Recommendations on the Use of Injectable Poly-L-Lactic Acid for Skin Laxity in Off-Face Areas

Injectable poly-L-lactic acid (PLLA) is a biodegradable synthetic polymer that stimulates collagen production, leading to gradual volume restoration. The treatment of sagging skin in body areas is still a big challenge, as there are few aesthetic procedures aiming to improve it. This article provides recommendations on the use of PLLA in the treatment of skin laxity in off-face areas, as the neck, décolletage, arms, abdomen, buttocks, and thighs, including the patient selection, product preparation, and injection techniques. The use of PLLA is a promising method for the treatment of skin laxity in corporal areas, improving body contour and appearance. Further investigation is needed to better understand the efficacy and durability of PLLA in non-facial indications and to provide the best evidence for optimal patient outcomes. J Drugs Dermatol. 2019;18(9):929-935.

A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function.

We investigated a small Dutch family with a bleeding diathesis, prolonged prothrombin, and activated partial thromboplastin times, in whom no classifying diagnosis was made. The 2 affected relatives had severely decreased in vitro thrombin generation, and levels of tissue factor pathway inhibitor (TFPI) were strongly increased. To identify the genetic cause of the bleeding diathesis, we performed whole exome sequencing analysis of all living relatives. We found a novel gain-of-function mutation in the F5 gene (c.C2588G), which leads to an aberrant splicing of F5 and ultimately to a short factor V protein (missing 623 amino acids from the B domain), which we called factor V Amsterdam. Factor V Amsterdam binds to TFPI, prolonging its half-life and concentration. This is the second report of an association between a shorter form of factor V and increased TFPI levels, resulting in severely reduced thrombin generation and a bleeding tendency.

Androgenic hormone profile of adult women with acne.

Acne in adult women is a hard-to-manage frequent disease with many relapse cases. It mostly interferes with quality of life and causes major social and metabolic losses for patients. This is a transversal retrospective study and the aim was to standardize the research on circulating androgenic hormone levels and to detect hyperandrogenic states early, showing the frequency and the pattern of the altered hormones, useful resources to correctly evaluate each patient. In this study 835 women above 15 years of age, with acne or aggravation cases, were analyzed. The aim was to verify the percentage of androgen examinations with levels above normal. The levels of the hormones dehydroepiandrosterone sulfate, dehydroepiandrosterone (DHEA), dehydrotestosterone, androstenedione and total testosterone were measured in all patients. The evaluation of the hormone profile showed that 54.56% of the patients had hyperandrogenism, and the levels of DHEA were most frequently elevated. Therefore, in the face of the importance of hyperandrogenism in the pathogenesis of acne, standardizing the research of the hormone profile is paramount for the treatment and control of relapses in case of a surge of acne breakouts during a woman's adult life.

Static and dynamic high-resolution ultrasound analysis of tissue distribution of poly-L-lactic acid particles during subdermal application in two different presentations.

Background: All the changes the skin goes through, peaking at flaccidity, occur in the dermis and hypodermis, leading to loss of support and a lower capacity to totally accommodate displacements or any loss of subjacent volume, bringing about the onset of furrows and sagging. Improvements in facial sagging may be obtained with the administrations of substances like poly-L-lactic acid (PLLA), which triggers a tissue response through a controlled inflammatory reaction. Objectives: Compare the tissue distribution of the particles of PLLA of both products available in Brazil (Sculptra® and Rennova Elleva®) during and immediately after their subdermal administrations, with 22G cannulas, through high-resolution ultrasound imaging. Methods: A total of four patients aged between 18 and 64 years had the inner part of the upper arms divided into eight quadrants and treated with 16 ml of each product, reconstituted to correspond to 9.5 mg/ml. The sites where PLLA was injected were analyzed through the high-resolution ultrasound during (dynamic imaging) and immediately after the procedures (static imaging). Results: During Sculptra® injection, high-resolution ultrasound revealed that its distribution did not follow the trajectory of the cannula homogeneously. It was characterized by a more hyperechogenic central portion and an anechogenic peripheral portion, forming discrete posterior acoustic shadowing at times. Regarding Rennova ELLEVA® injection, the high-resolution ultrasound analysis showed a homogeneous distribution of the product across the subcutaneous tissue following the trajectory of the cannula without formation of significant interface with the surrounding tissue, maintaining the sonographic aspect of thinly granulated hyperechogenic deposits, with strong posterior acoustic shadowing during and immediately after its administration. Conclusion: Static and dynamic high-resolution ultrasound imaging show a more homogenous distribution of PLLA particles with the use of Rennova ELLEVA® when compared with Sculptra®, which may induce the formation of capsules and a subsequent more dispersed fibroplasia, with larger area of action and a possible better therapeutic result. The interest of this article lies in its originality, highlighting the differences in the tissue distribution of two different brands of PLLA particles, which can impact the clinical response to the two products - which we are researching and seems to interfere with the increase in dermal thickness.

