Neurofibromatosis Type 1: Diagnostic Timelines in Children. / Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia.

BACKGROUND AND OBJECTIVES: The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion. PATIENTS AND METHODS: Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. RESULTS: We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history. CONCLUSION: Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children.

Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study.

BACKGROUND: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. PATIENTS AND METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. RESULTS: The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001). CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.

Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study. / Hallazgos cutáneos no considerados criterios diagnósticos de la NF1. Estudio de casos y controles.

BACKGROUND: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. PATIENTS AND METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. RESULTS: The prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001). CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.

Split-thickness skin grafts obtained from adjacent hairy skin for reconstructing auricular concave surfaces after Mohs surgery.

BACKGROUND: Reconstruction of large auricular defects with full-thickness skin grafts (FTSG) is a commonly reported option, but less attention has focused on the advantages and indications of using split-thickness skin grafts (STSG) in the ear. OBJECTIVE: We sought to report our experience using STSG for repair of defects located on the auricular concave surfaces, highlighting the utility of choosing the adjacent hairy skin as donor site. METHODS: We performed a retrospective review of all Mohs micrographic defects on the auricular concave surfaces repaired with STSG obtained from the adjacent hairy skin, between January 2017 and July 2018 at our institution. RESULTS: A total of 16 patients with defects on the auricular concavities resulting from removal of non-melanoma skin cancer were reconstructed with STSG taken from the adjacent hairy skin. Only one patient experienced partial graft failure and no other complications were observed after 6-month follow-up. CONCLUSION: Split-thickness skin grafts are suitable for reconstructing concave areas in the ear, providing good cosmetic results with a simple, cost-effective and easily reproducible technique. Choosing the adjacent hairy skin as a donor area shortens the operative and postoperative time, and allows the procedure to be performed in a single surgical field.

Satisfaction and perceived effectiveness in patients on subcutaneous immunotherapy with a high-dose hypoallergenic pollen extract.

This study was designed to determine the level of satisfaction, tolerance and perceived effectiveness by patients in the first pollen season after starting treatment with Alergovit(®). For this purpose, a nationwide, retrospective, multicentre and cross-sectional observational study was carried on 256 patients. Perceived effectiveness by the patients was measured using a visual analogue scale and was clinically significant in 92.4% of the patients. The satisfaction level was evaluated with a specific questionnaire. 32.5% of the patients were totally satisfied with Allergovit(®) and 48.8% reported a high degree of satisfaction. The treatment was well tolerated by 99.2% of the patients. Our results demonstrate that subcutaneous immunotherapy with Allergovit(®) is effective and well-tolerated in routine clinical practice.

Pathogenesis: common pathways between hidradenitis suppurativa and Crohn disease. / Etiopatogenia: nexos en común entre la hidradenitis supurativa y la enfermedad de Crohn.

Both hidradenitis suppurativa and Crohn disease are considered chronic inflammatory diseases due to immune dysregulation. The high prevalence of Crohn disease patients diagnosed with hidradenitis suppurativa suggests the existence of common pathogenic links. The present literature review analyses the similarities and differences in the pathogenesis of the two diseases, in the search for new research and knowledge targets.

[Ultrasound in pediatric dermatology]. / Ecografía en dermatología pediátrica.

Cutaneous ultrasound is particularly useful in pediatric dermatology to diagnose numerous diseases without the need to use invasive tests. The present articles reviews some frequent dermatological entities in children whose study can be simplified through cutaneous ultrasound. This article also provides practical recommendations reported in the literature that may facilitate ultrasound examination, with special mention of benign tumoural disease, both congenital and acquired, and vascular anomalies.

An Update on Hidradenitis Suppurativa (Part I): Epidemiology, Clinical Aspects, and Definition of Disease Severity.

Hidradenitis suppurativa is a chronic inflammatory disorder that has attracted increasing attention in recent years due to underestimations of prevalence and the considerable impact of the condition on interpersonal relationships, physical appearance, self-esteem, and body image. Although hidradenitis suppurative has a significant psychological impact on patients and can even cause physical limitations when thick scarring results in limb mobility limitation, until very recently little evidence was available relating to its epidemiology, etiology, or pathogenesis. In this review, we highlight the latest advances in our understanding of the epidemiological and clinical aspects of hidradenitis suppurativa. We will also look at the different classification systems for hidradenitis suppurativa and discuss the emergence of skin ultrasound as a promising technique for monitoring the course of this chronic inflammatory disease.

Psoriasiform exfoliative erythroderma induced by golimumab.

Golimumab is a fully human anti-tumour necrosis factor (TNF)-α monoclonal antibody approved for use in the treatment of active rheumatoid arthritis, psoriatic arthritis and ankylosing spondylitis. Psoriasis induced by treatment with anti-TNF drugs is well documented, but to our knowledge, the development of clinical features of psoriasiform exfoliative erythroderma during treatment with golimumab has not been previously described.

