Results 51 to 60 of about 34,817 (256)

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

Frontiers in Endocrinology, 2020
Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy, associated with the progressive development of metabolic complications. BSCL type 1 (BSCL1) is caused by mutations in AGPAT2, encoding 1-acylglycerol-3phosphate-O-
Giovanni Ceccarini, Silvia Magno, Caterina Pelosini, Caterina Pelosini, Federica Ferrari, Maria Rita Sessa, Gaia Scabia, Gaia Scabia, Margherita Maffei, Margherita Maffei, Isabelle Jéru, Isabelle Jéru, Olivier Lascols, Olivier Lascols, Corinne Vigouroux, Corinne Vigouroux, Corinne Vigouroux, Ferruccio Santini   +17 more
doaj   +1 more source

Complement C3 variant and the risk of age-related macular degeneration [PDF]

, 2007
Background: Age-related macular degeneration is the most common cause of blindness in Western populations. Susceptibility is influenced by age and by genetic and environmental factors.
Armbrecht, AM, Bird, AC, Clayton, DG, Deary, IJ, Dhillon, B, Genetic Factors AMD Study G, Hayward, C, Khan, JC, Matharu, BK, Moore, AT, Morgan, J, Redmond, E, Sepp, T, Shahid, H, Thurlby, DA, Wright, AF, Yates, JRW   +16 more
core   +1 more source

Mineral‐targeted alkaline phosphatase improves bone graft‐mediated alveolar bone defect healing in mice

Journal of Periodontology, EarlyView.
Abstract Background Alveolar bone loss challenges tooth retention and implant placement. Freeze‐dried bone allograft (FDBA) is widely used for alveolar ridge preservation but has limitations in resorption rate and healing time. In this proof‐of‐concept study, we tested whether pro‐mineralization enzyme, tissue‐nonspecific alkaline phosphatase (TNAP ...
Kedith Sawangsri, Aonjittra Phanrungsuwan, Binnaz Leblebicioglu, José Luis Millán, Brian L. Foster   +4 more
wiley   +1 more source

Body image in women with HIV: a cross-sectional evaluation

AIDS Research and Therapy, 2006
Background HIV lipodystrophy syndrome is a recognized complication of potent antiretroviral therapy and is characterized by often dramatic changes in various body fat stores, both central and peripheral.
Becerra Karen, Lee Daniel, Harrity Shawn, Huang Jeannie S, Santos Rosanne, Mathews W Christopher   +5 more
doaj   +1 more source

Leptin in Relation to the Lipodystrophy-Associated Metabolic Syndrome [PDF]

Diabetes & Metabolism Journal, 2012
Leptin, an adipocyte-secreted hormone, regulates energy homeostasis as well as reproductive, neuroendocrine, immune and metabolic functions. Subjects with decreased amounts of fat in their adipose tissue, i.e., lipoatrophy, have low leptin levels. In the
Christos S. Mantzoros
doaj   +1 more source

Genetics of Lipodystrophy [PDF]

Endocrinology and Metabolism Clinics of North America, 2017
Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs.
Marissa, Lightbourne, Rebecca J, Brown
openaire   +2 more sources

Clinical phenotypes and biologic treatment use in juvenile dermatomyositis-associated calcinosis [PDF]

, 2018
Background Few risk factors have been identified for the development of calcinosis among patients with Juvenile Dermatomyositis, and currently no clinical phenotype has been associated with its development.
Al-Hammadi, Noor, Baszis, Kevin W, CARRA Legacy Registry Investigators,, Dharnidharka, Vikas R, Orandi, Amir B   +4 more
core   +2 more sources

Prevalence and Burden of Somatic Symptom Disorder in Atopic Dermatitis and Chronic Pruritus—The Persistent Somatic Symptoms Across Diseases: Pruritus (SOMA.PRU) Study

JEADV Clinical Practice, EarlyView.
In adults with atopic dermatitis and chronic pruritus, the mental comorbidity of Somatic Symptom Disorder is associated with higher average and worst pruritus intensity, higher psychological distress and lower quality of life. Additionally, there were nonsignificant changes in cutaneous nerve fiber densities in skin biopsies.
Stefan M. Kahnert, Ansgar Koechel, Gina L. Frank, Svenja Royeck, Claudia Zeidler, Felix Witte, Christian Mess, Konstantin Agelopoulos, Volker Huck, Bernd Löwe, Rupert Conrad, Gudrun Schneider, Stefan W. Schneider, Sonja Ständer   +13 more
wiley   +1 more source

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

JCRPE, 2020
Lipodystrophy is a heterogeneous group of disorders characterized by lack of body fat in characteristic patterns, which can be genetic or acquired. Lipodystrophy is associated with insulin resistance that can develop in childhood and adolescence, and ...
Samim Özen, Barış Akıncı, Elif A. Oral   +2 more
doaj   +1 more source

Dermatological Manifestations of Glucagon‐Like Peptide‐1 Receptor Agonists

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Glucagon‐like peptide‐1 receptor agonists (GLP‑1 RAs) play a pivotal role in treating type 2 diabetes. Despite their widespread use, their dermatological manifestations remain under‐recognized, hence the interest of this systematic review. Objectives This systematic review aims to assess dermatological manifestations associated with
Nour Ghostine, Maya Halabi‐Tawil
wiley   +1 more source