Triorchidism: genetic and imaging evaluation in an adult male

We report the results of imaging and cytogenetic studies in a case of tri- orchidism in a 54 years old male without any associated anomaly. A scrotal ultrasonography revealed the presence of two testes within the left hemiscrotum with complete septa- tion and echotexture and vascular flow pattern similar to the vascular flow of the normal right testis. There was no focal abnormal echogenicity suggesting malignancy. Scrotal MRI confirmed two soft-tissue structures in the left hemiscrotum with normal signal intensity at T1w and T2w images. Both testes had a tunica albuginea with low-signal intensity. Cytogenetic analysis resulted in normal male karyotype 46XY. Array-CGH analysis detected the presence of two interstitial rearrangements: a ~120 Kb deletion of chro- mosome 1 and a ~140 Kb deletion of chromosome 16. Currently there are little details on the functions of both genes

L'appagamento di desiderio e il ristabilimento affettivo nel sogno infantile: nuove osservazioni

ItRiassunto I sogni dei bambini piccoli, grazie alla loro chiarezza e semplicità di contenuto nonché diretto collegamento con le esperienze diurne, posso rappresentare una via vantaggiosa per lo studio dei fattori motivazionali e affettivi nel processo onirico, con ricadute importanti per la teoria e la ricerca sul sogno in generale. Il presente studio ha riscontrato conferme alle precedenti ricerche in particolare per quanto concerne la consistente frequenza di sogni di chiaro appagamento diretto di desiderio, la natura delle fonti diurne del sogno, la tipologia di desideri, e la presenza di diversi tipi di sogni di appagamento di desiderio. Lo studio fornisce inoltre chiari esempi di sogni che mostrano la funzione di ristabilimento affettivo del sogno, che attraverso l'appagamento allucinatorio del desiderio permette di elaborare completamente l'affetto a questo legato in veglia che era rimasto in uno stato "disturbante". Il presente studio mostra la validità di un approccio ontogenetico allo studio del processo onirico, capace di dare informazioni su diversi aspetti del sognare, ma, soprattutto di aprire la strada ad un nuovo approccio motivazionale allo studio del sogno.EnSummary (The fulfillment of wish and the affective re-establishment in young children's dreams: new observations) Dreams of young children, for their clearness of content as well as direct connection with the daytime experiences, can represent an advantageous way for the study of motivational and affective factors in the dream process, with important repercussions for dream research and the theory. The present investigation found data consistent with previous studies, in particular regarding the high frequency of direct wish-fulfillment dreams, the nature of the daytime sources of dream, the typology of wishes, and the presence of different types of wish-fulfillment dreams. The study also provides clear examples of dreams that show the function of affective reestablishment of the dream. Dream, through the experience of hallucinatory fulfillment of daytime wish, allows to resolve the associated disturbing affective state and provides an "affective reestablishment". The present study shows the validity of an ontogenetic approach to the study of the dream process, able to give information on different aspects of dreaming.FrRésumé (La gratification du désire et le rétablissement affectif dans le rêve de l'enfance : des nouvelles observations) Les rêves des jeunes enfants, par leur clarté du contenu et leur connexion directe avec l'expérience pendant la journée, peuvent être un moyen bénéfique pour l'étude des facteurs de motivation et affectifs dans le processus de rêve, avec des répercussions importantes sur la recherche et sur la théorie du rêve. La présente recherche a trouvé des données cohérentes avec des études antérieures, en particulier concernant la fréquence élevée des rêves de satisfaction des désirs directs, la nature diurne des sources du rêve, la typologie des désirs et la présence de différents types de rêves de satisfaction. de désirs. L'étude fournit également des exemples clairs de rêves qui montrent la fonction de restauration émotionnelle du rêve. Rêver, à travers l'expérience de la réalisation hallucinatoire du désir diurne, permet de résoudre l'état affectif dérangeant associé et assure une «réetablissement affective». La présente étude montre la validité d'une approche ontogénétique de l'étude du processus du rêve, capable de donner des informations sur différents aspects du rêve

Effects of Two Different Cooling Devices for Testicles Transport on Stallion Epididymal Sperm Quality

