Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives.

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, underrecognized, systemic small vessel disease caused by heterozygous C-terminal truncating TREX1 mutations. The disease is characterized by vascular retinopathy, focal neurological complaints, cognitive decline and a wide range of systemic manifestations, including Raynaud's phenomenon, anemia and liver and kidney disease. Eventually, RVCL-S leads to premature death. The underlying pathological finding in RVCL-S is a nonatherosclerotic, amyloid-negative angiopathy involving small arteries and capillaries. However, the exact mechanisms by which the truncated TREX1 protein causes angiopathy remains unknown. Timely recognition of this disease is important to slow down and treat complications of the disorder, but also to prevent unnecessary (invasive) diagnostic or therapeutic procedures. As we move forward, translational research combining basic science advances and clinical findings as well as studies focusing on natural history following RVCL-S patients at different disease stages, will be critical to help elucidate RVCL-S pathophysiology. These studies will also provide the tools to identify appropriate biomarkers and therapeutic agent options for RVCL-S patients.

[Treatment of gunshot fractures of the lower extremity: Part 1: Incidence, importance, case numbers, pathophysiology, contamination, principles of emergency and first responder treatment]. / Behandlung von Schussfrakturen der unteren Extremität : Teil 1: Inzidenz, Bedeutung, eigene Zahlen, Pathophysiologie, Kontamination, Prinzipien der Notfall- und Erstbehandlung.

Gunshot wounds are rare in Germany and are mostly the result of suicide attempts or improper handling of weapons. The resulting injuries involve extensive tissue damage and complications which are thus unique and require a differentiated approach. As trauma centers may be confronted with gunshot wounds at any time, treatment principles must be understood and regularly reevaluated. Due to Bundeswehr operations abroad and the treatment of patients from other crisis regions a total of 85 gunshot wounds in 64 patients were treated between 2005 and 2011. In the majority of cases the lower extremities were affected and we were able to carry out treatment to preserve the extremities. In this article we report on our experiences and the results of treatment of gunshot wounds to the lower extremities. This part of the article deals with the epidemiology and pathophysiology of gunshot wounds to the lower extremities. By means of an evaluation of microbiological findings in a subgroup of patients involved in a civil war (n=10), the problem of multidrug resistant pathogen contamination, colonization and infection is discussed. In addition to a description of initial and emergency treatment of gunshot wounds, measures required for further treatment and decontamination are presented. Finally, the results are discussed with reference to the literature in this field.

[Treatment of gunshot fractures of the lower extremity: Part 2: Procedures for secondary reconstruction and treatment results]. / Behandlung von Schussfrakturen der unteren Extremität : Teil 2: Verfahren der sekundären Rekonstruktion und eigene Behandlungsergebnisse.

BACKGROUND: Gunshot wounds of the lower extremities are always serious injuries, especially in cases in which bone is affected. Contamination and extensive tissue damage can be life-threatening for the patient and severely affect the function of the extremity. Contamination and local infections with multidrug resistant pathogens are regularly encountered particularly in casualties evacuated from crisis regions. Treatment of this special type of injury, which differs in the form and extent from conventional high-energy trauma of the lower extremities, usually requires lengthy and extensive therapy algorithms in order to preserve the affected extremity. PATIENTS AND METHODS: Based on the results of 34 gunshot wounds of the lower extremities which were surgically treated in this department between 2005 and 2011, this article reports on procedures used for wound management, soft tissue reconstruction and restoration of bone continuity. This group included 18 patients with a total of 20 gunshot-related fractures, 40% of which affected the lower leg and 35% the thigh. The affected extremities could be salvaged in all cases. RESULTS: The therapeutic spectrum required for bone reconstruction after soft tissue coverage demonstrated in these case examples ranged from conventional osteosynthesis with or without local cancellous bone transplant with platelet-rich plasma, to healing in a fixator, bone resection and the Masquelet method, distraction osteogenesis using a fixator in order to restore continuity and definitive secondary extension using an intramedullary skeletal kinetic distractor (ISKD) nail. Out of 15 bullet fractures affecting large tubular bones 8 could be healed without any shortening, axis deviation or malrotation. In 7 cases definitive shortening by an average of 20 mm (minimum 10 mm and maximum 40 mm) was necessary. The average treatment time before full weight-bearing was achieved within tolerable pain limits was 66 weeks (minimum 4 weeks and maximum 267 weeks). Secondary osteitis and osteomyelitis following primary restoration was detected in only one case. CONCLUSION: These results show that the treatment of gunshot wounds of the lower extremities is time-consuming and extensive and requires the complete spectrum of modern trauma surgery. Despite the high risk of complications during treatment it is possible and feasible to apply procedures that preserve the extremities.

Laser-generated broadband antireflection structures for freeform silicon lenses at terahertz frequencies.

