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Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of progeria

International Journal of Clinical Medicine 2014年第20期5卷 1269-1276页

作者： Monem Makki Alshok Department of Medicine College of Medicine University of Babylon Babylon Iraq

Ammar A., a 23-year-old male patient, who lives in Babylon, Haswa District, and his mother describes symptoms of growth retardation, skin changes, hair changes early graying and alopecia. These manifestation started early during his childhood period. There is canseguanity between the patient’s mother & father also one of the patient’s sister has similar illness and one male brother died few months following his birth. We admit the patient to hospital due acute pulmonary infection in Jan 2009, which is controlled after a course of antibiotic and after 5 months he develops generalised mucocuteneous bullous eruption which shows partial response to oral prednisolone 2 mg/Kg. The patient has normal IQ and he is in the secondary school and he has normal blood picture and the only abnormal biochemical abnormalities is mild hyperlipidemia Serum cholestrol of 5.8 mmol/L and Serum Triglyceride of 260 mg/dl. Ammar’s Sister Qawthar A., who has a similar phenotypic manifestations, presented skin vitiligo and hepatosplenomegaly associated with sever anemia and jaundice and her presentation suggestive of autoimmune haemolytic anemia improved following blood transfusion, corticosteroid and azothioprim. In February 2014 Ammer presented with multiple and diffuse cuteneous ecchymymosis with markedly prolonged PTT and slightly proloned bleeding time highly consistent with acquired Von Willebrand’s disease. In conclusion premature aging is a predisposing factor for disturbed immunity and development of autoimmune diseases.

关键词： progeria Autoimmune Diseases Pemphigus Autoimmune Hemolytic Anemia Acquired Von Willebrand Disease

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Chemical screen identifies a geroprotective role of quercetin in premature aging

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Protein & Cell 2019年第6期10卷 417-435页

作者： Lingling Geng Zunpeng Liu Weiqi Zhang Wei Li Zeming Wu Wei Wang Ruotong Ren Yao Su Peichang Wang Liang Sun Zhenyu Ju Piu Chan Moshi Song Jing Qu Guang-Hui Liu Advaneed Innovation Center for Human Brain Protection National Clinical Research Center for Geriatric Disorders Xuanwu Hospital of Capital Medical University Beijing 100053 China National Laboratory of Biomacromolecules CAS Center for Excellenee in Biomacromolecules Institute of Biophysics Chinese Academy of Sciences Beijing 100101 China State Key Laboratory of Stem Cell and Reproductive Biology Institute of Zoology Chinese Academy of Sciences Beijing 100101 China State Key Laboratory of Membrane Biology Institute of Zoology Chinese Academy of Sciences Beijing 100101 China University of Chinese Academy of Sciences Beijing 100049 China Institute of Stem cell and Regeneration Chinese Academy of Sciences Beijing 100101 China Key Laboratory of Regenerative Medicine of Ministry of Education Institute of Aging and Regenerative Medicine Jinan University Guangzhou 510632 China The MOH Key Laboratory of Geriatrics Beijing Hospital National Center of Gerontology Beijing 100730 China

Aging increases the risk of various diseases. The main goal of aging research is to find therapies that attenuate aging and alleviate aging-related diseases. In this study, we screened a natural product library for geroprotective compounds using Werner syndrome (WS) human mesenchymal stem cells (hMSCs), a premature aging model that we recently established. Ten candidate compounds were identified and quercetin was investigated in detail due to its leading effects. Mechanistic studies revealed that quercetin alleviated senescence via the enhancement of cell proliferation and restoration of heterochromatin architecture in WS hMSCs. RNA-sequencing analysis revealed the transcriptional commonalities and differences in the geroprotective effects by quercetin and Vitamin C. Besides WS hMSCs, quercetin also attenuated cellular senescence in Hutchinson-Gilford progeria syndrome (HGPS) and physiological-aging hMSCs. Taken together, our study identifies quercetin as a geroprotective agent against accelerated and natural aging in hMSCs, providing a potential therapeutic intervention for treating age-associated disorders.

关键词： Quercetin Stem cell Aging Werner syndrome Hutchinson-Gilford progeria syndrome

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Rheumatic Mineralization of Aortic Valve and Anterior Mitral Leaflet—A Case Report

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Case Reports in Clinical Medicine 2017年第4期6卷 95-119页

作者： Ramachandran Muthiah Thoothukudi Medical College Hospital Thoothukudi India

Aim: To present the heterotopic ossification of left-sided heart valves due to rheumatic inflammation and biomineralization. Introduction: Calcification in the region of mitral-aortic continuity is significant at its origin and etiopathogenesis. The etiology of valvular calcification may be divided into 3 groups, namely, inflammation, degeneration and metabolic disturbances. Calcification of cardiac valve leaflets is most often due to rheumatic etiology in tropical nations. Case Report: A 52-year-old male developed sudden onset of light-headedness and palpitations due to atrial fibrillation. Transthoracic 2D echocardiography revealed calcification of anterior mitral leaflet and aortic valve which resembles a bone-like structure and the patient was advised double valve replacement. Conclusion: It was known that the cellular mechanisms play an important role in its genesis and therapeutic strategies are targeted to reverse this process by understanding its biological mediators.

关键词： Rheumatic Mineralization Mitral-Aortic “J-Shaped” Calcification “Mushroom Shaped” Calcified Bicuspid Aortic Valve Hutchinson-Gilford progeria Syndrome Therapeutic Strategies

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