The authors describe a technical approach to validating efficient regimes and process flow charts for draglines in open pit mining in permafrost zone; the approach integrates modeling data on ...temperature conditions of permafrost treated by blasting, geometrical parameters of a dragline face and interaction of work cycle time and face rock temperature in different seasons. It is shown that a dragline has the appreciably reduced productivity in slice-by-slice handling of broken-rock disintegration having negative temperature.
Artificial frozen backfill for coal and ore mines in permafrost zone is discussed. Optimal frozen mixtures with the required strength characteristics are determined. It is shown that load-bearing ...capacity of backfill depends on grain size composition and volumetric content of ice. The mathematical model of layer-by-layer backfilling is developed, and the freezing time is found. Varying mixture composition and freezing parameters allows arriving at the required strength of frozen backfill at minimal filling time.
The article discusses the case study of temperature behavior prediction in permafrost rock mass before and after blasting at Kangalass lignite deposit. It is illustrated how the blasting period is ...related with the temperature behavior in the disintegration of broken rocks. The results are the basis to predict dragline productivity in different seasons and to select efficient scheme for blasted rock removal.
A mathematical model is proposed for calculating the temperature regime of the soils of the basement of a residential building on the alluvial soils of Yakutsk in the coastal zone of the Lena River. ...The model takes into account the air temperature in the building, ambient air temperature, and water filtration depending on the hydrological regime of the river and calculates the change in the soil temperature at the building base to ensure its stability.
Differential diagnosis of inflammatory myopathies with hereditary muscular dystrophies accompanied by a secondary inflammatory process is a time‑consuming clinical and pathomorphological task. In ...particular, false diagnosis of polymyositis in patients with dysferlinopathy reaches 25 % of cases.A 40‑year‑old female patient with a limb‑girdle phenotype of dysferlinopathy, initially diagnosed as polymyositis, is presented. The reasons that led to the erroneous diagnosis were: sporadic case; subacute onset; proximal muscle weakness; myalgia, which stopped on the glucocorticosteroid therapy; high levels of creatine phosphokinase (up to 17 times); the presence of lymphocytic‑macrophage infiltrate in the muscle biopsy and the absence of magnetic resonance imaging data in primary examination of the patient.The refractoriness of clinical and laboratory signs to complex immunosuppressive therapy was the reason for revising the muscle biopsy with typing of the inflammatory infiltrate. The predominantly unexpressed perivascular infiltrate was characterized by the predominance of macrophages and, to a lesser extent, CD4+, which indicated the secondary nature of the inflammation in the muscle observed in some hereditary muscular dystrophies. When conducting an immunohistochemical reaction, the absence of the dysferlin protein in the sarcoplasmic membrane was revealed.Whole‑exome sequencing (NGS) revealed a mutation in exon 39 of the DYSF gene (p.Gln1428Ter) in the heterozygous state, which leads to the appearance of a stop codon and premature termination of protein translation. MLPA method registered 3 copies of exons 18, 19, 20, 22, 24 of the DYSF gene.Thus, this clinical example reflects the main methodological errors and possible effects of immunosuppressive therapy in patients with dysferlinopathy.
The present article proposes a mathematical model for calculating the temperature regime of foundation-bed soils for an industrial building, considering the operation of horizontal seasonal cooling ...mechanisms under challenging geocryological conditions. The model takes the following points into account: air temperature in the building, atmospheric air temperature, depth of placement, number of seasonal cooling mechanisms, and water filtration in the talik zone. The presented model can be used to calculate changes in soil temperature at the base of a building in order to ensure its stability.
Childhood dilated cardiomyopathy (DCM) is a leading cause of heart failure requiring cardiac transplantation and approximately 5% of cases result in sudden death. Knowledge of the underlying genetic ...cause can aid prognostication and clinical management and enables accurate recurrence risk counselling for the family. Here we used genomic sequencing to identify the causative genetic variant(s) in families with children affected by severe DCM. In an international collaborative effort facilitated by GeneMatcher, biallelic variants in PPP1R13L were identified in seven children with severe DCM from five unrelated families following exome or genome sequencing and inheritance‐based variant filtering. PPP1R13L encodes inhibitor of apoptosis‐stimulating protein of p53 protein (iASPP). In addition to roles in apoptosis, iASPP acts as a regulator of desmosomes and has been implicated in inflammatory pathways. DCM presented early (mean: 2 years 10 months; range: 3 months‐9 years) and was progressive, resulting in death (n = 3) or transplant (n = 3), with one child currently awaiting transplant. Genomic sequencing technologies are valuable for the identification of novel and emerging candidate genes. Biallelic variants in PPP1R13L were previously reported in a single consanguineous family with paediatric DCM. The identification here of a further five families now provides sufficient evidence to support a robust gene‐disease association between PPP1R13L and severe paediatric DCM. The PPP1R13L gene should be included in panel‐based genetic testing for paediatric DCM.
