Postirradiation lumbosacral radiculopathy following seminoma treatment presenting as flaccid neuropathic bladder: a case report

<p>Abstract</p> <p>Introduction</p> <p>Postirradiation lumbosacral syndrome is a radiculopathy induced by radiation injury to the spinal cord. Its usual presentation is motor deficit and or sensory loss involving the lower limbs. Visceral involvement has not been reported previously.</p> <p>Case presentation</p> <p>We describe a case of severe hypotonic bladder caused by radiation-induced spinal cord injury following treatment of stage Ι testicular seminoma in a 38-year-old Caucasian man who had undergone radical orchidectomy and prophylactic paraaortic lymph node irradiation for stage Ι seminoma. Three years later he had clinical and urodynamic findings of hypotonic bladder. The magnetic resonance imaging results suggested a radiation-induced injury.</p> <p>Conclusion</p> <p>Such an unusual presentation of the syndrome of postirradiation lumbosacral radiculopathy can impose a clinical challenge to practicing clinicians. Future studies are required to further delineate the mechanism of injury and further management plans.</p

Endovascular Stent Treatment for Symptomatic Benign Iliofemoral Venous Occlusive Disease: Long-Term Results 1987–2009

Venous stenting has been shown to effectively treat iliofemoral venous obstruction with good short- and mid-term results. The aim of this study was to investigate long-term clinical outcome and stent patency. Twenty patients were treated with venous stenting for benign disease at our institution between 1987 and 2005. Fifteen of 20 patients (15 female, mean age at time of stent implantation 38 years [range 18–66]) returned for a clinical visit, a plain X-ray of the stent, and a Duplex ultrasound. Four patients were lost to follow-up, and one patient died 277 months after stent placement although a good clinical result was documented 267 months after stent placement. Mean follow-up after stent placement was 167.8 months (13.9 years) (range 71 (6 years) to 267 months [22 years]). No patient needed an additional venous intervention after stent implantation. No significant difference between the circumference of the thigh on the stented side (mean 55.1 cm [range 47.0–70.0]) compared with the contralateral thigh (mean 54.9 cm [range 47.0–70.0]) (p = 0.684) was seen. There was a nonsignificant trend toward higher flow velocities within the stent (mean 30.8 cm/s [range 10.0–48.0]) and the corresponding vein segment on the contralateral side (mean 25.2 cm/s [range 12.0–47.0]) (p = 0.065). Stent integrity was confirmed in 14 of 15 cases. Only one stent showed a fracture, as documented on x-ray, without any impairment of flow. Venous stenting using Wallstents showed excellent long-term clinical outcome and primary patency rate

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

peer reviewedFacioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a typical pattern of muscle weakness. Most patients with FSHD carry a large deletion in the polymorphic D4Z4 macrosatellite repeat array at 4q35 and present with 1-10 repeats whereas non-affected individuals possess 11-150 repeats. An almost identical repeat array is present at 10q26 and the high sequence identity between these two arrays can cause difficulties in molecular diagnosis. Each 3.3-kb D4Z4 unit contains a DUX4 (double homeobox 4) gene that, among others, is activated upon contraction of the 4q35 repeat array due to the induction of chromatin remodelling of the 4qter region. A number of 4q subtelomeric sequence variants are now recognised, although FSHD only occurs in association with three 'permissive' haplotypes, each of which is associated with a polyadenylation signal located immediately distal of the last D4Z4 unit. The resulting poly-A tail appears to stabilise DUX4 mRNAs transcribed from this most distal D4Z4 unit in FSHD muscle cells. Synthesis of both the DUX4 transcripts and protein in FSHD muscle cells induces significant cell toxicity. DUX4 is a transcription factor that may target several genes which results in a deregulation cascade which inhibits myogenesis, sensitises cells to oxidative stress and induces muscle atrophy, thus recapitulating many of the key molecular features of FSHD