Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

SPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HSP), with only six SPG8 families described so far. Our purpose was to screen for KIAA0196 (SPG8) mutations in AD-HSP patients and to investigate their phenotype. Extensive family investigation was performed after positive KIAA0196 mutation analysis, which was part of an on-going mutation screening effort in AD-HSP patients. A novel pathogenic KIAA0196 mutation p.(Gly696Ala) was identified in two AD-HSP patients, who subsequently were shown to belong to a single large Dutch pedigree with more than 10 affected family members. The phenotype consisted of a pure HSP with ages at onset between 20 and 60 years, distally reduced vibration sense in the legs in all, and urinary urgency in seven out of 10 patients. Frequent features were exercise- or emotion-induced increase of spasticity and gait problems and chronic nonspecific lower back and joint pains. We have identified a fourth pathogenic KIAA0196 mutation in a Dutch HSP-family, the seventh family worldwide, with a less severe clinical course than described before.     

Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA

We report the application of DGGE and SSCA for the identification of point mutations causing α-thalassemia. The α-globin genes were amplified in three overlapping fragments of 250 bp (I), 540 bp (II), and 600 bp (III), respectively. Fragments II and III were analyzed by DGGE, while fragments I and II were analysed by SSCA. A panel of seven previously identified mutations was employed to test the combined DGGE/SSCA strategy: 5/5 and 6/7 mutations were detected by SSCA and DGGE, respectively. The same approach has also led to the identification of eight disease-causing mutations in a sample of 18 presumed non-deletional α-thalassemia carriers. During this pilot study, two novel mutations as well as three new polymorphisms were found. The combined application of SSCA and DGGE allows the rapid identification of mutations responsable for α-thalassemia and abnormal globin chain variants. Moreover, it will prove extremely useful for pre- and postnatal diagnosis and in screening programs for non-deletional α-thalassemias. © 1996 Wiley-Liss, Inc.     

Biomechanical and immunohistochemical analysis of high hydrostatic pressure-treated Achilles tendons

Background Reconstruction of bone defects caused by malignant tumors is carried out in different ways. At present, tumor-bearing bone segments are devitalized mainly by extracorporeal irradiation or autoclaving, but both methods have substantial disadvantages. In this regard, high hydrostatic pressure (HHP) treatment of the bone is a new, advancing technology that has been used in preclinical testing to inactivate normal cells and tumor cells without altering the biomechanical properties of the bone. The aim of this study was to examine the biomechanical and immunohistochemical properties of tendons after exposure to HHP and to evaluate whether preservation of the bony attachment of tendons and ligaments is possible. Methods For this, 19 paired Achilles tendons were harvested from both hindlimbs of 4-month-old pigs. After preparation, the cross-sectional area of each tendon was determined by magnetic resonance imaging (MRI). For each animal, one of the two tendons was taken at random and exposed to a pressure of 300 MPa (n = 9) or 600 MPa (n = 10). Results The contralateral tendon served as an untreated control. The biomechanical properties of the tendons remained unchanged with respect to the tested parameters: Young's modulus (MPa) and tensile strength (MPa). This finding is in line with immunohistochemical labeling results, as no difference in the labeling pattern of collagen I and versican was observed when comparing the HHP group (at 600 MPa) to the untreated control group. Conclusions We anticipate that during orthopedic surgery HHP can serve as a novel, promising methodical approach to inactivate Achilles tendon and bone cells without altering the biomechanical properties of the tendons. This should allow one to preserve the attachment of tendon and ligaments to the devitalized bone and to facilitate functional reconstruction.     

Stingray envenomation: a retrospective review of clinical presentation and treatment in 119 cases

Stingray stings are common along coastal regions of this country and the world. The tail of the stingray contains a barbed stinger attached to a venom gland and contained within an integumentary sheath. During a sting, the stinger and sheath can become embedded in the soft tissue of the victim, and venom is injected into the wound. Stingray venom most often causes severe pain on contact, although the exact mechanism of toxicity is not certain. Hot water immersion of the stung extremity has been reported to be effective in relieving pain associated with the envenomation, but large studies of this therapy have not been performed. We retrospectively reviewed stingray stings presenting to our Emergency Department (ED) over an 8-year period. Cases were divided into acute (group 1, within 24 h of the sting) and subacute (group 2, 24 h or more after the sting) presentations. Charts were abstracted for information concerning the victim's history, physical examination, treatment, diagnostic imaging, and outcome, including the effectiveness of hot water immersion as analgesia, and use of antimicrobials. A total of 119 cases were identified and abstracted, 100 in group 1 and 19 in group 2. Of the group 1 patients initially treated with hot water immersion alone, 88% had complete relief of pain within 30 min without administration of any other analgesic. In the patients who initially received a dose of analgesic along with hot water immersion, none required a second dose of analgesics and all had complete pain relief before discharge. There were no adverse effects (such as thermal burns) with this therapy. Analysis of infectious complications in group 1 patients demonstrated a significant number of patients returning to the ED with wound infections when prophylactic antibiotics were not administered at initial presentation. Our findings suggest that hot water immersion was effective in decreasing or eliminating the pain associated with stingray envenomation in our series. Due to the high potential for bacterial contamination in these puncture wounds, standard antibiotic prophylaxis may be prudent. Although stingray barbs can be radio-opaque, radiography in our series failed to detect barbs or other foreign bodies in stung extremities, although no barbs or other stinger material were found on inspection of wounds.     

