Effectiveness of social management training on executive functions in males with Klinefelter syndrome (47, XXY)

Education and Child Studie

Anatomic Predictors for Late Mortality after Standard Endovascular Aneurysm Repair

Objective: Abdominal aortic aneurysm (AAA) management involves a decision process that takes into account anatomic characteristics, surgical risks, patients' preferences, and expected survival. Whereas larger AAA diameter has been associated with increased mortality after both standard endovascular aneurysm repair (EVAR) and open repair, it is unclear whether survival after EVAR is influenced by other anatomic characteristics. The purpose of this study was to determine the importance of baseline anatomic features on survival after EVAR. Methods: All patients treated at a tertiary teaching center with EVAR for intact standard infrarenal AAA from 2000 to 2014 were included. The civil data registry was queried to determine survival status; causes of death were obtained from death certificates. The primary study end point was to determine the impact of baseline morphologic features on all-cause and cardiovascular mortality after EVAR. Results: This study included 404 EVAR patients (12.1% women; mean age, 73 years) with a median follow-up of 5.8 years (interquartile range, 3.1-7.4 years). The 5- and 10-year overall survival rates for the entire population after EVAR were 70% (95% confidence interval [CI], 66%-75%) and 43% (95% CI, 37%-50%), respectively. Only AAA diameter >70 mm (hazard ratio [HR], 1.75; 95% CI, 1.20-3.56) was identified as an independent anatomic predictor of all-cause mortality. Death due to cardiovascular causes occurred in 60 (38.5%) patients. Aneurysm-related mortality was responsible for six of the cardiovascular-related deaths. In multivariable analysis, both neck diameter ≥30 mm (HR, 2.16; 95% CI, 1.05-4.43) and AAA diameter >70 mm (HR, 2.45; 95% CI, 1.34-4.46) were identified as independent morphologic risk factors for cardiovascular mortality, whereas >25% circumferential neck thrombus (HR, 0.32; 95% CI, 0.13-0.77) was protective. Conclusions: This study suggests that patients with AAA diameters >70 mm are at increased risk of all-cause and cardiovascular mortality. In addition, patients with infrarenal neck diameters ≥30 mm have a greater risk of cardiovascular mortality, although AAA-related deaths were not more frequent in this group of patients. Consequently, a more aggressive management of cardiovascular medical comorbidities may be warranted to improve survival after standard EVAR in these patients.info:eu-repo/semantics/publishedVersio

Long-Term Outcomes of Standard Endovascular Aneurysm Repair in Patients With Severe Neck Angulation

Objective: Severe neck angulation is associated with complications after endovascular aneurysm repair (EVAR). Newer endografts may overcome this limitation, but the literature lacks long-term results. We studied the long-term outcomes of EVAR in patients with severe neck angulation. Methods: A retrospective case-control study of a prospective multicenter database was performed. All measurements were made with dedicated software with center lumen line reconstruction. A study group including patients with neck length >15 mm, infrarenal angle (β) >75 degrees or suprarenal angle (α) >60 degrees, and neck length 10 to 15 mm with β >60 degrees or α >45 degrees was compared with a control group matched for demographics and other morphologic neck features. The primary end point was type IA endoleak (EL1A). Secondary end points were freedom from neck-related secondary interventions, primary clinical success, and overall survival. Results: Forty-five patients were included in the angulated neck group and compared with 65 matched patients. Median follow-up was 7.4 years (interquartile range, 4.8-8.5 years). In the angulated neck group, mean α was 51.4 degrees (±21.1 degrees) and the mean β was 80.8 degrees (±15.6 degrees); in the nonangulated group, these were 17.9 degrees (±17.0 degrees) and 35.4 degrees (±20.0 degrees), respectively. At 7 years, five patients in the angulated neck group and two nonangulated patients developed EL1A, yielding a freedom from EL1A of 86.1% (n = 14; standard error [SE], 0.069) and 96.6% (n = 34; SE, 0.023), respectively (P = .056). After exclusion of a patient who developed an EL1A secondary to an endograft infection, this difference was significant: 86.1% (n = 14; SE, 0.069) in the angulated neck group and 98.2% (n = 34; SE, 0.018) in the nonangulated group (P = .016). At 7 years, freedom from neck-related secondary interventions was 91.7% (n = 14; SE, 0.059) and 91.6% (n = 29; SE, 0.029), respectively. The 7-year primary clinical success estimates were 41.2% (n = 11; SE, 0.085) and 56.6% (n = 20; SE, 0.072) for the angulated neck and nonangulated groups, respectively (P = .12). The 7-year survival rates were 44.3% (n = 18; SE, 0.076) vs 66.7% (n = 42; SE, 0.059) for the angulated neck and nonangulated groups, respectively (P = .25). Device integrity failure was not observed. Conclusions: Despite satisfactory results early and in the midterm, a higher rate of EL1A was identified among patients with severely angulated necks in the long term. However, mortality was not affected by this difference. These findings suggest that EVAR should be used judiciously in patients with extreme angulation of the proximal neck and highlight the need for close follow-up of EVAR, especially in the long term and in patients treated outside instructions for use.info:eu-repo/semantics/publishedVersio

