Несовершенный остеогенез: особенности диагностики

Osteogenesis imperfect (OI) is a rare genetic disease of connective tissue, the main manifestation are fractures that are developing due to increased bone fragility in both children and adults. Currently, it is known that the genetic basis of the disease in 90% of cases are violations in the genes COL1A1 and COL1A2. Diagnosis of this disease is mostly based on clinical and radiological data; some laboratory parameters of blood and urine can provide additional information but, due to the low specificity, these tests are not widely used in clinical practice when diagnosing the bone pathology. Separate extensive problem is the realization of timely differential diagnosis followed by the establishment of correct diagnosis and development of the right tactics. Currently, the standard of management of patients with OI is a multidisciplinary approach that allows to perform the necessary examination of a child, to make an accurate diagnosis, and start the therapy in time. A practitioneer should have sufficient knowledge about the disease and be able to apply it practically to realize the treatment tactics.Несовершенный остеогенез — редкое генетически опосредованное заболевание соединительной ткани, характеризуемое частыми переломами, возникающими как у детей, так и у взрослых вследствие повышенной хрупкости костей. В настоящее время известно, что генетической основой заболевания являются мутации в 20 генах, из них COL1A1 и COL1A2 ответственны за 90% случаев развития патологии. Однако, диагностика несовершенного остеогенеза основана главным образом на клинических и рентгенологических данных. Вспомогательное значение могут иметь некоторые лабораторные показатели крови и мочи, низкая специфичность которых ограничивает их широкое использование. Нерешенной проблемой остается и своевременная дифференциальная диагностика несовершенного остеогенеза. В настоящее время стандарт ведения больных с несовершенным остеогенезом подразумевает мультидисциплинарный подход с привлечением таких специалистов, как педиатр, эндокринолог, хирург-ортопед, специалисты по реабилитации, стоматолог, генетик, социальный работник/психолог, что позволяет выполнить необходимое обследование пациента, выставить точный диагноз и вовремя начать адекватную терапию.КОНФЛИКТ ИНТЕРЕСОВАвторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи

The experiment results of using the competency-based approach in the occupational safety management field to reduce microtraumas in the energy sales company

Reducing injuries problems in the electrical energy industry require the modern tools search and application for managing professional risks. The authors suggest the labor protection services specialists’ professional competence improving in organizations as one of these tools. Conducting experiment of the labor protection specialists’ professional competence improving impact assessment on the labor protection management effectiveness of was performed on the example of the energy sales company. The experiment purpose was the electrical injuries level decrease. The competency-based approach testing in the labor protection field is based on the researches results of more than 1000 organizations, where the assessment of more than 2000 labor protection specialists’ professional competence state was performed. The results obtained showed the occupational safety specialists professional competence improving effectiveness not only in electrical injury reducing by 1.5 times over 2 years, but also in the occupational safety management system effectiveness improving in the company as a whole. The authors forecast the further positive company’s competence approach impact in the labor protection field in dynamics. The experiment results are of practical interest to the labor protection services heads, personnel management services, leading top managers, employers

The labor protection specialist competence influence on the professional risk management state

The results of the authors’ research in more than 600 organizations have shown the labor protection specialist competence influence on the occupational risk management system state and the overall labor protection management system. It is revealed that the leading role in the labor conditions and safety improving strategy choosing and formation, as well as in the scientifically based method of professional risk assessment belongs to a labor protection specialist with a certain competence. The paper describes 16 occupational safety specialists’ professional competence levels and the main factors that determine their formation. The possibilities and abilities of specialists’ with different professional competence levels to assess professional risks are considered and presented in tabular form. About 100 data of different approaches and methods for assessing occupational risks are given, from which only a competent occupational safety specialist can choose the best method for his organization. His decision influences not only the assessing and managing professional risks procedure costs, determined by the particular method choosing, but also the overall occupational safety management system effectiveness in the organization. The conducted research has shown a significant occupational safety competent specialists role in ensuring the professional risks management in the organization and allowed to link his capabilities in assessing professional risks with his professional competence level. This information can motivate the employer to pay attention to the labor protection specialists’ role in ensuring the industrial safety and take care of their timely skills improvement

Osteogenesis Imperfecta: Diagnostic Feature

Osteogenesis imperfect (OI) is a rare genetic disease of connective tissue, the main manifestation are fractures that are developing due to increased bone fragility in both children and adults. Currently, it is known that the genetic basis of the disease in 90% of cases are violations in the genes COL1A1 and COL1A2. Diagnosis of this disease is mostly based on clinical and radiological data; some laboratory parameters of blood and urine can provide additional information but, due to the low specificity, these tests are not widely used in clinical practice when diagnosing the bone pathology. Separate extensive problem is the realization of timely differential diagnosis followed by the establishment of correct diagnosis and development of the right tactics. Currently, the standard of management of patients with OI is a multidisciplinary approach that allows to perform the necessary examination of a child, to make an accurate diagnosis, and start the therapy in time. A practitioneer should have sufficient knowledge about the disease and be able to apply it practically to realize the treatment tactics