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Patients with substance use disorders (SUD) have higher alexithymia levels and present frequently suicidal ideation (SI) and suicide (SA) [1,2]. Beside, alexithymia has been related to suicidal behaviors in several psychiatric disorders. Although, there are some studies on alexithymia and suicidality in SUD patients, to our knowledge there are no studies on this issue in Spanish population.
To compare the alexithymia levels in SUD patients with and without SI and SA in an outpatient addiction treatment center in Spain.
This is a cross-sectional study performed on 110 patients (74.3%males; mean age 43.6±14.5years old) for whom we had information from the Toronto Alexithymia Scale(TAS-20) and the presence or not of lifetime SI and SA.
Lifetime SI and SA were present in 55.5% and 35.5% of the sample respectively. The mean score of TAS-20, difficulties identifying feelings (DIF), difficulties describing feelings (DDT), and externally-oriented thinking(EOT) were 57.2±13.3, 20.0±7.0, 14.7±4.5, and 22.5±4.5 respectively.
SI and SA may be related to alexithymia levels. Hence, alexithymia should be further analyzed in SUD patients in longitudinal studies in order to analyze the bilateral association with suicidal spectrum behaviors. REFERENCES Rodríguez-Cintas L, et al. Factors associated with lifetime suicidal ideation and suicide attempts in outpatients with substance use disorders. Psychiatry Res. 2018;262:440-5. Morie KP, et al. Alexithymia and Addiction: A Review and Preliminary Data Suggesting Neurobiological Links to Reward/Loss Processing. Curr Addict Rep. 2016;3(2):239-48. Hemming L, et al. A systematic review and meta-analysis of the association between alexithymia and suicide ideation and behaviour. J Affect Disord. 2019;254:34-48.
Insomnia has been related to a more severe substance use disorder presentation (1). There are few longitudinal studies in outpatients center for SUD treatment that evaluate how insomnia impacts on relapses.
To analyze how insomnia impacts on the time of the first substance relapse in SUD outpatients after the onset of addiction treatment.
This is a one-year follow-up study performed on 116 patients (73.3% males; mean age 43.4±14.3) for whom we had information from baseline insomnia and the time for the first relapse. A Kaplan-Meier survival analysis was performed. This is part of a greater research on Alexithymia in SUD in a longitudinal study.
The initial sample consisted of 116 patients, information on relapses was available for 113 patients. The main substances used at baseline were alcohol (62.1%), cocaine (56.0%), cannabis (42.2%), and opiates (30.2%).
It is important to evaluate insomnia at the onset of addiction treatment because insomnia may be related to earlier relapses. Furthermore, it should be analyzed further on how insomnia treatment impact on substance relapses. REFERENCES 1. Miller MB, Donahue ML, Carey KB, Scott-Sheldon LAJ. Insomnia treatment in the context of alcohol use disorder: A systematic review and meta-analysis. Drug Alcohol Depend. 2017;181:200-207. doi:10.1016/j.drugalcdep.2017.09.029
Darwin's frogs Rhinoderma darwinii and Rhinoderma rufum are the only known species of amphibians in which males brood their offspring in their vocal sacs. We propose these frogs as flagship species for the conservation of the Austral temperate forests of Chile and Argentina. This recommendation forms part of the vision of the Binational Conservation Strategy for Darwin's Frogs, which was launched in 2018. The strategy is a conservation initiative led by the IUCN SSC Amphibian Specialist Group, which in 2017 convened 30 governmental, non-profit and private organizations from Chile, Argentina and elsewhere. Darwin's frogs are iconic examples of the global amphibian conservation crisis: R. rufum is categorized as Critically Endangered (Possibly Extinct) on the IUCN Red List, and R. darwinii as Endangered. Here we articulate the conservation planning process that led to the development of the conservation strategy for these species and present its main findings and recommendations. Using an evidence-based approach, the Binational Conservation Strategy for Darwin's Frogs contains a comprehensive status review of Rhinoderma spp., including critical threat analyses, and proposes 39 prioritized conservation actions. Its goal is that by 2028, key information gaps on Rhinoderma spp. will be filled, the main threats to these species will be reduced, and financial, legal and societal support will have been achieved. The strategy is a multi-disciplinary, transnational endeavour aimed at ensuring the long-term viability of these unique frogs and their particular habitat.
