Clinical Neuroscience

[The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation]

REMÉNYI Viktória1, INCZÉDY-FARKAS Gabriella1,2, GÁL Anikó1, BEREZNAI Benjámin1, PÁL Zsuzsanna3, KARCAGI Veronika4, MECHLER Ferenc5, MOLNÁR Mária Judit1

NOVEMBER 28, 2014

Clinical Neuroscience - 2014;67(11-12)

[Background - Mutations of both the PMP22 and EGR2 genes cause Charcot-Marie-Tooth (CMT) disease type 1. Deletion of the PMP22 gene, results in hereditary neuropathy with liability to pressure palsies. More publications exist about the interaction of PMP22 duplication and other CMTcausing gene mutations. In these cases the intrafamiliar discordant phenotypes draw the attention to the possible role of modifying genes. The gene-gene interactions between the PMP22 and EGR2 genes are not well understood. Case report - We report two brothers with late onset CMT1 due to a c. 1142 G>A (Arg381His) heterozygous substitution in the EGR2 gene. Additionally, the older brother with the less severe symptoms harbored the PMP22 gene deletion also. Conclusion - The coexistence of the two genetic alterations did not aggravate the clinical symptoms. Moreover, the PMP22 deletion appeared to have a beneficial modifying effect, thus implying potential gene-gene interaction of PMP22 and EGR2. PMP22 deletion may increase Schwann cells proliferation and compensate the dominant-negative effect of the Arg381His substitution in the EGR2 gene.]

AFFILIATIONS

  1. Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Hungary
  2. Zucker Hillside Hospital North Shore - LIJ Health System, Glen Oaks, NY, USA
  3. Department of Neurology, Semmelweis University, Hungary
  4. National Institute of Environmental Health, Department of Molecular Genetics
  5. Department of Neurology, University of Debrecen, Hungary

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NEMES Réka, MOLNÁR Levente, FÜLEP Zoltán, FEKETE Klára, BERHÉS Mariann, FÜLESDI Béla

[Neuromuscular disorders complicating sepsis and critical illness are not new and scarce phenomena yet they receive little attention in daily clinical practice. Critical illness polyneuropathy and myopathy affect nearly half of the patients with sepsis. The difficult weaning from the ventilator, the prolonged intensive care unit and hospital stay, the larger complication and mortality rate these disorders predispose to, put a large burden on the patient and the health care system. The aim of this review is to give an insight into the pathophysiological background, diagnostic possibilities and potential preventive and therapeutic measures in connection with these disorders to draw attention to their significance and underline the importance of preventive approach.]

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[The interactive neuroanatomical simulation and practical application of frontotemporal transsylvian exposure in neurosurgery]

BALOGH Attila, CZIGLÉCZKI Gábor, PÁPAI Zsolt, PREUL C. Mark, BANCZEROWSKI Péter

[Background and purpose - There is an increased need for new digital education tools in neurosurgical training. Illustrated textbooks offer anatomic and technical reference but do not substitute hands-on experience provided by surgery or cadaver dissection. Due to limited availability of cadaver dissections the need for development of simulation tools has been augmented. We explored simulation technology for producing virtual reality-like reconstructions of simulated surgical approaches on cadaver. Practical application of the simulation tool has been presented through frontotemporal transsylvian exposure. Methods - The dissections were performed on two cadaveric heads. Arteries and veins were prepared and injected with colorful silicon rubber. The heads were rigidly fixed in Mayfield headholder. A robotic microscope with two digital cameras in inverted cone method of image acquisition was used to capture images around a pivot point in several phases of dissections. Multilayered, high-resolution images have been built into interactive 4D environment by custom developed software. Results - We have developed the simulation module of the frontotemporal transsylvian approach. The virtual specimens can be rotated or tilted to any selected angles and examined from different surgical perspectives at any stage of dissections. Important surgical issues such as appropriate head positioning or surgical maneuvers to expose deep situated neuroanatomic structures can be simulated and studied by using the module. Conclusion - The simulation module of the frontotemporal transsylvian exposure helps to examine effect of head positioning on the visibility of deep situated neuroanatomic structures and study surgical maneuvers required to achieve optimal exposure of deep situated anatomic structures. The simulation program is a powerful tool to study issues of preoperative planning and well suited for neurosurgical training.]

