Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment

Schwartz–Jampel syndrome (chondrodystrophic myotonia) is a monogenic genetic disorder, demonstrating unique coincidence of the features of skeletal dysplasia and neuromuscular disease. We present four clinical cases of Schwartz–Jampel syndrome. Principles of diagnostic and results of surgical treatment of the lower limbs deformities are discussed. Importance of this study comprises unique description of rare cases. Surgical treatment for orthopaedic conditions is important and can lead to functional improvement, prevent progression of deformities and enhance daily activity

Синдром Шварца–Джампела: опыт диагностики и ортопедического лечения

Schwartz–Jampel syndrome (chondrodystrophic myotonia) is a monogenic genetic disorder, demonstrating unique coincidence of the features of skeletal dysplasia and neuromuscular disease. We present four clinical cases of Schwartz–Jampel syndrome. Principles of diagnostic and results of surgical treatment of the lower limbs deformities are discussed. Importance of this study comprises unique description of rare cases. Surgical treatment for orthopaedic conditions is important and can lead to functional improvement, prevent progression of deformities and enhance daily activity.Синдром Шварца–Джампела (хондродистрофическая миотония) – моногенное наследственное заболевание, характеризующееся уникальным сочетанием признаков скелетной дисплазии и нейромышечного заболевания. Представлены 4 клинических случая синдрома Шварца–Джампела. Рассмотрены принципы диагностики и опыт хирургического лечения деформаций нижних конечностей. Ввиду того, что в современной научной отечественной литературе имеются единичные описания клинических примеров данного синдрома, настоящие наблюдения имеют большую значимость. Хирургическое лечение деформаций опорно-двигательного аппарата патогенетически обоснованно, так как позволяет добиться функциональных улучшений и опороспособности, предотвратить прогрессирование деформаций и контрактур, увеличивая двигательную активность пациентов

REPRODUCIBILITY OF THE BASIC X-RAY PARAMETERS OF LOWER EXTREMITY DEFORMATIONS IN CHILDREN WITH SKELETAL DYSPLASIA

Introduction: axial deformities in the lower extremities of children lead to an uneven distribution of the load in different compartments of the knee joint, which can contribute to the development of osteoarthritis. Regardless of the cause of their occurrence, the main goal of treatment is the restoration of the mechanical axis. Various calculation methods are used to determine the amount of deformity, its apex and the degree of required correction. The aim: to evaluate the reproducibility of the basic X-ray parameters characterizing the deformities of the lower extremities in the frontal plane in children with skeletal dysplasia based on the calculation of inter-rater reliability.Materials and methods: the article presents calculations of the main angulometric parameters of the knee joint (deviation of the mechanical axis — MAD, distal mechanical angle of the femur — mLDFA, proximal angle of the tibia — MPTA) in 18 patients with skeletal dysplasia (30 lower extremities) that had axial deformities of the lower extremities in the frontal plane at the level of the knee joint. The control group included the results of similar calculations of the angulometric parameters in 19 children (30 lower extremities) with valgus and varus deformities of the knee joint without skeletal dysplasia (idiopathic axial deformations, posttraumatic deformities, malformations of the lower limbs). The estimation of inter-expert reliability was made in the SPSSv. 23.Results: the analysis demonstrated that calculation of reference parameters in children without primary lesion of the growth plate has a high degree of inter-rater reliability: an intra-class correlation coefficient with a 95% confidence interval (ICC [95% CI]) when calculating the reference angles of mMPTA and mLDFA was 0.981% [0.971–0.991] and 0.993% [0.989–0.997] respectively, for MAD 0.996% [0.993–0.998]. When calculating the same parameters in children with skeletal dysplasia, the results differed. Thus, the intra-class correlation coefficient for the deviation of the mechanical axis was 0.861% [0.763–0.926] (which corresponds to the normal reproducibility of this parameter), for mMPTA — 0.586% [0.295–0.781], for mLDFA — 0.796% [0.653–0.892]. This indicates a low reproducibility and may lead to errors in the planning of correction of axial deformities of the lower limbs in children with skeletal dysplasia.Conclusion: when calculating the severity of axial deformities in the lower extremities in children with skeletal dysplasia, the most reproducible parameter is the determination of the deviation of the mechanical axis of the lower extremities as compared to the studied angulometric methods

Извлечение из глиноземсодержащих сметок алюминиевого производства оксидов кремния и железа