“Rite of passage” is an etnographic concept developed by VanGennep that defines the vital transition of an individual between two different status. It is divided in three stages: separation, liminal/threshold and aggregation. Turner described the liminal phase, and the terms of “communitas” and “liminoid” (structure of a rite without religious/spiritual elements). One widely-known Rite of Passage is the initiation of the shamans.
Study the elements of a rite of passage present in Psychiatric Trainning.
• Field study (observational, descriptive, non-experimental).
• Preliminary Sample=10trainees (5man+5women); last year of Psychiatric Trainning.
• “ad hoc” semi-structured interview (21items subdivided in open questions). 10interviews (average duration=75mins). Permanent register:digital recorder.
• Summary and analysis of the answers. Review of the literature.
- Psychiatric Trainning shared the elements and tri-phasic structure of VanGennep's “rite of passage” concept
- Trainees saw themselves as more empathic(7/10) and humanistic(8/10) than other specialties colleagues. Stigma towards mental illness(8/10) and fear of suicide(9/10) were also considered as their distinctives.
- The collective behaved as a communitas(10/10)
- No spiritual elements(0/10): liminoid process
- Resemblances of the ancestral shamans' Initiation: Despite bloody practices were over, suffering was also present(7/10), but was seen as necessary(6/10) and well tolerated(7/10).
- Trainees felt that they grew spiritual and mentally(7/10) during the trainning years
Results suggest that Psychiatric Trainning has stable phenomena that:
• are compatible with the Rite of Passage schema
• Are considered exclusive of Psychiatry by trainees
• Have not been systematically studied as a whole, which could help to improve the training.
Generalized anxiety disorder (GAD) is the second more frequent disorder after mayor depression in primary care. It has great impact in patients functioning and consumption of health services. The clinical presentation in this setting, predominantly somatic, and its frequent comorbidity may lead to underdiagnosed and mistreatment. Features of GAD in this setting are evaluated.
An epidemiological and multicenter study was carried out, collecting demographic data and clinical history, on a randomly selected representative sample of 225 patients from three primary care centers of the area of Madrid (Spain). Also Patient Health Questionnaire (PHQ) and Dream Questionnaire of Oviedo were reported.
Chi-square test were used to compare in patients diagnosed of GAD versus other psychiatric patients and non-psychiatric diagnosed.
Results and conclusions
Clinic prevalence of GAD was 11,1% in the sample. In GAD cases, mayor depression was found in 68,0% (Chi2, p< 0,001). So, it shows the comorbidity of GAD with mayor depression has a relevant presence in primary care. This suggest a possible relation between both disorders.
On the other hand, the presence of depressive symptoms were significantly higher in GAD patients (U test, p< 0,001). Unexpected non statistical significant differences were found in the number of somatic symptoms, sick leave days and utilization of medical services. Comorbidity with mayor depression disorder may work as a confounding factor masking the differences found in other epidemiological studies.
Better clinical diagnosis tools and longitudinal studies might be proceed to clear this relation and improve its treatment.
Serotonin Syndrome (SS) is an adverse drug reaction that drives mental-status changes, autonomic hyperactivity and neuromuscular abnormalities.
Neuroleptic Malignant Syndrome (NMS) is an idiopathic reaction to dopamine-antagonist that consists of extra-pyramidal symptoms, autonomic dysfunction, hyperthermia, diaphoresis and fluctuating consciousness.
