Clinical spectrum of BICD2 mutations.

BACKGROUND AND PURPOSE: Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated. METHODS: We collected clinical data from 11 patients from five different families carrying mutations in BICD2. Genetic diagnosis was achieved using gene panel testing and skin biopsies were taken from two patients to study the epidermal nerve fiber density. RESULTS: In the studied patients, three new pathogenic mutations were detected as well as the already defined pathogenic p.Ser107Leu mutation. The most frequent clinical picture was characterized by lower-limb weakness in combination with foot deformities. One patient manifested clinical and electrophysiological sensory impairment, and the epidermal nerve fiber density study of another patient revealed the existence of a small-fiber neuropathy. Muscle MRI showed a common pattern of fat deposition including selective involvement of gluteus medius and minimus at the pelvic level, the anterior compartment of the thigh and the posterior compartment of the calf, with only mild or no involvement of the intrinsic foot muscles. CONCLUSIONS: We report three new pathogenic mutations in the BICD2 gene. Muscle MRI confirms the existence of a selective pattern of thigh and leg muscle involvement in SMALED2A, providing additional information regarding pelvic and foot muscles. Moreover, our results raise the possibility of sensory involvement in the disease.

[Prosthetic inguinal hernioplastics in day surgery. Which type of anesthesia? Our experience on 328 patients]. / Ernioplastica inguinale protesica in regime di day surgery. Quale anestesia? La nostra esperienza su 328 pazienti.

AIM: The aim of this paper is to compare local, spinal and general anesthesia with the tolerance of the patients as to pain and quality of life in the immediate postoperative period, and in the first week after the operation of prosthetic inguinal hernioplastics. METHODS: Three hundred and fifty eight patients underwent inguinal hernioplastes in day surgery regimen. The patients were divided into three groups according to the type of anesthesia and with the help of a schedule given to them. The parameters of the immediate postoperative period, such as pain nausea, vomit, cephalalgia, diuresis and the parameters in the following seven days after the operation, such as mobility, activity, pain, dejection and analgesic therapy, were compared. RESULTS: Collected data put into evidence a significative value, the mean pain value in the postoperative period, calculated on a numeric scale comprising numbers from 1 to 10. In patients who underwent a surgical procedure after a local anesthesia the mean pain value was 3.1. Comparison of postoperative symptoms highlights an asymptomatic condition in local or spinal anesthesia operated patients. Local anesthesia is generally more painful in the perioperative stage. Local anesthesia operated patients lament a longer duration of pain, in days, in the postoperative period and a longer administration of analgesics. No significance difference between mobility and quality of life has been noticed. CONCLUSION: The results of our study demonstrate that the comparison among the three types of anesthesia operated in day surgery is well balanced, as it was clearly expressed by the patients of each group. Every group was satisfied with its own anesthesia protocol.

Infection in acute burn wounds following the Bali bombings: a comparative prospective audit.

INTRODUCTION: Bacterial colonisation and invasive bacterial infection remain the major causes of mortality and morbidity following severe burn thus ongoing surveillance of patients and monitoring of infection facilitates early intervention to minimise the risk of sepsis. The circumstances of the Bali bombings in October 2002, provided an opportunity to analyse the ramifications of lengthy transfer times, delayed resuscitation and topical treatment, on the primary incidence of burn wound infection (BWI). METHOD: This prospective clinical audit investigated the primary incidence of BWI between the usual burn patients admitted to the Burn Unit at Royal Perth Hospital, Western Australia, and a number of survivors from the Bali bombings during a 3-month audit period in 2002. BWI was identified using the Peck et al. proposed definitions for the surveillance of burn wound infections. These include impetigo, surgical wound related infection, cellulitis and invasive infection of unexcised wounds. RESULTS: The incidence of primary BWI in the Bali-tourist group (68.2%) compared with the standard WA group (18.2%) was significant (p=0.001). CONCLUSION: Sensitive assessment criteria allowed for early identification of wound infection. A clinically significant difference in the Bali-tourist group is probably related to the circumstances of their injury.

Burns first aid information on the Internet.

