receptor antibodies
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2022 ◽  
Vol 11 (1) ◽  
Christiaan F Mooij ◽  
Timothy D Cheetham ◽  
Frederik A Verburg ◽  
Anja Eckstein ◽  
Simon H Pearce ◽  

Hyperthyroidism caused by Graves’ disease (GD) is a relatively rare disease in children. Treatment options are the same as in adults – antithyroid drugs (ATD), radioactive iodine (RAI) or thyroid surgery, but the risks and benefits of each modality are different. The European Thyroid Association guideline provides new recommendations for the management of pediatric GD with and without orbitopathy. Clinicians should be alert that GD may present with behavioral changes or declining academic performance in children. Measurement of serum TSH receptor antibodies is recommended for all pediatric patients with hyperthyroidism. Management recommendations include the first-line use of a prolonged course of methimazole/carbimazole ATD treatment (3 years or more), a preference for dose titration instead of block and replace ATD, and to avoid propylthiouracil use. Where definitive treatment is required either total thyroidectomy or RAI is recommended, aiming for complete thyroid ablation with a personalized RAI activity. We recommend avoiding RAI in children under 10 years of age but favor surgery in patients with large goiter. Pediatric endocrinologists should be involved in all cases.

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Hassam Ali ◽  
Rahul Pamarthy ◽  
Nayab Ahsan ◽  
WashmaAwan ◽  
Shiza Sarfraz

Myasthenia gravis is a neuromuscular autoimmune disease that results in skeletal muscle weakness that worsens after periods of activity and improves after rest. Myasthenia gravis means “grave (serious), muscle weakness.” Although not completely curable, it can be managed well with a relatively high quality of life and expectancy. In myasthenia gravis, antibodies against the acetylcholine receptors at the neuromuscular junction interfere with regular muscular contraction. Although most commonly caused by antibodies to the acetylcholine receptor, antibodies against MuSK (muscle-specific kinase) protein can also weaken transmission at the neuromuscular junction. Muscle-specific tyrosine kinase myasthenia gravis (MuSK-Ab MG) is a rare subtype of myasthenia gravis with distinct pathogenesis and unique clinical features. Diagnosis can be challenging due to its atypical presentation as compared to seropositive myasthenia gravis. It responds inconsistently to steroids, but plasma exchange and immunosuppressive therapies have shown promising results. We report a case of a 49-year-old female who presented with acute hypoxic respiratory failure. Our patient experienced progressive, undiagnosed MuSK-Ab MG for years without a diagnosis.

Medicina ◽  
2021 ◽  
Vol 57 (12) ◽  
pp. 1333
Or Hen ◽  
Paula David ◽  
Yehuda Shoenfeld

Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA; Shoenfeld’s syndrome) comprehends a group of autoimmune conditions that flourish in genetically predisposed individuals, following an external stimulus by the so-called adjuvants. Many adjuvants were described, such as vaccines, aluminum and other metals, silicone, tattoos, among others. Those conditions entail defined diseases, such as sarcoidosis and Sjogren’s syndrome, and generalized complex symptoms, for example, fatigue, sleep disturbance, orthostatic intolerance, and other dysautonomic manifestations. Those complaints were previously associated with autoantibodies against nervous system autonomic receptors, especially antibeta 1 adrenergic receptor antibodies, suggesting the autoimmune component of the condition. Here we report on a case of an 18-year-old woman who presented with extreme cachexia due to severe dysautonomia caused by the ASIA syndrome induced by the tetanus, diphtheria, and pertussis vaccine (Tdap).

2021 ◽  
Jennifer H. Li ◽  
Sarah S. Milla ◽  
Grace Y. Gombolay

Abstract Background The rate of anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) in ovarian teratomas is unknown. We aim to identify the prevalence of NMDARE as well as volumetric and histopathologic characteristics of ovarian teratomas in patients with versus without. Methods We performed a retrospective cohort study to identify patients with confirmed ovarian teratomas and the characteristics of teratomas in NMDARE compared with non-NMDARE patients. Patients aged between 0 and 21 years with confirmed histopathological diagnosis of ovarian teratoma after resection were included. The rate of NMDARE in ovarian teratomas was identified. Moreover, volumes of ovarian teratomas and the frequency of neuronal glial elements on histopathology in NMDARE versus non-NMDARE patients were assessed. Results Five out of one-hundred-and-sixty-three (3.07%) patients with histopathology confirmed ovarian teratomas were diagnosed with NMDARE. Age was not different between the NMDARE (mean: 13.8 years, standard deviation: 3.9) and non-NMDARE groups (median: 14, interquartile range [IQR]: 5). Teratoma volumes from NMDARE patients were smaller than those of non-NMDARE patients (median 28.3 cm3 with IQR of 431.2 and median 182.8 with IQR of 635.0, respectively). Both age and NMDARE diagnosis were statistically significant variables in the analysis of variance on a multiple linear regression model. Age (p = 0.013) had a positive correlation with teratoma size, whereas presence of NMDARE had a negative correlation (p = 0.008). Conclusion The rate of NMDARE in ovarian teratomas is low and NMDARE patients have smaller teratomas than non-NMDARE. Further studies are needed to understand the timing of anti-NMDA receptor antibodies in teratomas and the development of NMDARE.

Mediastinum ◽  
2021 ◽  
Vol 5 ◽  
pp. AB019-AB019
Tibor Krajc ◽  
Michal Benej ◽  
Patricia Marta ◽  
Ludmila Zahlbruckner ◽  
Leyla Ay ◽  

Medicina ◽  
2021 ◽  
Vol 57 (11) ◽  
pp. 1277
Brîndușa Ana Cimpoca-Raptis ◽  
Anca Marina Ciobanu ◽  
Nicolae Gica ◽  
Gheorghe Peltecu ◽  
Dan Mitrea ◽  

Myasthenia gravis (MG) is an autoimmune condition, that commonly impacts adult women of reproductive age. Myasthenia gravis in pregnancy is rare, but the incidence is higher in different geographical areas. Pregnancies in mothers with MG can have an unfortunate outcome. Acetylcholine receptor antibodies may pass into the fetal circulation and can affect the fetal neuromuscular junction, generating transient MG or even fetal arthrogryposis. The 2016 and 2021 International Consensus Guidance for Management of Myasthenia Gravis issued by Myasthenia Gravis Foundation of America is lacking in recommendation for fetal surveillance for pregnancies in women with MG. The aim of this paper is to highlight fetal and neonatal complications in mothers with MG and to offer antenatal care insights. Close maternal and pregnancy monitoring can improve pregnancy outcome. Patients with MG should be encouraged to conceive, to avoid triggers for exacerbations of the disease during pregnancy and a multidisciplinary team should be established to ensure the optimal support and therapy.

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