Differential diagnosis is sometimes difficult for their overlapping clinical features. Potentially lethal, both require heightened clinical awareness for prevention, recognition and prompt treatment.
Caucasian 59 years-old woman with Catatonic profile (Scored: severity-17points/ 5 screening in Bush-Francis Catatonia-Rating-Scale).
Past Medical History
- Bipolar Disorder type-2 (25 years of evolution)
15 days before hospitalization, anafranil and fluoxetine treatment was replaced by Trazodone 200 mg/day and venlafaxine 150mg/day. She was also on valpromida and lorazepam 15 mg/day.
Mutism, negativism. No reaction to painful stimuli, stuporous. Diaphoresis, pallor, tremor, axial rigidity without pyramidalism (>lower limbs), high fever (40°C), tachycardia (>100lpm), rhabdomyolysis (CPK reached 17.000, 48 hours after the admission), leukocytosis, upper transaminasas, hiponatremia with hiperpotasemia.
-NMS: Intensity, duration and high CPK are suggestive (Sternbach). This syndrome has been described due to Venlafaxine.
-SS: Combination of Venlafaxine and Trazodone favors but she doesn't have acatisia, hiperreflexia, diarrhea and it wasn't resolved after 96 hours.
Drugs were removed and Lorazepam on high doses (5mg/day) was prescribed. One month later the patient was totally recovered of the episode.
If unsure diagnoses it's priority to remove the causing drugs and supportive care. Afterwards, it can be used benzodiacepines, also dantroleno in SNM.
The studies about the comorbidity of major depressive disorder (MDD) and bipolar disorder (BD) have increased in the last years. The comorbidity with Axis I psychiatric disorders complicates the diagnosis, prognosis and treatment.
To analyze the prevalence of affective disorders associated with another Axis I psychiatric disorders to treat correctly from the beginning of the diagnosis and to improve the course of the disorder and the quality of life of these patients
The subjects who participated in the study were diagnosed of bipolar I disorder, bipolar II disorder and MDD, according to DSM-IV-TR criteria. The sample (n = 114) was divided into three groups: MDD (n = 58), BD (n = 31) and a control group of healthy subjects (n = 25). The diagnosis and stability were assessed using the MINI International Neuropsyquiatric Interview and the Hamilton Depression Rating Scale (HDRS).
BD had a significantly association with risk of suicide (38%), anxiety disorder (3.3%) and social phobia (12.9%). It was also reported a significant association between MDD and risk of suicide (71%), manic/hypomanic episodes (25.9%), anxiety disorder (37.9%), social phobia (25.9%) and generalized anxiety disorder (37.9%).
It is necessary for clinical practice an integrative model which takes into account the comorbidity of affective disorders to improve the response to treatment and the prognosis of these mental disorders
Recent epidemiological studies suggest that the prevalence of bipolar disorder might be misdiagnosed initially as unipolar depression due to the difficulty to detect episodes of hypomania. The Hypomania Checklist (HCL-32), validated in Spanish, is a self-report questionnaire with 32 hypomania items designed to screen for hypomanic episodes.
To examine the prevalence of hypomania in patients with unipolar depression. Corroborate the efficacy of the HCL-32 to detect symptoms of hypomania.
The presence of hypomanic symptoms was assessed by the HCL-32 in a sample of 128 subjects diagnosed with bipolar I disorder (n = 30), bipolar II disorder (n = 1), unipolar depression (n = 57), and anxiety disorder (n = 15) according to DSM-IV-TR criteria. A control group of healthy subjects was selected (n = 25).
The discriminative capacity was analyzed by the ROC curve. The AUC was 0.65 which did not indicate a good capacity. The sensitivity (S), specificity (E) and prevalence (P) of hypomania in unipolar patients for the following cut-off points were :14: S = 81.6%,95%CI(69.8, 93.5); E = 30.1%,95%CI(19.7,40.6); P = 74.1%; 15: S = 77.6%,95%CI(64.9,90.3); E = 37.4%,95%CI(26.3,48.4); P = 67.2%; 16: S = 59.2%,95%CI(44.4,73.9); E = 55.4%,95%CI(44.1,74.0); P = 51.7%; 17: S = 55.1%,95%CI(40.2,70.1); E = 57.8%,95%CI(46.6,69.1); P = 48.3%.
