Sociodemographic profile, health-related behaviours and experiences of healthcare access in Italian transgender and gender diverse adult population.

PURPOSE: Information on the general health of transgender and gender diverse (TGD) individuals continues to be lacking. To bridge this gap, the National Institute of Health in Italy together with the National Office against Racial Discriminations, clinical centres, and TGD organizations carried out a cross-sectional study to define the sociodemographic profile, health-related behaviours, and experiences of healthcare access in Italian TGD adult population. METHODS: A national survey was conducted by Computer-Assisted Web Interviewing (CAWI) technique. Collected data were compared within the TGD subgroups and between TGD people and the Italian general population (IGP). RESULTS: TGD respondents were 959: 65% assigned female at birth (AFAB) and 35% assigned male at birth (AMAB). 91.8% and 8.2% were binary and non-binary TGD respondents, respectively. More than 20% of the TGD population reported to be unemployed with the highest rate detectable in AMAB and non-binary people. Cigarette smoking and binge drinking were higher in the TGD population compared with IGP (p < 0.05), affecting TGD subgroups differently. A significant lower percentage of AFAB TGD people reported having had screening for cervical and breast cancer in comparison with AFAB IGP (p < 0.0001, in both cases). Over 40% was the percentage of AFAB and non-binary TGD people accessing healthcare who felt discriminated against because of their gender identity. CONCLUSIONS: Our results are a first step towards a better understanding of the health needs of TGD people in Italy in order to plan the best policy choices for a more inclusive public health.

Medical versus neurosurgical treatment in ICH patients: a single center experience.

BACKGROUND AND AIMS: The effect of surgical treatment for spontaneous intracerebral hemorrhage (ICH) remains uncertain. We conducted an observational retrospective cohort study on supra-centimeter spontaneous ICH treated with either neurosurgical or conservative management. The baseline demographics and risk factors were correlated with in-hospital mortality and 3 and 6-month survival rates stratified by management. METHODS: We included all patients with evidence of spontaneous ICH > 1 cm detected by CT and admitted between august 2020 and march 2021 to the "SMM" Hospital in Perugia. RESULTS: Onehundredandtwentytwo patients were included in the study, and 45% (n.55) were surgically treated. The mean age was 71.9 ± 15.3, and 61% (n.75) were males. Intra-hospital mortality ended up being 31% (n.38), 3 months-survival was 63% (n.77) and 6 months-survival was 60% (n.73). From the multivariate analysis of the surgical patients versus medical patient, we observed that the surgical patients were younger (67.5 ± 14.9 vs 75.5 ± 14.7 y; OR 0.87; Cl 95% 0.85-0.94; p 0.001), with greater ICH volume at the onset (61 ± 39.4 cc vs 51 ± 64 cc; OR 1.03; Cl 95% 1.005-1.07; p 0.05), more midline shift (7.61 ± 5.54 mm vs 4.09 ± 5.88 mm; OR 1.37; Cl 95% 1.045-1.79; p 0.023), and a higher ICH score (3 vs 2 mean ICH score; OR 21.12; Cl 95% 2.6-170.6; p 0.004). Intra-hospital mortality in the surgical group and in the conservative treatment group was respectively 33% vs 30%, 3 month-survival was 64% vs 63% and 6 month- survival were 60% in both groups. CONCLUSIONS: Our patient cohort shows no overall benefit from surgery over conservative treatment, but surgical patients were younger and had larger ICH volume.

Apparent autistic traits in transgender people: a prospective study of the impact of gender-affirming hormonal treatment.

