right supraciliar region in a patient with oculocutaneous albinism. The clinical presentation was an erythematous, scaly and ill-defined plaque. The skin biopsy revealed a lentigo maligna melanoma. Amelanotic melanomas are one of the two most difficult to diagnose subtypes of melanoma, together with the nevoid type. Melanoma in oculocutaneous albinism patients are often amelanotic, which makes their clinical diagnosis very difficult. These patients should be examined in the dermatology department at least once a year and it is recommended to have a high index of suspicion.

Solitary circumscribed neuroma of the glans penis. An unusual finding.

Palisaded encapsulated neuroma is a rare, benign neural tumor. The involvement of the glans penis is rare; few cases have been reported. We present a 52-year-old man with a five-month course of a solitary painless lesion of the glans penis. Full excision of the nodule was performed. Histopathological and immunohistochemical analyses and examination was consistent with a palisaded encapsulated neuroma. We describe one of a few existing cases of this kind of tumor in the glans penis.

Vitamin D status and physical activity interact to improve bone mass in adolescents. The HELENA Study.

UNLABELLED: The effects of vitamin D concentrations on bone mineral content in adolescents are still unclear. Vitamin D and physical activity (PA) may interact to determine bone mineral content (BMC) in two possible directions; 25(OH)D sufficiency levels improve BMC only in active adolescents, or PA increases BMC in individuals with replete vitamin D levels. INTRODUCTION: The effects of suboptimal 25-hydroxycholecalciferol (25(OH)D) concentrations on BMC in adolescents are still unclear. The main aim of this study was to evaluate the influence of 25(OH)D on BMC in adolescents, considering the effect of body composition, sex, age, Tanner stage, season, calcium and vitamin D intakes, physical fitness and PA. METHODS: Serum 25(OH)D concentrations, anthropometric measurements, dual energy X-ray absorptiometry measurements, calcium and vitamin D intakes, PA and physical fitness were obtained in 100 Spanish adolescents (47 males), aged 12.5-17.5 years, within the framework of the Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) study. Relations were examined using ANCOVA and regression analyses including BMC as dependent variable. RESULTS: Linear regression of BMC suggested that 25(OH)D concentrations independently influenced total and leg BMC after controlling for age, sex, lean mass, seasonality and calcium intake (B = 0.328, p < 0.05, and B = 0.221, p < 0.05, respectively) in the physically active group. No significant influence of 25(OH)D concentrations on BMC was observed in the inactive group. Significant effect was shown between the interaction of 25(OH)D and PA on BMC for the total body and legs (both p < 0.05). CONCLUSIONS: Vitamin D and PA may interact to determine BMC. 25(OH)D sufficiency levels improve bone mass only in active adolescents, or PA has a positive influence on BMC in individuals with replete vitamin D levels.

Muscular strength and markers of insulin resistance in European adolescents: the HELENA Study.

The aim of the study was to examine the association of muscular strength with markers of insulin resistance in European adolescents. The study comprised a total of 1,053 adolescents (499 males; 12.5-17.5 years) from ten European cities participating in the Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) Cross-Sectional Study. Muscular strength was measured by the handgrip strength and standing long jump tests. Cardiorespiratory fitness was measured by the 20-m shuttle run test. Fasting insulin and glucose were measured and the homeostasis model assessment (HOMA) and quantitative insulin sensitivity check index (QUICKI) indices were calculated. Weight, height, waist circumference and skinfold thickness were measured, and body mass index (BMI) was calculated. In males, the handgrip strength and standing long jump tests were negatively associated with fasting insulin and HOMA (all P < 0.05) after controlling for pubertal status, country and BMI or waist circumference. When skinfold thickness was included in the model, the association became non-significant. In females, the standing long jump test was negatively associated with fasting insulin and HOMA (all P < 0.001) after controlling for pubertal status, country and surrogate markers of total or central body fat (BMI, waist circumference or skinfold thickness). Findings were retained in males, but not in females after controlling for cardiorespiratory fitness. The findings of the present study suggest that preventive strategies should focus not only on decreasing fatness and increasing cardiorespiratory fitness but also on enhancing muscular strength.

Influence of maternal educational level on the association between the rs3809508 neuromedin B gene polymorphism and the risk of obesity in the HELENA study.

