Percutaneous ablation of renal tumors: Long-term outcomes.

OBJECTIVE: To evaluate the long-term outcomes of renal tumor ablation, analyzing efficacy, long-term survival, and factors associated with complications and therapeutic success. MATERIAL AND METHODS: We retrospectively reviewed 305 ablations (generally done with expandable electrodes) of 273 renal tumors between May 2005 and April 2019. We analyzed survival, primary and secondary efficacy, and complications according to various patient factors and tumor characteristics. RESULTS: Mean blood creatinine was 1.14 mg/dL before treatment and 1.30 mg/dL after treatment (p < 0.0001). Complications were observed in 13.25% of the ablations, including major complications in in 4.97%. Complications were associated with age (p = 0.013) and tumor diameter (p < 0.0001). Primary efficacy was 96.28%. Incomplete ablation was more common in lesions measuring > 4 cm in diameter (p = 0.002). Secondary efficacy was 95.28%. The only factor associated with the risk of recurrence was the size of the tumor (p = 0.02). Overall survival was 95.26% at 1 year, 77.01% at 5 years, and 51.78% at 10 years, with no differences between patients with malignant and benign lesions. Mortality was higher in patients with creatinine >1 (p = 0.05) or ASA > 2 (p = 0.0001). CONCLUSIONS: Percutaneous ablation is extremely efficacious for renal tumors; it improves the prognosis of renal carcinoma to the point where it does not differ from that of benign lesions. Complications are rare. Like survival, complications are associated with age and overall health status.

Ablación percutánea de tumores renales: resultados a largo plazo / Percutaneous ablation of renal tumors: long-term outcomes

Objetivo: Valorar resultados a largo plazo de la ablación de tumores renales analizando eficacia, supervivencia a largo plazo y factores asociados con complicaciones y éxito terapéutico. Material y métodos: Revisión retrospectiva de 305 ablaciones, en general usando radiofrecuencia con electrodos desplegables, sobre 273 lesiones de tumores renales entre mayo de 2005 y abril de 2019. Se analizaron supervivencia, eficacia primaria y secundaria y complicaciones relacionándolas con diversos factores del paciente y características de los tumores tratados. Resultados: La creatinina en sangre media previa al tratamiento fue de 1,14 mg/dL y al año de 1,30 mg/dL (p <0,0001). Hubo complicaciones en el 13,25% de las ablaciones (mayores, 4,97%) que se relacionaron con la edad (p=0,013) y el diámetro tumoral (p <0,0001). La eficacia primaria fue del 96,28%. Las lesiones de más de 4 cm fueron más propensas a presentar ablaciones incompletas (p=0,002). La eficacia secundaria fue del 95,28%. El riesgo de recurrencia se relacionó solo con el tamaño del tumor (p=0,02). La supervivencia global fue del 95,26% al año, 77,01% a los 5 años y 51,78% a los 10 años. No se observaron diferencias en función de la naturaleza maligna o benigna de la lesión tratada. La mortalidad aumentaba en pacientes con creatinina superior a 1 (p=0,05) o ASA >2 (p=0,0001). Conclusiones: La ablación percutánea de tumores renales es una técnica de altísima eficacia, que permite igualar el pronóstico de un carcinoma renal, tras el tratamiento, al de una lesión benigna. Las complicaciones son muy infrecuentes y se relacionan, al igual que la supervivencia, con la edad y el estado de salud del paciente.(AU)

