Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases. Curr Med Res Opin. 2018 Oct 08;:1-22 Authors: Vatier C, Vantyghem MC, Storey C, Jéru I, Christin-Maitre S, Fève B, Lascols O, Beltrand J, Carel JC, Vigouroux C, Bismuth E Abstract Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. insulin resistance, dyslipidemia, fatty liver and diabetes, and to provide appropriate genetic counselling. By means of several representative case studies, this article illustrates the diagnostic and management challenges of lipodystrophic syndromes. Berardinelli-Seip congenital lipodystrophy (BSCL) is typically diagnosed at birth, or soon thereafter, with generalized lipoatrophy and hepatomegaly secondary to hepatic steatosis. Physicians must also consider this diagnosis in adults with atypical non-autoimmune diabetes, hypertriglyceridemia and a lean and muscular phenotype. The BSCL1 subtype due to mutations in the AGPAT2 gene can have an unusual presentation, especially in neonates and infants. Particular attention should be paid to infants presenting failure to thrive who also have hepatomegaly and metabolic derangements. The BSCL2 subtype due to mutations in the BSCL gene tends to be more severe than BSC...
A group of moderately ill people were given hydroxychloroquine, which appeared to ease their symptoms quickly, but more research is needed.
Publication date: Available online 31 March 2020Source: Materials Today: ProceedingsAuthor(s): K. Senthil Kannan, S. Gayathri Devi, Prithiviraj Nagarajan, G. Flora, R. Ranadevan
Publication date: Available online 31 March 2020Source: Clinica Chimica ActaAuthor(s): Tomoyuki Kawada
Authors: Ventura CG, Roque FL, Sousa IQ, Lobo RD, Luders C Abstract INTRODUCTION: Chronic hemodialysis (HD) patients are considered to be at high risk for infection. Here, we describe the clinical outcomes of chronic HD patients with influenza A (H1N1) infection and the strategies adopted to control an outbreak of influenza A in a dialysis unit. METHODS: Among a total of 62 chronic HD patients, H1N1 infection was identified in 12 (19.4%). Of the 32 staff members, four (12.5%) were found to be infected with the H1N1 virus. Outcomes included symptoms at presentation, comorbidities, occurrence of hypoxemia, hospit...
Publication date: Available online 1 April 2020Source: Food HydrocolloidsAuthor(s): Maoshen Chen, Liping Guo, John Nsor-Atindana, H. Douglas Goff, Wenxi Zhang, Fang Zhong
CONCLUSION: Our study showed that Tim-3 might play an important role in the development of AP through regulating the inflammatory response. PMID: 32224541 [PubMed - in process]
CONCLUSION: Our results indicated that MSC-secretome had DPP-IV/CD26 and APN/CD13 activity. The DPP-IV/CD26 activity was decreased following stimulation of MSCs by toll-like receptor 4 agonist. Further studies are needed to reveal the possible contribution of DPP-IV/CD26 and APN/CD13 in the anti-inflammatory functions of MSC-CM. PMID: 32224540 [PubMed - in process]
Publication date: Available online 31 March 2020Source: Life SciencesAuthor(s): J.D. Villeda-González, J.L. Gómez-Olivares, L.A. Baiza-Gutman, L. Manuel-Apolinar, L. Damasio-Santana, Cesar Millán-Pacheco, Selene Ángeles-Mejía, M.C. Cortés-Ginez, M. Cruz-López, C.J. Vidal-Moreno, M. Díaz-Flores
Publication date: Available online 31 March 2020Source: Fish &Shellfish ImmunologyAuthor(s): Misbah Irm, Sehrish Taj, Min Jin, Hardy Joël Timothée Andriamialinirina, Cheng Xin, Qicun Zhou
Proportion is far higher than those found in clinical trials of the cancer drugs; study finds differences by cancer type.Medscape Medical News
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