The Internet is an increasingly important source of health-related information. However, the growth of the Internet and its use as a medical delivery tool should be viewed with caution. One of the key concerns is that although the volume of information is huge, the quality, accuracy and completeness of the information is questionable. The aim of this study was to evaluate burns first aid information on the Internet. The search term used was "first aid for burns" and the first 25 hits from each search engine were analysed by one of the observers. We gathered basic information on the web sites--such as the country of origin, language in which the information was offered, accessibility, relevance and whether the site was commercial, organisational or academic. Quality and technicality of the web sites were assessed and scored. The mean quality score was 4.7/15 (31.5%) The mean technical score was 6.1 of 12 (51.1%). When the total score was categorised by percentage, none of the web sites ranked in the excellent category, 1 was very good, 4 were good, 6 were fair and the majority, 36, were poor. Based on the quality score only, two web sites were in the excellent category and two were very good. For technicality one web site was excellent and three were very good. This study has shown first aid information on the Internet is largely of poor quality, that the technical information provided is inadequate and that the sites include a significant amount of grossly inaccurate information. The few sites that contain excellent technical information make up a very small proportion of what is available. Therefore, the average Internet user may not encounter these resources, instead gaining knowledge from sites of questionable value.

The TramEC "double cross" mesh: a new experience for repairing groin hernia. Our experience with 280 patients.

AIM: The purpose of this work is to provide a detailed account of a new technique for open prosthesis hernioplasty, a technique that makes use of a pre-shaped TramEC mesh made of polypropylene monofilament and created by the author. Specific descriptions are offered in regard to the shape of the mesh, the hernioplasty technique and the physiopathologic characteristics. METHODS: From 2000 to 2001, a total of 280 hernioplasties were performed with the TramEC technique. A follow-up of these patients was done after 1 week, after 3 months and after 1 year. An ecography of the groin was executed on all patients after 1 week in order to verify the presence of seromas. RESULTS: No recurrence was observed in 55.7% of patients examined after 1 year. Two patients (1.2%) experienced chronic but not debilitating pain. CONCLUSION: The author believes that with the TramEC mesh a precise overlap is formed between the mesh itself and the floor of the groin canal, thus creating the conditions required for avoiding empty spaces in order to favour the fibroplasias and amalgamation of tissues: basic parameters in avoiding recurrences. In addition, the mesh not only repairs the hernial defect but also strengthens the internal inguinal ring by virtue of its "double cross" structure. Because of the device's anatomical shape and the simplicity of the technique, we optimise the operation in terms of time and reproducibility.

Anti-Hepatitis C Virus Serology in Immune Thrombocytopenia: A Retrospective Analysis in 101 Patients.

Hepatitis C virus (HCV), an RNA virus, is known to be the major cause of post-transfusion non-A, non-B hepatitis. HCV can induce several expressions of autoimmunity, including both serological abnormalities and clinical disorders. The relationship between the HCV infection and anti-platelet autoimmunity has been occasionally described, but is still far from well-defined. We retrospectively analysed 101 serum specimens, collected between 1988 and 1994, from patients with immune thrombocytopenia (ITP) for the presence of anti-HCV antibodies. Eighty-seven patients were classified as having idiopathic, and 14 secondary ITP (4 systemic lupus erythematosus, 9 non-Hodgkin's lymphoma and 1 Evan's syndrome). Anti-HCV antibodies were determined by second generation tests (ELISA + RIBA). A specimen was considered positive for HCV antibodies in the presence of ELISA reactivity (sample optical density/cut-off > 1.00) accompanied by RIBA reactivity to at least one HCV specific antigen. 20 sera (20%) were positive, with a prevalence higher in secondary than in idiopathic ITP (43% vs. 16%, p < 0.05). No differences were found between anti-HCV positive and negative patients regarding gender, platelet count, platelet associated immunoglobulins, hepatitis B virus serology and liver enzyme profile. On the contrary, mean age was higher in the HCV positive vs HCV negative ones (58±18SD vs. 44±20yrs, p < 0.01), in keeping with the increasing prevalence of HCV infection with ageing. HCV positive patients, showed a poor response to treatment (platelet count lower than 50,000/µl after conventional medical therapy for immune thrombocytopenia) compared to anti-HCV negative ones, (50% versus 7.3%, p < 0.001). When we excluded patients who were exposed to risk factors for HCV infection after ITP diagnosis and before the serum collection, the prevalence of anti-HCV antibodies was not very different (17.6%) from that found in the series as a whole (19.8%). Our results seem to indicate that HCV infection may play a role in triggering several cases ITP, and moreover might constitute a negative prognostic factor for therapy response.