Results 51 to 60 of about 139,541 (264)

First 10 transcatheter pulmonary valve-in-valve procedures in rajaie cardiovascular medical and research center

Research in Cardiovascular Medicine, 2022
Background: Transcatheter pulmonary valves (TPVs) are feasible and much less invasive options for surgical right ventricular outflow tract (RVOT) repair or valve replacement in patients with degeneration of the pulmonary valve bioprosthesis or RVOT ...
Seifollah Abdi, Ata Firouzi, Mohammad Javad Alemzadeh-Ansari, Zahra Hosseini, Azin Alizadehasl, Zahra Khajali, Sedigheh Saedi, Nima Salehi, Bahareh Mohajer Koohestani, Ehsan Khalilipur   +9 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 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

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

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +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

Case Report of Absent Pulmonary Valve with Intact Interventricular Septum

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging
Absent pulmonary valve syndrome is a rare cardiac malformation, usually associated with tetralogy of Fallot. Its presence with intact interventricular septum is even less common with case reports or very small series in the literature. We describe a case
Deendayal Nagar, Ul Ayoub Touseef, Satish Koirala, Neeraj Awasthy   +3 more
doaj   +1 more source

Initial experience with Edwards SAPIEN valve transcatheter implantation in native RVOT in Latvia

Acta Medica Lituanica, 2020
Transcatheter pulmonary valve implantation has been a well-known method for more than a decade, but there are still many challenging cases when a personalized solution is needed.
Luize Auzina, Inguna Lubaua, Elina Ligere, Inga Lace, Inta Bergmane, Baiba Matsone-Matsate, Pauls Silis, Lauris Smits, Normunds Sikora, Lars Søndergaard, Valts Ozolins   +10 more
doaj   +1 more source

Congenital Absence of the Pulmonary Valve [PDF]

Circulation, 1957
The autopsy on a 32-year-old man revealed an absence of the pulmonary valve, a ventricular septal defect, and a single coronary artery. Congenital absence of the pulmonary valve has not been previously reported. The diagnosis of the accompanying pulmonary incompetence is discussed in the light of the catheterization studies and clinical findings.
L A, CAMPEAU, P E, RUBLE, W B, COOKSEY
openaire   +2 more sources