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《European journal of medical genetics》2020,63(2):103645
Danon disease is characterized by hypertrophic cardiomyopathy, skeletal myopathy, and intellectual disability due to deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Although heart transplantation is considered an option for end stage Danon cardiomyopathy, scarce information is available about long term follow up. We report on long term follow up (14.7 years, IQ range 9–21 years) of 4 patients, transplanted for Danon disease cardiomyopathy, showing two LAMP-2 gene variants, the novel c.815T > C and the previously reported c.294G > A. We have also analysed previous published paper on this topic comparing available data from different follow up. Being a skeletal and cardiac muscle disease, with systemic effects, long term results about HTx are indispensable to justify any treatments in this subset of patients. 相似文献
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《European journal of medical genetics》2020,63(8):103953
Atypical haemolytic uraemic syndrome and steroid-resistant nephrotic syndrome are highly rare kidney diseases that can occur in childhood. In some cases, genetic variants may trigger these conditions, although in atypical haemolytic uraemic syndrome they mostly confer only a predisposition to the disease. Most variants causing atypical haemolytic uraemic syndrome were identified in genes encoding proteins regulating the complement pathway; on the other hand, there are approximately 58 genes encoding distinct proteins primarily causing steroid-resistant nephrotic syndrome. We present a child with steroid-resistant nephrotic syndrome and a confirmed homozygous c.966G > A, p.Trp322Ter pathogenic variant in DGKE. This variant was also found in compound with a novel DGKE heterozygous deletion c.171delG, p.Ser58Alafs*111 in a patient from our paediatric cohort with atypical haemolytic uraemic syndrome. Both cases presented with hypertension, nephrotic proteinuria and severe acute kidney injury followed by renal recovery; however, their renal histology was different. In this paper, we deal with the clinical course of children with disrupted DGKE, including the steroid-resistant nephrotic syndrome and atypical haemolytic uraemic syndrome overlap. 相似文献
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Pascal Haimerl Ulrike Bernhardt Sonja Schindela Fiona D.R. Henkel Antonie Lechner Ulrich M. Zissler Xavier Pastor Dominique Thomas Alexander Cecil Yan Ge Mark Haid Cornelia Prehn Janina Tokarz Matthias Heinig Jerzy Adamski Carsten B. Schmidt-Weber Adam M. Chaker Julia Esser-von Bieren 《The Journal of allergy and clinical immunology》2021,147(2):587-599
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James W. Verbsky Mary K. Hintermeyer Pippa M. Simpson Mingen Feng Jody Barbeau Nagarjun Rao Carlyne D. Cool Luis A. Sosa-Lozano Dhiraj Baruah Erin Hammelev Alyssa Busalacchi Amy Rymaszewski Jeff Woodliff Shaoying Chen Mary Bausch-Jurken John M. Routes 《The Journal of allergy and clinical immunology》2021,147(2):704-712.e17
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Ovarian aging occurs approximately 10 years prior to the natural age-associated functional decline of other organ systems. With the increase of life expectancy worldwide, ovarian aging has gradually become a key health problem among women. Therefore, understanding the causes and molecular mechanisms of ovarian aging is very essential for the inhibition of age-related diseases and the promotion of health and longevity in women. Recently, studies have revealed an association between adipose tissue (AT) and ovarian aging. Alterations in the function and quantity of AT have profound consequences on ovarian function because AT is central for follicular development, lipid metabolism, and hormonal regulation. Moreover, the interplay between AT and the ovary is bidirectional, with ovary-derived signals directly affecting AT biology. In this review, we summarize the current knowledge of the complex molecular mechanisms controlling the crosstalk between the AT and ovarian aging, and further discuss how therapeutic targeting of the AT can delay ovarian aging. 相似文献
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Angeline S.L. Tay Chenhao Li Tannistha Nandi Kern Rei Chng Anand Kumar Andiappan Vijaya Saradhi Mettu Camille de Cevins Aarthi Ravikrishnan Charles-Antoine Dutertre X.F. Colin C. Wong Amanda Hui Qi Ng Sri Anusha Matta Florent Ginhoux Olaf Rötzschke Fook Tim Chew Mark B.Y. Tang Yik Weng Yew Niranjan Nagarajan John E.A. Common 《The Journal of allergy and clinical immunology》2021,147(4):1329-1340