The HCL-32 has a high sensitivity but a low specificity as screening instrument. This might explain the high proportion of hypomania found in this study. The difference with previous studies is that our sample was heterogeneous, unstable and serious. This suggests that the HCL-32 is not valid for any psychiatric sample. Future research should develop more specific instruments with better external validity.
It is established the presence of seasonal variations in decompensation of patients with bipolar disorder. The purpose of this study is to assess whether other environmental factors such as Moon lighting or the distance between the Moon and Earth are associated with decompensation of this group of disorders.
Material and Methods:
We collected all the attention made ??to the Emergency Department of the Hospital de León for one year (July 2012 to June 2013). We identified patients diagnosed with Bipolar Disorder (F31.x). Consultations were correlated with the following astronomical data: Moon lighting, Moon Phase, Earth-Moon distance and growing or waning moon. Main variables to study were number of emergency consultations and income in hospitalization. It was used for analysis SPSS v20.
From a total of 1405 emergency consultations 96 patients were diagnosed with Bipolar Disorder, of whom 60 required hospitalization. The mean ratio of total number of consultations / total days in a particular moon phase was 0.2858 (95% CI: 0.2313 to 0.3403) with significant variations in the different phases. The mean ratio of total hospitalizations / total days in a particular moon phase was 0.1728 (95% CI: 0.1095 to 0.2361). The comparison of the mean lunar illumination between patients who required admission (mean = 56.7 + / -32.08) and those who were discharged (mean = 43.69 + / -32.39) was found near statistical significance (p = 0.058). There were no significant differences in the Earth-Moon distance or the waxing or waning state of the Moon.
No association was found between the Earth-Moon distance and the number of visits or hospitalizations in bipolar patients. The lunar illumination is higher in cases that required hospitalization and it is necessary conduct a study with a greater potency to establish or definitely reject this finding.
The HDP care structures are intermediate in nature providing an active heatlth care, multidimensional, structured and intensive medical care, aimed at patients with severe and complex system of partial hospitalization in pathology, as well as those patients who do not require, at a given time, income to total time, but are not subject to appropriate outpatient therapeutic gains.
- To analyze the profile of psychotic patients admitted to HDP.
- To know the effectiveness of the intervention in HDP on psychotic patients.
Material and Methods
Prospective naturalistic study of psychotic patients (F2X.XX) entering HDP for 24 months. As main outcome variables use: PANSS score, GAF score and CASH for insight. These scales are passed on valuation and the day of discharge device.
We identified 81 patients that have been hospitalized after an acute event (67, 82.7%). From the initial sample, 22 cases were first psychotic episodes (27.2%), 46 males (56.8%) and 35 women (43.2%), Discharge statistically significant improvement in PANSS score (p objective <0.001) in the GAF score (p> o, o, o, 1) and in CASH to awareness of illness score (p <0,0,0,1).
Intervention in day Hospital on psychotic patients improves psychotic symptoms, functionality and insight.
In the absence of biological measures, diagnostic long-term stability provides the best evidence of diagnostic validity.Therefore,the study of diagnostic stability in naturalistic conditions may reflect clinical validity and utility of current schizophrenia diagnostic criteria.
Describe the diagnostic evolution of schizophrenia in clinical settings.
We examined the stability of schizophrenia first diagnoses (n=26,163) in public mental health centers of Madrid (Spain).Probability of maintaining the diagnosis of schizophrenia was calculated considering the cumulative percentage of each diagnosis per month during 48 months after the initial diagnosis of schizophrenia.
