Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A

Objectives: A prospective study was performed to assess the intermediate and long-term efficacy of intralesional cidofovir therapy associated with surgical excision in laryngeal papillomatosis in adults. Methods: Endoscopy with intralesional injection of cidofovir 5 mg/mL was performed 3 times at 4-week intervals. The concentration was later increased to 7.5 mg/mL and the interval between injections shortened to 2 weeks. Further treatment was performed at 3 or 6 months, depending on the evolution of the papillomas. After complete remission, the treatment was stopped and the patients were reviewed every 6 months. Results: Nineteen patients completed the protocol, with a mean of 4.5 injections each. Complete remission was obtained in 17 cases (89%) after a mean of 3.8 procedures. Remission was stable after a mean follow-up of 24 months (range, 8 to 57 months). With higher cidofovir concentrations at shorter intervals, patients needed fewer injections to achieve remission (mean, 2.1 versus 4.7 injections). Conclusions: The effectiveness of intralesional cidofovir therapy in adult-onset recurrent respiratory papillomatosis was impressive. Once obtained, complete remission was stable on intermediate or long-term follow-up. The concentration and the interval between injections seemed to influence the number of injections necessary to achieve remission.

Download Full-text

Treatment of focal hyperhidrosis with botulinum toxin type A: long-term follow-up in 61 patients

British Journal of Dermatology ◽

10.1046/j.1365-2133.2001.04349.x ◽

2001 ◽

Vol 145 (2) ◽

pp. 289-293 ◽

Cited By ~ 78

Author(s):

P. Schnider ◽

E. Moraru ◽

H. Kittler ◽

M. Binder ◽

G. Kranz ◽

...

Keyword(s):

Botulinum Toxin ◽

Botulinum Toxin Type A ◽

Type A ◽

Botulinum Toxin Type ◽

Long Term Follow Up ◽

Focal Hyperhidrosis

Download Full-text

Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia

10.20944/preprints202105.0268.v1 ◽

2021 ◽

Author(s):

Dror Paley

Keyword(s):

Skeletal Maturity ◽

Limb Lengthening ◽

Adult Onset ◽

Juvenile Onset ◽

Normal Height ◽

Height Range ◽

Long Term Follow Up ◽

Males And Females

Extensive limb lengthening (ELL) was completed in 75 patients: 66 achondroplasia and 9 hypochondroplasia. The average lengthening was 27cm for achondroplasia (12-40cm) and 17cm for hypochondroplasia (range 10-25cm). There were 48 females and 27 males. Lengthening was done either by 2-segment (14 patients; both tibias and/or both femurs) or by serial 4-segment lengthenings (64 patients; both femurs and tibias same time). Most patients also had bilateral humeral lengthening. Lengthenings were either juvenile-onset (31), adolescent-onset (38) or adult-onset (6). The average age at final follow-up was 26 years old (range 17-43 years). There were few permanent sequelae of complications. The most serious was one paraparesis. All patients returned to activities of normal living and only one was made worse by the surgery (paraparesis). This is the first study to show that ELL can lead to increase of height into the normal height range. Previous studies showed mean increases of height of up to 20cm, while this study consistently showed an average increase of 30 cm (range 15-40cm) for juvenile-onset and increase of 26cm (range 15-30cm) for adolescent-onset. This results in lower normal height at skeletal maturity for males and females. The adult-onset had a mean increase of 16.8 (range 12-22cm). This long-term follow-up study shows ELL can be done safely even with large lengthenings and that 4-segment lengthening may offer advantages over 2-segment lengthening. While the majority of cases were performed using external fixation, implantable limb lengthening promises to be an excellent alternative and perhaps an improvement.

Download Full-text