PURPOSE: We evaluated differences in Autism Spectrum Quotient (AQ) scores between a sample of hormone-naïve transgender and cisgender people and the impact of gender-affirming hormonal treatment (GAHT) on AQ scores across time. Furthermore, we assessed alexithymia and social anxiety as possible mediators of changes in AQ scores. METHODS: A cross-sectional comparison between cisgender and transgender people before GAHT and a prospective study on the effects of GAHT over time were performed. Transgender and cisgender people completed several psychometric tests. A total sample of 789 persons (n = 229 cismen; n = 172 ciswomen; n = 206 transmen; n = 182 transwomen) referring to the Florence and Rome Gender Clinics between 2018 and 2020 was enrolled. Of these, 62 participants referring to the Florence Gender Clinic were evaluated in a prospective study at baseline and 12 months after GAHT. RESULTS: Groups showed significant differences in terms of autistic traits: ciswomen showed lower scores of AQ, while cismen reported higher scores of AQ than all other groups. Transgender individuals showed significant higher levels of Gender Dysphoria (GD), body uneasiness, alexithymia and social anxiety, compared to cisgender ones. No significant differences in general psychopathology were found between groups. Across time, transmen and transwomen showed a significant reduction in AQ scores. The decrease in alexithymia and social anxiety after GAHT did not predict the change in AQ scores. CONCLUSIONS: The autistic traits in our sample may represent an epiphenomenon of GD rather than being part of an Autism Spectrum Disorder (ASD) condition, since they significantly decreased after 12 months of GAHT.

SIGIS-SIAMS-SIE position statement of gender affirming hormonal treatment in transgender and non-binary people.

PURPOSE: Gender Incongruence (GI) is a marked and persistent incongruence between an individual's experienced and the assigned gender at birth. In the recent years, there has been a considerable evolution and change in attitude as regards to gender nonconforming people. METHODS: According to the Italian Society of Gender, Identity and Health (SIGIS), the Italian Society of Andrology and Sexual Medicine (SIAMS) and the Italian Society of Endocrinology (SIE) rules, a team of experts on the topic has been nominated by a SIGIS-SIAMS-SIE Guideline Board on the basis of their recognized clinical and research expertise in the field, and coordinated by a senior author, has prepared this Position statement. Later on, the present manuscript has been submitted to the Journal of Endocrinological Investigation for the normal process of international peer reviewing after a first internal revision process made by the SIGIS-SIAMS-SIE Guideline Board. RESULTS: In the present document by the SIGIS-SIAMS-SIE group, we propose experts opinions concerning the psychological functioning, gender affirming hormonal treatment, safety concerns, emerging issues in transgender healthcare (sexual health, fertility issues, elderly trans people), and an Italian law overview aimed to improve gender non-conforming people care. CONCLUSION: In this Position statement, we propose experts opinions concerning the psychological functioning of transgender people, the gender-affirming hormonal treatment (full/partial masculinization in assigned female at birth trans people, full/partial feminization and de-masculinization in assigned male at birth trans people), the emerging issues in transgender health care aimed to improve patient care. We have also included an overview of Italian law about gender affirming surgery and registry rectification.

MPFL reconstruction and tibial tuberosity transposition in patients with patellar instability: May it troubleshots also trochlear dysplasia?

PURPOSE: This study aimed to highlight short- and medium-term outcomes of combined medial patello-femoral ligament (MPFL) reconstruction and anterior tibial tuberosity (ATT) transposition surgery in patients with recurrent patellar instability and different degrees of trochlear dysplasia. METHODS: Between January 2014 and May 2019, 25 patients with patellar instability underwent a surgical procedure combining the lowering/transposition of the ATT and the MPFL reconstruction. Each patient were preoperative assessed by Kujala score, International Knee Documentation Committee (IKDC), Tegner activity level scale. The assessment of instability predisposing factors was carried out with patellar height, tibial tuberosity-trochlear groove (TT-TG) distance, trochlear dysplasia, sulcus angle, patellar tilt and MPFL injuries. Functional outcomes were evaluated with Kujala, IKDC and Tegner scores at 3, 6 and 12 months after surgery. RESULTS: The average age of the patients was 20 years (range 13-43 years). Pre- operative Caton-Deschamps index was pathological in 10 (40%). Sulcus angle was elevated in 13 patients (52%) and TT-TG distance was irregular in 17 patients (68%). Trochlear dysplasia was present in 13 patients (9 type A, 3 type B, 1 type C according to Dejour's Classification). No re-dislocation occurred during the follow-up. There was a significant increase in the Kujala, IKDC and Lysholm scores after 3, 6 and 12 months, and the results were compared for the different follow-up times and patient's trochlear dysplasia degree. CONCLUSION: This prospective observational longitudinal study identified good clinical outcomes in patients who underwent MPFL reconstruction and ATT transposition for patellar instability. Finally, the different risk factors for patellar instability examined, particularly the presence of trochlear dysplasia, did not significantly influence the final functional results, which range from good to excellent without re-dislocation episodes.

