Pletencové svalové dystrofie (LGMD, Limb-Girdle Muscular Dystrophies) jsou klinicky a geneticky heterogenní skupinou onemocnění. Doposud bylo identifikováno 29 genů asociovaných s LGMD, které rozdělují LGMD do 29 subtypů. Asi 10 % LGMD má dominantní typ dědičnosti, 90 % LGMD recesivní typ dědičnosti. Jednotlivé subtypy LGMD nesdílejí společný patofyziologický mechanismus onemocnění, který by je odlišoval od jiných forem svalových dystrofií. Právě naopak LGMD jsou asociovány s geny, jejichž proteinové produkty mají různou funkci a buněčnou lokalizaci. Molekulárně genetická diagnostika LGMD je vzhledem k množství asociovaných genů poměrně komplikovaný proces, který je v současné době založen na technikách sekvenování nové generace (NGS, Next-Generation Sequencing) jak na úrovni panelu vybraných genů, tak na úrovni exomu.

Limb-Girdle Muscular Dystrophies (LGMD) are a clinically and genetically heterogeneous group of diseases. To date, 29 genes associated with LGMD have been identified that divide LGMD into 29 subtypes. About 10 % of LGMD have a dominant type of inheritance, 90 % of LGMD have a recessive type of inheritance. The individual LGMD subtypes do not share a common pathophysiological mechanism of the disease that would distinguish them from other forms of muscular dystrophies. On the contrary, LGMD are associated with genes whose protein products have different functions and cellular localizations. Due to the number of associated genes, molecular genetic diagnosis of LGMD is a relatively complicated process, which is currently based on Next-Generation Sequencing (NGS) techniques both at the panel level of selected genes and at the whole exom level.

• MeSH
• Molecular Diagnostic Techniques methods   MeSH
• Genetic Testing MeSH
• Humans MeSH
• Neuromuscular Diseases * diagnosis   genetics   MeSH
• Muscular Dystrophies, Limb-Girdle * diagnosis   genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

Literatura

• MeSH
• Music * MeSH
• Creativity * MeSH
• Magnetic Resonance Imaging methods   MeSH
• Publication type
• Interview MeSH

• About
• Limb, Charles J Authority

• MeSH
• Upper Extremity physiology   MeSH
• Joints physiology   MeSH
• Elbow physiology   MeSH
• Musculoskeletal Physiological Phenomena MeSH
• Pronation physiology   MeSH
• Shoulder physiology   MeSH
• Hand physiology   MeSH
• Supination physiology   MeSH
• Wrist physiology   MeSH
• Publication type
• Atlas MeSH
• Textbook MeSH

• Conspectus
• Fyziologie člověka a srovnávací fyziologie
• Učební osnovy. Vyučovací předměty. Učebnice
• NML Fields
• fyziologie

• MeSH
• Lower Extremity physiology   MeSH
• Ankle Joint physiology   MeSH
• Joints physiology   MeSH
• Knee physiology   MeSH
• Ankle physiology   MeSH
• Hip physiology   MeSH
• Musculoskeletal Physiological Phenomena MeSH
• Foot physiology   MeSH
• Publication type
• Atlas MeSH
• Textbook MeSH

• Conspectus
• Fyziologie člověka a srovnávací fyziologie
• Učební osnovy. Vyučovací předměty. Učebnice
• NML Fields
• fyziologie

• MeSH
• Arterial Occlusive Diseases physiopathology   MeSH
• Arteriosclerosis MeSH
• Lower Extremity MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Parathyroid Diseases drug therapy   MeSH
• Aged MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH

Stiff person syndrom (SPS) je vzácné autoimunitní onemocnění charakterizované progresivně fluktuujícím svalovým hypertonem a nasedajícími bolestivými svalovými spazmy, které vedou k poruše chůze. Jeho varianta – stiff limb syndrom (SLS) – postihuje především končetinové svaly s výrazně menším postižením axiálního svalstva. Onemocnění může příznivě reagovat na imunosupresivní terapii. V této videokazuistice prezentujeme pacientku opakovaně vyšetřovanou pro přechodnou ztuhlost dolních končetin. U pacientky bylo opakovaně vyjádřeno podezření na funkční poruchu hybnosti. Onemocnění postupně progredovalo, vedlo ke ztrátě soběstačnosti a upoutání na lůžko. U pacientky byla následně zjištěna pozitivita protilátek proti dekarboxyláze kyseliny glutamové (anti-GAD-Ab), která je charakteristická pro SPS/SLS. Zavedená imunosupresivní terapie vedla k výraznému zlepšení klinického obrazu a kvality života pacientky. V této videokazuistice pacientky se SLS chceme především poukázat na důležitost komplexního vyšetření pacienta a nutnost znalosti vzácných neurologických jednotek.