Objective: To evaluate the long-term outcomes of renal tumor ablation, analyzing efficacy, long-term survival, and factors associated with complications and therapeutic success. Material and methods: We retrospectively reviewed 305 ablations (generally done with expandable electrodes) of 273 renal tumors between May 2005 and April 2019. We analyzed survival, primary and secondary efficacy, and complications according to various patient factors and tumor characteristics. Results: Mean blood creatinine was 1.14 mg/dL before treatment and 1.30 mg/dL after treatment (p <0.0001). Complications were observed in 13.25% of the ablations, including major complications in in 4.97%. Complications were associated with age (p=0.013) and tumor diameter (p <0.0001). Primary efficacy was 96.28%. Incomplete ablation was more common in lesions measuring> 4 cm in diameter (p=0.002). Secondary efficacy was 95.28%. The only factor associated with the risk of recurrence was the size of the tumor (p=0.02). Overall survival was 95.26% at 1 year, 77.01% at 5 years, and 51.78% at 10 years, with no differences between patients with malignant and benign lesions. Mortality was higher in patients with creatinine>1 (p=0.05) or ASA> 2 (p=0.0001). Conclusions: Percutaneous ablation is extremely efficacious for renal tumors; it improves the prognosis of renal carcinoma to the point where it does not differ from that of benign lesions. Complications are rare. Like survival, complications are associated with age and overall health status.(AU)

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.

Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.

Correction to: Interest in Research Participation Among Caregivers of Children with Neurodevelopmental Disorders.

During the publication process, an author "M. Pinkett-Davis", who helped conceptualize and revise this study was accidentally excluded from the authorship list. The revised author group is now: Kalb, L., Jacobson, L., Zisman, C., Mahone, E., Landa, R., Azad, G., Pinkett-Davis, M., Menon, D., Singh, V., Zabel, A., & Pritchard, A. Please use this authorship list when citing this manuscript.

Interest in Research Participation Among Caregivers of Children with Neurodevelopmental Disorders.

The goal of this study was to examine caregiver agreement to hear about local research opportunities by joining a clinical research registry. Data from this cross-sectional study were gathered, between 2014 and 2017, across two outpatient clinics: (1) a multidisciplinary Autism Spectrum Disorder (ASD) clinic (N = 5228) and (2) a general psychology clinic serving youth with, or at risk for, a neurodevelopmental disorder (NDD; N = 5040). Overall, more than 8 in 10 caregivers agreed to join the registry. Several child clinical characteristics, as well as racial and sociodemographic factors, were predictive of parental agreement. Findings suggest caregivers of youth with ASD and NDD are amenable to joining the local research enterprise, however further work is needed to understand why some caregivers decline.

Interventional radiology neck procedures. / Intervencionismo en el cuello.

Ultrasonography has become extremely useful in the evaluation of masses in the head and neck. It enables us to determine the anatomic location of the masses as well as the characteristics of the tissues that compose them, thus making it possible to orient the differential diagnosis toward inflammatory, neoplastic, congenital, traumatic, or vascular lesions, although it is necessary to use computed tomography or magnetic resonance imaging to determine the complete extension of certain lesions. The growing range of interventional procedures, mostly guided by ultrasonography, now includes biopsies, drainages, infiltrations, sclerosing treatments, and tumor ablation.

Relation between early motor delay and later communication delay in infants at risk for autism.

BACKGROUND: Motor delays have been reported in retrospective studies of young infants who later develop Autism Spectrum Disorders (ASDs). OBJECTIVE: In this study, we prospectively compared the gross motor development of a cohort at risk for ASDs; infant siblings of children with ASDs (AU sibs) to low risk typically developing (LR) infants. METHODS: 24 AU sibs and 24 LR infants were observed at 3 and 6 months using a standardized motor measure, the Alberta Infant Motor Scale (AIMS). In addition, as part of a larger study, the AU sibs also received a follow-up assessment to determine motor and communication performance at 18 months using the Mullen Scales of Early Learning. RESULTS: Significantly more AU sibs showed motor delays at 3 and 6 months than LR infants. The majority of the AU sibs showed both early motor delays and later communication delays. LIMITATIONS: Small sample size and limited follow-up. CONCLUSIONS: Early motor delays are more common in AU sibs than LR infants. Communication delays later emerged in 67-73% of the AU sibs who had presented with early motor delays. Overall, early motor delays may be predictive of future communication delays in children at risk for autism.

Social and non-social visual attention patterns and associative learning in infants at risk for autism.