Epidemiology and microbiology of prosthetic joint infections: a nine-year, single-center experience in Pavia, Northern Italy.

BACKGROUND: Prosthetic joint infections (PJIs) are a growing matter of concern due to their economic and social burden on health systems. In Italy, surgical data on PJIs are available in a national registry, but microbiological data are still scarce. MATERIALS AND METHODS: We performed a retrospective study at a single center with records of patients treated for primary PJIs of knee or hip from January 1, 2011, to May 30, 2018. Patients with infections of osteosynthesis means and external devices were excluded, as well as PJI recurrences and polytrauma patients. Infections were diagnosed according to IDSA and MSIS criteria. We collected data on demographics, risk factors and microbiology. All patients seen at our center undergo blood cultures and synovial fluid cultures, periarticular biopsy and prosthesis sonication by Bactosonic®. This was used only after 2014. Bacterial identification is achieved by MALDI-TOF, PHOENIX 100 and standard methods. Chi-square or Fisher tests were used to test statistical differences in proportions. RESULTS: Fifty-one patients matched our inclusion criteria. Of these, 16 (31.4%) were enrolled before 2014. The median age was 68.5 (range 22-88). The most common risk factors were obesity (34%), diabetes (21%) and chronic kidney disease (14%). Seventeen patients were diagnosed with a culture-negative PJIs (33.3%). Staphylococcus aureus was the most commonly isolated pathogen (14/51, 27.5%), followed by coagulase-negative staphylococci (7/51, 13.7%). Methicillin-resistant S. aureus rate was 28.6%. The rate of culture-negative PJIs dropped from 56 to 22% after 2014, with a significant difference between the two time periods (p = 0.016). CONCLUSIONS: The introduction of sonication dramatically increased our diagnostic accuracy. Our microbiological data are in line with those from other studies conducted in Italy.

The role of six biomarkers in diagnosis of hemophilic arthropathy: review of the literature.

The aim of our narrative review of the literature is to identify the role of six important biomarkers: synovial fluid thrombomodulin, fibroblast-like synoviocytes, synovial tissue growth factor , vascular endothelial growth factor in synovium and peripheral blood, urinary C-terminal telopeptide of type II collagen, and synovial fluid tumor necrosis factor alpha. These urinary, serum and synovial biomarkers illustrated should be evaluated in patients with hemophilic arthropathy for early diagnosis of hemophilic arthropathy, because they have important implications in the development of arthrofibrosis, altered inflammatory response and bleeding. Moreover, better knowledge of their biological activity is important to identify possible new biological treatment options.

Knee arthroplasty system with medialized keel: Seven-year follow-up of a pioneer cohort.

BACKGROUND: In this clinical investigation, a new design with a progressive increased keel medialization according to the size was implanted. The cohort of patients was followed up for seven years. METHODS: From May 2012 to November 2012, we implanted 70 total knee arthroplasties in 69 patients. The mean age of the patients was 76.2 years. We followed up 56 patients for seven years; we evaluated the patients at six and 60 months after surgery by Patient Reported Outcome Measures score. During the seven-year follow-up, all patients were clinically re-evaluated using the Knee Society Score and the Forgotten Joint Score. All patients underwent a preoperative and postoperative radiographic investigation. At the last follow-up the presence of any radiolucency lines was checked using the Knee Society Total Knee Arthroplasty Radiographic Evaluation and Scoring System. RESULTS: The patients defined the surgical results as excellent in 66% of the cases, very good in 23%, good in five percent. The analysis of the functional data at seven years, performed by administering the Forgotten Joint Score, showed average values of 70.4. The clinical analysis, performed through the Knee Society Score at the same follow-up, showed average values of 90.4. The seven-year radiological analysis revealed the presence of radiolucency lines in 20 implants. The sum of the line widths never exceeded the critical value of nine millimeters, always remaining below four millimeters. Only one patient was revised. CONCLUSIONS: The results showed an excellent outcome of this design. The medialization of the tibial keel showed good bone fixation and component alignment at seven-year follow-up.

