Relationship between cognition and age at onset of first-episode psychosis: comparative study between adolescents, young adults, and adults.

Psychotic disorders typically manifest from late adolescence to early adulthood, and an earlier onset might be associated with greater symptom severity and a worse long-term prognosis. This study aimed to compare the cognitive characteristics of patients with first-episode psychosis (FEP) by their age at onset. We included 298 patients diagnosed with FEP and classified them as having an early onset (EOS), youth onset (YOS), or adult onset (AOS) based on age limits of ≤ 18 years (N = 61), 19-24 years (N = 121), and ≥ 25 years (N = 116), respectively. Socio-demographic and clinical variables included age at baseline, gender, socio-economic status, antipsychotic medication, DSM-IV diagnoses assessed by clinical semi-structured interview, psychotic symptom severity, and age at onset. Neuropsychological assessment included six cognitive domains: premorbid intelligence, working memory, processing speed, verbal memory, sustained attention, and executive functioning. The EOS group had lower scores than the YOS or AOS groups in global cognition, executive functioning, and sustained attention. Although the scores in the YOS group were intermediate to those in the EOS and AOS groups for most cognitive factors, no statistically significant differences were detected between the YOS and AOS groups. Age at onset results in specific patterns of cognitive interference. Of note, impairment appears to be greater with EOS samples than with either YOS or AOS samples. A longitudinal study with a larger sample size is needed to confirm our findings.

Comparison of robotic-assisted vs conventional laparoscopy for extraperitoneal paraaortic lymphadenectomy.

OBJECTIVE: To evaluate the perioperative outcomes of robotic-assisted extraperitoneal paraaortic lymphadenectomy for locally advanced cervical cancer and to compare to a previous series of patients from our institution undergoing the same procedure by conventional laparoscopy. METHODS: 17 patients with locally advanced cervical cancer (FIGO stages IB2, IIA2 and IIB-IVA) underwent pretherapeutic extraperitoneal paraaortic lymphadenectomy by robotic-assisted laparoscopy. Perioperative outcomes including age, BMI, FIGO stage, operating time, blood loss, complications and length of hospital stay were compared to a series of 83 patients from our institution undergoing the same procedure by conventional laparoscopy. RESULTS: The median values for operating time and hospital days for the robotic-assisted and conventional laparoscopy groups were 150 vs. 150 min and 2 vs 2 days, respectively. In the robotic group, blood loss was lower (90 vs 20 ml, p<0.05) and more aortic nodes were removed (14 vs 17 nodes, p<0.05). Docking time was 7 min (range 3-15). There were no intraoperative complications. There were no differences for postoperative complications (17.6% vs 8.4%). CONCLUSION: Robotic-assisted and conventional laparoscopy provide similar perioperative outcomes other than lower blood loss and higher number of aortic nodes removed (both without clinical impact) in robotic patients for the performance of extraperitoneal paraaortic lymphadenectomy in patients with locally advanced cervical cancer. We believe that robotic surgery is an additional tool to perform the same surgical procedure. HIGHLIGHTS: Robotic-assisted and conventional laparoscopic extraperitoneal paraaortic lymphadenectomy provide similar perioperative outcomes.

Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Location of aortic node metastases in locally advanced cervical cancer.

BACKGROUND: To assess the location of aortic node metastasis in patients with locally advanced cervical cancer undergoing extraperitoneal aortic lymphadenectomy to define the extent of the aortic lymphadenectomy. MATERIAL AND METHODS: Between August 2001 and December 2010, 100 consecutive patients with primary locally advanced cervical cancer underwent extraperitoneal laparoscopic aortic and common iliac lymphadenectomy. The location of aortic node metastases, inframesenteric or infrarenal was noted. RESULTS: The mean number±standard deviation (SD) of aortic nodes removed was 15.9 ± 7.8 (range 4-62). The mean number ± SD of inframesenteric (including common iliac) nodes removed was 8.8 ± 4.5 (range 2-41) and the mean number ± SD of infrarenal nodes removed was 7.8 ± 4.1 (range 2-21). Positive aortic nodes were observed in 16 patients, and in 5 (31.2%) of them the infrarenal nodes were the only nodes involved, with negative inframesenteric nodes. CONCLUSION: Inframesenteric aortic nodes are negative in the presence of positive infrarenal nodes in about one third of patients with locally advanced cervical cancer and aortic metastases.