Analysis of satisfaction patient and increased dermis thickness by medical evaluation and USG by Rennova Elleva in the treatment of sagging skin on the inner part of the arms.

Introduction: The flaccidity of the skin is provoked by changes caused by the chronological ageing of the skin, such as epidermal, dermal, and hypodermic thinning, which, in turn, are aggravated by photo ageing and by several other factors such as, for example, limited diets low in proteins, rapid weight loss and low BMI, liposuction, post-pregnancy and stretch marks, which facilitate the loss of skin elasticity, even in young patients. Its treatment remains a major therapeutic challenge, as there are few procedures designed to effectively improve it. Objective: To evaluate the satisfaction patient and increased dermis of Rennova Elleva in the treatment of cutaneous flaccidity of the inner part of the arms. Methods: Twenty six women aged between 31 and 60 years old complaining of skin flaccidity in the medial area of the arms, with a severity score between: 1 (11 patients), 2 (10 patients) and 3 (5 patients) according to the scale Investigator Assessment Skin Laxity Scoring System (IASLSS), were treated with two applications of poly-L-lactic acid (PLLA) with intervals of 45 days between them. Results: Forty five days after the second application of PLLA (D90), all patients presented a moderate to high degree of satisfaction with the treatment, with good tolerability and no adverse effects. Improvement was confirmed by high-resolution ultrasound with an increase in dermal thickness between 23% and 70% (average value: 46%). Discussion: Rennova Elleva® PLLA promoted an improvement in skin flaccidity and an increase in dermal thickness with good to excellent tolerability by patients. Conclusion: The new presentation of PLLA proved to be effective and safe for the treatment of skin flaccidity.

Epidemiological profile of rosacea in dermatology outpatient clinics in Brazil: an observational report from the Brazilian study group on rosacea.

BACKGROUND: Rosacea prevalence varies worldwide and there is a lack of information in Brazil. OBJECTIVES: To describe the epidemiological profile of rosacea in subjects who consulted in dermatological outpatient clinics in Brazil. MATERIALS & METHODS: A cross-sectional study was conducted in 13 dermatological outpatient clinics across the country. Patients with rosacea diagnosis were eligible for the study according to the investigator's clinical assessment. Clinical, social and demographic data were collected. The overall and regional rosacea prevalence was calculated, and association with baseline characteristics was analysed. RESULTS: A total of 3,184 subjects were enrolled, and rosacea prevalence was 12.7%. The southern region of Brazil presented a higher prevalence, followed by the southeast. The subjects in the rosacea group were older than those without rosacea (52.5 ±14.9 vs. 47.5 ±17.5; p<0.001). Moreover, the rosacea group was associated with Fitzpatrick's phototypes I and II, Caucasian ethnicity, a family history of rosacea, and facial erythema, however, no association with gender was found. The most prevalent clinical sign and clinical subtype in rosacea patients were erythema and erythematotelangiectatic, respectively. CONCLUSION: Rosacea is highly prevalent in Brazil, mostly in the southern region, associated with phototypes I and II and a family history.

Treatment of old cervical bilateral facet dislocation: Case report and literature review.