OBJECTIVE: Neuromedin B (NMB) is a bombesin-like peptide, which inhibits food intake and modulates stress-related behaviour. An NMB gene polymorphism (P73T) has been earlier associated with obesity and abnormal eating behaviour in adults. METHODS: The association between four NMB polymorphisms and obesity-related phenotypes was investigated in the Healthy Lifestyle in Europe by Nutrition in Adolescence cross-sectional study (n=1144, 12-17-year-old European adolescents). This population was genotyped for the NMB rs1107179, rs17598561, rs3809508 and rs1051168 (P73T) polymorphisms. Obesity was defined according to Cole et al. (BMJ 2000; 320:1240-1243) criteria; eating behaviour was assessed by the Eating Behaviour and Weight Problems Inventory for Children (EWI-C) and the food choices and preferences questionnaires. Familial socioeconomic status (SES) was assessed through the parents' educational level. RESULTS: Only the genotype distribution of rs3809508 differed according to obesity status, as the TT genotype was more frequent in obese than in non-obese adolescents (8.6% vs 3.1%, P=0.05; adjusted odds ratio for obesity (95% confidence interval): 2.85 (1.11-7.31), P=0.03). Moreover, TT subjects had higher body mass index (22.8+/-4.4 kg m(-2) vs 21.3+/-3.7 kg m(-2), P=0.02), waist circumference (75.8+/-9.7 cm vs 72.2+/-9.3 cm, P=0.006), waist-to-hip ratio (0.84+/-0.14 vs 0.79+/-0.07, P<0.0001) and waist-to-height ratio (0.47+/-0.06 vs 0.44+/-0.55, P=0.002) than C allele carriers. The effects of this single nucleotide polymorphism on all anthropometric values were influenced by the maternal SES, in that a low maternal educational level aggravated the phenotype of adolescents carrying the TT genotype (interactions: P<0.02). No association with EWI-C scores was found, although sweet craving was a more frequent cause of between-meal food intake in TT subjects than in C allele carriers (24.3% vs 9.2%, P=0.01). CONCLUSION: In European adolescents, the TT genotype of the NMB rs3809508 polymorphism was associated with a higher risk of obesity. Moreover, the effects of this polymorphism on anthropometric values were influenced by the maternal educational level.

The "healthy lifestyle guide pyramid" for children and adolescents.

INTRODUCTION: Increasing evidence demonstrates that risk factors for chronic diseases are established during childhood and adolescence. Consensus about the need to increase prevention efforts makes the adoption of a healthy lifestyle seem desirable from early childhood onwards. After reviewing educational tools for children and adolescents aimed at promoting a healthy lifestyle, it was recognized that there was a need to develop a simple educational tool specifically designed for these age groups. METHODS: Development of the healthy lifestyle pyramid for children and adolescents. RESULTS: We propose a three-dimensional, truncated and staggered pyramid with 4 faces and a base, which introduces a completely new concept that goes beyond other published pyramids. Each of the faces is oriented towards achieving a different goal. Two faces (faces 1 and 2) are formulated around achieving a goal on a daily basis (daily food intake, face 1, and daily activities, face 2). Face 3 is an adaptation of the traditional food guide pyramid, adapted to children's energy, nutritional and hydration needs. Face 4 deals with both daily and life-long habits. On the base of the pyramid, there is advice about adequate nutrition alternating with advice about physical activity and sports. CONCLUSION: The Healthy Lifestyle Pyramid is specifically developed for children and adolescents according to current scientific knowledge and evidence-based data and includes easy-to-follow advice and full colour pictures. Following these guidelines should improve health and reduce risk factors, promoting enjoyable and appropriate development towards adulthood.

Fruit and vegetables consumption is associated with higher vitamin intake and blood vitamin status among European adolescents.

BACKGROUND/OBJECTIVES: Current research in adults indicates that fruit and vegetable (FAV) consumption increases serum levels of vitamins C, E and folate of ß-carotene and reduces homocysteine concentrations. The aim of the present study was to examine the association of FAV consumption on vitamin intakes and their impact on blood vitamin concentrations in European adolescents. SUBJECT/METHODS: This multi-center cross-sectional study included 702 (53.7% females) adolescents, aged 12.50-17.49 years, from 10 European cities. Two independent self-administered 24 h dietary recalls were used to estimate the adolescent's diet. The total energy, vitamins and FAV consumption were calculated. Adolescents were categorized into three groups: (i) very low FAV intake (<200 g/day); (ii) low FAV consumption (200-399 g/day) and (iii) adequate FAV consumption (⩾400 g/day). Adolescent's fasted blood samples were taken for their analysis on vitamin concentrations. RESULTS: The main results showed that those adolescents meeting the FAV recommendation, classified as FAV adequate consumers, presented higher intake of energy and some vitamins as B6, total folic acid, C, E and ß-carotene compared with FAV very low consumers (P<0.05). Regarding their blood status, male adolescents who had a very low FAV consumption presented lower plasma folate, RBC folate blood concentrations compared with adequate FAV consumers (P<0.05). Female adequate FAV consumers had higher concentrations of pyridoxal phosphate (PLP), plasma folate, RBC folate, vitamin C, ß-carotene and α-tocopherol compared with very low and low consumers (P<0.05). CONCLUSIONS: Having a FAV dairy intake above 400 g/day is associated with higher vitamin intake and blood vitamin concentrations, especially for antioxidant and B-vitamins concentrations.

