Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology.

Introduction: S-Adenosylhomocysteine hydrolase deficiency (SAHHD) is a rare inherited multisystemic disease with muscle involvement as one of the most prominent and poorly understood features. To get better insight into muscle involvement, skeletal muscles were analyzed by magnetic resonance imaging (MRI) and MR spectroscopy (MRS) in three brothers with SAHHD in the different age group. Method: The study was based on analysis of MRI and MRS of skeletal muscles of the lower and the proximal muscle groups of the upper extremities in three SAHHD patients. Results: Three siblings presented in early infancy with similar signs and symptoms, including motor developmental delay. All manifested myopathy, more pronounced in the lower extremities and the proximal skeletal muscle groups, and permanently elevated creatine kinase. At the time of MRI and MRS study, the brothers were at the age of 13, 11, and 8 years, respectively. MRI revealed lipid infiltration, and the MRS curve showed an elevated muscle lipid fraction (higher peak of lipid), which increased with age, and was more prominent in the proximal skeletal muscles of the lower extremities. These results were consistent with muscle biopsy findings in two of them, while the third patient had no specific pathological changes in the examined muscle tissue. Conclusions: These findings demonstrate that an accessible and non-invasive method of MRI and MRS is useful for an insight into the extent of muscle involvement, monitoring disease progression, and response to treatment in SAHHD.

Critical Appraisal of Surface Electromyography (sEMG) as a Taught Subject and Clinical Tool in Medicine and Kinesiology.

The characteristics and state of knowledge of bioelectric signals such as ECG, EEG, and EMG are initially discussed. This serves as the basis for exploration of the degree of scholastic coverage and understanding of the level of clinical acceptance of respective bioelectric signal subtypes during the last 60 or so years. The review further proceeds to discuss surface EMG (sEMG). The status of the field in terms of teaching and academic training related to sEMG is examined, and its clinical acceptance in several areas of medicine and kinesiology, including neurology, psychology, psychiatry, physiatry, physical medicine and rehabilitation, biomechanics and motor control, and gnathology, is evaluated. A realistic overview of the clinical utility of the measurement of sEMG signals and their interpretation and usage, as well as of perspectives on its development, are then provided. The main focus is on the state of the field in Croatia. EMG signals are viewed as "windows" into the function of the neuro-muscular system, a complex and hierarchically organized system that controls human body posture and gross body movement. New technical and technological means to enable the detection and measurement of these signals will contribute to increased clinical acceptance, provided current scientific, educational, and financial obstacles can be removed.

[Low back pain vs. leg dominant pain]. / Nespecificna krizobolja vs. radikulopatija.

There are two patterns of back pain: 1) back-dominant pain and 2) leg pain dominant, greater than back pain. The causes of back pain are very different and numerous, but mostly are due to vertebral, mechanical etiology, and rarely because of non vertebral, visceral etiology. Leg pain greater than back pain is mostly disease of spinal nerve root, generally presented by radicular pain in a dermatomal distribution. Mechanical compression of spinal roots, caused by disc herniation or by spinal stenosis, results in radicular symptoms. Rarely, in about 1% of patients, there are some other reasons except vertebral mechanical cause, like infection, tumor or fracture. There are several causes of pseudoradicular pain like periferal neuropathy, myifascial syndromes, vascular diseases, osteoarthritis. Spondylarthropathies should be taken in cosideration as well. A complete history and physical examination is important to determine further diagnostic evaluation and to provide eficient therapy.

[Musculoskeletal manifestations in lysosomal storage diseases]. / Muskuloskeletni simptomi u lizozomskim bolestima nakupljanja.

Lysosomal Storage Diseases (LSD) is a group of metabolic disorders caused by the deficiency of lysosomal enzymes needed for metabolism of lypids, glycoproteins, mucopolysaccharides. Deficit causes their progressive accumulation within the cells of various tissues throughout the body, ultimately compromising cell function. The major sites of disease differ depending on the specific enzyme deficiency; therefore, clinical presentation present a chronic multisystemic and progressive course and approaches to therapy are different for the various disease types. Because of multisystemic involvement in patients with LSD, treatment is multidisciplinary and encompasses both the curative and palliative elements. Replacing the deficient enzyme by enzyme replacement therapy (ERT), produced by recombinant DNA technology, may provide clinically important benefits, improve symptoms and delay disease-induced complications. Patients with lysosomal storage diseases demonstrate musculoskeletal manifestations (myopathy, joint contractures, vertebral deformities) early in life. Regular evaluation and recognition of musculoskeletal manifestations as an early symptom of LSD is important, because the posibility of early management of LSD before ireversible changes, can be provided.