Late diagnosis of cervical bilateral facet dislocation is rare and contributes to concerns in the management of these patients. We present a case of a 44-year-old woman presented 8 months after a trauma with persistent neck pain, without neurological deficits. A bilateral C5-C6 facet dislocation was identified. The patient was treated with a combined C5-C6 approach: posterior facet joints release, anterior discectomy and fusion, bilateral posterior fixation. Surgery was performed under intraoperative neurophysiological monitoring. The postoperative period was uneventful, and the patient presented functional improvement. Late surgical treatment of bilateral cervical facet dislocation is safe and feasible. Combined procedures are needed for proper reduction and stabilization of the spine. Intraoperative neurophysiological monitoring adds value to this technique contributing to good outcomes.

Dosages of androgenic hormones in adolescent patients with severe acne.

OBJECTIVE: Acne vulgaris in female adolescents, when severe or accompanied by other signs of androgenization, may represent a sign of hyperandrogenemia often underdiagnosed, which will have harmful consequences for adult life. The objective of this cross-sectional and retrospective study was to demonstrate the incidence of hormonal changes in the cases of female adolescents with severe or extensive acne, with or without other signs of hyperandrogenism, and propose a hormonal research pattern which should be indicated in order to detect early hyperandrogenemia. METHODS: The medical records of 38 female patients aged between 9 and 15 years old with grade II and/or III acne were analyzed. The dehydroepiandrosterone sulfate, dehydroepiandrostenedione, and androstenedione, total testosterone, and dihydrotestosterone sulfate hormones were required prior to initiation of treatment. The hormonal dosages were performed in the serum after at least 3 hours of fasting by means of radioimmunoassay tests. RESULTS: Of the 38 patients included, 44.7% presented changes in androgen levels (hyperandrogenemia), and the two most frequently altered hormones were DHEA and androstenedione, with the same incidence (23.6%). CONCLUSIONS: The correct and early diagnosis provides an effective and agile approach, including antiandrogen therapy, with the purpose of avoiding the reproductive and metabolic repercussions, besides controlling the inflammatory picture and avoid aesthetic complications.

Biomarker data visualisation for decision making in clinical trials.

OBJECTIVE: To understand how visualization of biomarker data is used for decision making in clinical trials, and identify problems with and suggest improvements to this process. METHODS: We carried out semi-structured interviews with 18 professionals involved in various aspects of developing or using visualizations of biomarker data for decision making in clinical trials. We used an inductive thematic analysis to identify implicit and explicit ideas within the data captured from the interviews. RESULTS: We identified 6 primary themes, including: how visualizations were used in clinical trials; the importance of having a clear understanding of the underlying data; the purpose or use of the visualization, and the properties of the visualizations themselves. The results show that participants' 'trust' in the visualization depends on access to the underlying data, and that there is currently no standard or straightforward way to support this access. CONCLUSIONS: Incorporating information about data provenance into biomarker-related visualizations used for decision making in clinical trials may increase users' trust, and therefore facilitate the decision making process.

Characteristics and management of Asian skin.

Color differences in skin are due to the amount and distribution of epidermal melanin. The number of melanocytes is almost the same in all skin types, but higher phototypes exhibit more melanocytes, which produce more melanin and melanosomes that are individually distributed throughout the keratinocyte layers. This characteristic ensures a natural, significant photoprotection in darker skins. Asians are a population with various skin phototypes, ranging from type III to IV Fitzpatrick's classification in Chinese and Japanese to type IV and V in Indian and Pakistani people. Asian skin tends to present postinflammatory hyperpigmentation, melasma, lentigines and freckles, nevus of Ota, and Hori nevus. The main skin diseases reported in Asians are acne, atopic dermatitis, and viral infections. Wrinkles and skin thickness, early signs of aging in Caucasians, are less evident in Asian skin. However, pigmentary changes occur earlier. Additionally, this ethnic population is increasing worldwide. The aim of this study is to show the importance of studying the characteristics of Asian skin for the better management of skin diseases in this population, which are being increasingly observed in doctor's offices. Based on a broad review of the medical literature, we report the characteristics of Asian skin, as well as some dyschromias and common skin disorders in this ethnic group. The objective of the article is to study the characteristics of Asian skin and differences in relation to other ethnic groups to achieve improved clinical and cosmetic management of diseases and other skin disorders. This article will discuss the concept of beauty in different ethnic groups, treatments with lasers and other light sources, and cosmiatric treatments in Asian skin. An extensive review of the literature was performed using the databases Scielo and Bireme, from Medline and Lilacs sources, over the last 50 years. The keywords used were as follows: Asian skin, ethnic skin, melanin. Due to the peculiarities of each ethnic group, this article demonstrates the importance of studying the characteristics of Asian skin to elucidate improved cosmiatric approaches for these patients.

