Results 41 to 50 of about 15,745 (181)

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

Study of Risk Factors and Image Findings of Isolated Abdominal Incidentally Detected Aortic Dissection

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 429-435, March/April 2025.
We detect the risk factors and image characteristics of incidentally detected IAAD. Independent risk factors of IAAD included fatty liver and smoking. In the ultrasound findings of IAAD, an intimal flap was frequently observed. In the CT scan, displacement of intimal calcifications was frequently observed. For suspected IAAD, the abdominal aorta should
Hiromasa Tsubouchi, Hidenori Onishi, Koji Maeno, Masaya Nakagaichi, Ikue Tsukushi, Youichi Kitano, Yoshitaka Makino, Hiroyuki Hayashi, Hidekazu Terasawa, Hiroko Kabuto, Toshihiro Misawa, Taku Sanada, Azusa Hisada, Kazuo Notsumata, Kazuhiro Okafuji, Osamu Yamamura   +15 more
wiley   +1 more source

A 3D Geometric Morphometric Analysis of the Palatal Morphology in Marfan’s Syndrome: A Preliminary Study [PDF]

Journal of Clinical and Diagnostic Research, 2018
Introduction: Marfan’s Syndrome (MS) is a multisystem disorder of the connective tissue. A number of oral manifestations and craniofacial characteristics show a strong correlation with MS.
Giuseppina Laganà, Nicolò Venza, Valeria Paoloni, Fabio Bertoldo, Giovanni Ruvolo, Paola Cozza   +5 more
doaj   +1 more source

Marfan's syndrome and the heart [PDF]

Archives of Disease in Childhood, 2007
In recent years, there have been many advances in the treatment of cardiac disease in children with Marfan's syndrome. Early diagnosis, meticulous echocardiographic follow-up and multidisciplinary assessment are essential. Medical treatment with beta-blockers is probably helpful in most children with aortic root dilatation.
Alan Graham, Stuart, Andrew, Williams
openaire   +2 more sources

No increased risk of spinal cerebrospinal fluid leak after spinal manipulative therapy: A retrospective cohort study

PM&R, EarlyView.
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager, Collin M. Labak, Anthony N. Baumann, Tyler H. Snodgrass, Zachary A. Cupler   +4 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

Seminoma in Marfan's syndrome [PDF]

Postgraduate Medical Journal, 1979
Summary A patient with a testicular seminoma and Marfan's syndrome is described. The association is unlikely to be by chance alone, and an explanation in terms of either an associated congenital defect, or a minor chromosomal anomaly, is discussed.
A A, Epenetos, C H, Collis
openaire   +2 more sources

Multiple External Invasive Root Resorption and Calcification in Systemic Sclerosis—Case Report

International Endodontic Journal, EarlyView.
ABSTRACT Aim There are few reports in the literature of multiple external invasive root resorption (EIRR) lesions in patients with systemic sclerosis (SSc), and an association between root resorption and SSc is not well established. We report the only case that comprehensively illustrates—with the combination of histopathology, cone beam computed ...
Jee‐Yun Leung, Geoffrey Heithersay, Richard Logan, Sharon Liberali   +3 more
wiley   +1 more source

Neonatal Marfan Syndrome [PDF]

American Journal of Perinatology, 2019
Abstract Objective The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement. Study Design We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of ...
Tognato, Eleonora, Perona, Anna, Aronica, Angela, Bertola, Antonella, Cimminelli, Lina, De Vecchi, Simona, Eshraghy, Mohammad Reza, Loperfido, Bruna, Vivenza, Claudia, Manzoni, Paolo   +9 more
openaire   +2 more sources

Associations Between Imaging‐Detected Pulp Calcification and Systemic Diseases: A Systematic Review, Thematic Analysis, and Meta‐Analysis

International Endodontic Journal, EarlyView.
ABSTRACT Background Pulp calcification (PC) is a common imaging finding traditionally attributed to local factors or ageing. However, increasing evidence suggests that it may be associated with broader systemic biological disturbances. Clarifying this association may help determine whether dental pulp findings contribute to the interpretation of ...
José Evando da Silva‐Filho, Paula Maria da Costa Torres, Eduardo Diogo Gurgel‐Filho   +2 more
wiley   +1 more source