We additionally present a review regarding the situation in the Russian Federation. Orphan diseases are amenable to present molecular-genetic as well as other diagnostic technologies, including focused, entire exome and entire Bioresorbable implants genome sequencing (targeted NGS, WES, WGS) making use of next generation sequencing technologies (next generation sequencing, NGS) and combination size spectrometry (TMS, MS/MS). We conclude with a call for major measures geared towards enhancing the diagnosis of orphan diseases, in specific through the development associated with neonatal testing system, the development of a network of orphan condition recommendation facilities, and centralized management of patients registers.The article is devoted to an important issue of modern-day pediatric neurology and rehabilitation, – the issues of analysis and comprehensive restorative treatment of the results of terrible brain injury (TBI) in kids and teenagers. It really is understood that TBI is described as a higher frequency of disability, while asthenic, vegetative, intellectual, psychological, motor and postural disorders are leading within the medical image. It is shown that the elements affecting the seriousness of the effects of TBI in kids are not just the seriousness of the damage itself, but additionally the age of which the damage happened, along with the localization of this lesion. The article defines contemporary ways of complex diagnosis and rehabilitation regarding the effects of TBI in kids, also pathogenetically warranted ways to drug treatment, while showing the large effectiveness for the medication choline alfoscerate (Cereton) in rebuilding cognitive functions and enhancing the medical condition in young ones using the consequences of TBI, in accordance with the outcomes of a double-blind placebo-controlled multicenter randomized trial.Low back pain consumes one of the leading places among discomfort syndromes and it is an urgent health, personal, and economic dilemma of our time. Overview of modern-day domestic and international literary works data on the features of diagnosis, treatment and rehab of chronic dorsalgia in patients with comorbid pathology had been done. This article reflects the key Endoxifen cost etiological elements, defines the kinds of straight back discomfort non-specific (musculoskeletal), radiculopathy, discomfort involving potentially dangerous diseases, in addition, problems regarding the pathogenesis of discomfort syndromes tend to be showcased with an indication of nociceptive, neuropathic, psychogenic components. The most typical comorbidity in patients with chronic discomfort in the back is characterized. Diagnostic algorithms for the problem under study, steps of medicine and non-drug treatment, the alternative of exercising pilates for chronic lower back pain through the perspective of evidence-based medication are thought. It absolutely was claimed that the treating persistent discomfort within the spine ought to be specific, with an impact on different backlinks when you look at the pathogenesis regarding the pathological process. At exactly the same time, the practice of yoga allows you to comprehensively affect the body at different amounts physical, emotional, psychological. However, further research is needed in this area.The problem of persistent pain is an important concern of today medicine due to its large prevalence and treatment ineffectiveness more often than not. It was proved by means of neuroimaging methods that persistent pain is definitely associated with glial activation in central nervous system, resulting in the disruption of glial cells involvement within the eregulation of neuron microenvironment and neurotransmitter change. Because of this, interneuronal interaction in nociceptive pathways is interrupted and pathological neuroplasticity procedures develop, causing the formation of pathological circuits, selfregilated in the shape of positive feedback. Thus, intervention that is directed to neuroinflammation suppression can by pathogeneticaly approved and effective way to treat chronic pain Medullary carcinoma . In this review basic mechanisms regarding the inflammation initiation and maintaining in nervous system in chronic pain are believed, pathological self-regulated circuits with neurons and protected cells tend to be explained and existing persistent pain medications with antiinflammatiry and antinociceptive properties are detailed.65-year-old female diagnosed with longitudinally substantial transverse myelitis. She had exceptional a reaction to immunotherapy despite her atypical functions, and her spinal lesion was totally restored into the second month of this treatment. Nine months after, she had been clinically determined to have main cerebral nervous system lymphoma while there was clearly no recurrence associated with the spinal-cord lesion as her most recent follow-up visit becoming a couple of years after the LETM. Spinal sentinel neuroinflammation preceding major central nervous system lymphoma might represent a very important etiology into the differentials of LETM, as illustrated here.We have established and describe two dimension treatments to identify possible zinc (Zn) deficiency; albumin-corrected Zn concentration and offered no-cost Zn-binding ability.