Systemic sclerosis (scleroderma, SSc) is an incurable autoimmune disease with high morbidity and mortality rates. Here, we conducted a population-scale single-cell genomic analysis of skin and blood samples of 56 healthy controls and 97 SSc patients at different stages of the disease. We found immune compartment dysfunction only in a specific subtype of diffuse SSc patients but global dysregulation of the stromal compartment, particularly in a previously undefined subset of LGR5-scleroderma-associated fibroblasts (ScAFs).
View Article and Find Full Text PDFSystemic lupus erythematosus most often targets organs such as joints, serosa, skin, bone marrow, and the kidneys. Gastrointestinal complications are uncommon, and among these, protein losing enteropathy is particularly rare. We present a young woman who suffered from chronic abdominal pain and diarrhea, developed severe malnutrition, and was eventually diagnosed with systemic lupus erythematosus and associated protein losing enteropathy.
View Article and Find Full Text PDFBackground: EBV associated hemophagocytic syndrome (HPS) is an aggressive and potentially life-threatening condition. So far, most EBV associated HPS has been characterized mainly in infants and children in Asian countries.
Results: Here, we report six cases of EBV associated HPS occurring in previously healthy adults in a non-endemic area within a short period of 3 years.
Different types of rapid tapping responses were described in the finger-tapping test. The "Hastening phenomenon" was described as an abnormal motor response in patients with Parkinson's disease. Accelerated tapping has been shown in a healthy elderly sample.
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