Prediction of fetal and neonatal outcomes after preterm manifestations of placental insufficiency:systematic review of prediction models

Objectives: To identify all prediction models for fetal and neonatal outcomes in pregnancies with preterm manifestations of placental insufficiency (gestational hypertension, pre-eclampsia, HELLP syndrome or fetal growth restriction with its onset before 37 weeks' gestation) and to assess the quality of the models and their performance on external validation. Methods: A systematic literature search was performed in PubMed, Web of Science and EMBASE. Studies describing prediction models for fetal/neonatal mortality or significant neonatal morbidity in patients with preterm placental insufficiency disorders were included. Data extraction was performed using the CHARMS checklist. Risk of bias was assessed using PROBAST. Literature selection and data extraction were performed by two researchers independently. Results: Our literature search yielded 22 491 unique publications. Fourteen were included after full-text screening of 218 articles that remained after initial exclusions. The studies derived a total of 41 prediction models, including four models in the setting of pre-eclampsia or HELLP, two models in the setting of fetal growth restriction and/or pre-eclampsia and 35 models in the setting of fetal growth restriction. None of the models was validated externally, and internal validation was performed in only two studies. The final models contained mainly ultrasound (Doppler) markers as predictors of fetal/neonatal mortality and neonatal morbidity. Discriminative properties were reported for 27/41 models (c-statistic between 0.6 and 0.9). Only two studies presented a calibration plot. The risk of bias was assessed as unclear in one model and high for all other models, mainly owing to the use of inappropriate statistical methods. Conclusions: We identified 41 prediction models for fetal and neonatal outcomes in pregnancies with preterm manifestations of placental insufficiency. All models were considered to be of low methodological quality, apart from one that had unclear methodological quality. Higher-quality models and external validation studies are needed to inform clinical decision-making based on prediction models.</p

Total Luminal Volume Predicts Risk after Endovascular Aneurysm Repair

Objective: Large aneurysm diameter represents a well known predictor of late complications after endovascular aneurysm repair (EVAR). However, the role of the thrombus free lumen inside the abdominal aortic aneurysm (AAA) sac is not clear. It was hypothesised that greater luminal volume represents a relevant risk factor for late complications after EVAR. Methods: A retrospective cohort analysis was performed including all patients undergoing EVAR from 2005 to 2016 at a tertiary referral institution. Pre-operative AAA lumen volume was measured in centre lumen line reconstructions and patients were stratified into quartiles according to luminal volume. The primary endpoint was freedom from AAA related complications. Secondary endpoints were freedom from neck events (type 1A endoleak, migration >5 mm or any pre-emptive neck related intervention), iliac related events (type 1B endoleak or pre-emptive iliac related intervention), and overall survival. Results: Four hundred and four patients were included: 101 in the first quartile (Q1; <61 cm3). Patients with higher luminal volumes had wider, shorter, and more angulated proximal necks. There were more ruptured AAAs, more aorto-uni-iliac implanted devices and patients outside neck instructions for use in the 4th quartile. Five year freedom from AAA related complications was 79%, 66%, 58% and 56%, respectively (p = .007). At five years, freedom from neck related events was 86%, 84%, 73%, and 71%, respectively, for the four groups (p = .009), and freedom from iliac related events was 96%, 91%, 88%, and 88%, respectively (p = .335). On multivariable analysis, luminal volume was an independent predictor of late complications (Q4 vs. Q1 - hazard ratio: 1.91, 95% confidence interval 1.01-3.6, p = .046). Overall survival at five years was not affected by lumen volume (p = .75). Conclusion: AAA luminal volume represents an important risk factor for AAA related complications. This information may be considered when deciding tailoring surveillance protocols after EVAR. However, larger studies are needed to validate this hypothesis.info:eu-repo/semantics/publishedVersio

