Diagnostic support in pediatric craniopharyngioma using deep learning.

PURPOSE: We studied a pediatric group of patients with sellar-suprasellar tumors, aiming to develop a convolutional deep learning algorithm for radiological assistance to classify them into their respective cohort. METHODS: T1w and T2w preoperative magnetic resonance images of 226 Chilean patients were collected at the Institute of Neurosurgery Dr. Alfonso Asenjo (INCA), which were divided into three classes: healthy control (68 subjects), craniopharyngioma (58 subjects) and differential sellar/suprasellar tumors (100 subjects). RESULTS: The PPV among classes was 0.828±0.039, and the NPV was 0.919±0.063. Also explainable artificial intelligence (XAI) was used, finding that structures that are relevant during diagnosis and radiological evaluation highly influence the decision-making process of the machine. CONCLUSION: This is the first experience of this kind of study in our institution, and it led to promising results on the task of radiological diagnostic support based on explainable artificial intelligence (AI) and deep learning models.

Hepatitis C virus micro-elimination in vulnerable populations before and during a global pandemic.

OBJECTIVE: to analyze a hepatitis C virus (HCV) microelimination strategy targeting vulnerable populations and the influence of the pandemic on its maintenance and outcomes. METHODS: in 2018, the Hepatology Unit implemented an HCV microelimination strategy for patients attending drug addiction care centers and Psychiatry Units such as the Alcoholism Treatment Unit. These centers reported suspected or confirmed cases of HCV infection directly to the hepatologists, who, after reviewing the clinical records, cite those patients if necessary. RESULTS: from June 2018 to February 2020, hepatologists were consulted on 37 anti-HCV positive patients, 31 of them were from Drug Addiction Care Centers, 5 from the Alcoholism Disorders Unit and 1 from the Department of Psychiatry. Fibrosis stage: F0-F1, 18 (50%); F2, 9 (25%); F3, 2 (4.2%); F4, 8 (20.8%). Female sex, 6 (16.7%). Required attending: Yes, 27 (73%). 25 (92.6%) went. Outpatient consultation: 10 (27%). Required treatment: 19 (51.3%). Sustained virological response: 19 (100%). Fibrosis stage of treated patients: F0-F1, 13 (68%); F2, 2 (11%); F3, 1 (5%); F4, 3 (16%). Patients from the Psychiatry Department during 2021: 11. 9 (82%) do not need to attend; 2 (18%): their situation is unknown. CONCLUSIONS: sustained communication with centers that care for populations at risk of active HCV infection is needed to detect cases, increase adherence to treatment, and rescue patients who require screening for hepatocarcinoma.

Quality of life against seasonal vs perennial allergens: ESPRINT-15 modified in the pediatric population.

INTRODUCTION: Allergic rhinitis (AR) is a clinical syndrome characterized by IgE-mediated inflammation of the nasal mucosa. The present study investigates the quality of life (QoL) with AR among adults, using widely validated questionnaires, unlike in pediatric patients. MATERIALS AND METHODS: A cross-sectional descriptive observational study was conducted, analyzing the QoL of 102 children with AR aged between 10-15 years, belonging to two health centers (HC) in Zaragoza and two HC in Coruña. The comparison of means between the two groups is carried out using the Student's test or the Mann-Whitney test, considering a value of p˂0.05 to be significant. RESULTS: Around 102 children were studied, with a majority (59.8%) being male and a mean age of 12 years. Around 76.5% have a family history of atopy. It was found that AR is more prevalent in Zaragoza (p ˂0.005), and asthmais highly prevalent in Coruña (p ˂0.001). The most important sensitizations are pollen in Zaragoza (p ˂0.05) and dust mites in A Coruña (p ˂0.001). More treatment needs and associated comorbidities (p˂0.05) were observed in A Coruña. The results of the ESPRINT-15 show that 63% of the patients have a good QoL, 27% fair, and 8.8%, poor. Those sensitized to mites have a worse score (p = 0.02). It was found that 52% of children experienced improvement during home confinement, with no notable differences between the two populations. The use of the mask favored QoL in patients from Zaragoza (p ˂0.001). CONCLUSION: It was concluded that AR influences the QoL in pediatric patients. Greater QoL involvement, need for treatment, and comorbidities are observed in patients sensitized to dust mites compared to those sensitized to pollens. It was also observed that masks improved the symptoms, stopping patients being sensitized to pollens.