Inflammation profile in overweight/obese adolescents in Europe: an analysis in relation to iron status.

BACKGROUND/OBJECTIVES: The objectives of this study were to investigate the relationship between inflammatory parameters (CRP, c-reactive protein; AGP, α1-acid glycoprotein), iron status indicators (SF, serum ferritin; sTfR, soluble transferrin receptor) and body mass index (BMI) z-score, fat-free mass (FFM) and fat mass (FM) in European adolescents. Differences in intake for some nutrients (total iron, haem and non-haem iron, vitamin C, calcium, proteins) were assessed according to BMI categories, and the association of nutrient intakes with BMI z-score, FM and FFM was evaluated. METHODS: A total of 876 adolescents participating in the Healthy Lifestyle in Europe by Nutrition in Adolescence-Cross Sectional Study were included in the study sample. RESULTS: Mean CRP values (standard error; s.e.) were significantly higher in overweight/obese adolescents (1.7±0.3 and 1.4±0.3 mg/l in boys and girls, respectively) than in thin/normal-weight adolescents (1.1±0.2 and 1.0±0.1 mg/l in boys and girls, respectively) (P<0.05). For boys, mean SF values (s.e.) were significantly higher in overweight/obese adolescents (46.9±2.7 µg/l) than in thin/normal-weight adolescents (35.7±1.7 µg/l) (P<0.001), whereas median sTfR values did not differ among BMI categories for both boys and girls. Multilevel regression analyses showed that BMI z-score and FM were significantly related to CRP and AGP (P<0.05). Dietary variables did not differ significantly among BMI categories, except for the intake of vegetable proteins, which, for boys, was higher in thin/normal-weight adolescents than in overweight/obese adolescents (P<0.05). CONCLUSIONS: The adiposity of the European adolescents was sufficient to cause chronic inflammation but not sufficient to impair iron status and cause iron deficiency.

[Spontaneous tumor regression. Report of 2 cases]. / Regresión tumoral espontánea. A propósito de dos casos.

Two cases of spontaneous tumor regression (STR) occurring in a patient with non Hodgkin lymphoma and in another patient with squamous carcinoma of the lung are presented. Both cases fulfill the criteria of STR defined by Everson and Cole. Recent results obtained in basic and clinical studies have indicated that immunological mechanisms could play an important role in STR. The mediator effects more frequently referred are: 1) generation of antineoplastic cytotoxic cells; 2) production of immunoregulatory cytokines by lymphocytes and monocytes, and 3) possible cross reaction between tumor and bacterial antigens. These mechanisms of action are discussed in relation to the presented cases.

[Post-transfusion hepatitis in Navarra. Evidence of acute hepatitis C virus infection without elevation of aminotransferases]. / Hepatitis postransfusional en Navarra. Evidencia de infección aguda por el virus de la hepatitis C sin elevación de aminotransferasas.

BACKGROUND: To determine the incidence of postransfusion hepatitis (PTH) and hepatitis C virus (HCV) infection in blood recipients in Navarra and to evaluate the impact of excluding anti-HCV positive donors on the incidence of posttransfusion HCV infection. METHODS: 248 transfusion recipients were included, 150 in a first period before anti-HCV(+) donors exclusion, and 98 in a second period after their exclusion. A serum sample from each patient was collected, bimonthly during the first month and monthly for six months, and another serum sample, twelve months after transfusion. ALT and anti-HCV were tested in each sample with ELISA and RIBA 2nd generation. HCV-RNA was determined with a nested polymerase chain reaction assay. RESULTS: PTH incidence in 1989 was of 2.9%. This incidence decreased to 1.1% after anti-HCV ELISA 1st generation positive donors exclusion. At present, this incidence, with anti-HCV ELISA 2nd generation positive donors exclusion, is 0.8%. 80% of PTH were caused by HCV. 50% of HCV acute infection, confirmed by positive PCR, had normal ALT. CONCLUSIONS: In Navarra, HPT incidence is below 1% after anti-HCV(+) donors exclusion. There are subclinics forms of HCV acute postransfusional infection with normal ALT.

