Results 121 to 130 of about 39,706 (298)

Avaliação nutricional e do perfil lipídico em crianças e adolescentes infectadas pelo HIV tratadas com terapia antirretroviral de alta potência [PDF]

open access: yes, 2011
INTRODUCTION: HIV-infected children and adolescents treated with highly active antiretroviral therapy (HAART) regimens that include a protease inhibitor (PI) can show significant improvements in clinical outcomes, nutritional status and quality of life ...
CERVI, Maria Célia   +5 more
core   +2 more sources

The pathophysiology, presentation and classification of Type 1 diabetes

open access: yesDiabetes, Obesity and Metabolism, Volume 27, Issue S6, Page 15-27, August 2025.
Abstract Type 1 diabetes is characterised by the autoimmune destruction of pancreatic β‐cells, leading to an absolute or near‐absolute insulin deficiency. Although traditionally associated with childhood onset, it can manifest at any age, and it is increasingly recognised that there is significant heterogeneity in its clinical presentation. This review
Kristie I. Aamodt, Alvin C. Powers
wiley   +1 more source

Nuclear Envelope, Nuclear Lamina, and Inherited Disease [PDF]

open access: yes, 2005
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases.
Courvalin, Jean-Claude, Worman, Howard,
core   +4 more sources

Shorter Telomeres and Faster Telomere Attrition in Individuals With Five Syndromic Forms of Intellectual Disability: A Systematic Review and Meta‐Analysis

open access: yesJournal of Intellectual Disability Research, Volume 69, Issue 8, Page 641-654, August 2025.
ABSTRACT Background People with intellectual disability suffer complex challenges due to adaptive functioning limitations, high rates of chronic diseases and shortened lifespans compared with the general population. Telomere shortening is a hallmark of ageing, and short telomeres are linked to neurological disorders.
Sarah M. Hanley   +3 more
wiley   +1 more source

Proteasomal diseases are a new branch of autoinflammatory pathology

open access: yesСовременная ревматология, 2013
The paper deals with a new autoinflammatory disease entity that is proteasomal diseases. The latter include three nosological entities: Nakajo–Nishimura syndrome (NNS), Japanese autoinflammatory syndrome with lipodystrophy; chronic atypical neutrophilic ...
Evgeny Stanislavovich Fedorov
doaj   +1 more source

Leptin induces TNFα-dependent inflammation in acquired generalized lipodystrophy and combined Crohn’s disease

open access: yesNature Communications, 2019
Leptin has been shown to modulate intestinal inflammation in mice. However, clinical evidence regarding its immune-stimulatory potential in human Crohn’s disease remains sparse.
J. Ziegler   +24 more
semanticscholar   +1 more source

Lipoatrophic diabetes. Report of a case [PDF]

open access: yes, 1978
The female patient initially showed the acquired type of total lipoatrophy at about 8 years of age. At 12 years of age, the onset of diabetes mellitus was speculated from advanced pyodermia and dedentition.
Aoi, Katsuyuki   +5 more
core   +1 more source

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients

open access: yesScientific Reports
In this study, we analysed the mutation spectrum in subjects with suspected lipodystrophy using a targeted Next-generation sequencing (NGS) approach. Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPARG, ZMPSTE24,
Remya Rajan   +8 more
doaj   +1 more source

Low prevalence of lipodystrophy in HIV-infected Senegalese children on long-term antiretroviral treatment: the ANRS 12279 MAGGSEN Pediatric Cohort Study

open access: yesBMC Infectious Diseases, 2018
Background The long-term benefits of antiretroviral treatment (ART) are associated with metabolic complications, especially lipodystrophy, which has been well described among HIV-infected adults and children on ART in developed settings.
Cecile Cames   +11 more
doaj   +1 more source

Advanced Lipoprotein Analysis Shows Atherogenic Lipid Profile That Improves After Metreleptin in Patients with Lipodystrophy.

open access: yesJournal of the Endocrine Society, 2019
Context Patients with lipodystrophy have dyslipidemia and insulin resistance. Leptin treatment with metreleptin in lipodystrophy decreases insulin resistance and lowers triglycerides without changing high-density lipoprotein.
A. Kinzer   +4 more
semanticscholar   +1 more source

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