This study evaluates the effects of two cooling devices and temperature for testicles storage on epididymal sperm quality after 24 hours; different levels of seminal plasma (0% and 10%) were evaluated on sperm after recovering. Testicles from six stallions were recovered immediately after castration (2) or at the slaughterhouse (4); of the same animal, one testicle was placed in Equitainer (+8\ub0C), the other in a styrofoam box with ice (+3\ub0C). After 24 hours, the temperature of parenchyma was measured, and testicles and epididymal were weighted. Sperm were flushed from the cauda epididymides with Kenney extender, total sperm number recorded and motility and viability evaluated immediately after flushing (T0) with or without 10% SP (G1 Eq 0%, G2 Eq 10%, G3 Ice 0%, G4 Ice 10%). Motility and viability were evaluated after 24 hours and 48 hours of storage at +4\ub0C. Temperature of the parenchyma was lower in testicles stored in ice compared to Equitainer (3.2 \ub1 0.6\ub0C and 8.6 \ub1 2.5\ub0C, respectively; P < .05). Motility and viability at T0 were similar (P > .05) in G1 and G3, whereas addition of SP after recovery significantly improved motility only in samples stored in Equitainer (G2). Viability was higher (P < .05) in G2 than in G4. At T24 and T48, no differences (P > .05) in sperm quality were found between storage methods or samples with or without SP. In conclusion, equine testicles can be safely stored either at lower (+3\ub0C) or higher (+8\ub0C) temperature than +5\ub0C. This can be useful, especially when testicles are shipped in a hot climate, where devices cannot guarantee optimal refrigeration conditions

Investigation on microbiology of olive oil extraction process

Several batches of approx. 200 kg olives from Frantoio and Moraiolo cultivars were processed in an oil mill at two dates of harvesting. Samples were collected in several steps of extraction process for sensory, chemical and microbial analyses.All extracted olive oil from the second olive harvesting date was affected by sensory defects and hence classified as being “non-extra virgin”. A distinction between extra virgin olive oil and nonextra virgin olive oil obtained from both harvesting dates was explained by the volatile compounds content of olive oil samples and by yeast and mould counts collected at different processing steps

Mechanisms of endothelial cell dysfunction in cystic fibrosis

Although cystic fibrosis (CF) patients exhibit signs of endothelial perturbation, the functions of the cystic fibrosis conductance regulator (CFTR) in vascular endothelial cells (EC) are poorly defined. We sought to uncover biological activities of endothelial CFTR, relevant for vascular homeostasis and inflammation. We examined cells from human umbilical cords (HUVEC) and pulmonary artery isolated from non-cystic fibrosis (PAEC) and CF human lungs (CF-PAEC), under static conditions or physiological shear. CFTR activity, clearly detected in HUVEC and PAEC, was markedly reduced in CF-PAEC. CFTR blockade increased endothelial permeability to macromolecules and reduced trans‑endothelial electrical resistance (TEER). Consistent with this, CF-PAEC displayed lower TEER compared to PAEC. Under shear, CFTR blockade reduced VE-cadherin and p120 catenin membrane expression and triggered the formation of paxillin- and vinculin-enriched membrane blebs that evolved in shrinking of the cell body and disruption of cell-cell contacts. These changes were accompanied by enhanced release of microvesicles, which displayed reduced capability to stimulate proliferation in recipient EC. CFTR blockade also suppressed insulin-induced NO generation by EC, likely by inhibiting eNOS and AKT phosphorylation, whereas it enhanced IL-8 release. Remarkably, phosphodiesterase inhibitors in combination with a β2 adrenergic receptor agonist corrected functional and morphological changes triggered by CFTR dysfunction in EC. Our results uncover regulatory functions of CFTR in EC, suggesting a physiological role of CFTR in the maintenance EC homeostasis and its involvement in pathogenetic aspects of CF. Moreover, our findings open avenues for novel pharmacology to control endothelial dysfunction and its consequences in CF

Structure of a ubiquitin-loaded HECT ligase reveals the molecular basis for catalytic priming

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Profiles of glucose metabolism in different prediabetes phenotypes, classified by fasting glycemia, 2-hour OGTT, glycated hemoglobin, and 1-hour OGTT:An IMI DIRECT study

Differences in glucose metabolism among categories of prediabetes have not been systematically investigated. In this longitudinal study, participants (N = 2,111) underwent a 2-h 75-g oral glucose tolerance test (OGTT) at baseline and 48 months. HbA1c was also measured. We classified participants as having isolated prediabetes defect (impaired fasting glucose [IFG], impaired glucose tolerance [IGT], or HbA1c indicative of prediabetes [IA1c]), two defects (IFG+IGT, IFG+IA1c, or IGT+IA1c), or all defects (IFG+IGT+IA1c). β-Cell function (BCF) and insulin sensitivity were assessed from OGTT. At baseline, in pooling of participants with isolated defects, they showed impairment in both BCF and insulin sensitivity compared with healthy control subjects. Pooled groups with two or three defects showed progressive further deterioration. Among groups with isolated defect, those with IGT showed lower insulin sensitivity, insulin secretion at reference glucose (ISRr), and insulin secretion potentiation (P &lt; 0.002). Conversely, those with IA1c showed higher insulin sensitivity and ISRr (P &lt; 0.0001). Among groups with two defects, we similarly found differences in both BCF and insulin sensitivity. At 48 months, we found higher type 2 diabetes incidence for progressively increasing number of prediabetes defects (odds ratio &gt;2, P &lt; 0.008). In conclusion, the prediabetes groups showed differences in type/degree of glucometabolic impairment. Compared with the pooled group with isolated defects, those with double or triple defect showed progressive differences in diabetes incidence.</p