The effect of inspiratory muscle training on swimming performance, inspiratory muscle strength, lung function, and perceived breathlessness in elite swimmers: a randomized controlled trial.

BACKGROUND: According to studies performed on terrestrial sports athletes, inspiratory muscle training (IMT) may improve athletes' performance. However, evidence of its effects in elite swimmers is lacking. Therefore, we aimed to assess the effect of 12-week IMT on swimming performance, inspiratory muscle strength, lung function, and perceived breathlessness in elite swimmers. METHODS: Elite swimmers from the main FC Porto swimming team (in competitive training for a minimum period of 3 years) were invited to participate and were randomly allocated into intervention or control groups. The intervention group performed 30 inspiratory efforts, twice a day, 5 times a week, against a pressure threshold load equivalent to 50% of maximal inspiratory pressure, whereas the control group performed inspiratory efforts at the same frequency but against a 15% load. Swimming performance was assessed through time trials, converted into points according to International Swimming Federation Points Table. Outcomes were evaluated before and following the 12-week study period. RESULTS: A total of 32 participants (22 girls) were included. The median age was 15 and 14 years old for the intervention (n = 17) and control (n = 12) groups, respectively. No differences were found in swimming performance (P = .271), inspiratory muscle strength (P = .914), forced vital capacity (P = .262), forced expiratory volume in 1st second (P = .265), peak expiratory flow (P = .270), and perceived breathlessness (P = .568) between groups after 12 weeks of intervention. CONCLUSION: Twelve weeks of IMT had no effect on swimming performance, lung function, and perceived breathlessness in elite swimmers. These results may be related to swimming-specific factors and/or an applied load insufficient to achieve training overload that could induce further improvements.

Can We Assess the Success of Surgery for Degenerative Spinal Diseases Using Patients' Recall of Their Preoperative Status?

BACKGROUND: Patients' recall of their preoperative status is seldom used to assess surgical outcomes because of concerns about inaccuracy and bias. The present study aimed to measure the significance of this recall bias and its repercussion on patients' recollection of their preoperative status. METHODS: Patients submitted to surgery due to degenerative spine diseases over a 1-year period (n = 198) were included in this study. Each patient completed the EuroQol Five-Dimensional Questionnaire (including a visual analog scale), Core Outcome Measures Index (COMI) for neck (including neck pain and shoulder/arm pain numeric rating scale [NRS]), COMI back (including back pain and buttock/leg pain NRS), Neck Disability Index, and Oswestry Disability Index preoperatively. At 1 year after surgery, the patients were asked to complete 2 sets of the same questionnaires, one set regarding their postoperative status and the other set regarding their recall of their preoperative status. RESULTS: There was poor to moderate agreement between recalled and collected preoperative scores for all patient-reported outcome measures. Patients' recollection of their preoperative status was accurate for patients who underwent cervical spine surgery, but not for those who underwent lumbar spine surgery. Patients satisfied with the outcome after lumbar spine surgery recalled significantly worse scores compared with the actual preoperative scores. CONCLUSIONS: Using patients' recall of their preoperative status may lead to overestimation of the effectiveness of surgery, particularly for lumbar spine surgery. The self-assessed effectiveness of surgery interferes with the recollection of baseline status.