Calcium phosphate powder were synthesized from aqueous solutions of calcium lactate Ca(C
3
H
5
O
3
)
2
and ammonium hydrophosphate (NH
4
)
2
HPO
4
at a Ca/P = 1 molar ratio. According to the XRD ...data, the phase composition of as-synthesized powder consisted of brushite CaHPO
4
⋅ 2H
2
O and hydroxyapatite Ca
10
(PO
4
)
6
(OH)
2
. After heat treatment at 350–600°C, the powder was colored dark brown owing to the destruction of the by-product of the reaction. The composition of the powder heat-treated at 350°C included monetite CaHPO
4
and hydroxyapatite Ca
10
(PO
4
)
6
(OH)
2
, and the powder heat-treated at 600°C consists of hydroxyapatite Ca
10
(PO
4
)
6
(OH)
2
and γ-calcium pyrophosphate γ-Ca
2
P
2
O
7
. The phase composition of ceramic obtained from the synthesized powder after sintering at 1100°C consisted of β-calcium pyrophosphate β-Ca
2
P
2
O
7
and β‑tricalcium phosphate β-Ca
3
(PO
4
)
2
. The colored after the heat treatment in a range of 350–600°C powders can be used as a starting for the molding of porous biocompatible calcium phosphate composite materials with the given geometry of the porous space by stereolithographic printing. The synthesized powder can be recommended for the development of biocompatible and biodegradable both ceramic composite materials and composites with polymer or inorganic matrix for bone implants.
Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists. However, the frequency of endemic ...mutations in most isolates has not been investigated.
The prevalence of the pathological DYSF gene variant (NM_003494.4); c.200_201delinsAT, p. Val67Asp (rs121908957) was investigated in an isolated Avar population in the Republic of Dagestan. Genetic screenings were conducted in a remote mountainous region characterized by a high level of consanguinity among its inhabitants. In total, 746 individuals were included in the screenings.
This pathological DYSF gene variant causes two primary phenotypes of dysferlinopathy: limb-girdle muscular dystrophy (LGMD) type R2 and Miyoshi muscular dystrophy type 1. Results indicated a high prevalence of the allele at 14% (95% confidence interval CI: 12-17; 138 out of 1518 alleles), while the allele in the homozygous state was detected in 29 cases-3.8% (CI: 2.6-5.4). The population load for dysferlinopathy was 832.3 ± 153.9 per 100,000 with an average prevalence of limb-girdle muscular dystrophies ranging from 0.38 ± 0.38 to 5.93 ± 1.44 per 100,000.
A significant burden of the allele was due to inbreeding, as evidenced by a deficiency of heterozygotes and the Wright fixation index equal to 0.14 (CI 0.06-0.23).
Hydroxyapatite (HA) Ca
10
(PO
4
)
6
(OH)
2
powders kept for 1 h with stirring in 0.25 M aqueous solutions of dihydrogen phosphates of ammonium NH
4
H
2
PO
4
, sodium NaH
2
PO
4
, and potassium KH
2
...PO
4
were used to obtain ceramics. According to XRD data, there were no changes in the phase compositions of powders after such treatment. After firing at 900 – 1100°C the phase composition of ceramics based on HA Ca
10
(PO
4
)
6
(OH)
2
powder treated with an aqueous solution of NH
4
H
2
PO
4
included β-tricalcium phosphate β-Ca
3
(PO
4
)
2
and HA Ca
10
(PO
4
)
6
(OH)
2
; the phase composition of ceramics based on HA powder Ca
10
(PO
4
)
6
(OH)
2
treated with an aqueous solution of NaH
2
PO
4
included sodium-substituted tricalcium phosphate Ca
10
Na(PO
4
)
7
and HA Ca
10
(PO
4
)
6
(OH)
2
; the phase composition of ceramics based on HA powder Ca
10
(PO
4
)
6
(OH)
2
treated with an aqueous solution of KH
2
PO
4
included potassium-substituted tricalcium phosphate Ca
10
K(PO
4
)
7
and HA Ca
10
(PO
4
)
6
(OH)
2
. The formation of biphasic ceramics occurred because of reduction in the Ca/P molar ratio of HA Ca
10
(PO
4
)
6
(OH)
2
powder after treatment in aqueous solutions of dihydrogen phosphates of ammonium NH
4
H
2
PO
4
, sodium NaH
2
PO
4
, and potassium KH
2
PO
4
. Adsorption of cations and anions from solutions on the surface of HA particles, slight dissolution of HA in aqueous solutions of dihydrogen phosphates with acidic pH, as well as ion exchange of cations and anions in the HA structure for cations and anions from solutions were possible processes effecting change in the ratio of cations and anions in HA powder. The resulting ceramic composites contain biocompatible phases and can be recommended for creating bone implants.
