Results 141 to 150 of about 234,426 (253)

Xanthoma Tendinosum And Familial Hypercholesterolemia

, 2003
A 40 year old female presented with multiple tendon xanthomas over extensor tendons of hands and feet, xanthelasma palpebrarum, arcus corneae and early atherosclerosis of retinal vessels.
Mahajan Vikram K, Sharma N. L, Sood Sandeep   +2 more
core  

Body mass index at diagnosis, postdiagnosis change, and role of metabolic comorbidities in relation to survival in nonmetastatic renal cell carcinoma patients

Cancer, Volume 132, Issue 21, 1 November 2026.
Abstract Background Obesity is a recognized risk factor for renal cell carcinoma (RCC) incidence, but higher body mass index (BMI) measured at diagnosis has been paradoxically associated with improved survival. This study investigated whether postdiagnosis changes in BMI and metabolic comorbidities combined with BMI at diagnosis are associated with ...
Monica Sarker, Zhengyi Deng, Eric C. Kauffman, Li Tang, Marilyn L. Kwan, Marvin E. Langston, Sumati Gupta, G. Daniel Grass, Eric A. Singer, Yousef Zakharia, Paul V. Viscuse, Laura Graham, Saum Ghodoussipour, Bodour Salhia, Sean Q. Kern, Adanma Ayanambakkam, Zin Myint, Jennifer King, Seyi Oderinde, Michelle L. Churchman, Robert J. Rounbehler, Ken Batai   +21 more
wiley   +1 more source

Familial Hypercholesterolemia Combined With Sitosterolemia. [PDF]

JACC Case Rep
Sun J, Han X, He Y, Jiang Y.
europepmc   +1 more source

Efficacy and Safety of Oral Non‐Statin Lipid‐Lowering Therapies in Dyslipidaemia: A Systematic Review and Network Meta‐Analysis

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
A network meta‐analysis of 43 randomized trials showed that oral combination therapies, particularly obicetrapib plus ezetimibe and bempedoic acid plus ezetimibe, achieved the greatest LDL‐C reduction with reassuring safety profiles, supporting their use as effective oral alternatives for patients with dyslipidaemia. ABSTRACT Introduction Dyslipidaemia
Tamer Hodrob, Reem J. Saad, Aya Hamdy, Mariam Saleh Alheneedy, Ahmed Mohamed Shehata Abdelfattah Elsayed, Elsaghir Ghazy, Hazem Ayesh   +6 more
wiley   +1 more source

Efficacy and Safety of Enlicitide in Hypercholesterolemia: A Systematic Review and Meta‐Analysis of Randomized Controlled Trials

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
Enlicitide (MK‐0616), an oral macrocyclic peptidyl PCSK9 inhibitor, blocks the interaction between circulating PCSK9 and hepatic LDL receptors, enhancing LDL‐C clearance from the bloodstream. This systematic review and meta‐analysis of three randomized, double‐blind, placebo‐controlled trials (n = 3593) evaluated the efficacy and safety of enlicitide ...
Muhammad Farhan, Muhammad Murtaza, Muhammad Mujtaba Rasool, Farah Khan, Hammad Amjad, Kuldeep Dalpat Rai, Sheikh Muhammad Ebtehaj Ali, Ahmed Asad Raza, Muhammad Ahmad Sohail, Abedin Samadi, Furqan Hassan   +10 more
wiley   +1 more source

Renin–Angiotensin System Activation Drives Early Cardiorenal Dysfunction in Normotensive Prediabetes

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
Increased angiotensin‐converting enzyme 1 (ACE1) expression in perivascular and perirenal adipose tissues of prediabetic rats contributes to early cardiovascular and cardiorenal deterioration in the absence of obesity and hypertension. Systemic Angiotensin II exacerbates the observed detrimental effects of prediabetes.
Nour‐Mounira Z. Bakkar, Rana Ghazi, Nahed Mougharbil, Safaa H. Hammoud, Ramzi Sabra, Ali H. Eid, Ahmed F. El‐Yazbi   +6 more
wiley   +1 more source

The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype. [PDF]

Curr Atheroscler Rep
Bourbon M, Alves AC, Chora JR, Hooper AJ, Abifadel M.   +4 more
europepmc   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Genetic Analysis of Familial Hypercholesterolemia in Iberoamerican Countries

, 2016
The Iberoamerican Familial Hypercholesterolemia network (IBAFH_N) was created in 2013 to promote awareness for Familial Hypercholesterolemia (FH) in these countries – Argentina, Brazil, Chile, Mexico, Portugal, Spain, Uruguay and more recently Colombia –
Dell'Oca, N., Aguilar-Salinas, C., Mata, P., Vázquez-Cárdenas, A., Reyes, X., Bourbon, Mafalda, Santos, R., Medeiros, A.M., Bañares, V., Cuevas, A., Pereira, A., Schreier, L., Chora, J.R., Corral, P., Alonso, R., Alves, A.C., Magaña-Torres, T., Stoll, M., Perez Isla, L., Jannes, C.   +19 more
core  

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Mouna Zribi, Mariem Bhouri, Safa Khatrouch, Hela Boudabous, Johannes Häberle, Mohamed Slim Abdelmoula, Amel Ben Chehida   +6 more
wiley   +1 more source