Stiff person syndrome (SPS) is a rare autoimmune disease characterized by progressive fluctuating muscle hypertonia and superimposed painful muscle spasms, resulting in a gait disorder. Its variant – stiff limb syndrome (SLS) – particularly affects limb muscles, with axial muscles being affected substantially less. The disease may respond favourably to immunosuppressive therapy. The video case report presents a female patient examined repeatedly for transient lower limb stiffness. The patient has been suspected to have a functional movement disorder. The disease had progressed gradually and led to loss of self-sufficiency and becoming bedridden. The patient was subsequently found to be positive for anti-glutamic acid decarboxylase antibodies (anti-GAD-Ab), which is characteristic for SPS/SLS. The introduction of immunosuppressive therapy resulted in a significant improvement in the clinical presentation and quality of life of the patient. The video case report of this patient with SLS primarily aims at highlighting the importance of comprehensive patient evaluation and the need to be aware of rare neurological entities.

• MeSH
• Autoimmune Diseases of the Nervous System MeSH
• Autoantibodies blood   MeSH
• Baclofen administration & dosage   pharmacology   MeSH
• Walking MeSH
• Aromatic-L-Amino-Acid Decarboxylases analysis   immunology   MeSH
• Diagnosis, Differential MeSH
• Immunosuppressive Agents therapeutic use   MeSH
• Immunoglobulins, Intravenous MeSH
• Glutamic Acid analysis   immunology   MeSH
• Humans MeSH
• Paraneoplastic Syndromes MeSH
• Movement Disorders diagnosis   etiology   MeSH
• Prognosis MeSH
• Aged MeSH
• Stiff-Person Syndrome * diagnostic imaging   blood   therapy   MeSH
• Check Tag
• Humans MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

Large unresectable STS presents a therapeutic challenge. Several options are being explored to avoid amputation without compromising the oncological outcome. Neoadjuvant chemotherapy delivers inconsistent and rather unsatisfactory results, preoperative radiotherapy compromises healing, hence it can impede adjuvant systemic treatment. We present a case report of neoadjuvant use of isolated limb perfusion with TNF-alfa and Alkeran (Melphalan) in a patient with initially unresectable large myxoid liposarcoma of the thigh. We achieved 55% reduction in size of the tumor that allowed for wide resection with a safe margin. Pathology confirmed 99% tumor necrosis. The patient has a full function of his extremity and is disease-free at one year follow-up. ILP should be considered as a treatment option which, in selected cases, can contribute to limb sparing surgery. Key words: sarcoma, soft tissue, regional perfusion, chemotherapy, surgery, orthopedic, limb salvage.

• MeSH
• Chemotherapy, Cancer, Regional Perfusion MeSH
• Adult MeSH
• Extremities MeSH
• Humans MeSH
• Liposarcoma, Myxoid * diagnostic imaging   drug therapy   surgery   MeSH
• Neoadjuvant Therapy * MeSH
• Perfusion MeSH
• Thigh MeSH
• Limb Salvage MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

Due to the ever-increasing proportion of older people in the total population and the growing awareness of the importance of protecting workers against physical overload during long-time hard work, the idea of supporting exoskeletons progressed from high-tech fiction to almost commercialized products within the last six decades. Sensors, as part of the perception layer, play a crucial role in enhancing the functionality of exoskeletons by providing as accurate real-time data as possible to generate reliable input data for the control layer. The result of the processed sensor data is the information about current limb position, movement intension, and needed support. With the help of this review article, we want to clarify which criteria for sensors used in exoskeletons are important and how standard sensor types, such as kinematic and kinetic sensors, are used in lower limb exoskeletons. We also want to outline the possibilities and limitations of special medical signal sensors detecting, e.g., brain or muscle signals to improve data perception at the human-machine interface. A topic-based literature and product research was done to gain the best possible overview of the newest developments, research results, and products in the field. The paper provides an extensive overview of sensor criteria that need to be considered for the use of sensors in exoskeletons, as well as a collection of sensors and their placement used in current exoskeleton products. Additionally, the article points out several types of sensors detecting physiological or environmental signals that might be beneficial for future exoskeleton developments.