Текст статьи не публикуется в открытом доступе в соответствии с политикой журнала.The method of recovery of contaminating components from sweepings of the aluminum production for their further return into the electrolyzer is proposed. To concentrate the material, the following processing flowsheet is proposed: milling-classification-reverse flotation-thickening. For the most complete removal of silicon and iron oxides during the flotation of sweepings, the Flotigam 7266 flotation reagent produced by Clariant (Germany), which is a mixture of primary fatty alkyl amines, is used. To remove carbon particles, the combination of pine oil in a mixture with kerosene is used. Flotation is performed using a FML 0.3 flotation machine. The initial material, chamber product, and tails are analyzed for the content of carbon and aluminum, iron, and silicon oxides using X-ray spectral (XSA), X-ray phase (XPA), and chemical analyses. It is established that processing the total material mass does not make it possible to acquire a product with an acceptable content of silicon and iron oxides. Based on the XPA of various fractions of the initial material, it is proposed to process the material fractions containing the minimal amount of contaminating substances (carbon and silicon and iron oxides). Two fractions are selected for processing using the flotation method by the XRS results of various material fractions:-0.071 mm and +5.0 mm. When processing the first of them, the chamber product of the acceptable quality is acquired. A product with a high content of alumina and fluorinated components at low carbon and iron oxide concentrations but a considerable amount of silicon oxide is acquired from a coarse electrolyte-containing fraction (+5.0 mm). The further use of this product is possible to fabricate aluminum-silicon alloys

ИЗВЛЕЧЕНИЕ ОКСИДОВ КРЕМНИЯ И ЖЕЛЕЗА ИЗ ГЛИНОЗЕМСОДЕРЖАЩИХ СМЕТОК АЛЮМИНИЕВОГО ПРОИЗВОДСТВА

The paper suggests a method for recovering contaminants from aluminum-production waste called sweepings to return them further to the electrolytic cell. It is proposed to use the grinding – sizing – reverse flotation – thickening scheme for material beneficiation. Flotigam 7266 (Clariant, Germany), a mixture of primary fatty alkylamines, was used as a flotation reagent in the study to completely remove silicon and iron oxides. The combination of pine oil mixed with kerosene was used to remove carbon particles. Flotation was conducted on the FML 0,3 flotation machine. The raw material, chamber product and tailings were analyzed for the content of carbon and aluminum, iron and silicon oxides using X-ray diffraction, X-ray phase and chemical analysis. It was found that processing the overall mass of the material does not provide a product with an acceptable content of silicon and iron oxides. Based on the X-ray phase analysis of various raw material fractions it was proposed to process material fractions containing minimum contaminants (carbon, silicon and iron oxides). Two fractions were chosen for flotation processing: –0,071 mm and +5,0 mm according to the X-ray diffraction analysis of various material fractions. Processing the first fraction allowed obtaining the chamber product of an acceptable quality. The coarse electrolyte-containing fraction (+5,0 mm) provided the product with the high content of alumina and fluorinated components and low content of carbon and iron oxide, but with a significant amount of silicon oxide. Further use of this product is possible to obtain silicon-aluminum alloys.Предложен способ извлечения загрязняющих компонентов из сметок алюминиевого производства с целью дальнейшего их возврата в электролизер. Для обогащения материала предлагается следующая схема переработки: измельчение – классификация – обратная флотация – сгущение. В работе для наиболее полного удаления оксидов кремния и железа при флотации сметок используется флотореагент Flotigam 7266 компании «Clariant» (Германия), представляюший собой смесь первичных жирных алкиламинов. Для удаления углеродных частиц использовалось сочетание соснового масла в смеси с керосином. Флотация проводилась на флотомашине ФМЛ 0,3. Исходный материал, камерный продукт и хвосты анализировались на содержание углерода и оксидов алюминия, железа и кремния с использованием рентгеноспектрального (РСА), рентгенофазового (РФА) и химического методов анализа. Установлено, что переработка общей массы материала не позволяет получить продукт с приемлемым содержанием оксидов кремния и железа. На основании РФА различных фракций исходного материала предложена переработка фракций материала, содержащих минимальное количество загрязняющих веществ (углерода, оксидов кремния и железа). По результатм РСА различных фракций материала для переработки методом флотации были выбраны две фракции: –0,071 мм и +5,0 мм. При переработке первой из них получен камерный продукт приемлемого качества. Из крупной электролитсодержащей фракции (+5,0 мм) получен продукт с высоким содержанием глинозема и фторсодержащих компонентов при небольших концентрациях углерода и оксида железа, но значительным количеством оксида кремния. Дальнейшее использование данного продукта возможно для получения алюмокремниевых сплавов