Neurologisches Ergebnis und allgemeiner Gesundheitszustand bei Langzeitüberleben nach außerklinischer kardiopulmonaler Reanimation

Notfall + Rettungsmedizin - Für Deutschland liegen nur wenige Daten zum Gesundheitszustand und Langzeitüberleben nach außerklinischer Reanimation vor. Die vorliegende Studie...     

Colorectal liver metastases: Current management and future perspectives

The liver is the commonest site of metastatic disease for patients with colorectal cancer, with at least 25% developing colorectal liver metastases (CRLM) during the course of their illness. The management of CRLM has evolved into a complex field requiring input from experienced members of a multi-disciplinary team involving radiology (cross sectional, nuclear medicine and interventional), Oncology, Liver surgery, Colorectal surgery, and Histopathology. Patient management is based on assessment of sophisticated clinical, radiological and biomarker information. Despite incomplete evidence in this very heterogeneous patient group, maximising resection of CRLM using all available techniques remains a key objective and provides the best chance of long-term survival and cure. To this end, liver resection is maximised by the use of downsizing chemotherapy, optimisation of liver remnant by portal vein embolization, associating liver partition and portal vein ligation for staged hepatectomy, and combining resection with ablation, in the context of improvements in the functional assessment of the future remnant liver. Liver resection may safely be carried out laparoscopically or open, and synchronously with, or before, colorectal surgery in selected patients. For unresectable patients, treatment options including systemic chemotherapy, targeted biological agents, intra-arterial infusion or bead delivered chemotherapy, tumour ablation, stereotactic radiotherapy, and selective internal radiotherapy contribute to improve survival and may convert initially unresectable patients to operability. Currently evolving areas include biomarker characterisation of tumours, the development of novel systemic agents targeting specific oncogenic pathways, and the potential re-emergence of radical surgical options such as liver transplantation.     

Akzidentelle urbane Unterkühlung

In emergency medicine accidental hypothermia (<35 degrees C) is a common epiphenomenon of many medical conditions. In contrast, severe hypothermia (<28 degrees C) occurs very seldom and presents a difficult medical situation. Here we present a female patient with severe urban hypothermia (core temperature of 20.7 degrees C) and circulatory arrest. An overview of the emergency treatment, rewarming strategy with extracorporeal circulation and the clinical course will be given. The survival of the patient and the favorable neurological outcome will be discussed considering the current literature. Due to the paucity of treatment guidelines or clear prognostic criteria of withholding or withdrawing treatment in severe hypothermia, the decision of prolonged resuscitation and rewarming strategy is solely dependent on the individual judgement and medical experience of the physician. The positive clinical outcome which can be gleaned from case reports or single retrospective studies should encourage the emergency physician to selectively rewarm a severe hypothermic patient with extracorporeal circulation under prolonged CPR.     

Kardiopulmonale Reanimation bei schwerer Hypothermie

Background

Although recent findings show that the routine use of mechanical resuscitation devices in out-of-hospital cardiac arrest showed no benefit, such devices have found widespread use by emergency services in recent years.

Method

Case report and review of the literature.

Objective

In the 2015 Guidelines for Resuscitation from the European Resuscitation Council (ERC), the use of mechanical resuscitation devices is only described for specific situations. Starting with a case report, we discuss possible meaningful scenarios for use, taking into consideration the current literature and resuscitation guidelines.

     

Out-of-hospital cardiopulmonary resuscitation with the AutoPulse system: a prospective observational study with a new load-distributing band chest compression device

OBJECTIVE: To evaluate the effectiveness, the safety, and the practicability of the new automated load-distributing band resuscitation device AutoPulse in out-of-hospital cardiac arrest in the midsized urban emergency service of Bonn city. STUDY DESIGN: Prospective, observational study. METHODS: Measurements of effectiveness were the proportion of patients with a return of spontaneous circulation (ROSC) and end-tidal carbon-dioxide (etCO(2)) values during cardiopulmonary resuscitation (CPR). The indications of safety was the proportion of injuries caused by the device, and practicability was assessed by the measurement of the time taken to setup the AutoPulse. RESULTS: Forty-six patients were resuscitated with the device from September 2004 to May 2005. In 25 patients (54.3%) ROSC was achieved, 18 patients (39.1%) were admitted to intensive care unit (ICU), and 10 patients (21.8%) were discharged from ICU. End-tidal capnography showed significantly higher etCO(2) values in patients with ROSC than in patients without ROSC. The mean time to setup the AutoPulse was 4.7+/-5.9 min, but activation of the device after arrival at the scene in 2 min or less was possible in 67.4%. No injuries were detected after use of the AutoPulse-CPR. CONCLUSION: The AutoPulse system is an effective and safe mechanical CPR device useful in out-of-hospital cardiac arrest CPR. Automated CPR devices may play an increasingly important role in CPR in the future because they assure continuous chest compressions of a constant quality.