Results 51 to 60 of about 55,479 (259)

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

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Avaliação ultrassonográfica da anomalia vascular portossistêmica em cão: relato de caso Ultrasonographic evaluation of portosystemic vascular anomaly in dog: a case report

Arquivo Brasileiro de Medicina Veterinária e Zootecnia, 2009
Relata-se a avaliação ultrassonográfica, com auxílio do Doppler em cores, da anomalia vascular portossistêmica em um cão da raça Poodle Toy, que apresentou edema pulmonar e alterações gastrintestinais.
M.A.R. Feliciano, C.A.L. Leite, A.C. Nepomuceno, T. Silveira, R.A.L. Muzzi, W.R.R. Vicente   +5 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Anticoagulation and vascular anomalies

Research and Practice in Thrombosis and Haemostasis
A State of the Art lecture titled "Anticoagulation and Vascular Anomalies" was presented at the International Society on Thrombosis and Haemostasis (ISTH) Congress in 2023. Vascular anomalies have been classified by the International Society for the Study of Vascular Anomalies into vascular tumors and vascular malformations.
Shelley E. Crary, Joana M. Mack
openaire   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Multicenter and Multivariate Analysis of Complications Associated with Biliary and Vascular Anomalies in Patients Who Underwent Laparoscopic Cholecystectomy

Cyprus Journal of Medical Sciences
BACKGROUND/AIMS: In this retrospective study, the aim was to analyze complications associated with biliary and vascular anomalies in patients who underwent cholecystectomy.
Vahit Mutlu, Kenan Erzurumlu, Kadir Yılmaz   +2 more
doaj   +1 more source

Variable response to propranolol therapy for infantile hemangiomas

Indian Journal of Dermatology, 2012
Since propranolol was accidentally discovered to induce involution of hemangiomas, it is being used by many clinicians with a favourable response. We present our experience with use of propranolol and report three infants with hemangiomas who were ...
Vishesh Jain, Subhasis Roychoudhury, Rajiv Chadha, Archana Puri   +3 more
doaj   +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

Computed Tomographic Hepatic Volumetry in Dogs with Congenital Portosystemic Shunts

Veterinary Sciences
CTHV is a non-invasive and accurate method for assessing liver volume in dogs. CTHV has not been studied in each type of extrahepatic PSS in dogs. This study aimed to use CTHV to compare liver volumes in dogs with different types of PSSs that had been ...
Hitomi Kurihara, George Moore, Masahiro Murakami   +2 more
doaj   +1 more source