Results 51 to 60 of about 35,038 (256)

Dual Topical Therapy. The Future of Stretch Marks?

JEADV Clinical Practice, EarlyView.
ABSTRACT Striae distensae, or stretch marks, are linear scars that result from mechanical stretching of dermal tissue. They are most prevalent in women and in pregnancy, puberty, and obesity. The psychological and cosmetic symptoms may present a pathological synergy with the physical distress that stretch marks represent, especially if the patient is ...
Vicente Manuel Cisneros Rosell, Ramon Grimalt   +1 more
wiley   +1 more source

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

Orphanet Journal of Rare Diseases
Background This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associated with HRQoL ...
Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac, Pascal Amedro   +10 more
doaj   +1 more source

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

Scientific Reports, 2021
Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities.
Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil, Karegowda M. Arun, Pujar V. Suresh, Viralam S. Kiran, Sateesh Siddaiah, Shreesha Maiya, Shrikanth K. Venkatachalagupta, Neethukrishna Kausthubham, Fanny Kortüm, Isabella Rau, Alexandra Wey-Fabrizius, Lotte Van Den Heuvel, Josephina Meester, Lut Van Laer, Anju Shukla, Bart Loeys, Katta M. Girisha, Kerstin Kutsche   +19 more
doaj   +1 more source

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model [PDF]

, 2014
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor beta (TGF beta)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism,
Callewaert, Bert, Campens, Laurence, Casteleyn, Christophe, Cornillie, Pieter, Coucke, Paul, De Backer, Julie, De Paepe, Anne, De Vos, Filip, Deleye, Steven, Dietz, Harry, Essers, Jeroen, Loeys, Bart, Renard, Marjolijn, Segers, Patrick, Staelens, Steven, Trachet, Bram, van Heijningen, Paula, Vandeghinste, Bert   +17 more
core   +5 more sources

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

The role of epidermal growth factor-like module containing mucin-like hormone receptor 2 in human cancers. [PDF]

, 2014
G-protein coupled receptors (GPCRs) are among the most diverse and ubiquitous proteins in all of biology. The epidermal growth factor-seven span transmembrane (EGF-TM7) subfamily of adhesion GPCRs is a small subset whose members are mainly expressed on ...
Bloch, Orin, Ivan, Michael E, Kaur, Gurvinder, Oh, Michael C, Oh, Taemin, Parsa, Andrew T, Safaee, Michael, Sayegh, Eli T, Sun, Matthew Z   +8 more
core   +2 more sources

Marfan's syndrome: an overview [PDF]

Sao Paulo Medical Journal, 2010
Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a ...
Yuan, Shi-Min, Jing, Hua
openaire   +5 more sources

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations

Haemophilia, EarlyView.
ABSTRACT Background In patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers–Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (
Perla Bandini, Nina Borràs, Carme Altisent, Judith Sánchez‐Raya, Laura Martin‐Fernandez, Iris Garcia‐Martínez, Natàlia Comes, Lorena Ramírez, Marta Martorell, Carlos Hobeich, Francisco Vidal, Irene Corrales   +11 more
wiley   +1 more source

Management of an elderly patient with nonsyndromic TGFBR1‐related aortopathy: A case report

Clinical Case Reports
Key Clinical Message Genetic variants associated with hereditary TAAD may contribute to nonsyndromic TAAD. We present the case of a 72‐year‐old man with nonsyndromic TAAD undergoing prophylactic surgery after a gene panel test revealed a pathogenic ...
Hitomi Aono‐Setoguchi, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Issei Komuro, Norihiko Takeda   +7 more
doaj   +1 more source