BACKGROUND: Social inattention is common in children with autism whereas associative learning capabilities are considered a relative strength. Identifying early precursors of impairment associated with autism could lead to earlier identification of this disorder. The present study compared social and non-social visual attention patterns as well as associative learning in infant siblings of children with autism (AU sibs) and low-risk (LR) infants at 6 months of age. METHODS: Twenty-five AU sibs and 25 LR infants were observed in a novel social-object learning task, within which attention to social and non-social cues was contrasted. Video recorded data were coded for percent duration of gaze to objects or caregiver. Movement rates to activate the toy within the associative learning task were also quantified. RESULTS: Both groups learned the association between moving a switch and activating a cause-effect toy. AU sibs spent less time looking at caregivers and more time looking at the toy or joystick when their caregivers made no attempts to engage their attention. However, response to caregiver-initiated social bids was comparable for both groups. CONCLUSIONS: Infrequent self-initiated socially directed gaze may be an early marker of later social and communication delays.

[Hearing in children with a history of acute otitis media. Use of paracentesis].

The examination of 103 children aged 1 year to 5 years had acute otitis media purulenta. They were treated with paracentesis which had a positive effect on recovery of the acoustic function. It is shown that children with previous acute otitis media should be followed up to control recovery of hearing.

Carcass and meat quality of Assaf milk fed lambs: Effect of rearing system and sex.

The effect of sex and rearing system on growth and carcass and meat characteristics of milk fed Assaf lambs was studied. Thirty-six lambs, 18 males and 18 females were used. Twelve lambs remained with their mothers throughout the experiment (NR). Within 24-36h of birth, the rest were housed individually and fed twice a day ad libitum (AAR) or at 70% of ad libitum consumption (RAR) with reconstituted cow's milk. Sex did not affect animal performance, yet females showed higher carcass and non-carcass fat deposits. NR lambs showed greater BWG than AAR fed lambs, and AAR, higher than the RAR. Differences between naturally and artificially reared lambs in CCW and killing out percentage were not significant. Empty digestive tract and mesenteric fat weights were greater for RAR than NR lambs, with the AAR lambs demonstrating intermediate values; conversely, omental fat was greater in NR lambs. Carcass ether extract content was greater for NR lambs, possibly due to the greater growth. Use of ad libitum cow's milk substitute in suckling lambs twice a day resulted in less body weight gain but similar killing out percentages compared to naturally raised lambs. A 70% restricted supply increased the days in suckling and reduced carcass fatness and compactness. Except for water loss, which was less in NR than artificially fed lambs, no differences were found in meat characteristics.

Normal physiological emotions but differences in expression of conscious feelings in children with high-functioning autism.

To provide insight into what aspects of the emotional circuit might be affected in high-functioning autism, we measured indices of physiological emotions and of the expression of conscious feelings in 10 children with high-functioning autism or Asperger syndrome and 10 comparison participants. Pleasant, unpleasant, and neutral pictures were presented while skin conductance responses were measured. Self-report ratings of pleasantness and interestingness were taken between pictures. Skin conductance responses did not differ between the groups. Self report ratings were different, with the children with autism giving more similar answers to the two questions than the comparison children. Impairments in socio-emotional expression in autism may be related to deficits in perception and/or expression of conscious feelings; physiological emotions may be relatively preserved.

Subtle executive impairment in children with autism and children with ADHD.