We present a flexible technology to generate broadband antireflection (AR) structures for the terahertz (THz) frequency range on planar and curved surfaces of silicon optics. Ultrashort laser pulses are used to ablate the surface to form a pattern of conical pillars with a period of 30 µm. These subwavelength structures act as an effective medium with gradual transition of the refractive index from air to silicon, which reduces the Fresnel reflection losses. The characterization with the THz time-domain spectroscopy system shows an AR effect for a frequency range of 0.1-1.5 THz with a maximum enhancement of the spectral amplitude by ca. 32% at 0.4 THz for planar surfaces. In addition, we demonstrate laser-generated AR structures on convex silicon lenses of both photoconductive emitter and detector devices. Here, the THz pulse amplitude can be increased by about 28%, and single frequencies even show an improvement of the spectral amplitude up to 58%.

The distribution of mislocalizations across fingers demonstrates training-induced neuroplastic changes in somatosensory cortex.

The somatosensory system has been shown to alter its cortical activation patterns in reaction to changes in the attended sensory input to certain body parts. Whether these modifications in the functional organization of the somatosensory cortex of humans also result in perceptual changes has rarely been investigated. Here we used near-threshold tactile stimuli to the center of the fingertips to evoke mislocalizations to fingers other than the stimulated. In healthy untrained subjects, the distribution of the mislocalizations from each of the fingers was different from a distribution expected if the subjects were purely guessing the position of the stimulus. The digits next to the stimulated one receive a higher number of mislocalizations than digits further away from the stimulated digits. This decrease can be accounted for by digit-overlapping receptive fields in combination with the sequential representation of the digits in the primary somatosensory cortex. In a second experiment subjects received 20 h of simultaneous stimulation of the left thumb and little finger in the context of a perceptual task. For both hands, the distribution of mislocalization from these fingers was analyzed at the beginning and the end of the training. For the left hand, the number of assigned mislocalizations to the most distant neighbor digit (i.e., the simultaneously stimulated digit in the training) increased while the number of mislocalizations toward the direct neighboring digit decreased with the training. This change did not occur in the untrained right hand, or in the untrained subjects. We conclude that the distribution of mislocalization to fingers other than the stimulated can be used to investigate perceptual changes paralleling training-induced modifications in the activation patterns of the somatosensory cortex.

Activity patterns of human somatosensory cortex adapt dynamically to stimulus properties.

Long-term synchronous tactile stimulation of two sites of the body results in integrated, overlapping cortical representations whereas asynchronous stimulation leads to segregated representations. To investigate the cortical capacity to adapt dynamically to stimulation properties 22 subjects were stimulated at digits 1, 3 and 5 of both hands in either random or fixed order. Changes in the functional organization of the somatosensory cortex were inferred by neuromagnetic source analysis based on somatosensory evoked magnetic fields. Compared to the stimulation in random sequence, the stimulation in fixed order revealed a reduction in distance between the cortical representation of D1 and D3. We conclude that the pattern of activation in the somatosensory cortex adapts dynamically to the spatio-temporal characteristics of the stimuli.

[Elastosis perforans serpiginosa in Down syndrome]. / Elastosis perforans serpiginosa bei Down-Syndrom.

Elastosis perforans serpiginosa can arise as a rare complication in patients with Down syndrome. It is one of the primary perforating disorders characterized by transepithelial elimination of abnormal elastic fibers. This may reflect an immunological reaction aquist elastic fibers. We describe a 40-year-old woman with Down's syndrome whose skin lesions were histologically mistaken for lupus vulgaris for a long time.

Oral transmucosal fentanyl citrate for premedication in paediatric outpatients.

Two doses (10-15 micrograms.kg-1, Group I, and 15-20 micrograms.kg-1, Group II) of oral transmucosal fentanyl citrate (OTFC) plus a placebo (Group III) were evaluated for premedication in 105 healthy children, aged 2 to 13 yr, undergoing short (less than 1 hr) operations in the hospital short-stay unit. The study was randomized and double-blinded and 91 of the 105 children also received droperidol, 25 micrograms.kg-1 IV, after induction of anaesthesia with halothane and N2O in oxygen. Both doses of OTFC produced significantly greater sedation (first present at 20 min) and anxiolysis (first present in Group I at 40 min) than the placebo. Recovery times were similar in the three groups and analgesic requirements in the recovery room were significantly lower in Group I than Group III. Both OTFC groups took longer to tolerate oral fluids in the postoperative discharge unit than the placebo group and this caused patients in Group I to have a delayed discharge from the hospital compared to Group III. Preoperative pruritus occurred significantly more frequently in Groups I and II (58 and 76 per cent, respectively) than Group III (23 per cent). Although the incidences of nausea and vomiting tended to be slightly higher in the OTFC groups in the preoperative holding and postoperative discharge units, the differences among the groups were not statistically significant. Likewise droperidol did not reduce the incidence of postoperative nausea or vomiting. The data indicate that OTFC may be a safe and effective premedicant in paediatric patients having short operations but delays discharge from the hospital (by 30-50 min) by delaying the time patients tolerate fluids early after operation.