Time trends, frequency, characteristics and prognosis of short-duration transient global amnesia.

BACKGROUND AND PURPOSE: Transient global amnesia (TGA) is characterized by a sudden onset of anterograde amnesia lasting up to 24 h. One major differential for TGA is transient epileptic amnesia, which typically lasts < 1 h. However, TGA can also be short in duration and little is known about the time trends, characteristics and prognosis of TGA cases lasting < 1 h. METHODS: We compared the clinical features of TGA ascertained in two independent cohort studies in Oxfordshire, UK [Oxford cohort 1977-1987 versus Oxford Vascular Study (OXVASC) 2002-2018] to determine the time trends of clinical features of TGA. Results were validated in another independent contemporary TGA cohort in Italy [Northern Umbria TGA registry (NU) 2002-2018]. We compared the risk factors, clinical features and long-term prognosis (major cardiovascular events, recurrent TGA and seizure/epilepsy) of patients presenting with episodes lasting < 1 h versus those lasting ≥ 1 h. RESULTS: Overall, 639 patients with TGA were included (114 Oxford cohort, 100 OXVASC, 425 NU). Compared with the original Oxford cohort, there were more cases with TGA lasting < 1 h in OXVASC [32 (32.0%) vs. 9 (8.8%)] and NU (11.8% vs. 8.8% in Oxford cohort). In both OXVASC and NU, patient age, vascular risk factors and clinical features were largely similar between those with TGA lasting < 1 h versus those lasting ≥ 1 h. Moreover, there was no difference in the long-term risk of seizure/epilepsy or major cardiovascular events between TGA lasting < 1 h versus TGA lasting ≥ 1 h. CONCLUSIONS: Short-duration TGA episodes (<1 h) were not uncommon and were more frequent than in earlier studies. The clinical features and long-term prognosis of short-duration TGA did not differ from more typical episodes lasting ≥ 1 h.

Primary total knee replacement in hemophiliacs: experience of a single institution over fourteen years of surgical procedures.

This retrospective study reports clinical and functional orthopedic outcomes and complications after 14 primary total knee replacement (TKR) performed between 2000 and 2014. The mean age at surgery was 42 years (range 26-59), with a removal-free survival of 100% at the end of follow-up (months 109.85). The KSS score was 49.64 pre-operatively (range 31-63) and 78.14 at final follow-up (range 45-90), the KSS function score was 64.64 pre-operatively (range 35-80) and 84.57 at final follow-up (range 45-100). According to this study, there are three main factors that can influence long-term and early surgical outcomes: post-operative fibrosis, a previous synovectomy and presence of inhibitors. Even if our results are slightly suboptimal compared to those obtained in non-hemophilic patients, this study shows that TKR is an effective surgical procedure in hemophiliacs.

Psychological characteristics of Italian gender dysphoric adolescents: a case-control study.

PURPOSE: Gender dysphoria (GD) is associated with clinically significant distress and impairment in social, scholastic, and other important areas of functioning, especially when early onset is reported. The aim of the present study is to assess the psychopathological features associated with GD in adolescence, comparing a group of gender dysphoric adolescents (GDs) with a group of non-referred adolescents (NRs), in terms of body uneasiness, suicide risk, psychological functioning, and intensity of GD. METHODS: A sample of 46 adolescents with GD and 46 age-matched NRs was evaluated (mean ± SD age = 16.00 ± 1.49 and 16.59 ± 1.11 respectively, p > 0.05). Subjects were asked to complete the Body Uneasiness Test (BUT) to explore body uneasiness, the Youth Self Report (YSR) to measure psychological functioning, the Multi-Attitude Suicide Tendency Scale (MAST) for suicide risk, and the Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults (GIDYQ-AA) for GD assessment. RESULTS: Adolescents with GD reported significantly higher levels of body uneasiness (BUT-GSI, F = 380.13, p < 0.0001), as well as a worse psychological functioning (YSR, F = 13.06 and p < 0.0001 for "total problem scale" and F = 12.53, p = 0.001 for "internalizing" scale) as compared to NRs. When YSR subscales were considered, GDs showed significantly higher scores in the "withdrawal/depression", "anxiety/depression", and "social problems" (all p < 0.0001). In addition, GDs showed significantly higher levels in the "attraction to death" and "repulsion by life" scales and lower scores in the "attraction to life" scale (all p < 0.0001). Finally, GIDYQ-AA score was significantly lower (meaning a higher level of gender dysphoria symptoms) in GDs vs. NRs (p < 0.0001). CONCLUSIONS: GD adolescents reported significantly higher body dissatisfaction and suicidal risk compared to NRs. In addition, results confirmed a significant impairment in social psychological functioning in adolescents with GD.