• MeSH
• Biomechanical Phenomena MeSH
• Lower Extremity physiology   MeSH
• Exoskeleton Device * MeSH
• Humans MeSH
• Movement physiology   MeSH
• Aged MeSH
• Check Tag
• Humans MeSH
• Aged MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

AIM OF THE STUDY: To evaluate the effectiveness of virtual reality therapy (VRT) Armeo Spring® upper limb exoskeleton (Armeo), in early post-stroke rehabilitation with a focus on the elderly. CLINICAL RATIONALE FOR THE STUDY: Convalescence from a stroke is a complex process driven by a spontaneous recovery supported by multifactorial activation. Novel technology-based rehabilitation methods are being introduced to support brain plasticity. MATERIALS AND METHODS: Using a randomised controlled study design, participants within 30 days after stroke with arm paresis were, in addition to a daily rehabilitation programme, assigned to an intervention group (45 minutes Armeo IG n = 25; mean age 66.5 years) performing VRT, or to a conventional physiotherapy (45 minutes) control group (Armeo CG, n = 25, mean age 68.1 years). Montreal Cognitive Assessment (MoCA), Functional Independence Measure (FIM) and Fugl Mayer Assessment Upper Extremity Scale (FMA-UE) were performed before and after the three-week therapy with 12 therapeutic sessions. Results of participants < 65 and ≥ 65 years old were compared. RESULTS: Paretic upper arm function improved significantly in both the IG and CG groups, the improvement in FMA-UE was significantly higher in the IG compared to the CG (p = 0.02), and patients ≥ 65 years old presented an equal magnitude of improvement in paretic arm function compared to younger patients. CONCLUSIONS AND CLINICAL IMPLICATIONS: Early post-stroke rehabilitation strategies using, in addition to the daily rehabilitation programme, VRT with visual biofeedback is more effective on upper extremity motor performance than conventional physiotherapy, and the effectiveness does not diminish with patient age. This may be a promising addition to conventional physiotherapy in older stroke patients as well as in younger.

• MeSH
• Stroke * complications   MeSH
• Exoskeleton Device * MeSH
• Upper Extremity MeSH
• Humans MeSH
• Recovery of Function MeSH
• Stroke Rehabilitation * MeSH
• Aged MeSH
• Virtual Reality * MeSH
• Treatment Outcome MeSH
• Check Tag
• Humans MeSH
• Aged MeSH
• Publication type
• Journal Article MeSH
• Randomized Controlled Trial MeSH

Significant malrotation of the femur after osteosynthesis is a serious complication of treatment and has a number of consequences for the patients and causes deterioration of their quality of life. Therefore, it is necessary to be familiar with intraoperative techniques to control the correct rotation, mostly clinical and radiological, which give us the possibility to minimize rotational errors. In the postoperative period, with even a slight suspicion of malrotation, it is necessary to proceed to its exact verification and, in indicated cases, to perform necessary correction. We recommend one of the CT techniques as a very reliable method, however in younger patients we prefer to use MRI. Early diagnosis of the rotational error and especially its size is essential from the point of view of potential reconstructive surgery, which is then chosen also with regard to the location of the original lesion. Key words: femoral osteosynthesis, limb malrotation, methods of measuring.

• MeSH
• Femur surgery   diagnostic imaging   MeSH
• Femoral Fractures * surgery   MeSH
• Humans MeSH
• Magnetic Resonance Imaging methods   MeSH
• Tomography, X-Ray Computed MeSH
• Postoperative Complications diagnosis   etiology   MeSH
• Fracture Fixation, Internal * adverse effects   methods   MeSH
• Check Tag
• Humans MeSH
• Publication type
• English Abstract MeSH
• Journal Article MeSH
• Review MeSH