65% of the subjects kept the diagnosis of schizophrenia in subsequent assessments (Figure 1). Patients who changed (35%) did so in the first 4-8 months. After that time gap the rates of each diagnostic category remained stable. Diagnostic shift from schizophrenia was more commonly toward the following diagnoses: personality disorders (F60), delusional disorders (F22), bipolar disorder (F31), persistent mood disorders (F34), acute and transient psychotic disorders (F23) or schizoaffective disorder (F25).
Once it is confirmed, clinical assessment repeatedly maintains the diagnosis of schizophrenia.The time lapse for its confirmation agrees with the current diagnostic criteria in DSM-IV. We will discuss the implications of these findings for the categorical versus dimensional debate in the diagnosis of schizophrenia.
Because of the interest about the physical health in psychiatric patients was made this study, to analyze, in a sample of patients with schizophrenia, the possible occurrence of metabolic disorders, their relationship with treatment, and the interventions need in this regard.
Check if patients with schizophrenia treated with antipsychotics have metabolic disorders
Check if the introduction of information about metabolic disorders influences the habits of life.
A 6 months prospective study with patients followed up in the Day Hospital with an atypical antipsychotic.
The results describe a young population with 59% of males, without adequate dietary habits and with a low activity level. Most patients showed overweight or obesity.
On the other hand the presence of metabolic syndrome was higher in patients with olanzapine and risperidone long-acting injectable, although it was not statistically significant.
In the sample has been found the influence of certain doses of these antipsychotics and their influence on weight. Of note is the decrease in weight with olanzapine, usually associated with antipsychotic drug weight gain and that this study gives an opposite result that may be related to psycho-educational interventions on healthy lifestyles and the consequent change in the behavior in this regard and that received the most study patients.
There are metabolic disorders and overweight problems that are need to investigate into the possible mechanisms of control and early detection. This problems also be likely to be influenced of a healthy lifestyle, which could be the subject of a psycho-educational treatment.
Schizophrenia is a developmental disorder that includes non-psychiatric abnormalities . Metabolic abnormalities prior to antipsychotic treatment exist. The clozapine metabolic profile causes clozapine underuse in resistant schizophrenia .
To correlate metabolic profile with psychiatric severity and compare the correlations between clozapine/non-clozapine patients.
To determine possible contributory factors to metabolic abnormalities in schizophrenia.
We cross-sectionally analyzed all patients from a Spanish long-term mental care facility (n = 139). Schizophrenic/schizoaffective patients were selected (n = 118). N = 31 used clozapine. We paired clozapine and non-clozapine patients by sex and age and assessed metabolic and psychopathologic variables.
We compared psychopathologic variables between patients with/without cardiometabolic treatment and the differences between clozapine/non-clozapine groups.
We analyzed: 27 clozapine/29 non-clozapine patients. A total of 67,9% males with a mean age of 51.3 (SD 9.6) years. In the whole sample TG negatively correlated with Negative-CGI (r: −0,470, P: 0.049) and HDL-cholesterol correlates with Global-CGI(r: 0,505, P: 0.046). Prolactin correlated with the number of antipsychotics (r: 0.581, P: 0.023) and IMC (r: 0.575, P: 0.025). Clozapine group took less antipsychotics [Fisher (P: 0.045)] and had higher scores in total BRPS scale [t-Student (P: 0.036)]. They did not use more cardiometabolic treatment. There were no psychopathological differences between cardiometabolic treated/non-treated patients. In the non-cardiometabolic treated group (n = 35/62,5%), IMC negatively correlated with positive and total BPRS, positive, cognitive and global-CGI. We found negative correlations between metabolic parameters and psychopathology in clozapine (40%) and non-clozapine subgroups (60%). In the cardiometabolic treated group (n = 21/37,5%), we did not find these correlations in either of clozapine (61.9%) or non-clozapine (38.1%) subgroups.