Processing speed and executive functions predict real-world everyday living skills in adolescents with early-onset schizophrenia.

Cognition and clinical variables are known to be among the most predictive factors of real-world social functioning and daily living skills in adult-onset schizophrenia. Fewer studies have focused on their impact in adolescents with early-onset schizophrenia (EOS). The aim of this study is to examine the relationships and the predictive value of cognition and clinical variables on real-world daily living skills in a sample of adolescents with EOS. Cognitive, clinical and real-world everyday living skills measures were administered to 45 clinically and pharmacologically stabilized adolescent outpatients with EOS and 45 healthy control subjects matched by age and sex. Multi-variant analyses to compare cognitive and real-world functioning profiles between patients and controls and regression analysis to identify predictors of real-world functioning scores in patients were used. Adolescents with EOS showed a generalized cognitive and real-world daily living skills dysfunction. Several cognitive and clinical variables significantly correlated with real-world daily living skills functioning but only the processing speed and executive functions emerged as independent predictors of everyday living skills scores, explaining 25.1% of the variance. Slowness in processing information and executive dysfunction showed a significant impact on real-world daily living skills in EOS, independently from clinical symptoms and other cognitive variables. Nevertheless, much of the variance in the daily living skills measure remained unaccounted for, suggesting that other factors were involved as well in this young population.

Theory of mind in neurodevelopmental disorders: Beyond autistic spectrum disorder. / Teoría de la mente en trastornos del neurodesarrollo: más allá del trastorno del espectro autista.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n=19), TS (n=14), or ASD (n=18), and a control group (n=20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder.

Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology.

Modified approach for extraperitoneal laparoscopic staging for locally advanced cervical cancer.

Describe a modified approach to the technique for staging laparoscopic extraperitoneal aortic and common iliac lymph node dissection for locally advanced cervical cancer.Retrospective, nonrandomized clinical study. (Canadian Task Force classification II-2), setting in an acute-care, teaching hospital. Thirty-six patients with locally advanced cervical cancer underwent laparoscopic surgical staging via extraperitoneal approach with the conventional or the modified technique from August 2001 through September 2004. Clinical outcomes in 23 patients who were operated on with the conventional technique using index finger for first trocar entrance; 12 patients with the modified technique using direct trocar entrance, were compared. One patient was excluded due to peritoneal carcinomatosis. Technique, baseline characteristics, histopathologic variables and surgical outcome were measured. There were no significant differences in patients basal characteristics on comparative analysis between conventional and modified technique. With our proposed modified technique, we obtained a reduced surgical procedure duration and blood loss. The proposed modified surgical technique offers some advantages, is an easier approach because the parietal pelvic peritoneum is elastic and this helps to avoid its disruption at time of trocar insertion, size of incision is shorter, we achieved no CO2 leak through the trocar orifice, and wound suture is fast and simple.

Interaction between N-terminal domain of H4 and DNA is regulated by the acetylation degree.

To study whether the acetylation of one or more of the four acetylatable lysines of histone H4 affects its binding to DNA, we have designed a protection experiment with a model system consisting in phage lambda DNA as substrate, StuI as restriction endonuclease and histone H4 with different degrees of acetylation as the protective agent. It can be deduced from the experimental data that the protection afforded by the histone is not dependent on the number of positive charges lost by acetylation. Thus, non-acetylated H4 and mono-acetylated H4 cause similar protection, while di-acetylation of the histone seems to be the crucial step in significantly weakening the interaction between H4 and DNA. This is confirmed by the results obtained in protection experiments carried out using H4 peptide (1-24) with different degrees of acetylation as the protecting agent. As restriction enzyme can imitate any trans-acting factor with sequence recognition, the di-acetylated isoform of histone H4 can be the starting point, through acetylation, to unmask DNA sequences, allowing the accessibility of regulatory factors to DNA in the chromatin.

