Results 41 to 50 of about 55,038 (279)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]

, 2012
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Atlihan, F, Hazan, F, Jeffery, S, Kantekin, E, Ostergaard, P, Ozkinay, F, Ozturk, T   +6 more
core   +1 more source

Lymphedema

Annals of Plastic Surgery, 1979
The Scientific Board of the California Medical Association presents the following inventory of items of progress in plastic surgery. Each item, in the judgment of a panel of knowledgeable physicians, has recently become reasonably firmly established, both as to scientific fact and important clinical significance.
openaire   +2 more sources

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Robot-Assisted Lymph Node-to-Vein Anastomosis: Lessons from the First 22 Cases at a High-Volume Lymphatic Supermicrosurgery Center

Current Oncology
(1) Background: Lymphedema is a common but underrecognized sequela of cancer treatment. Supermicrosurgical procedures such as lymphaticovenular anastomosis (LVA) and, more recently, lymph node-to-vein anastomosis (LNVA) have emerged as effective options ...
Wei F. Chen, David C. F. Cheong, Erica Tedone Clemente, Melis Salman   +3 more
doaj   +1 more source

Diagnostic Accuracy of Lymphoscintigraphy for Lymphedema and Analysis of False-Negative Tests

Plastic and Reconstructive Surgery, Global Open, 2017
Background:. Lymphedema is the chronic enlargement of tissue due to inadequate lymphatic function. Diagnosis is made by history and physical examination and confirmed with lymphoscintigraphy.
Aladdin H. Hassanein, MD, MMSc, Reid A. Maclellan, MD, MMSc, Frederick D. Grant, MD, Arin K. Greene, MD, MMSc   +3 more
doaj   +1 more source

Evaluating the Burden of Lymphedema Due to Lymphatic Filariasis in 2005 in Khurda District, Odisha State, India. [PDF]

PLoS Neglected Tropical Diseases, 2016
Over 1.1 billion people worldwide are at risk for lymphatic filariasis (LF), and the global burden of LF-associated lymphedema is estimated at 16 million affected people, yet country-specific estimates are poor.A house-to-house morbidity census was ...
Victoria Walsh, Kristen Little, Ryan Wiegand, Jonathan Rout, LeAnne M Fox   +4 more
doaj   +1 more source

Treatment with YIGSR peptide ameliorates mouse tail lymphedema by 67 kDa laminin receptor (67LR)-dependent cell-cell adhesion

Biochemistry and Biophysics Reports, 2023
Impaired microcirculation can cause lymphatic leakage which leads to a chronic swelling in the tissues of the body. However, no successful treatment gives any protection against lymphedema due to the lack of well-revealed pathophysiology of secondary ...
Y. Sakae, H. Takada, S. Ichinose, M. Nakajima, A. Sakai, R. Ogawa   +5 more
doaj   +1 more source

Omental Vascularized Lymph Node Flap: A Radiographic Analysis [PDF]

, 2018
Background Vascularized lymph node transfer is an increasingly popular option for the treatment of lymphedema. The omental donor site is advantageous for its copious soft tissue, well-defined collateral circulation, and large number of available nodes ...
Chu, Michael W., Cook, Julia A., Sasor, Sarah E., Tholpady, Sunil S.   +3 more
core   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source