Management of undescended testis: italian experience of a single center of pediatric surgery

Abstract The undescended testis (UDT) is a common male genital anomaly. Sub fertility and testicular hypotrophy are considered the principal long-term consequences of UDT. There are two modes of treatment of UDT: hormonal and surgical treatment surgical that can be used alone or as complementary methods. Testicular histology, testicular volume (TV) and hormonal evaluation are considered to be the most relevant measure to establish future potential fertility. During follow-up each patient undergoes physical and ultrasound examination after three, twelve months and then five years. Serum level of gonadal hormone (LH, FSH, Inhibin B, LDH, Free Testosterone and DHEA) is evaluated before surgery and six months after orchidopexy. We assumed that testis biopsy is more predictive about future potential fertility than TV. Our patients have been found to have higher levels of LH and FSH and lower levels of inhibin B. To discern the presence of an effect of hormonal treatment we decided to consider the Testicular Atrophy Index (TAI), which is applicable only in unilateral UDT. Due to the necessity to consider also the case of bilateral UDT, we have introduced the normalized Testicular Atrophy Index (TAIn). Through the performed management, it has been possible to provide an estimate of the future fertility of these children. We noted that the degree of reduction in testicular volume does not seem to correlate with the severity of histological findings, nor does it seem to affect future fertility. The patients with a TAIn ≥ 20 % treated with preoperative and post-operative GnRHa therapy have a significant increase in TV after 5 years of follow-up, as shown by the relative reduction of TAIn values. Immediate and delayed post-surgery complications have not occurred. In the cases treated with hormonal therapy, a slight accentuation of secondary sexual characteristics occurs but it is completely regressed after discontinuation of the treatment (one month post-surgery). There have been no recurrences UDT after orchidopexy

Habitual Joint Dislocations and Recurrent Multiple Hernias: An Unusual Connective Tissue Disease?

Purpose: Joint laxity and hernia defects are two well-defined conditions that are rarely described in association in literature. The purpose of this study is to describe a peculiar case of connective tissue disorder, not yet defined, whose features are habitual joint dislocations associated with recurrent and multiple hernias. Methods: This is an unusual case regarding a 22 years old male adult, who presented shoulder, patellar, mandibular habitual joint dislocations associated with groin, femoral, epigastric, umbilical, spigelian and lumbar hernias. His phenotype, consisting of tall stature and joint laxity, recalls a similar-marfanoid habitus. Results: Marfan Syndrome, Ehlers-Danlos syndrome, MEN-2B were excluded by specific assessments. The aspecific clinical features of the patient do not consent the identification of an exact diagnosis. Conclusion: This medical case, characterized by joint hypermobility and multiple recurrent hernias, probably consists in an unacknowledged peculiar case of connective tissue disorder. Further investigations and identification of subjects with similar features could be surely useful to diagnostic research and definitive characterization of patient’s disease

Spigelian Hernia in a 14-Year-Old Girl: A Case Report and Review of the Literature

Spigelian hernia (SH) is a surgical rarity in children, which occurs through slit-like defects in the anterior abdominal wall adjacent to the semilunar line, the convexity lateral line which joins the nine ribs to the pubic tubercle and signs the limit between the muscular and aponeurotic portion of transversus abdominis muscle. As there are no specific symptoms and signs, the diagnosis is difficult, especially in children. We report a case of SH that comes to our observation: a 14-year-old girl presented recurrent abdominal pain associated to intermittent palpable mass in the paraumbilical region. Starting from our case report, we review the literature of pediatric SH from 2000 to 2013 and we describe the anatomy, etiology, clinical presentation, instrumental diagnosis, and surgical technique of pediatric SH

Electrophysiological and Neuropsychological Indices of Cognitive Dysfunction in Patients with Chronic Insomnia and Severe Benzodiazepine Use Disorder.