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish FH patients up to now. To gain information on this issue, we have analysed a group of 113 unrelated Spanish FH patients from an eastern area of Spain (Valencian Community). We have screened the LDLR gene by Southern blot and PCR-SSCP analysis to detect large rearrangements and small mutations, respectively. In addition, we have screened the Apo B gene for mutations known to cause FDB by PCR-SSCP analysis. We have identified a total of 47 different mutations in the LDLR gene (5 large rearrangements, and 42 small mutations, which were characterized by DNA sequencing), 19 of which have not been described in other populations (Valencia-1 to -4, 112insA, P160R, 790DelATGA, 920insTCAG, G642E, and the ten novel mutations E246A, 884delT, I289T, S305F, Q328X, Y354C, I603del, 2312-3C>A, V779M, and N804K). Three of these mutations (15%) were present in more than 1 proband, being mutation 112insA the most prevalent (frequency approximately 8%) in our sample. The Apo B gene R3500Q mutation was found in only one patient and no underlying defect was found in about 27% of patients. Our data support the notion that Spaniards represent a heterogeneous population with its own spectrum of LDLR gene mutations and that, in our population, FDB has a lower frequency or a milder expression than in central Europe countries.

Temporal trends of PCDDs/PCDFs in ambient air in Catalonia (Spain).

This paper reports the results of an assessment of dioxin levels in ambient air in samples collected in the four provinces of Catalonia (Spain) performed by the Environment Department of the Autonomous Government of Catalonia and the Spanish Council for Scientific Research (CSIC). The study includes compiled data of more than 133 samples collected in 28 different sites (rural, urban, suburban and industrial) between 1994 and 2002. The levels revealed a variable content of polychlorinated dibenzo-p-dioxins/polychlorinated dibenzofurans (PCDDs/PCDFs) depending both on the area and the contamination source. Thus, concentrations from 16 to 954 fg I-TEQ/Nm(3), with a mean value of 180 fg I-TEQ/Nm(3), were determined in industrial areas. The levels found in urban and suburban sites varied from 10 to 357 fg I-TEQ/Nm(3), with a mean value of 80 fg I-TEQ/Nm(3). The lowest concentrations were found in rural areas, ranging from 5 to 125 fg I-TEQ/Nm(3), with a mean value of 42 fg I-TEQ/Nm(3). As part of the project, levels of samples collected in parallel using two different samplers, a total suspended particulate (TSP) sampler and PM10 sampler, were compared. The results of 11 different campaigns indicated that both methods are comparable and no significant differences were determined.

Isolated thrombosis of the external jugular vein.

Thrombosis of the external jugular vein (EJV) is an infrequent clinical condition that has been associated with central venous catheterization, head and neck infections, intravenous drug abuse, and compression at the affected site. The authors report a case of thrombotic obstruction of the EJV in the late postoperative period after laparoscopic anterior lumbar interbody fusion. A 40-year-old morbidly obese woman with a depressive syndrome was diagnosed with L5-S1 discopathy and was submitted to laparoscopic anterior isthmic fusion. The operation lasted approximately 6 hours, during which the patient remained in a supine decubitus and Trendelenburg position. The left radial artery, peripheral veins, and right internal jugular vein were canalized. The internal jugular vein catheter was electively withdrawn 24 hours after the intervention. The postoperative period was satisfactory, and the patient was started on prophylaxis with low-molecular-weight heparin. She sat up and began walking at 24 hours and was discharged to her home 4 days after the procedure. Eight days after discharge she returned, experiencing right cervical pain. Palpation revealed a painful induration and erythematous area under the anterior edge of the sternocleidomastoid muscle. Results of otoscopy and laryngoscopy were normal. Cervical echo-Doppler disclosed an image consistent with EJV thrombosis. The most frequent causes of jugular vein thrombosis are mentioned above. A higher incidence has been described after upper abdomen and pelvic surgery; other contributing factors are age, obesity, and associated illness. There are few references in the literature to position-induced EJV thrombosis in the late postoperative period. The authors' patient presented signs and symptoms of EJV thrombosis (probably because of various factors), which was confirmed by echo-Doppler study and treated with 10 days of calcic heparin.