Biomechanical Analysis of Cervical Motion With a Pediatric Immobilization and Extrication Device.

OBJECTIVE: To determine the motions produced during pediatric extrication when using a system of motion estriction and extrication. METHODS: Simulation-based biomechanical analysis study conducted with inertial sensors to measure motion produced in the cervical spine of a pediatric simulator during extrication from a vehicle. RESULTS: The mean of the movements was 3.5° (SD ±1.35°). The mean time was 4 minutes 1 second (SD, ±45.09 seconds). The mean rotation toward the right was 3.34° (SD ±3.52°) and toward the left 2.62° (SD ±2.26°). The mean for lateralization was 6.24° (SD ±3.20°) toward the right and 2.50° (DE ±2.76°) toward the left. The mean for flexion was 2.36° (SD ±2.10°) and for extension 4.21° (SD ±2.15°). CONCLUSIONS: The device analyzed allows for the extrication of the pediatric patient with high levels of motion restriction of the spinal column with the Pediatric Immobilization and Extrication System.

[Capture and selectivity of zooplankton by Utricularia foliosa (Lentibulariaceae) in the Ciénaga de Paredes, Santander, Colombia]. / Captura y selectividad del zooplankton por Utricularia foliosa (Lentibulariaceae) en la Ciénaga de Paredes, Santander, Colombia.

Utricularia is a genus of carnivorous plants that capture a wide range of aquatic organisms. Most of these plants grow in environments with nutrients deficiency and have the ability to change the conditions of their microenvironment. The aim of this research was to study the selectivity in the zooplankton capture by Utricularia foliosa in the Ciénaga de Paredes. Our study was undertaken between February and November, 2014. We tried to determine if there is selection in the plant's food resources by the Czekanowski's index, and the selection degree by the Savage and Ivlev's indexes. Additionally, we studied the possible relationship between the patterns of zooplankton capture and selection, with physicochemical variables in the swamp. The Czekanowski's index showed a food selection in plant resources throughout the flood pulse, with values between 0.28 and 0.41. We also found a significant positive selection with Savage's index for Lecane sp., Alona sp., Ceriodaphnia sp., and Bosmina sp. (p < 0.05); similar results were obtained with Ivlev's index. The intensity in the selection of each captured genus varied significantly between hydrological periods and between high and low water levels in the swamp. It was possible to identify some changes in the ammonia and nitrate concentration and some variability in the electric conductivity of the swamp, which influenced the captures made by U. foliosa. This is the first paper that allows an approach to understand the selection of food resources for the species, using a selectivity index, and one of the few for the genus.

Leuprolide acetate-stimulated androgen response during female puberty.

BACKGROUND: A physiological increase in androgen levels occurs during adolescence. Measuring androgen concentrations is the best method to distinguish normal evolution processes from hyperandrogenic disorders. HYPOTHESIS: The increase in circulating androgens during puberty is inversely associated with insulin sensitivity in normal weight girls. OBJECTIVE: To assess circulating levels of ovarian androgens and anti-Müllerian hormone (AMH) at baseline and after GnRH analogue (GnRH-a) stimulation in normal pubertal girls across different Tanner stages. We also studied the association between this response and insulin sensitivity. DESIGN: Prospective study of healthy girls (6-12 years) from the local community (n = 63). METHODS: Tanner I (n = 23) subjects were assessed cross-sectionally, and Tanner II girls (n = 40) were evaluated every 6 months until they reached Tanner V. Early morning dehydroepiandrosterone sulphate (DHEA-S), AMH, sex hormone-binding globulin (SHBG), androstenedione, glucose and insulin levels were measured. A GnRH-a test (500 µg/m(2) ; sc) and oral glucose intolerance test (OGTT) were performed. Differences throughout puberty were evaluated. RESULTS: Basal and/or stimulated Testosterone DHEA-S and 17-hydroxyprogesterone (17OHP) were inversely associated with insulin sensitivity (WIBSI) from the beginning of puberty, whereas androstenedione was directly associated with gonadotrophins. AMH was inversely associated with basal and stimulated gonadotrophins and directly with insulin area under the curve (AUC) only in the early stages of puberty. 17OHP and testosterone responsiveness increased significantly during puberty in all subjects, whereas testosterone levels changed less consistently. This pattern of ovarian-steroidogenic response was most evident during mid- and late puberty. Moreover, during late puberty only, basal 17OHP, testosterone and DHEA-S were positively associated with gonadotrophins. CONCLUSION: In normal nonobese girls born appropriate for gestational age, androgen synthesis was associated with insulin sensitivity in early puberty and with LH only in late puberty.

