Investigation of Genetic Polymorphisms Related to the Outcome of Radiotherapy for Prostate Cancer Patients

The purpose of this study was to evaluate the association between ATM, TP53 and MDM2 polymorphisms in prostate cancer patients and morbidity after radiotherapy. The presence of ATM (rs1801516), TP53 (rs1042522, rs1800371, rs17878362, rs17883323, and rs35117667), and MDM2 (rs2279744) polymorphisms was assessed by direct sequencing of PCR fragments from 48 patients with histologically proven prostate adenocarcinoma and treated with external beam radiation. The side effects were classified according to the Radiation Therapy Oncology Group (RTOG) score. The results showed no association between clinical characteristics and the development of radiation toxicities (P > 0.05). The C>T transition in the position 16273 (intron 3) of TP53 (rs35117667) was significantly associated with the risk of acute skin toxicity (OR: 0.0072, 95% CI 0.0002–0.227, P = 0.003). The intronic TP53 polymorphism at position 16250 (rs17883323) was associated with chronic urinary toxicity (OR: 0.071, 95%CI 0.006–0.784, P = 0.032). No significant associations were found for the remaining polymorphisms (P > 0.05). The results show that clinical characteristics were not determinant on the developing of radiation sensitivity in prostate cancer patients, and intronic TP53 polymorphisms would be associated with increased acute and chronic radiation toxicities. These observations corroborate the importance of investigating the genetic profile to predict adverse side effects in patients undergoing radiotherapy.     

A case of myopericarditis associated to Campylobacter jejuni infection in the Southern Hemisphere

Myopericarditis is an infrequent complication of acute diarrheal illness due to Campylobacter jejuni, and it has been mainly reported in developed nations. The first case detected in Chile – an upper-middle income country –, that is coincidental with the increasing importance of acute gastroenteritis associated to this pathogen, is described. Recognition of this agent in stools requires special laboratory techniques not widely available, and it was suspected when a young patient presented with acute diarrhea, fever, and chest pain combined with electrocardiogram (EKG) abnormalities and elevated myocardial enzymes. C. jejuni myopericarditis can easily be suspected but its detection requires dedicated laboratory techniques.     

Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse

We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine–Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene. The patient never walked independently and was wheelchair bound by age 18 years. Her parents and son were unaffected. Her peroneal muscular atrophy syndrome presented with scoliosis, bilateral hearing loss, pes planus, distal sensory loss and generalized areflexia. A nerve biopsy at age 26 years showed nerve hypertrophy, myelin uncompaction, defects in mesaxon formation, Schwann cells with irregular outline, axons incompletely surrounded by Schwann cell processes and very short internodes interspersed with denuded axons. Large, mostly denervated, onion bulb formations were also prominent. These findings indicate that demyelination continues undeterred in the advanced stages of the disease and is followed by remyelination attempts that recapitulate the early defects in Schwann cell/axon interaction seen in the Trembler-J mouse, which carries a mutation in the same transmembrane domain.     

Current update on the diagnosis and management of head and neck soft tissue sarcomas

Head and neck soft tissue sarcomas are a group of rare heterogeneous tumours arising from embryonic mesoderm. They comprise <1% of all head and neck malignancies and 5–15% of all sarcomas with most head and neck sarcomas arising from soft tissues. Although rare, they are associated with both high recurrence and mortality rates. We review the current management of head and neck soft tissue sarcomas.     

Urticaria and dermographism in patients with adult-onset Still’s disease

Adult-onset Still’s disease (AOSD) patients typically present with arthralgia, fever, lymphadenopathy and a transient salmon maculopapular rash. Only approximately 25 cases of AOSD with urticaria were described in the literature. In this article, the authors report three additional cases of AOSD with urticarial and dermographic lesions who had a good clinical response to glucocorticoid and antihistamines. A review of the literature concerning this issue is also herein written.