[Familial hypercholesterolemia: molecular identification and characterization of the first compound homozygote in Spain]. / Hipercolesterolemia familiar: identificación y caracterización molecular del primer homozigoto compuesto español.

Homozygous familial hypercholestrolemia (FH) is a rare genetic disorder (one in 1 million persons) due to two different mutations in the LDL receptor gene (compound homozygous) or, rarely, to the presence of the same mutation in the two aleles. In these patients the absence of a functional LDL receptor produces extreme elevations of plasma cholesterol levels that need an aggressive and expensive treatment with LDL apheresis or hepatic transplantation. The clinical evolution is poor with early coronary heart disease. Molecular biology techniques allow a genetic diagnosis and a genetic counseling in the affected subjects. We have identified and characterized the first compound homozygous of FH in Spain using the single strand conformational polymorphism (SSCP) analysis. The patient is a 30 years old female, who carried two different mutations in the LDL receptor gene: the G528V and the D280G (a new mutation). These mutations produce significant changes in the aminoacid sequence and could be classified as class 2.

[The clinical incidence of frontal dementia]. / Incidencia clínica de la demencia frontal.

INTRODUCTION AND OBJECTIVES: Although the neuropathology of Pick s disease and the frontal lobe dementias has been well defined, the complexity of the clinical diagnosis makes epidemiological studies difficult. The objective of this study was to determine the annual clinical incidence of fronto temporal dementia. PATIENTS AND METHODS: A retrospective observational study was made of the diagnoses of all persons attended in UVAMID during the period 1999 2000. Clinical evaluation was standardized following a protocol of the UVAMID. This included a clinical history obtained by interviewing the patient and a reliable informant, general medical and neurological examination, neuropsychological examination and a battery of complementary tests. RESULTS: In clinical practice the incidence of the different types of dementia varies between 93/100,000 in Alzheimer type dementia and 14/100,000 in DFT f. When age groups are considered, there is a progressive increase in the incidence of DFT f with 12/100,000 in the age group 46 69 years and 57/100,000 in the group of 75 79 years. CONCLUSIONS: The results of this study show that cases of DFT f form 2.7% of the new cases occurring annually. The main limitation of this study is that since these patients were referred for consultation from primary care centres, they form a non representative clinically biased sample which limits extrapolation of the results.

Characterization of enteroaggregative Escherichia coli strains isolated from children with acute diarrhea, in Mendoza, Argentina.

Enteroaggregative Escherichia coli (EAEC) is an increasingly recognized cause of diarrhea in children in developing and developed countries. EAEC is recognized by a characteristic aggregative pattern of adherence to human epithelial (HEp-2) cells cultured in vitro. This is the gold standard assay. The aggregative phenotype is associated with the presence of a 65 MDa plasmid (pAA) that also encodes several other putative virulence factors, such as the aggregative adherence fimbria I (AAF/I) and the enteroaggregative heat-stable enterotoxin (EAST1). The objective of this work was to evaluate the application of PCR (polymerase chain reaction) to identify EAEC strains in cases of acute diarrhea. A total of 87 E. coli strains, isolated from patients under 2 years of age with acute diarrhea in Mendoza, Argentina, were characterized by the reference method (HEp-2 assay), and by AAF/I- and EAST1-PCR. PCR sensitivity and specificity in comparison with the cell culture assay showed 94.4% sensitivity and 78.26% specificity. EAST1- and AAF/I-PCR could be recommended as a screening test, applicable to epidemiologic studies.

Laparoscopic repair of non-complicated lumbar hernia secondary to a latissimus dorsi flap.

UNLABELLED: Lumbar hernia is an unusual complication of the latissimus dorsi flap. Traditionally, it has always been repaired using open-surgery techniques. We present the first description of laparoscopic surgery to treat a non-complicated superior lumbar hernia resulting from the creation of an enlarged latissimus dorsi myocutaneous flap for breast reconstruction following left modified radical mastectomy. The laparoscopic approach substantially reduced the risks associated with open surgery, shortened length of hospital stay and time to recovery and obtained better cosmetic results. Laparoscopic surgery may be considered as a feasible therapeutic option for non-complicated superior lumbar hernias secondary to a latissimus dorsi muscle flap. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, V.