Effect of UV-C disinfection and copper plating on healthcare-associated infections in a NICU with high ESBL infections.

INTRODUCTION: Healthcare-associated infections (HCAIs) in neonates are frequent and highly lethal, in particular those caused by extended spectrum beta-lactamase (ESBL) producing bacteria. We evaluated the beneficial effects of ultraviolet C (UV-C) disinfection and copper adhesive plating on HCAIs in the Neonatal Intensive Care Unit (NICU) of a third level paediatric hospital in Mexico City, both in combination of hand-hygiene (HH) and prevention bundles. METHODS: All NICU patients were included. There were 4 periods (P): P1: HH monitoring and prevention bundles; P2: P1+UV-C disinfection; P3: P2+Copper adhesive plating on frequent-contact surfaces and P4: Monitoring of P3 actions. RESULTS: 552 neonates were monitored during 15,467 patient days (PD). HCAI rates decreased from 11.03/1000 PD in P1 to 5.35/1000 PD in P4 (p=0.006). HCAIs with bacterial isolates dropped from 5.39/1000 PD in PI to 1.79/1000 PD in P4 (p=0.011). UV-C and copper were associated with significant HCAI prevention (RR 0.49, CI95% 0.30-0.81, p=0.005) and with lesser HCAIs with bacterial isolates (RR 0.33, CI95% 0.14-0.77, p=0.011). CONCLUSIONS: Copper adhesive plating combined with UV-C disinfection were associated with a drop in HCAI rates and with the elimination of ESBL-caused HCAIs. Hence, we propose that these strategies be considered in MDRO proliferation preventions.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.

AIM: Léri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was to improve the diagnosis of patients with suspected LWD through molecular analysis. METHODS: Twelve patients from 11 families with a clinical diagnosis of LWD were analyzed with multiplex ligation-dependent probe amplification to detect deletions and duplications of SHOX and its enhancer regions. High resolution melting and sequencing was employed to screen for mutations in SHOX coding exons. RESULTS: The molecular-based screening strategy applied in these patients allowed detection of five SHOX deletions and two previously unreported SHOX missense mutations. CONCLUSION: Molecular studies confirmed the clinical diagnosis of LWD in seven out of 12 patients, which provided support for therapeutic decisions and improved genetic counseling in their families.

Accelerated early pubertal progression, ovarian morphology, and ovarian function in prospectively followed low birth weight (LBW) girls.

AIM: To compare pubertal development in age-matched healthy girls born with low birth weight (LBW) or appropriate birth weight for gestational age (AGA). SUBJECTS AND METHODS: Girls with breast in Tanner stage II and normal body mass index were followed for 3 years with a complete physical exam, bone age, pelvic ultrasound, and measurement of gonadal hormones using a leuprolide test. RESULTS: Forty-one girls (AGA 25/LBW 16) were followed up for 3 years. By 3 years, they had similar bone age, adjusted height, and body composition. In LBW girls, breast Tanner stage advanced faster during the first 2 years of follow-up, which was associated with higher serum androgens. Hirsutism score, ovarian volume, and number of follicles between AGA and LBW were not different nor was age of menarche. By the third year, basal and poststimulated levels of gonadotropins and androgens anti-Müllerian hormone and inhibin B were similar in both groups and did not show differences related to birth weight or degree of catch-up growth. CONCLUSION: LBW recruits showed a slightly faster breast development but no differences in androgen excess signs, internal genitalia, and gonadal hormonal patterns.

