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.

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.

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.

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.

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.

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.

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.

[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.

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.

Personality and language characteristics in parents from multiple-incidence autism families.

Several studies have suggested that the genetic liability for autism may be expressed in non-autistic relatives of autistic probands, in behavioral characteristics that are milder but qualitatively similar to the defining features of autism. We employ a variety of direct assessment approaches to examine both personality and language in parents ascertained through having two autistic children (multiple-incidence autism parents) and parents of Down syndrome probands. Multiple-incidence autism parents had higher rates of particular personality characteristics (rigidity, aloofness, hypersensitivity to criticism, and anxiousness), speech and pragmatic language deficits, and more limited friendships than parents in the comparison group. The implications of these findings for future genetic studies of autism are discussed.

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.

The prevalence of fragile X in a sample of autistic individuals diagnosed using a standardized interview.

The study examined 75 autistic individuals who met DSM-III-R criteria for autistic disorder at 5 years of age. Diagnosis was based on information elicited using a standardized interview for autism. Two of 75 (2.7%) autistic subjects expressed the fragile X marker (Xq27.3) in 40% of cells counted and had other affected family members. Two additional subjects expressed the fragile X anomaly at low rates (1%). These rates are compared with those reported in other studies. Methodological differences, which may underlie the varying rates reported across studies, are discussed.

Psychiatric disorders in the parents of autistic individuals.

Eighty-one parents of 42 autistic probands and 34 parents of 18 Down syndrome probands were examined using a semistructured, investigator-based version of the Schedule for Affective Disorders and Schizophrenia Lifetime Version to estimate the lifetime risk of psychiatric disorder. The lifetime prevalence rate of anxiety disorder was significantly greater in parents of autistic probands than in parents of Down syndrome probands. The lifetime prevalence rate of major depressive disorder, while not significantly different in cases and controls, may be high in the parents of autistic probands (27%) in comparison with populations rates.

The etiology of autism: pre-, peri- and neonatal factors.

OBJECTIVE: To examine pre-, peri-, and neonatal factors in autism using composite optimality scores. METHOD: Pre-, peri-, and neonatal composite optimality scores were examined in 39 autistic subjects and 39 randomly matched sibling controls using a modification of the Gillberg Optimality Scale (Modified-GOS). Scores were based on best-estimate ratings of maternal interviews and medical records. Rules for best-estimate ratings were derived from a study of agreement between these two sources. RESULTS: Significant differences in optimality between autistic probands and their siblings were not present after adjustment for "maternal parity." Examination of specific variables revealed that only maternal parity differed significantly between autistic subjects and randomly matched sibling controls, reflecting an excess of first and fourth born among the autistic subjects. CONCLUSION: The findings of this study suggest that previous reports of an association between optimality and autism are a result of failure to adjust for birth order.

A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals.

The family history method was used to obtain developmental, social, and psychiatric histories on the 67 adult siblings of 37 autistic probands. Two of 67 siblings (3.0%) were autistic, three siblings (4.4%) had severe social dysfunction and isolation, 10 (15%) had cognitive disorders, and 10 (15%) had received treatment for affective disorder. This study is the first to investigate the frequency of disorders in the adult siblings of autistic probands. These results suggest aggregation of a variety of neuropsychiatric disorders in the siblings of autistic individuals.

Macrocephaly in children and adults with autism.

OBJECTIVE: To explore the frequency and onset of macrocephaly in autism and its relationship to clinical features. METHOD: Head circumferences at birth, during early childhood, and at the time of examination were studied in a community-based sample of autistic children and adults. The authors investigated whether head circumference at the time of examination was associated with clinical features. RESULTS: Fourteen percent of the autistic subjects had macrocephaly: 11% of males and 24% of females. In most, the macrocephaly was not present at birth; in some it became apparent in early and middle childhood as a result of increased rate of head growth. A small relationship was noted between head circumference percentile and less severe core features of autism. Neither macrocephaly nor head circumference percentile was associated with nonverbal IQ, verbal status, seizure disorder, neurological soft signs or minor physical anomalies in the autistic subjects. CONCLUSION: Macrocephaly is common in autism and usually is not present at birth. Rates of head growth may be abnormal in early and middle childhood in some (37%) children with autism. Macrocephaly does not define a homogeneous subgroup of autistic individuals according to clinical features.

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.