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NAGY Helga, TAKÁTS Annamária, TÓTH Adrián, BERECZKI Dániel, KLIVÉNYI Péter, DÉZSI Lívia, DIBÓ György, VÉCSEI László, KOVÁCS Norbert, ASCHERMANN Zsuzsa, KOMOLY Sámuel, VARANNAI Lajos, ZEMLÉNYI Gyöngyi

[In the advanced Parkison’s disease (PD) the late complications of levodopa therapy have to be considered: motor and/or non-motor fluctuations with or without disturbing dyskinesias. The non-motor fluctuations often influence the quality of life (QoL) in a much more negative way compared with the motor symptoms. In the treatment of advanced PD there are several device-aided methods - deep brain stimulation, apomorphine pump, levodopa/carbidopa intestinal gel (LCIG ) - to improve the symptoms, the QoL, sometimes even in an individual, tailored custom form. The LCIG therapy was introduced in Hungary in 2011. Here we summarize the data of our patients: we have tested almost 60 patients and in 43 cases we have started this treatment. We analyze the duration of illness, levodopa therapy, motor and non-motor fluctuation of patients and present our experiences with the test phase and the chronic LCIG therapy via PEG/PEJ implantation. We paid attention to the surgery and device - depending side effects. Our experiences are similar to the international data. In patients selection „the right treatment, to the right patient, in the right time” is of importance.]

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[Objective - The majority of cranial defects are results of surgical intervention. The defect must be covered within resonable period of time usually after 4-6 week given the fact that the replacement of bone improve the brain circulation. Number of surgical techniques and materials are available to perform cranioplasty. Due to favorable properties we chosed ultra high molecular weight polyethylene as material. In this paper the authors show a procedure which allows tailored artificial bone replacement using state of art medical and engineering techniques. Methods - between 2004 and 2012, 19 patients were operated on cranial bone defect and a total of 22 3D custom- designed implants were implanted. The average age of patients was 35.4 years. In 12 patients we performed primary cranioplasty, while seven patients had the replacement at least once. Later the implants had to be removed due to infection or other causes (bone necrosis, fracture). All patients had native and bone- windowed 1 mm resolution CT. The 3D design was made using the original CT images and with design program. Computer controlled lathe was used to prepare a precise-fitting model. During surgery, the defect was exposed and the implant was fixed to normal bone using mini titanium plates and screws. All of our patients had control CT at 3, 6 and12 months after surgery and at the same time neurological examination. Results - Twenty-one polyethylene and one titanium implants were inserted. The average follow-up of the patients was 21.5 months, ranged from two to 96 months. We follow 12 patients (63.15%) more than one year. No intraoperative implant modifications had to be made. Each of the 22 implant exactly matched the bone defect proved by CT scan. No one of our patients reported aesthetic problems and we did not notice any kind of aesthetic complication. We had short term complication in three cases due to cranioplasty, subdural, epidural haemorrhage and skin defect. Conclusion - Polyethylene is in all respects suitable for primary and secondary cranioplasty. Combined with 3D CADCAM method excellent aesthetic and functional result was achieved. In our study no case of infection occured. Proper preoperative preparation is important.]

Clinical Neuroscience

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[The aim of the present study was a systematic path-analytical investigation between the effects of life events, dysfunctional attitudes and coping strategies in relation with the exhibited depressive and anxiety symptoms in patients with mental disorders. Methods - Self-report data of 234 patients from our outpatient psychotherapy unit were analyzed. Life events, dysfunctional attitudes, coping strategies as well as symptoms of anxiety and depression were assessed by self-administerd questionnaires. Statistical methods included structural equation modelling, which enables the estimation of the magnitude and strength of individual variables within an overarching casual model, thus yielding a complex view on the possible processes underlying the development of the clinical symptoms of anxiety and depression. Results - Our findings indicate that both the number of negative life events and their subjectively experienced intensity contributed to the increase of dysfunctional attitudes. The presence of dysfunctional attitudes decreased the use of problem-focused coping strategies and increased the use of emotion-focused coping strategies. The use of problem-focused coping decreased symptom occurrence and emotion-focused coping strategies increased the frequency of symptoms of anxiety and depression. Our findings suggest that dysfunctional need for achievement and perfectionism directly increase the probability of depressive symptom manifestation. The attitude of external locus of control showed a significant relationship with anxiety symptoms through emotion-focused coping strategies and directly as well. Conclusion - Restructuring dysfunctional attitudes and developing problem-focused coping strategies are an important part of psychotherapeutic interventions aiming to decrease anxiety and depressive symptoms.]

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