Benzodiazepine (BDZ) misuse is a growing health problem, with 1-2% of patients under BDZ treatment meeting the criteria for use disorder or dependence. Although BDZ addiction potential has been known for decades, much remains unknown its effects on brain functions. The aim of this study was to assess the neuropsychological and neurophysiological profile of a group of chronic insomniacs taking long-term high doses of benzodiazepine. We recruited 17 consecutive patients admitted to our third-level Sleep Medicine Unit for drug discontinuation (7 males, mean age 49.2 ± 11.2 years, mean education 13.7 ± 3.9 years, mean daily diazepam-equivalent BDZ: 238.1 ± 84.5 mg) and 17 gender/age-matched healthy controls (7 males, mean age 46.8 ± 14.1 years, mean education 13.5 ± 4.5 years). We performed a full neuropsychological evaluation of all subjects and recorded their scalp event-related potentials (Mismatch-Passive Oddball-Paradigm and Active Oddball P300 Paradigm). Patients with chronic insomnia and BDZ use disorder showed a profound frontal lobe executive dysfunction with significant impairment in the cognitive flexibility domain, in face of a preserved working, short and long-term memory. In patients, P300 amplitude tended to be smaller, mainly over the frontal regions, compared to controls. BDZ use disorder has a severe cognitive impact on chronic insomnia patients. Long-term high-dose BDZ intake should be carefully evaluated and managed by clinicians in this specific patient population, especially in relation to risky activities

Testicular germ cells tumors in adolescents and young adults: Management and outcomes from a single-center experience.

Objective: To investigate and compare the effectiveness of active surveillance versus post-surgical active treatment, in patients with testicular germ cells tumor (TGCT). Materials and methods: We retrospectively analyzed 52 patients who underwent surgery for TGCT from January 2009 to December 2014. All the patients were divided into two age groups: the Group A included children-adolescents from 18 months to 21 years old, while the Group B comprised young adults from 22 to 39 years old. Clinical, histopathological, therapeutic and follow-up data were collected. Results: Overall, 22 patients (42,3%) were enrolled in the Group A and 30 patients (57.7%) were categorized in the Group B. Inguinal orchiectomy was performed in all patients. Retroperitoneal lymphadenectomy was performed in 4 patients (7.7%). Post-surgical management differed based on clinical stage, resulting in active surveillance or adjuvant therapy. After an average 7 years follow-up period (range: 3.5-9.0 years), the overall survival rate is 100%. The relapse risk is significantly higher for the patients in the Group B, displaying a recurrence free-survival rate of 72% versus 95% (Group A); 11 relapses (21.1%) were recorded 2 years after surgery. Of these, 3 recurrences (12.0%) occurred in patients undergoing an active surveillance approach, while 8 (29.6%) in patients subjected to an active treatment. Conclusions: The excellent prognosis in both age groups confirms the high curability of this neoplasia. The active surveillance could represent an optimal option for low recurrence risk tumors. However, post-surgical treatments should be taken into consideration for TGCT with high risk factors, including tumor size, lymphovascular and rete testis invasion

Clinical and dopaminergic imaging characteristics of the FARPRESTO cohort of trial-ready idiopathic rapid eye movement sleep behavior patients

Introduction: Idiopathic/isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is considered the prodromal stage of alpha-synucleinopathies. Thus, iRBD patients are the ideal target for disease-modifying therapy. The risk FActoRs PREdictive of phenoconversion in iRBD Italian STudy (FARPRESTO) is an ongoing Italian database aimed at identifying risk factors of phenoconversion, and eventually to ease clinical trial enrollment of well-characterized subjects.Methods: Polysomnography-confirmed iRBD patients were retrospectively and prospectively enrolled. Baseline harmonized clinical and nigrostriatal functioning data were collected at baseline. Nigrostriatal functioning was evaluated by dopamine transporter-single-photon emission computed tomography (DaT-SPECT) and categorized with visual semi-quantification. Longitudinal data were evaluated to assess phenoconversion. Cox regressions were applied to calculate hazard ratios.Results: 365 patients were enrolled, and 289 patients with follow-up (age 67.7 & PLUSMN; 7.3 years, 237 males, mean follow-up 40 & PLUSMN; 37 months) were included in this study. At follow-up, 97 iRBD patients (33.6%) phenoconverted to an overt synucleinopathy. Older age, motor and cognitive impairment, constipation, urinary and sexual dysfunction, depression, and visual semi-quantification of nigrostriatal functioning predicted phenoconversion. The remaining 268 patients are in follow-up within the FARPRESTO project.Conclusions: Clinical data (older age, motor and cognitive impairment, constipation, urinary and sexual dysfunction, depression) predicted phenoconversion in this multicenter, longitudinal, observational study. A standardized visual approach for semi-quantification of DaT-SPECT is proposed as a practical risk factor for phenoconversion in iRBD patients. Of note, non-converted and newly diagnosed iRBD patients, who represent a trial-ready cohort for upcoming disease-modification trials, are currently being enrolled and followed in the FARPRESTO study. New data are expected to allow better risk characterization

Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: a multicentre study

Idiopathic REM sleep behaviour disorder (iRBD) is a powerful early sign of Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. This provides an unprecedented opportunity to directly observe prodromal neurodegenerative states, and potentially intervene with neuroprotective therapy. For future neuroprotective trials, it is essential to accurately estimate phenoconversion rate and identify potential predictors of phenoconversion. This study assessed the neurodegenerative disease risk and predictors of neurodegeneration in a large multicentre cohort of iRBD. We combined prospective follow-up data from 24 centres of the International RBD Study Group. At baseline, patients with polysomnographically-confirmed iRBD without parkinsonism or dementia underwent sleep, motor, cognitive, autonomic and special sensory testing. Patients were then prospectively followed, during which risk of dementia and parkinsonsim were assessed. The risk of dementia and parkinsonism was estimated with Kaplan-Meier analysis. Predictors of phenoconversion were assessed with Cox proportional hazards analysis, adjusting for age, sex, and centre. Sample size estimates for disease-modifying trials were calculated using a time-to-event analysis. Overall, 1280 patients were recruited. The average age was 66.3 \ub1 8.4 and 82.5% were male. Average follow-up was 4.6 years (range = 1-19 years). The overall conversion rate from iRBD to an overt neurodegenerative syndrome was 6.3% per year, with 73.5% converting after 12-year follow-up. The rate of phenoconversion was significantly increased with abnormal quantitative motor testing [hazard ratio (HR) = 3.16], objective motor examination (HR = 3.03), olfactory deficit (HR = 2.62), mild cognitive impairment (HR = 1.91-2.37), erectile dysfunction (HR = 2.13), motor symptoms (HR = 2.11), an abnormal DAT scan (HR = 1.98), colour vision abnormalities (HR = 1.69), constipation (HR = 1.67), REM atonia loss (HR = 1.54), and age (HR = 1.54). There was no significant predictive value of sex, daytime somnolence, insomnia, restless legs syndrome, sleep apnoea, urinary dysfunction, orthostatic symptoms, depression, anxiety, or hyperechogenicity on substantia nigra ultrasound. Among predictive markers, only cognitive variables were different at baseline between those converting to primary dementia versus parkinsonism. Sample size estimates for definitive neuroprotective trials ranged from 142 to 366 patients per arm. This large multicentre study documents the high phenoconversion rate from iRBD to an overt neurodegenerative syndrome. Our findings provide estimates of the relative predictive value of prodromal markers, which can be used to stratify patients for neuroprotective trials

Estudos Artísticos

Os quinze artigos que aqui se reúnem, nesta edição da Revista Croma, são também as propostas para uma nova política, esclarecida, crítica, e mais exigente. Podem observar-se padrões de intervenção, que partem de algumas dimensões comuns: a interpelação do observador, a criação de novos públicos, a proposta de contribuir para uma mudança alargada, partindo de questões a que não são alheias as problemáticas contemporâneas. As questões de género, a emancipação pós-colonial, a sustentabilidade, as migrações, a massificação, a globalização, o fim das ideologias e a ascensão do populismo, entre outras, constituem os contextos da atualidadeinfo:eu-repo/semantics/publishedVersio