Нарушения митохондриального бета-окисления жирных кислот - группа редких наследственных нарушений обмена веществ. Недостаточность длинноцепочечной 3-гидроксиацил КоА дегидрогеназы (LCHADD) одно из наиболее частых в странах Европы веществ группы дефектов кислот. Это заболевание характеризуется поражением печени, сердечной и скелетной мышц, частыми метаболическими кризами высокой смертностью детс...

Skeletal development is a multistage process during which mesenchymal progenitor cells undergo proliferation and differentiation and subsequently give rise to bone and cartilage forming cells. Each step is regulated by various transcription factors and signaling molecules. microRNAs are small non-coding RNAs that post-transcriptionally regulate gene expression. Several in vivo and in vitro stud...

Background Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked recessive disorders associated with both skeletal myopathy and progressive cardiomyopathy in males. Although BMD patients present milder skeletal muscle involvement, they have been shown to present more advanced cardiomyopathy than DMD. Female DMD/BMD carriers are usually free of skeletal muscle symptoms but they may a...

Lipids stored in skeletal muscle cells are known as intramyocellular lipid (IMCL). Disorders involving IMCL and its causative factor, circulatory free fatty acids (FFAs), induce a toxic state and ultimately result in insulin resistance (IR) in muscle tissue. On the other hand, intramuscular triglyceride (IMTG), the most abundant component of IMCL and an essential energy source for active skelet...

BACKGROUND The first case of Osteogenesis Imperfecta Type V in the Polish literature is reported. CASE REPORT Skeletal survey of an 8 year old girl with a history of multiple fractures and bilateral dislocation of radial heads was received for consultation. CONCLUSIONS Generalised osteoporosis with multiple fractures, periosteal thickening and bilateral dislocation of the radial heads are c...

Klippel-Feil syndrome is a congenital malformation, the leading component of which violation segmentation cervical vertebral bodies. The can be combined with other skeletal anomalies: skull asymmetry, scoliosis, high shoulder blades, and ribs. Treatment usually symptomatic; indications for surgical treatment are progressive neurological disorders persistent pain syndrome, develop due to instabi...

The notochordal-basichondrocranium relationships have been investigated in cranioschisis occulta with encephalocoele (CSO-EN) and in cranioschisis aperta with exencephaly (CSA-EX) which represent, respectively, a minimal and a severe form of experimentally induced axial skeletal (dysraphic) disorders. Although apparently different, these two malformations are considered to represent different d...

Musculoskeletal complaints are on the parts of skeletal muscles that experienced by a person with different levels ranging from very mild to severe complaints. cause pain, numbness, soreness, stiffness, tingling, swelling, tremors, sleep disturbances, as well decreased work productivity and lost time. This study aims analyze factors associated occurrence musculoskeletal disorders in Batik Craft...

Although it enables a quick evaluation, medical diagnostics of the human myofascial-skeletal system is not always used to its full capabilities. This often hampers objective assessment dysfunction and limits treatment options. Dysfunctions stomatognathic system, different aetiology, are becoming more prevalent. Many scientific studies in relationships between organs systems body that can cause ...