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

Recent genome-wide association studies (GWASs) have identified common genetic variants at 5p15.33, 6p21-6p22 and 15q25.1 associated with lung cancer risk. Several other genetic regions including variants of CHEK2 (22q12), TP53BP1 (15q15) and RAD52 (12p13) have been demonstrated to influence lung cancer risk in candidate- or pathway-based analyses. To identify novel risk variants for lung cancer, we performed a meta-analysis of 16 GWASs, totaling 14 900 cases and 29 485 controls of European descent. Our data provided increased support for previously identified risk loci at 5p15 (P = 7.2 × 10−16), 6p21 (P = 2.3 × 10−14) and 15q25 (P = 2.2 × 10−63). Furthermore, we demonstrated histology-specific effects for 5p15, 6p21 and 12p13 loci but not for the 15q25 region. Subgroup analysis also identified a novel disease locus for squamous cell carcinoma at 9p21 (CDKN2A/p16INK4A/p14ARF/CDKN2B/p15INK4B/ANRIL; rs1333040, P = 3.0 × 10−7) which was replicated in a series of 5415 Han Chinese (P = 0.03; combined analysis, P = 2.3 × 10−8). This large analysis provides additional evidence for the role of inherited genetic susceptibility to lung cancer and insight into biological differences in the development of the different histological types of lung cance

Global, regional, and national burden of traumatic brain injury and spinal cord injury, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.

Traumatic brain injury (TBI) and spinal cord injury (SCI) are increasingly recognised as global health priorities in view of the preventability of most injuries and the complex and expensive medical care they necessitate. We aimed to measure the incidence, prevalence, and years of life lived with disability (YLDs) for TBI and SCI from all causes of injury in every country, to describe how these measures have changed between 1990 and 2016, and to estimate the proportion of TBI and SCI cases caused by different types of injury. METHODS: We used results from the Global Burden of Diseases, Injuries, and Risk Factors (GBD) Study 2016 to measure the global, regional, and national burden of TBI and SCI by age and sex. We measured the incidence and prevalence of all causes of injury requiring medical care in inpatient and outpatient records, literature studies, and survey data. By use of clinical record data, we estimated the proportion of each cause of injury that required medical care that would result in TBI or SCI being considered as the nature of injury. We used literature studies to establish standardised mortality ratios and applied differential equations to convert incidence to prevalence of long-term disability. Finally, we applied GBD disability weights to calculate YLDs. We used a Bayesian meta-regression tool for epidemiological modelling, used cause-specific mortality rates for non-fatal estimation, and adjusted our results for disability experienced with comorbid conditions. We also analysed results on the basis of the Socio-demographic Index, a compound measure of income per capita, education, and fertility. FINDINGS: In 2016, there were 27·08 million (95% uncertainty interval [UI] 24·30-30·30 million) new cases of TBI and 0·93 million (0·78-1·16 million) new cases of SCI, with age-standardised incidence rates of 369 (331-412) per 100 000 population for TBI and 13 (11-16) per 100 000 for SCI. In 2016, the number of prevalent cases of TBI was 55·50 million (53·40-57·62 million) and of SCI was 27·04 million (24·98-30·15 million). From 1990 to 2016, the age-standardised prevalence of TBI increased by 8·4% (95% UI 7·7 to 9·2), whereas that of SCI did not change significantly (-0·2% [-2·1 to 2·7]). Age-standardised incidence rates increased by 3·6% (1·8 to 5·5) for TBI, but did not change significantly for SCI (-3·6% [-7·4 to 4·0]). TBI caused 8·1 million (95% UI 6·0-10·4 million) YLDs and SCI caused 9·5 million (6·7-12·4 million) YLDs in 2016, corresponding to age-standardised rates of 111 (82-141) per 100 000 for TBI and 130 (90-170) per 100 000 for SCI. Falls and road injuries were the leading causes of new cases of TBI and SCI in most regions. INTERPRETATION: TBI and SCI constitute a considerable portion of the global injury burden and are caused primarily by falls and road injuries. The increase in incidence of TBI over time might continue in view of increases in population density, population ageing, and increasing use of motor vehicles, motorcycles, and bicycles. The number of individuals living with SCI is expected to increase in view of population growth, which is concerning because of the specialised care that people with SCI can require. Our study was limited by data sparsity in some regions, and it will be important to invest greater resources in collection of data for TBI and SCI to improve the accuracy of future assessments