Plant compounds for obesity treatment through neuroendocrine regulation of hunger: A systematic review.

BACKGROUND: Food intake behavior is influenced by both physiological and psychological complex processes, such as appetite, satiety, and hunger. The neuroendocrine regulation of food intake integrates short- and long-term acting signals that modulate the moment of intake and energy storage/expenditure, respectively. These signals are classified as orexigenic, those that activate anabolic pathways and the desire of eating, and anorexigenic, those that activate the catabolic pathways and a sensation of satiety. Appetite control by natural vegetal compounds is an intense area of research and new pharmacological interventions have been emerging based on an understanding of appetite regulation pathways. Several validated psychometric tools are used to assess the efficacy of these plant ingredients. However, these data are not conclusive if they are not complemented with physiological parameters, such as anthropometric evaluations (body weight and composition) and the analysis of hormones related to adipose tissue and appetite in blood. PURPOSE: The purpose of this manuscript is the critical analysis of the plant compounds studied to date in the literature with potential for the neuroendocrine regulation of hunger in order to determine if the use of phytochemicals for the treatment of obesity constitutes an effective and/or promising therapeutic tool. METHODS: Relevant information on neuroendocrine regulation of hunger and satiety for the treatment of obesity by plant compounds up to 2022 in English and/or Spanish were derived from online databases using the PubMed search engine and Google Scholar with relevant keywords and operators. RESULTS: Accordingly, the comparison performed in this review between previous studies showed a high degree of experimental heterogeneity. Among the studies reviewed here, only a few of them establish comprehensively a potential correlation between the effect of the ingredient on hunger or satiety, body changes and a physiological response. CONCLUSIONS: More systematic clinical studies are required in future research. The first approach should be to decode the pattern of circulating hormones regulating hunger, satiety, and appetite in overweight/obese subjects. Thereafter, studies should correlate brain connectivity at the level of the hypothalamus, gut and adipose tissue with the hormone patterns modulating appetite and satiety. Extracts whose mode of action have been well characterized and that are safe, can be used clinically to perform a moderate, but continuous, caloric restriction in overweight patients to lose weight excess into a controlled protocol.

Scleroderma-like syndrome due to hydroxyurea.

Scleroderma-like cutaneous changes have been reported in association with several drugs, but not with hydroxyurea (HU), to our knowledge. We report the case of a 67-year-old man who was treated with HU (hydroxycarbamide) for 12 years for a myeloproliferative disorder, and presented a progressive pruritic woody induration, symmetrically affecting both legs. He also had Gottron-like papules on the back of the metacarpophalangeal joints, and a retroauricular undifferentiated squamous cell carcinoma. On histological examination of a skin biopsy taken from the leg, massive dermal fibrosis was seen, with thickening of collagen bundles throughout the entire dermis. Six months after HU withdrawal, the skin induration resolved without scarring. Scleroderma-like syndrome has not been previously considered one of the secondary effects of HU. The evolution of our patient's condition supports a causal relationship between the HU treatment and the sclerodermiform changes of the skin.

Morphological traits and RAPD markers for characterization and identification of minor Spanish olive cultivars from the Extremadura region.

A total of 91 wild olive accessions and 31 olive cultivars growing in the Extremadura region of central-western Spain were analyzed using morphological traits and RAPD markers. We focused on three main and 16 minor Spanish olive cultivars that are recognized as native or local to the Extremadura region. The five arbitrary 10-mer primers tested on the olive cultivars gave 67 polymorphic bands, representing 91% of the total amplification products. The number of bands per primer ranged from 9 to 18, whereas the number of polymorphic bands ranged from 8 to 17. All the cultivars could be identified by a combination of three primers (OPF-6, OPA-8, and OPK-16); four cultivar-specific markers were detected. The minor local "Jariego" and "Tempranillo" cultivars showed the most distal similarities. The resulting dendrogram, using the unweighted pair-group method with arithmetic mean clustering algorithm, depicted the pattern of relationships between the local Extremadura cultivars and the cultivars from geographically connected regions. This analysis showed a correlation between most of the minor local cultivars and the geographical origin; there was no apparent clustering according to morphological traits or fruit use of olive cultivars when these parameters were used as analysis criteria.

Microsatellite marker-based identification and genetic relationships of olive cultivars from the Extremadura region of Spain.