[Mesenteric panniculitis in the differential diagnosis of abdominal pain]. / La paniculitis mesentérica en el diagnóstico diferencial del dolor abdominal.

Mesenteric panniculitis is a rare disease affecting adipose tissue of the mesentery that may result in the development of large masses in the abdomen. Diffuse chronic or intermittent abdominal pain is the most frequent symptom. It usually follows a benign course though surgery is sometime needed. We describe a patient with recurrent abdominal pain who was diagnosed of mesenteric panniculitis. An abdominal CT scan oriented to the diagnosis and an open laparotomy and biopsy was needed for a definitive diagnosis. A brief review of the literature is added.

[Diffuse T-cell lymphoma of the cervix uteri: an unusual localization of an infrequent tumor]. / Linfoma difuso de células T de cérvix uterino: una localización inusual de un tumor poco frecuente.

Non-Hodgkin lymphomas are frequent tumors. However, extraglandulary forms are very unusual, and the location in the uterine cervix is also extraordinary. A case of an elderly woman with symptoms not related with the tumor, in whom the diagnosis was made from the incidental finding of a distended obstructive bladder is presented. Pelvic mass is one of the forms of presentation of primary malignant lymphomas of the uterine cervix. Diagnosis was made in this case by transvaginal biopsy under general anesthesia. Biopsy showed a diffuse T-cell lymphoma, a very rare finding considering that most of published cases are B-cell type. The importance of distinguishing malignant lymphoma from undifferentiated carcinoma or sarcoma is emphasized since cervical malignant lymphoma can be successfully treated with irradiation.

[Idiopathic mediastinal fibrosis associated with hypercoagulability: a case report]. / Fibrosis mediastínica idiopática asociada a hipercoagulabilidad. A propósito de un caso.

Mediastinal fibrosis is a rare and unknown disease characterized by the presence of a fibrotic mass in the anterior mediastinum that can invade close structures as gullet, trachea, recurrent nerve, superior cava vein etc. Only 1-2% of patients with mediastinal fibrosis associate superior cava vein obstruction. When it appears, it is produced by extrinsic compression for fibrotic magma in almost all the cases. A case of hypercoagulability disorder associated with mediastinal fibrosis and superior cava vein obstruction by thrombosis (intrinsec mechanism), and the satisfactory evolution after the treatment with oral anticoagulation, corticosteroids and tamoxifen is presented.

[Cyclosporin A in the treatment of Eaton-Lambert myasthenic syndrome]. / Ciclosporina-A como tratamiento del síndrome miasteniforme de Eaton-Lambert.

The Lambert-Eaton myasthenic syndrome (LEMS) is a disorder of he cholinergic neurotransmition at the presinaptic terminal of the neuromuscular junction. Clinically it is characterized by muscular weakness, hyporeflexia and autonomic dysfunction. In this entity thet presence of antibodies against calcium channels impair acetylcholine release. Whe used cyclosporin-A in a patient with LEMS and this resulted in a complete clinical and neurophysiological recovery after four months of therapy.

Cardiorespiratory fitness in males, and upper limbs muscular strength in females, are positively related with 25-hydroxyvitamin D plasma concentrations in European adolescents: the HELENA study.

BACKGROUND: High prevalence of vitamin D insufficiency (<75 nmol/l) has been previously reported in European adolescents. Vitamin D deficiency has been related to physical fitness and adiposity but it is not clearly known whether this relationship applies to growing children and adolescents. AIM: To determine how body composition and physical fitness are related to 25-hydroxyvitamin D [25(OH)D] concentrations in European adolescents. DESIGN: The HEalthy Lifestyle in Europe by Nutrition in Adolescence-CSS study was a multi-centre cross-sectional study. METHODS: Plasma 25(OH)D, body composition and physical fitness measures were obtained in 1006 European adolescents (470 males) aged 12.5-17.5 years. Stepwise regression and ANCOVA were performed by gender using 25(OH)D as dependent variable, with body composition, physical fitness as independent variables controlling for age, seasonality and latitude. RESULTS: For males, maximum oxygen consumption (VO2max) (B = 0.189) and body mass index (BMI) (B = -0.124) were independently associated with 25(OH)D concentrations (both P < 0.05). For females, handgrip strength (B = 0.168; P < 0.01) was independently associated with 25(OH)D concentrations. Those adolescents at lower BMI and high fitness score presented significant higher 25(OH)D concentrations than those at lower fitness score in the other BMI groups (P < 0.05). CONCLUSION: Cardiorespiratory fitness and upper limbs muscular strength are positively associated with 25(OH)D concentrations in male and female adolescents, respectively. Adiposity in males and low fat free mass in females are related to hypovitaminosis D. The interaction between fitness and BMI has a positive effect on 25(OH)D concentrations. Therapeutic interventions to correct the high rates of vitamin D deficiency in adolescents should consider physical fitness.