Deficits in Implicit Attention to Social Signals in Schizophrenia and High Risk Groups: Behavioural Evidence from a New Illusion

Background An increasing body of evidence suggests that the apparent social impairments observed in schizophrenia may arise from deficits in social cognitive processing capacities. The ability to process basic social cues, such as gaze direction and biological motion, effortlessly and implicitly is thought to be a prerequisite for establishing successful social interactions and for construing a sense of "social intuition." However, studies that address the ability to effortlessly process basic social cues in schizophrenia are lacking. Because social cognitive processing deficits may be part of the genetic vulnerability for schizophrenia, we also investigated two groups that have been shown to be at increased risk of developing schizophrenia-spectrum pathology: first-degree relatives of schizophrenia patients and men with Klinefelter syndrome (47,XXY). Results We compared 28 patients with schizophrenia, 29 siblings of patients with schizophrenia, and 29 individuals with Klinefelter syndrome with 46 matched healthy control subjects on a new paradigm. This paradigm measures one's susceptibility for a bias in distance estimation between two agents that is induced by the implicit processing of gaze direction and biological motion conveyed by these agents. Compared to control subjects, patients with schizophrenia, as well as siblings of patients and Klinefelter men, showed a lack of influence of social cues on their distance judgments. Conclusions We suggest that the insensitivity for social cues is a cognitive aspect of schizophrenia that may be seen as an endophenotype as it appears to be present both in relatives who are at increased genetic risk and in a genetic disorder at risk for schizophrenia-spectrum psychopathology. These social cue-processing deficits could contribute, in part, to the difficulties in higher order social cognitive tasks and, hence, to decreased social competence that has been observed in these groups

Impact of sarcopenia on acute radiation-induced toxicity in head and neck cancer patients

Background and purpose: Sarcopenia is related to late radiation-induced toxicities and worse survival in head and neck cancer (HNC) patients. This study tested the hypothesis that sarcopenia improves the performance of current normal tissue complication probability (NTCP) models of radiation-induced acute toxicity in HNC patients. Material/methods: This was a retrospective analysis in a prospective cohort of HNC patients treated from January 2007 to December 2018 with (chemo)radiotherapy. Planning CT scans were used for evaluating skeletal muscle mass. Characteristics of sarcopenic and non-sarcopenic patients were compared. The impact of sarcopenia was analysed by adding sarcopenia to the linear predictors of current NTCP models predicting physician- and patient-rated acute toxicities. Results: The cut-off values of sarcopenia in the study population (n = 977) were established at skeletal muscle index = 2, p = 3 dysphagia (week 3-6 during RT, p 0.99). Conclusion: Sarcopenia in HNC patients was an independent prognostic factor for radiation-induced physician-rated acute grade >= 3 dysphagia, which might be explained by its impact on swallowing muscles. However, addition of sarcopenia did not improve the NTCP model performance. (c) 2022 The Author(s). Published by Elsevier B.V. Radiotherapy and Oncology 170 (2022) 122-128 This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)

Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication:A case report

Parathyroid hormone-like hormone (PTHLH) plays an important role in bone formation. Several skeletal dysplasias have been described that are associated with disruption of PTHLH functioning. Here we report on a new patient with a 898 Kb duplication on chromosome 12p11.22 including the PTHLH gene. The boy has multiple skeletal abnormalities including chondrodysplasia, lesions radiographically resembling enchondromas and posterior rib deformities leading to a severe chest deformity. Severe pulmonary symptoms were thought to be caused by limited mobility and secondary sputum evacuation problems due to the chest deformity. Imaging studies during follow-up revealed progression of the number of skeletal lesions over time. This case extends the phenotypic spectrum associated with copy number variation of PTHLH