scholarly journals Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Jonathan D. Santoro ◽  
Sarah Lee ◽  
Anthony C. Wang ◽  
Eugenia Ho ◽  
Deepti Nagesh ◽  
...  

Objective: To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya disease given the high rates of autoimmune disease reported in both conditions and unknown etiology of angiopathy in this population.Methods: A multi-center retrospective case-control study of children with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome without cerebrovascular disease was performed. Outcome measures included presence of autoimmune disease, presence of autoantibodies and angiopathy severity data. Comparisons across groups was performed using the Kruskal-Wallis, χ2 and multivariate Poisson regression.Results: The prevalence of autoimmune disease were 57.7, 20.3, and 35.3% in persons with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome only groups, respectively (p < 0.001). The prevalence of autoimmune disease among children with Down syndrome and moyamoya syndrome is 3.2 times (p < 0.001, 95% CI: 1.82–5.58) higher than the idiopathic moyamoya group and 1.5 times (p = 0.002, 95% CI: 1.17–1.99) higher than the Down syndrome only group when adjusting for age and sex. The most common autoimmune diseases were thyroid disorders, type I diabetes and Celiac disease. No individuals with idiopathic moyamoya disease had more than one type of autoimmune disorder while 15.4% of individuals with Down syndrome and moyamoya syndrome and 4.8% of individuals with Down syndrome only had >1 disorder (p = 0.05, 95%CI: 1.08–6.08).Interpretation: This study reports elevated rates of autoimmune disease in persons with Down syndrome and moyamoya syndrome providing a nidus for study of the role of autoimmunity in angiopathy in this population.

2011 ◽  
Vol 129 (2) ◽  
pp. 110-112 ◽  
Author(s):  
Luiz Guilherme Darrigo Júnior ◽  
Elvis Terci Valera ◽  
André de Aboim Machado ◽  
Antonio Carlos dos Santos ◽  
Carlos Alberto Scrideli ◽  
...  

CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.


Author(s):  
Mansour Arab ◽  
Maryam Razzaghy-azar ◽  
Zahra Salehi ◽  
Maryam Keshavarz ◽  
Ensieh Nasli-Esfahani ◽  
...  

Type 1 diabetes (T1D) is an autoimmune disease resulting from the damage of pancreatic


1982 ◽  
Vol 3 (9) ◽  
pp. 225-226 ◽  
Author(s):  
Hubert Kolb

2001 ◽  
Vol 8 (4) ◽  
pp. 678-685 ◽  
Author(s):  
Vijay Kumar ◽  
Manoj Rajadhyaksha ◽  
Jacobo Wortsman

ABSTRACT Celiac disease (CD) is an autoimmune disorder induced by gluten intake in genetically susceptible individuals. It is characterized by the presence of serum antibodies to endomysium, reticulin, gliadin, and tissue transglutaminase. The incidence of CD in various autoimmune disorders is increased 10- to 30-fold in comparison to the general population, although in many cases CD is clinically asymptomatic or silent. The identification of such cases with CD is important since it may help in the control of type I diabetes or endocrine functions in general, as well as in the prevention of long-term complications of CD, such as lymphoma. It is believed that CD may predispose an individual to other autoimmune disorders such as type I diabetes, autoimmune thyroid, and other endocrine diseases and that gluten may be a possible trigger. The onset of type I diabetes at an early age in patients with CD, compared to non-CD, and the prevention or delay in onset of diabetes by gluten-free diet in genetically predisposed individuals substantiates this antigen trigger hypothesis. Early identification of CD patients in highly susceptible population may result in the treatment of subclinical CD and improved control of associated disorders.


2021 ◽  
Vol 15 (5) ◽  
pp. 1501-1503
Author(s):  
K. Sheikh ◽  
Gulshad . ◽  
S. S. A. Naqvi ◽  
I. Wagan ◽  
A. Maher ◽  
...  

Objective: To determine the adverse effects of formula milk in infants presented to our institution. Study Design: Retrospective/observational Place and Duration:The study was conducted at Paediatric Department of Liaquat University Medical Hospital Jamshoro and Civil Hospital Khairpur Mir's. Methodology: Total 85 formula-fed infants of both genders with ages upto 2 years were included in this study. Detailed demographics including age, sex, weight, residence and socio-economic status were recorded after taking informed written consent from guardians/parents. Adverse effects such as iron deficiency, low weight, gastroenteritis, type I diabetes mellitus and autoimmune disease were examined. Data was analyzed by SPSS 24.0. Results: There were 45 (52.94%) females whiles 40 (47.06%) were males. Mean age was 1.86±1.02 years. 52 (61.18%) patients had urban residence and majority 50 (58.82%) had high socio-economic status. Iron deficiency was found in 38 (44.71%) infants, 32 (37.65%) infants had abnormal low weight, 24 (28.24%) had gastroenteritis/diarrhea, 18 (21.18%) infants had type I diabetes and 14 (16.47%) infants had autoimmune disease. Conclusion: It is concluded that formula milk was associated with many of adverse effects, the most common was iron deficiency and low weight. Mothers should be aware of these adverse effects of formula fed. Keywords: Formula Milk, Infants, Iron Deficiency, Low Weight, Infection, Type I Diabetes


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