How Does Minimally Invasive Transforaminal Lumbar Interbody Fusion Influence Lumbar Radiologic Parameters?

BACKGROUND: Minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) has become a popular method of interbody fusion. Clinical outcomes after single-level MIS-TLIF have been reported, but few studies have focused on the radiologic changes in the segmental parameters of the operated and adjacent segments and in lumbar lordosis. METHODS: From March 2009 to September 2016, 117 patients who underwent a single-level MIS-TLIF surgery for lumbar degenerative disease were enrolled in this retrospective study. The anterior disc height (ADH), posterior disc height (PDH), and segmental angle (SA) of the operated and adjacent levels and lumbar lordosis (LL) were evaluated on radiographs obtained pre- and postoperatively at 6- to 12-month follow-up visits. Cage-related parameters including fusion and subsidence rates were analyzed on postoperative computed tomography scans. Clinical assessment used validated outcome scores such as the Oswestry Disability Index questionnaire and the Odom criteria. RESULTS: ADH and PDH of the operated segment increased significantly after surgery, but no significant changes were seen in the SA of that level. Statistically significant decreases were observed in the PDH of both adjacent segments and increases in the adjacent superior SA. LL showed a slight but statistically significant improvement after surgery that was mostly correlated with a postoperative increase in the adjacent superior SA (r = 0.58; P < 0.001). No significant correlations were found between clinical and radiologic results. CONCLUSIONS: Single-level MIS-TLIF increased disc height but not the SA at the operated level. LL improvement after surgery was mainly associated with the increase of the cranial segmental angle.

Terapia tópica para prevenção e tratamento da radiodermatite aguda das mamas: revisão integrativa da literatura / Topical treatment for prevention and management of acute radiation dermatitis in breast cancer patients: an integrative review

Introdução: A radioterapia desempenha um importante papel adjuvante ao tratamento cirúrgico do câncer de mama, pois diminui as taxas de recorrência local e aumenta a sobrevida global. Entretanto, até 95% das pacientes expostas à radiação ionizante desenvolverão algum grau de radiodermatite. O presente estudo revisa a literatura referente às terapias tópicas disponíveis para prevenção e tratamento da radiodermatite aguda das mamas, sintetizando as evidências disponíveis e auxiliando a tomada de decisão clínica. Métodos: Revisão integrativa da literatura publicada nos últimos 10 anos, utilizando as bases de dados LILACS, Medline e Biblioteca Cochrane. Foram utilizados os descritores neoplasias da mama, radiodermatite, higiene da pele e creme para a pele. Resultados: Dos 158 artigos encontrados, 48 foram incluídos nesta revisão. Foram identificadas 40 diferentes terapias tópicas que foram agrupadas em sete categorias para facilitar a análise e interpretação dos dados: fitoterápicos, hormônios/vitaminas/fatores de crescimento, corticoesteroides, barreira (filme ou creme), ácido hialurônico, curativos à base de prata e outros. Conclusões: Existe evidência científica proveniente de ensaios clínicos randomizados de boa qualidade embasando a indicação dos corticosteroides tópicos de alta (valerato de 17-betametasona) e média potência (furoato de mometasona 0,1%), assim como de filmes barreira como Mepitel®, Mepilex Lite® e Hydrofilm®, no manejo da radiodermatite aguda das mamas. As demais terapias não mostraram benefícios na prevenção e/ou tratamento da radiodermatite ou têm evidência científica limitada, contraindicando ou restringindo sua utilização na prática clínica.