Who has the worst attitudes toward sexual minorities? Comparison of transphobia and homophobia levels in gender dysphoric individuals, the general population and health care providers.

PURPOSE: To date, few studies have addressed attitudes toward transgender individuals. In addition, little is known about health care providers' (HCP) attitudes toward sexual minorities. The aim of the present study is to compare attitudes toward homosexual and transgender individuals between gender dysphoric individuals (GDs), general population controls (C) and HCP. METHODS: A total of 310 subjects were considered, including 122 GDs (63 transwomen and 59 transmen), 53 heterosexual HCP (26 males and 27 females) and 135 C. Participants completed the Modern Homophobia Scale (MHS) and the Attitudes Toward Transgendered Individuals Scale (ATTI) in order to assess attitudes toward gay men and lesbian women and toward transgender individuals, respectively. In addition, GDs completed the Gender Identity/Gender Dysphoria Questionnaire (GIDYQ-AA) and ATTI to measure, respectively, gender dysphoria levels and internalized transphobia. Religious attitudes were evaluated by means of the Religious Fundamentalism Scale (RFS), and Discrimination and Stigma Scale (DISC-12) was used to measure perceived discrimination. RESULTS: (1) Men showed significantly higher levels of homophobia and transphobia when compared to women (p < 0.001); (2) perceived discrimination was higher in lesbian women compared to gay men and in transwomen compared to transmen (p < 0.001 and p < 0.05, respectively); and (3) religious fundamentalism was associated with both homophobia and transphobia (both p < 0.001). CONCLUSIONS: Our results underline the need to promote awareness and acceptance of the sexual minorities, who are more at risk of discriminatory attitudes, which are strongly dependent on religious precepts and dogma.

Alterations in the functional neural circuitry supporting flexible choice behavior in autism spectrum disorders.

Restricted and repetitive behaviors, and a pronounced preference for behavioral and environmental consistency, are distinctive characteristics of autism spectrum disorder (ASD). Alterations in frontostriatal circuitry that supports flexible behavior might underlie this behavioral impairment. In an functional magnetic resonance imaging study of 17 individuals with ASD, and 23 age-, gender- and IQ-matched typically developing control participants, reversal learning tasks were used to assess behavioral flexibility as participants switched from one learned response choice to a different response choice when task contingencies changed. When choice outcome after reversal was uncertain, the ASD group demonstrated reduced activation in both frontal cortex and ventral striatum, in the absence of task performance differences. When the outcomes of novel responses were certain, there was no difference in brain activation between groups. Reduced activation in frontal cortex and ventral striatum suggest problems in decision-making and response planning, and in processing reinforcement cues, respectively. These processes, and their integration, are essential for flexible behavior. Alterations in these systems may therefore contribute to a rigid adherence to preferred behavioral patterns in individuals with an ASD. These findings provide an additional impetus for the use of reversal learning paradigms as a translational model for treatment development targeting the domain of restricted and repetitive behaviors in ASD.

Reduced habituation of auditory evoked potentials indicate cortical hyper-excitability in Fragile X Syndrome.