[Variability of the menstrual cycle in Mexican women according to the weight and the distribution of the adipose fabric]. / Variabilidad del ciclo menstrual en mujeres mexicanas según el peso y la distribución del tejido adiposo.

BACKGROUND: Menstrual cycle characteristics have been studied throughout the world in several populations. OBJECTIVE: To analyze the frequency of occurrence of menstruation, duration and volume loss during it and its relationship with age, weight and body fat distribution in Mexican women. MATERIAL AND METHODS: prospective, cross-sectional and descriptive study conduced in women which accompanied patients to hospital consultation, with menstrual cycles considered normal by them, age was documented; body mass index (BMI) and waist hip ratio (WHR) were calculated. They were questioned about: periodicity of the cycle, duration, number and type of pads used per day, and the quantity of menstrual bleeding was calculated. STATISTICAL ANALYSIS: Central tendency and dispersion measurements, as well as percentages were calculated. For the comparison between the groups ANOVA was used and Pearson correlation analysis was done. RESULTS: 161 women were studied. Average age was 23.9 +/- 6.1 years, BMI 26.1 +/- 4.3 and WHR 0.9 +/- 0.1. The cycle periodicity was 29.3 +/- 3.1 days, being 86.4% between 28 and 30 days. The periodicity of menstrual bleeding was affected neither by age nor by BMI and WHR. Bleeding duration was 4.9 +/- 1.6 days, and the most common was from 4-7 days, only in those older than 35 years was from 1-3 days. The calculated average volume was 151.5 +/- 81.0 mL. In those with BMI < 20 loses were between 81and 120 ml, and in those with BMI > 35 from 121-160 ml; 85.5% of women with WHR < or = 0.85 had loses between 81 and 160 ml and 39.3% of those with WHR > 0.85. CONCLUSION: BMI greater than 35 is associated with more abundant bleeding, and android distribution of body fat with smaller bleeding.

Therapeutic effect of α7 nicotinic receptor activation after ischemic stroke in rats.

Nicotinic acetylcholine α7 receptors (α7 nAChRs) have a well-known modulator effect in neuroinflammation. Yet, the therapeutical effect of α7 nAChRs activation after stroke has been scarcely evaluated to date. The role of α7 nAChRs activation with PHA 568487 on inflammation after brain ischemia was assessed with positron emission tomography (PET) using [18F]DPA-714 and [18F]BR-351 radiotracers after transient middle cerebral artery occlusion (MCAO) in rats. The assessment of brain oedema, blood brain barrier (BBB) disruption and neurofunctional progression after treatment was evaluated with T2 weighted and dynamic contrast-enhanced magnetic resonance imaging (T2 W and DCE-MRI) and neurological evaluation. The activation of α7 nAChRs resulted in a decrease of ischemic lesion, midline displacement and cell neurodegeneration from days 3 to 7 after ischemia. Besides, the treatment with PHA 568487 improved the neurofunctional outcome. Treated ischemic rats showed a significant [18F]DPA-714-PET uptake reduction at day 7 together with a decrease of activated microglia/infiltrated macrophages. Likewise, the activation of α7 receptors displayed an increase of [18F]BR-351-PET signal in ischemic cortical regions, which resulted from the overactivation of MMP-2. Finally, the treatment with PHA 568487 showed a protective effect on BBB disruption and blood brain vessel integrity after cerebral ischemia.

Leptin and IGF-I/II during the first weeks of life determine body composition at 2 years in infants born with very low birth weight.

