scholarly journals A.02 Clinical clues for autoimmunity in the etiology of autistic regression

2016 ◽  
Vol 43 (S2) ◽  
pp. S7-S7
Author(s):  
H Goez ◽  
O Scott ◽  
D Shi ◽  
D Andriashek ◽  
B Clark
Keyword(s):  
Autoimmune Thyroiditis ◽  
Febrile Illness ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Type I ◽  
Perinatal Complications ◽  
Autoimmune Conditions ◽  
History Of ◽  
Autistic Regression ◽  
Immune Changes

Background: Autistic regression (AR) accounts for 20-40% of patients with Autism Spectrum Disorder (ASD) .1 Literature demonstrates specific immune changes in AR patients,2 as well as association between AR and autoimmune thyroiditis.3 Our study explores the clinical association between AR and autoimmunity, focusing on possible precipitants and familial autoimmunity, in comparison with patients with infantile autism (IA). Methods: charts of children diagnosed with ASD in 2014 were reviewed, and patients were classified as either AR or IA based on Autism Diagnostic Interview (ADI-R) criteria.4 Information regarding pregnancy, perinatal complications, febrile illness preceding the diagnosis, and family history of autoimmune conditions was collected. Results: 206 children had IA and 33 had AR. No difference was found in prevalence of pregnancy or perinatal complications. The incidence of febrile illness in the 6 months prior to diagnosis and the prevalence of familial autoimmunity, were significantly higher in the AR group (p<0.001). Diabetes type I, celiac disease, autoimmune thyroiditis, and inflammatory bowel disease were more common in families of AR patients (p<0.05). Conclusions: the association between AR and preceding febrile illness, as well as familial autoimmunity, supports the notion of AR as a separate entity within ASD, possibly mediated by autoimmune changes.

Protective Factors and Suicidality in Members of Arab Kindred

Crisis ◽  
2012 ◽  
Vol 33 (2) ◽  
pp. 80-86 ◽  
Author(s):  
Sami Hamdan ◽  
Nadine Melhem ◽  
Israel Orbach ◽  
Ilana Farbstein ◽  
Mohammad El-Haib ◽  
...  
Keyword(s):  
Risk Factors ◽  
Protective Factors ◽  
Suicidal Behavior ◽  
Composite International Diagnostic Interview ◽  
Diagnostic Interview ◽  
Suicidal Risk ◽  
Arab Population ◽  
Psychiatric Interview ◽  
History Of

Background: Relatively little is known about the role of protective factors in an Arab population in the presence of suicidal risk factors. Aims: To examine the role of protective factors in a subsample of in large Arab Kindred participants in the presence of suicidal risk factors. Methods: We assessed protective and risk factors in a sample of 64 participants (16 suicidal and 48 nonsuicidal) between 15 and 55 years of age, using a comprehensive structured psychiatric interview, the Composite International Diagnostic Interview (CIDI), self-reported depression, anxiety, hopelessness, impulsivity, hostility, and suicidal behavior in first-degree and second-relatives. We also used the Religiosity Questionnaire and suicide attitude (SUIATT) and multidimensional perceived support scale. Results: Suicidal as opposed to nonsuicidal participants were more likely to have a lifetime history of major depressive disorder (MDD) (68.8% vs. 22.9% χ2 = 11.17, p = .001), an anxiety disorder (87.5% vs. 22.9, χ2 = 21.02, p < .001), or posttraumatic stress disorder (PTSD) (25% vs. 0.0%, Fisher’s, p = .003). Individuals who are otherwise at high risk for suicidality have a much lower risk when they experience higher perceived social support (3.31 ± 1.36 vs. 4.96 ± 1.40, t = 4.10, df = 62, p < .001), and they have the view that suicide is somehow unacceptable (1.83 ± .10 vs. 1.89 ± .07, t = 2.76, df = 60, p = .008). Conclusions: Taken together with other studies, these data suggest that the augmentation of protective factors could play a very important role in the prevention of incidental and recurrent suicidal behavior in Arab populations, where suicidal behavior in increasing rapidly.

