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Introduction: Giant omphalocele poses a conflict between eviscerated content and abdominal capacity, with associated risks such as compartment syndrome or cardiovascular compromise.
Clinical Case: We present the case of a prenatally diagnosed hepato-omphalocele, without associated abnormalities. At week 37, botulinum toxin was injected in the right hemiabdomen under fetal and maternal sedation.
Constitutive deletion of the obscurin-Ig58/59 domains induces atrial remodeling and Ca2+-based arrhythmogenesis.
JCI Insight
January 2025
Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, United States of America.
Obscurin is a giant protein that coordinates diverse aspects of striated muscle physiology. Obscurin immunoglobulin domains 58/59 (Ig58/59) associate with essential sarcomeric and Ca2+ cycling proteins. To explore the pathophysiological significance of Ig58/59, we generated the Obscn-ΔIg58/59 mouse model, expressing obscurin constitutively lacking Ig58/59.
View Article and Find Full Text PDFSix-Month Outcomes in the Long-Term Outcomes After the Multisystem Inflammatory Syndrome in Children Study.
JAMA Pediatr
January 2025
Department of Cardiology, Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts.
Importance: Multisystem inflammatory syndrome in children (MIS-C) is a life-threatening complication of COVID-19 infection. Data on midterm outcomes are limited.
Objective: To characterize the frequency and time course of cardiac dysfunction (left ventricular ejection fraction [LVEF] <55%), coronary artery aneurysms (z score ≥2.
Pre-patellar Tumoral Calcinosis of Knee with Intra-articular Extension: An Index Case Study.
J Orthop Case Rep
January 2025
Department of Orthopaedic Surgery, Maulana Azad Medical College, Bahadur Shah Marg, New Delhi, India.
Introduction: Tumoral calcinosis is a rare hereditary condition characterized by the deposition of calcium phosphate and hydroxyapatite in periarticular soft tissues. First described by Giard and Duret in 1898 and later detailed by Inclan in 1943, this condition has often been confused with other forms of periarticular calcification. Tumoral calcinosis predominantly affects young males and is typically found around major joints, such as the shoulder, elbow, hip, ankle, and wrist.
View Article and Find Full Text PDFGiant Granular Cell Tumor of the Left Thigh, a Rare Case Report and Literature Review.
Orthop Res Rev
January 2025
Department of Oncology, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, People's Republic of China.
Background: Granular cell tumor (GCT) is a rare soft tissue tumor characterized by Schwann cell differentiation. While GCT can occur in any part of the body, it is less common in the lower limbs. We report a case of a giant atypical GCT located in the left thigh, the tumor was initially small and painless at the time of discovery but gradually grew to 17 cm over a two-year period.
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