BACKGROUND: The executive functions of inhibition, planning, flexible shifting of actions, and working memory are commonly reported to be impaired in neurodevelopmental disorders. METHOD: We compared these abilities in children (8-12 years) with high functioning autism (HFA, n = 17), attention deficit-hyperactivity disorder (ADHD, n = 21) and healthy controls (n = 32). Response inhibition was assessed using the Stroop Color and Word Test (Golden, 1978). Problem solving, set-shifting, and nonverbal memory were assessed using three tasks, respectively, from the CANTAB (Cambridge Cognition, 1996): the Stockings of Cambridge task; the Intra-Dimensional/Extra-Dimensional set-shifting task; and the Spatial Working Memory task (SWM) with tokens hidden behind 3, 4, 6, and 8 boxes. RESULTS: There were no group differences on the response inhibition, planning, or set-shifting tasks. On the SWM task, children with HFA made significantly more between-search errors compared with controls on both the most difficult problems (8-box) and on the mid-difficulty problems (6-box); however, children with ADHD made significantly more errors compared to controls on the most difficult (8-box) problems only. CONCLUSION: Our findings suggest that spatial working memory is impaired in both ADHD and HFA, and more severely in the latter. More detailed investigation is needed to examine the mechanisms that differentially impair spatial working memory, but on this set of tasks there appears to be sparing of other executive functions in these neuropsychiatric developmental disorders.

Deficits in the initiation of eye movements in the absence of a visual target in adolescents with high functioning autism.

BACKGROUND: We used ocular motor paradigms to examine whether or not saccades are impaired in individuals with high functioning autism (HFA). METHODS: We recorded eye movements in patients with HFA (n=11), and in normal adolescents (n=11) on anti-saccade, memory-guided saccade (MGS), predictive saccade and gap/overlap tasks. RESULTS: Compared with the normal subjects, patients with HFA had (1) a significantly higher percentage of directional errors on the anti-saccade task (63.2% versus 26.6%), (2) a significantly higher percentage of response suppression errors on a MGS task (60.3% versus 29.5%) and (3) a significantly lower percentage of predictive eye movements on a predictive saccade task. They also showed longer latencies on a MGS task and for all conditions tested on a gap/null/overlap task (fixation target extinguished before, simultaneously, or after the new peripheral target appeared). When the latencies during the gap condition were subtracted from the latencies in the overlap condition, there was no difference between patients and normals. CONCLUSIONS: Abnormalities in ocular motor function in patients with HFA provide preliminary evidence for involvement of a number of brain regions in HFA including the dorsolateral prefrontal cortex (dlPFC) and the frontal eye fields (FEFs) and possibly the basal ganglia and parietal lobes.

Lamotrigine therapy for autistic disorder: a randomized, double-blind, placebo-controlled trial.

In autism, glutamate may be increased or its receptors up-regulated as part of an excitotoxic process that damages neural networks and subsequently contributes to behavioral and cognitive deficits seen in the disorder. This was a double-blind, placebo-controlled, parallel group study of lamotrigine, an agent that modulates glutamate release. Twenty-eight children (27 boys) ages 3 to 11 years (M = 5.8) with a primary diagnosis of autistic disorder received either placebo or lamotrigine twice daily. In children on lamotrigine, the drug was titrated upward over 8 weeks to reach a mean maintenance dose of 5.0 mg/kg per day. This dose was then maintained for 4 weeks. Following maintenance evaluations, the drug was tapered down over 2 weeks. The trial ended with a 4-week drug-free period. Outcome measures included improvements in severity and behavioral features of autistic disorder (stereotypies, lethargy, irritability, hyperactivity, emotional reciprocity, sharing pleasures) and improvements in language and communication, socialization, and daily living skills noted after 12 weeks (the end of a 4-week maintenance phase). We did not find any significant differences in improvements between lamotrigine or placebo groups on the Autism Behavior Checklist, the Aberrant Behavior Checklist, the Vineland Adaptive Behavior scales, the PL-ADOS, or the CARS. Parent rating scales showed marked improvements, presumably due to expectations of benefits.

Evidence for a deficit in procedural learning in children and adolescents with autism: implications for cerebellar contribution.

To examine the hypothesis that abnormalities in those cognitive functions for which cerebellar components have been implicated contribute to the pathophysiology of autism, tests of judgment of explicit time intervals and procedural learning were administered to 11 participants with autism and 17 age-and-IQ-matched controls. Results indicated that the group with autism demonstrated significant impairments in procedural learning compared with the group of controls. No significant difference in judgment of explicit time intervals was found. The data suggest that deficits in procedural learning may contribute to the cognitive and behavioral phenotype of autism; these deficits may be secondary to abnormalities in cerebellar-frontal circuitry.

