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Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinical implications of genetic discoveries in congenital scoliosis.
Orphanet J Rare Dis
January 2025
Department of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1St Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China.
Background: Compound inheritance of TBX6 accounts for approximately 10% of sporadic congenital scoliosis (CS) cases. Such cases are called TBX6-associated congenital scoliosis (TACS). TACS has been reported to have certain common clinical phenotypes.
View Article and Find Full Text PDFThree-dimensional morphometry of the human thoracic aorta using centerline analysis based on least-squares plane fitting.
JTCVS Open
December 2024
Department of Cardiovascular Surgery, Seirei Mikatahara General Hospital, Hamamatsu, Japan.
Objective: A novel approach to 3-dimensional morphometry of the thoracic aorta was developed by applying centerline analysis based on least-squares plane fitting, and a preliminary study was conducted using computed tomography imaging data.
Methods: We retrospectively compared 3 groups of patients (16 controls without aortic disease, and 16 cases each with acute type B aortic dissection and congenital bicuspid aortic valve). In addition to the standard assessment indices for curvature κ and torsion τ, we conducted coordinate transformation based on the least-squares plane, divided the centerline into 3 representative features (transverse, anterior-posterior, and longitudinal displacements), and analyzed the overall and local displacement in each direction.
Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.
Prenat Diagn
January 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.
Penile suspensory ligament: anatomy, function, and clinical perspectives of its repair.
J Sex Med
January 2025
Department of Urology, Holmesglen Private Hospital, Moorabbin 3189, Victoria, Australia.
Background: The penile suspensory ligament (PSL) plays a significant role in penile support and erection and its injury or congenital absence may result in functional impairment of erectile function.
Aim: To describe the diagnosis and surgical repair technique for PSL abnormalities and overall outcomes.
Methods: A comprehensive review of the literature was performed to understand the anatomic relevance of the PSL and historical management of PSL defects.
Transforming a Young Life: Grade 5 Schwab Osteotomy for a Child With Congenital Kyphoscoliosis With Rare T12 Hemivertebra.
Cureus
November 2024
Orthopedic Surgery, Universiti Putra Malaysia, Serdang, MYS.
Kyphoscoliosis is a spinal disorder where the spine's natural curvature is abnormally altered in multiple planes. It may be associated with the presence of a hemivertebrae, as discussed in this case. Negligence of this deformity may cause symptoms of back pain, worsening spinal deformity leading to reduced lung expansion, or neurological deficit impacting the quality of life for the worse.
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