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Spasticity affects up to 80% of individuals with cerebral palsy and can lead to pain and difficulties with performing activities of daily living. If left untreated, spasticity can progress to contracture and neuro-orthopedic deformities. Cryoneurolysis is an emerging and mini-invasive ultrasound-guided technique that causes secondary axonotmesis of peripheral nerves through the formation of an ice ball and may result in months to years of improved range of motion and reduced pain in patients with spasticity.

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Differential genes expression of immune tolerance induction in hemophilia A: an exploratory RNA-seq test from a Chinese hemophilia comprehensive care centre.

Transl Pediatr

December 2024

Department of Hematology Center, National Key Clinical Discipline of Pediatric Hematology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Background: The production of inhibitors is a serious complication that can arise during coagulation factor replacement therapy for hemophilia A (HA). The primary therapeutic strategy to eliminate inhibitors is immune tolerance induction (ITI), which is known to be an extremely challenging, prolonged, and costly treatment. With the widespread use of RNA sequencing (RNA-seq) to analyze differentially expressed genes (DEGs) across various treatment outcomes, there is potential for predicting ITI outcomes.

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Avascular necrosis (AVN) of the femoral head accounts for up to 10% of all total hip arthroplasties performed annually. Typically associated with intravascular coagulation, AVN is extremely rare in patients with bleeding disorders such as hemophilia B. In this report, we describe the therapeutic management of a 46-year-old male with hemophilia B, presenting with chronic left hip pain and AVN of the femoral head.

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Hemophilia A is a clotting disorder due to factor VIII deficiency, leading to prolonged bleeding. Acquired hemophilia A results from the immune system attacking factor VIII, typically occurring later in life. Factor V Leiden is a genetic mutation causing abnormal blood clot formation, primarily in veins.

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Acquired factor V inhibitor in a case of pediatric venous thrombosis.

Res Pract Thromb Haemost

January 2025

Department of Pediatric Hematology, Innovative Hematology, Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana, USA.

Background: The development of acquired factor (F)V with inhibitor (AFVwI) is rare, resulting mainly in bleeding complications, although sporadic cases of thrombosis in adults have been reported.

Key Clinical Question: How do you diagnose and manage a pediatric case of acute deep venous thrombosis associated with the concurrent finding of AFVwI?

Clinical Approach: A 13-year-old female with Crohn's Disease and May-Thurner anatomy developed extensive deep venous thrombosis of the left lower extremity, complicated by the finding of AFVwI, discovered during the evaluation of a prolonged prothrombin time and a low FV activity. Anticoagulation was initiated with low-molecular-weight heparin followed by a direct oral anticoagulant, rivaroxaban, without any complications.

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