CARDIOVASCULAR RISK FACTORS PECULIARITIES IN MEN UNDER 60 YEARS OLD WITH MYOCARDIAL INFARCTION AND CHRONIC INFLAMMATORY LUNG DISEASES

2020 ◽  
pp. 21-25
Author(s):  
Tupitsyn V.V. ◽  
Bataev Kh.M. ◽  
Men’shikova A.N. ◽  
Godina Z.N.
Keyword(s):  
Risk Factors ◽  
Myocardial Infarction ◽  
Heart Disease ◽  
Cardiovascular Risk ◽  
Digestive System ◽  
Control Group ◽  
Study Group ◽  
Type I ◽  
Internal Organs ◽  
History Of

Relevance. Information about the cardiovascular diseases risk factors (CVD RF) for in men with chronic lung inflam-matory pathology (CLID) is contradictory and requires clarification. Aim. To evaluate the peculiarities of CVD RF in men under 60 years of age with CLID in myocardial infarction (MI) to improve prevention. Material and methods. The study included men aged 19-60 years old with type I myocardial infarction. Patients are divided into two age-comparable groups: I - the study group, with CLID - 142 patients; II - control, without it - 424 patients. A comparative analysis of the frequency of observation of the main and additional cardiovascular risk fac-tors in groups was performed. Results. In patients of the study group, more often than in the control group we observed: hereditary burden of is-chemic heart disease (40.8 and 31.6%, respectively; p = 0.0461) and arterial hypertension (54.2 and 44.6%; p = 0.0461), frequent colds (24.6 and 12.0%; p = 0.0003), a history of extrasystoles (19.7 and 12.7%; p = 0.04); chronic foci of infections of internal organs (75.4 and 29.5%; p˂0.0001), non-ulcer lesions of the digestive system (26.1 and 14.6%; p = 0.007), smoking (95.1 and 66.3%; p˂0.0001), MI in winter (40.8 and 25.9%; p = 0.006). Less commonly were observed: oral cavity infections (9.2 and 23.6%; p˂0.0001); hypodynamia (74.5 and 82.5%; p = 0.0358), over-weight (44.4 and 55.2%; p = 0.0136), a subjective relationship between the worsening of the course of coronary heart disease and the season of the year (43.7 and 55.2%; p = 0.0173) and MI - in the autumn (14.1 and 21.9%; p = 0.006) period. Conclusions. The structure of CVD RF in men under 60 years of age with CLID with MI is characterized by the pre-dominance of smoking, non-ulcer pathology of the digestive system, frequent pro-student diseases, meteorological dependence, a history of cardiac arrhythmias and foci of internal organ infections. It is advisable to use the listed factors when planning preventive measures in such patients.

scholarly journals Natural History of Viral Markers in Children Infected with Human T Lymphotropic Virus Type I in Jamaica

2006 ◽  
Vol 194 (5) ◽  
pp. 552-560 ◽  
Author(s):  
Elizabeth Margaret Maloney ◽  
Yoshihisa Yamano ◽  
Paul C. VanVeldhuisen ◽  
Takashi Sawada ◽  
Norma Kim ◽  
...  
Keyword(s):  
Natural History ◽  
Virus Type ◽  
Type I ◽  
T Lymphotropic Virus ◽  
History Of

scholarly journals Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Jannath Begum-Ali ◽  
◽  
Anna Kolesnik-Taylor ◽  
Isabel Quiroz ◽  
Luke Mason ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Auditory Processing ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Type I ◽  
Sensory Reactivity ◽  
Auditory Responses ◽  
Repetition Suppression ◽  
Age Related

Abstract Background Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms. Positing a causal role for sensory processing differences requires observing atypical sensory reactivity prior to the emergence of other symptoms, which can be achieved through prospective studies. Methods In this longitudinal study, we examined auditory repetition suppression and change detection at 5 and 10 months in infants with and without Neurofibromatosis Type 1 (NF1), a condition associated with higher likelihood of developing ASD. Results In typically developing infants, suppression to vowel repetition and enhanced responses to vowel/pitch change decreased with age over posterior regions, becoming more frontally specific; age-related change was diminished in the NF1 group. Whilst both groups detected changes in vowel and pitch, the NF1 group were largely slower to show a differentiated neural response. Auditory responses did not relate to later language, but were related to later ASD traits. Conclusions These findings represent the first demonstration of atypical brain responses to sounds in infants with NF1 and suggest they may relate to the likelihood of later ASD.

Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Linlin Huang ◽  
Ting Shi ◽  
Ying Li ◽  
Xiaozhong Li
Keyword(s):  
Acute Kidney Injury ◽  
Case Report ◽  
Frameshift Mutation ◽  
Novel Mutation ◽  
Kidney Injury ◽  
Febrile Illness ◽  
Type I ◽  
Continuous Venovenous Hemodiafiltration ◽  
Glutaric Acidemia Type I ◽  
Acute Decompensation

This is a case report of a girl with glutaric acidemia type I (GA-I) who experienced rhabdomyolysis and acute kidney injury (AKI). Her first acute metabolic crisis occurred at the age of 5 months, which mainly manifested as irritable crying, poor appetite, and hyperlactatemia. Mutation analysis showed 2 pathogenic mutations in the glutaryl-CoA dehydrogenase (GCDH) gene, which were c.383G&#x3e;A (p.R128Q) and c.873delC (p.N291Kfs*41), the latter of which is a novel frameshift mutation of GA-I. She had a febrile illness at the age of 12 months, followed by AKI and severe rhabdomyolysis. Four days of continuous venovenous hemodiafiltration (CVVHDF) helped to overcome this acute decompensation. This case report describes a novel mutation in the GCDH gene, that is, c.873delC (p.N291Kfs*41). Also, it highlights the fact that patients with GA-I have a high risk of rhabdomyolysis and AKI, which may be induced by febrile diseases and hyperosmotic dehydration; CVVHDF can help to overcome this acute decompensation.

scholarly journals CNS demyelination associated with immune dysregulation and a novel CTLA-4 variant

2021 ◽  
pp. 135245852096389
Author(s):  
Stefania Kaninia ◽  
Alexandros Grammatikos ◽  
Kathryn Urankar ◽  
Shelley A Renowden ◽  
Nikunj K Patel ◽  
...  
Keyword(s):  
T Cell Activation ◽  
Cell Activation ◽  
Cytotoxic T Lymphocyte ◽  
Checkpoint Inhibitors ◽  
Novel Treatments ◽  
First Case ◽  
Self Tolerance ◽  
Autoimmune Conditions ◽  
History Of ◽  
Cns Demyelination

Background: The cytotoxic T-lymphocyte antigen-4 (CTLA-4) pathway acts as a negative immune regulator of T-cell activation and promotes self-tolerance. Case: We report the first case of biopsy-proven central nervous system inflammatory demyelination in the context of primary immunodeficiency and a novel CTLA-4 variant. Conclusion: This case has significant implications for the development of novel treatments for autoimmune conditions including multiple sclerosis and further emphasises the need for caution with clinical use of CTLA-4 immune checkpoint inhibitors in those with a history of inflammatory demyelination.

Co-occurring trajectories of anxiety and insistence on sameness behaviour in autism spectrum disorder

2020 ◽  
Vol 218 (1) ◽  
pp. 20-27
Author(s):  
Danielle A. Baribeau ◽  
Simone Vigod ◽  
Eleanor Pullenayegum ◽  
Connor M. Kerns ◽  
Pat Mirenda ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Middle Childhood ◽  
Child Behavior Checklist ◽  
Childhood Anxiety ◽  
Parent Report ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Anxiety Symptoms ◽  
Spectrum Disorder ◽  
Insistence On Sameness