Severity , prolactine  and treatment  could play a role in metabolic parameters. In our sample we found negative correlations between psychopathological and metabolic parameters.
References not available.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
For resistant schizophrenia, the only approved treatment is clozapine. However, clozapine is underused, mainly due to its wide range of side-effects. Secondary effects differ amongst antipsychotics (Leucht et al., 2009). Despite that there is no good evidence that combined antipsychotics offer any advantage over the use of a single antipsychotic, combination increases the frequency of adverse events (Maudsley guidelines).
To compare the side-effect profile between clozapine and non-clozapinepatients.
To provide evidence that clozapine patients do not show a worse side-effects profile.
We cross-sectionally analysed all patients from a Spanish long-term mental care facility (n = 139). Schizophrenic/schizoaffective patients were selected (n = 118) and their treatment was assessed, 31 patients used clozapine. We paired clozapine and non-clozapine patients by sex and age and assessed antipsychotic side effects and possible confounder variables.
Our sample was 27 clozapine patients and 29 non-clozapine patients. 67,9% were male with a mean age of 51.3 (SD 9.6) years. For continuous variables: age, BMI, waist/hip, cholesterol, TG, glucose, prolactin, heart-rate, blood pressure, sleeping hours, the only statistical differences found were lower heart-rate (P = 0.001) in clozapine group and higher salivation subscale of SAS (P = 0.002) in clozapine group. For discrete variables: monotherapy, obesity, overweight, metabolic syndrome or possible confounders as propranolol, laxative, diet, antiglycemiant or insulin, fibrates or statins, antihypertensive or anticholinergic, no statistical differences were found.
We did not find differences in cardiometabolic parameters, which are the main barrier to prescribing clozapine, probably due to the concomitant use of other drugs in both groups.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
We describe the case of an 11-month-old girl with a rare cerebellar glioblastoma driven by a NACC2-NTRK2 (Nucleus Accumbens Associated Protein 2-Neurotrophic Receptor Tyrosine Kinase 2) fusion. Initial workup of our case demonstrated homozygous CDKN2A deletion, but immunohistochemistry for other driver mutations, including IDH1 R132H, BRAF V600E, and H3F3A K27M were negative, and ATRX was retained. Tissue was subsequently submitted for personalized oncogenomic analysis, including whole genome and whole transcriptome sequencing, which demonstrated an activating NTRK2 fusion, as well as high PD-L1 expression, which was subsequently confirmed by immunohistochemistry. Furthermore, H3 and IDH demonstrated wildtype status. These findings suggested the possibility of treatment with either NTRK- or immune checkpoint- inhibitors through active clinical trials. Ultimately, the family pursued standard treatment that involved Head Start III chemotherapy and proton radiotherapy. Notably, at most recent follow upapproximately two years from initial diagnosis, the patient is in disease remission and thriving, suggesting favorable biology despite histologic malignancy. This case illustrates the value of personalized oncogenomics, as the molecular profiling revealed two actionable changes that would not have been apparent through routine diagnostics. NTRK fusions are known oncogenic drivers in a range of cancer types, but this is the first report of a NACC2-NTRK2 fusion in a glioblastoma.
This presentation will enable the learner to:
1. Explore the current molecular landscape of pediatric high grade gliomas
2. Recognize the value of personalized oncogenomic analysis, particularly in rare and/or aggressive tumors
3. Discuss the current status of NTRK inhibitor clinical trials
Filarial nematodes possess glutathione transferases (GSTs), ubiquitous enzymes with the potential to detoxify xenobiotic and endogenous substrates, and modulate the host immune system, which may aid worm infection establishment, maintenance and survival in the host. Here we have identified and characterized a σ class glycosylated GST (OoGST1), from the cattle-infective filarial nematode Onchocerca ochengi, which is homologous (99% amino acid identity) with an immunodominant GST and potential vaccine candidate from the human parasite, O. volvulus, (OvGST1b). Onchocerca ochengi native GSTs were purified using a two-step affinity chromatography approach, resolved by 2D and 1D SDS-PAGE and subjected to enzymic deglycosylation revealing the existence of at least four glycoforms. A combination of lectin-blotting and mass spectrometry (MS) analyses of the released N-glycans indicated that OoGST1 contained mainly oligomannose Man5GlcNAc2 structure, but also hybrid- and larger oligommanose-type glycans in a lower proportion. Furthermore, purified OoGST1 showed prostaglandin synthase activity as confirmed by Liquid Chromatography (LC)/MS following a coupled-enzyme assay. This is only the second reported and characterized glycosylated GST and our study highlights its potential role in host-parasite interactions and use in the study of human onchocerciasis.