Rapid early growth is associated with adverse metabolic outcome. The aim of this study was to determine whether there are differences in body composition (BC) between very-low-birth-weight preterm (VLBWPT) infants born appropriate for gestational age (AGA) and small for gestational age (SGA) and whether these differences relate to first-year growth. Twenty-six VLBWPT (15 AGA and 11 SGA). The BC was analyzed by dual X-ray absorptiometry at 2 years, and insulin-like growth factors (IGFs) I and II and leptin were administered weekly for 8 weeks and at 1, 3, 6, and 12 months. At 24 months, the VLBW SGA infants were lighter and had less peripheral fat and lean mass than VLBW AGA infants. In all patients, the percentage of fat mass correlated inversely with the change in weight [standard deviation scores (SDS)] from newborn to 2 and 4 weeks and the 1-month leptin and lean mass (SDS) correlated inversely with the change in weight (SDS) from newborn to 2, 4, and 8 weeks and with 4-week IGF-I and 8-week IGF-II. Lean mass (SDS) inversely correlated with 6-month IGF-I and directly correlated with 1-week and 3-month IGF-I in SGA VLBW infants only. A longer follow-up period will show whether additional differences will develop later.

[Interests and perspectives of first and last year medical students]. / Intereses y perspectiva sobre la carrera de medicina: un contraste entre estudiantes de medicina de primero y séptimo año.

BACKGROUND: The interests that motivate medical students to study this career are diverse and they may change during the seven years of study. In Chile, 22 universities offer medicine and the number of graduated students has increased by more than 50% over the last 10 years. AIM: To determine the motivational profile of medical students at admission, and at the end of their career. SUBJECTS AND METHODS: A voluntary anonymous survey was applied to 275 first and 140 seventh year medical students from one traditional public and two private schools. RESULTS: The main reason for applying to medical school was social interest (68.7%), followed by interest in science and academia. Thirty six percent of students from seventh year would not study medicine again. In the seventh year, the interest in medical care persists in 88% of students, followed by academic interests in 64%. Only 24% had research interests. Fifty nine and 57% of students projected their medical work in private and public hospital settings, respectively. Only 11% projected themselves as doing research. Sixty nine percent of students would like to receive more information about post graduate education. CONCLUSIONS: There is a low interest in research and a high percentage of seventh year students that would not apply to medicine again. Medical schools should perform a systematic analysis of students' interests to improve faulty areas.

Exclusive breastfeeding abandonment in adolescent mothers: a cohort study within health primary services.

OBJECTIVE: to analyze the factors associated with the abandonment of exclusive breastfeeding in adolescent mothers during the first 6 months of the infant's life. METHOD: this is a cohort study of 105 adolescent mothers followed at the child's 2-, 4- and 6-months of age. The epidemiological approach was adopted, supported by the positivism paradigm. Exposure variables were those directly related to breastfeeding and sociodemographic, family, maternal and child conditions. Data were collected by interview and analyzed by bivariate and multivariate statistics. The Hazard Ratio (HR) was calculated with a 95% confidence interval (95%CI). The tests were performed, admitting an error type I of 5%. The confidentiality of data was ensured. RESULTS: the cumulative incidences of exclusive breastfeeding abandonment were 33.3%, 52.2% and 63.8%, at 2, 4 and 6 months, respectively. The variables that remain in the final multivariate model were maternal perception of milk quality (HR=11.6; 95%CI 3.6-37.5), pacifier use (HR=1.9; 95%CI 1.2-3.3), and time of first breastfeeding session (HR=1.4; 95%CI 0.5-12.9). CONCLUSION: the highest abandonment rate occurs before the fourth month. A perception of having poor-quality milk by the adolescent mother and pacifier use are factors that favor the abandonment of exclusive breastfeeding. Determining the factors associated with breastfeeding abandonment may allow their timely management, especially in more vulnerable populations. KEYPOINTS: (1) The highest abandonment rate of exclusive breastfeeding occurs before the fourth month. (2) A perception of having poor-quality milk may increase the abandonment of exclusive breastfeeding. (3) Pacifier use may increase the abandonment of exclusive breastfeeding. (4) Knowing the factors associated with exclusive breastfeeding may allow for timely management of them. (5) Exclusive breastfeeding promotion strategies must be adopted early, before and after birth.

Analysis of the Emotional Exhaustion Derived From Techno-Stress in the Next Generation of Qualified Employees.