BackgroundChildren with autism spectrum disorder (ASD) have increased susceptibility to anxiety disorders. Variation in a common ASD symptom, insistence on sameness behaviour, may predict future anxiety symptoms.AimsTo describe the joint heterogeneous longitudinal trajectories of insistence on sameness and anxiety in children with ASD and to characterise subgroups at higher risk for anxiety.MethodIn a longitudinal ASD cohort (n = 421), insistence on sameness behaviour was measured using the Autism Diagnostic Interview-Revised at approximately ages 3, 6 and 11 years. Anxiety was quantified at 8 time points between ages 3 and 11 years using the Child Behavior Checklist (CBCL) (parent report). Clusters of participants following similar trajectories were identified using group-based and joint trajectory modelling.ResultsThree insistence on sameness trajectories were identified: (a) ‘low-stable’ (41.7% of participants), (b) ‘moderate-increasing’ (52.0%) and (c) ‘high-peaking’ (i.e. increasing then stabilising/decreasing behaviour) (6.3%). Four anxiety trajectories were identified: (a) ‘low-increasing’ (51.0%), (b) ‘moderate-decreasing’ (16.2%), (c) ‘moderate-increasing’ (19.6%) and (d) ‘high-stable’ (13.1%). Of those assigned to the ‘high-peaking’ insistence on sameness trajectory, 95% jointly followed an anxiety trajectory that surpassed the threshold for clinical concern (T-score >65) by middle childhood (anxiety trajectories 3 or 4). Insistence on sameness and anxiety trajectories were similar in severity and direction for 64% of the sample; for 36%, incongruous patterns were seen (e.g. decreasing anxiety and increasing insistence on sameness).ConclusionsThe concurrent assessment of insistence on sameness behaviour and anxiety in ASD may help in understanding current symptom profiles and anticipating future trajectories. High preschool insistence on sameness in particular may be associated with elevated current or future anxiety symptoms.

The Natural History of Cerebral Dural Arteriovenous Fistulae

Neurosurgery ◽  
2012 ◽  
Vol 71 (3) ◽  
pp. 594-603 ◽  
Author(s):  
Bradley A. Gross ◽  
Rose Du
Keyword(s):  
Natural History ◽  
Significant Risk ◽  
Venous Drainage ◽  
Type I ◽  
Type Ii ◽  
Arteriovenous Fistulae ◽  
Type Iii ◽  
History Of ◽  
Venous Ectasia ◽  
Cortical Venous Drainage

Abstract BACKGROUND: Hemorrhage from cerebral dural arteriovenous fistulae (dAVF) is a considerable source of neurological morbidity and even mortality. OBJECTIVE: To evaluate the natural history of cerebral dAVF. METHODS: We reviewed our own cohort of 70 dAVF and incorporated results from the literature, synthesizing pooled hemorrhage rates and evaluating risk factors for 395 dAVF in 6 studies. RESULTS: No hemorrhages occurred during 409 lesion-years of follow-up of Borden type I dAVF; however, cortical venous drainage developed in 1.4%. Like type I dAVF, type II dAVF demonstrated a female predilection and were most commonly transverse-sigmoid or cavernous. Eighteen percent of type II dAVF presented with hemorrhage (95% confidence interval [CI]: 8%-36%), and the annual hemorrhage rate was 6% (95% CI: 0.1%-19%). Borden type III dAVF demonstrated a male predilection and were most commonly tentorial or petrosal. Thirty-four percent presented with hemorrhage (95% CI: 0.4%-49%), with an annual hemorrhage rate of 10% (95% CI: 4%-20%), increasing to 21% for those with venous ectasia (95% CI: 4%-66%). The hemorrhage rate decreased to 2% for asymptomatic or minimally symptomatic type II or III dAVF (95% CI: 0.2%-8%), and increased to 10% for those presenting with nonhemorrhagic neurological deficits (95% CI: 0.9%-41%) and to 46% for those presenting with hemorrhage (95% CI: 11%-130%). CONCLUSION: Venous ectasia is a significant risk factor for hemorrhage among dAVF with cortical venous drainage. In addition, those with hemorrhagic presentation, even compared with nonhemorrhagic neurological deficit presentation, as well as Borden type III dAVF compared with type II dAVF demonstrated a trend toward greater hemorrhage rates.

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