Sensory hypersensitivities are common, clinically distressing features of Fragile X Syndrome (FXS). Preclinical evidence suggests this abnormality may result from synaptic hyper-excitability in sensory systems. This model predicts reduced sensory habituation to repeated stimulus presentation. Fourteen adolescents and adults with FXS and 15 age-matched controls participated in a modified auditory gating task using trains of 4 identical tones during dense array electroencephalography (EEG). Event-related potential and single trial time-frequency analyses revealed decreased habituation of the N1 event-related potential response in FXS, and increased gamma power coupled with decreases in gamma phase-locking during the early-stimulus registration period. EEG abnormalities in FXS were associated with parent reports of heightened sensory sensitivities and social communication deficits. Reduced habituation and altered gamma power and phase-locking to auditory cues demonstrated here in FXS patients parallels preclinical findings with Fmr1 KO mice. Thus, the EEG abnormalities seen in FXS patients support the model of neocortical hyper-excitability in FXS, and may provide useful translational biomarkers for evaluating novel treatment strategies targeting its neural substrate.

Preliminary results of video-assisted anal fistula treatment (VAAFT) in children.

BACKGROUND: Anal fistula is a common acquired anorectal disorder in children. Treatment methods that have been used are associated with inconsistent results and possible serious complications. In 2011 a minimally invasive approach, video-assisted anal fistula treatment (VAAFT) was described for adult patients. The aim of the present study was to assess the first series of pediatric patients treated with VAAFT. METHODS: All patients who underwent VAAFT between August 2013 and May 2015 were included. Demographics, clinical features, preoperative imaging, surgical details, outcome, and medium-term data were prospectively collected for each patient. RESULTS: Thirteen procedures were performed in nine patients. The male to female ratio was 8:1, and the median age was 9.6 years. Five fistulas were idiopathic, three iatrogenic, and one associated with Crohn's disease. Eight complete VAAFT procedures were performed. The remaining five procedures were either fistuloscopy and cutting seton placement or fistuloscopy and electrocoagulation, both without mucosal sleeve. The median length of surgery was 41 min. The median hospital stay was 24 h, and the median length of follow-up was 10 months. Resolution of the fistula was observed in all patients who underwent a complete VAAFT. In four out of five patients who underwent an incomplete procedure (without mucosal sleeve), the fistula recurred. No incontinence or soiling was reported in the medium term. CONCLUSIONS: VAAFT proved to be feasible and safe in children. It also proved to be versatile as it could be applied to fistulas of different etiologies. The key to success seems to be an adequate mucosal sleeve. Older children and adolescents benefit most from VAAFT which is a valid alternative to available surgical procedures.

Inguinal hernia in neonates and ex-preterm: complications, timing and need for routine contralateral exploration.

BACKGROUND/PURPOSE: Aim of this study was to present a series of neonates and ex-preterm babies who underwent inguinal hernia repair focusing on complications and possible indication to perform routine contralateral groin exploration. METHODS: This is a retrospective study of a series of consecutive patients weighing less than 5 kg who underwent inguinal hernia repair between January 2007 and December 2012. Only the affected side was treated. Patients have been routinely followed up postoperatively. We resorted to available outpatients' charts and admission notes to record demographic data, surgical details, complications and the occurrence of metachronous hernias. A questionnaire was administered to all patients' relatives to confirm the long-term outcome. RESULTS: One hundred fifty-four patients were operated for a total of 184 herniotomies (88 right sided, 36 left sided and 30 bilateral). Median length of follow-up was 42 months (range 6 months-7.5 years). Thirteen patients (13/124 = 10.5 %) developed metachronous hernia that proved to be significantly more frequent in patients weighing less than 1,500 g at birth (p < 0.05). We observed 10 % of complications, including 2.7 % testicular atrophy and 4.5 % recurrence. Atrophy proved to occur more frequently in patients who experienced preoperative incarceration (p < 0.05). No other risk factors were identified. CONCLUSIONS: The results of our series demonstrated that, though technically demanding, herniotomy in the neonate and ex-preterm is associated with a relatively low incidence of complications. Based on our results and in accordance with literature data, we do not advocate routine contralateral exploration in case of unilateral hernia but surgery to be performed only on the symptomatic side, as soon as possible after initial diagnosis. Very low birth weight patients should be followed with care in the early postoperative period due to the higher likelihood of developing a metachronous hernia.

Medical treatment in gender dysphoric adolescents endorsed by SIAMS-SIE-SIEDP-ONIG.