The predominantly carbonate nature of the mountains near the coast of Málaga and Marbella (Costa del Sol, southern Spain) and the presence of springs have favored the formation of travertine buildups during the Quaternary. The geomorphic characteristics of the slopes and the location of the springs have determined the development of three types of travertine growths: (1) spring travertines, located preferentially on the south mountainside, where the slope is steepest; (2) pool-dam-cascade travertines, which form along the north and east edges, far from the carbonate relief and with a gentler slope; and (3) river-valley travertines, formed in the courses of the springs of any sector. Field observations combined with new amino acid racemization (AAR) dating of Helicidae gastropods show that most of the travertine formations are polyphasic and that their development was interrupted by stages of erosion and incision. Five stages of travertine development are evident, most of which are related to warm, moist episodes corresponding to marine oxygen isotope stages (MIS) 7, 5, 3, and 1, although local travertine growth also occurred during MIS 6 and during the transition from MIS 3 to 2.
This work combines very detailed measurements from terrestrial laser scanner (TLS), ground-based interferometry radar (GB-SAR) and ground-penetrating radar (GPR) to diagnose current conditions and to analyse the recent evolution of the Monte Perdido Glacier in the Spanish Pyrenees from 2011 to 2017. Thus, this is currently one of the best monitored small glacier (<0.5 km2) worldwide. The evolution of the glacier surface was surveyed with a TLS evidencing an important decline of 6.1 ± 0.3 m on average, with ice losses mainly concentrated over 3 years (2012, 2015 and 2017). Ice loss is unevenly distributed throughout the study period, with 10–15 m thinning in some areas while unchanged areas in others. GB-SAR revealed that areas with higher ice losses are those that are currently with no or very low ice motion. In contrast, sectors located beneath the areas with less ice loss are those that still exhibit noticeable ice movement (average 2–4.5 cm d─1 in summer, and annual movement of 9.98 ma─1 from ablation stakes data). GPR informed that ice thickness was generally <30 m, though locally 30–50 m. Glacier thinning is still accelerating and will lead to extinction of the glacier over the next 50 years.
Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~1.5 Mb of sequence encoding approximately 24 genes. Some 5–8% of patients with WS have a deletion exceeding 1.8 Mb, thereby affecting two additional genes, including GTF2IRD2. Currently, there is no consensus regarding the implications of GTF2IRD2 loss for the neuropsychological phenotype of WS patients. Objectives: The present study aimed to identify the role of GTF2IRD2 in the cognitive, behavioral, and adaptive profile of WS patients. Methods: Twelve patients diagnosed with WS participated, four with GTF2IRD2 deletion (atypical WS group), and eight without this deletion (typical WS group). The age range of both groups was 7–18 years old. Each patient’s 7q11.23 deletion scope was determined by chromosomal microarray analysis. Cognitive, behavioral, and adaptive abilities were assessed with a battery of neuropsychological tests. Results: Compared with the typical WS group, the atypical WS patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition. Conclusions: These findings provide new evidence regarding the influence of the GTF2IRD2 gene on the severity of behavioral symptoms of WS related to social cognition and certain visuospatial abilities. (JINS, 2018, 24, 896–904)