The clinical, radiological and surgical findings of 56 patients with congenital malformations of the craniovertebral junction who underwent surgical intervention in the Department of Neurosurgery, Hacettepe University Medical School were reviewed. The anomalies were classified according to their embryonic origin. Forty-two cases of the series were major abnormalities formed by the combination of more than one germ layer.
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http://dx.doi.org/10.1007/BF01808763 | DOI Listing |
Neurosurg Rev
January 2025
Department of Neurosurgery, Pamukkale University School of Medicine, Kim Burchiel Gamma Knife Center, Denizli, Türkiye, Turkey.
This study aims to demonstrate the effect of gamma knife radiosurgery (GKRS) on symptoms, hemorrhage rates, and histopathological changes in patients with cavernous malformations (CMs), regardless of whether the symptomatic lesions are hemorrhagic. This single-center retrospective study evaluated symptomatic patients with single CMs treated with GKRS between 2016 and 2023. The patients' demographic data, presenting symptoms, GKRS radiation dose, complications developed during follow-up (hemorrhage, radiotoxicity), the rate of symptom improvement, and histopathological changes of surgically removed CMs were recorded.
View Article and Find Full Text PDFEur J Pediatr
January 2025
Service de Physiologie Pédiatrique-Centre du Sommeil-CRMR Hypoventilations Alvéolaires Rares, INSERM NeuroDiderot, Université Paris-Cité, AP-HP, Hôpital Robert Debré, Paris, France.
Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.
View Article and Find Full Text PDFEur Arch Otorhinolaryngol
January 2025
Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.
Introduction: First branchial cleft anomalies (FBCA) are rare congenital head and neck malformations, often subject to incorrect diagnosis and treatment. We present our experience with FBCA, focusing on clinical presentation, diagnosis, perioperative relation to the facial nerve, surgical approach, complications and patient satisfaction.
Methods: A consecutive cohort of 16 patients undergoing surgical treatment for FBCA between 1999 and 2021 was analyzed.
Multimed 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 PDFFront Immunol
January 2025
Department of Dermatology, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Institue of Psoriasis, Tongji University School of Medicine, Shanghai, China.
Background: Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular psoriasis variant refractory to many conventional treatments. The eruption typically occurs after local trauma or infection; other etiologies include neural, inflammatory, and genetic causes. Herein we reported a single case of a 64-year-old patient with ACH that was successfully treated with spesolimab for 19 weeks.
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