Seventy-seven olive accessions corresponding to 25 cultivars from the Extremadura region of Spain were studied using four microsatellite or SSR markers in order to fingerprint them, and evaluate genetic similarity and relationships between local and introduced olive cultivars. The number of alleles per locus ranged from 4 to 8, with a mean of 6.25 alleles per primer pair (a total of 25 alleles). The observed heterozygosity ranged from 0.58 to 0.95, while the expected heterozygosity varied between 0.68 and 0.83. The polymorphism information content values ranged from 0.63 to 0.79. The mean polymorphism information content value of 0.70 for the SSR loci provided sufficient discriminating ability to evaluate the genetic diversity among the cultivars. The SSR data allowed unequivocal identification of all the cultivars; a combination of three SSR markers was sufficient to discriminate all 25 olive cultivars. A dendrogram was prepared, using the unweighted pair-group method with arithmetic mean clustering algorithm; it depicted the pattern of relationships between the cultivars. Most of the local cultivars grouped according to their geographic origin. No clear clustering trends were observed when the morphological traits of fruit endocarps or fruit use of cultivars were employed as analysis criteria. We conclude that there is a high level of variability among local olive cultivars from the Extremadura region at both the morphological and molecular levels; these data should be useful for identifying and distinguishing local germplasm.

Update on the treatment of superficial mycoses.

We review the current treatments available for superficial mycoses and discuss recent developments in pharmacotherapy and the most useful adjuvant treatments. Special emphasis is placed on the proper use of conventional therapies and a number of pharmacoeconomic issues. The review also offers an update on the best treatment choices in particular circumstances. Finally, we discuss some novel contributions found in the literature.

Anaesthetic-surgical guide in the treatment of ascending aorta and surgery of the ascending aorta and aortic arch. Consensus document of the Spanish Society of Cardiovascular and Endovascular Surgery and the Sociedad of Anaesthesiology, Resuscitation and Pain Therapy.

Aortic pathology is always a challenge for the clinician, and must be diagnosed and treated by a multidisciplinary team due to the technical and technological complexity of the resources used. Ongoing efforts to implement a systematic, protocolized approach involving "Aortic teams" made up of cardiologists, cardiac surgeons, vascular surgeons, anaesthesiologists and radiologists, among others are now leading to improved outcomes. The aim of this consensus document drawn up by the Aortic working groups of the Spanish Society of Anaesthesiology, Resuscitation and Pain Therapy (SEDAR) and the Spanish Society of Thoracic and Cardiovascular Surgery (SECTCV) is to disseminate a set of working protocols. The latest consensus document of the European Association for Cardio-Thoracic Surgery (EACTS) and the European Society for Vascular Surgery (ESVS) define the concept of "AORTIC TEAM"(1). The aortic team should be closely involved from diagnosis to treatment and finally follow-up, and should be formed of cardiac and vascular surgeons working together with anaesthesiologists, cardiologists, radiologists and geneticists. Treatment of aortic pathologies should be centralised in large centres, because this is the only way to effectively understand the natural course of the disease, provide the entire range of treatment options under one umbrella and treat potential complications. A streamlined emergent care pathway (24/7 availability), adequate transportation and transfer capabilities, as well as rapid activation of the multidisciplinary team must be available. In light of the complexity and constant evolution of therapeutic options, we present this first version of the Anaesthesiology and surgical guidelines for surgery of the ascending aorta and aortic arch. Some questions will no doubt remain unanswered, and future versions will include new techniques that, though implemented in some centres, are still not widely recommended.

Pulmonary function measures predict mortality differently in IPF versus combined pulmonary fibrosis and emphysema.

The composite physiologic index (CPI) was derived to represent the extent of fibrosis on high-resolution computed tomography (HRCT), adjusting for emphysema in patients with idiopathic pulmonary fibrosis (IPF). We hypothesised that longitudinal change in CPI would better predict mortality than forced expiratory volume in 1 s (FEV(1)), forced vital capacity (FVC) or diffusing capacity of the lung for carbon monoxide (D(L,CO)) in all patients with IPF, and especially in those with combined pulmonary fibrosis and emphysema (CPFE). Cox proportional hazard models were performed on pulmonary function data from IPF patients at baseline (n = 321), 6 months (n = 211) and 12 months (n = 144). Presence of CPFE was determined by HRCT. A five-point increase in CPI over 12 months predicted subsequent mortality (HR 2.1, p = 0.004). At 12 months, a 10% relative decline in FVC, a 15% relative decline in D(L,CO) or an absolute increase in CPI of five points all discriminated median survival by 2.1 to 2.2 yrs versus patients with lesser change. Half our cohort had CPFE. In patients with moderate/severe emphysema, only a 10% decline in FEV(1) predicted mortality (HR 3.7, p = 0.046). In IPF, a five-point increase in CPI over 12 months predicts mortality similarly to relative declines of 10% in FVC or 15% in D(L,CO). For CPFE patients, change in FEV(1) was the best predictor of mortality.