PURPOSE: Despite international guidelines being available, not all gender clinics are able to face gender dysphoric (GD) youth population needs specifically. This is particularly true in Italy. Centers offering specialized support are relatively few and a commonly accepted Italian approach to GD youth has still not been defined. The aim of the present Position Statement is to develop and adhere to Italian guidelines for treatment of GD adolescents, in line with the "Dutch Approach", the Endocrine Society (ES), and the World Professional Association for Transgender Health (WPATH) guidelines. METHODS: An in-depth brainstorming on the application of International guidelines in the Italian context was performed by several dedicated professionals. RESULTS: A staged approach, combining psychological support as well as medical intervention is suggested. In the first phase, individuals requesting medical help will undergo a psycho-diagnostic procedure to assess GD; for eligible adolescents, pubertal suppression should be made available (extended diagnostic phase). Finally, from the age of 16 years, cross-sex hormonal therapy can be added, and from the age of 18 years, surgical sex reassignment can eventually be performed. CONCLUSIONS: The current inadequacy of Italian services offering specialized support for GD youth may lead to negative consequences. Omitting or delaying treatment is not a neutral option. In fact, some GD adolescents may develop psychiatric problems, suicidality, and social marginalization. With access to specialized GD services, emotional problems, as well as self-harming behavior, may decrease and general functioning may significantly improve. In particular, puberty suppression seems to be beneficial for GD adolescents by relieving their acute suffering and distress and thus improving their quality of life.

Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.

Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J 22:905-912; Underwood et al. (2005); Mol Cell Biol 25:10005-10016]. Rare copy number abnormalities of A2BP1 have been previously associated with cognitive impairment, attention deficit disorder and autism [Martin et al. (2007); Am J Med Gen Part B 144B:869-876; Elia et al. (2010); Mol Psychiatry 15:637-646.]. Using a 1M Illumina SNP microarray, we identified a 1.3 kb deletion in A2BP1, which was subsequently validated by quantitative PCR. Here we present an in depth case study of an individual with autism and mild developmental hemiparesis in whom the deletion was detected. This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries.

Online imaging of initial DNA damages at the PTB microbeam.

In an inter-disciplinary collaboration of Physikalisch-Technische Bundesanstalt (PTB), German Collection of Microorganisms and Cell Cultures (DSMZ) and Heinrich-Heine University, live-cell imaging has been established at the charged-particle microbeam facility of PTB. Candidate genes participating in DNA strand-break repair pathways such as PARP-1, MRE11, MSH2, MDC1 and p53BP1 have been modified to generate fluorescent fusion proteins. Using multi-cistronic expression vectors, stable genomic integration was achieved in HT-1080 fibroblasts. The aim of this study is to characterise and use these highly reliable cell lines for studying initial steps of DNA damage responses and kinetics of repair after microbeam irradiation with high- and low-linear energy transfer (LET) particles in living cells at physiological conditions.

Sentinel node biopsy for high-risk cutaneous nonanogenital squamous cell carcinoma: a preliminary result.

BACKGROUND: Certain patients with squamous cell carcinoma (SCC) have much higher rates of regional nodal metastases than is often reported. This study aims to further validate sentinel lymph node biopsy (SNB) for SCC and the outcome of these patients following SNB. METHODS: 20 patients with high-risk nonanogenital SCC who underwent SNB between 1998 and 2007 were retrospectively reviewed. SNB was performed under local or general anesthesia following lymphoscintigraphy and blue dye injection. RESULTS: The median follow-up from SNB was 24 months. Tumor location included the head and neck (n = 11), extremities (n = 9) and trunk (n = 1). One patient had a positive sentinel node. This patient developed parotid metastases 13 months after refusing a complete neck dissection and is alive with progressive disease after 31 months. Two patients developed regional recurrence after negative SNB (1 is alive and disease free, the other died of progressive disease). Of the remaining patients, 15 are alive and disease free, 1 died of another malignancy and 1 was lost to follow-up. CONCLUSION: SNB for high-risk SCC is feasible and allows early detection and treatment of nodal metastases. Currently, SNB for SCC is not a standard treatment and requires further investigation to determine which patients would benefit best from this procedure.