SUMMARY The authors report the second case of a female with typical Lesch‐Nyhan syndrome. She exhibited athetoid movement, self‐mutilation, mental retardation and spasticity. Laboratory investigations revealed hyperuricaemia, hyperuricosuria and decreased erythrocyte hypoxanthine guanine phosphoribosyl transferase activity. She has normal female external genitalia and karyotype. Her parents are non‐consanǵuineous and there is no family member with gout, nephropathy or any psychoneurological disorder. To prevent self‐stimulation, it was necessary to fix the patient's upper extremities to the backrest of her wheelchair. The authors also describe an apparatus that limits elbow flexion. RÉSUMÉ Syndrome de Lesch‐Nyhan chez une fille Les auteurs rapportent le second cas d'un syndrome de Lesch‐Nyhan typique chez une fille. Elle présentait des mouvements athétosiques, une auto‐mutilation, un retard mental et une spasticité. Les recherches de laboratoire précisaient une hyperuricémie, une hyperuricosurie et une activité diminuée pour la transférase hypoxanthine guanine phosphoribosyl érythrocytaire. Elle avait un caryotype et des organes génitaux externes normaux de fille. Ses parents n'étaient pas consanguins et il n'y avait aucun membre de la famille avec une goutte, une néphropathie ou un trouble psychoneurologique. II fut nécessaire de fixer les bras de la fillette au dos du fauteuil roulant pour prévenir l'auto‐mutilation. Les auteurs décrìvent également un appareillage de limitation de la flexion des coudes. ZUSAMMENFASSUNG Eine Patientin mit Lesch‐Nyhan Syndrom Die Autoren berichten über eine zweite Patientin mit einem typischen Lesch‐Nyhan Syndrom. Sie zeigte athetotische Bewegungen, Selbstverstümmelung, geistige Retardierung und Spastik. Die Laboruntersuchungen ergaben Hyperurikämie, Hyperurikosurie und einen Mangel an Hypoxanthin‐Guanin‐phosporibosyl‐transferase. Sie hat ein normales äußeres Genitale und einen weiblichen Karyotyp. Ihre Eltern sind blutsverwandt und kein Familienmitglied leidet an Gicht, Nephropathie oder einer psycho‐neurologischen Erkrankung. Um die Selbstverstümmelung zu verhindern, war es notwending, die Arme der Patienten an der Rückenlehne das Rollstuhls zu fixieren. Die Autoren beschreiben außerden eine Vorrichtung, mit der die Beugung des Unterarms eingeschränkt wird. RESUMEN Enferma con síndrome de Lesch‐Nyhan Los autores aportan el segundo caso de una hembra con un típico síndrome de Lesch‐Nyhan. Tenía movimientos atetoides, automutilaciones, retraso mental y espasticidad. Las investigaciones de laboratorio revelaron una hiperuricemia, hiperuricosuria y una disminución en los eritrocitos de la actividad de la hipoxantina guanina fosforibosil transferasa. Tenía unos genitales externos normales y un cariotipo normal. Sus padres no eran consanguíneos y nadie en su familia padecia de gota, nefropatía ni ninguna alteración psiconeurológica. Para prevenir la áutomutilación, fue necesario fijar las extremidades superiores de la paciente al respaldo de su silla de ruedas. Los autores también de...
Arthroscopic meniscectomy has become a standard procedure for a complete discoid meniscus or for displacement of a meniscal bucket handle tear, although it is not always easy due to poor visualization of the cutting portion. The purpose of this study is to examine whether meniscal resection can be easily carried out in a swine model using the magnetic force-assisted procedure, whereby a metal clip is attached to the meniscal flap and moved by an external magnetic force. Four fresh-frozen porcine lower extremities were used (age range: about 6 months). After opening the knee joint, a flap tear in the medial and lateral menisci was created. Then a metal clip was attached to the edge of the tear. With 20 cm distance between the knee and the disk of the external magnetic device, the flap was observed under arthroscopy. At the highest magnitude of 0.6 T, the direction of the magnetic field was changed. As the direction of the magnetic field was changed to move laterally, medially, up, and down, so the edge of the meniscal flap was observed to move in corresponding directions. Thanks to now having a clear view of the cutting portion, it was evident that meniscal resection could be easily carried out. Although we need to develop special instruments such as Titanium scissors and forceps and an external magnet system for surgery, the current study may be the first step towards a new era in the field of magnet-assisted arthroscopy.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.