Evidence of normal cerebellar control of the vestibulo-ocular reflex (VOR) in children with high-functioning autism.

The effect of "tilt-suppression" on post-rotatory vestibular nystagmus was investigated to assess the function of the caudal cerebellar vermis (lobules IX and X, or nodulus and uvula) in 13 school-age children with high-functioning autism (HFA) and 10 normal controls. Tilt-suppression of the vestibulo-ocular reflex (VOR) refers to the decreasing of the duration of post-rotatory vestibular nystagmus that occurs when the head is moved out of the plane in which it was located during the previous sustained constant-velocity rotation. The participant is rotated in a vestibular chair with the head upright and then the head is tilted forward just after the chair stops rotating. Such tilt-suppression is impaired with lesions of the cerebellar nodulus and portions of the uvula. Results show that children with HFA have normal post-rotatory nystasmus with the head upright and normal attenuation of post-rotatory nystagmus induced by head tilt. These behavioral findings suggest that lobules IX and X of the cerebellum are spared in high-functioning autism.

An autosomal genomic screen for autism. Collaborative linkage study of autism.

Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism is strongly genetic, and oligogenic transmission is likely. The first stage of a two-stage genomic screen for autism was carried out by the Collaborative Linkage Study of Autism on individuals affected with autism from 75 families ascertained through an affected sib-pair. The strongest multipoint results were for regions on chromosomes 13 and 7. The highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 (approximately 55 cM from the telomere) under the recessive model, with an estimated 35% of families linked to this locus. The next highest peak is an MMLS/het score of 2.3 at 19 cM, between D13S217 and D13S1229. Our third highest MMLS/het score of 2.2 is on chromosome 7 and is consistent with the International Molecular Genetic Study of Autism Consortium report of a possible susceptibility locus somewhere within 7q31-33. These regions and others will be followed up in the second stage of our study by typing additional markers in both the original and a second set of identically ascertained autism families, which are currently being collected. By comparing results across a number of studies, we expect to be able to narrow our search for autism susceptibility genes to a small number of genomic regions. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:609-615, 1999.

Predictors of cognitive test patterns in autism families.

In a case-control study of cognitive performance, tests of intelligence, reading, spelling, and pragmatic language were administered to the parents and siblings of 90 community-ascertained probands with autism (AU group) and to the parents and siblings of 40 similarly ascertained probands with trisomy 21 Down syndrome (DS group). The two samples were comparable for age and parents' education; both groups were well-educated and had above-average intelligence. AU parents scored slightly but significantly lower on the WAIS-R Full Scale and Performance IQ, on two subtests (Picture Arrangement and Picture Completion), and on the Word Attack Test (reading nonsense words) from the Woodcock-Johnson battery. There were no differences between AU and DS siblings. As in earlier studies, AU parents, more often than DS parents, reported a history of early language-related cognitive difficulties; we were not able to replicate this in siblings. AU parents who reported such difficulties scored significantly lower on Verbal IQ, spelling, and the nonsense reading test. AU parents without a history of early language-related cognitive difficulties often had a Verbal IQ that exceeded Performance IQ by more than one standard deviation. AU siblings with early language-related difficulties had similar findings: lower Verbal IQ, poorer spelling, and poorer reading scores, compared to AU siblings without such a history. Parents with a positive history also scored worse on a measure of pragmatic language,the Pragmatic Rating Scale, but not on measures of social-related components of the broader autism phenotype. We propose that cognitive differences in a subset of autism family members are manifestations of the language-related component of the broader autism phenotype, and separate from the social-related component. This is consistent with the hypothesis that there are several genes that may interact to cause autism which segregate independently and have distinguishable manifestations in family members. The hypothesis would be further supported by finding different patterns of genetic loci linked to autism in families where one or both parents has language difficulties.