Introduction: Radiotherapy plays an important adjuvant role in the surgical treatment of breast cancer by reducing locoregional recurrence and improving overall survival. However, up to 95% of patients experience some degree of radiodermatitis. This study aims to review the literature regarding topical agent therapies in preventing and treating acute radiation dermatitis in breast cancer patients. Methods: Integrative review of LILACS, Medline and Cochrane Library databases. We searched for original articles published between 2010 and 2020, including the descriptors breast neoplasms, radiodermatitis, skincare, and skin cream. Results: The initial search returned 158 articles. After screening for eligibility, 48 articles were included. Forty different topical agent therapies were identified and grouped into seven categories to facilitate data analysis: herbal medicines, hormones/vitamins/growth factors, topical corticosteroids, barrier products (film or cream), hyaluronic acid, silver-based dressings and others. Conclusions: This review identifies that topical corticosteroids of high (betamethasone-17-valerate) and medium potency (mometasone furoate 0.1%), as well as barrier films such as Mepitel®, Mepilex Lite®, and Hydrofilm®, are effective in managing acute breast radiodermatitis. The other topical agent therapies did not show benefits in preventing and/or treating acute radiodermatitis or have limited evidence.

Tratamento de siringomas periorbitários: revisão da literatura científica nos últimos 5 anos / Treatment of periorbital syringomas: review of scientific literature in the last 5 years

Introdução: O siringomas são tumores anexais benignos com caraterísticas histopatológicas decorrentes dos ductos écrinos, em forma de pápulas amareladas ou cor da pele, de 1-3 mm, comumente na região periorbitária inferior, podendo causar problemas cosméticos importantes. O objetivo do tratamento é melhorar a aparência, através da destruição completa do tumor usando métodos minimamente invasivos e inclusa cirurgia. Existem na literatura múltiplas opções de tratamento com vários graus de sucesso, porém pouco se conhece sobre a eficácia. Em geral, a remoção completa não é bem-sucedida, e têm sido descritos efeitos colaterais, sendo a recorrência o mais frequente. Métodos: Trata-se de uma revisão narrativa de literatura, de publicações científicas no período de 2014-2019. Resultados: Após revisar 45 artigos, e identificar os publicados nos últimos cinco anos que tiveram registro de número de pacientes, descrição de tratamento, escalas de avaliação dos resultados e acompanhamento, foram selecionados seis artigos. Do número total de seis artigos, foram encontrados: uma revisão sistemática, e cinco estudos retrospectivos, sendo um comparativo. Foi designado um número para cada artigo analisado, e coletados o número de pacientes incluídos, tratamento realizado, escalas de avaliação e resultados, complicações e conclusões. Conclusões: Os siringomas periorbitários ainda são um desafio terapêutico, e até agora nenhum tratamento demostrou ser consistentemente eficaz. O laser CO2 continua sendo a primeira escolha de tratamento quando usado fracionado, e a eletrocoagulação intralesional representa uma segunda alternativa com resultados moderados e menor risco de complicações. Novos tratamentos como Laser Erbium Laser Erbium Yttrium Aluminum Garnet, Neodymium-Doped Yttrium Aluminum Garnet e monoterapia com toxina botulínica A poderiam ser boas alternativas. Estudos prospetivos comparativos são necessários.

Introduction: Syringomas are benign adnexal tumors with histopathological characteristics arising from the eccrine ducts, in yellowish or skin-colored papules, 1-3 mm, commonly in the lower periorbital region, which can cause important cosmetic problems. The goal of treatment is to improve appearance by destroying the tumor using minimally invasive methods and including surgery. There are multiple treatment options in the literature with varying degrees of success, but little is known about their effectiveness. Complete removal is unsuccessful, and side effects have been described, recurrence being the most frequent. Methods: This is a narrative review of the literature of scientific publications in the period 2014-2019. Results: After reviewing 45 articles and identifying those published in the last five years that had a record of the number of patients, treatment description, scales of evaluation of results and follow-up, six articles were selected. Of the total number of six articles, we found: a systematic review and five retrospective studies, one being a comparative one. A number was assigned to each article analyzed, and the number of patients included, treatment performed, assessment scales and results, complications and conclusions were collected. Conclusions: Periorbital syringomas are still a therapeutic challenge, and so far, no treatment is consistently effective. The CO2 laser remains the first choice of treatment when used fractionally, and intralesional electrocoagulation represents a second alternative with moderate results and a lower risk of complications. New treatments such as Laser Erbium Laser Erbium Yttrium Aluminum Garnet, Neodymium-Doped Yttrium Aluminum Garnet and botulinum toxin A monotherapy could be good alternatives. Comparative prospective studies are needed.

Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism.

BACKGROUND: Family studies have shown a strong heritability component for venous thromboembolism (VTE), but established genetic risk factors are present in only half of VTE patients. AIM: To identify genetic risk factors in two large families with unexplained hereditary VTE. METHODS: We performed whole exome sequencing in 10 affected relatives of two unrelated families with an unexplained tendency for VTE. We prioritized variants shared by all affected relatives from both families, and evaluated these in the remaining affected and unaffected individuals. We prioritized variants based on 3 different filter strategies: variants within candidate genes, rare variants across the exome, and SNPs present in patients with familial VTE and with low frequency in the general population. We used whole exome sequencing data available from 96 unrelated VTE cases with a positive family history of VTE from an affected sib study (the GIFT study) to identify additional carriers and compared the risk-allele frequencies with the general population. Variants found in only one individual were also retained for further analysis. Finally, we assessed the association of these variants with VTE in a population-based case-control study (the MEGA study) with 4,291 cases and 4,866 controls. RESULTS: Six variants remained as putative disease-risk candidates. These variants are located in 6 genes spread among 3 different loci: 2p21 (PLEKHH2 NM_172069:c.3105T>C, LRPPRC rs372371276, SRBD1 rs34959371), 5q35.2 (UNC5A NM_133369.2:c.1869+23C>A), and 17q25.1 (GPRC5C rs142232982, RAB37 rs556450784). In GIFT, additional carriers were identified only for the variants located in the 2p21 locus. In MEGA, additional carriers for several of these variants were identified in both cases and controls, without a difference in prevalence; no carrier of the UNC5A variant was present. CONCLUSION: Despite sequencing of several individuals from two thrombophilic families resulting in 6 candidate variants, we were unable to confirm their relevance as novel thrombophilic defects.

Acne in adult women and the markers of peripheral 3 alpha-diol G activity.

BACKGROUND: Acne in adult women is a frequent hard-to-manage disease with many relapse cases. It mostly interferes with the quality of life of patients, bringing them major metabolic and social losses. As androgenic hormones play a very important role in the acne pathogenesis, the early diagnosis of hyperandrogenic states is very useful for the proper evaluation of each patient and for a better choice of therapeutic management. Defining a pattern for laboratory profile analysis is important for the control of relapses of acne breakouts in adult women, which lately has been the aim of many published studies. AIM: To establish the relation between 3 alpha-diol G levels and acne in female patients with normal androgenic status without menstrual dysfunctions. PATIENTS/METHODS: The evaluation of serum 3 alpha-androstanediol glucuronide levels through an enzymatic immunoassay method (Androstanediol Glucuronide ELISA Kit) for a direct quantitative measurement in 26 patients with grade II and III acne, ages ranging from 13 to 50. RESULTS: Among the analyzed patients, 83% had grade II acne, and among this total, 60% were aged 14 or over. According to age, 12 studied patients showed serum 3 alpha-diol G levels within normal range and 11 patients had increased levels. CONCLUSIONS: A total of 60% of adult women with acne present increased levels of androgens and among those with normal levels and without menstrual dysfunctions, 50% show an increase in 3 alpha-diol G. Therefore, a pharmacological approach with anti-androgenic drugs for acne therapy in most of these patients is advisable.

Introduction to the analysis of next generation sequencing data and its application to venous thromboembolism.

Despite knowledge of various inherited risk factors associated with venous thromboembolism (VTE), no definite cause can be found in about 50% of patients. The application of data-driven searches such as GWAS has not been able to identify genetic variants with implications for clinical care, and unexplained heritability remains. In the past years, the development of several so-called next generation sequencing (NGS) platforms is offering the possibility of generating fast, inexpensive and accurate genomic information. However, so far their application to VTE has been very limited. Here we review basic concepts of NGS data analysis and explore the application of NGS technology to VTE. We provide both computational and biological viewpoints to discuss potentials and challenges of NGS-based studies.