Spatial, temporal and kinematic characteristics of traumatic transtibial amputees' gait.

Presented study gives findings of temporal-spatial kinematic gait analysis in 12 male adults, war trauma transtibial (TT) amputees fitted with prosthesis compared to 12 able-bodied persons. Results disclose asymmetries between the amputated, prosthetic and healthy legs of amputees, as well as between TT amputees and non-disabled persons. Amputees in comparison with able-bodied persons, generally, showed significantly increased swing-time (ms) (p < 0.01). Prosthetic, right legs of amputees showed decreased stance-phase (ms and % GC) (p < 0.01) and increased swing-time (ms) (p < 0.05), compared with right legs of able-bodied persons while statistical significance was reached (p < 0.01) for decreased stance-time (% stride and ms), increased swing-time (% stride and ms), decreased swing velocity (m/s), increased anterior step length and decreased stride length (p < 0.05), compared with contra lateral, left legs of amputees. Our conclusion is that instrumented kinematic gait analysis study is able to provide assessment about the way prosthetic TT amputees walk.

Relationship between clinical contourometric measurements and vertebral rotation in adolescent idiopathic scoliosis.

The relationship between trunk and spine deformity has yet not been well defined. The purpose of this study was to identify the relationship between clinical (contourometric) and radiographic methods of scoliotic deformity evaluation. Our second objective was to create mathematical formulas for calculating radiographic parameters based on defined correlations of multiple parameters. We did a study of 136 preoperatively analysed patients with idiopathic scoliosis. Altogether, 189 lateral curvatures were assessed. Based on Lenke's classification, curves were divided into three groups: a thoracic, a thoracolumbar and a lumbar curve group. Each group was analyzed separately to determine relationships between clinical contourometric (scoliometer value, humpometer values) and radiographic measurement (apical vertebral rotation (AVR) according to Drerup). On the grounds of statistically significant correlation coefficients of most clinical parameters and Drerup rotation we found good relationships between trunk and spine deformity. Using the best correlated clinical parameters and multiple regression statistical analysis we created mathematical formulas for prediction of scoliotic AVR in higher degree curves.

Ground reaction force analysis in traumatic transtibial amputees' gait.

The study gives up findings of ground reaction force (GRF) measurement in traumatic transtibial amputees (TT) equipped with prosthesis. Results disclose significant asymmetries between the amputated and healthy legs, as well as between transtibial amputees and non-disabled persons. Decreased GRF of prosthesis (max. horizontal force Fx2 and medio-lateral Fy1 (p < 0.05), max. vertical force Fz1 during the loading response phase and Fz 3 - max. vertical force in late terminal stance; Fx 1 - max. horizontal force and Fy 2 - max. lateral force) were registered in comparison to healthy legs of amputees. The only exception represents vertical force Fz2 showing larger magnitude on prosthetic legs (p < 0.1). Nearly all forces (Fz1 and Fz3 - max. vertical force, Fx1 and Fx2 - max. horizontal forces and Fy1- max. medial force) were decreased for prosthetic legs in comparison to the healthy legs of amputees and to able-bodied persons.

[Lower limb amputations caused by tumours and prosthetic rehabilitation in Croatia from 2000 to 2004]. / Amputacije nogu uzrokovane tumorima i proteticka rehabilitacija u hrvatskoj od 2000. do 2004. godine.

During the period of five years (2000-2004) we monitored 46 patients (25 males and 21 females) who were admitted to Clinical Institute for Rehabilitation and Orthopaedic Aids in Zagreb for the first prosthetic rehabilitation following the lower limb amputation which was caused by a tumour. The average age of patients was 51 +/- 17.11 years. According to the pathohistological diagnosis the most common cause of lower limb amputations was osteosarcoma. According to the level of amputation the most frequent was trans-femoral amputation (50%) and the least frequent was knee disarticulation (8.7%). The average number of days from the amputation to the beginning of prosthetic rehabilitation was 108 +/- 67.05. At the time of admission 15.2% of patients had local complications of the stump and 34.8% of patients complained of phantom pain. The average number of days of prosthetic rehabilitation was 35 +/- 7.94. The medium daily use of the prosthesis was 5 hours and the medium walking speed was 12 sec/10 m. At the time of admission for the prosthetic rehabilitation 10.9% of patients used a wheelchair, 8.7% walked with a walker and others with two crutches. At the time of discharge 89.1% of patients were able to walk with a prosthesis and two crutches, 4.4% with one crutch and 6.5% were able to walk without crutches. We can be satisfied with the results of prosthetic rehabilitation because patients regained mobility and full independence in performing their daily activities.