Results 51 to 60 of about 1,419 (159)

A novel hybrid BonT‐A and hyaluronic acid cannula‐based technique for eyelid ptosis and periorbital rejuvenation

Journal of Cosmetic Dermatology, Volume 23, Issue 6, Page 2001-2006, June 2024.
Abstract Background Eyelid ptosis is characterized by an inferior displacement of the upper eyelid when the eye assumes its primary position. Besides its aesthetic implications, ptosis can also adversely affect visual acuity. Objective This study aimed to evaluate the simultaneous administration of IncobotulinumtoxinA (IncoBonTA) and hyaluronic acid ...
Luis Alberto Parra Hernández, Andrea Marcela Parra Hernández, Desiree Castelanich, Daniella Shitara, Maricarmen Chacín   +4 more
wiley   +1 more source

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

BMC Ophthalmology, 2018
Background The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands.
Cerys J. Evans, Lubica Dudakova, Pavlina Skalicka, Gabriela Mahelkova, Ales Horinek, Alison J. Hardcastle, Stephen J. Tuft, Petra Liskova   +7 more
doaj   +1 more source

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR

Molecular Genetics &Genomic Medicine, Volume 12, Issue 3, March 2024.
Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase of blood cholesterol. The LINE‐1 mobile element insertion was identified in an Egyptian family with familial hypercholesterolemia. This insertion may contribute to the high prevalence of hypercholesterolemia in Egypt and the finding underscores the ...
Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee   +4 more
wiley   +1 more source

Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency1

Journal of Lipid Research, 2008
Our aim was to characterize HDL subspecies and fat-soluble vitamin levels in a kindred with familial apolipoprotein A-I (apoA-I) deficiency. Sequencing of the APOA1 gene revealed a nonsense mutation at codon −2, Q[−2]X, with two documented homozygotes ...
Raul D. Santos, Ernst J. Schaefer, Bela F. Asztalos, Eliana Polisecki, Jian Wang, Robert A. Hegele, Lilton R.C. Martinez, Marcio H. Miname, Carlos E. Rochitte, Protasio L. Da Luz, Raul C. Maranhão   +10 more
doaj   +1 more source

The evaluation and management of patients with LDL-C ≥ 190 ​mg/dL in a large health care system

American Journal of Preventive Cardiology, 2020
Objectives: Patients with severe hyperlipidemia (low-density lipoprotein-cholesterol (LDL-C) ≥190 ​mg/dL) have a significantly increased risk of cardiovascular disease (CVD) and are more likely to have familial hypercholesterolemia (FH).
Candace L. Jackson, Zahid Ahmad, Sandeep R. Das, Amit Khera   +3 more
doaj   +1 more source

Functional Analysis of 3′UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia

Human Mutation, Volume 2024, Issue 1, 2024.
Familial hypercholesterolemia (FH) is an autosomal dominant disease with an estimated prevalence of 1 in 200‐250 individuals. Patients with FH are at increased risk of premature coronary artery disease. Early diagnosis and treatment are essential for improving clinical outcomes. In many cases, however, the genetic diagnosis is not confirmed. At present,
Javier Sanguino Otero, Carmen Rodríguez-Jiménez, Jose Mostaza Prieto, Carlos Rodríguez-Antolín, Ana Carazo Alvarez, Francisco Arrieta Blanco, Sonia Rodríguez-Nóvoa, William Oetting   +7 more
wiley   +1 more source

Ophtalmic findings in autoimmune liver diseases: a single center experience

The Turkish Journal of Gastroenterology, 2019
INTRODUCTION: Ophtalmic pathologies may be seen in various liver diseases related to autoimmunity, complications, drugs and other treatment modalities. In this study we aimed to assess the ophtalmic findings in autoimmune liver diseases (AILD) including ...
Celal Ulasoglu, Ozlem Turkyilmaz, Kenan Ozendi, Ebubekir Senates, Ilyas Tuncer   +4 more
doaj   +1 more source

Cross-Sectional Study to Estimate the Prevalence of Familial Hypercholesterolemia in Selected Regions of the Russian Federation: Relevance, Design of the Study and Initial Characteristics of the Participants

Рациональная фармакотерапия в кардиологии, 2020
Aim. To study the prevalence of familial hypercholesterolemia (FH), the characteristics of the clinical features and treatment of the disease in selected regions of the Russian Federation, this article describes the design and initial characteristics of ...
A. N. Meshkov, A. I. Ershova, S. A. Shalnova, A. S. Alieva, S. S. Bazhan, O. L. Barbarash, D. Y. Bogdanov, I. A. Viktorova, Yu. I. Grinshtein, D. V. Duplyakov, O. N. Kalachikova, A. V. Kontsevaya, R. A. Libis, I. V. Medvedeva, V. A. Nevzorova, N. N. Prishchepa, O. P. Rotar, V. N. Serebryakova, I. A. Trubacheva, T. M. Chernykh, E. A. Shutemova, O. M. Drapkina, S. A. Boytsov   +22 more
doaj   +1 more source

Familial Hypercholesterolemia: Diagnostic Differences between Domestic and Foreign Guidelines [PDF]

Zhongguo quanke yixue
Family hypercholesterolemia (FH) is a common genetic metabolic disease, characterized by an abnormal increase in low-density lipoprotein cholesterol (LDL-C), which may manifest as corneal arcus and xanthomas.
MA Hongyang, YUE Anna, SUN Kangyun
doaj   +1 more source

Familial hypercholesterolemia with multiple cutaneous xanthomas

Indian Journal of Dermatology, 2006
An interesting episode of homozygous familial hypercholesterolemia affecting four children born to a consanguinous parents belonging to two different families is reported for its rarity.
Reddy BSN, Chaudhuri S
doaj