Assessment of real-world daily-living skills in early-onset schizophrenia trough the Life Skills Profile scale.

BACKGROUND: Adolescents with early-onset schizophrenia (EOS) have marked deficits in their functional outcome. However, few short and reliable instruments for assessing real-world functioning have been specifically validated in EOS. The Life Skills Profile (LSP) is a brief scale widely used in schizophrenia and considered one of the optimal instruments for assessing real-world daily living skills. The purpose of this study was to examine the usefulness and the feasibility of the LSP to assess daily living skills in EOS. METHODS: The sample included 53 clinically and pharmacologically stabilized adolescent patients with EOS and 53 healthy adolescents. Content review of the scale and internal consistency analysis were conducted in the EOS group. A subgroup of 30 patients was re-assessed over a 10-day interval to establish the test-retest reliability. Measures of functional outcome were used to assess convergent validity, and measures of intelligence and symptoms were used to assess divergent validity. Discriminant validity was analyzed through logistic analysis and the receiver-operating characteristic curve. RESULTS: The LSP and its subscales showed high reliability, adequate internal consistency and adequate convergent and divergent validity. The LSP was also found to be a sensitive instrument for detecting differences between patients and healthy adolescents, correctly classifying 84% of the sample. The estimated area under the curve was 0.925 (95% CI 0.875-0.976). CONCLUSIONS: The LSP showed adequate psychometric characteristics in adolescents with EOS and appeared to be a valid, reliable and time-efficient instrument for use in clinical practice and research settings to assess real-world daily-living skills in EOS.

[Gender differences in cognitive functions and influence of sex hormones]. / Diferencias de género en las funciones cognitivas e influencia de las hormonas sexuales.

OBJECTIVE: To review scientific evidence on gender differences in cognitive functions and influence of sex hormones on cognitive performance. METHOD: Systematical search of related studies identified in Medline. RESULTS: Women outperform men on verbal fluency, perceptual speed tasks, fine motor skills, verbal memory and verbal learning. Men outperform women on visuospatial ability, mathematical problem solving and visual memory. No gender differences on attention and working memory are found. Researchers distinguish four methods to investigate hormonal influence on cognitive performance: a) patient with hormonal disorders; b) neuroimaging in individuals during hormone administration; c) in women during different phases of menstrual cycle, and d) in patients receiving hormonal treatment (idiopathic hypogonadotropic hypogonadism, postmenopausal women and transsexuals). The findings mostly suggest an influence of sex hormones on some cognitive functions, but they are not conclusive because of limitations and scarcity of the studies. CONCLUSIONS: There are gender differences on cognitive functions. Sex hormones seem to influence cognitive performance.

Interaction of the U1 snRNP with nonconserved intronic sequences affects 5' splice site selection.

Intron definition and splice site selection occur at an early stage during assembly of the spliceosome, the complex mediating pre-mRNA splicing. Association of U1 snRNP with the pre-mRNA is required for these early steps. We report here that the yeast U1 snRNP-specific protein Nam8p is a component of the commitment complexes, the first stable complexes assembled on pre-mRNA. In vitro and in vivo, Nam8p becomes indispensable for efficient 5' splice site recognition when this process is impaired as a result of the presence of noncanonical 5' splice sites or the absence of a cap structure. Nam8p stabilizes commitment complexes in the latter conditions. Consistent with this, Nam8p interacts with the pre-mRNA downstream of the 5' splice site, in a region of nonconserved sequence. Substitutions in this region affect splicing efficiency and alternative splice site choice in a Nam8p-dependent manner. Therefore, Nam8p is involved in a novel mechanism by which a snRNP component can affect splice site choice and regulate intron removal through its interaction with a nonconserved sequence. This supports a model where early 5' splice recognition results from a network of interactions established by the splicing machinery with various regions of the pre-mRNA.