This study analyses the emotional exhaustion of students inhigher education, derived from the extremely technology-relatedstrain associated to the current COVID-19 pandemic in a conservation of resources' approach. Technostress, as source of emotional exhaustion, was investigated in a sample of 333 students in a medium size public university in Spain. Data was collected in May 2020, during the COVID lockdown. After literature review, a structural model was developed, linking technostress with emotional exhaustion. Results confirm the expected cause-effect relationships. In addition, the study reveals two mediator variables that must be considered when managing students' suffering, perceived stress and intrapersonal conflicts. This study contributes to the academic literature in the field of managing and mitigating suffering. They do so by providing both new knowledge and empirical evidence on the effects of technostress in the new generations that will soon join the working life.

Employees' emotional awareness as an antecedent of organizational commitment-The mediating role of affective commitment to the leader.

Commitment has been perceived as a strategic topic in organizations due to its positive effect on retaining talent, increasing performance, or boosting employees' innovative behavior. However there are many focis of commitment in the workplace, which has represented a challenge to human resources management, who need implement measures to improve the employee's commitment. Recent research has suggested a need to conduct studies about commitment, namely antecedents and the relationship between different focis, to understand the dynamic and directionality between them. Hence, the purpose of this work is to analyze how employees' emotional awareness relates with two focis of commitment (the leader and the organization), also assessing the mediating role of affective commitment to the leader. The study uses structural equation modeling and Lisrel to test the hypotheses considering the multidimensionality of organizational commitment (affective; normative; and continuance), employees emotional awareness (understanding self-emotions; self-control when facing criticism; and understanding others' emotions), and the affective commitment to the leader, under the scope of Social Exchange Theory. The Mackinon's Z Test was used to assess the mediation role of affective commitment to the leader. The sample is composed for 403 employees from two multinational companies. The results provide empirical evidence about the mediating role of affective commitment to the leader in the relationship between employees' emotional awareness and organizational commitment, and the employees' emotional awareness as an antecedent of commitment. The implications for theory and practice are discussed.

Effects of Carbonated Beverage Consumption on Oral pH and Bacterial Proliferation in Adolescents: A Randomized Crossover Clinical Trial.

Sugary soft drinks modify salivary pH and favor bacterial proliferation and are associated with the development of caries. Information on the effects of consuming carbonated drinks without sucrose is limited. Methods: In this crossover clinical trial, salivary and dental biofilm pH were determined at 0, 5, 10, 15, 30, 45, and 60 min after the participants (n = 18) ingested a soft drink with sucrose, a soft drink with aspartame/acesulfame K, carbonated water, and plain water on different days. Dental biofilm cultures were conducted at 0- and 120-min. Results: Salivary pH decreased significantly after ingestion of the sucrose-containing soft drink when compared with the other types of beverages (median difference, -0.3--0.4, p ≤ 0.05), and the greatest difference was found with mineral water. A greater bacterial proliferation (Colony Forming Units [CFU]) was observed after ingestion of the drink with sucrose (↑310 × 103 CFU, p ≤ 0.01), followed by the drink with aspartame/acesulfame K (↑160 × 103 CFU, p ≤ 0.01) and carbonated water (↑60 × 103 CFU, p ≤ 0.05). No significant changes in bacterial proliferation were observed after the consumption of natural water. Conclusions: Ingestion of sucrose-containing soft drinks favors the acidification of salivary pH and the bacterial proliferation of dental biofilm. Although to a lesser extent, soft drinks containing aspartame/acesulfame K also favor bacterial proliferation.

Profile of Daughters and Sisters of Women With Polycystic Ovary Syndrome: The Role of Proband's Glucose Tolerance.

