Purpose: To evaluate the incidence, therapy results, complications and radiologic workup of operatively treated congenital disorders of the hand and wrist in a large university center during a 10-year period.
Methods: The institutional database was retrospectively analysed for patients with congenital disorders of the hand and wrist treated operatively during a 10-year period (1998-2007). Disorders were classified according to Van Schoonhoven into 11 different entities. For each entity the incidence, the patients' age at the time of operation, the pre- and postoperative clinical and radiological workup and the frequency of complications and reoperations were evaluated.
Results: A total of 278 patients was treated operatively for congenital disorders of the hand and wrist with syndactyly being present in 112, thumb hypoplasia in 15, polydactyly in 11, radial clubhand in 7, radioulnar synostosis in 6, clinodactyly in 6, thumb duplication in 6, brachydactyly in 4 and macrodactyly in 4 cases. Patients' age at the time of operation varied substantially between the different entities with a mean age between 0.9 and 6.2 years. There were 9 complications (3%, n = 278)--all of them infections. There were 28 reoperations (10%, n = 278), 13 of them (5%, n = 278) due to reoccurring webs in syndactyly.
Conclusion: Congenital disorders of the hand and wrist include various rare diseases with syndactyly and thumb hypoplasia being the most frequent entities. As a rule, diagnosis is obtained clinically. Radiologic workup typically consists of plain radiography. Complications are rare, whereas reoperations are frequent, mostly due to reoccurring webs in syndactyly.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.ejrad.2010.10.023 | DOI Listing |
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: This study aimed to identify a novel recombinant adeno-associated virus (rAAV) capsid variant that can widely transfect the deep retina through intravitreal injection and to assess their effectiveness and safety in gene delivery.
Methods: By adopting the sequences of various cell-penetrating peptides and inserting them into the capsid modification region of AAV2, we generated several novel variants. The green fluorescent protein (GFP)-carrying variants were screened following intravitreal injection.
Eur J Pediatr
January 2025
Neonatology Department. Hospital Sant Joan de Déu, Center for Maternal Fetal and Neonatal Medicine. Neonatal Brain Group, Universitat de Barcelona. Hospital Clínic, Universitat de Barcelona. BCNatal - Barcelona, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Purpose: Perinatal hypoxic-ischemic encephalopathy (HIE) is a significant cause of neonatal brain injury. Therapeutic hypothermia (TH) is the standard treatment for term neonates, but its safety and efficacy in neonates < 36 weeks gestational age (GA) remains unclear. This case series aimed to evaluate the outcomes of preterm infants with HIE treated with TH.
View Article and Find Full Text PDFCancer Chemother Pharmacol
January 2025
Service de Génomique des Tumeurs et Pharmacologie, Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris, Paris, France.
The enzyme dihydropyrimidine dehydrogenase (DPD) is the primary catabolic pathway of fluoropyrimidines including 5 fluorouracil (5FU) and capecitabine. Cases of lethal toxicity have been reported in cancer patients with complete DPD deficiency receiving standard dose of 5FU or capecitabine. DPD is encoded by the pharmacogene DPYD in which more than 200 variants have been identified.
View Article and Find Full Text PDFRadiol Cardiothorac Imaging
February 2025
From the Department of Radiology, Narayana Institute of Cardiac Sciences, Bangalore 560099, India (S.G., V.R.); and Department of Radiology, Amrita Institute of Medical Sciences and Research Centre, Kochi, India (R.R.).
Cardiac MRI is the reference standard for identifying and evaluating myocardial pathologic conditions. Late gadolinium enhancement characteristics provide an excellent guide in classifying disease and triaging patients. Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is an uncommon congenital anomaly.
View Article and Find Full Text PDFJ Clin Invest
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
ATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as the monogenic cause of X-linked α-thalassemia mental retardation (ATR-X) syndrome. Affected individuals display a variety of developmental abnormalities and skeletal deformities.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!