Intake and dietary sources of haem and non-haem iron among European adolescents and their association with iron status and different lifestyle and socio-economic factors.

BACKGROUND/OBJECTIVES: Adolescents are at risk of iron deficiency because of their high iron requirements. The aims of this study were: (1) to assess iron intake, its determinants and its most important food sources and; (2) to evaluate the relation of iron intake and status in European adolescents. SUBJECTS/METHODS: Two non-consecutive 24-h recalls were completed by a computerised tool. The socio-demographic and socio-economic data were collected by a self-reported questionnaire. Weight and height were measured. A distinction was made between haem and non-haem iron. RESULTS: The total iron intake was significantly higher among boys (13.8 mg/day; n=1077) than girls (11.0 mg/day; n=1253). About 97.3% of the boys and 87.8% of the girls met the estimated average requirement, and 72.4% of the boys and 13.7% of the girls met the recommendation for bio-available iron intake. The ratio of haem/non-haem iron intake was lower for girls than boys. Meat (19.2; 76%) and bread and rolls (12.6;3.9%) contributed most to total and haem iron intake. Bread and rolls (13.8%) and meat (10.8%) contributed most to non-haem iron intake. Age, sex and body mass index were associated with iron intake. Only red blood cell concentration was significantly negatively associated with total, haem and non-haem iron intake. CONCLUSION: Girls had lower iron intakes and ratio of haem/non-haem iron intake than boys. The main total iron and haem iron source was meat, while the main non-haem iron source was bread and rolls. Adolescent girls may be a group at risk for iron deficiency. Consequently, special attention and strategies are needed in order to improve iron intakes during adolescence.

Retinol, ß-carotene, α-tocopherol and vitamin D status in European adolescents; regional differences an variability: a review.

Currently, blood levels to define vitamin deficiency or optimal status in adolescents are extrapolated from adults. This may be not adequate as vitamin requirements during adolescence depend on the process of sexual maturation, rapid increasing height and weight, among other factors. In order to establish the state of the art, Medline database (www.ncvi.nlm.nih.gov) was searched for studies published in Europe between 1981 and 2010 related to liposoluble vitamin status in adolescents. A comparison of the vitamin status published in the reviewed articles was difficult due to the lack of studies, lack of consensus on cut-off levels indicating deficiency and optimal vitamin levels and the different age-ranges used. In spite of that, deficiency prevalence varied for vitamin D (13-72%), vitamin A (3%), E (25%) and ß-carotene (14-19%). Additional factors were considered as possible determinants. We conclude that it is necessary to establish a consensus on acceptable ranges and cut-offs of these vitamins during adolescence. Representative data are still missing; therefore, there is a high need to get deeper into the investigation on liposoluble vitamins in this population group.

Bone mass and bone metabolism markers during adolescence: The HELENA Study.

BACKGROUND/AIMS: The assessment of bone mineral content (BMC) and density (BMD) status in children and adolescents is important for health and the prevention of diseases. Bone metabolic activity could provide early information on bone mass development. Our aim was to describe bone mass and metabolism markers according to age and Tanner stage in adolescents. METHODS: Spanish adolescents (n = 345; 168 males and 177 females) aged 12.5-17.5 years participated in this cross-sectional study. Body composition variables were measured by dual-energy X-ray absorptiometry. Serum osteocalcin (n = 101), aminoterminal propeptide of type I procollagen (n = 92) and ß-isomerized C-telopeptides (ß-CTX, n = 65) and urine samples (ß-CTX; n = 237) were analyzed by electrochemiluminescence immunoassay. RESULTS: Analysis of covariance showed that females had higher values for BMC and BMD in most of the regions. Both males and females had a significant decrease in bone markers while sexual maturation increases (all p < 0.05). Males had an increased bone turnover compared to females (all p < 0.05, except for urine ß-CTX in Tanner ≤IV). CONCLUSION: Our results support the evidence of dimorphic site-specific bone accretion between sexes and show an increased bone turnover in males, suggesting higher metabolic activity.