CONTEXT: First-degree relatives of women with polycystic ovary syndrome (PCOS) present hormonal and metabolic alterations compared to girls unrelated to PCOS. It is unknown whether glucose intolerance in the PCOS proband confers a more severe metabolic predisposition on their first-degree relatives. OBJECTIVE: To determine whether glucose tolerance status in women with PCOS is associated with worsened glucose metabolism and sex hormone levels in their peripubertal daughters or sisters. DESIGN: Cross-sectional study. SETTING: Seven academic centers in North America, South America, and Europe. PATIENTS: Sixty-four pairs of women with PCOS and their daughters or younger sisters aged between 8 and 14 years were recruited. Twenty-five mothers or older sisters with PCOS were glucose intolerant (GI) and 39 were normal glucose tolerant (NGT). MAIN OUTCOME MEASURES: Beta-cell function estimated by the insulin secretion-sensitivity index-2 (ISSI-2) during an oral glucose tolerance test and by the disposition index during a frequently sampled IV glucose tolerance test. Free testosterone and 17-hydroxyprogesterone (17-OHP) levels. RESULTS: Being related to a GI PCOS proband was associated with a lower ISSI-2 (P-value = 0.032) after adjusting for ethnicity, body mass index z-score, and pubertal stage. They also had higher free testosterone (P-value = 0.011) and 17-OHP levels compared to girls with an NGT proband, the latter becoming significant after adjusting for confounders (P-value = 0.040). CONCLUSIONS: Compared to first-degree female relatives of women with PCOS and NGT, first-degree relatives of women with PCOS and GI display lower beta-cell function and hyperandrogenemia, putting them at higher risk of GI and PCOS development.

Development of a bioengineered skin-humanized mouse model for psoriasis: dissecting epidermal-lymphocyte interacting pathways.

Over the past few years, whole skin xenotransplantation models that mimic different aspects of psoriasis have become available. However, these models are strongly constrained by the lack of skin donor availability and homogeneity. We present in this study a bioengineering-based skin-humanized mouse model for psoriasis, either in an autologous version using samples derived from psoriatic patients or, more importantly, in an allogeneic context, starting from skin biopsies and blood samples from unrelated healthy donors. After engraftment, the regenerated human skin presents the typical architecture of normal human skin but, in both cases, immunological reconstitution through intradermal injection in the regenerated skin using in vitro-differentiated T1 subpopulations as well as recombinant IL-17 and IL-22 Th17 cytokines, together with removal of the stratum corneum barrier by a mild abrasive treatment, leads to the rapid conversion of the skin into a bona fide psoriatic phenotype. Major hallmarks of psoriasis were confirmed by the evaluation of specific epidermal differentiation and proliferation markers as well as the mesenchymal milieu, including angiogenesis and infiltrate. Our bioengineered skin-based system represents a robust platform to reliably assess the molecular and cellular mechanisms underlying the complex interdependence between epidermal cells and the immune system. The system may also prove suitable to assess preclinical studies that test the efficacy of novel therapeutic treatments and to predict individual patient response to therapy.

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

OBJECTIVE: Pituitary adenomas (PA) are rare in young patients, and additional studies are needed to fully understand their pathogenesis in this population. We describe the clinical and genetic characteristics of apparently sporadic PA in a cohort of young patients. DESIGN: Clinical and molecular analysis of 235 patients (age ≤ 30 years) with PA. Clinicians from several Spanish and Chilean hospitals provided data. METHODS: Genetic screening was performed via next-generation sequencing and comparative genomic hybridization array. Clinical variables were compared among paediatric, adolescent (<19 years) and young adults' (≥19-30 years) cohorts and types of adenomas. Phenotype-genotype associations were examined. RESULTS: Among the total cohort, mean age was 17.3 years. Local mass effect symptoms were present in 22.0%, and prolactinomas were the most frequent (44.7%). Disease-causing germline variants were identified in 22 individuals (9.3%), more exactly in 13.1 and 4.7% of the populations aged between 0-19 and 19-30 years, respectively; genetically positive patients were younger at diagnosis and had larger tumour size. Healthy family carriers were also identified. CONCLUSIONS: Variants in genes associated with syndromic forms of PAs were detected in a large cohort of apparently sporadic pituitary tumours. We have identified novel variants in well-known genes and set the possibility of incomplete disease penetrance in carriers of MEN1 alterations or a limited clinical expression of the syndrome. Despite the low penetrance observed, screening of AIP and MEN1 variants in young patients and relatives is of clinical value.