Results 101 to 110 of about 131,186 (290)

Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus

Orphanet Journal of Rare Diseases
Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anomalies (CLA) are part of the spectrum of lymphatic malformations (LMs) that share similar oncogenic mutations to cancer.
Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon   +7 more
doaj   +1 more source

Multiple Choriangiomas of Placenta [PDF]

, 2011
Placental chorangiomas, not an uncommon condition is often small and hence usually goes unnoticed . However the incidence of complications is high when the chorangioma is large. We hereby present an unusual case of large and multiple choriangiomas with
Krishnan, Nalini, MG, Abhishek, MU, Thejaswini, S, Vijay Shankar, Shivakumar, Swarna   +4 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Knowledge, attitudes, and practices on hemangioma among parents of infantile hemangioma patients in South China

Scientific Reports
This study investigated the knowledge, attitudes, and practices (KAP) of parents of infantile hemangioma (IH) patients in South China through a cross-sectional survey conducted from November 2023 to March 2024. A structured questionnaire was administered
Xiaoyun Tan, Zhenyin Liu, Haibo Li, Jiejun Xia, Chuanqiang Niu, Xiaoying Liu, Xiaotong Liang, Honglin Wang   +7 more
doaj   +1 more source

Characterization of Laser-Resistant Port Wine Stain Blood Vessels Using In Vivo Reflectance Confocal Microscopy. [PDF]

, 2019
Background and objectivesPort wine stain (PWS) is a congenital vascular malformation of the human skin. Laser is the treatment of choice for PWS. Laser-resistant PWS is one crucial factor accounting for inadequate treatment outcome, which needs to be ...
Chen, Jing, Fu, Zhibing, Huang, Jian, Huang, Jinhua, Lu, Jianyun, Nelson, J Stuart, Tan, Wenbin, Tang, Zhen, Xiang, Yaping   +8 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Salvage of cardiopulmonary collapse caused by ethanol sclerotherapy for vascular malformations: clinical experience at a single center and literature review

Frontiers in Cardiovascular Medicine
ObjectiveThis review aims to summarize the salvage experience of cardiopulmonary collapse occurring as a result of absolute ethanol sclerotherapy for vascular malformations.MethodsIn total, we reviewed three cases of cardiopulmonary collapse induced by ...
Lixin Su, Lixin Su, Yan Zhao, Yuchen Shen, Xindong Fan, Zhenfeng Wang, Deming Wang, Qingyang Li   +7 more
doaj   +1 more source

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

Radiological Society of North America (RSNA) 3D printing Special Interest Group (SIG): Guidelines for medical 3D printing and appropriateness for clinical scenarios [PDF]

, 2018
Este número da revista Cadernos de Estudos Sociais estava em organização quando fomos colhidos pela morte do sociólogo Ernesto Laclau. Seu falecimento em 13 de abril de 2014 surpreendeu a todos, e particularmente ao editor Joanildo Burity, que foi seu ...
Ballard, David H, et al,
core   +2 more sources