Severe Congenital Neutropenia is a rare condition characterized by a very low neutrophil count, which pre-disposes the affected child to recurrent bacterial infections. Treatment with granulocyte colony stimulating factor (G-CSF) has dramatically improved the prognosis of these children; but in patients who have become G-CSF refractory, hematopoeitic stem cell transplant is still the only effective curative treatment. We describe a patient who was unresponsive to escalating doses of G-CSF and underwent a successful reduced intensity conditioning, matched unrelated donor allograft resulting in cure.
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http://dx.doi.org/10.1002/pbc.21295 | DOI Listing |
Superficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular hyperplasia or proliferation, which develop in the surrounding tissues (cutaneous, subcutaneous, muscular, bone). Although benign, they are among the most severe of superficial malformations.
View Article and Find Full Text PDFTransfus Apher Sci
January 2025
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Objectives: Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy associated with severe deficiency in ADAMTS13. ADAMTS13 deficiency may be secondary to absent or dysfunctional protein production due to mutations in the ADAMTS13 gene (congenital TTP) or autoantibody-mediated clearance and/or inhibition (immune-mediated TTP). This autoimmunity may, albeit rarely, occur secondary to certain medications (eg, ticlopidine).
View Article and Find Full Text PDFPLoS One
January 2025
Institute of Endocrinology, Prague, Czech Republic.
Objectives: Hearing impairment can have major impacts on behavior, educational attainment, social status, and quality of life. In congenital hypothyroidism, the incidence of hearing impairment reaches 35-50%, while in acquired hypothyroidism there is a reported incidence of 25%. Despite this, knowledge of the pathogenesis, incidence and severity of hearing impairment remains greatly lacking.
View Article and Find Full Text PDFMultimed Man Cardiothorac Surg
January 2025
Congenital Heart Center, Division of Cardiovascular Surgery, Department of Surgery, University of Florida, Gainesville, FL, USA.
The Berlin Heart EXCOR is a pulsatile paracorporeal ventricular assist device (VAD) for neonates, infants, children and adults with congenital or acquired severe ventricular dysfunction. Berlin Heart EXCOR VADs are routinely used as either a bridge to a cardiac transplantation, or occasionally as a bridge to ventricular recovery. Our programmatic philosophy is to bridge neonates and infants with functionally univentricular ductal-dependent systemic circulation or functionally univentricular ductal-dependent pulmonary circulation who are at high risk for staged palliation because of important cardiac risk factors with a single-ventricle VAD (sVAD) as a bridge to a cardiac transplant.
View Article and Find Full Text PDFBMC Pulm Med
January 2025
Department of Respiratory Medicine, The Second Hospital of Jilin University, No. 4026 Yatai street, Changchun, 130041, Jilin, China.
Background: Ectopic thyroid tissue (ETT) is a rare congenital anomaly caused by the abnormal embryonic migration of thyroid tissue, leading to its presence outside its usual pretracheal location. This condition can lead to diagnostic challenges, especially when located within the airway, as it mimics other respiratory disorders such as asthma.
Case Presentation: We report the case of a 69-year-old man with endotracheal ETT presenting with severe dyspnea, and the lesion was initially suspected to be malignant.
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