Results 141 to 150 of about 64,649 (279)

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian   +7 more
wiley   +1 more source

Preventing Cerebral Air Embolism Following Central Venous Catheter Removal: The Role of Tissue Adhesives

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Tissue adhesives are a simple yet effective solution to achieve adequate sealing of the tract. Early hyperbaric treatment is essential and definitive treatment for gas embolism.
Ananda Shakya, Pieter Bothma
wiley   +1 more source

Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1‐Related Noonan Syndrome (p.Ser257Leu): A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT This case describes a female infant with RAF1‐related Noonan syndrome who developed severe hypertrophic obstructive cardiomyopathy, pulmonary hypertension, and cardiorespiratory failure that responded to trametinib treatment but ultimately progressed to death following dose tapering and discontinuation of therapy. To the best of our knowledge,
C. Noah Nilsson   +8 more
wiley   +1 more source

Tricuspid valve dysplasia in dogs [PDF]

open access: yes
A general overview of tricuspid valve dysplasia in dogs is presented in this review. This congenital disease has been described in numerous large dog breeds but especially the Labrador retriever is predisposed.
Bavegems, Valérie   +5 more
core  

Atrial Flutter as a Late Presentation of Scimitar Vein in an Adult With Prior ASD Repair

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Adult patients with unexplained atrial arrhythmias and right heart dilation should prompt consideration of congenital anomalies such as scimitar vein, even decades after atrial septal defect repair. Early recognition using multi‐modality imaging may prevent delayed diagnosis and progressive cardiopulmonary complications.
Fereshte Rastegarnasab   +3 more
wiley   +1 more source

Two Cases of Post‐Operative Coronary–Cameral Fistulas After Unusual Myectomy Procedures

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
Post‐surgical coronary–cameral fistulas (CCF) can occur after various myectomy procedures. Here we present one case of CCF after resection of the hypertrophied RV muscle bundle in double‐chambered RV (DCRV) and one case of CCF after subaortic web resection.
Neda Toofaninejad   +3 more
wiley   +1 more source

Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]

open access: yes
Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E.   +2 more
core  

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa   +7 more
wiley   +1 more source

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